uniProtId	entrezGeneId	polymorphism	GObiolProcess	GObiolProcessId	GOmolFunction	GOmolFunctionId	GOcellComponent	GOcellComponentId	extUniProtIds	OMIM	dbSNP	mutPolyFlag
A0AV02	84561	<ul><li>R->C at 181: in dbSNP:rs2993631<li>P->L at 266: in dbSNP:rs863642<li>K->R at 541: in dbSNP:rs6773138<li>R->Q at 664: in dbSNP:rs2981482</ul>									<li>rs6773138</li><li>rs2981482</li><li>rs2993631</li><li>rs863642</li>	2
A0AVF1	79989	<ul><li>D->N at 310: in dbSNP:rs13225917</ul>									rs13225917	2
A0AVI4	92305	<ul><li>L->I at 83: in dbSNP:rs798752</ul>									rs798752	2
A0AVK6	79733	<ul><li>I->V at 674: in dbSNP:rs793274</ul>									rs793274	2
A0AVT1	55236	<ul><li>A->T at 224: in dbSNP:rs10010188</ul>									rs10010188	2
A0FGR8	57488	<ul><li>C->S at 210: in dbSNP:rs13233513<li>S->G at 638: in dbSNP:rs2305473</ul>									<li>rs13233513</li><li>rs2305473</li>	2
A0FGR9	83850	<ul><li>P->Q at 246: in dbSNP:rs17857138<li>G->R at 416: in dbSNP:rs6772467<li>G->R at 590: in dbSNP:rs10935282</ul>									<li>rs6772467</li><li>rs10935282</li><li>rs17857138</li>	2
A0JNW5	23074	<ul><li>S->L at 1147: in dbSNP:rs7296162<li>I->V at 1175: in dbSNP:rs17029945</ul>									<li>rs17029945</li><li>rs7296162</li>	2
A0PJK1	125206	<ul><li>A->V at 522: in dbSNP:rs12604020</ul>									rs12604020	2
A0PJW6	79064	<ul><li>T->A at 28: in dbSNP:rs2584918<li>V->G at 196: in dbSNP:rs11827177</ul>									<li>rs2584918</li><li>rs11827177</li>	2
A0PJW8	92196	<ul><li>L->P at 60: in dbSNP:rs9869<li>A->T at 66: in dbSNP:rs10497199</ul>									<li>rs10497199</li><li>rs9869</li>	2
A0PJX0	130106	<ul><li>H->R at 181: in dbSNP:rs935172</ul>									rs935172	2
A0PJX2	140711	<ul><li>G->R at 102: in dbSNP:rs3748460</ul>									rs3748460	2
A0PJX4	152573	<ul><li>W->C at 13: in dbSNP:rs11733156</ul>									rs11733156	2
A0PJX8	388595	<ul><li>R->H at 284: in dbSNP:rs11580250</ul>									rs11580250	2
A0PK11	645104	<ul><li>L->V at 113: in dbSNP:rs13147559<li>A->T at 153: in dbSNP:rs2597791</ul>									<li>rs2597791</li><li>rs13147559</li>	2
A1A4F0	152078	<ul><li>V->L at 4: in dbSNP:rs7616293</ul>									rs7616293	2
A1A4S6	79658	<ul><li>P->S at 488: in dbSNP:rs17024215<li>M->V at 684: in dbSNP:rs2276932</ul>									<li>rs17024215</li><li>rs2276932</li>	2
A1A4Y4		<ul><li>E->D at 17<li>T->K at 94</ul>										2
A1A519	340069	<ul><li>P->S at 173: in dbSNP:rs328694</ul>									rs328694	2
A1A5B4	338440	<ul><li>F->L at 93: in dbSNP:rs7395065<li>I->V at 391: in dbSNP:rs10794324<li>C->R at 399: in dbSNP:rs10794323</ul>									<li>rs10794323</li><li>rs10794324</li><li>rs7395065</li>	2
A1A5D9	146439	<ul><li>R->Q at 273: in dbSNP:rs2244494</ul>									rs2244494	2
A1E959	54959	<ul><li>I->T at 222: in dbSNP:rs3196714<li>E->D at 269: in a colorectal cancer sample; somatic mutation</ul>									rs3196714	2
A1IGU5	389337	<ul><li>M->L at 421: in dbSNP:rs4629585<li>P->L at 489: in dbSNP:rs9324624<li>S->R at 518: in dbSNP:rs7732714<li>P->T at 586: in dbSNP:rs3733662<li>M->V at 604: in dbSNP:rs1135093</ul>									<li>rs3733662</li><li>rs1135093</li><li>rs7732714</li><li>rs4629585</li><li>rs9324624</li>	2
A1KZ92	137902	<ul><li>I->T at 343: in dbSNP:rs7833909<li>R->Q at 583: in dbSNP:rs16916235<li>D->A at 616: in dbSNP:rs16916207<li>V->M at 981: in dbSNP:rs2977020<li>V->D at 1327: in dbSNP:rs11774588<li>R->K at 1399: in dbSNP:rs7827446<li>D->E at 1452: in dbSNP:rs1052704</ul>									<li>rs7833909</li><li>rs2977020</li><li>rs16916207</li><li>rs7827446</li><li>rs11774588</li><li>rs1052704</li><li>rs16916235</li>	2
A1L0T0	10994	<ul><li>N->D at 374: in dbSNP:rs17856373</ul>									rs17856373	2
A1L157	441631	<ul><li>V->A at 190: in dbSNP:rs2075333</ul>									rs2075333	2
A1L390	26030	<ul><li>R->W at 1036: in dbSNP:rs229649</ul>									rs229649	2
A1L453	339501	<ul><li>M->V at 204: in dbSNP:rs9426581</ul>									rs9426581	2
A1L4K1	123722	<ul><li>K->T at 333: in dbSNP:rs4779061<li>E->K at 720: in dbSNP:rs1108134</ul>									<li>rs4779061</li><li>rs1108134</li>	2
A1L4L8	153770	<ul><li>C->S at 11: in dbSNP:rs12187913</ul>									rs12187913	2
A1X283		<ul><li>Y->F at 101: in dbSNP:rs6880739</ul>									rs6880739	2
A2A288	340152	<ul><li>P->L at 53: in dbSNP:rs7747948<li>K->R at 106: in some sporadic lung cancer sample; appears to cause loss of tumor suppressor activity</ul>									rs7747948	2
A2A2Y4	257019	<ul><li>D->Y at 485: in dbSNP:rs4877747</ul>									rs4877747	2
A2A368		<ul><li>L->F at 38: in dbSNP:rs1410961<li>C->Y at 128: in dbSNP:rs1410962<li>H->R at 161: in dbSNP:rs5973488<li>M->K at 248: in dbSNP:rs4829391<li>M->V at 248: in dbSNP:rs4829390</ul>									<li>rs5973488</li><li>rs1410962</li><li>rs1410961</li><li>rs4829390</li><li>rs4829391</li>	2
A2A3K4	138639	<ul><li>L->Q at 571: in dbSNP:rs16909677</ul>									rs16909677	2
A2A3L6		<ul><li>E->G at 231: in dbSNP:rs6682716<li>P->A at 532: in dbSNP:rs17392348<li>N->S at 550: in dbSNP:rs12090808</ul>									<li>rs6682716</li><li>rs17392348</li><li>rs12090808</li>	2
A2CJ06	391475	<ul><li>Y->C at 241: in dbSNP:rs16838593<li>Q->K at 474: in dbSNP:rs2115591</ul>									<li>rs2115591</li><li>rs16838593</li>	2
A2IDD5	124093	<ul><li>W->R at 252: in dbSNP:rs2071950</ul>									rs2071950	2
A2PYH4	164045	<ul><li>S->P at 115: in dbSNP:rs11165778<li>I->V at 117: in dbSNP:rs282009<li>I->V at 939: in dbSNP:rs11584478</ul>									<li>rs11165778</li><li>rs282009</li><li>rs11584478</li>	2
A2RRH5	253769	<ul><li>L->P at 133: in dbSNP:rs4236176<li>V->L at 393: in dbSNP:rs35895089<li>R->H at 437: in dbSNP:rs3800544<li>P->L at 470: in dbSNP:rs34313252<li>A->V at 697: in dbSNP:rs9396946</ul>									<li>rs34313252</li><li>rs3800544</li><li>rs35895089</li><li>rs9396946</li><li>rs4236176</li>	2
A2RTY3	256957	<ul><li>I->M at 330: in a breast cancer sample; somatic mutation<li>S->F at 480: in dbSNP:rs2306630</ul>									rs2306630	2
A2RU30	9840	<ul><li>E->K at 496: in dbSNP:rs997173</ul>									rs997173	2
A2RU48	440087	<ul><li>C->R at 49: in dbSNP:rs11609202<li>K->R at 75: in dbSNP:rs2241221</ul>									<li>rs11609202</li><li>rs2241221</li>	2
A2RUB1		<ul><li>M->L at 145: in dbSNP:rs8073475<li>N->T at 154: in dbSNP:rs9907151</ul>									<li>rs8073475</li><li>rs9907151</li>	2
A2RUB6	285331	<ul><li>Q->R at 266: in dbSNP:rs1491170<li>Q->R at 383: in dbSNP:rs1491170<li>R->Q at 460: in dbSNP:rs7637449<li>E->K at 592: in dbSNP:rs4681904</ul>									<li>rs4681904</li><li>rs7637449</li><li>rs1491170</li>	2
A2RUC4	129450	<ul><li>S->G at 50: in dbSNP:rs10497844</ul>									rs10497844	2
A2RUH7	343263	<ul><li>N->D at 269: in dbSNP:rs629001</ul>									rs629001	2
A2RUQ5	400591	<ul><li>G->R at 98: in dbSNP:rs58529418<li>R->K at 155: in dbSNP:rs887230</ul>									<li>rs887230</li><li>rs58529418</li>	2
A2RUS2	22898	<ul><li>S->N at 143: in dbSNP:rs307761<li>Q->R at 364: in dbSNP:rs11997191</ul>									<li>rs11997191</li><li>rs307761</li>	2
A2RUT3	440955	<ul><li>P->T at 61: in dbSNP:rs9834639</ul>									rs9834639	2
A2RUU4	340204	<ul><li>F->S at 15: in dbSNP:rs34109614</ul>									rs34109614	2
A2VDJ0	23240	<ul><li>I->V at 604: in dbSNP:rs7669418<li>M->T at 645: in dbSNP:rs17370297<li>S->Y at 1110: in dbSNP:rs755078<li>N->S at 1254: in dbSNP:rs35018723<li>A->P at 1392: in dbSNP:rs35543386</ul>									<li>rs7669418</li><li>rs17370297</li><li>rs35543386</li><li>rs35018723</li><li>rs755078</li>	2
A2VEC9	23145	<ul><li>Q->R at 146: in dbSNP:rs709061<li>V->M at 298: in dbSNP:rs17754559<li>L->P at 1273: in dbSNP:rs709060<li>S->I at 4033: in dbSNP:rs1005603</ul>									<li>rs709060</li><li>rs709061</li><li>rs17754559</li><li>rs1005603</li>	2
A3KMH1	23078	<ul><li>R->H at 165: in dbSNP:rs9562362<li>M->T at 383: in dbSNP:rs3742262<li>G->R at 408: in dbSNP:rs17062601<li>R->G at 660: in dbSNP:rs9562353<li>E->K at 1300: in dbSNP:rs2274810</ul>									<li>rs17062601</li><li>rs9562362</li><li>rs9562353</li><li>rs2274810</li><li>rs3742262</li>	2
A3KN83	55206	<ul><li>T->S at 634: in a breast cancer sample; somatic mutation<li>S->N at 728: in dbSNP:rs1060105<li>E->K at 889: in a breast cancer sample; somatic mutation<li>S->C at 997: in a breast cancer sample; somatic mutation</ul>									rs1060105	2
A4D0S4	22798	<ul><li>M->T at 44: in dbSNP:rs35644375<li>H->Y at 234: in dbSNP:rs2074749<li>V->F at 591: in dbSNP:rs9690688<li>N->S at 866: in dbSNP:rs2240445<li>T->N at 1350: in dbSNP:rs10260756<li>H->Y at 1510: in dbSNP:rs1627354<li>R->S at 1612: in dbSNP:rs2528693</ul>									<li>rs1627354</li><li>rs10260756</li><li>rs2074749</li><li>rs2528693</li><li>rs9690688</li><li>rs2240445</li><li>rs35644375</li>	2
A4D0V7	79974	<ul><li>I->T at 326: in dbSNP:rs17143165<li>A->G at 551: in dbSNP:rs41281692<li>E->G at 708: in dbSNP:rs35793694<li>K->T at 949: in dbSNP:rs798911</ul>									<li>rs35793694</li><li>rs17143165</li><li>rs41281692</li><li>rs798911</li>	2
A4D161	340277	<ul><li>Y->H at 20: in dbSNP:rs17855785<li>A->T at 90: in dbSNP:rs34518648<li>C->R at 95: in dbSNP:rs35495590<li>H->R at 128: in dbSNP:rs17855786<li>S->G at 240: in dbSNP:rs35928055</ul>									<li>rs17855785</li><li>rs17855786</li><li>rs35495590</li><li>rs35928055</li><li>rs34518648</li>	2
A4D1B5	54103	<ul><li>H->R at 47: in dbSNP:rs6949654<li>G->E at 305: in dbSNP:rs1527263<li>V->I at 649: in dbSNP:rs17151692<li>W->L at 653: in dbSNP:rs17151689</ul>									<li>rs1527263</li><li>rs17151692</li><li>rs17151689</li><li>rs6949654</li>	2
A4D1E9	85865	<ul><li>C->W at 88: in dbSNP:rs42663<li>N->S at 110: in dbSNP:rs42664<li>L->F at 164: in dbSNP:rs35001814<li>M->I at 368: in dbSNP:rs17863999</ul>									<li>rs35001814</li><li>rs17863999</li><li>rs42664</li><li>rs42663</li>	2
A4D1P6	29062	<ul><li>L->P at 257: in dbSNP:rs292592</ul>									rs292592	2
A4D1S0	346689	<ul><li>T->K at 152: in dbSNP:rs1860150<li>G->A at 339: in dbSNP:rs17160911</ul>									<li>rs1860150</li><li>rs17160911</li>	2
A4D1T9		<ul><li>T->P at 119: in dbSNP:rs12669721</ul>									rs12669721	2
A4D256		<ul><li>P->S at 238: in dbSNP:rs1615556<li>I->L at 296: in dbSNP:rs421206</ul>									<li>rs1615556</li><li>rs421206</li>	2
A4D2B0	255374	<ul><li>P->H at 79: in dbSNP:rs17852945<li>H->N at 114: in dbSNP:rs17852946</ul>									<li>rs17852945</li><li>rs17852946</li>	2
A4D2P6	392862	<ul><li>R->Q at 20: in dbSNP:rs11761490</ul>									rs11761490	2
A4FU01	10903	<ul><li>M->V at 159: in dbSNP:rs11205303<li>Q->P at 531: in dbSNP:rs16836857</ul>									<li>rs11205303</li><li>rs16836857</li>	2
A4FU49	79729	<ul><li>S->A at 217: in dbSNP:rs12121759</ul>									rs12121759	2
A4FU69	374786	<ul><li>L->V at 237: in dbSNP:rs9897794<li>K->I at 278: in dbSNP:rs4795524<li>R->S at 561: in dbSNP:rs9900546<li>A->D at 1145: in dbSNP:rs9894896<li>V->A at 1252: in dbSNP:rs4499292<li>R->T at 1274: in dbSNP:rs35724168<li>D->Y at 1488: in dbSNP:rs5024269</ul>									<li>rs9894896</li><li>rs4499292</li><li>rs4795524</li><li>rs9897794</li><li>rs5024269</li><li>rs9900546</li><li>rs35724168</li>	2
A4QMS7	134121	<ul><li>Q->H at 68: in dbSNP:rs6883562<li>E->K at 87: in dbSNP:rs16879215<li>P->S at 139: in dbSNP:rs326181</ul>									<li>rs326181</li><li>rs6883562</li><li>rs16879215</li>	2
A4QMU0	221261	<ul><li>I->T at 84: in dbSNP:rs6927569</ul>									rs6927569	2
A4QPB2	91355	<ul><li>T->M at 61: in dbSNP:rs17616994</ul>									rs17616994	2
A4QPH2		<ul><li>E->Q at 223: in dbSNP:rs2930770</ul>									rs2930770	2
A4UGR9	129446	<ul><li>P->A at 450: in dbSNP:rs16853305<li>Y->H at 457: in dbSNP:rs16853306<li>I->T at 1397: in dbSNP:rs7588159<li>I->T at 1488: in dbSNP:rs7591107<li>R->H at 1626: in dbSNP:rs16853309<li>N->S at 1833: in dbSNP:rs7607246<li>L->R at 2423: in dbSNP:rs16853326<li>S->N at 2553: in dbSNP:rs16853328<li>H->Y at 2595: in dbSNP:rs16853329<li>V->I at 2607: in dbSNP:rs16853330<li>G->D at 2728: in dbSNP:rs3749002<li>A->T at 2910: in dbSNP:rs16853331<li>Y->C at 2975: in dbSNP:rs3749003<li>I->V at 3022: in dbSNP:rs3749004<li>G->E at 3202: in dbSNP:rs16853333</ul>									<li>rs16853305</li><li>rs16853306</li><li>rs16853329</li><li>rs16853309</li><li>rs16853328</li><li>rs16853326</li><li>rs16853330</li><li>rs16853331</li><li>rs16853333</li><li>rs7607246</li><li>rs7591107</li><li>rs7588159</li><li>rs3749004</li><li>rs3749002</li><li>rs3749003</li>	2
A5D8V6	55048	<ul><li>V->D at 182: in dbSNP:rs2232142<li>S->L at 198: in dbSNP:rs754382<li>S->A at 261: in dbSNP:rs4297482</ul>									<li>rs2232142</li><li>rs754382</li><li>rs4297482</li>	2
A5D8V7	115948	<ul><li>R->P at 545: in dbSNP:rs34619515</ul>									rs34619515	2
A5D8W1	79846	<ul><li>S->R at 22: in dbSNP:rs17862129<li>R->C at 306: in dbSNP:rs17866223<li>P->L at 459: in dbSNP:rs17865959<li>V->M at 490: in dbSNP:rs1029365<li>T->M at 885: in dbSNP:rs17865475</ul>									<li>rs17862129</li><li>rs1029365</li><li>rs17866223</li><li>rs17865959</li><li>rs17865475</li>	2
A5LHX3	122706	<ul><li>G->S at 49: in dbSNP:rs34457782</ul>									rs34457782	2
A5PLK6	353299	<ul><li>E->D at 5: in dbSNP:rs12083859<li>W->C at 256: in dbSNP:rs647224</ul>									<li>rs12083859</li><li>rs647224</li>	2
A5PLL1	340120	<ul><li>S->L at 156: in dbSNP:rs32857</ul>									rs32857	2
A5PLN7	25854	<ul><li>K->E at 332: in dbSNP:rs4862650<li>K->E at 437: in dbSNP:rs4862653<li>H->R at 505: in dbSNP:rs2276924<li>P->L at 532: in dbSNP:rs2276922<li>R->W at 722: in dbSNP:rs9991339<li>L->V at 748: in dbSNP:rs6818265</ul>									<li>rs2276924</li><li>rs2276922</li><li>rs4862650</li><li>rs9991339</li><li>rs4862653</li><li>rs6818265</li>	2
A5X5Y0	285242	<ul><li>A->T at 71: in dbSNP:rs7627615<li>A->T at 430: in dbSNP:rs13324468</ul>									<li>rs7627615</li><li>rs13324468</li>	2
A5YKK6	23019	<ul><li>D->A at 603: in dbSNP:rs17854028</ul>									rs17854028	2
A5YM72	57571	<ul><li>P->T at 14: in dbSNP:rs868167</ul>									rs868167	2
A6BM72	84465	<ul><li>H->R at 242: in dbSNP:rs333550</ul>									rs333550	2
A6H8M9	389118	<ul><li>R->K at 5: in dbSNP:rs13072748</ul>									rs13072748	2
A6H8Y1	55814	<ul><li>E->D at 38: in dbSNP:rs3748043<li>C->R at 757: in dbSNP:rs3761966<li>V->M at 778: in dbSNP:rs3761967<li>M->I at 1264: in dbSNP:rs715747<li>M->V at 1347: in dbSNP:rs6886336<li>K->E at 1469: in dbSNP:rs1698063<li>L->I at 2013: in dbSNP:rs6453014</ul>									<li>rs3761967</li><li>rs3761966</li><li>rs715747</li><li>rs6453014</li><li>rs6886336</li><li>rs3748043</li><li>rs1698063</li>	2
A6NC51	284417	<ul><li>L->F at 199: in dbSNP:rs7246479</ul>									rs7246479	2
A6NC57	342850	<ul><li>A->S at 174: in dbSNP:rs1986751<li>C->R at 251: in dbSNP:rs6505715<li>E->K at 392: in dbSNP:rs4519391<li>A->T at 599: in dbSNP:rs7243248</ul>									<li>rs4519391</li><li>rs7243248</li><li>rs1986751</li><li>rs6505715</li>	2
A6NC98	283234	<ul><li>D->E at 193: in dbSNP:rs647152<li>W->R at 639: in dbSNP:rs685870<li>D->A at 886: in dbSNP:rs1318165</ul>									<li>rs685870</li><li>rs1318165</li><li>rs647152</li>	2
A6NCF5		<ul><li>R->H at 163: in dbSNP:rs12587478<li>R->Q at 176: in dbSNP:rs17242648<li>E->G at 345: in dbSNP:rs1953225<li>A->T at 516: in dbSNP:rs7145318</ul>									<li>rs17242648</li><li>rs7145318</li><li>rs1953225</li><li>rs12587478</li>	2
A6NCV1	254783	<ul><li>R->G at 2: in dbSNP:rs7301705<li>L->F at 61: in dbSNP:rs11171388<li>Y->C at 75: in dbSNP:rs4388990<li>G->D at 86: in dbSNP:rs6581025<li>R->C at 120: in dbSNP:rs4321039</ul>									<li>rs4388990</li><li>rs4321039</li><li>rs6581025</li><li>rs11171388</li><li>rs7301705</li>	2
A6ND36	644815	<ul><li>I->T at 109: in dbSNP:rs2074283</ul>									rs2074283	2
A6ND48	401994	<ul><li>V->A at 36: in dbSNP:rs4462184<li>D->N at 50: in dbSNP:rs4509608<li>S->N at 170: in dbSNP:rs2000390</ul>									<li>rs4462184</li><li>rs4509608</li><li>rs2000390</li>	2
A6NDA9	340745	<ul><li>C->Y at 28: in dbSNP:rs12773843<li>K->N at 179: in dbSNP:rs11200927<li>L->F at 220: in dbSNP:rs11200925<li>V->A at 496: in dbSNP:rs12217769<li>T->P at 510: in dbSNP:rs6585847</ul>									<li>rs11200927</li><li>rs12217769</li><li>rs6585847</li><li>rs11200925</li><li>rs12773843</li>	2
A6NDB9	342979	<ul><li>A->T at 440: in dbSNP:rs11880169</ul>									rs11880169	2
A6NDH6	403274	<ul><li>V->I at 108: in dbSNP:rs4133320<li>S->T at 148: in dbSNP:rs4133321<li>T->S at 167: in dbSNP:rs4133322</ul>									<li>rs4133322</li><li>rs4133321</li><li>rs4133320</li>	2
A6NDI0	283116	<ul><li>L->M at 398: in dbSNP:rs2696914</ul>									rs2696914	2
A6NDN3	55889	<ul><li>R->W at 200: in dbSNP:rs2081561</ul>									rs2081561	2
A6NDU8	285636	<ul><li>Q->H at 20: in dbSNP:rs12520325</ul>									rs12520325	2
A6NDX5		<ul><li>Y->C at 181: in dbSNP:rs3752261</ul>									rs3752261	2
A6NE52		<ul><li>R->G at 149: in dbSNP:rs4977196<li>H->Q at 427: in dbSNP:rs34324679<li>E->G at 537: in dbSNP:rs13250446</ul>									<li>rs34324679</li><li>rs13250446</li><li>rs4977196</li>	2
A6NED2	91433	<ul><li>A->S at 8: in dbSNP:rs4932380</ul>									rs4932380	2
A6NEL2	345079	<ul><li>P->T at 377: in dbSNP:rs2703130</ul>									rs2703130	2
A6NEN9	158830	<ul><li>R->H at 156: in dbSNP:rs12009522</ul>									rs12009522	2
A6NEQ2	220382	<ul><li>V->L at 186: in dbSNP:rs986097<li>R->P at 367: in dbSNP:rs6592081</ul>									<li>rs6592081</li><li>rs986097</li>	2
A6NER3	729396	<ul><li>Y->C at 9: in dbSNP:rs7064096<li>R->S at 13: in dbSNP:rs7064105<li>P->R at 16: in dbSNP:rs6520418<li>R->Q at 28: in dbSNP:rs7064530</ul>									<li>rs7064105</li><li>rs6520418</li><li>rs7064096</li><li>rs7064530</li>	2
A6NES4		<ul><li>A->D at 41: in dbSNP:rs6431631<li>Y->H at 301: in dbSNP:rs1500481<li>E->G at 359: in dbSNP:rs2361503<li>K->N at 519: in dbSNP:rs11563246<li>W->R at 1008: in dbSNP:rs726016<li>Q->E at 1071: in dbSNP:rs719418<li>S->I at 1105: in dbSNP:rs17864722<li>F->S at 1137: in dbSNP:rs1500480<li>R->C at 1171: in dbSNP:rs28900688<li>V->M at 1214: in dbSNP:rs6734083<li>V->M at 1402: in dbSNP:rs17868361<li>M->V at 1405: in dbSNP:rs11676792<li>A->T at 1442: in dbSNP:rs28900693<li>T->A at 1486: in dbSNP:rs28900694<li>M->V at 1569: in dbSNP:rs11563074<li>F->L at 1578: in dbSNP:rs28900700<li>A->T at 1594: in dbSNP:rs879665<li>V->I at 1601: in dbSNP:rs879664<li>P->L at 1675: in dbSNP:rs2270856</ul>									<li>rs11676792</li><li>rs1500481</li><li>rs2270856</li><li>rs28900700</li><li>rs11563246</li><li>rs17864722</li><li>rs28900694</li><li>rs28900693</li><li>rs1500480</li><li>rs6734083</li><li>rs719418</li><li>rs879665</li><li>rs28900688</li><li>rs11563074</li><li>rs879664</li><li>rs17868361</li><li>rs6431631</li><li>rs2361503</li><li>rs726016</li>	2
A6NET4	403277	<ul><li>G->D at 44: in dbSNP:rs13068323</ul>									rs13068323	2
A6NF34		<ul><li>P->R at 547: in dbSNP:rs7091749</ul>									rs7091749	2
A6NF89	283365	<ul><li>T->I at 190: in dbSNP:rs11171402</ul>									rs11171402	2
A6NFD8	391723	<ul><li>L->V at 147: in dbSNP:rs1078461</ul>									rs1078461	2
A6NFN9	389161	<ul><li>R->W at 217: in dbSNP:rs7645720<li>I->M at 306: in dbSNP:rs3821406<li>S->G at 386: in dbSNP:rs7610425</ul>									<li>rs7610425</li><li>rs7645720</li><li>rs3821406</li>	2
A6NFR6	285679	<ul><li>R->C at 55: in dbSNP:rs1319931<li>L->P at 56: in dbSNP:rs13168357</ul>									<li>rs1319931</li><li>rs13168357</li>	2
A6NFU8	145814	<ul><li>V->A at 142: in dbSNP:rs2715423<li>E->Q at 169: in dbSNP:rs1521484</ul>									<li>rs2715423</li><li>rs1521484</li>	2
A6NG73	136157	<ul><li>I->V at 16: in dbSNP:rs2402730</ul>									rs2402730	2
A6NGA9	338949	<ul><li>M->L at 204: in dbSNP:rs16956904</ul>									rs16956904	2
A6NGB9	644150	<ul><li>E->G at 321: in dbSNP:rs3750092</ul>									rs3750092	2
A6NGD5	649137	<ul><li>Q->R at 24: in dbSNP:rs10419548<li>Q->R at 181: in dbSNP:rs4801690<li>E->D at 197: in dbSNP:rs12979551<li>Q->K at 259: in dbSNP:rs1865102</ul>									<li>rs12979551</li><li>rs10419548</li><li>rs1865102</li><li>rs4801690</li>	2
A6NGE4	139425	<ul><li>R->W at 549: in dbSNP:rs12388557</ul>									rs12388557	2
A6NGE7	646625	<ul><li>Q->P at 57: in dbSNP:rs3897926</ul>									rs3897926	2
A6NGG8	388939	<ul><li>S->C at 13: in dbSNP:rs10084168<li>K->R at 421: in dbSNP:rs17007544<li>T->M at 580: in dbSNP:rs10166913<li>L->V at 792: in dbSNP:rs17744093<li>P->L at 1254: in dbSNP:rs1975713</ul>									<li>rs10084168</li><li>rs10166913</li><li>rs1975713</li><li>rs17007544</li><li>rs17744093</li>	2
A6NGQ2	441161	<ul><li>A->T at 18: in dbSNP:rs2280286<li>A->V at 92: in dbSNP:rs496530</ul>									<li>rs2280286</li><li>rs496530</li>	2
A6NGR9	642475	<ul><li>H->Q at 97: in dbSNP:rs4873803<li>V->A at 132: in dbSNP:rs4874153<li>T->I at 134: in dbSNP:rs10866911</ul>									<li>rs4874153</li><li>rs4873803</li><li>rs10866911</li>	2
A6NGY5		<ul><li>T->A at 20: in dbSNP:rs17324812<li>F->S at 73: in dbSNP:rs11033801<li>R->M at 74: in dbSNP:rs11033800<li>H->R at 232: in dbSNP:rs11033793<li>D->Y at 301: in dbSNP:rs1030726</ul>									<li>rs17324812</li><li>rs11033793</li><li>rs1030726</li><li>rs11033801</li><li>rs11033800</li>	2
A6NGZ7		<ul><li>G->R at 192: in dbSNP:rs4276583</ul>									rs4276583	2
A6NH00	343172	<ul><li>G->S at 39: in dbSNP:rs11204563<li>W->R at 49: in dbSNP:rs11204564<li>T->A at 179: in dbSNP:rs4584426<li>M->R at 197: in dbSNP:rs4474294<li>A->S at 221: in dbSNP:rs4362017<li>R->W at 305: in dbSNP:rs6695357</ul>									<li>rs4584426</li><li>rs6695357</li><li>rs4362017</li><li>rs4474294</li><li>rs11204564</li><li>rs11204563</li>	2
A6NHA9	119749	<ul><li>S->F at 240: in dbSNP:rs11246607<li>C->Y at 252: in dbSNP:rs11246608<li>K->R at 288: in dbSNP:rs11246609</ul>									<li>rs11246607</li><li>rs11246608</li><li>rs11246609</li>	2
A6NHG9	403273	<ul><li>G->R at 64: in dbSNP:rs4241468<li>Y->C at 189: in dbSNP:rs4857076</ul>									<li>rs4241468</li><li>rs4857076</li>	2
A6NHL2	79861	<ul><li>Q->H at 135: in dbSNP:rs11818372<li>R->W at 250: in dbSNP:rs34080891</ul>									<li>rs34080891</li><li>rs11818372</li>	2
A6NHN0	131149	<ul><li>E->A at 470: in dbSNP:rs3921595</ul>									rs3921595	2
A6NHR9	23347	<ul><li>V->I at 708: in dbSNP:rs2276092<li>K->N at 879: in dbSNP:rs633422<li>I->V at 960: in dbSNP:rs9961682</ul>									<li>rs2276092</li><li>rs9961682</li><li>rs633422</li>	2
A6NI79	26112	<ul><li>R->K at 197: in dbSNP:rs248427</ul>									rs248427	2
A6NIJ9	390327	<ul><li>L->P at 181: in dbSNP:rs10747756</ul>									rs10747756	2
A6NIM6	729025	<ul><li>H->Q at 141: in dbSNP:rs1799516<li>P->L at 271: in dbSNP:rs1527014<li>D->E at 494: in dbSNP:rs1671511<li>E->K at 508: in dbSNP:rs3946358</ul>									<li>rs1527014</li><li>rs1671511</li><li>rs1799516</li><li>rs3946358</li>	2
A6NIV6	344657	<ul><li>K->E at 159: in dbSNP:rs16854411</ul>									rs16854411	2
A6NJ78	196074	<ul><li>N->K at 31: in dbSNP:rs2883478<li>A->T at 149: in dbSNP:rs11823114</ul>									<li>rs2883478</li><li>rs11823114</li>	2
A6NJG6	503582	<ul><li>R->Q at 145: in dbSNP:rs9813391</ul>									rs9813391	2
A6NJH2		<ul><li>Q->R at 250: in dbSNP:rs1051532</ul>									rs1051532	2
A6NJL1	342933	<ul><li>P->S at 187: in dbSNP:rs527025<li>V->I at 208: in dbSNP:rs4801296<li>S->T at 236: in dbSNP:rs10425951<li>S->T at 304: in dbSNP:rs892183<li>M->L at 412: in dbSNP:rs16987048</ul>									<li>rs16987048</li><li>rs892183</li><li>rs527025</li><li>rs4801296</li><li>rs10425951</li>	2
A6NJV1	339778	<ul><li>Q->H at 66: in dbSNP:rs13002673<li>Q->L at 177: in dbSNP:rs2272466</ul>									<li>rs13002673</li><li>rs2272466</li>	2
A6NJZ3	403282	<ul><li>L->Q at 13: in dbSNP:rs12424958<li>T->A at 222: in dbSNP:rs7971073</ul>									<li>rs7971073</li><li>rs12424958</li>	2
A6NK53	353355	<ul><li>S->P at 247: in dbSNP:rs16978899<li>T->K at 531: in dbSNP:rs1233428</ul>									<li>rs16978899</li><li>rs1233428</li>	2
A6NK89		<ul><li>Q->H at 194: in dbSNP:rs4323847</ul>									rs4323847	2
A6NK97	440044	<ul><li>A->D at 58: in dbSNP:rs11605576<li>A->V at 139: in dbSNP:rs12420456</ul>									<li>rs11605576</li><li>rs12420456</li>	2
A6NKB5	80003	<ul><li>R->K at 117: in dbSNP:rs1033325<li>T->A at 454: in dbSNP:rs10910120</ul>									<li>rs1033325</li><li>rs10910120</li>	2
A6NKC4		<ul><li>P->L at 105: in dbSNP:rs619322<li>T->M at 115: in dbSNP:rs619366<li>K->M at 171: in dbSNP:rs658149<li>H->R at 175: in dbSNP:rs658160</ul>									<li>rs658149</li><li>rs619366</li><li>rs619322</li><li>rs658160</li>	2
A6NKF1		<ul><li>T->P at 8: in dbSNP:rs10160811<li>L->P at 186: in dbSNP:rs3741390</ul>									<li>rs10160811</li><li>rs3741390</li>	2
A6NKF2	138715	<ul><li>R->Q at 310: in dbSNP:rs12337871<li>C->G at 335: in dbSNP:rs3808869</ul>									<li>rs3808869</li><li>rs12337871</li>	2
A6NKG5	388015	<ul><li>E->Q at 849: in dbSNP:rs11623267</ul>									rs11623267	2
A6NKK0	26341	<ul><li>S->T at 148: in dbSNP:rs5009896<li>V->I at 150: in dbSNP:rs5009895<li>I->L at 153: in dbSNP:rs9845327<li>T->I at 181: in dbSNP:rs9826076<li>S->T at 230: in dbSNP:rs9849637</ul>									<li>rs5009896</li><li>rs9845327</li><li>rs9826076</li><li>rs9849637</li><li>rs5009895</li>	2
A6NKW6	100132916	<ul><li>S->R at 5: in dbSNP:rs16893053<li>A->P at 111: in dbSNP:rs2305962</ul>									<li>rs2305962</li><li>rs16893053</li>	2
A6NL05	100133021	<ul><li>D->Y at 12: in dbSNP:rs11793234<li>R->K at 72: in dbSNP:rs2261191<li>R->T at 86: in dbSNP:rs6423979</ul>									<li>rs6423979</li><li>rs11793234</li><li>rs2261191</li>	2
A6NL08	390323	<ul><li>L->F at 141: in dbSNP:rs7976023<li>A->D at 235: in dbSNP:rs7976416</ul>									<li>rs7976416</li><li>rs7976023</li>	2
A6NL71	729884	<ul><li>Y->C at 303: in dbSNP:rs976002</ul>									rs976002	2
A6NLB4	729800	<ul><li>W->R at 263: in dbSNP:rs11248317</ul>									rs11248317	2
A6NLF2	653420	<ul><li>P->L at 375: in dbSNP:rs2261291</ul>									rs2261291	2
A6NLJ0	388125	<ul><li>F->V at 276: in dbSNP:rs8040712<li>D->E at 346: in dbSNP:rs1055090</ul>									<li>rs1055090</li><li>rs8040712</li>	2
A6NLP5	143941	<ul><li>I->M at 78: in dbSNP:rs7111428</ul>									rs7111428	2
A6NM03	338755	<ul><li>Y->C at 28: in dbSNP:rs7102536<li>R->P at 54: in dbSNP:rs10839616<li>R->L at 87: in dbSNP:rs11828782<li>R->G at 299: in dbSNP:rs7924459</ul>									<li>rs7924459</li><li>rs7102536</li><li>rs10839616</li><li>rs11828782</li>	2
A6NM43	155100	<ul><li>C->S at 217: in dbSNP:rs6969304<li>D->N at 308: in dbSNP:rs12672139<li>S->G at 395: in dbSNP:rs6953943</ul>									<li>rs12672139</li><li>rs6969304</li><li>rs6953943</li>	2
A6NMB9	401720	<ul><li>T->P at 366: in dbSNP:rs303819</ul>									rs303819	2
A6NMN3		<ul><li>R->L at 69: in dbSNP:rs17773851</ul>									rs17773851	2
A6NMS3	403278	<ul><li>I->V at 206: in dbSNP:rs9822460</ul>									rs9822460	2
A6NMU1	390053	<ul><li>D->G at 87: in dbSNP:rs7947334<li>Y->S at 180: in dbSNP:rs10837375<li>C->R at 277: in dbSNP:rs4426129</ul>									<li>rs10837375</li><li>rs4426129</li><li>rs7947334</li>	2
A6NMX2	253314	<ul><li>D->Y at 227: in dbSNP:rs13163938</ul>									rs13163938	2
A6NMZ7	131873	<ul><li>E->K at 345: in dbSNP:rs4613427<li>A->T at 370: in dbSNP:rs9830253<li>E->A at 461: in dbSNP:rs11921769<li>R->Q at 1739: in dbSNP:rs16830494<li>H->R at 1799: in dbSNP:rs7614116</ul>									<li>rs7614116</li><li>rs4613427</li><li>rs9830253</li><li>rs11921769</li><li>rs16830494</li>	2
A6NNN8	146167	<ul><li>S->T at 220: in dbSNP:rs11862366</ul>									rs11862366	2
A6NNS2		<ul><li>S->L at 227: in dbSNP:rs2280490</ul>									rs2280490	2
A6PVS8	127255	<ul><li>F->C at 35: in dbSNP:rs2274904<li>M->I at 129: in dbSNP:rs17094900<li>H->Y at 156: in dbSNP:rs17591320<li>A->T at 255: in dbSNP:rs1340472<li>I->V at 398: in dbSNP:rs17094779<li>E->K at 434: in dbSNP:rs17094777<li>L->F at 483: in dbSNP:rs17094774</ul>									<li>rs17094900</li><li>rs17094777</li><li>rs1340472</li><li>rs17094774</li><li>rs17591320</li><li>rs2274904</li><li>rs17094779</li>	2
A6PVY3	400823	<ul><li>I->S at 3: in dbSNP:rs2378607<li>Q->R at 143: in dbSNP:rs6683071</ul>									<li>rs2378607</li><li>rs6683071</li>	2
A6PW82	645090	<ul><li>I->V at 332: in dbSNP:rs16998547<li>I->M at 363: in dbSNP:rs6527558<li>H->R at 606: in dbSNP:rs6527569</ul>									<li>rs16998547</li><li>rs6527569</li><li>rs6527558</li>	2
A6QL63	121551	<ul><li>A->D at 1002: in dbSNP:rs11610050<li>G->S at 1076: in dbSNP:rs12303478</ul>									<li>rs11610050</li><li>rs12303478</li>	2
A6ZKI3	8933	<ul><li>S->N at 60: in dbSNP:rs1056977</ul>									rs1056977	2
A7E2Y1		<ul><li>P->T at 28: in dbSNP:rs17092199<li>F->Y at 459: in dbSNP:rs754511<li>P->S at 738: in dbSNP:rs3746442<li>E->K at 965: in dbSNP:rs2425015<li>K->N at 1510: in dbSNP:rs3746435<li>A->V at 1539: in dbSNP:rs6060147<li>Q->R at 1656: in dbSNP:rs6060148<li>V->E at 1875: in dbSNP:rs7273482</ul>									<li>rs17092199</li><li>rs6060147</li><li>rs3746435</li><li>rs2425015</li><li>rs754511</li><li>rs7273482</li><li>rs3746442</li><li>rs6060148</li>	2
A7MBM2	85455	<ul><li>P->A at 47: in dbSNP:rs1898883<li>C->S at 56: in dbSNP:rs1898882<li>G->E at 388: in dbSNP:rs35043215<li>G->S at 1145: in dbSNP:rs2412512<li>R->W at 1247: in dbSNP:rs3743142</ul>									<li>rs35043215</li><li>rs1898882</li><li>rs3743142</li><li>rs2412512</li><li>rs1898883</li>	2
A7MD48	84530	<ul><li>S->N at 243: in dbSNP:rs7297606<li>R->Q at 406: in dbSNP:rs2723880<li>R->S at 547: in dbSNP:rs2555273</ul>									<li>rs2555273</li><li>rs2723880</li><li>rs7297606</li>	2
A8CG34		<ul><li>T->A at 379: in dbSNP:rs427206<li>Q->L at 1165: in dbSNP:rs365436</ul>									<li>rs365436</li><li>rs427206</li>	2
A8K0R7		<ul><li>P->S at 531: in dbSNP:rs9464<li>V->M at 693: in dbSNP:rs28646161<li>F->L at 731: in dbSNP:rs1053019</ul>									<li>rs1053019</li><li>rs9464</li><li>rs28646161</li>	2
A8K7I4	1179	<ul><li>L->F at 65: in dbSNP:rs2145412<li>R->K at 152: in dbSNP:rs2753386<li>S->N at 357: in dbSNP:rs2734705<li>E->V at 406: in dbSNP:rs1142185<li>K->R at 426: in dbSNP:rs4647852<li>T->M at 524: in dbSNP:rs2791494<li>Y->H at 661: in dbSNP:rs5744409<li>K->N at 760: in dbSNP:rs2791483</ul>									<li>rs2791483</li><li>rs4647852</li><li>rs2791494</li><li>rs1142185</li><li>rs2753386</li><li>rs2734705</li><li>rs2145412</li><li>rs5744409</li>	2
A8K855	84455	<ul><li>F->I at 27: in dbSNP:rs17125106<li>S->G at 186: in dbSNP:rs9436246<li>T->I at 248: in dbSNP:rs6693255<li>M->T at 262: in dbSNP:rs6657480<li>R->K at 375: in dbSNP:rs2273367</ul>									<li>rs9436246</li><li>rs6657480</li><li>rs6693255</li><li>rs2273367</li><li>rs17125106</li>	2
A8K8P3	9814	<ul><li>H->L at 13: in dbSNP:rs5749290<li>R->H at 72: in dbSNP:rs16989698<li>Q->H at 167: in dbSNP:rs7511430<li>Y->H at 322: in dbSNP:rs5753700<li>W->R at 330: in dbSNP:rs16989291<li>R->Q at 549: in dbSNP:rs2006771<li>L->P at 1087: in dbSNP:rs12171042</ul>									<li>rs12171042</li><li>rs5753700</li><li>rs2006771</li><li>rs16989698</li><li>rs16989291</li><li>rs7511430</li><li>rs5749290</li>	2
A8K979	112479	<ul><li>I->T at 206: in a colorectal cancer sample; somatic mutation</ul>										2
A8MPS7	150223	<ul><li>A->T at 263: in dbSNP:rs2298428</ul>									rs2298428	2
A8MPX8		<ul><li>R->H at 37: in dbSNP:rs9882323<li>F->L at 123: in dbSNP:rs7652446<li>A->T at 260: in dbSNP:rs4103004</ul>									<li>rs9882323</li><li>rs4103004</li><li>rs7652446</li>	2
A8MSP1		<ul><li>A->V at 101: in dbSNP:rs28593596</ul>									rs28593596	2
A8MT70	79740	<ul><li>P->T at 14: in dbSNP:rs10936535<li>K->N at 160: in dbSNP:rs4619784<li>K->R at 178: in dbSNP:rs11923054<li>A->G at 473: in dbSNP:rs13096767<li>I->T at 511: in dbSNP:rs35190925<li>E->K at 555: in dbSNP:rs35864545<li>A->G at 636: in dbSNP:rs12638625</ul>									<li>rs10936535</li><li>rs35190925</li><li>rs13096767</li><li>rs11923054</li><li>rs4619784</li><li>rs12638625</li><li>rs35864545</li>	2
A8MTB9		<ul><li>L->H at 160: in dbSNP:rs8106673<li>T->A at 161: in dbSNP:rs12610545</ul>									<li>rs12610545</li><li>rs8106673</li>	2
A8MTY7	728341	<ul><li>T->I at 23: in dbSNP:rs4890107<li>S->N at 130: in dbSNP:rs12948628</ul>									<li>rs12948628</li><li>rs4890107</li>	2
A8MUP2	751071	<ul><li>G->S at 125: in dbSNP:rs11231181</ul>									rs11231181	2
A8MV23	647174	<ul><li>D->N at 143: in dbSNP:rs17790811</ul>									rs17790811	2
A8MV24	388381	<ul><li>P->L at 61: in dbSNP:rs7210156</ul>									rs7210156	2
A8MVA2	732428	<ul><li>Y->C at 86: in dbSNP:rs12938692</ul>									rs12938692	2
A8MVW5	253012	<ul><li>G->R at 31: in a breast cancer sample; somatic mutation<li>K->T at 86: in dbSNP:rs10281525</ul>									rs10281525	2
A8MWL7	645203	<ul><li>R->C at 108: in dbSNP:rs5030881</ul>									rs5030881	2
A8MWY0	222223	<ul><li>N->Y at 539: in dbSNP:rs1029366<li>L->V at 729: in dbSNP:rs34412146<li>S->R at 767: in dbSNP:rs34577440</ul>									<li>rs34412146</li><li>rs34577440</li><li>rs1029366</li>	2
A8MXQ7	642574	<ul><li>T->R at 509: in dbSNP:rs4875053</ul>									rs4875053	2
A8MXV4	390916	<ul><li>R->Q at 43: in dbSNP:rs10413282</ul>									rs10413282	2
A8MXY4	7652	<ul><li>A->G at 150: in dbSNP:rs7255780</ul>									rs7255780	2
A8MYU2	157855	<ul><li>W->R at 768: in dbSNP:rs28608091<li>N->S at 916: in dbSNP:rs16885577</ul>									<li>rs28608091</li><li>rs16885577</li>	2
A8TX70	256076	<ul><li>Q->R at 2188: in dbSNP:rs9883988<li>G->D at 2205: in dbSNP:rs819085</ul>									<li>rs819085</li><li>rs9883988</li>	2
A9YTQ3	57491	<ul><li>L->P at 114: in dbSNP:rs35008248<li>A->P at 189: in dbSNP:rs2292596<li>G->V at 373: in dbSNP:rs2303738<li>D->H at 627: in dbSNP:rs34453673</ul>									<li>rs34453673</li><li>rs35008248</li><li>rs2303738</li><li>rs2292596</li>	2
A9Z1Z3		<ul><li>K->E at 1179: in dbSNP:rs1557202<li>N->S at 1183: in dbSNP:rs11698021<li>V->I at 1318: in dbSNP:rs2277862</ul>									<li>rs11698021</li><li>rs1557202</li><li>rs2277862</li>	2
B0I1T2	64005	<ul><li>V->M at 49: in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes<li>T->M at 489: in dbSNP:rs3735485<li>R->Q at 798: in dbSNP:rs2107737<li>R->Q at 861: in dbSNP:rs7792760</ul>									<li>rs2107737</li><li>rs3735485</li><li>rs7792760</li>	2
B0YJ81	9200	<ul><li>E->K at 64: in dbSNP:rs7895850<li>E->Q at 64<li>V->F at 70: in dbSNP:rs11254692<li>H->Y at 227: in dbSNP:rs1053926</ul>									<li>rs11254692</li><li>rs1053926</li><li>rs7895850</li>	2
B1AJZ9	114827	<ul><li>E->K at 763: in dbSNP:rs12126178</ul>									rs12126178	2
B1AK53	83715	<ul><li>R->H at 322: in dbSNP:rs3817911<li>Y->C at 323: in dbSNP:rs3817910<li>S->R at 719: in DFNAWVI; irregular microvillar organization, MIM: 606351<li>D->N at 744: in DFNAWVI; irregular microvillar organization, MIM: 606351<li>R->Q at 774: in DFNAWVI; sporadic case with mild phenotype; could be a rare polymorphism, MIM: 606351<li>Missing  at 848: in DFNAWVI; severe phenotype; severe impairment of microvillar elongation; espin accumulates in the nucleus, MIM: 606351</ul>					nucleus	GO:0005634		Non-syndromic sensorineural deafness autosomal dominant without vestibular involvement (DFNAWVI) [MIM:606351]	<li>rs3817910</li><li>rs3817911</li>	2
B1AKI9	140862	<ul><li>P->R at 193: in dbSNP:rs3747933</ul>									rs3747933	2
B1ANS9	128025	<ul><li>R->Q at 647: in dbSNP:rs12095445<li>R->W at 952: in dbSNP:rs12074374</ul>									<li>rs12095445</li><li>rs12074374</li>	2
B1ANY3	647044	<ul><li>W->R at 162: in dbSNP:rs1832322<li>K->N at 199: in dbSNP:rs1832323<li>K->N at 203: in dbSNP:rs12336220</ul>									<li>rs1832322</li><li>rs1832323</li><li>rs12336220</li>	2
B1APH4		<ul><li>P->R at 61: in dbSNP:rs11816311<li>R->S at 120: in dbSNP:rs11598660</ul>									<li>rs11598660</li><li>rs11816311</li>	2
B2RC85	222967	<ul><li>E->K at 836: in dbSNP:rs17855578</ul>									rs17855578	2
B2RTY4	4649	<ul><li>R->K at 37: in dbSNP:rs17855105<li>R->Q at 85<li>T->I at 161: in dbSNP:rs2929516<li>N->D at 168<li>L->P at 211<li>R->Q at 946<li>E->G at 1193: in dbSNP:rs2415129<li>S->P at 1362: in dbSNP rsrs55738821<li>P->R at 1476: in dbSNP:rs16956375<li>H->Y at 1795: in dbSNP:rs16956367<li>H->Q at 1805: in dbSNP:rs2306575<li>R->C at 1834<li>I->V at 2390: in dbSNP:rs2291280</ul>									<li>rs16956367</li><li>rs2929516</li><li>rs2291280</li><li>rs2306575</li><li>rs2415129</li><li>rs55738821</li><li>rs17855105</li><li>rs16956375</li>	2
B2RU33	388468	<ul><li>T->A at 3: in dbSNP:rs28535987<li>A->T at 10: in dbSNP:rs45488295<li>A->T at 13: in dbSNP:rs45561536<li>F->C at 28: in dbSNP:rs45626231<li>H->P at 30: in dbSNP:rs9807633<li>K->R at 36: in dbSNP:rs45570841<li>H->R at 66: in dbSNP:rs9807555<li>C->Y at 72: in dbSNP:rs45554841<li>H->D at 86: in dbSNP:rs45469098<li>M->I at 166: in dbSNP:rs12454500<li>C->R at 221: in dbSNP:rs7505568</ul>									<li>rs45554841</li><li>rs45488295</li><li>rs45570841</li><li>rs45469098</li><li>rs45626231</li><li>rs28535987</li><li>rs7505568</li><li>rs45561536</li><li>rs9807633</li><li>rs12454500</li><li>rs9807555</li>	2
B2RXF5	100128927	<ul><li>A->T at 134: in dbSNP:rs34284721<li>K->E at 232: in dbSNP:rs4983387</ul>									<li>rs4983387</li><li>rs34284721</li>	2
O00115	1777	<ul><li>R->I at 39: in dbSNP:rs36075196<li>H->R at 204: in dbSNP:rs16978744<li>R->L at 314: in dbSNP:rs1061192</ul>									<li>rs36075196</li><li>rs1061192</li><li>rs16978744</li>	2
O00116	8540	<ul><li>T->I at 309: in RCDP3, MIM: 600121<li>R->H at 419: in RCDP3, MIM: 600121<li>L->P at 469: in RCDP3, MIM: 600121</ul>								Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]		2
O00124	7993	<ul><li>V->M at 18: in dbSNP:rs3174043<li>I->T at 51: in dbSNP:rs2911690</ul>									<li>rs2911690</li><li>rs3174043</li>	2
O00141	6446	<ul><li>V->I at 219: in dbSNP rsrs34133418<li>A->V at 342: in dbSNP rsrs55932330</ul>									<li>rs34133418</li><li>rs55932330</li>	2
O00142		<ul><li>I->M at 53: in MDS, MIM: 609560<li>T->M at 64: in MDS, MIM: 609560<li>T->M at 108: in MDS; reduction of activity, MIM: 609560<li>H->N at 121: in MDS, MIM: 609560<li>R->W at 183: in MDS, MIM: 609560<li>R->K at 192: in MDS; reduction of activity, MIM: 609560<li>I->N at 212: in MDS, MIM: 609560</ul>								Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]		2
O00148	10212	<ul><li>V->I at 142: in dbSNP:rs36127505</ul>									rs36127505	2
O00151	9124	<ul><li>N->S at 175: in dbSNP:rs2296961</ul>									rs2296961	2
O00167	2139	<ul><li>P->S at 83: in dbSNP:rs2275596<li>T->A at 238: in dbSNP:rs866936</ul>									<li>rs866936</li><li>rs2275596</li>	2
O00170		<ul><li>R->H at 16<li>K->Q at 228: in dbSNP:rs641081<li>K->E at 241: in FIPA patients; uncertain pathogenicity<li>Missing  at 248: in a ACTH-secreting pituitary adenoma patient; uncertain pathogenicity<li>R->W at 271: in FIPA patients; uncertain pathogenicity<li>R->Q at 304: in a ACTH-secreting pituitary adenoma patient</ul>							<li>P68000</li><li>P68001</li><li>Q9YGK2</li><li>Q9YGK4</li><li>P10000</li><li>P22923</li><li>P01189</li><li>P01197</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>P01201</li><li>Q04618</li><li>Q91082</li><li>Q04617</li><li>P06298</li><li>P06297</li><li>P11280</li><li>Q9YGK5</li><li>P06299</li><li>P11885</li><li>P21252</li>		rs641081	2
O00175	6369	<ul><li>I->L at 29: in dbSNP:rs2302006<li>S->F at 31: in dbSNP:rs11465293<li>A->T at 102: in dbSNP:rs11465312<li>Q->E at 110: in dbSNP:rs11465313</ul>									<li>rs2302006</li><li>rs11465313</li><li>rs11465312</li><li>rs11465293</li>	2
O00178	9567	<ul><li>G->R at 91: in dbSNP:rs11547402</ul>									rs11547402	2
O00182	3965	<ul><li>G->S at 5: in dbSNP:rs3751093</ul>									rs3751093	2
O00186	6814	<ul><li>R->Q at 295: in dbSNP:rs2275344<li>E->G at 433: in dbSNP:rs1044136<li>C->G at 546: in dbSNP:rs1044137</ul>									<li>rs2275344</li><li>rs1044136</li><li>rs1044137</li>	2
O00187	10747	<ul><li>R->Q at 99: in Sub-Saharans but not in North Africans or Spaniards<li>R->C at 118: in North Africans but not in Sub-Saharans or Spaniards<li>D->G at 120: in North Africans but not in Sub-Saharans or Spaniards; strongly decreases affinity for MBL2 and FCN2<li>P->L at 126: in Spaniards and North Africans but not in Sub-Saharans: in dbSNP rsrs56392418<li>H->R at 155: in dbSNP:rs2273343<li>Y->D at 371: in dbSNP:rs12711521<li>V->A at 377: in dbSNP:rs2273346<li>R->H at 439: in dbSNP:rs12085877</ul>							<li>Q15485</li><li>Q66S41</li><li>Q66S50</li><li>Q66S60</li><li>Q66S61</li><li>Q66S62</li><li>Q66S63</li><li>Q66S54</li><li>Q66S65</li><li>Q66S37</li><li>Q66S64</li><li>P11226</li><li>Q66S45</li><li>Q66S58</li>		<li>rs2273343</li><li>rs12711521</li><li>rs12085877</li><li>rs2273346</li><li>rs56392418</li>	2
O00192	421	<ul><li>V->A at 175: in dbSNP:rs2240717<li>P->L at 220: in dbSNP:rs2073748<li>R->Q at 539: in dbSNP:rs16982871<li>R->Q at 906: in dbSNP:rs165815<li>R->Q at 909: in dbSNP:rs34638476<li>R->W at 909: in dbSNP:rs34687532<li>R->W at 912: in dbSNP:rs34445280</ul>									<li>rs34638476</li><li>rs34445280</li><li>rs165815</li><li>rs34687532</li><li>rs2240717</li><li>rs2073748</li><li>rs16982871</li>	2
O00194	5874	<ul><li>A->T at 92: in dbSNP:rs9966265</ul>									rs9966265	2
O00203	8546	<ul><li>Missing  at 390-410: in HPS2<li>L->R at 580: in HPS2, MIM: 608233</ul>								Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]		2
O00204	6820	<ul><li>L->S at 51: in dbSNP:rs16982149<li>V->I at 240: in dbSNP:rs2302947<li>M->I at 301<li>P->L at 345: in dbSNP:rs17842463</ul>									<li>rs17842463</li><li>rs16982149</li><li>rs2302947</li>	2
O00206	7099	<ul><li>T->A at 175: in dbSNP:rs16906079<li>Q->R at 188: in dbSNP:rs5030713<li>C->S at 246: in dbSNP:rs5030714<li>D->G at 299: in allele TLR4*B; reduced LPS-response; associated with an increased risk for ARMD10 in Caucasian patients carriers; dbSNP:rs4986790<li>C->W at 306: in dbSNP:rs2770145<li>V->G at 310: in dbSNP:rs2770144<li>N->S at 329: in dbSNP:rs5030715<li>F->Y at 342: in dbSNP:rs5031050<li>L->F at 385: in dbSNP:rs11536884<li>T->I at 399: in allele TLR4*B; reduced LPS-response; dbSNP:rs4986791<li>S->N at 400: in dbSNP:rs4987233<li>F->L at 443: in dbSNP:rs5030716<li>E->K at 474: in dbSNP:rs5030718<li>Q->H at 510: in dbSNP:rs5030719<li>K->R at 694: in dbSNP:rs5030722<li>R->H at 763: in dbSNP:rs5030723<li>Q->H at 834</ul>							<li>Q9GL65</li><li>Q8SPE8</li><li>P58727</li><li>Q2V898</li><li>Q9WV82</li><li>Q9TTN0</li><li>O00206</li><li>Q9TSP2</li><li>Q9MYW3</li><li>Q68Y56</li><li>Q8SPE9</li>		<li>rs5030723</li><li>rs5030722</li><li>rs2770145</li><li>rs2770144</li><li>rs11536884</li><li>rs4987233</li><li>rs5031050</li><li>rs4986791</li><li>rs16906079</li><li>rs4986790</li><li>rs5030718</li><li>rs5030719</li><li>rs5030713</li><li>rs5030714</li><li>rs5030715</li><li>rs5030716</li>	2
O00213	322	<ul><li>M->V at 327: in dbSNP:rs1800423<li>N->S at 396: in dbSNP:rs1800425</ul>									<li>rs1800423</li><li>rs1800425</li>	2
O00214	3964	<ul><li>F->Y at 18: in dbSNP:rs2737713<li>R->C at 35: in dbSNP:rs1041935<li>M->V at 55: in dbSNP:rs1041937</ul>									<li>rs1041937</li><li>rs1041935</li><li>rs2737713</li>	2
O00217	4728	<ul><li>P->L at 79: in LS: in dbSNP rsrs28939679, MIM: 256000<li>R->H at 102: in LS, MIM: 256000</ul>								Leigh syndrome (LS) [MIM:256000]	rs28939679	2
O00219	3038	<ul><li>R->H at 173: in dbSNP:rs2232229</ul>									rs2232229	2
O00220	8797	<ul><li>G->V at 11: in dbSNP:rs34737614<li>T->I at 33: in dbSNP:rs20577<li>P->R at 105: in dbSNP:rs11986840<li>H->R at 141: in dbSNP:rs6557634<li>R->T at 209: in dbSNP:rs20575<li>E->A at 228: in dbSNP:rs20576<li>N->H at 297: in dbSNP:rs17088980<li>K->R at 441: in dbSNP:rs2230229</ul>									<li>rs17088980</li><li>rs2230229</li><li>rs20575</li><li>rs20576</li><li>rs20577</li><li>rs34737614</li><li>rs11986840</li><li>rs6557634</li>	2
O00221	4794	<ul><li>H->Q at 95: in dbSNP:rs28362857<li>V->A at 194: in dbSNP:rs2233434</ul>									<li>rs2233434</li><li>rs28362857</li>	2
O00222	2918	<ul><li>S->C at 10: in dbSNP:rs769194<li>F->C at 21: in dbSNP:rs769202<li>I->T at 265: in dbSNP:rs17150343<li>R->Q at 343: in dbSNP:rs13309334<li>F->Y at 362<li>G->D at 368<li>R->Q at 392: in dbSNP:rs2234947<li>L->F at 430<li>V->G at 548: in dbSNP:rs2234948<li>I->N at 768: in dbSNP:rs1051433<li>S->I at 902: in dbSNP:rs10225567</ul>									<li>rs2234947</li><li>rs2234948</li><li>rs10225567</li><li>rs769194</li><li>rs17150343</li><li>rs13309334</li><li>rs1051433</li><li>rs769202</li>	2
O00232	5718	<ul><li>V->A at 358: in dbSNP:rs2230680</ul>									rs2230680	2
O00233	5715	<ul><li>A->V at 17: in dbSNP:rs2230681</ul>									rs2230681	2
O00238	658	<ul><li>R->H at 31: in a gastric adenocarcinoma sample; somatic mutation<li>R->W at 149<li>I->K at 200: in BDA2: in dbSNP rsrs28939703, MIM: 112600<li>R->H at 224: in dbSNP rsrs35973133, MIM: 112600<li>D->N at 297: in a metastatic melanoma sample; somatic mutation, MIM: 112600<li>R->Q at 371: in dbSNP rsrs34970181, MIM: 112600<li>R->Q at 486: in brachydactyly type C and BDA2; with also additional features of symphalangism-1, MIM: 112600<li>R->W at 486: in BDA2: in dbSNP rsrs28939704, MIM: 112600</ul>								Brachydactyly type A2 (BDA2) [MIM:112600]	<li>rs35973133</li><li>rs28939704</li><li>rs28939703</li><li>rs34970181</li>	2
O00241	10326	<ul><li>R->G at 23: in dbSNP:rs1535882<li>R->H at 53: in dbSNP:rs2746603<li>M->I at 229: in dbSNP:rs2253427<li>P->A at 363: in dbSNP:rs2243603</ul>									<li>rs1535882</li><li>rs2243603</li><li>rs2253427</li><li>rs2746603</li>	2
O00253	181	<ul><li>A->T at 67: in obesity; late onset; dbSNP:rs5030980</ul>									rs5030980	2
O00254	2151	<ul><li>L->S at 15: in dbSNP:rs2069649<li>M->V at 177: in dbSNP:rs2069700<li>N->D at 250: in dbSNP:rs2069683</ul>									<li>rs2069700</li><li>rs2069649</li><li>rs2069683</li>	2
O00255	4221	<ul><li>P->L at 12: in MEN1, MIM: 131100<li>L->R at 22: in MEN1, MIM: 131100<li>E->K at 26: in parathyroid adenoma and MEN1; dbSNP:rs28931612, MIM: 131100<li>L->W at 39: in MEN1, MIM: 131100<li>G->D at 42: in MEN1, MIM: 131100<li>E->G at 45: in MEN1, MIM: 131100<li>E->K at 45: in MEN1, MIM: 131100<li>R->L at 98: in MEN1, MIM: 131100<li>G->E at 110: in MEN1, MIM: 131100<li>Missing  at 119: in MEN1, MIM: 131100<li>K->I at 135: in MEN1, MIM: 131100<li>H->D at 139: in MEN1, MIM: 131100<li>H->P at 139: in MEN1, MIM: 131100<li>H->R at 139: in MEN1, MIM: 131100<li>H->Y at 139: in MEN1; familial and sporadic cases, MIM: 131100<li>F->V at 144: in MEN1, MIM: 131100<li>D->V at 158: in MEN1 and FIHP, MIM: 131100<li>S->I at 159: in MEN1, MIM: 131100<li>S->F at 160: in MEN1, MIM: 131100<li>G->D at 161: in MEN1 and parathyroid tumor, MIM: 131100<li>A->P at 165: in MEN1, MIM: 131100<li>A->T at 165: in MEN1, MIM: 131100<li>V->F at 167: in MEN1, MIM: 131100<li>A->D at 169: in MEN1, MIM: 131100<li>C->R at 170: in MEN1, MIM: 131100<li>Missing  at 171-173: in MEN1, MIM: 131100<li>L->P at 173: in MEN1, MIM: 131100<li>R->Q at 176: in dbSNP:rs607969, MIM: 131100<li>D->Y at 177: in MEN1, MIM: 131100<li>A->P at 181: in MEN1, MIM: 131100<li>E->D at 184: in MEN1, MIM: 131100<li>E->K at 184: in MEN1, MIM: 131100<li>E->Q at 184: in MEN1, MIM: 131100<li>H->R at 186: in MEN1, MIM: 131100<li>W->R at 188: in MEN1 and parathyroid tumor, MIM: 131100<li>W->S at 188: in MEN1, MIM: 131100<li>V->E at 189: in FIHP, MIM: 145000<li>V->M at 220: in MEN1, MIM: 131100<li>L->P at 228: in MEN1, MIM: 131100<li>G->R at 230: in MEN1, MIM: 131100<li>R->L at 234: in MEN1, MIM: 131100<li>V->F at 245: in MEN1, MIM: 131100<li>C->F at 246: in MEN1, MIM: 131100<li>C->R at 246: in MEN1, MIM: 131100<li>C->Y at 246: in MEN1, MIM: 131100<li>A->V at 247: in MEN1, MIM: 131100<li>S->P at 258: in MEN1, MIM: 131100<li>S->W at 258: in parathyroid tumor, MIM: 131100<li>E->K at 260: in FIHP, MIM: 145000<li>L->R at 264: in MEN1, MIM: 131100<li>Q->P at 265: in FIHP, MIM: 145000<li>Q->QLQ at 266: in MEN1, MIM: 145000<li>L->P at 269: in MEN1, MIM: 131100<li>L->P at 272: in FIHP, MIM: 145000<li>E->A at 279: in parathyroid tumor, MIM: 145000<li>P->H at 282: in FIHP, MIM: 145000<li>G->R at 286: in MEN1, MIM: 131100<li>A->E at 289: in MEN1, MIM: 131100<li>A->P at 289: in parathyroid tumor, MIM: 131100<li>L->P at 291: in MEN1, MIM: 131100<li>G->D at 310: in FIHP, MIM: 145000<li>A->P at 314: in MEN1, MIM: 131100<li>T->P at 316: in MEN1, MIM: 131100<li>R->P at 319: in MEN1, MIM: 131100<li>H->R at 322: in MEN1, MIM: 131100<li>H->Y at 322: in MEN1, MIM: 131100<li>P->L at 325: in MEN1, MIM: 131100<li>P->R at 325: in MEN1, MIM: 131100<li>A->P at 330: in MEN1, MIM: 131100<li>A->D at 342: in MEN1; dbSNP:rs2071312, MIM: 131100<li>A->P at 342: in MEN1, MIM: 131100<li>W->R at 346: in MEN1, MIM: 131100<li>A->P at 347: in MEN1, MIM: 131100<li>T->R at 349: in MEN1, MIM: 131100<li>I->N at 353: in MEN1, MIM: 131100<li>Y->D at 358: in MEN1, MIM: 131100<li>R->W at 360: in MEN1, MIM: 131100<li>D->H at 362: in MEN1, MIM: 131100<li>E->K at 364: in MEN1, MIM: 131100<li>Missing  at 368: in MEN1, MIM: 131100<li>A->D at 373: in MEN1, MIM: 131100<li>I->M at 377: in MEN1, MIM: 131100<li>P->S at 378: in MEN1, MIM: 131100<li>A->V at 390: in MEN1, MIM: 131100<li>A->P at 416: in MEN1 and FIHP, MIM: 131100<li>L->P at 419: in MEN1, MIM: 131100<li>R->P at 420: in MEN1, MIM: 131100<li>Missing  at 423-426: in MEN1, MIM: 131100<li>D->H at 423: in MEN1, MIM: 131100<li>D->N at 423: in MEN1, MIM: 131100<li>Missing  at 423: in MEN1, MIM: 131100<li>C->Y at 426: in MEN1, MIM: 131100<li>W->S at 428: in MEN1, MIM: 131100<li>S->R at 432: in MEN1, MIM: 131100<li>W->C at 441: in MEN1, MIM: 131100<li>W->R at 441: in MEN1, MIM: 131100<li>L->P at 449: in MEN1, MIM: 131100<li>F->S at 452: in MEN1; sporadic; with Zollinger-Ellison syndrome, MIM: 131100<li>R->C at 532: in MEN1, MIM: 131100<li>P->S at 545: in MEN1, MIM: 131100<li>A->T at 546: in dbSNP:rs2959656, MIM: 131100<li>P->S at 549: in MEN1, MIM: 131100<li>T->S at 557: in adrenal adenoma; somatic, MIM: 131100<li>S->N at 560: in MEN1, MIM: 131100<li>S->R at 560: in MEN1, MIM: 131100</ul>							O00255	<li>Familial isolated hyperparathyroidism (FIHP) [MIM:145000]</li><li>Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]</li>	<li>rs2959656</li><li>rs607969</li><li>rs28931612</li>	2
O00258	7485	<ul><li>V->I at 110: in dbSNP:rs35946782</ul>									rs35946782	2
O00268	6874	<ul><li>P->L at 651: in dbSNP:rs6089604</ul>									rs6089604	2
O00270	2853	<ul><li>H->R at 91: in dbSNP:rs6902566</ul>									rs6902566	2
O00291	3092	<ul><li>M->K at 263: in dbSNP:rs17149023</ul>									rs17149023	2
O00292	7044	<ul><li>S->L at 92: in dbSNP:rs366439<li>P->L at 286: in dbSNP:rs2295418<li>S->N at 342: in L-R axis malformations</ul>									<li>rs2295418</li><li>rs366439</li>	2
O00294	7287	<ul><li>T->R at 67: in dbSNP:rs7764472<li>Missing  at 120-127: in RP14<li>A->V at 245: in RP14, MIM: 600132<li>I->T at 259: in RP14; dbSNP:rs2064317, MIM: 600132<li>K->N at 261: in dbSNP:rs2064318, MIM: 600132<li>K->T at 261: in RP14, MIM: 600132<li>R->H at 378: in RP14, MIM: 600132<li>F->S at 382: in RP14, MIM: 600132<li>R->P at 420: in RP14, MIM: 600132<li>T->M at 454: in RP14, MIM: 600132<li>I->K at 459: in RP14, MIM: 600132<li>K->R at 489: in RP14, MIM: 600132<li>F->L at 491: in RP14, MIM: 600132<li>A->T at 496: in RP14, MIM: 600132</ul>							P26783	Retinitis pigmentosa type 14 (RP14) [MIM:600132]	<li>rs7764472</li><li>rs2064318</li><li>rs2064317</li>	2
O00295	7288	<ul><li>A->T at 18: in dbSNP:rs7260579<li>E->K at 245: in dbSNP:rs2270945<li>D->N at 251: in dbSNP:rs8112811</ul>									<li>rs7260579</li><li>rs8112811</li><li>rs2270945</li>	2
O00300	4982	<ul><li>K->N at 3: in dbSNP:rs2073618<li>V->M at 104: in dbSNP:rs11573906<li>Missing  at 182: in JPD</ul>									<li>rs11573906</li><li>rs2073618</li>	2
O00303	8665	<ul><li>P->L at 39: in dbSNP:rs1043738<li>W->L at 172: in dbSNP:rs1044058</ul>									<li>rs1043738</li><li>rs1044058</li>	2
O00305	785	<ul><li>C->F at 104: in IGE; dbSNP:rs1805031, MIM: 600669</ul>								Idiopathic generalized epilepsy (IGE) [MIM:600669]	rs1805031	2
O00311	8317	<ul><li>Q->P at 23: in dbSNP:rs13447459<li>I->V at 99: in dbSNP:rs13447492<li>G->W at 112: in dbSNP:rs13447493<li>F->L at 162: in dbSNP:rs13447503<li>I->M at 208: in dbSNP rsrs34979509<li>E->D at 209: in dbSNP rsrs56327502<li>K->R at 441: in dbSNP:rs13447539<li>T->I at 472: in dbSNP rsrs56381770<li>S->A at 498: in dbSNP rsrs35055915</ul>									<li>rs13447503</li><li>rs34979509</li><li>rs13447459</li><li>rs56327502</li><li>rs13447539</li><li>rs35055915</li><li>rs56381770</li><li>rs13447492</li><li>rs13447493</li>	2
O00322	11045	<ul><li>S->A at 33: in dbSNP:rs2267586<li>M->T at 257: in dbSNP:rs2285421</ul>									<li>rs2267586</li><li>rs2285421</li>	2
O00330	8050	<ul><li>R->C at 23: in dbSNP:rs1049306<li>T->A at 101: in dbSNP:rs11539202<li>D->V at 370: in dbSNP:rs17850649</ul>									<li>rs11539202</li><li>rs1049306</li><li>rs17850649</li>	2
O00337		<ul><li>E->G at 34: in A<li>L->LV at 140: in A<li>V->I at 189: in A<li>N->S at 409: in B<li>D->N at 521: in B and C</ul>										2
O00338	6819	<ul><li>Y->H at 128: in dbSNP:rs17036091<li>S->A at 255: in dbSNP:rs17036104</ul>									<li>rs17036104</li><li>rs17036091</li>	2
O00339	4147	<ul><li>E->K at 356: in dbSNP:rs1869609</ul>									rs1869609	2
O00341	6512	<ul><li>R->C at 41: in a colorectal cancer sample; somatic mutation<li>Q->R at 537: in dbSNP:rs1288401</ul>									rs1288401	2
O00358	2304	<ul><li>S->N at 57: in Bamforth-Lazarus syndrome; without choanal atresia; dbSNP:rs28937575, MIM: 241850<li>A->V at 65: in Bamforth-Lazarus syndrome, MIM: 241850<li>R->C at 102: in congenital hypothyroidism; with absence of thyroid agenesis; complete loss of DNA binding and transcriptionally inactive, MIM: 241850<li>A->AAA at 179, MIM: 241850</ul>			DNA binding	GO:0003677				Bamforth-Lazarus syndrome [MIM:241850]	rs28937575	2
O00391	5768	<ul><li>N->S at 114: in dbSNP:rs3894211<li>G->A at 200: in dbSNP:rs17855475<li>R->M at 256: in dbSNP:rs4360492<li>A->S at 294: in dbSNP:rs2278943<li>H->R at 444: in dbSNP:rs12371<li>N->H at 591: in dbSNP:rs3738115<li>R->P at 605: in dbSNP:rs16855466</ul>									<li>rs12371</li><li>rs17855475</li><li>rs3738115</li><li>rs16855466</li><li>rs4360492</li><li>rs2278943</li><li>rs3894211</li>	2
O00398	27334	<ul><li>N->H at 3: in dbSNP:rs6618868</ul>									rs6618868	2
O00400	9197	<ul><li>S->R at 113: in SPG42, MIM: 612539<li>D->G at 171: in dbSNP:rs3804769, MIM: 612539<li>V->A at 400: in a colorectal cancer sample; somatic mutation, MIM: 612539</ul>								Spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]	rs3804769	2
O00408	5138	<ul><li>T->I at 224: in dbSNP:rs341047</ul>									rs341047	2
O00409	1112	<ul><li>Y->H at 337: in dbSNP:rs1804717</ul>									rs1804717	2
O00410		<ul><li>L->I at 286: in dbSNP:rs1053814<li>E->K at 525: in dbSNP:rs632729<li>E->K at 549: in dbSNP:rs484770<li>Y->C at 905: in dbSNP:rs1804740<li>T->I at 969: in dbSNP:rs1804741</ul>									<li>rs1053814</li><li>rs1804741</li><li>rs1804740</li><li>rs632729</li><li>rs484770</li>	2
O00411	5442	<ul><li>E->A at 555: in dbSNP:rs2238549</ul>									rs2238549	2
O00418	29904	<ul><li>H->R at 23: in dbSNP:rs9935059<li>P->A at 75: in dbSNP:rs17841292<li>T->M at 291: in a colorectal adenocarcinoma sample; somatic mutation<li>R->W at 433: in dbSNP rsrs56137739<li>D->H at 609</ul>									<li>rs9935059</li><li>rs17841292</li><li>rs56137739</li>	2
O00421	727811	<ul><li>Y->C at 4: in dbSNP:rs11574443<li>F->Y at 167: in dbSNP:rs3204849<li>V->M at 168: in dbSNP:rs6441977<li>I->V at 243: in dbSNP:rs3204850</ul>									<li>rs6441977</li><li>rs3204850</li><li>rs3204849</li><li>rs11574443</li>	2
O00423	2009	<ul><li>A->V at 377: in dbSNP:rs34198557<li>H->N at 552: in dbSNP:rs17853154<li>P->S at 556: in dbSNP:rs2250718</ul>									<li>rs2250718</li><li>rs17853154</li><li>rs34198557</li>	2
O00429	10059	<ul><li>S->T at 71: in dbSNP:rs1064610<li>E->D at 426: in dbSNP:rs2389105</ul>									<li>rs2389105</li><li>rs1064610</li>	2
O00443	5286	<ul><li>T->A at 1415: in dbSNP:rs11604561</ul>									rs11604561	2
O00444	10733	<ul><li>Y->C at 86: in dbSNP:rs34156294<li>R->H at 146: in dbSNP:rs35232579<li>A->T at 226: in dbSNP rsrs35448573<li>S->T at 232: in dbSNP:rs3811740<li>P->L at 317: in dbSNP rsrs35049837<li>N->D at 449: in dbSNP rsrs34906574<li>W->S at 519: in dbSNP rsrs56043017<li>E->D at 830: in dbSNP:rs17012739</ul>									<li>rs3811740</li><li>rs35448573</li><li>rs34906574</li><li>rs56043017</li><li>rs35049837</li><li>rs35232579</li><li>rs17012739</li><li>rs34156294</li>	2
O00445	6861	<ul><li>E->D at 4: in dbSNP:rs2301279<li>R->Q at 111: in dbSNP:rs11542503</ul>									<li>rs2301279</li><li>rs11542503</li>	2
O00459	5296	<ul><li>R->S at 234: in dbSNP:rs2241088<li>P->S at 313: in dbSNP:rs1011320</ul>									<li>rs1011320</li><li>rs2241088</li>	2
O00461	27333	<ul><li>A->V at 312: in a breast cancer sample; somatic mutation</ul>										2
O00462	4126	<ul><li>V->I at 253: in dbSNP:rs227368<li>T->M at 701: in dbSNP:rs2866413</ul>									<li>rs2866413</li><li>rs227368</li>	2
O00463	7188	<ul><li>V->G at 120: in dbSNP:rs3946808<li>N->H at 186: in dbSNP:rs2271458<li>L->V at 358: in dbSNP:rs2230780</ul>									<li>rs3946808</li><li>rs2271458</li><li>rs2230780</li>	2
O00468	375790	<ul><li>V->I at 1666: in dbSNP:rs17160775</ul>									rs17160775	2
O00469	5352	<ul><li>R->H at 598: in BRKS2, MIM: 609220<li>G->V at 601: in BRKS2, MIM: 609220<li>T->I at 608: in BRKS2, MIM: 609220</ul>								Bruck syndrome 2 (BRKS2) [MIM:609220]		2
O00471	10640	<ul><li>E->D at 10: in dbSNP:rs35132458</ul>									rs35132458	2
O00476	10786	<ul><li>A->T at 100: in dbSNP:rs1165165<li>G->R at 201: in dbSNP rsrs56027330<li>P->L at 300: in dbSNP:rs11966370</ul>									<li>rs11966370</li><li>rs1165165</li><li>rs56027330</li>	2
O00481	11119	<ul><li>S->N at 224: in dbSNP:rs1057933<li>P->T at 456: in dbSNP:rs4712990</ul>									<li>rs4712990</li><li>rs1057933</li>	2
O00499	274	<ul><li>K->N at 35: in ARCNM; abolishes membrane tubulation, MIM: 255200<li>D->N at 151: in ARCNM; abolishes membrane tubulation, MIM: 255200</ul>					membrane	GO:0016020		Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]		2
O00505	3839	<ul><li>P->S at 291: in dbSNP:rs1043015</ul>									rs1043015	2
O00506	10494	<ul><li>Q->H at 64: in dbSNP:rs34341643</ul>									rs34341643	2
O00507	8287	<ul><li>E->D at 65: in dbSNP:rs7067496<li>R->C at 211: in dbSNP:rs2032596<li>P->S at 1035: in dbSNP:rs20319<li>A->T at 1060: in dbSNP:rs20320<li>A->S at 1705: in dbSNP:rs2032606</ul>									<li>rs20320</li><li>rs2032606</li><li>rs20319</li><li>rs7067496</li><li>rs2032596</li>	2
O00512	607	<ul><li>P->S at 671: in dbSNP:rs3820129<li>R->K at 782: in dbSNP:rs34002844</ul>									<li>rs34002844</li><li>rs3820129</li>	2
O00515	3898	<ul><li>A->S at 56: in dbSNP:rs3738281<li>A->P at 155: in dbSNP:rs1128316<li>L->P at 243: in dbSNP:rs12088790<li>P->Q at 279: in dbSNP:rs11805972<li>K->E at 323: in dbSNP:rs4128458<li>T->S at 503: in dbSNP:rs2275866</ul>									<li>rs2275866</li><li>rs1128316</li><li>rs12088790</li><li>rs4128458</li><li>rs11805972</li><li>rs3738281</li>	2
O00519	2166	<ul><li>P->T at 129: strongly associated with drug use; dbSNP:rs324420<li>A->D at 345: in a breast cancer sample; somatic mutation</ul>									rs324420	2
O00522	889	<ul><li>F->S at 97: in CCM1, MIM: 116860<li>K->E at 569: in CCM1, MIM: 116860</ul>							<li>Q6TNJ1</li><li>O00522</li><li>P93087</li><li>P02597</li>	Cerebral cavernous malformations type 1 (CCM1) [MIM:116860]		2
O00526	7379	<ul><li>A->S at 47: in dbSNP:rs3886020</ul>									rs3886020	2
O00533	10752	<ul><li>L->F at 17: in dbSNP:rs2272522<li>T->A at 287: in dbSNP:rs13060847<li>L->I at 411: in a colorectal cancer sample; somatic mutation<li>V->I at 1034: in dbSNP:rs6442827</ul>									<li>rs2272522</li><li>rs6442827</li><li>rs13060847</li>	2
O00534	4013	<ul><li>S->I at 499: in dbSNP:rs2276054<li>R->K at 506: in dbSNP:rs2276053<li>R->C at 757<li>H->R at 759</ul>									<li>rs2276054</li><li>rs2276053</li>	2
O00541	23481	<ul><li>T->S at 264: in dbSNP:rs42942<li>D->H at 370: in dbSNP:rs11541876<li>A->T at 411: in dbSNP:rs34123894</ul>									<li>rs42942</li><li>rs34123894</li><li>rs11541876</li>	2
O00548	28514	<ul><li>V->M at 444: in dbSNP:rs16901311</ul>									rs16901311	2
O00555	773	<ul><li>A->V at 21: in dbSNP:rs15999<li>R->Q at 192: in FHM, MIM: 141500<li>R->K at 195: in FHM, MIM: 141500<li>S->L at 218: in FHM, MIM: 141500<li>H->Y at 253: in EA2, MIM: 108500<li>C->R at 256: in EA2, MIM: 108500<li>C->Y at 287: in EA2, MIM: 108500<li>G->R at 293: in EA2 and SCA6, MIM: 183086<li>R->Q at 583: in FHM, MIM: 141500<li>T->M at 666: in FHM and EA2, MIM: 141500<li>V->A at 714: in FHM, MIM: 141500<li>D->E at 715: in FHM, MIM: 141500<li>P->S at 914: in dbSNP:rs16020, MIM: 141500<li>E->D at 918: in dbSNP:rs16022, MIM: 141500<li>E->V at 993, MIM: 141500<li>E->K at 1015: in dbSNP:rs16024, MIM: 141500<li>G->S at 1105: in dbSNP:rs16027, MIM: 141500<li>K->E at 1335: in FHM, MIM: 141500<li>R->Q at 1346: in FHM; with progressive cerebellar ataxia, MIM: 141500<li>Y->C at 1384: in FHM, MIM: 141500<li>F->C at 1404: in EA2; loss of function, MIM: 108500<li>V->L at 1456: in FHM, MIM: 141500<li>G->R at 1482: in EA2, MIM: 108500<li>F->S at 1490: in EA2, MIM: 108500<li>V->I at 1493: in EA2, MIM: 108500<li>R->H at 1661: in EA2, MIM: 108500<li>R->W at 1667: in FHM, MIM: 141500<li>W->R at 1683: in FHM, MIM: 141500<li>H->L at 1736: in EA2, MIM: 108500<li>E->K at 1756: in EA2, MIM: 108500<li>I->L at 1810: in FHM, MIM: 141500<li>R->C at 2135: in EA2, MIM: 108500<li>P->S at 2394: in dbSNP:rs16056, MIM: 108500</ul>								<li>Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]</li><li>Episodic ataxia type 2 (EA2) [MIM:108500]</li><li>Familial hemiplegic migraine (FHM) [MIM:141500]</li>	<li>rs16027</li><li>rs16056</li><li>rs16024</li><li>rs16022</li><li>rs16020</li><li>rs15999</li>	2
O00560	6386	<ul><li>P->T at 26: in dbSNP:rs11550282<li>N->S at 69: in dbSNP:rs1127509</ul>									<li>rs11550282</li><li>rs1127509</li>	2
O00566	10199	<ul><li>E->A at 69: in dbSNP:rs10199088<li>R->H at 115: in dbSNP:rs13010513<li>D->N at 140: in dbSNP:rs10175940<li>E->D at 229: in dbSNP:rs1813160<li>L->M at 425: in dbSNP:rs3732240<li>E->K at 634: in dbSNP:rs6574<li>A->T at 639: in dbSNP:rs4852764</ul>									<li>rs10199088</li><li>rs10175940</li><li>rs6574</li><li>rs4852764</li><li>rs1813160</li><li>rs3732240</li><li>rs13010513</li>	2
O00567	10528	<ul><li>I->V at 121: in dbSNP:rs2273137<li>M->T at 475: in dbSNP:rs6753<li>V->A at 576: in dbSNP:rs5856</ul>									<li>rs6753</li><li>rs2273137</li><li>rs5856</li>	2
O00571	1654	<ul><li>R->T at 294: in a breast cancer sample; somatic mutation</ul>										2
O00574	10663	<ul><li>E->K at 3: in dbSNP:rs2234355<li>D->A at 25: in STRL33.3</ul>							<li>Q9N0Z0</li><li>Q9TV16</li><li>O00574</li><li>Q9XT45</li><li>Q9BDS6</li>		rs2234355	2
O00584	8635	<ul><li>R->W at 236: in dbSNP:rs11159</ul>									rs11159	2
O00587	4242	<ul><li>R->C at 302: in dbSNP:rs8192548</ul>									rs8192548	2
O00590	1238	<ul><li>V->A at 41: in dbSNP:rs2228467<li>A->V at 248: in dbSNP:rs2228469<li>L->V at 311: in dbSNP:rs6779520<li>Y->S at 373: in dbSNP:rs2228468</ul>									<li>rs6779520</li><li>rs2228468</li><li>rs2228467</li><li>rs2228469</li>	2
O00591	2568	<ul><li>F->L at 391: in dbSNP:rs1063310<li>H->R at 416: in a breast cancer sample; somatic mutation</ul>									rs1063310	2
O00592		<ul><li>T->R at 60<li>G->S at 112: in dbSNP:rs3735035<li>S->L at 194: in dbSNP:rs12670788<li>V->I at 358: in dbSNP:rs3212298</ul>									<li>rs3212298</li><li>rs12670788</li><li>rs3735035</li>	2
O00602	2219	<ul><li>Y->H at 126: in dbSNP:rs17549179<li>Y->C at 175: in a colorectal cancer sample; somatic mutation</ul>									rs17549179	2
O00622	3491	<ul><li>R->W at 334: in dbSNP:rs9658587</ul>									rs9658587	2
O00623	5193	<ul><li>L->I at 245: in dbSNP:rs12941376<li>S->F at 320: in NALD; attenuates interaction with PEX10 and decreases peroxisomal protein import: in dbSNP rsrs28936697</ul>	protein import	GO:0017038					<li>O60683</li><li>Q9SYU4</li><li>Q8HXW8</li><li>Q92265</li><li>Q05568</li><li>Q00940</li>		<li>rs12941376</li><li>rs28936697</li>	2
O00625	8544	<ul><li>V->A at 228: in dbSNP:rs34104000</ul>									rs34104000	2
O00628	5191	<ul><li>T->P at 14: in RD, MIM: 266500<li>G->R at 217: in RCDP1; could be a polymorphism, MIM: 215100<li>A->V at 218: in RCDP1, MIM: 215100</ul>								<li>Refsum disease (RD) [MIM:266500]</li><li>Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]</li>		2
O00634	4917	<ul><li>P->S at 425: in dbSNP:rs34818219</ul>									rs34818219	2
O00635	10475	<ul><li>G->R at 421: in dbSNP:rs10317</ul>									rs10317	2
O00716	1871	<ul><li>G->R at 344: in dbSNP:rs4134973<li>D->N at 389: in dbSNP:rs4134982</ul>									<li>rs4134982</li><li>rs4134973</li>	2
O00748	8824	<ul><li>R->W at 34<li>R->H at 206</ul>										2
O00754	4125	<ul><li>H->L at 72: in AM; type II, MIM: 248500<li>H->L at 200: in AM; no residual enzyme activity, MIM: 248500<li>A->S at 250: in dbSNP:rs3745650, MIM: 248500<li>L->V at 278: in dbSNP:rs1054486, MIM: 248500<li>T->I at 312: in dbSNP:rs1054487, MIM: 248500<li>R->Q at 337: in dbSNP:rs1133330, MIM: 248500<li>T->P at 355: in AM, MIM: 248500<li>P->R at 356: in AM; type I, MIM: 248500<li>E->K at 402: in AM, MIM: 248500<li>N->S at 413: in dbSNP:rs35836657, MIM: 248500<li>S->Y at 453: in AM, MIM: 248500<li>A->S at 481: in dbSNP:rs34544747, MIM: 248500<li>W->R at 714: in AM, MIM: 248500<li>R->W at 750: in AM; type II, MIM: 248500<li>G->D at 801: in AM; no residual enzyme activity, MIM: 248500<li>L->P at 809: in AM, MIM: 248500</ul>								Lysosomal alpha-mannosidosis (AM) [MIM:248500]	<li>rs1054487</li><li>rs1054486</li><li>rs34544747</li><li>rs3745650</li><li>rs35836657</li><li>rs1133330</li>	2
O00755	7476	<ul><li>A->T at 109: in Fuhrmann syndrome; retains activity that is significant but not comparable to wild-type activity, MIM: 228930<li>R->C at 292: in LPHAS; results in a loss of function mutation with some residual activity, MIM: 276820</ul>								<li>Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) [MIM:276820]</li><li>Fuhrmann syndrome [MIM:228930]</li>		2
O00757	8789	<ul><li>V->L at 86: in dbSNP:rs573212</ul>									rs573212	2
O00762	11065	<ul><li>G->D at 25</ul>										2
O00763	32	<ul><li>I->V at 552: in dbSNP:rs16940029<li>A->T at 651: in dbSNP:rs2300455<li>I->V at 2141: in dbSNP:rs2075260</ul>									<li>rs2300455</li><li>rs16940029</li><li>rs2075260</li>	2
O00767	6319	<ul><li>M->L at 224: in dbSNP:rs2234970</ul>									rs2234970	2
O14490	9229	<ul><li>R->Q at 816: in dbSNP:rs35822832</ul>									rs35822832	2
O14498	3671	<ul><li>D->N at 183: in a colorectal cancer sample; somatic mutation</ul>										2
O14508	8835	<ul><li>S->N at 52: in dbSNP:rs3741676</ul>									rs3741676	2
O14513	344148	<ul><li>S->T at 600: in dbSNP:rs17325719<li>V->I at 937: in dbSNP:rs12611515<li>I->T at 977: in dbSNP:rs12691830<li>N->Y at 1093: in dbSNP:rs16841277<li>P->Q at 1260: in dbSNP:rs13016342<li>V->A at 1403: in dbSNP:rs2278752</ul>									<li>rs2278752</li><li>rs17325719</li><li>rs13016342</li><li>rs12691830</li><li>rs12611515</li><li>rs16841277</li>	2
O14521	6392	<ul><li>G->S at 12: polymorphism that may increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; associated with features of Cowden-like syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with 1.9-fold increase in both AKT and MAPK expression; dbSNP:rs34677591<li>H->R at 50: polymorphism that may increase susceptibility for developing paraganglioma, breast and tyroid carcinoma; may be involved in somatic Merkel cell carcinoma; associated with features of Cowden-like syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression; dbSNP:rs11214077<li>P->L at 81: in PGL1 and pheochromocytoma, MIM: 171300<li>D->Y at 92: in PGL1 and pheochromocytoma, MIM: 171300<li>Missing  at 93: in PGL1, MIM: 171300<li>H->L at 102: in PGL1, MIM: 168000<li>Y->C at 114: in PGL1, MIM: 168000<li>L->P at 139: in PGL1, MIM: 168000<li>H->N at 145: found in an individual with features of Cowden-like syndrome; associated with increased manganese superoxide dismutase expression; asociated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression, MIM: 168000<li>G->V at 148: in PLG1, MIM: 168000</ul>							<li>P47180</li><li>O42781</li><li>Q00859</li><li>O50258</li><li>P27638</li>	<li>Hereditary paraganglioma type 1 (PGL1) [MIM:168000]</li><li>Pheochromocytoma [MIM:171300]</li>	<li>rs11214077</li><li>rs34677591</li>	2
O14522	11122	<ul><li>A->P at 29: in dbSNP:rs2867655<li>F->S at 74: in a colorectal cancer<li>M->V at 76: in dbSNP:rs17811401<li>A->T at 209: in some colorectal cancers<li>K->T at 218: in a gastric cancer<li>F->S at 248: in a colorectal cancer<li>Y->H at 280: in a colorectal cancer<li>I->V at 395: in a colorectal cancer: in dbSNP rsrs41279256<li>Y->F at 412: in a colorectal cancer<li>R->C at 453: in a gastric cancer<li>N->K at 510: in a colorectal cancer<li>T->M at 605: in a colorectal cancer<li>V->G at 648: in a colorectal cancer<li>A->T at 707: in a colorectal cancer<li>A->V at 707: in a colorectal cancer<li>L->P at 708: in a colorectal cancer<li>R->I at 790: in a lung cancer<li>D->G at 927: in a colorectal cancer<li>Q->K at 987: in a colorectal cancer; reduced phosphatase activity<li>A->P at 1118: in a colorectal cancer<li>N->I at 1128: in a colorectal cancer; reduced phosphatase activity<li>R->W at 1212: in a colorectal cancer; reduced phosphatase activity<li>P->L at 1235: in an acute myeloid leukemia sample; somatic mutation<li>M->L at 1259: in a colorectal cancer<li>V->M at 1269: in a colorectal cancer<li>R->L at 1346: in a lung cancer; reduced phosphatase activity<li>Y->F at 1351: in a colorectal cancer<li>T->M at 1368: in some colorectal cancers; reduced phosphatase activity</ul>							<li>Q5X1E5</li><li>Q7M7K5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q88A53</li><li>Q5P3T0</li><li>Q7MBF4</li><li>Q8Z3M9</li><li>Q5PC82</li><li>Q5ZRX9</li><li>Q821A6</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8P5D4</li><li>Q8CWL6</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q9L7A3</li><li>Q88QU2</li><li>Q6D160</li><li>Q8ZI64</li><li>Q60CQ4</li><li>Q87DS9</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		<li>rs17811401</li><li>rs41279256</li><li>rs2867655</li>	2
O14523	9854	<ul><li>R->W at 413: in dbSNP:rs2239896</ul>									rs2239896	2
O14525	460	<ul><li>G->R at 1270: in dbSNP:rs12118933</ul>									rs12118933	2
O14543	9021	<ul><li>H->Y at 125: in dbSNP:rs1061489</ul>									rs1061489	2
O14556	26330	<ul><li>D->N at 110: in dbSNP:rs2285514</ul>									rs2285514	2
O14576	1780	<ul><li>N->T at 582: in dbSNP:rs35077523</ul>									rs35077523	2
O14578	11113	<ul><li>G->E at 7: in dbSNP rsrs36054900<li>R->Q at 9: in dbSNP rsrs56193743<li>L->F at 183</ul>									<li>rs56193743</li><li>rs36054900</li>	2
O14579	11316	<ul><li>S->C at 13: in dbSNP:rs2231987<li>T->I at 117: in dbSNP:rs10330</ul>									<li>rs2231987</li><li>rs10330</li>	2
O14581	26333	<ul><li>V->A at 37: in dbSNP:rs10405148<li>I->T at 46: in dbSNP:rs10405129<li>A->S at 69: in dbSNP:rs10404119<li>A->T at 237: in dbSNP:rs13345394</ul>									<li>rs10405148</li><li>rs10404119</li><li>rs10405129</li><li>rs13345394</li>	2
O14582	6399	<ul><li>D->Y at 47: in SEDT, MIM: 313400<li>S->L at 73: in SEDT, MIM: 313400<li>F->S at 83: in SEDT; mild form, MIM: 313400<li>V->D at 130: in SEDT, MIM: 313400</ul>								Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]		2
O14593	8625	<ul><li>E->D at 48: in dbSNP:rs34282046<li>L->P at 195: in BLS2, MIM: 209920<li>Q->E at 251: in dbSNP:rs1802498, MIM: 209920</ul>								Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	<li>rs34282046</li><li>rs1802498</li>	2
O14594	1463	<ul><li>A->T at 70: in dbSNP:rs2228601<li>P->S at 92: in dbSNP:rs2228603<li>A->V at 1254: in dbSNP:rs1064389</ul>									<li>rs1064389</li><li>rs2228601</li><li>rs2228603</li>	2
O14610	2793	<ul><li>L->F at 11: in dbSNP:rs9895097</ul>									rs9895097	2
O14613	10435	<ul><li>N->S at 176: in dbSNP:rs4149839<li>I->F at 191: in dbSNP:rs7120634</ul>									<li>rs7120634</li><li>rs4149839</li>	2
O14617	8943	<ul><li>G->R at 541: in dbSNP:rs34569645<li>I->V at 1072: in dbSNP:rs25673</ul>									<li>rs34569645</li><li>rs25673</li>	2
O14625	6373	<ul><li>N->S at 55: in dbSNP:rs4859596</ul>									rs4859596	2
O14626	29909	<ul><li>I->V at 283: in dbSNP:rs3732756</ul>									rs3732756	2
O14633	26239	<ul><li>I->S at 51: in dbSNP:rs3737859</ul>									rs3737859	2
O14638	5169	<ul><li>V->M at 620: in dbSNP:rs9321309<li>N->H at 744: in dbSNP:rs36094194<li>S->N at 786: in dbSNP:rs17601580</ul>									<li>rs17601580</li><li>rs9321309</li><li>rs36094194</li>	2
O14639	3983	<ul><li>P->T at 434: in dbSNP:rs11593544<li>R->G at 637: in dbSNP:rs7091419</ul>									<li>rs11593544</li><li>rs7091419</li>	2
O14645		<ul><li>A->V at 65: in dbSNP:rs11749<li>I->M at 120: in a colorectal cancer sample; somatic mutation</ul>									rs11749	2
O14653	9570	<ul><li>R->K at 67: in dbSNP:rs197922</ul>									rs197922	2
O14654	8471	<ul><li>A->V at 20: in a colorectal cancer sample; somatic mutation<li>L->F at 34: in dbSNP:rs1801162<li>G->E at 215: in a colorectal cancer sample; somatic mutation<li>N->K at 508: in dbSNP:rs34287560<li>G->R at 557: in a colorectal cancer sample; somatic mutation<li>H->D at 879: in dbSNP:rs1801164</ul>									<li>rs1801164</li><li>rs34287560</li><li>rs1801162</li>	2
O14656	1861	<ul><li>D->H at 216: in dbSNP:rs1801968<li>D->H at 264<li>Missing  at 303: in DYT1</ul>							<li>Q60HG2</li><li>Q9ERA9</li><li>O14656</li>		rs1801968	2
O14668	5638	<ul><li>F->I at 60: in a breast cancer sample; somatic mutation</ul>										2
O14669	5639	<ul><li>P->S at 22: in dbSNP:rs35016366<li>G->C at 116: in dbSNP:rs2288920</ul>									<li>rs2288920</li><li>rs35016366</li>	2
O14678	5826	<ul><li>V->I at 172: in dbSNP:rs34992370<li>A->T at 304: in dbSNP:rs4148077<li>T->R at 350: in dbSNP:rs35073715<li>E->K at 368: in dbSNP:rs3742801</ul>									<li>rs35073715</li><li>rs4148077</li><li>rs34992370</li><li>rs3742801</li>	2
O14682	8507	<ul><li>I->S at 256: in dbSNP:rs16872126</ul>									rs16872126	2
O14686	8085	<ul><li>R->H at 4949: in dbSNP:rs3782356</ul>									rs3782356	2
O14717	1787	<ul><li>H->Y at 101: in dbSNP:rs11254413</ul>									rs11254413	2
O14730	8780	<ul><li>L->V at 336: in dbSNP:rs35401850<li>R->Q at 441: in dbSNP:rs33969048<li>S->L at 447: in dbSNP rsrs56282762</ul>									<li>rs56282762</li><li>rs35401850</li><li>rs33969048</li>	2
O14732	3613	<ul><li>A->T at 88: in dbSNP:rs16976948</ul>									rs16976948	2
O14733	5609	<ul><li>N->S at 118: in dbSNP rsrs56316660<li>R->C at 138: in dbSNP rsrs56106612<li>R->C at 162: in a colorectal adenocarcinoma sample; somatic mutation<li>R->H at 162: in a colorectal adenocarcinoma sample; somatic mutation<li>A->T at 195: in dbSNP rsrs55800262<li>L->F at 259: in dbSNP:rs1053566</ul>									<li>rs56316660</li><li>rs1053566</li><li>rs56106612</li><li>rs55800262</li>	2
O14735	10423	<ul><li>R->C at 199: in dbSNP:rs1802002</ul>									rs1802002	2
O14745	9368	<ul><li>L->V at 110: in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP : in dbSNP rsrs35910969, MIM: 612287<li>R->Q at 153: in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065, MIM: 612287<li>E->K at 225: in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport, MIM: 612287</ul>	phosphate transport	GO:0006817					<li>P47329</li><li>Q9KGJ3</li><li>Q87A24</li><li>Q92N67</li><li>Q724K0</li><li>Q6GBY6</li><li>Q72IA8</li><li>P56077</li><li>Q5F9L4</li><li>Q63HI2</li><li>Q8E2I1</li><li>Q5FFA3</li><li>Q9KQ21</li><li>Q5ZS66</li><li>Q66AY1</li><li>P59490</li><li>Q89YZ2</li><li>Q6YP15</li><li>Q5WAD6</li><li>Q82HE5</li><li>Q6ADQ8</li><li>Q6AAC7</li><li>Q980V1</li><li>P65867</li><li>P65868</li><li>Q9GL67</li><li>P65865</li><li>P44682</li><li>P65866</li><li>P65869</li><li>Q83HD8</li><li>Q7NQT1</li><li>Q92F62</li><li>P65863</li><li>P57820</li><li>P65864</li><li>Q8K9V3</li><li>Q8YYK4</li><li>Q5N2J4</li><li>Q9HLW6</li><li>Q64X30</li><li>Q5PCR7</li><li>Q8DFF4</li><li>Q9AAV9</li><li>Q8E7Y8</li><li>Q73FF7</li><li>Q7N5A1</li><li>Q63XM0</li><li>Q6GJG9</li><li>Q8CXP8</li><li>O24006</li><li>Q7NN75</li><li>Q8Q0M4</li><li>Q6G0F9</li><li>Q8EHN5</li><li>Q81J96</li><li>Q8DJ45</li><li>Q6NI78</li><li>P78034</li><li>Q98PE2</li><li>Q5L3U7</li><li>Q6LNA9</li><li>O28185</li><li>Q8UD97</li><li>O83975</li><li>Q7WNY2</li><li>Q92H41</li><li>Q7VUH3</li><li>Q5NGZ6</li><li>Q8R757</li><li>Q86Y79</li><li>Q7VDT7</li><li>P0A282</li><li>P0A281</li><li>Q5P9A6</li><li>Q74FE6</li><li>Q5M222</li><li>Q9YBD6</li><li>Q65ZY7</li><li>Q5HRQ3</li><li>O84806</li><li>Q6MJR3</li><li>Q6MS28</li><li>Q6YR64</li><li>Q7MMZ2</li><li>Q8XHJ8</li><li>Q8CQU9</li><li>Q8U0N0</li><li>Q9F8Q3</li><li>Q88Z39</li><li>Q7U9I5</li><li>P37470</li><li>Q9XT35</li><li>Q5V1D3</li><li>Q6G2L1</li><li>Q5X1N7</li><li>Q5P722</li><li>Q8RIJ5</li><li>Q97CB4</li><li>O85235</li><li>Q7MXK9</li><li>Q5GTI9</li><li>Q9X1W1</li><li>Q5XEM3</li><li>Q9ZJC3</li><li>Q5HIH3</li><li>Q8P327</li><li>Q67JD0</li><li>Q6D557</li><li>Q81VY9</li><li>Q60363</li><li>Q8RLD7</li><li>Q7V4V4</li><li>Q888C8</li><li>Q8DWN5</li><li>Q65PG8</li><li>Q8PNT8</li><li>Q82TQ6</li><li>Q9CD49</li><li>Q8ZEY4</li><li>Q8KD05</li><li>Q73II8</li><li>Q7UKV0</li><li>Q5NL75</li><li>Q27IM2</li><li>Q741V9</li><li>Q62FC1</li><li>P38876</li><li>Q6F240</li><li>Q72BR1</li><li>P15743</li><li>Q8PC61</li><li>P04089</li><li>Q9PA78</li><li>Q9V108</li><li>P47714</li><li>Q5HWF9</li><li>Q8DRQ2</li><li>Q5FMA9</li><li>Q9PII7</li><li>Q5JDB8</li><li>Q7W179</li><li>Q899I4</li><li>P49607</li><li>Q6HPW6</li><li>Q8G5I6</li><li>Q65V47</li><li>Q9AEQ5</li><li>Q8ZYM4</li><li>Q8K8Z7</li><li>O27732</li><li>Q5YPZ6</li><li>Q88PX8</li><li>Q89DJ9</li><li>P01269</li><li>Q8TV04</li><li>Q5LV91</li><li>P01268</li><li>Q9RRW3</li><li>Q976I0</li><li>Q9PR67</li><li>Q60A14</li><li>P01270</li><li>Q97TD1</li><li>P61234</li><li>P61235</li><li>Q8Y2E3</li><li>Q5SHZ2</li><li>Q83AP0</li><li>Q9HVC3</li><li>Q57NM8</li><li>Q87RN9</li><li>Q68WD4</li><li>Q9K029</li><li>Q6AJL9</li><li>Q8D2K4</li><li>Q8F3Q2</li><li>Q8FQV6</li><li>Q9ZCV4</li><li>Q72RZ0</li><li>Q8BW00</li><li>Q83LE1</li><li>P61414</li><li>P57287</li><li>Q5FRT7</li><li>Q877G5</li><li>Q9Z6V6</li><li>Q5WTE7</li><li>Q839C0</li><li>Q59989</li><li>Q7V342</li><li>P0A7D1</li><li>P0A7D2</li><li>Q9CJI1</li><li>P0A7D3</li><li>Q6N1P9</li><li>O74806</li><li>Q83FR1</li><li>Q7VG29</li><li>Q9J5H2</li><li>Q6F8I7</li><li>O66677</li><li>Q6KHA3</li><li>Q7M7U8</li><li>Q74LA8</li><li>Q98HV6</li><li>Q5HC85</li><li>Q5M6L4</li><li>P52212</li><li>Q8EWQ8</li><li>Q7VMI1</li><li>Q8YAD1</li><li>Q9JV42</li><li>O74017</li><li>Q601M5</li><li>Q9K3T8</li><li>Q97E97</li><li>Q73Q01</li><li>Q5QV03</li><li>Q9A206</li><li>Q5GWR6</li><li>Q821W6</li><li>Q8TKX4</li>	Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	<li>rs35910969</li><li>rs41282065</li>	2
O14746	7015	<ul><li>A->T at 202: in AA susceptibility; severe and moderate<li>A->T at 279<li>H->Y at 412: in AA susceptibility; severe and moderate; dbSNP:rs34094720<li>Missing at 441<li>V->M at 694: in AA susceptibility; moderate<li>Y->C at 772: in AA susceptibility; moderate<li>R->H at 865: in idiopathic pulmonary fibrosis susceptibility<li>K->N at 902: in ADDKC, MIM: 127550<li>S->R at 948: in dbSNP:rs34062885, MIM: 127550<li>A->T at 1062: in dbSNP rsrs35719940, MIM: 127550<li>V->M at 1090: in AA susceptibility; severe, MIM: 127550</ul>								Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	<li>rs34062885</li><li>rs35719940</li><li>rs34094720</li>	2
O14757	1111	<ul><li>R->Q at 156: in dbSNP:rs3731410<li>E->V at 223: in dbSNP rsrs35817404<li>V->M at 312: in dbSNP rsrs34097480<li>V->I at 471: in dbSNP:rs506504</ul>									<li>rs34097480</li><li>rs35817404</li><li>rs3731410</li><li>rs506504</li>	2
O14763	8795	<ul><li>P->L at 32: in dbSNP:rs1129424<li>A->V at 67: in dbSNP:rs1047266</ul>									<li>rs1047266</li><li>rs1129424</li>	2
O14764	2563	<ul><li>E->A at 177: in GEFS+5; reduced receptor current amplitudes, MIM: 604233<li>R->C at 220: in a GEFS+ family; does not affect receptor current amplitudes; could be a rare polymorphism, MIM: 604233<li>R->H at 220: may contribute to epilepsy; reduced receptor current amplitudes; dbSNP:rs41307846, MIM: 604233</ul>								Generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:604233]	rs41307846	2
O14773	1200	<ul><li>S->L at 62: in dbSNP:rs2734715<li>G->R at 77: in LINCL, MIM: 204500<li>Q->R at 100: in dbSNP:rs1800746, MIM: 204500<li>R->Q at 127: in LINCL, MIM: 204500<li>S->P at 153: in LINCL, MIM: 204500<li>R->H at 175, MIM: 204500<li>R->C at 185: in dbSNP:rs34758634, MIM: 204500<li>R->C at 206: in LINCL; dbSNP:rs28940573, MIM: 204500<li>R->H at 206: in LINCL, MIM: 204500<li>V->M at 277: in LINCL, MIM: 204500<li>Q->P at 278: in LINCL, MIM: 204500<li>G->V at 284: in LINCL, MIM: 204500<li>N->S at 286: in LINCL, MIM: 204500<li>I->N at 287: in LINCL, MIM: 204500<li>E->K at 343: in LINCL, MIM: 204500<li>T->P at 353: in LINCL, MIM: 204500<li>C->R at 365: in LINCL, MIM: 204500<li>C->Y at 365: in LINCL, MIM: 204500<li>V->D at 385: in LINCL, MIM: 204500<li>G->E at 389: in LINCL, MIM: 204500<li>Q->H at 422: in LINCL, MIM: 204500<li>K->N at 428: in LINCL, MIM: 204500<li>R->H at 447: in LINCL, MIM: 204500<li>A->E at 454: in LINCL, MIM: 204500<li>G->R at 473: in LINCL, MIM: 204500<li>S->L at 475: in LINCL, MIM: 204500<li>F->C at 481: in LINCL, MIM: 204500</ul>								Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) [MIM:204500]	<li>rs2734715</li><li>rs34758634</li><li>rs1800746</li><li>rs28940573</li>	2
O14775	10681	<ul><li>A->V at 213: in dbSNP:rs34637551</ul>									rs34637551	2
O14777	10403	<ul><li>S->A at 66: in dbSNP:rs16943490<li>E->D at 348: in dbSNP:rs12456560<li>A->P at 605: in dbSNP:rs1983346</ul>									<li>rs16943490</li><li>rs12456560</li><li>rs1983346</li>	2
O14786		<ul><li>V->A at 179: in dbSNP:rs7079053<li>F->L at 561: in dbSNP:rs2228637</ul>									<li>rs7079053</li><li>rs2228637</li>	2
O14788	8600	<ul><li>M->K at 199: in OPTB2, MIM: 259710</ul>								Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]		2
O14791	8542	<ul><li>E->K at 150: in dbSNP:rs2239785<li>I->T at 188: in a breast cancer sample; somatic mutation<li>M->I at 228: in dbSNP:rs136175<li>R->K at 255: in dbSNP:rs136176<li>D->N at 337: in dbSNP:rs16996616</ul>									<li>rs2239785</li><li>rs136175</li><li>rs16996616</li><li>rs136176</li>	2
O14792	9957	<ul><li>P->T at 22: in dbSNP:rs11559238<li>K->R at 295: in dbSNP:rs34719057</ul>									<li>rs11559238</li><li>rs34719057</li>	2
O14793	2660	<ul><li>A->T at 55: in dbSNP:rs1805085<li>K->R at 153: in dbSNP:rs1805086<li>I->T at 348: in dbSNP:rs34780010<li>R->G at 371: in dbSNP:rs16823988</ul>									<li>rs34780010</li><li>rs1805086</li><li>rs1805085</li><li>rs16823988</li>	2
O14795	10497	<ul><li>P->S at 209: in a colorectal cancer sample; somatic mutation<li>D->E at 238: in dbSNP:rs35199210<li>E->D at 1232: in dbSNP:rs12339582</ul>									<li>rs35199210</li><li>rs12339582</li>	2
O14796	117157	<ul><li>I->T at 36: in dbSNP:rs35688243<li>N->K at 122: in dbSNP:rs34001279</ul>									<li>rs34001279</li><li>rs35688243</li>	2
O14798	8794	<ul><li>T->N at 199: in dbSNP:rs12550828<li>T->I at 229: in dbSNP:rs9644063</ul>									<li>rs12550828</li><li>rs9644063</li>	2
O14802	11128	<ul><li>R->L at 582: in dbSNP:rs34588967<li>K->N at 713: in dbSNP:rs35354908</ul>									<li>rs35354908</li><li>rs34588967</li>	2
O14813	401	<ul><li>A->V at 72: in CFEOM2, MIM: 602078<li>P->Q at 256: may be involved in congenital central hypoventilation syndrome, MIM: 602078</ul>								Congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078]		2
O14815	10753	<ul><li>A->V at 102: in dbSNP:rs12562749<li>S->R at 122: in dbSNP:rs28359608<li>D->N at 164: in dbSNP:rs28359632<li>I->T at 234: in dbSNP:rs28359644<li>A->T at 239: in dbSNP:rs28359647<li>R->W at 277: in dbSNP:rs28359655<li>K->Q at 322: in dbSNP:rs1933631<li>H->Q at 327: in dbSNP:rs28359684<li>E->K at 342: in dbSNP:rs16852652<li>R->W at 458: in dbSNP:rs28359688<li>R->W at 522: in dbSNP:rs12731961<li>M->I at 611: in dbSNP:rs16852683</ul>									<li>rs28359632</li><li>rs12731961</li><li>rs28359655</li><li>rs28359608</li><li>rs28359644</li><li>rs28359684</li><li>rs28359647</li><li>rs28359688</li><li>rs1933631</li><li>rs16852683</li><li>rs16852652</li><li>rs12562749</li>	2
O14817	7106	<ul><li>I->M at 67: in a breast cancer sample; somatic mutation</ul>										2
O14827	5924	<ul><li>R->H at 114: in a colorectal cancer sample; somatic mutation<li>D->N at 538: in a breast cancer sample; somatic mutation<li>L->W at 713: in dbSNP:rs16878472<li>D->E at 1216: in a breast cancer sample; somatic mutation</ul>									rs16878472	2
O14828	10067	<ul><li>L->R at 38: in dbSNP:rs760073<li>V->A at 235: in dbSNP:rs1318328<li>I->N at 239: in dbSNP:rs909106<li>V->D at 242: in dbSNP:rs909107</ul>									<li>rs1318328</li><li>rs760073</li><li>rs909107</li><li>rs909106</li>	2
O14829	5475	<ul><li>K->T at 367: in dbSNP:rs1065074<li>G->S at 443: in dbSNP:rs11796620</ul>									<li>rs1065074</li><li>rs11796620</li>	2
O14830	5470	<ul><li>S->R at 120<li>V->L at 394: in dbSNP:rs34097437<li>E->K at 412: in dbSNP:rs35599561<li>R->K at 553: in dbSNP:rs34155925<li>S->C at 575: in dbSNP:rs17000961</ul>									<li>rs34155925</li><li>rs35599561</li><li>rs34097437</li><li>rs17000961</li>	2
O14832	5264	<ul><li>P->S at 29: in RD; could be a rare polymorphism: in dbSNP rsrs28938169, MIM: 266500<li>N->Y at 83: in RD, MIM: 266500<li>P->S at 173: in RD, MIM: 266500<li>H->R at 175: in RD, MIM: 266500<li>Q->K at 176: in RD: in dbSNP rsrs28939672, MIM: 266500<li>D->G at 177: in RD; total loss of activity, MIM: 266500<li>A->AA at 192: in RD, MIM: 266500<li>W->R at 193: in RD, MIM: 266500<li>E->Q at 197: in RD, MIM: 266500<li>I->F at 199: in RD, MIM: 266500<li>G->S at 204: in RD; total loss of activity: in dbSNP rsrs28939673, MIM: 266500<li>G->S at 215: in dbSNP:rs7901902, MIM: 266500<li>H->Y at 220: in RD, MIM: 266500<li>R->Q at 245: in RD; partial loss of activity, MIM: 266500<li>F->S at 257: in RD, MIM: 266500<li>N->H at 269: in RD, MIM: 266500<li>R->Q at 275: in RD; total loss of activity: in dbSNP rsrs28939674, MIM: 266500<li>R->W at 275: in RD; total loss of activity: in dbSNP rsrs28939671, MIM: 266500</ul>								Refsum disease (RD) [MIM:266500]	<li>rs7901902</li><li>rs28939673</li><li>rs28939674</li><li>rs28939671</li><li>rs28939672</li><li>rs28938169</li>	2
O14836	23495	<ul><li>C->R at 104: in CVID and IGAD2: in dbSNP rsrs34557412, MIM: 609529<li>A->G at 181: in CVID, MIM: 240500<li>R->H at 202: in CVID, MIM: 240500<li>P->L at 251: in dbSNP:rs34562254, MIM: 240500</ul>								<li>Common variable immunodeficiency (CVID) [MIM:240500]</li><li>Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]</li>	<li>rs34562254</li><li>rs34557412</li>	2
O14841	26873	<ul><li>S->R at 284: in dbSNP:rs3935209</ul>									rs3935209	2
O14842	2864	<ul><li>R->H at 211: in dbSNP:rs2301151</ul>									rs2301151	2
O14862	9447	<ul><li>E->K at 32: in dbSNP:rs2276405<li>C->Y at 304</ul>									rs2276405	2
O14867	571	<ul><li>S->P at 314: in dbSNP:rs35474725</ul>									rs35474725	2
O14880	4259	<ul><li>G->C at 15: in dbSNP:rs1802087<li>P->S at 48: in dbSNP:rs1802088</ul>									<li>rs1802088</li><li>rs1802087</li>	2
O14896	3664	<ul><li>A->V at 2: in VWS: in dbSNP rsrs28942093, MIM: 119300<li>R->C at 6: in VWS: in dbSNP rsrs28942094, MIM: 119300<li>A->V at 16: in VWS, MIM: 119300<li>V->A at 18: in VWS, MIM: 119300<li>V->M at 18: in VWS, MIM: 119300<li>L->P at 22: in VWS and PPS, MIM: 119300<li>P->A at 39: in VWS, MIM: 119300<li>R->Q at 45: in VWS, MIM: 119300<li>W->G at 60: in PPS, MIM: 119500<li>A->G at 61: in VWS, MIM: 119300<li>T->I at 64: in VWS, MIM: 119300<li>K->T at 66: in PPS, MIM: 119500<li>G->R at 70: in VWS, MIM: 119300<li>P->S at 76: in VWS, MIM: 119300<li>Q->K at 82: in PPS, MIM: 119500<li>R->C at 84: in PPS, MIM: 119500<li>R->G at 84: in VWS, MIM: 119300<li>R->H at 84: in PPS, MIM: 119500<li>N->H at 88: in VWS, MIM: 119300<li>K->E at 89: in PPS, MIM: 119500<li>S->G at 90: in VWS, MIM: 119300<li>D->H at 98: in VWS, MIM: 119300<li>T->A at 100: in VWS, MIM: 119300<li>R->Q at 250: in VWS, MIM: 119300<li>L->P at 251: in VWS, MIM: 119300<li>Q->R at 273: in VWS, MIM: 119300<li>V->I at 274: common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child; dbSNP:rs2235371, MIM: 119300<li>FTSKLLD->L at 290-296: in VWS, MIM: 119300<li>L->P at 294: in VWS, MIM: 119300<li>V->I at 297: in VWS, MIM: 119300<li>K->E at 320: in VWS, MIM: 119300<li>V->M at 321: in VWS, MIM: 119300<li>G->E at 325: in VWS, MIM: 119300<li>L->P at 345: in VWS, MIM: 119300<li>C->F at 347: in VWS, MIM: 119300<li>E->V at 349: in VWS, MIM: 119300<li>F->S at 369: in VWS, MIM: 119300<li>C->W at 374: in VWS, MIM: 119300<li>K->E at 388: in VWS, MIM: 119300<li>P->S at 396: in VWS, MIM: 119300<li>R->W at 400: in VWS: in dbSNP rsrs28942095, MIM: 119300<li>D->N at 430: in PPS, MIM: 119500</ul>							Q9BT40	<li>Popliteal pterygium syndrome (PPS) [MIM:119500]</li><li>Van der Woude syndrome (VWS) [MIM:119300]</li>	<li>rs28942095</li><li>rs2235371</li><li>rs28942094</li><li>rs28942093</li>	2
O14901	8462	<ul><li>Q->R at 62: high frequency in individuals with diabetes mellitus type 2; increased repression activity; increased binding to mSin3A; impairs activation of insulin promoter; dbSNP:rs35927125<li>T->M at 220: in MODY7; absent in one family member with diabetes; increased repression activity; no alteration in binding affinity to mSin3A; dbSNP:rs34336420, MIM: 610508<li>A->S at 347: in MODY7; increased repression activity; no alteration in binding affinity to mSin3A, MIM: 610508<li>S->F at 378: in dbSNP:rs35476458, MIM: 610508</ul>			binding	GO:0005488			<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>	Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]	<li>rs35476458</li><li>rs34336420</li><li>rs35927125</li>	2
O14904	7483	<ul><li>A->T at 260: in dbSNP:rs8192633</ul>									rs8192633	2
O14905	7484	<ul><li>T->M at 106: in dbSNP:rs4968281</ul>									rs4968281	2
O14920	3551	<ul><li>A->S at 360: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation<li>Q->R at 369: in dbSNP rsrs56411242<li>R->Q at 526: in dbSNP:rs2272736<li>R->W at 554: in dbSNP:rs17875749<li>A->T at 710: in dbSNP rsrs34309584<li>F->L at 734: in dbSNP rsrs56301637<li>A->T at 736: in dbSNP:rs17611716</ul>									<li>rs34309584</li><li>rs56301637</li><li>rs17611716</li><li>rs56411242</li><li>rs17875749</li><li>rs2272736</li>	2
O14921	6003	<ul><li>L->F at 150: in dbSNP:rs16834603</ul>									rs16834603	2
O14924	6002	<ul><li>I->V at 225: in dbSNP:rs7679941<li>M->L at 277: in dbSNP:rs16844152<li>N->S at 1124: in dbSNP:rs2269497</ul>									<li>rs7679941</li><li>rs2269497</li><li>rs16844152</li>	2
O14929	8520	<ul><li>A->P at 317: in a colorectal cancer sample; somatic mutation</ul>										2
O14931	259197	<ul><li>A->T at 103: in dbSNP:rs11575840<li>R->S at 174: in dbSNP:rs3179003</ul>									<li>rs11575840</li><li>rs3179003</li>	2
O14936	8573	<ul><li>G->V at 96: in a lung large cell carcinoma sample; somatic mutation</ul>										2
O14939	5338	<ul><li>R->C at 172: in dbSNP:rs2286672<li>T->I at 577: in dbSNP:rs1052748<li>A->T at 804: in dbSNP:rs11545163<li>Q->E at 807: in a breast cancer sample; somatic mutation<li>G->R at 821: in dbSNP:rs3764897</ul>									<li>rs3764897</li><li>rs1052748</li><li>rs2286672</li><li>rs11545163</li>	2
O14940	4337											2
O14944	2069	<ul><li>G->A at 42: in a breast cancer sample; somatic mutation<li>R->Q at 147: in dbSNP:rs35275884</ul>									rs35275884	2
O14948	22797	<ul><li>Q->H at 6: in dbSNP:rs35695387<li>G->S at 100: in dbSNP:rs35170691<li>L->V at 146: in a colorectal cancer sample; somatic mutation</ul>									<li>rs35695387</li><li>rs35170691</li>	2
O14949	27089	<ul><li>S->F at 45: in CIII deficiency: in dbSNP rsrs11544803, MIM: 124000</ul>							<li>P14110</li><li>P18681</li><li>P03044</li><li>P01083</li>	Mitochondrial complex III deficiency (CIII deficiency) [MIM:124000]	rs11544803	2
O14950	103910	<ul><li>E->G at 141: in dbSNP:rs14720</ul>									rs14720	2
O14958	845	<ul><li>R->Q at 33: in CPVT2; reduces calcium-dependent dimerization<li>T->A at 66: in dbSNP:rs4074536<li>V->M at 76: in dbSNP:rs10801999<li>L->H at 167: in CPVT2; alters protein folding, reduces calcium-binding and calcium-dependent oligomerization, decreases sarcoplasmic reticulum Ca, MIM: 611938<li>D->H at 307: in CPVT2; reduces calcium-binding and causes 50% decrease in calcium-dependent binding to triadin-1 and junctin, MIM: 611938</ul>	protein folding	GO:0006457	binding	GO:0005488	sarcoplasmic reticulum	GO:0016529	<li>P82179</li><li>Q28820</li><li>Q13061</li>	Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	<li>rs4074536</li><li>rs10801999</li>	2
O14960	3950	<ul><li>V->I at 58: in dbSNP:rs31517</ul>									rs31517	2
O14964	9146	<ul><li>T->S at 7<li>E->D at 400: in dbSNP:rs34868130</ul>									rs34868130	2
O14965	6790	<ul><li>G->R at 11: in dbSNP:rs6069717<li>F->I at 31: in dbSNP:rs2273535<li>P->L at 50: in dbSNP rsrs34572020<li>V->I at 57: in dbSNP:rs1047972<li>S->R at 155: in a colorectal adenocarcinoma sample; somatic mutation<li>V->M at 174: in a metastatic melanoma sample; somatic mutation<li>M->V at 373: in dbSNP rsrs33923703</ul>									<li>rs33923703</li><li>rs1047972</li><li>rs6069717</li><li>rs2273535</li><li>rs34572020</li>	2
O14967	1047	<ul><li>A->S at 160: in dbSNP:rs2567241<li>V->I at 290: in dbSNP:rs2175563<li>R->W at 352: in dbSNP:rs12513290</ul>									<li>rs2567241</li><li>rs12513290</li><li>rs2175563</li>	2
O14974	4659	<ul><li>C->W at 116: in dbSNP:rs12582646<li>T->P at 305: in dbSNP:rs2596781<li>K->N at 734: in dbSNP:rs12820960</ul>									<li>rs12582646</li><li>rs2596781</li><li>rs12820960</li>	2
O14975	11001	<ul><li>Q->K at 48: in dbSNP:rs1648348</ul>									rs1648348	2
O14976	2580	<ul><li>S->L at 144<li>V->M at 580: in dbSNP rsrs34255232<li>D->Y at 787: in dbSNP rsrs34585705<li>Q->R at 877<li>G->D at 962: in a lung neuroendocrine carcinoma sample; somatic mutation<li>T->M at 1051: in dbSNP rsrs35227944<li>Q->H at 1120: in dbSNP rsrs55801437<li>P->L at 1137: in dbSNP rsrs56169884<li>S->N at 1168: in dbSNP rsrs56326341<li>K->R at 1265: in dbSNP:rs2306242<li>D->N at 1297: in dbSNP:rs1134921</ul>									<li>rs1134921</li><li>rs55801437</li><li>rs34255232</li><li>rs35227944</li><li>rs2306242</li><li>rs34585705</li><li>rs56326341</li><li>rs56169884</li>	2
O14978	10127	<ul><li>C->S at 310: in dbSNP:rs220379<li>V->I at 534: in dbSNP:rs34236132</ul>									<li>rs34236132</li><li>rs220379</li>	2
O14983	487	<ul><li>P->L at 789: in BD; almost complete loss of Ca, MIM: 601003</ul>								Brody disease (BD) [MIM:601003]		2
O14986	8395	<ul><li>A->T at 415: in dbSNP rsrs55897616</ul>									rs55897616	2
O15013	9639	<ul><li>T->I at 357: in SNCV, MIM: 608236<li>V->I at 700: in dbSNP:rs2294039, MIM: 608236</ul>								Slowed nerve conduction velocity (SNCV) [MIM:608236]	rs2294039	2
O15015		<ul><li>N->I at 1337: in a breast cancer sample; somatic mutation</ul>										2
O15018	23037	<ul><li>Q->K at 1258: in dbSNP:rs3101878<li>T->A at 1274: in dbSNP:rs157496<li>D->E at 1343: in dbSNP:rs12520467<li>T->M at 1425: in dbSNP:rs36097367<li>A->V at 1649: in dbSNP:rs3101873<li>R->Q at 2247: in dbSNP:rs10066063</ul>									<li>rs3101873</li><li>rs36097367</li><li>rs12520467</li><li>rs10066063</li><li>rs157496</li><li>rs3101878</li>	2
O15020	6712	<ul><li>L->P at 253: in SCA5, MIM: 600224<li>Missing  at 532-544: in SCA5, MIM: 600224<li>LAAARR->W at 629-634: in SCA5, MIM: 600224<li>E->K at 774: in a colorectal cancer sample; somatic mutation, MIM: 600224<li>G->S at 825: in dbSNP:rs4930388, MIM: 600224<li>E->K at 835: in dbSNP:rs36054877, MIM: 600224<li>V->A at 1034: in dbSNP:rs506028, MIM: 600224</ul>								Spinocerebellar ataxia type 5 (SCA5) [MIM:600224]	<li>rs506028</li><li>rs36054877</li><li>rs4930388</li>	2
O15021	375449	<ul><li>Q->R at 923<li>R->W at 1957<li>P->L at 2201<li>S->C at 2293<li>E->D at 2470: in a lung squamous cell carcinoma sample; somatic mutation</ul>										2
O15027	9919	<ul><li>R->C at 861: in dbSNP:rs3812594</ul>									rs3812594	2
O15031	23654	<ul><li>K->E at 318: in dbSNP:rs28379706</ul>									rs28379706	2
O15037	23351	<ul><li>K->T at 261: in dbSNP:rs3742520<li>L->W at 270: in dbSNP:rs7151995</ul>									<li>rs3742520</li><li>rs7151995</li>	2
O15040		<ul><li>V->I at 320: in dbSNP:rs1309353<li>A->T at 386: in dbSNP:rs11845676<li>P->S at 439: in dbSNP:rs2273906<li>I->V at 683: in dbSNP:rs10149146</ul>									<li>rs1309353</li><li>rs2273906</li><li>rs11845676</li><li>rs10149146</li>	2
O15050	9881	<ul><li>P->L at 703: in dbSNP:rs17201603<li>E->G at 1090: in dbSNP:rs11712950</ul>									<li>rs17201603</li><li>rs11712950</li>	2
O15054		<ul><li>S->L at 305: in dbSNP:rs2270516</ul>									rs2270516	2
O15055	8864	<ul><li>A->S at 5: in dbSNP:rs35572922<li>S->G at 662: in FASPS; reduced in vitro phosphorylation by CSNK1E, MIM: 604348<li>V->I at 729: in dbSNP:rs4429421, MIM: 604348<li>L->V at 823: in a breast cancer sample; somatic mutation, MIM: 604348<li>V->I at 903: in dbSNP:rs35333999, MIM: 604348<li>F->Y at 949: in dbSNP:rs35998480, MIM: 604348<li>G->E at 1244: in dbSNP:rs934945, MIM: 604348</ul>	phosphorylation	GO:0016310					P49674	Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	<li>rs4429421</li><li>rs35572922</li><li>rs35998480</li><li>rs35333999</li><li>rs934945</li>	2
O15056	8871	<ul><li>E->G at 1468: in dbSNP:rs2502601</ul>									rs2502601	2
O15060	9880	<ul><li>P->A at 689: in dbSNP:rs3741576</ul>									rs3741576	2
O15061	23336	<ul><li>A->V at 272<li>V->I at 330<li>R->W at 338<li>P->L at 567<li>E->A at 612<li>P->L at 761<li>R->W at 946<li>Q->R at 976<li>P->L at 1059<li>R->P at 1067<li>S->L at 1077<li>G->E at 1386: in dbSNP:rs2292288<li>F->C at 1462: in dbSNP:rs2292287</ul>									<li>rs2292287</li><li>rs2292288</li>	2
O15062	9925	<ul><li>D->G at 300: in dbSNP:rs17502738</ul>									rs17502738	2
O15069		<ul><li>D->E at 438: in dbSNP:rs3735495<li>V->A at 498: in dbSNP:rs3735494<li>K->E at 591: in dbSNP:rs7777835<li>D->E at 1105: in dbSNP:rs10243185<li>C->F at 1152: in dbSNP:rs3735493</ul>									<li>rs3735495</li><li>rs10243185</li><li>rs7777835</li><li>rs3735494</li><li>rs3735493</li>	2
O15075	9201	<ul><li>G->C at 29: in a gastric adenocarcinoma sample; somatic mutation<li>T->M at 46: in a gastric adenocarcinoma sample; somatic mutation<li>R->Q at 93: in a gastric adenocarcinoma sample; somatic mutation<li>S->F at 291: in a gastric adenocarcinoma sample; somatic mutation<li>R->H at 292: in dbSNP:rs56185003</ul>									rs56185003	2
O15078	80184	<ul><li>W->C at 7: in JBTS5, MIM: 610188<li>K->E at 838: in dbSNP:rs11104738, MIM: 610188<li>L->W at 906: in dbSNP:rs7970228, MIM: 610188<li>R->H at 1237: in dbSNP:rs7307793, MIM: 610188<li>I->V at 1836: in dbSNP:rs11104729, MIM: 610188</ul>								Joubert syndrome type 5 (JBTS5) [MIM:610188]	<li>rs11104729</li><li>rs11104738</li><li>rs7970228</li><li>rs7307793</li>	2
O15083	26059	<ul><li>N->S at 542: in dbSNP:rs12488237</ul>									rs12488237	2
O15085	9826	<ul><li>H->R at 1427: in dbSNP:rs945508</ul>									rs945508	2
O15091	9692	<ul><li>N->S at 437: in dbSNP:rs11156878</ul>									rs11156878	2
O15111	1147	<ul><li>S->C at 126: in dbSNP rsrs34427437<li>V->A at 155: in dbSNP rsrs2230803<li>I->V at 268: in dbSNP:rs2230804</ul>									<li>rs34427437</li><li>rs2230804</li><li>rs2230803</li>	2
O15118	4864	<ul><li>C->R at 63: in NPC1, MIM: 257220<li>C->Y at 74: in NPC1, MIM: 257220<li>Q->R at 92: in NPC1, MIM: 257220<li>C->R at 113: in NPC1; partially mislocalized from late endocytic organelles diffusely to the cell periphery; localizes to the endoplasmic reticulum Rab7-negative endosomes and the cell surface; does not clears the lysosomal cholesterol accumulation in NPC1-deficient cells, MIM: 257220<li>T->M at 137: in NPC1, MIM: 257220<li>S->G at 151: in dbSNP:rs17855819, MIM: 257220<li>P->S at 166: in NPC1, MIM: 257220<li>C->G at 177: in NPC1; late infantile form, MIM: 257220<li>C->Y at 177: in NPC1, MIM: 257220<li>H->R at 215: common polymorphism in Japanese; dbSNP:rs1805081, MIM: 257220<li>N->S at 222: in NPC1: in dbSNP rsrs55680026, MIM: 257220<li>V->G at 231: in NPC1, MIM: 257220<li>P->S at 237: in NPC1; late infantile form, MIM: 257220<li>D->H at 242: in NPC1, MIM: 257220<li>D->N at 242: in NPC1, MIM: 257220<li>C->Y at 247: in NPC1, MIM: 257220<li>G->V at 248: in NPC1, MIM: 257220<li>M->R at 272: in NPC1, MIM: 257220<li>W->S at 273: colocalizes with the wild-type protein with Rab7-positive late endosomes; clears the lysosomal cholesterol accumulation in NPC1-deficient cells, MIM: 257220<li>G->D at 333, MIM: 257220<li>R->W at 372: in NPC1, MIM: 257220<li>V->A at 378: in NPC1, MIM: 257220<li>L->F at 380: in NPC1, MIM: 257220<li>W->C at 381, MIM: 257220<li>A->P at 388: in NPC1, MIM: 257220<li>R->C at 389: in NPC1, MIM: 257220<li>P->T at 401: in NPC1, MIM: 257220<li>R->P at 404: in NPC1, MIM: 257220<li>R->Q at 404: in NPC1, MIM: 257220<li>R->W at 404: in NPC1, MIM: 257220<li>P->L at 433: in NPC1, MIM: 257220<li>P->L at 434: in NPC1, MIM: 257220<li>P->S at 434, MIM: 257220<li>E->K at 451: in NPC1, MIM: 257220<li>L->P at 472, MIM: 257220<li>S->P at 473: in NPC1; late infantile form, MIM: 257220<li>P->L at 474: in NPC1, MIM: 257220<li>C->Y at 479: in NPC1, MIM: 257220<li>Y->S at 509: in NPC1, MIM: 257220<li>H->P at 510: in NPC1; late infantile form, MIM: 257220<li>T->M at 511: in dbSNP:rs13381670, MIM: 257220<li>H->R at 512: in NPC1, MIM: 257220<li>R->Q at 518: in NPC1; late infantile form; Common in Japanese, MIM: 257220<li>R->W at 518: in NPC1, MIM: 257220<li>A->S at 521: in NPC1, MIM: 257220<li>F->L at 537: in NPC1, MIM: 257220<li>P->L at 543: in NPC1, MIM: 257220<li>T->K at 574: in NPC1, MIM: 257220<li>K->R at 576: in NPC1, MIM: 257220<li>A->V at 605: in NPC1, MIM: 257220<li>E->D at 612: in NPC1, MIM: 257220<li>R->C at 615: in NPC1, MIM: 257220<li>R->L at 615: in NPC1, MIM: 257220<li>M->R at 631: in NPC1, MIM: 257220<li>G->R at 640: in NPC1, MIM: 257220<li>M->I at 642: in dbSNP:rs1788799, MIM: 257220<li>S->W at 652: in NPC1, MIM: 257220<li>G->S at 660: in NPC1, MIM: 257220<li>V->M at 664: in NPC1, MIM: 257220<li>S->N at 666: in NPC1, MIM: 257220<li>C->W at 670: in NPC1, MIM: 257220<li>G->V at 673: in NPC1, MIM: 257220<li>L->F at 684: in NPC1, MIM: 257220<li>P->L at 691: in NPC1, MIM: 257220<li>L->V at 695: in NPC1, MIM: 257220<li>D->N at 700: in NPC1, MIM: 257220<li>F->S at 703: in NPC1, MIM: 257220<li>L->P at 724: in NPC1, MIM: 257220<li>V->F at 727: in NPC1, MIM: 257220<li>S->I at 734: in NPC1, MIM: 257220<li>E->K at 742: in NPC1, MIM: 257220<li>A->E at 745: in NPC1, MIM: 257220<li>M->K at 754: in NPC1, MIM: 257220<li>V->A at 757, MIM: 257220<li>F->L at 763: in NPC1, MIM: 257220<li>A->V at 767: in NPC1, MIM: 257220<li>Q->P at 775: in NPC1, MIM: 257220<li>R->C at 789: in NPC1, MIM: 257220<li>R->G at 789: in NPC1, MIM: 257220<li>Y->C at 825: in NPC1, MIM: 257220<li>S->I at 849: in NPC1, MIM: 257220<li>I->V at 858: common polymorphism in Japanese; dbSNP:rs1805082, MIM: 257220<li>Q->L at 862: in NPC1, MIM: 257220<li>S->L at 865: in NPC1, MIM: 257220<li>Y->C at 871: in NPC1, MIM: 257220<li>V->A at 873, MIM: 257220<li>D->V at 874: in NPC1, MIM: 257220<li>P->S at 888: in NPC1, MIM: 257220<li>V->M at 889: in NPC1; adult form, MIM: 257220<li>Y->C at 890: in NPC1, MIM: 257220<li>Y->D at 899: in NPC1, MIM: 257220<li>G->S at 910: in NPC1: in dbSNP rsrs34302553, MIM: 257220<li>D->Y at 917: in NPC1, MIM: 257220<li>A->T at 926: in NPC1, MIM: 257220<li>A->V at 927: in NPC1, MIM: 257220<li>Q->P at 928: in NPC1; dbSNP:rs28940897, MIM: 257220<li>L->P at 929: in NPC1, MIM: 257220<li>R->Q at 934: in NPC1, MIM: 257220<li>S->L at 940: in NPC1, MIM: 257220<li>W->C at 942: in NPC1, MIM: 257220<li>I->M at 943: in NPC1, MIM: 257220<li>D->N at 944: in NPC1, MIM: 257220<li>D->N at 945: in NPC1, MIM: 257220<li>D->H at 948: in NPC1, MIM: 257220<li>D->N at 948: in NPC1, MIM: 257220<li>D->Y at 948: in NPC1, MIM: 257220<li>V->M at 950: in NPC1; adult form, MIM: 257220<li>S->L at 954: in NPC1, MIM: 257220<li>C->Y at 956: in NPC1; late infantile form, MIM: 257220<li>R->L at 958: in NPC1, MIM: 257220<li>R->Q at 958: in NPC1, MIM: 257220<li>V->E at 959: in NPC1, MIM: 257220<li>NITDQF->S at 961-966: in NPC1, MIM: 257220<li>N->S at 961: in NPC1; dbSNP:rs34084984, MIM: 257220<li>N->S at 968: in NPC1, MIM: 257220<li>V->G at 971, MIM: 257220<li>C->R at 976: in NPC1, MIM: 257220<li>R->C at 978: in NPC1; dbSNP:rs28942108, MIM: 257220<li>G->S at 986: in NPC1, MIM: 257220<li>G->A at 992: in NPC1, MIM: 257220<li>G->R at 992: in NPC1, MIM: 257220<li>G->W at 992: in NPD and NPC1, MIM: 257220<li>M->R at 996: in NPC1, MIM: 257220<li>S->L at 1004: in NPC1, MIM: 257220<li>P->A at 1007: in NPC1, MIM: 257220<li>G->D at 1012: in NPC1, MIM: 257220<li>G->V at 1015: in NPC1, MIM: 257220<li>H->R at 1016: in NPC1, MIM: 257220<li>V->G at 1023: in NPC1, MIM: 257220<li>G->R at 1034: in NPC1, MIM: 257220<li>A->V at 1035: in NPC1: in dbSNP rsrs28942107, MIM: 257220<li>T->K at 1036: in NPC1, MIM: 257220<li>T->M at 1036: in NPC1: in dbSNP rsrs28942104, MIM: 257220<li>A->V at 1049, MIM: 257220<li>A->T at 1054: in NPC1, MIM: 257220<li>R->Q at 1059: in NPC1, MIM: 257220<li>I->T at 1061: in NPC1; late infantile form, MIM: 257220<li>A->V at 1062: in NPC1, MIM: 257220<li>T->N at 1066: in NPC1, MIM: 257220<li>F->L at 1087: in NPC1, MIM: 257220<li>Y->C at 1088: in NPC1; juvenile form; dbSNP:rs28942106, MIM: 257220<li>E->K at 1089: in NPC1, MIM: 257220<li>I->T at 1094: in NPC1, MIM: 257220<li>D->N at 1097: in NPC1, MIM: 257220<li>N->I at 1137: in NPC1, MIM: 257220<li>G->V at 1140: in NPC1, MIM: 257220<li>M->T at 1142: in NPC1, MIM: 257220<li>N->K at 1150: in NPC1, MIM: 257220<li>N->I at 1156: in NPC1; dbSNP:rs28942105, MIM: 257220<li>N->S at 1156: in NPC1: in dbSNP rsrs28942105, MIM: 257220<li>V->M at 1165: in NPC1, MIM: 257220<li>F->L at 1167: in NPC1, MIM: 257220<li>C->Y at 1168: in NPC1, MIM: 257220<li>A->V at 1174: in NPC1, MIM: 257220<li>R->H at 1186: in NPC1, MIM: 257220<li>E->G at 1189: in NPC1, MIM: 257220<li>T->K at 1205: in NPC1, MIM: 257220<li>T->R at 1205: in NPC1, MIM: 257220<li>V->L at 1212: in NPC1, MIM: 257220<li>L->F at 1213: in NPC1; juvenile form, MIM: 257220<li>L->V at 1213: in NPC1, MIM: 257220<li>A->V at 1216: in NPC1, MIM: 257220<li>I->T at 1220, MIM: 257220<li>F->L at 1224: in NPC1, MIM: 257220<li>G->E at 1236: in NPC1, MIM: 257220<li>G->R at 1240: in NPC1, MIM: 257220<li>S->G at 1249: in NPC1, MIM: 257220<li>R->Q at 1266: common polymorphism in Japanese; dbSNP:rs1805084, MIM: 257220</ul>					<li>late endosomes</li><li>endoplasmic reticulum</li><li>cell surface</li><li>endosomes</li>	<li>GO:0005770</li><li>GO:0005783</li><li>GO:0009928,GO:0009986</li><li>GO:0005768</li>	<li>P51150</li><li>P36411</li><li>O15118</li><li>P09527</li><li>P56941</li>	<li>Niemann-Pick disease type C1 (NPC1) [MIM:257220]</li><li>Niemann-Pick disease type D (NPD) [MIM:257220]</li>	<li>rs28942104</li><li>rs28942106</li><li>rs28942105</li><li>rs1805081</li><li>rs1805082</li><li>rs1805084</li><li>rs17855819</li><li>rs28942108</li><li>rs28942107</li><li>rs1788799</li><li>rs55680026</li><li>rs28940897</li><li>rs34302553</li><li>rs13381670</li><li>rs34084984</li>	2
O15119	6926	<ul><li>L->P at 143: in UMS, MIM: 181450<li>Y->S at 149: in UMS, MIM: 181450</ul>								Ulnar-mammary syndrome (UMS) [MIM:181450]		2
O15120	10555	<ul><li>G->R at 136: in CGL1, MIM: 608594<li>Missing  at 140: in CGL1, MIM: 608594<li>L->P at 228: in CGL1, MIM: 608594<li>A->V at 239: in CGL1, MIM: 608594</ul>							P10144	Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]		2
O15123	285	<ul><li>V->I at 333: in dbSNP:rs7813215</ul>									rs7813215	2
O15130	8620	<ul><li>W->R at 88: in dbSNP:rs35822762</ul>									rs35822762	2
O15131	3841	<ul><li>F->L at 45: in a breast cancer sample; somatic mutation<li>R->S at 316: in a breast cancer sample; somatic mutation</ul>										2
O15143	10095	<ul><li>K->N at 37: in dbSNP:rs1045012</ul>									rs1045012	2
O15146	4593	<ul><li>A->G at 27: in dbSNP rsrs56054734<li>T->M at 100: in dbSNP rsrs35142681<li>G->E at 107: in dbSNP rsrs55786136<li>S->G at 159: in dbSNP:rs35176182<li>N->S at 222: in dbSNP rsrs55826142<li>M->I at 413: in dbSNP:rs2274419<li>L->F at 629: in dbSNP rsrs34267283<li>V->A at 644: in dbSNP rsrs41279055<li>N->S at 664: in dbSNP rsrs55963442<li>P->L at 696: in dbSNP rsrs56126328<li>E->D at 782: in dbSNP rsrs34614566<li>V->M at 790: in a case of congenital myasthenic syndrome; does not affect catalytic kinase activity; reduces protein expression and stability<li>N->S at 819: in a lung neuroendocrine carcinoma sample; somatic mutation<li>V->L at 829: in dbSNP:rs578430<li>R->H at 858: in dbSNP rsrs34115159</ul>			kinase activity	GO:0016301					<li>rs2274419</li><li>rs56054734</li><li>rs55786136</li><li>rs34267283</li><li>rs578430</li><li>rs35142681</li><li>rs35176182</li><li>rs56126328</li><li>rs34614566</li><li>rs41279055</li><li>rs34115159</li><li>rs55963442</li><li>rs55826142</li>	2
O15151	4194	<ul><li>I->T at 175: in dbSNP:rs4252716<li>T->I at 406: in dbSNP:rs4252741</ul>									<li>rs4252716</li><li>rs4252741</li>	2
O15162	5359	<ul><li>H->Y at 262: in dbSNP:rs343320</ul>									rs343320	2
O15164	8805	<ul><li>I->T at 320: in an ovarian serous carcinoma sample; somatic mutation<li>T->N at 403: in a lung squamous cell carcinoma sample; somatic mutation<li>S->N at 762: in dbSNP rsrs35356723<li>N->S at 796: in dbSNP:rs35356723<li>R->S at 1009: in dbSNP rsrs34585297</ul>									<li>rs35356723</li><li>rs34585297</li>	2
O15169	8312	<ul><li>L->R at 106: in HCC, MIM: 114550<li>P->L at 345: in HCC, MIM: 114550<li>G->S at 425: in HCC, MIM: 114550<li>G->S at 650: in HCC and in hepatoblastoma, MIM: 114550<li>R->Q at 841: in hepatoblastoma: in dbSNP rsrs34015754, MIM: 114550</ul>							<li>Q8T115</li><li>Q9NFL6</li>	Hepatocellular carcinoma (HCC) [MIM:114550]	rs34015754	2
O15178	6862	<ul><li>G->D at 177: in dbSNP:rs2305089<li>G->S at 356: in dbSNP:rs3127328<li>V->M at 367: in dbSNP:rs35292451<li>N->S at 369: in dbSNP:rs3816300<li>E->K at 402: in dbSNP:rs34517945</ul>									<li>rs35292451</li><li>rs3127328</li><li>rs3816300</li><li>rs34517945</li><li>rs2305089</li>	2
O15182	1070	<ul><li>V->L at 10: in dbSNP:rs4873</ul>									rs4873	2
O15194	10217	<ul><li>S->P at 121<li>N->S at 127<li>V->G at 132</ul>										2
O15195	50853	<ul><li>F->L at 610: in dbSNP:rs1892814<li>L->F at 740: in dbSNP:rs9816693</ul>									<li>rs1892814</li><li>rs9816693</li>	2
O15197	2051	<ul><li>G->S at 122: in dbSNP:rs8177173<li>S->T at 170<li>A->V at 221<li>P->H at 282<li>P->R at 282: in dbSNP:rs8177143<li>R->Q at 309<li>S->A at 324: in dbSNP:rs8177146<li>S->L at 332<li>D->N at 360: in a colorectal cancer sample; somatic mutation<li>R->Q at 499: in dbSNP:rs8177175<li>A->P at 603: in a colorectal cancer sample; somatic mutation<li>A->V at 662<li>R->Q at 719: in a colorectal cancer sample; somatic mutation<li>P->S at 743: in an ovarian mucinous carcinoma sample; somatic mutation<li>R->H at 813<li>E->K at 875: in a glioblastoma multiforme sample; somatic mutation<li>D->G at 930: in a colorectal cancer sample; somatic mutation<li>I->V at 993</ul>									<li>rs8177143</li><li>rs8177146</li><li>rs8177175</li><li>rs8177173</li>	2
O15204	27299	<ul><li>M->T at 121: in dbSNP:rs7007084<li>N->S at 444: in dbSNP:rs3765124</ul>									<li>rs3765124</li><li>rs7007084</li>	2
O15205	10537	<ul><li>L->S at 51: in dbSNP:rs2076484<li>I->T at 68: in dbSNP:rs2076485<li>S->P at 95: in dbSNP:rs2076486<li>A->G at 99: in dbSNP:rs2076487<li>E->K at 120: in dbSNP:rs17184290<li>S->C at 160: in dbSNP:rs8337<li>C->F at 162: in dbSNP:rs7757931</ul>									<li>rs17184290</li><li>rs8337</li><li>rs7757931</li><li>rs2076485</li><li>rs2076484</li><li>rs2076487</li><li>rs2076486</li>	2
O15209	9278	<ul><li>T->A at 310: in dbSNP rsrs3130100</ul>									rs3130100	2
O15211	5863	<ul><li>P->L at 598: in dbSNP:rs34022110<li>G->E at 705: in dbSNP:rs35273540</ul>									<li>rs35273540</li><li>rs34022110</li>	2
O15213	9277	<ul><li>A->T at 94: in dbSNP:rs3130257<li>S->Y at 124: in dbSNP:rs34704405<li>V->A at 341: in dbSNP:rs14398</ul>									<li>rs14398</li><li>rs34704405</li><li>rs3130257</li>	2
O15217	2941	<ul><li>L->P at 100: in dbSNP rsrs45551133<li>T->A at 163: in dbSNP:rs4147617</ul>									<li>rs4147617</li><li>rs45551133</li>	2
O15218	11318	<ul><li>C->R at 349: in dbSNP:rs35493121</ul>									rs35493121	2
O15228	8443	<ul><li>R->C at 211: in RCDP2: in dbSNP rsrs28939697, MIM: 222765<li>R->H at 211: in RCDP2; complete loss of activity: in dbSNP rsrs28939696, MIM: 222765<li>V->I at 495: in dbSNP:rs11122266, MIM: 222765<li>D->G at 519: in RCDP2; 70% reduction in activity; dbSNP:rs11558492, MIM: 222765<li>Y->H at 586: in dbSNP:rs17849315, MIM: 222765</ul>								Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	<li>rs17849315</li><li>rs28939696</li><li>rs11558492</li><li>rs28939697</li><li>rs11122266</li>	2
O15229	8564	<ul><li>R->C at 452: in dbSNP:rs1053230</ul>									rs1053230	2
O15230	3911	<ul><li>T->A at 401: in dbSNP:rs4925229<li>V->M at 889: in dbSNP:rs6062223<li>M->T at 1258: in dbSNP:rs3810548<li>K->E at 1367: in dbSNP:rs2427286<li>G->A at 1434: in dbSNP:rs17750870<li>R->W at 1667: in dbSNP:rs13039398<li>T->M at 1671: in dbSNP:rs944893<li>H->Y at 1717: in dbSNP:rs875379<li>F->S at 1807: in dbSNP:rs2427284<li>M->V at 1900: in dbSNP:rs2427283<li>A->T at 1908: in dbSNP:rs11698080<li>H->R at 2036: in dbSNP:rs6143021<li>R->H at 2053: in dbSNP:rs3737137<li>D->N at 2062: in dbSNP:rs2274934<li>R->H at 2226: in dbSNP:rs2297587<li>W->R at 3079: in dbSNP:rs944895</ul>									<li>rs2274934</li><li>rs2427283</li><li>rs944895</li><li>rs2427284</li><li>rs13039398</li><li>rs944893</li><li>rs11698080</li><li>rs2427286</li><li>rs4925229</li><li>rs6062223</li><li>rs17750870</li><li>rs875379</li><li>rs3737137</li><li>rs6143021</li><li>rs2297587</li><li>rs3810548</li>	2
O15232	4148	<ul><li>P->S at 11<li>R->H at 70: in EDM5, MIM: 607078<li>F->S at 105: in EDM5, MIM: 607078<li>T->M at 120: in EDM5; retained and accumulates within the cell, MIM: 607078<li>R->W at 121: in EDM5; retained and accumulates within the cell, MIM: 607078<li>A->P at 128: in EDM5; bilateral hereditary microepiphyseal dysplasia, MIM: 607078<li>E->K at 134: in EDM5; retained and accumulates within the cell, MIM: 607078<li>I->N at 192: in EDM5; retained and accumulates within the cell, MIM: 607078<li>V->D at 194: in EDM5; retained and accumulates within the cell, MIM: 607078<li>T->K at 195: in EDM5, MIM: 607078<li>Y->N at 218: in EDM5, MIM: 607078<li>A->D at 219: in EDM5; retained and accumulates within the cell; dbSNP:rs28939677, MIM: 607078<li>E->K at 252: secreted normally as the wild-type; dbSNP:rs52826764, MIM: 607078<li>T->M at 303: associated with OS2; may influence the phenotype severity in a multiple epiphyseal dysplasia patient carrying M-120: in dbSNP rsrs28939676, MIM: 607078<li>C->S at 304: in SEMD bowed-legs type, MIM: 608728</ul>								<li>Spondyloepimetaphyseal dysplasia bowed-legs type (SEMD bowed-legs type) [MIM:608728]</li><li>Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]</li>	<li>rs52826764</li><li>rs28939677</li><li>rs28939676</li>	2
O15235	6183	<ul><li>H->R at 8: in dbSNP:rs33988199</ul>									rs33988199	2
O15239	4694	<ul><li>G->R at 8: in MELAS<li>G->R at 32: in dbSNP:rs1801316<li>R->S at 37: in MELAS<li>R->C at 53: in a colorectal cancer sample; somatic mutation</ul>									rs1801316	2
O15244	6582	<ul><li>P->S at 54: in dbSNP:rs8177504<li>M->I at 165: lower Vmax<li>T->M at 201<li>A->S at 270: increased Ki value for TBA inhibition of MPP; dbSNP:rs316019<li>A->G at 297: in dbSNP:rs8177513<li>R->C at 400: lower Vmax and reduced Ki value for TBA inhibition of MPP; dbSNP:rs8177516<li>K->Q at 432: lower Km value for MPP and reduced Ki value for TBA inhibition of MPP; dbSNP:rs8177517<li>R->K at 463: in dbSNP:rs3907239</ul>							<li>Q6WEB5</li><li>Q9FT36</li><li>P10522</li><li>P37301</li><li>P27573</li><li>P06907</li><li>P29677</li><li>P25189</li><li>P20938</li>		<li>rs8177513</li><li>rs8177504</li><li>rs8177517</li><li>rs8177516</li><li>rs316019</li><li>rs3907239</li>	2
O15245	6580	<ul><li>S->F at 14: exclusively found in the African American population; increase of the MPP uptake; when associated with V-408; dbSNP:rs34447885<li>F->L at 41: in dbSNP:rs2297373<li>R->C at 61: reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408; dbSNP:rs12208357<li>L->F at 85: no changes in the MPP uptake; when associated with V-408; dbSNP:rs35546288<li>C->R at 88: no MPP uptake. Reduction of the serotonin uptake: in dbSNP rsrs55918055<li>F->L at 160: no changes in both TEA and MPP uptake. No MPP uptake; when associated with S-401. Largely localized in the plasma membrane; dbSNP:rs683369<li>S->L at 189: no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408: in dbSNP rsrs34104736<li>G->V at 220: no MPP uptake. Reduction of the MPP uptake; when associated with V-408: in dbSNP rsrs36103319<li>P->L at 283: only found in Japanese population. No uptake of both TEA and MPP. Largely localized in the plasma membrane: in dbSNP rsrs4646277<li>R->G at 287: only found in Japanese population. No uptake of both TEA and MPP. Largely localized in the plasma membrane: in dbSNP rsrs4646278<li>P->L at 341: reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408. Partly reduction of TEA uptake. Largely localized in the plasma membrane; dbSNP:rs2282143<li>R->H at 342: no changes in the MPP uptake; when associated with V-408; dbSNP:rs34205214<li>G->S at 401: no MPP uptake. Reduction of the serotonin uptake. No MPP uptake; when associated with L-160; dbSNP:rs34130495<li>M->V at 408: no changes in the MPP uptake. No changes in the MPP uptake; when associated with F-14. No changes in the MPP uptake; when associated with F-85. No changes in the MPP uptake; when associated with L-189. No changes in the MPP uptake; when associated with His-342. No changes in the MPP uptake; when associated with M-420 del. No changes in the MPP uptake; when associated with I-440. No changes in the MPP uptake; when associated with I-461. No changes in the MPP uptake; when associated with M-488. Reduction of the MPP uptake; when associated with C-61. No MPP uptake; when associated with V-220. Reduction of the MPP uptake; when associated with L-341. No MPP uptake; when associated with S-401. No MPP uptake; when associated with R-465; dbSNP:rs628031<li>Missing  at 420: no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408: in dbSNP rsrs34305973,rs35167514,rs35191146<li>M->I at 440: no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408: in dbSNP rsrs35956182<li>V->I at 461: no changes in the MPP uptake; when associated with V-408; dbSNP:rs34295611<li>G->R at 465: reduction of the localization to the basolateral membrane. No MPP uptake; when associated with V-408; dbSNP:rs34059508<li>R->M at 488: no changes in the MPP uptake; when associated with V-408; dbSNP:rs35270274</ul>	localization	GO:0051179			<li>membrane</li><li>plasma membrane</li>	<li>GO:0016020</li><li>GO:0005886</li>	<li>Q6WEB5</li><li>P10522</li><li>P37301</li><li>P27573</li><li>P06907</li><li>P29677</li><li>P25189</li><li>P20938</li>		<li>rs34295611</li><li>rs12208357</li><li>rs683369</li><li>rs34104736</li><li>rs34205214</li><li>rs34059508</li><li>rs34305973</li><li>rs4646278</li><li>rs35956182</li><li>rs4646277</li><li>rs2297373</li><li>rs55918055</li><li>rs35546288</li><li>rs36103319</li><li>rs35167514</li><li>rs35191146</li><li>rs2282143</li><li>rs34447885</li><li>rs34130495</li><li>rs628031</li><li>rs35270274</li>	2
O15254	8310	<ul><li>E->A at 34: in dbSNP:rs12513296<li>D->N at 497: in dbSNP:rs13434465</ul>									<li>rs12513296</li><li>rs13434465</li>	2
O15255	8933	<ul><li>S->W at 152: in dbSNP:rs5930670</ul>									rs5930670	2
O15259	4867	<ul><li>G->R at 342: in NPHP1; associated with Cogan-type congenital ocular motor apraxia, MIM: 256100</ul>							<li>O15259</li><li>Q9TU19</li>	Nephronophthisis type 1 (NPHP1) [MIM:256100]		2
O15264	5603	<ul><li>S->L at 41: in dbSNP rsrs55776345<li>A->V at 282: in dbSNP rsrs55990045<li>A->T at 300: in dbSNP rsrs41270090</ul>									<li>rs55776345</li><li>rs41270090</li><li>rs55990045</li>	2
O15265	6314	<ul><li>K->R at 264: in dbSNP:rs1053338<li>I->V at 573: in dbSNP:rs3733124<li>P->S at 663: in dbSNP:rs1053340<li>V->M at 862: in dbSNP:rs3774729</ul>									<li>rs1053338</li><li>rs3774729</li><li>rs3733124</li><li>rs1053340</li>	2
O15266	6473	<ul><li>L->V at 132: in LWD, MIM: 127300<li>R->L at 153: in LWD, MIM: 127300<li>R->W at 168: in LMD, MIM: 249700<li>R->C at 173: in LWD, MIM: 127300</ul>								<li>Leri-Weill dyschondrosteosis (LWD) [MIM:127300]</li><li>Langer mesomelic dysplasia (LMD) [MIM:249700]</li>		2
O15269	10558	<ul><li>C->W at 133: in HSAN1, MIM: 162400<li>C->Y at 133: in HSAN1, MIM: 162400<li>V->D at 144: in HSAN1, MIM: 162400<li>R->L at 151: in dbSNP:rs45461899, MIM: 162400<li>R->W at 239: in a breast cancer sample; somatic mutation, MIM: 162400<li>G->A at 387: in HSAN1, MIM: 162400</ul>								Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	rs45461899	2
O15273	8557	<ul><li>Missing  at 13: rare polymorphism; could be asssociated with CMD1N<li>R->W at 70: in CMD1N, MIM: 607487<li>L->H at 74: in dbSNP:rs17851031, MIM: 607487<li>R->Q at 87: in CMD1N, MIM: 607487<li>P->L at 90: in CMD1N, MIM: 607487<li>R->C at 106: in dbSNP:rs45578741, MIM: 607487<li>E->Q at 132: in CMD1N; impairs the interaction with MLP, TTN and MYOZ2, MIM: 607487<li>T->I at 137: in CMH; augments the ability to imteract with TTN and MYOZ2, MIM: 192600<li>R->H at 153: in CMH, MIM: 192600</ul>							<li>P98089</li><li>P11030</li><li>Q5E9V3</li><li>P56924</li><li>P50461</li><li>Q5R6I2</li><li>Q8WZ42</li><li>Q9NPC6</li><li>P35566</li><li>P49006</li>	<li>Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]</li><li>Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]</li>	<li>rs45578741</li><li>rs17851031</li>	2
O15287	2189	<ul><li>L->P at 71: in FA; associated with a mild clinical phenotype, MIM: 227650<li>G->E at 294: in dbSNP:rs17880082, MIM: 227650<li>T->I at 297: in dbSNP:rs2237857, MIM: 227650<li>P->S at 330: in dbSNP:rs4986940, MIM: 227650<li>S->L at 378: in dbSNP:rs4986939, MIM: 227650<li>K->E at 430: in dbSNP:rs17881054, MIM: 227650<li>R->Q at 513: in dbSNP:rs17885240, MIM: 227650<li>S->F at 603: in dbSNP:rs17878854, MIM: 227650<li>A->T at 607: in a colorectal cancer sample; somatic mutation, MIM: 227650</ul>								Fanconi anemia (FA) [MIM:227650]	<li>rs17881054</li><li>rs17878854</li><li>rs2237857</li><li>rs17880082</li><li>rs4986939</li><li>rs17885240</li><li>rs4986940</li>	2
O15296	247	<ul><li>I->V at 647: in dbSNP:rs7225107<li>R->Q at 656: in dbSNP:rs4792147<li>I->V at 676: in dbSNP:rs7225107</ul>									<li>rs7225107</li><li>rs4792147</li>	2
O15303		<ul><li>G->S at 150: in CSNB1B, MIM: 257270<li>S->F at 191: in a breast cancer sample; somatic mutation, MIM: 257270<li>E->K at 781: in CSNB1B, MIM: 257270</ul>								Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]		2
O15305	5373	<ul><li>C->Y at 9: in CDG1A, MIM: 212065<li>F->C at 11: in CDG1A, MIM: 212065<li>G->E at 15: in CDG1A, MIM: 212065<li>P->S at 20: in CDG1A; reduction of activity, MIM: 212065<li>L->R at 32: in CDG1A, MIM: 212065<li>Q->H at 37: in CDG1A; partial loss of activity, MIM: 212065<li>Q->L at 37: in dbSNP:rs2304472, MIM: 212065<li>G->R at 42, MIM: 212065<li>V->A at 44: in CDG1A, MIM: 212065<li>V->L at 44: in CDG1A, MIM: 212065<li>Y->C at 64: in CDG1A, MIM: 212065<li>D->Y at 65: in CDG1A, MIM: 212065<li>V->M at 67: in CDG1A, MIM: 212065<li>P->S at 69: in CDG1A, MIM: 212065<li>Y->C at 76: in CDG1A, MIM: 212065<li>E->A at 93: in CDG1A, MIM: 212065<li>N->K at 101: in CDG1A, MIM: 212065<li>C->F at 103: in CDG1A, MIM: 212065<li>L->V at 104: in CDG1A, MIM: 212065<li>Y->C at 106: in CDG1A, MIM: 212065<li>A->V at 108: in CDG1A, MIM: 212065<li>P->L at 113: in CDG1A, MIM: 212065<li>G->R at 117: in CDG1A; loss of activity, MIM: 212065<li>F->L at 119: in CDG1A; partial loss of activity, MIM: 212065<li>I->T at 120: in CDG1A, MIM: 212065<li>R->Q at 123: in CDG1A, MIM: 212065<li>V->M at 129: in CDG1A: in dbSNP rsrs28938475, MIM: 212065<li>P->A at 131: in CDG1A, MIM: 212065<li>I->F at 132: in CDG1A; slightly reduced activity, MIM: 212065<li>I->N at 132: in CDG1A, MIM: 212065<li>I->T at 132: in CDG1A, MIM: 212065<li>E->K at 139: in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity, MIM: 212065<li>R->C at 141: in CDG1A; loss of activity, MIM: 212065<li>R->H at 141: in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life: in dbSNP rsrs28936415, MIM: 212065<li>F->L at 144: in CDG1A, MIM: 212065<li>D->N at 148: in CDG1A, MIM: 212065<li>E->G at 151: in CDG1A, MIM: 212065<li>I->T at 153: in CDG1A, MIM: 212065<li>F->S at 157: in CDG1A, MIM: 212065<li>R->W at 162: in CDG1A, MIM: 212065<li>F->V at 172: in CDG1A, MIM: 212065<li>G->R at 175: in CDG1A, MIM: 212065<li>G->V at 176: in CDG1A; loss of activity, MIM: 212065<li>Q->H at 177: in CDG1A; partial loss of activity, MIM: 212065<li>F->S at 183: in CDG1A, MIM: 212065<li>D->G at 185: in CDG1A, MIM: 212065<li>D->G at 188: in CDG1A; severe, MIM: 212065<li>C->G at 192: in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate, MIM: 212065<li>H->R at 195: in CDG1A, MIM: 212065<li>E->A at 197: in CDG1A; dbSNP:rs34258285, MIM: 212065<li>F->S at 206: in CDG1A, MIM: 212065<li>G->A at 208: in CDG1A, MIM: 212065<li>M->V at 212: in dbSNP:rs3743808, MIM: 212065<li>G->S at 214: in CDG1A, MIM: 212065<li>N->I at 216: in CDG1A, MIM: 212065<li>N->S at 216: in CDG1A, MIM: 212065<li>D->E at 217: in CDG1A, MIM: 212065<li>H->L at 218: in CDG1A, MIM: 212065<li>D->E at 223: in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate, MIM: 212065<li>D->N at 223: in CDG1A, MIM: 212065<li>T->S at 226: in CDG1A, MIM: 212065<li>G->C at 228: in CDG1A, MIM: 212065<li>G->R at 228: in CDG1A, MIM: 212065<li>Y->S at 229: in CDG1A, MIM: 212065<li>V->M at 231: in CDG1A, MIM: 212065<li>A->T at 233: in CDG1A; could be a rare polymorphism, MIM: 212065<li>T->M at 237: in CDG1A, MIM: 212065<li>T->R at 237: in CDG1A; loss of activity, MIM: 212065<li>R->G at 238: in CDG1A, MIM: 212065<li>R->P at 238: in CDG1A, MIM: 212065<li>C->S at 241: in CDG1A, MIM: 212065</ul>							<li>P35823</li><li>P07394</li><li>P98005</li><li>P03161</li><li>P15966</li><li>P03632</li><li>P25244</li><li>P25243</li><li>P03631</li><li>P03610</li>	Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	<li>rs28936415</li><li>rs3743808</li><li>rs2304472</li><li>rs34258285</li><li>rs28938475</li>	2
O15315	5890	<ul><li>V->M at 9: in dbSNP:rs34583846<li>F->C at 82: in dbSNP:rs35282642<li>L->W at 172: in dbSNP:rs34094401<li>Y->C at 180: in dbSNP:rs28910275<li>V->L at 207: in dbSNP:rs28908168<li>K->R at 243: in dbSNP:rs34594234<li>S->A at 250: in dbSNP:rs33929366<li>P->R at 365: in dbSNP:rs28908468</ul>									<li>rs34094401</li><li>rs33929366</li><li>rs34594234</li><li>rs28908168</li><li>rs28910275</li><li>rs28908468</li><li>rs34583846</li><li>rs35282642</li>	2
O15320	4253	<ul><li>A->V at 6: in dbSNP:rs7140561<li>Y->D at 11: in dbSNP:rs17855895<li>K->N at 205: in dbSNP:rs17855896<li>K->E at 250: in dbSNP:rs10162564<li>E->Q at 360: in dbSNP:rs1950952<li>N->S at 375: in dbSNP:rs17109109<li>I->V at 699: in dbSNP:rs1140952<li>G->R at 738: in dbSNP:rs1060878</ul>									<li>rs1060878</li><li>rs17109109</li><li>rs17855895</li><li>rs7140561</li><li>rs17855896</li><li>rs10162564</li><li>rs1140952</li><li>rs1950952</li>	2
O15321	10548	<ul><li>L->M at 18: in dbSNP:rs11549700<li>R->H at 215: in dbSNP:rs10583</ul>									<li>rs10583</li><li>rs11549700</li>	2
O15327	8821	<ul><li>Y->F at 311: in dbSNP:rs1064226</ul>									rs1064226	2
O15335	1101	<ul><li>R->Q at 312: in dbSNP:rs35218093<li>T->I at 350: in dbSNP:rs2231510</ul>									<li>rs35218093</li><li>rs2231510</li>	2
O15344	4281	<ul><li>C->R at 266: in OS-I, MIM: 300000<li>L->P at 295: in OS-I, MIM: 300000<li>LC->R at 391-392: in OS-I, MIM: 300000<li>Missing  at 438: in OS-I, MIM: 300000<li>V->VFIDSGRHL at 534: in OS-I, MIM: 300000<li>I->T at 536: in OS-I, MIM: 300000<li>L->P at 626: in OS-I: in dbSNP rsrs28934611, MIM: 300000</ul>								Opitz syndrome type I (OS-I) [MIM:300000]	rs28934611	2
O15347	3149	<ul><li>T->A at 51: in dbSNP:rs16995792</ul>									rs16995792	2
O15353	8456	<ul><li>R->C at 69: in dbSNP:rs2071587<li>A->V at 283<li>R->W at 411: in dbSNP:rs2286520<li>A->P at 599: in dbSNP:rs532648</ul>									<li>rs2071587</li><li>rs2286520</li><li>rs532648</li>	2
O15357	3636	<ul><li>L->I at 632: associated with susceptibility to NIDDM<li>V->M at 721<li>N->S at 982: associated with susceptibility to NIDDM<li>A->G at 1083: in dbSNP:rs11548491<li>G->A at 1114: in dbSNP:rs1049472</ul>									<li>rs11548491</li><li>rs1049472</li>	2
O15360	2175	<ul><li>V->D at 6: in dbSNP:rs1800282<li>N->K at 8: in FA; could be a polymorphism, MIM: 227650<li>T->S at 131: in dbSNP:rs34491278, MIM: 227650<li>S->F at 176: in dbSNP:rs35566151, MIM: 227650<li>A->V at 181: in FA; dbSNP:rs17232246, MIM: 227650<li>L->R at 210: in FA, MIM: 227650<li>L->F at 244: in FA, MIM: 227650<li>D->G at 252: in FA; dbSNP:rs17225943, MIM: 227650<li>T->A at 266: in dbSNP:rs7190823, MIM: 227650<li>A->G at 277: in dbSNP:rs35880318, MIM: 227650<li>Q->R at 286: in dbSNP:rs13336566, MIM: 227650<li>A->V at 412: in dbSNP:rs11646374, MIM: 227650<li>R->C at 435: in FA, MIM: 227650<li>H->R at 492: in FA, MIM: 227650<li>G->S at 501: common polymorphism; dbSNP:rs2239359, MIM: 227650<li>D->N at 598: in FA, MIM: 227650<li>P->A at 643: in dbSNP:rs17232910, MIM: 227650<li>L->P at 660: in FA, MIM: 227650<li>P->L at 739: in dbSNP rsrs45441106, MIM: 227650<li>V->E at 761, MIM: 227650<li>G->D at 809: common polymorphism; dbSNP:rs7195066, MIM: 227650<li>L->P at 817: in FA, MIM: 227650<li>Y->D at 843: in FA, MIM: 227650<li>L->P at 845: in FA, MIM: 227650<li>S->R at 858: in FA; dbSNP:rs17233141, MIM: 227650<li>Q->P at 869: in FA, MIM: 227650<li>R->Q at 951, MIM: 227650<li>R->W at 951, MIM: 227650<li>R->L at 1055: in FA, MIM: 227650<li>R->W at 1055: in FA, MIM: 227650<li>L->P at 1082: in FA, MIM: 227650<li>S->F at 1088: in FA; dbSNP:rs17233497, MIM: 227650<li>H->P at 1110: in FA; loss of function, MIM: 227650<li>R->G at 1117: in FA; loss of function, MIM: 227650<li>Q->E at 1128: in FA, MIM: 227650<li>T->A at 1131: in FA, MIM: 227650<li>L->P at 1249: in FA; possibly hypomorphic allele, MIM: 227650<li>F->L at 1262: in FA, MIM: 227650<li>Missing  at 1263: in FA, MIM: 227650<li>V->I at 1287: in dbSNP:rs34360319, MIM: 227650<li>W->R at 1302: in FA, MIM: 227650<li>P->L at 1324: in FA, MIM: 227650<li>T->A at 1328: in dbSNP:rs9282681, MIM: 227650<li>A->T at 1346: in FA; uncertain pathological significance: in dbSNP rsrs17227396, MIM: 227650<li>D->Y at 1359: in FA, MIM: 227650<li>M->I at 1360: in FA, MIM: 227650<li>R->H at 1400: in FA; possibly hypomorphic allele, MIM: 227650<li>H->D at 1417: in FA; dbSNP:rs17227403, MIM: 227650</ul>								Fanconi anemia (FA) [MIM:227650]	<li>rs17233497</li><li>rs13336566</li><li>rs35566151</li><li>rs9282681</li><li>rs7190823</li><li>rs35880318</li><li>rs17232910</li><li>rs2239359</li><li>rs17233141</li><li>rs45441106</li><li>rs11646374</li><li>rs7195066</li><li>rs17227396</li><li>rs17232246</li><li>rs17225943</li><li>rs17227403</li><li>rs1800282</li><li>rs34491278</li><li>rs34360319</li>	2
O15374	9122	<ul><li>A->T at 185: in dbSNP:rs35157487<li>N->H at 264: in dbSNP:rs2271885</ul>									<li>rs35157487</li><li>rs2271885</li>	2
O15379	8841	<ul><li>N->S at 411: in dbSNP:rs34901743</ul>									rs34901743	2
O15381	4931	<ul><li>V->I at 295: in dbSNP:rs12084919<li>C->G at 359<li>V->I at 404: in dbSNP:rs34631151</ul>									<li>rs34631151</li><li>rs12084919</li>	2
O15382	587	<ul><li>T->R at 186: in dbSNP:rs11548193</ul>									rs11548193	2
O15389	8778	<ul><li>V->A at 72: in dbSNP:rs1973019<li>M->V at 215: in dbSNP:rs1807124<li>F->S at 322: in dbSNP:rs2278831<li>R->W at 358: in dbSNP:rs8108074<li>P->A at 499: in dbSNP:rs3829655</ul>									<li>rs2278831</li><li>rs8108074</li><li>rs1807124</li><li>rs1973019</li><li>rs3829655</li>	2
O15391	404281	<ul><li>D->N at 103: in a breast cancer sample; somatic mutation</ul>										2
O15392	332	<ul><li>E->K at 129: in dbSNP:rs2071214</ul>									rs2071214	2
O15393	7113	<ul><li>V->M at 160: in dbSNP:rs12329760<li>S->C at 254<li>E->Q at 329<li>K->N at 449: in dbSNP:rs1056602<li>D->N at 491</ul>									<li>rs1056602</li><li>rs12329760</li>	2
O15394	4685	<ul><li>D->N at 347: in dbSNP:rs35654962<li>L->P at 350: in dbSNP:rs232518</ul>									<li>rs232518</li><li>rs35654962</li>	2
O15399	2906	<ul><li>P->S at 140: in a breast cancer sample; somatic mutation<li>G->R at 286: in a breast cancer sample; somatic mutation<li>E->G at 527: in a breast cancer sample; somatic mutation</ul>										2
O15403	9120	<ul><li>I->T at 121: in dbSNP:rs35397826<li>F->I at 204: in dbSNP:rs7222013<li>E->D at 217: in dbSNP:rs3744307<li>E->V at 221: in dbSNP:rs4410141</ul>									<li>rs7222013</li><li>rs35397826</li><li>rs4410141</li><li>rs3744307</li>	2
O15409	93986	<ul><li>R->H at 553: in SPCH1, MIM: 602081</ul>								Speech-language disorder 1 (SPCH1) [MIM:602081]		2
O15417	84629	<ul><li>A->G at 1193: in dbSNP:rs12671708</ul>									rs12671708	2
O15431	1317	<ul><li>P->A at 25: in dbSNP:rs2233915</ul>									rs2233915	2
O15438	8714	<ul><li>G->D at 11: in dbSNP:rs11568609<li>S->F at 346: in dbSNP:rs11568605<li>R->G at 1286: in dbSNP:rs11568593<li>R->H at 1297: in dbSNP:rs11568591<li>Q->R at 1365: in dbSNP:rs11568590<li>R->S at 1381: in dbSNP:rs45461799</ul>									<li>rs11568590</li><li>rs11568605</li><li>rs11568591</li><li>rs11568609</li><li>rs45461799</li><li>rs11568593</li>	2
O15439	10257	<ul><li>L->I at 18: in dbSNP:rs11568681<li>P->A at 78: in dbSNP:rs11568689<li>C->G at 171: in dbSNP:rs4148460<li>M->T at 184: in dbSNP:rs45454092<li>G->W at 187: transport properties comparable to wild-type; dbSNP:rs11568658<li>K->E at 293: in dbSNP:rs11568684<li>K->N at 304: transport properties comparable to wild-type; dbSNP:rs2274407<li>T->M at 356: in dbSNP:rs11568701<li>P->L at 403: in dbSNP:rs11568705<li>G->E at 487: transport properties comparable to wild-type; dbSNP:rs11568668<li>K->E at 498: in dbSNP:rs11568669<li>Y->C at 556: 40% reduced expression level compared to wild-type; higher transport of 9-<li>I->M at 625: in dbSNP:rs11568699<li>P->L at 667: in dbSNP:rs11568697<li>M->V at 744: in dbSNP:rs9282570<li>E->K at 757: 10% reduced expression level compared to wild-type; transport properties comparable to wild-type; dbSNP:rs3765534<li>V->I at 776: 20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type<li>R->I at 820: transport properties comparable to wild-type; dbSNP:rs11568659<li>V->F at 854: transport properties comparable to wild-type: in dbSNP rsrs11568694<li>V->M at 860: in dbSNP:rs45477596<li>I->V at 866: transport properties comparable to wild-type<li>V->L at 900: in dbSNP:rs45504892<li>T->M at 1142: 10% reduced expression level compared to wild-type; transport properties comparable to wild-type</ul>	transport	GO:0006810							<li>rs11568694</li><li>rs11568684</li><li>rs45477596</li><li>rs11568681</li><li>rs11568697</li><li>rs9282570</li><li>rs45454092</li><li>rs45504892</li><li>rs11568701</li><li>rs11568705</li><li>rs3765534</li><li>rs11568689</li><li>rs11568658</li><li>rs11568699</li><li>rs4148460</li><li>rs11568659</li><li>rs11568668</li><li>rs11568669</li>	2
O15444	6370	<ul><li>T->A at 23: in dbSNP:rs960173<li>H->R at 101: in dbSNP:rs2032887<li>T->M at 104: in dbSNP:rs1129763</ul>									<li>rs960173</li><li>rs1129763</li><li>rs2032887</li>	2
O15446	10849	<ul><li>K->T at 259: in dbSNP:rs735482<li>T->A at 282: in dbSNP:rs3212989<li>K->E at 373: in dbSNP:rs762562<li>D->N at 394: in dbSNP:rs2336219<li>K->Q at 503: in dbSNP:rs3212986<li>Q->K at 504: in dbSNP:rs3212986</ul>									<li>rs735482</li><li>rs3212986</li><li>rs2336219</li><li>rs762562</li><li>rs3212989</li>	2
O15453		<ul><li>Q->E at 102: in dbSNP:rs11657835</ul>									rs11657835	2
O15455	7098	<ul><li>N->I at 284: in dbSNP:rs5743316<li>Y->D at 307: in dbSNP:rs5743317<li>L->F at 412: confers protection against progression to geographic atrophy in age-related macular degeneration; dbSNP:rs3775291<li>P->S at 554: in HSE; TLR3-deficient HSE, MIM: 603029<li>S->T at 737: in dbSNP:rs5743318, MIM: 603029</ul>							<li>Q5TJ59</li><li>O15455</li><li>Q0PV50</li>	TLR3-deficient herpes simplex encephalitis (HSE) [MIM:603029]	<li>rs5743318</li><li>rs3775291</li><li>rs5743316</li><li>rs5743317</li>	2
O15457	4438	<ul><li>A->V at 60: in dbSNP:rs5745311<li>A->T at 90: in dbSNP:rs5745324<li>A->T at 97: in dbSNP:rs5745325<li>E->K at 162: in dbSNP:rs5745329<li>Y->C at 589: in dbSNP:rs5745459<li>S->N at 914: in dbSNP:rs5745549</ul>									<li>rs5745324</li><li>rs5745325</li><li>rs5745549</li><li>rs5745329</li><li>rs5745311</li><li>rs5745459</li>	2
O15479	4113	<ul><li>K->E at 61: in dbSNP:rs2529541<li>G->R at 318: in dbSNP:rs5972090</ul>									<li>rs5972090</li><li>rs2529541</li>	2
O15480	4114	<ul><li>R->H at 107: in dbSNP:rs2071308<li>I->T at 112: in dbSNP:rs2071309</ul>									<li>rs2071309</li><li>rs2071308</li>	2
O15488	8908	<ul><li>H->Y at 7: in dbSNP:rs11797037<li>A->V at 270: in dbSNP:rs2306734<li>H->R at 313: in dbSNP:rs2306735<li>R->C at 373: in dbSNP:rs17330993</ul>									<li>rs11797037</li><li>rs2306735</li><li>rs2306734</li><li>rs17330993</li>	2
O15492	6004	<ul><li>R->H at 137: in dbSNP:rs1144566</ul>									rs1144566	2
O15499	2928	<ul><li>R->C at 47: in dbSNP rsrs34341950</ul>									rs34341950	2
O15503	3638	<ul><li>A->T at 27: in dbSNP:rs1129825</ul>									rs1129825	2
O15504	11097	<ul><li>D->N at 391: in dbSNP:rs13243961<li>K->N at 392: in dbSNP:rs34902971</ul>									<li>rs34902971</li><li>rs13243961</li>	2
O15516	9575	<ul><li>S->C at 208: in dbSNP:rs34897046<li>E->K at 380: in dbSNP:rs1056478<li>L->I at 395: in dbSNP:rs6855837<li>H->R at 542: in dbSNP:rs3762836</ul>									<li>rs3762836</li><li>rs34897046</li><li>rs6855837</li><li>rs1056478</li>	2
O15519	8837	<ul><li>L->I at 203: in dbSNP:rs13424615</ul>									rs13424615	2
O15520	2255	<ul><li>C->F at 106: in LADDS, MIM: 149730<li>I->R at 156: in LADDS, MIM: 149730</ul>								Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]		2
O15522	26257	<ul><li>D->A at 16</ul>										2
O15527	4968	<ul><li>G->E at 12: in kidney cancer; no effect on activity. Abolishes mitochondrial localization<li>R->Q at 46: in kidney cancer; diminished activity<li>A->S at 85: in lung cancer; dbSNP:rs17050550<li>R->Q at 131: in lung cancer; loss of activity<li>R->H at 154: in gastric cancer; No effect on base-excision activity. Alters substrate specificity and strongly increases mutagenic mis-repair; dbSNP:rs56053615<li>R->Q at 229: in dbSNP:rs1805373<li>S->T at 232: in kidney cancer<li>A->V at 288: in dbSNP:rs3219012<li>S->T at 320: in dbSNP:rs1801128<li>D->N at 322: in dbSNP:rs3219014<li>S->C at 326: common polymorphism in the Japanese population; dbSNP:rs1052133</ul>	localization	GO:0051179							<li>rs3219014</li><li>rs1801128</li><li>rs3219012</li><li>rs1052133</li><li>rs1805373</li><li>rs56053615</li><li>rs17050550</li>	2
O15528	1594	<ul><li>Q->H at 65: in VDDR I<li>R->H at 107: in VDDR I; complete loss of activity: in dbSNP rsrs28934604<li>G->E at 125: in VDDR I; complete loss of activity: in dbSNP rsrs28934605<li>V->L at 166: in dbSNP:rs8176344<li>E->G at 189: in VDDR I; 22% of wild-type activity<li>E->K at 189: in VDDR I; 11% of wild-type activity<li>T->R at 321: in VDDR I; complete loss of activity<li>S->Y at 323: in VDDR I<li>R->P at 335: in VDDR I; complete loss of activity: in dbSNP rsrs28934606<li>L->F at 343: in VDDR I; 2.3% of wild-type activity<li>P->S at 382: in VDDR I; complete loss of activity: in dbSNP rsrs28934607<li>R->C at 389: in VDDR I; complete loss of activity<li>R->G at 389: in VDDR I; complete loss of activity<li>R->H at 389: in VDDR I; complete loss of activity<li>T->I at 409: in VDDR I<li>R->P at 429: in VDDR I<li>R->C at 453: in VDDR I<li>V->G at 478: in VDDR I<li>P->R at 497: in VDDR I</ul>									<li>rs28934607</li><li>rs28934605</li><li>rs28934606</li><li>rs28934604</li><li>rs8176344</li>	2
O15529		<ul><li>C->R at 45: in dbSNP:rs423385<li>V->L at 227: in dbSNP:rs403989<li>V->A at 256: in dbSNP:rs424715</ul>									<li>rs403989</li><li>rs423385</li><li>rs424715</li>	2
O15533	6892	<ul><li>R->T at 260: in allele TAPBP*02; dbSNP:rs2071888</ul>							<li>Q6PZD2</li><li>Q5TJE4</li><li>O73895</li><li>O15533</li>		rs2071888	2
O15534	5187	<ul><li>E->Q at 696: in a breast cancer sample; somatic mutation<li>A->P at 962: in dbSNP:rs2585405<li>R->H at 968: in dbSNP:rs3027193<li>N->S at 985: in a breast cancer sample; somatic mutation<li>S->L at 1060: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3027193</li><li>rs2585405</li>	2
O15537	6247	<ul><li>L->H at 12: in XLRS1, MIM: 312700<li>L->P at 13: in XLRS1, MIM: 312700<li>C->S at 59: in XLRS1, MIM: 312700<li>Y->C at 65: in XLRS1, MIM: 312700<li>G->A at 70: in XLRS1, MIM: 312700<li>G->S at 70: in XLRS1, MIM: 312700<li>E->D at 72: in XLRS1, MIM: 312700<li>E->K at 72: in XLRS1, MIM: 312700<li>G->V at 74: in XLRS1, MIM: 312700<li>Missing  at 85: in XLRS1, MIM: 312700<li>Y->C at 89: in XLRS1, MIM: 312700<li>W->R at 96: in XLRS1, MIM: 312700<li>A->E at 98: in XLRS1, MIM: 312700<li>R->Q at 102: in XLRS1, MIM: 312700<li>R->W at 102: in XLRS1, MIM: 312700<li>L->R at 103: in XLRS1, MIM: 312700<li>F->C at 108: in XLRS1, MIM: 312700<li>G->E at 109: in XLRS1, MIM: 312700<li>G->R at 109: in XLRS1, MIM: 312700<li>G->W at 109: in XLRS1, MIM: 312700<li>C->Y at 110: in XLRS1, MIM: 312700<li>W->C at 112: in XLRS1, MIM: 312700<li>L->F at 113: in XLRS1, MIM: 312700<li>L->P at 127: in XLRS1, MIM: 312700<li>G->V at 135: in XLRS1, MIM: 312700<li>I->T at 136: in XLRS1, MIM: 312700<li>T->A at 138: in XLRS1, MIM: 312700<li>G->E at 140: in XLRS1, MIM: 312700<li>G->R at 140: in XLRS1, MIM: 312700<li>R->C at 141: in XLRS1, MIM: 312700<li>R->G at 141: in XLRS1, MIM: 312700<li>R->H at 141: in XLRS1, MIM: 312700<li>C->W at 142: in XLRS1, MIM: 312700<li>D->V at 143: in XLRS1, MIM: 312700<li>E->D at 146: in XLRS1, MIM: 312700<li>E->K at 146: in XLRS1, MIM: 312700<li>Y->C at 155: in XLRS1, MIM: 312700<li>D->N at 158: in dbSNP:rs1800002, MIM: 312700<li>W->C at 163: in XLRS1, MIM: 312700<li>G->D at 178: in XLRS1, MIM: 312700<li>R->C at 182: in XLRS1, MIM: 312700<li>P->R at 192: in XLRS1, MIM: 312700<li>P->S at 192: in XLRS1, MIM: 312700<li>P->L at 193: in XLRS1, MIM: 312700<li>P->S at 193: in XLRS1, MIM: 312700<li>R->C at 197: in XLRS1, MIM: 312700<li>R->H at 197: in XLRS1, MIM: 312700<li>I->T at 199: in XLRS1, MIM: 312700<li>R->C at 200: in XLRS1, MIM: 312700<li>R->H at 200: in XLRS1, MIM: 312700<li>P->L at 203: in XLRS1, MIM: 312700<li>H->Q at 207: in XLRS1, MIM: 312700<li>R->H at 209: in XLRS1, MIM: 312700<li>R->W at 213: in XLRS1, MIM: 312700<li>E->K at 215: in XLRS1, MIM: 312700<li>E->Q at 215: in XLRS1, MIM: 312700<li>L->P at 216: in XLRS1, MIM: 312700<li>C->G at 219: in XLRS1, MIM: 312700<li>C->R at 219: in XLRS1, MIM: 312700<li>K->N at 222: in dbSNP:rs1800004, MIM: 312700<li>C->R at 223: in XLRS1, MIM: 312700</ul>							<li>Q9W6R5</li><li>O15537</li>	X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	<li>rs1800004</li><li>rs1800002</li>	2
O15540	2173	<ul><li>T->M at 61: in dbSNP:rs2279381</ul>									rs2279381	2
O15547	9127	<ul><li>R->H at 232: in dbSNP:rs2277838</ul>									rs2277838	2
O15550	7403	<ul><li>A->T at 30: in dbSNP:rs6529<li>Q->H at 497: in dbSNP:rs6530<li>T->A at 581: in dbSNP:rs34922269<li>T->K at 726: in dbSNP:rs2230018<li>L->R at 1106: in a colorectal cancer sample; somatic mutation</ul>									<li>rs6530</li><li>rs6529</li><li>rs2230018</li><li>rs34922269</li>	2
O15552	2867	<ul><li>L->H at 211: in dbSNP:rs409093</ul>									rs409093	2
O15553	4210	<ul><li>V->L at 33: in dbSNP:rs11466016<li>R->W at 42: in arFMF, MIM: 249100<li>S->R at 108: in arFMF, MIM: 249100<li>L->P at 110: in arFMF; dbSNP:rs11466018, MIM: 249100<li>G->A at 138: association with renal amyloidosis, MIM: 249100<li>E->Q at 148: in arFMF and adFMF; common mutation; associated with S-369 and Q-408 in cis; associated with I-694 in some patients; dbSNP:rs3743930, MIM: 249100<li>E->V at 148: in arFMF, MIM: 249100<li>E->A at 163: in arFMF, MIM: 249100<li>E->D at 167: in arFMF, MIM: 249100<li>T->I at 177: in arFMF, MIM: 249100<li>R->Q at 202: in dbSNP:rs224222, MIM: 249100<li>E->K at 230: in arFMF, MIM: 249100<li>T->I at 267: in arFMF, MIM: 249100<li>E->K at 319: in arFMF, MIM: 249100<li>P->S at 369: in arFMF; reduced penetrance among Ashkenazi Jews; associated with Q-148 and Q-408 in cis; could be a polymorphism; dbSNP:rs11466023, MIM: 249100<li>R->Q at 408: in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024, MIM: 249100<li>Q->E at 440: in dbSNP:rs11466026, MIM: 249100<li>E->K at 474: in arFMF, MIM: 249100<li>H->Y at 478: in adFMF; severe, MIM: 134610<li>F->L at 479: in arFMF, MIM: 249100<li>F->L at 585: in dbSNP:rs11466043, MIM: 249100<li>I->T at 591: in arFMF; could be a polymorphism; dbSNP:rs11466045, MIM: 249100<li>G->S at 632: in arFMF, MIM: 249100<li>I->M at 640: in arFMF, MIM: 249100<li>I->F at 641: in arFMF, MIM: 249100<li>P->L at 646: in arFMF, MIM: 249100<li>L->P at 649: in arFMF, MIM: 249100<li>R->H at 653: in arFMF, MIM: 249100<li>E->A at 656: in arFMF, MIM: 249100<li>D->N at 661: in arFMF, MIM: 249100<li>S->N at 675: in arFMF, MIM: 249100<li>G->E at 678: in arFMF, MIM: 249100<li>M->I at 680: in arFMF and adFMF; dbSNP:rs28940580, MIM: 249100<li>M->L at 680: in arFMF, MIM: 249100<li>T->I at 681: in arFMF, MIM: 249100<li>Y->C at 688: in arFMF, MIM: 249100<li>Missing  at 692: in arFMF, MIM: 249100<li>M->I at 694: in arFMF and adFMF; associated with Q-148 in some patients; dbSNP:rs28940578, MIM: 249100<li>M->L at 694: in arFMF, MIM: 249100<li>M->V at 694: in arFMF and adFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development, MIM: 249100<li>Missing  at 694: in arFMF and adFMF, MIM: 249100<li>K->M at 695: in arFMF, MIM: 249100<li>K->R at 695: in arFMF; reduced penetrance among Ashkenazi Jews, MIM: 249100<li>S->C at 702: in one patient with familial Mediterranean fever, MIM: 249100<li>V->I at 704: in arFMF, MIM: 249100<li>P->S at 705: in arFMF, MIM: 249100<li>I->M at 720: in arFMF, MIM: 249100<li>V->A at 726: in arFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians; dbSNP:rs28940579, MIM: 249100<li>F->L at 743: in arFMF, MIM: 249100<li>A->S at 744: in arFMF; uncertain pathological significance, MIM: 249100<li>P->S at 758: in arFMF, MIM: 249100<li>R->H at 761: in arFMF, MIM: 249100<li>P->T at 780: in arFMF, MIM: 249100</ul>	<li>fever</li><li>development</li>	<li>GO:0001660</li><li>GO:0007275</li>					Q62225	<li>Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]</li><li>Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]</li>	<li>rs11466018</li><li>rs28940580</li><li>rs28940578</li><li>rs28940579</li><li>rs11466043</li><li>rs3743930</li><li>rs11466026</li><li>rs11466045</li><li>rs11466016</li><li>rs11466023</li><li>rs224222</li><li>rs11466024</li>	2
O42043		<ul><li>C->Y at 97: in allele HERV-K18.1 and allele HERV-K18.3<li>Missing  at 155-560: in allele HERV-K18.1<li>V->I at 272: in allele HERV-K18.3<li>V->I at 348: in allele HERV-K18.3<li>V->I at 534: in allele HERV-K18.3</ul>							<li>Q5BJY9</li><li>P08802</li><li>P05783</li><li>P05784</li>			2
O43147	9905	<ul><li>L->M at 63: in dbSNP:rs17853891<li>R->K at 238: in dbSNP:rs745400<li>R->S at 244: in dbSNP:rs17853888<li>H->R at 329: in dbSNP:rs17857178<li>R->Q at 374: in dbSNP:rs2248821<li>D->V at 968: in dbSNP:rs17857180</ul>									<li>rs17857180</li><li>rs17853891</li><li>rs2248821</li><li>rs17853888</li><li>rs17857178</li><li>rs745400</li>	2
O43149	23140	<ul><li>V->A at 30: in dbSNP:rs1454121<li>I->V at 1021: in dbSNP:rs16953687<li>S->A at 1437: in dbSNP:rs4790555<li>L->P at 1972: in dbSNP:rs781852<li>I->V at 2014: in dbSNP:rs781831<li>P->S at 2051: in dbSNP:rs1006954<li>Y->H at 2301: in dbSNP:rs34357158<li>L->P at 2303: in dbSNP:rs35638819<li>E->Q at 2369: in dbSNP:rs711177<li>A->T at 2421: in dbSNP:rs781861</ul>									<li>rs1006954</li><li>rs781861</li><li>rs711177</li><li>rs34357158</li><li>rs781831</li><li>rs4790555</li><li>rs35638819</li><li>rs781852</li><li>rs1454121</li><li>rs16953687</li>	2
O43150	8853	<ul><li>E->D at 748: in dbSNP:rs2715860</ul>									rs2715860	2
O43155	23768	<ul><li>R->Q at 486: in dbSNP:rs17646457</ul>									rs17646457	2
O43156	9675	<ul><li>R->H at 450: in dbSNP:rs36059660<li>A->V at 671: in dbSNP:rs1057238<li>K->E at 751: in dbSNP:rs6091654<li>A->T at 979: in dbSNP:rs1064275<li>R->K at 1028: in dbSNP:rs34900517</ul>									<li>rs36059660</li><li>rs34900517</li><li>rs6091654</li><li>rs1057238</li><li>rs1064275</li>	2
O43157	5364	<ul><li>R->W at 389: in dbSNP:rs34050056<li>S->L at 753: in dbSNP:rs35592743<li>D->V at 1891: in a breast cancer sample; somatic mutation</ul>									<li>rs35592743</li><li>rs34050056</li>	2
O43159	23378	<ul><li>A->P at 145: in dbSNP:rs11040934<li>P->S at 329: in dbSNP:rs17834692</ul>									<li>rs11040934</li><li>rs17834692</li>	2
O43164	9867	<ul><li>R->Q at 297: in dbSNP:rs1045706<li>A->T at 705: in dbSNP:rs246105</ul>									<li>rs1045706</li><li>rs246105</li>	2
O43166	26037	<ul><li>P->T at 56: in dbSNP:rs12884638<li>E->D at 996: in a breast cancer sample; somatic mutation</ul>									rs12884638	2
O43173	51046	<ul><li>K->T at 91: in dbSNP:rs3745060</ul>									rs3745060	2
O43175	26227	<ul><li>V->M at 425: in PHGDH deficiency, MIM: 601815<li>V->M at 490: in PHGDH deficiency, MIM: 601815</ul>							<li>Q5R7M2</li><li>Q5EAD2</li><li>O43175</li><li>Q60HD7</li>	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]		2
O43181	4724	<ul><li>T->P at 174: in dbSNP:rs1044692</ul>									rs1044692	2
O43182	395	<ul><li>D->E at 791: in dbSNP:rs1009758</ul>									rs1009758	2
O43184	8038	<ul><li>G->R at 48: in dbSNP:rs3740199<li>D->H at 301: in a breast cancer sample; somatic mutation<li>G->E at 479: in a breast cancer sample; somatic mutation<li>L->F at 792: in a breast cancer sample; somatic mutation</ul>									rs3740199	2
O43186	1406	<ul><li>R->Q at 41: in RP, MIM: 268000<li>R->W at 41: in CORD2, MIM: 120970<li>E->A at 80: in CORD2: in dbSNP rsrs28939682, MIM: 120970<li>R->W at 90: in LCA1; reduced DNA-binding ability, MIM: 204000<li>G->D at 122: in RP, MIM: 268000<li>S->F at 141: in a breast cancer sample; somatic mutation, MIM: 268000<li>Missing  at 146-149: in LCA1, MIM: 268000<li>A->T at 158, MIM: 268000<li>V->M at 242: in CORD2, MIM: 120970</ul>			DNA-binding	GO:0003677			<li>Q42883</li><li>O43186</li>	<li>Leber congenital amaurosis (LCA1) [MIM:204000, 602225]</li><li>Retinitis pigmentosa (RP) [MIM:268000]</li><li>Cone-rod dystrophy type 2 (CORD2) [MIM:120970]</li>	rs28939682	2
O43187	3656	<ul><li>R->Q at 43: in dbSNP rsrs34945585<li>S->Y at 47: in dbSNP:rs11465864<li>I->V at 99: in dbSNP rsrs55898544<li>R->T at 147: in dbSNP rsrs56053222<li>R->G at 214: in dbSNP rsrs35060588<li>S->L at 249: in a lung adenocarcinoma sample; somatic mutation<li>L->V at 392: in dbSNP:rs3844283<li>P->T at 421: in a lung adenocarcinoma sample; somatic mutation<li>D->E at 431: in dbSNP:rs708035<li>L->V at 439: in dbSNP:rs11465927<li>D->N at 469: in dbSNP rsrs56242986<li>L->I at 503: in dbSNP:rs9854688<li>R->W at 566: in dbSNP rsrs55740652<li>D->H at 574: in dbSNP:rs11465930</ul>									<li>rs11465927</li><li>rs35060588</li><li>rs56053222</li><li>rs708035</li><li>rs55898544</li><li>rs56242986</li><li>rs11465864</li><li>rs34945585</li><li>rs11465930</li><li>rs3844283</li><li>rs9854688</li><li>rs55740652</li>	2
O43189	5252	<ul><li>T->S at 42: in dbSNP:rs6934613<li>K->R at 304: in dbSNP:rs3116713</ul>									<li>rs3116713</li><li>rs6934613</li>	2
O43194	2863	<ul><li>A->V at 50: in dbSNP:rs2241764<li>R->C at 390: in dbSNP:rs16838944</ul>									<li>rs2241764</li><li>rs16838944</li>	2
O43196	4439	<ul><li>P->S at 29: in dbSNP:rs2075789<li>L->F at 85: in dbSNP:rs28381349<li>Y->C at 202: in dbSNP:rs28381358<li>V->F at 206: in dbSNP:rs28381359<li>R->G at 351: in dbSNP:rs28399976<li>L->F at 377: in dbSNP:rs28399977<li>P->S at 786: in dbSNP:rs1802127</ul>									<li>rs2075789</li><li>rs1802127</li><li>rs28381359</li><li>rs28399977</li><li>rs28399976</li><li>rs28381358</li><li>rs28381349</li>	2
O43236	5414	<ul><li>E->V at 311: in dbSNP:rs17741424</ul>									rs17741424	2
O43240	5655	<ul><li>A->S at 50: in dbSNP:rs3745535<li>P->L at 149: in dbSNP:rs2075690</ul>									<li>rs2075690</li><li>rs3745535</li>	2
O43246	6545	<ul><li>T->I at 28: in dbSNP:rs2072550<li>A->T at 349: in dbSNP:rs2270384</ul>									<li>rs2270384</li><li>rs2072550</li>	2
O43248	3227	<ul><li>P->S at 130: in dbSNP rsrs34652380<li>A->V at 222: in dbSNP:rs12427129</ul>									<li>rs34652380</li><li>rs12427129</li>	2
O43252	9061	<ul><li>L->F at 270: in dbSNP:rs1127008<li>S->L at 587: in dbSNP rsrs1127014</ul>									<li>rs1127014</li><li>rs1127008</li>	2
O43257	10467	<ul><li>R->W at 134: in a colorectal cancer sample; somatic mutation</ul>										2
O43264	9183	<ul><li>I->M at 77: in dbSNP:rs2271796</ul>									rs2271796	2
O43272	5625	<ul><li>A->V at 83: associated with susceptibility to SCZD4; moderate reduction of enzymatic activity<li>R->Q at 101: no effect on enzymatic activity<li>R->W at 101: moderate reduction of enzymatic activity; dbSNP:rs4819756<li>T->N at 191<li>L->M at 205: can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; no effect on enzymatic activity<li>P->L at 322: associated with susceptibility to SCZD4; strongly reduced enzymatic activity; dbSNP:rs3970555<li>D->N at 342: moderate reduction of enzymatic activity<li>V->M at 343: associated with susceptibility to SCZD4; moderate reduction of enzymatic activity; dbSNP:rs2238731<li>R->H at 347: associated with hyperprolinemia type 1 in a subset of schizophrenia patients; moderate reduction of enzymatic activity; dbSNP:rs2904552<li>L->P at 357: in hyperprolinemia type 1; associated with susceptibility to SCZD4; strongly reduced enzymatic activity; dbSNP:rs2904551, MIM: 239500<li>G->D at 360, MIM: 239500<li>R->C at 369: associated with susceptibility to SCZD4; can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; strongly reduced enzymatic activity; dbSNP:rs3970559, MIM: 239500<li>A->S at 371: can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; no effect on enzymatic activity; dbSNP:rs1807467, MIM: 239500<li>T->M at 382: associated with susceptibility to SCZD4; strongly reduced affinity for FAD and enzymatic activity; dbSNP:rs2870984, MIM: 239500<li>A->T at 388: associated with susceptibility to SCZD4; no effect on enzymatic activity; dbSNP:rs2870983, MIM: 239500<li>N->S at 404: in a breast cancer sample; somatic mutation, MIM: 239500<li>Q->E at 437: strongly reduced enzymatic activity, MIM: 239500<li>Q->R at 437: associated with susceptibility to SCZD4; can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; enhanced enzymatic activity; dbSNP:rs450046, MIM: 239500</ul>								Hyperprolinemia type 1 [MIM:239500]		2
O43278	6692	<ul><li>Y->C at 123: in dbSNP:rs11549915<li>T->R at 142: in dbSNP:rs12323939<li>P->L at 337: in dbSNP:rs7165897</ul>									<li>rs12323939</li><li>rs11549915</li><li>rs7165897</li>	2
O43280	11181	<ul><li>T->A at 389: in dbSNP:rs2276065<li>Y->H at 449: in dbSNP:rs11827611<li>R->W at 486: in dbSNP:rs2276064<li>A->P at 558: in dbSNP:rs6589671</ul>									<li>rs2276064</li><li>rs2276065</li><li>rs11827611</li><li>rs6589671</li>	2
O43281	10278	<ul><li>T->A at 7: in dbSNP:rs2231798<li>V->M at 100: in dbSNP:rs2231801<li>M->I at 361: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2231801</li><li>rs2231798</li>	2
O43283	9175	<ul><li>E->K at 44: in dbSNP:rs35266179<li>R->G at 517: in dbSNP rsrs56408536<li>E->K at 712: in dbSNP rsrs56309231<li>P->L at 746: in a metastatic melanoma sample; somatic mutation<li>R->H at 915: in dbSNP:rs3732576</ul>									<li>rs56408536</li><li>rs56309231</li><li>rs3732576</li><li>rs35266179</li>	2
O43286	9334	<ul><li>G->S at 61: in dbSNP:rs2273086<li>D->N at 368: in dbSNP:rs235035<li>Y->D at 371: in dbSNP:rs35195217</ul>									<li>rs35195217</li><li>rs235035</li><li>rs2273086</li>	2
O43290	9092	<ul><li>R->C at 245: in dbSNP:rs688862<li>S->A at 463: in dbSNP:rs35036096<li>G->A at 485: in dbSNP:rs660118</ul>									<li>rs35036096</li><li>rs660118</li><li>rs688862</li>	2
O43291	10653	<ul><li>V->L at 200: in dbSNP rsrs11548457</ul>									rs11548457	2
O43293	1613	<ul><li>T->M at 112: in a colorectal adenocarcinoma sample; somatic mutation<li>D->N at 161: in an ovarian mucinous carcinoma sample; somatic mutation<li>P->S at 216: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>										2
O43294	7041	<ul><li>Q->H at 129: in dbSNP:rs45475699</ul>									rs45475699	2
O43295	9901	<ul><li>L->I at 623: in a breast cancer sample; somatic mutation<li>I->V at 628: in dbSNP:rs2271207</ul>									rs2271207	2
O43296	9422	<ul><li>R->T at 181: in dbSNP:rs2074858<li>R->H at 183: in dbSNP:rs917340</ul>									<li>rs2074858</li><li>rs917340</li>	2
O43299	9907	<ul><li>S->C at 94: in dbSNP:rs11549839</ul>									rs11549839	2
O43303	9738	<ul><li>I->M at 252: in dbSNP:rs226891<li>M->I at 375: in dbSNP:rs7190666</ul>									<li>rs226891</li><li>rs7190666</li>	2
O43306	112	<ul><li>A->S at 674: in dbSNP:rs3730071</ul>									rs3730071	2
O43307	23229	<ul><li>G->A at 55: in STHEE; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses, MIM: 300607</ul>					synapses	GO:0045202		Startle disease with epilepsy (STHEE) [MIM:300607]		2
O43310	9811	<ul><li>P->L at 82: in dbSNP:rs2277712<li>V->L at 389: in a breast cancer sample; somatic mutation<li>M->I at 438: in a breast cancer sample; somatic mutation</ul>									rs2277712	2
O43312	9788	<ul><li>N->I at 305: in dbSNP:rs2303956<li>T->A at 725: in dbSNP:rs3829037</ul>									<li>rs3829037</li><li>rs2303956</li>	2
O43313	23300	<ul><li>S->P at 240: in dbSNP:rs2278022<li>K->E at 305: in dbSNP:rs2278023</ul>									<li>rs2278022</li><li>rs2278023</li>	2
O43314	23262	<ul><li>A->G at 944: in dbSNP:rs17155115<li>E->K at 985: in dbSNP:rs12519525<li>R->K at 1003: in dbSNP:rs12520040<li>P->Q at 1206: in dbSNP:rs17155138<li>T->M at 1232: in dbSNP:rs17155147</ul>									<li>rs12519525</li><li>rs17155115</li><li>rs17155147</li><li>rs17155138</li><li>rs12520040</li>	2
O43315	366	<ul><li>A->T at 279: in dbSNP:rs1867380</ul>									rs1867380	2
O43345	7757	<ul><li>E->K at 282: in dbSNP:rs2007506<li>S->L at 298: in dbSNP:rs12462668<li>E->Q at 456: in dbSNP:rs7255075</ul>									<li>rs2007506</li><li>rs7255075</li><li>rs12462668</li>	2
O43347	4440	<ul><li>E->Q at 160: in a breast cancer sample; somatic mutation</ul>										2
O43353	8767	<ul><li>I->T at 259: in dbSNP:rs2230801<li>L->V at 268: in dbSNP:rs35004667<li>K->N at 313: in dbSNP rsrs35395048</ul>									<li>rs35395048</li><li>rs2230801</li><li>rs35004667</li>	2
O43361		<ul><li>Q->R at 156: in dbSNP:rs12986235<li>A->T at 318: in dbSNP:rs2240038<li>I->R at 684: in dbSNP:rs7246856</ul>									<li>rs7246856</li><li>rs2240038</li><li>rs12986235</li>	2
O43364	3199	<ul><li>Q->K at 186: in microtia hearing impairment and cleft palate<li>M->L at 196: in dbSNP:rs941002</ul>	hearing	GO:0007605							rs941002	2
O43365	3200	<ul><li>D->N at 42: in a breast cancer sample; somatic mutation<li>A->T at 131: in a breast cancer sample; somatic mutation</ul>										2
O43374		<ul><li>M->V at 352: in dbSNP:rs746316<li>R->P at 432: in dbSNP:rs886346<li>Y->C at 731: in dbSNP:rs1060228</ul>									<li>rs886346</li><li>rs746316</li><li>rs1060228</li>	2
O43379	284403	<ul><li>K->R at 289: in dbSNP:rs12327568<li>S->L at 850: in dbSNP:rs2285745<li>Q->L at 1305: in dbSNP:rs2074435<li>G->S at 1370: in dbSNP:rs17851503<li>F->L at 1385: in dbSNP:rs1008328</ul>									<li>rs1008328</li><li>rs17851503</li><li>rs12327568</li><li>rs2074435</li><li>rs2285745</li>	2
O43395	9129	<ul><li>K->N at 12: in dbSNP:rs12736964<li>P->S at 493: in RP18, MIM: 601414<li>T->M at 494: in RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing, MIM: 601414</ul>	phosphorylation	GO:0016310	binding	GO:0005488	snRNP	GO:0030532	<li>Q5NVD0</li><li>Q02326</li><li>P05739</li><li>O43172</li>	Retinitis pigmentosa type 18 (RP18) [MIM:601414]	rs12736964	2
O43405	1690	<ul><li>P->S at 51: in DFNA9; Meniere disease; does not affect protein deposition to the extracellular matrix: in dbSNP rsrs28938175, MIM: 601369<li>V->G at 66: in DFNA9; affects protein deposition to the extracellular matrix, MIM: 601369<li>G->E at 88: in DFNA9; affects protein deposition to the extracellular matrix, MIM: 601369<li>I->N at 109: in DFNA9; affects protein deposition to the extracellular matrix, MIM: 601369<li>W->R at 117: in DFNA9; does not affect protein deposition to the extracellular matrix, MIM: 601369<li>A->T at 119: in DFNA9, MIM: 601369<li>G->R at 135: in dbSNP:rs28400035, MIM: 601369<li>D->N at 281: in dbSNP:rs28362775, MIM: 601369<li>T->S at 352: in dbSNP:rs1045644, MIM: 601369<li>I->V at 402: in dbSNP:rs28362778, MIM: 601369<li>E->G at 518: in dbSNP:rs17097468, MIM: 601369<li>P->S at 532: in dbSNP:rs1801963, MIM: 601369</ul>					extracellular matrix	GO:0005578,GO:0048196		Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	<li>rs1801963</li><li>rs28362775</li><li>rs1045644</li><li>rs28400035</li><li>rs28362778</li><li>rs28938175</li><li>rs17097468</li>	2
O43423	23520	<ul><li>A->V at 23: in dbSNP rsrs2288674<li>R->K at 71: in dbSNP:rs2288675<li>L->P at 105: in dbSNP:rs17008716<li>Y->H at 140<li>E->G at 204: in dbSNP:rs2288676</ul>									<li>rs17008716</li><li>rs2288674</li><li>rs2288675</li><li>rs2288676</li>	2
O43424	2895	<ul><li>T->M at 68: in dbSNP:rs34144324<li>T->N at 209: in a colorectal cancer sample; somatic mutation<li>F->S at 398: in dbSNP:rs34796082<li>V->I at 490: in dbSNP:rs10034345</ul>									<li>rs10034345</li><li>rs34796082</li><li>rs34144324</li>	2
O43426	8867	<ul><li>K->R at 295: in dbSNP:rs2254562<li>V->A at 1366: in dbSNP:rs9980589<li>L->P at 1545: in dbSNP:rs2230767<li>P->L at 1547: in dbSNP:rs2230767</ul>									<li>rs9980589</li><li>rs2230767</li><li>rs2254562</li>	2
O43427	9158	<ul><li>R->W at 152: in dbSNP:rs11559154<li>M->V at 351: in dbSNP:rs2231893</ul>									<li>rs2231893</li><li>rs11559154</li>	2
O43432	8672	<ul><li>Q->R at 378: in dbSNP:rs35731992<li>P->A at 496: in dbSNP:rs35176330<li>D->E at 1185: in dbSNP:rs2230572</ul>									<li>rs2230572</li><li>rs35176330</li><li>rs35731992</li>	2
O43435	6899	<ul><li>F->Y at 148: in CTHM and VCFS: in dbSNP rsrs28939675, MIM: 192430<li>H->Q at 194: in VCFS, MIM: 192430<li>G->S at 310: in DGS; dbSNP:rs41298838, MIM: 188400<li>G->E at 337: in a colorectal cancer sample; somatic mutation, MIM: 188400<li>T->M at 350: in dbSNP:rs4819522, MIM: 188400</ul>								<li>Velocardiofacial syndrome (VCFS) [MIM:192430]</li><li>Conotruncal heart malformations (CTHM) [MIM:217095]</li><li>DiGeorge syndrome (DGS) [MIM:188400]</li>	<li>rs41298838</li><li>rs4819522</li><li>rs28939675</li>	2
O43451	8972	<ul><li>Q->H at 404: in dbSNP:rs2272330<li>S->L at 542: in dbSNP:rs10266732<li>N->D at 858: in dbSNP:rs2960746<li>L->I at 1638: in dbSNP:rs9655651</ul>									<li>rs10266732</li><li>rs9655651</li><li>rs2272330</li><li>rs2960746</li>	2
O43464	27429	<ul><li>L->P at 72<li>A->S at 141: polymorphism; associated with a 2.15-fold increased risk of PD; reduced protease activity<li>G->S at 399: in PARK13; reduced protease activity, MIM: 610297<li>R->W at 404: could be associated with an increased risk of developing PD, MIM: 610297</ul>							<li>P19028</li><li>Q9QBZ5</li><li>P24107</li><li>Q9QBZ1</li><li>Q79666</li><li>P15833</li><li>P03362</li><li>P18042</li><li>Q8AII1</li><li>P03363</li><li>P04024</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P0C210</li><li>P51518</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P10394</li><li>P19561</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>Q77373</li><li>P03370</li><li>P27502</li><li>P21414</li>	Parkinson disease type 13 (PARK13) [MIM:610297, 168600]		2
O43488	8574	<ul><li>V->M at 135: in dbSNP:rs6670759<li>A->T at 142: in dbSNP:rs1043657<li>Q->H at 157: in dbSNP:rs859208<li>G->S at 198: in dbSNP:rs2231200<li>C->Y at 214: in dbSNP:rs2235794<li>S->N at 255: in dbSNP:rs2231203</ul>									<li>rs2235794</li><li>rs2231200</li><li>rs2231203</li><li>rs1043657</li><li>rs6670759</li><li>rs859208</li>	2
O43490	8842	<ul><li>A->G at 31<li>A->S at 31</ul>										2
O43491	2037	<ul><li>Q->H at 17: in dbSNP:rs2297852</ul>									rs2297852	2
O43493	10618	<ul><li>L->V at 10: in dbSNP:rs1128140<li>A->G at 86: in dbSNP:rs1044962<li>Q->L at 91: in dbSNP:rs1044963<li>K->Q at 103: in dbSNP:rs1044964<li>Q->P at 105: in dbSNP:rs1044965<li>R->W at 259: in dbSNP:rs4247303<li>E->G at 322: in dbSNP:rs1044969</ul>									<li>rs1044969</li><li>rs4247303</li><li>rs1044965</li><li>rs1044964</li><li>rs1044963</li><li>rs1128140</li><li>rs1044962</li>	2
O43502	5889	<ul><li>I->T at 144: in dbSNP rsrs28363307<li>R->C at 249: in dbSNP rsrs28363311<li>T->A at 287: in dbSNP:rs28363317</ul>									<li>rs28363311</li><li>rs28363317</li><li>rs28363307</li>	2
O43505	11041	<ul><li>T->S at 253: in dbSNP rsrs35429253</ul>									rs35429253	2
O43506	8748	<ul><li>F->L at 19: in dbSNP:rs1059166</ul>									rs1059166	2
O43511	5172	<ul><li>R->G at 24: in Pendred syndrome/deafness individuals<li>S->R at 28: in PDS and DFNB4, MIM: 274600<li>E->Q at 29: in PDS, MIM: 274600<li>Y->C at 78: in PDS, MIM: 274600<li>S->L at 90: in DFNB4, MIM: 600791<li>G->R at 102: in PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600<li>A->V at 104: in Pendred syndrome/deafness individuals, MIM: 274600<li>Y->C at 105: in PDS, MIM: 274600<li>A->D at 106: in PDS, MIM: 274600<li>L->F at 117: in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport, MIM: 274600<li>P->S at 123: in DFNB4, MIM: 600791<li>T->I at 132: in DFNB4, MIM: 600791<li>S->T at 133: in PDS, MIM: 274600<li>S->P at 137: in PDS, MIM: 274600<li>V->F at 138: in PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600<li>G->A at 139: in PDS, MIM: 274600<li>M->V at 147: in DFNB4, MIM: 600791<li>T->I at 193: in PDS, MIM: 274600<li>G->V at 209: in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane, MIM: 274600<li>L->P at 236: in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600<li>V->D at 239: in PDS and DFNB4, MIM: 274600<li>S->P at 252: in DFNB4, MIM: 600791<li>D->H at 271: in PDS, MIM: 274600<li>P->L at 301: in dbSNP:rs34373141, MIM: 274600<li>N->Y at 324: in dbSNP:rs36039758, MIM: 274600<li>F->L at 335: in PDS, MIM: 274600<li>K->E at 369: in DFNB4, MIM: 600791<li>A->V at 372: in DFNB4, MIM: 600791<li>E->G at 384: in PDS and PDS/DFNB4, MIM: 274600<li>S->N at 391: in PDS, MIM: 274600<li>N->Y at 392: in DFNB4, MIM: 600791<li>R->H at 409: in PDS, MIM: 274600<li>R->P at 409: in DFNB4, MIM: 600791<li>T->M at 410: in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600<li>A->P at 411: in PDS, MIM: 274600<li>T->P at 416: in PDS and DFNB4; common mutation: in dbSNP rsrs28939086, MIM: 274600<li>Q->R at 421: in Pendred syndrome/deafness individuals, MIM: 274600<li>Missing  at 429: in Pendred syndrome/deafness individuals, MIM: 274600<li>L->W at 445: in PDS and DFNB4, MIM: 274600<li>Q->R at 446: in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600<li>I->F at 455: in DFNB4, MIM: 600791<li>N->K at 457: in DFNB4, MIM: 600791<li>V->D at 480: in PDS; retains residual transport function, MIM: 274600<li>I->L at 490: in DFNB4, MIM: 600791<li>G->S at 497: in DFNB4, MIM: 600791<li>T->N at 508: in PDS, MIM: 274600<li>Q->R at 514: in PDS, MIM: 274600<li>Y->H at 530: in PDS, MIM: 274600<li>Y->S at 530: in PDS, MIM: 274600<li>S->I at 552: in PDS, MIM: 274600<li>Y->C at 556: in PDS; partially affects protein localization to cell membrane; abolishes iodide transport, MIM: 274600<li>Y->H at 556: in PDS, MIM: 274600<li>C->Y at 565: in PDS, MIM: 274600<li>L->S at 597: in PDS; common mutation: in dbSNP rsrs55638457, MIM: 274600<li>V->G at 609: in PDS; could be a polymorphism; dbSNP:rs17154335, MIM: 274600<li>V->A at 653: in PDS; retains residual transport function, MIM: 274600<li>S->F at 666: in DFNB4, MIM: 600791<li>F->C at 667: in PDS, MIM: 274600<li>G->E at 672: in PDS; partially affects protein localization to cell membrane; abolishes iodide transport, MIM: 274600<li>L->Q at 676: in DFNB4, MIM: 600791<li>F->S at 683: in Pendred syndrome/deafness individuals, MIM: 600791<li>D->Y at 687: in dbSNP:rs35548413, MIM: 600791<li>S->P at 694: in PDS, MIM: 274600<li>T->M at 721: in DFNB4 and PDS, MIM: 274600<li>H->R at 723: in DFNB4 and PDS; common mutation in Korea and Japan, MIM: 274600<li>D->N at 724: in PDS, MIM: 274600<li>G->S at 740: in dbSNP:rs17154353, MIM: 274600<li>R->C at 776: in PDS; retains its ability to transport iodide in vitro, MIM: 274600</ul>	<li>protein localization</li><li>transport</li><li>iodide transport</li>	<li>GO:0008104</li><li>GO:0006810</li><li>GO:0015705</li>			cell membrane	GO:0005886	<li>Q07356</li><li>O43511</li><li>P80093</li><li>P41222</li><li>P28554</li><li>P49086</li><li>Q40406</li><li>Q9ZTN9</li>	<li>Pendred syndrome (PDS) [MIM:274600]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 4 (DFNB4) [MIM:600791]</li>	<li>rs28939086</li><li>rs34373141</li><li>rs17154353</li><li>rs17154335</li><li>rs55638457</li><li>rs35548413</li><li>rs36039758</li>	2
O43516	7456	<ul><li>L->P at 198: in dbSNP:rs4972450<li>A->G at 495</ul>									rs4972450	2
O43520	5205	<ul><li>N->T at 45: in ICP, MIM: 147480<li>D->N at 70: in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; dbSNP:rs34719006, MIM: 243300<li>H->Q at 78: in dbSNP:rs3745079, MIM: 243300<li>L->P at 127: in PFIC1, MIM: 211600<li>K->E at 203: in ICP: in dbSNP rsrs56355310, MIM: 147480<li>L->S at 288: in PFIC1, MIM: 211600<li>F->I at 305, MIM: 211600<li>G->D at 308: in BRIC1; dbSNP:rs28939685, MIM: 243300<li>G->V at 308: in PFIC1: in dbSNP rsrs28939685, MIM: 211600<li>I->F at 344: in BRIC1, MIM: 243300<li>R->H at 384: in dbSNP:rs2271260, MIM: 243300<li>I->V at 393: in dbSNP:rs34315917, MIM: 243300<li>S->Y at 403: in PFIC1, MIM: 211600<li>R->P at 412: in PFIC1, MIM: 211600<li>E->A at 429: in dbSNP:rs34018205, MIM: 211600<li>S->Y at 453: in BRIC1, MIM: 243300<li>D->G at 454: in BRIC1, MIM: 243300<li>T->M at 456: in PFIC1, MIM: 211600<li>Y->H at 500: in PFIC1, MIM: 211600<li>Missing  at 529: in PFIC1, MIM: 211600<li>H->L at 535: in PFIC1, MIM: 211600<li>D->N at 554: in PFIC1, MIM: 211600<li>I->V at 577: in dbSNP:rs3745078, MIM: 211600<li>S->N at 580: in dbSNP:rs33963153, MIM: 211600<li>R->Q at 600: in BRIC1; compound heterozygote with N-70, MIM: 243300<li>R->W at 600: in BRIC1, MIM: 243300<li>R->W at 628: in BRIC1, MIM: 243300<li>Missing  at 645-699: in PFIC1, MIM: 243300<li>I->T at 661: in BRIC1 and PFIC1; common mutation: in dbSNP rsrs28939686, MIM: 211600<li>M->T at 674: in dbSNP:rs35470719, MIM: 211600<li>D->G at 688: in PFIC1, MIM: 211600<li>I->T at 694: in BRIC1, MIM: 243300<li>G->R at 733: in PFIC1, MIM: 211600<li>Missing  at 795-797: in BRIC1, MIM: 211600<li>K->N at 814: in dbSNP:rs34018300, MIM: 211600<li>F->S at 853: in PFIC1, MIM: 211600<li>R->C at 867: in ICP, MIM: 147480<li>A->V at 886: in a breast cancer sample; somatic mutation, MIM: 147480<li>G->R at 892: in PFIC1 and BRIC1, MIM: 211600<li>R->Q at 952: in dbSNP:rs12968116, MIM: 211600<li>G->R at 1040: in PFIC1, MIM: 211600<li>A->T at 1152: in dbSNP:rs222581, MIM: 211600<li>I->M at 1178: in a breast cancer sample; somatic mutation, MIM: 211600</ul>							P17237	<li>Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]</li><li>Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]</li><li>Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]</li>	<li>rs2271260</li><li>rs35470719</li><li>rs33963153</li><li>rs12968116</li><li>rs3745079</li><li>rs28939685</li><li>rs28939686</li><li>rs34018300</li><li>rs34315917</li><li>rs3745078</li><li>rs222581</li><li>rs34719006</li><li>rs56355310</li><li>rs34018205</li>	2
O43525	3786	<ul><li>D->G at 305: in EBN2; reduces the maximal heteromeric current by approx. 40% with no alteration in voltage dependence of activation or deactivation kinetics, MIM: 121201<li>W->R at 309: in EBN2, MIM: 121201<li>G->V at 310: in EBN2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2, MIM: 121201<li>E->G at 414: in dbSNP:rs2303995, MIM: 121201<li>N->S at 468: has no statistically significant effect on the current or biophysical properties of the heteromeric channel, MIM: 121201</ul>								Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	rs2303995	2
O43526	3785	<ul><li>R->Q at 207: in MK2; leads to a shift of voltage-dependent activation, MIM: 606437<li>R->W at 207: in EBNMK; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization, MIM: 606437<li>M->V at 208: in EBN1; minor effect on maximal current but clearly exhibits a faster rate of deactivation, MIM: 121200<li>R->W at 214: in EBN1: in dbSNP rsrs28939684, MIM: 121200<li>H->Q at 228: in EBN1, MIM: 121200<li>L->F at 243: in EBN1, MIM: 121200<li>S->W at 247: in EBN1; atypical phenotype; reduces channel currents by more than 50% in homomeric channels, MIM: 121200<li>Y->C at 284: in EBN1; 30%-60% reduction of wt heteromeric current. Ratio 1:1 or 20%-30%; ratio of 1:1:2: in dbSNP rsrs28939683, MIM: 121200<li>A->T at 306: in EBN1; 20%-40% reduction of wt heteromeric current. Ratio of 1:1:2, MIM: 121200<li>R->Q at 333: in EBN1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels, MIM: 121200<li>K->N at 554: in EBN1; atypical phenotype; decreases the voltage-dependence of the channel, MIM: 121200<li>N->T at 780: in dbSNP:rs1801475, MIM: 121200</ul>							<li>P49137</li><li>P63141</li><li>P49138</li><li>P49139</li>	<li>Myokymia isolated type 2 (MK2) [MIM:606437]</li><li>Benign neonatal epilepsy with myokymia (EBNMK) [MIM:606437]</li><li>Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]</li>	<li>rs28939683</li><li>rs28939684</li><li>rs1801475</li>	2
O43529	9486	<ul><li>V->L at 20: in dbSNP:rs35177621<li>D->N at 258: in dbSNP:rs3748932</ul>									<li>rs35177621</li><li>rs3748932</li>	2
O43542	7517	<ul><li>R->H at 94: in dbSNP:rs3212057<li>T->M at 241: associated with cutaneous malignant melanoma; dbSNP:rs861539<li>G->R at 271: in dbSNP:rs28903080<li>R->H at 302: in dbSNP:rs28903081</ul>									<li>rs28903080</li><li>rs3212057</li><li>rs28903081</li><li>rs861539</li>	2
O43543	7516	<ul><li>A->S at 16: in dbSNP:rs4987090<li>R->H at 188: in dbSNP:rs3218536<li>I->T at 221: in dbSNP:rs3218537</ul>									<li>rs4987090</li><li>rs3218536</li><li>rs3218537</li>	2
O43548	9333	<ul><li>P->S at 67<li>T->M at 109<li>G->C at 113: in APSS; completely abolishes the enzyme activity, MIM: 609796<li>A->G at 352: in dbSNP:rs28756768, MIM: 609796<li>V->M at 504: in dbSNP:rs7171797, MIM: 609796<li>Q->R at 521: in dbSNP:rs35985214, MIM: 609796</ul>								Peeling skin syndrome acral type (APSS) [MIM:609796, 270300]	<li>rs28756768</li><li>rs35985214</li><li>rs7171797</li>	2
O43555	2797	<ul><li>A->V at 16: in dbSNP:rs6051545</ul>									rs6051545	2
O43556	8910	<ul><li>L->R at 172: in DYT11, MIM: 159900</ul>								Myoclonus dystonia (MD) [MIM:159900]		2
O43557	8740	<ul><li>S->L at 32: in dbSNP:rs2291667<li>L->V at 120: in dbSNP:rs17851606<li>E->K at 214: in dbSNP:rs344560</ul>									<li>rs344560</li><li>rs17851606</li><li>rs2291667</li>	2
O43559	10817	<ul><li>P->L at 221: in dbSNP:rs3747747</ul>									rs3747747	2
O43572	11216	<ul><li>R->H at 249: in dbSNP:rs2108978<li>I->V at 646: in dbSNP:rs203462</ul>									<li>rs203462</li><li>rs2108978</li>	2
O43581	9066	<ul><li>I->N at 332: in dbSNP:rs407740</ul>									rs407740	2
O43586	9051	<ul><li>Q->H at 48: in dbSNP:rs1141038<li>E->K at 106: in dbSNP:rs1141039<li>Q->H at 146: in dbSNP:rs1141041<li>R->L at 149: in dbSNP:rs1141042<li>A->S at 151: in dbSNP:rs1141043<li>E->D at 155: in dbSNP:rs1141044<li>Q->H at 156: in dbSNP:rs1141045<li>A->T at 230: in PAPAS; severely reduced binding with PTPN12; markedly increased binding to MEFV; accentuates the IL1B secretion: in dbSNP rsrs28939381, MIM: 604416<li>E->Q at 250: in PAPAS; severely reduced binding with PTPN12; markedly increased binding to MEFV; accentuates the IL1B secretion: in dbSNP rsrs28939089, MIM: 604416</ul>	secretion	GO:0046903	binding	GO:0005488			<li>Q28386</li><li>Q8WNR2</li><li>Q2MH07</li><li>Q865X8</li><li>P48090</li><li>O15553</li><li>P26889</li><li>Q9XS77</li><li>P14628</li><li>Q9YGD3</li><li>Q6R2X3</li><li>P41687</li><li>Q05209</li><li>Q9WVG1</li><li>P51493</li><li>P21621</li><li>P79162</li><li>P79182</li><li>P46648</li><li>P09428</li><li>P51745</li><li>Q6PUD2</li><li>Q28292</li><li>P01584</li><li>Q2HZH0</li>	PAPA syndrome (PAPAS) [MIM:604416]	<li>rs1141042</li><li>rs1141043</li><li>rs1141044</li><li>rs1141045</li><li>rs28939381</li><li>rs1141039</li><li>rs1141038</li><li>rs28939089</li><li>rs1141041</li>	2
O43592	11260	<ul><li>A->V at 526: in dbSNP:rs17851795<li>E->D at 716: in dbSNP:rs1051396</ul>									<li>rs17851795</li><li>rs1051396</li>	2
O43593	55806	<ul><li>G->D at 337: in dbSNP:rs12675375<li>R->Q at 620<li>R->Q at 633: in a colorectal cancer sample; somatic mutation<li>P->L at 924: in dbSNP:rs11990421<li>D->N at 1012: in ALUNC; affects binding to thyroid hormone receptor, MIM: 203655<li>T->A at 1022: in ALUNC; dbSNP:rs7014851, MIM: 203655<li>V->D at 1136: in ALUNC, MIM: 203655</ul>			binding	GO:0005488				Alopecia universalis congenita (ALUNC) [MIM:203655]	<li>rs11990421</li><li>rs7014851</li><li>rs12675375</li>	2
O43597	10253	<ul><li>P->S at 106: in dbSNP:rs504122</ul>									rs504122	2
O43602	1641	<ul><li>T->I at 123: in LISX1, MIM: 300067<li>L->S at 124: in LISX1, MIM: 300067<li>S->R at 128: in LISX1 and SBHX, MIM: 300067<li>K->N at 131: in SBHX, MIM: 300067<li>R->H at 140: in SBHX, MIM: 300067<li>R->L at 140: in LISX1 and SBHX, MIM: 300067<li>N->D at 141: in LISX1, MIM: 300067<li>D->N at 143: in LISX1 and SBHX, MIM: 300067<li>G->E at 148: in SBHX, MIM: 300067<li>A->S at 152: in LISX1, MIM: 300067<li>R->H at 159: in SBH, MIM: 300067<li>R->L at 159: in SBHX, MIM: 300067<li>D->H at 167: in SBHX, MIM: 300067<li>R->G at 170: in SBHX; mild, MIM: 300067<li>L->R at 178: in SBHX, MIM: 300067<li>G->A at 181: in LISX1 and SBHX, MIM: 300067<li>R->S at 183: in LISX1, MIM: 300067<li>I->T at 185: in SBHX, MIM: 300067<li>Y->D at 206: in SBHX, MIM: 300067<li>Y->H at 206: in LISX1 and SBHX, MIM: 300067<li>R->C at 259: in SBHX, MIM: 300067<li>R->L at 259: in SBHX, MIM: 300067<li>R->C at 267: in SBHX, MIM: 300067<li>P->L at 272: in SBHX, MIM: 300067<li>P->R at 272: in SBHX, MIM: 300067<li>R->W at 273: in LISX1 and SBHX, MIM: 300067<li>R->H at 277: in LISX1: in dbSNP rsrs56030372, MIM: 300067<li>R->S at 277: in epilepsy; resistant partial seizures; related to 'cryptogenic' epilepsy, MIM: 300067<li>N->I at 281: in SBHX, MIM: 300067<li>N->K at 281: in SBHX, MIM: 300067<li>T->A at 284: in SBHX, MIM: 300067<li>T->R at 284: in LISX1 and SBHX, MIM: 300067<li>I->T at 295: in SBHX, MIM: 300067<li>T->I at 303: in SBHX, MIM: 300067<li>G->E at 304: in SBHX, MIM: 300067<li>G->V at 304: in SBHX, MIM: 300067<li>V->I at 317: in SBHX, MIM: 300067<li>F->L at 324: in LISX1, MIM: 300067<li>I->N at 331: in SBHX, MIM: 300067<li>I->T at 331: in SBHX, MIM: 300067<li>A->S at 332: in SBHX, MIM: 300067<li>A->V at 332: in SBHX, MIM: 300067<li>G->D at 334: in SBHX, MIM: 300067</ul>								<li>Subcortical band heterotopia X-linked (SBHX) [MIM:300067]</li><li>Lissencephaly X-linked type 1 (LISX1) [MIM:300067]</li>	rs56030372	2
O43610	10251	<ul><li>A->T at 161: in dbSNP:rs35474915</ul>									rs35474915	2
O43612	3060	<ul><li>L->R at 16: in narcolepsy; early-onset; impaired trafficking and processing, MIM: 161400</ul>								Narcolepsy [MIM:161400]		2
O43613	3061	<ul><li>G->S at 167<li>R->Q at 279: in dbSNP:rs7516785<li>R->H at 281: in dbSNP:rs41439244<li>I->V at 408: in dbSNP:rs2271933</ul>									<li>rs7516785</li><li>rs41439244</li><li>rs2271933</li>	2
O43614	3062	<ul><li>P->S at 10: in dbSNP:rs41271310<li>P->T at 11: in dbSNP:rs41271312<li>I->V at 293<li>I->V at 308: in dbSNP rsrs2653349</ul>									<li>rs41271310</li><li>rs41271312</li><li>rs2653349</li>	2
O43623	6591	<ul><li>D->E at 119: in NTD</ul>										2
O43638	2307	<ul><li>P->A at 292: in dbSNP:rs2296917</ul>									rs2296917	2
O43653	8000	<ul><li>E->K at 39: in dbSNP:rs3736001</ul>									rs3736001	2
O43657	7105	<ul><li>A->T at 108: in dbSNP:rs1802288</ul>									rs1802288	2
O43663	9055	<ul><li>A->E at 187: in dbSNP:rs7172758<li>Y->C at 511: in dbSNP:rs12911192</ul>									<li>rs7172758</li><li>rs12911192</li>	2
O43665	6001	<ul><li>A->V at 94: in dbSNP:rs1802228</ul>									rs1802228	2
O43670	7756	<ul><li>A->S at 224: in dbSNP:rs3795244</ul>									rs3795244	2
O43674	4711	<ul><li>Y->H at 133: in dbSNP:rs4147793</ul>									rs4147793	2
O43678	4695	<ul><li>D->N at 50: in a breast cancer sample; somatic mutation</ul>										2
O43681	439	<ul><li>N->S at 332: in dbSNP:rs8177499</ul>									rs8177499	2
O43683	699	<ul><li>G->D at 20: in dbSNP rsrs35890336<li>E->D at 36: in colorectal cancer; dbSNP:rs1801328<li>Y->C at 259: in pancreatic cancer; associated with N-265<li>H->N at 265: in pancreatic cancer; associated with C-259<li>S->Y at 492: in colorectal cancer<li>N->D at 534: in dbSNP:rs36109304<li>P->R at 648: in colorectal cancer</ul>									<li>rs1801328</li><li>rs36109304</li><li>rs35890336</li>	2
O43699	946	<ul><li>L->V at 57: in dbSNP:rs2305773<li>L->F at 262: in dbSNP:rs2005199</ul>									<li>rs2005199</li><li>rs2305773</li>	2
O43707	81	<ul><li>K->E at 255: in FSGS1: in dbSNP rsrs28939374, MIM: 603278<li>T->I at 259: in FSGS1: in dbSNP rsrs28939375, MIM: 603278<li>S->P at 262: in FSGS1: in dbSNP rsrs28939376, MIM: 603278</ul>								Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]	<li>rs28939374</li><li>rs28939375</li><li>rs28939376</li>	2
O43708	2954	<ul><li>K->E at 32: in allele GSTZ1*C: in dbSNP rsrs7975<li>R->G at 42: in allele GSTZ1*B and allele GSTZ1*C: in dbSNP rsrs7972<li>T->M at 82: in dbSNP rsrs1046428<li>N->H at 133: in dbSNP:rs2234955</ul>							<li>Q9ZVQ3</li><li>O43708</li><li>O04437</li>		<li>rs7972</li><li>rs1046428</li><li>rs2234955</li><li>rs7975</li>	2
O43716	283459	<ul><li>S->L at 3: in dbSNP:rs17431446</ul>									rs17431446	2
O43719	27336	<ul><li>G->A at 478: in dbSNP:rs2071913<li>N->T at 526: in dbSNP:rs12852634<li>D->G at 678: in dbSNP:rs17339410</ul>									<li>rs17339410</li><li>rs2071913</li><li>rs12852634</li>	2
O43731	11015	<ul><li>V->G at 199: in dbSNP:rs12004</ul>									rs12004	2
O43734	10758	<ul><li>D->N at 19: in dbSNP:rs33980500<li>R->W at 83: in dbSNP:rs13190932<li>Q->H at 332: in dbSNP:rs1043730</ul>									<li>rs1043730</li><li>rs13190932</li><li>rs33980500</li>	2
O43736	9452	<ul><li>A->V at 72: in dbSNP:rs35056863<li>R->T at 230: in dbSNP:rs35629312</ul>									<li>rs35629312</li><li>rs35056863</li>	2
O43745	63928	<ul><li>R->P at 127: in dbSNP:rs35641939</ul>									rs35641939	2
O43747	164	<ul><li>V->G at 195: in dbSNP:rs36037071<li>P->H at 685: in dbSNP:rs904763</ul>									<li>rs904763</li><li>rs36037071</li>	2
O43749	4992	<ul><li>F->S at 75: in dbSNP:rs1834026<li>V->M at 126: in dbSNP:rs8045183</ul>									<li>rs1834026</li><li>rs8045183</li>	2
O43772	788	<ul><li>R->W at 133: in CACT deficiency, MIM: 212138<li>D->H at 231: in CACT deficiency, MIM: 212138<li>Q->R at 238: in CACT deficiency: in dbSNP rsrs28934589, MIM: 212138</ul>							<li>Q8HXY2</li><li>O43772</li>	Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]	rs28934589	2
O43781	8444	<ul><li>M->L at 239</ul>										2
O43790	3892	<ul><li>N->D at 114: in Monilethrix, MIM: 158000<li>N->H at 114: in Monilethrix, MIM: 158000<li>E->K at 402: in Monilethrix, MIM: 158000<li>E->Q at 402: in Monilethrix: in dbSNP rsrs28939669, MIM: 158000<li>E->D at 413: in Monilethrix, MIM: 158000<li>E->K at 413: in Monilethrix, MIM: 158000</ul>								Monilethrix [MIM:158000]	rs28939669	2
O43795	4430	<ul><li>V->G at 385: in a colorectal cancer sample; somatic mutation<li>V->I at 385: in a colorectal cancer sample; somatic mutation<li>E->K at 969: in a melanoma patient</ul>										2
O43805	8636	<ul><li>K->N at 17: in a breast cancer sample; somatic mutation</ul>										2
O43808	10478	<ul><li>H->R at 98: in dbSNP:rs12159334</ul>									rs12159334	2
O43818	9136	<ul><li>R->G at 8: in a breast cancer sample; somatic mutation<li>A->E at 342: in a breast cancer sample; somatic mutation</ul>										2
O43819	9997	<ul><li>R->P at 20: in dbSNP:rs140523<li>E->K at 140: in FIC, MIM: 604377<li>R->W at 171: in FIC: in dbSNP rsrs28937598, MIM: 604377<li>S->F at 225: in FIC, MIM: 604377<li>A->V at 259: in dbSNP:rs8139305, MIM: 604377</ul>								Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377, 220110]	<li>rs8139305</li><li>rs28937598</li><li>rs140523</li>	2
O43820	8372	<ul><li>H->Y at 113: in dbSNP:rs13100173</ul>									rs13100173	2
O43822	755	<ul><li>T->I at 150: in dbSNP:rs2277809<li>G->S at 153: in dbSNP:rs9306099</ul>									<li>rs9306099</li><li>rs2277809</li>	2
O43823	10270	<ul><li>Q->H at 664: in a breast cancer sample; somatic mutation</ul>										2
O43826	2542	<ul><li>G->D at 20: in GSD1B, MIM: 232220<li>Y->H at 24: in GSD1B, MIM: 232220<li>N->K at 27: in GSD1B, MIM: 232220<li>R->C at 28: in GSD1B, MIM: 232220<li>R->H at 28: in GSD1B; inactive glucose-6-phosphate transport, MIM: 232220<li>G->R at 50: in GSD1B, MIM: 232220<li>S->R at 54: in GSD1B, MIM: 232220<li>S->R at 55: in GSD1B, MIM: 232220<li>G->R at 68: in GSD1B, MIM: 232220<li>L->P at 85: in GSD1B, MIM: 232220<li>G->D at 88: in GSD1B, MIM: 232220<li>W->R at 118: in GSD1B, MIM: 232220<li>Q->P at 133: in GSD1C, MIM: 232240<li>G->E at 149: in GSD1B, MIM: 232220<li>G->R at 150: in GSD1B, MIM: 232220<li>P->L at 153: in GSD1B, MIM: 232220<li>C->R at 176: in GSD1B, MIM: 232220<li>C->R at 183: in GSD1B, MIM: 232220<li>P->L at 191: in GSD1B, MIM: 232220<li>N->I at 198: in GSD1B; could be a polymorphism, MIM: 232220<li>L->P at 229: in GSD1B, MIM: 232220<li>Missing  at 235: in GSD1B, MIM: 232220<li>I->N at 278: in GSD1B, MIM: 232220<li>R->H at 300: in GSD1B, MIM: 232220<li>H->P at 301: in GSD1B, MIM: 232220<li>G->C at 339: in GSD1B, MIM: 232220<li>G->D at 339: in GSD1B, MIM: 232220<li>A->T at 367: in GSD1B, MIM: 232220<li>A->D at 373: in GSD1B, MIM: 232220<li>G->S at 376: in GSD1C, MIM: 232240</ul>	glucose-6-phosphate transport	GO:0015760						<li>Glycogen storage disease type 1C (GSD1C) [MIM:232240]</li><li>Glycogen storage disease type 1B (GSD1B) [MIM:232220]</li>		2
O43827	10218	<ul><li>E->D at 51: in dbSNP:rs28990992<li>R->H at 140: in dbSNP rsrs28991002<li>Q->H at 175: in dbSNP rsrs28991009</ul>									<li>rs28990992</li><li>rs28991009</li><li>rs28991002</li>	2
O43829	7541	<ul><li>E->G at 77: in dbSNP:rs7235740<li>Q->R at 139: in dbSNP:rs7235420</ul>									<li>rs7235420</li><li>rs7235740</li>	2
O43837	3420	<ul><li>A->V at 3: in dbSNP:rs3178817<li>L->P at 132: in RP46, MIM: 612572<li>Q->H at 166: in dbSNP:rs11542741, MIM: 612572</ul>								Retinitis pigmentosa type 46 (RP46) [MIM:612572]	<li>rs3178817</li><li>rs11542741</li>	2
O43847	4898	<ul><li>E->EE at 153</ul>										2
O43852	813	<ul><li>R->Q at 4: in dbSNP:rs2290228</ul>									rs2290228	2
O43861	374868	<ul><li>S->G at 39: in dbSNP:rs4078115<li>D->N at 504: in dbSNP:rs36034863<li>M->L at 732: in dbSNP:rs585033</ul>									<li>rs36034863</li><li>rs4078115</li><li>rs585033</li>	2
O43866	922	<ul><li>D->E at 117: in dbSNP:rs11537583</ul>									rs11537583	2
O43868	9153	<ul><li>L->P at 12<li>P->L at 22: in dbSNP:rs11854484<li>S->R at 75: in dbSNP:rs1060896<li>R->H at 142<li>L->W at 163: in dbSNP:rs2271437<li>E->D at 172<li>S->T at 245: in dbSNP:rs10519020<li>F->S at 355: in dbSNP:rs17215633<li>E->K at 385<li>L->F at 462: in dbSNP rsrs17222057<li>G->E at 509: in dbSNP:rs9635306<li>M->T at 612</ul>									<li>rs1060896</li><li>rs9635306</li><li>rs11854484</li><li>rs17222057</li><li>rs17215633</li><li>rs10519020</li><li>rs2271437</li>	2
O43897	7092	<ul><li>L->V at 688: in a breast cancer sample; somatic mutation<li>T->A at 958: in dbSNP:rs2291822</ul>									rs2291822	2
O43900	4007	<ul><li>R->C at 343: in dbSNP:rs7065449<li>E->D at 558: in a breast cancer sample; somatic mutation</ul>									rs7065449	2
O43908	8302	<ul><li>S->I at 29: in allele NKG2-F*02; dbSNP:rs1841958<li>S->N at 104: in allele NKG2-F*02; dbSNP:rs2617170</ul>									<li>rs2617170</li><li>rs1841958</li>	2
O43909	2137	<ul><li>L->P at 706: in dbSNP:rs2269452</ul>									rs2269452	2
O43913	5001	<ul><li>G->R at 37: in dbSNP:rs1056677<li>K->N at 52: in dbSNP:rs2307413<li>R->C at 166: in dbSNP:rs2307402</ul>									<li>rs1056677</li><li>rs2307413</li><li>rs2307402</li>	2
O43914	7305	<ul><li>Y->H at 111: in dbSNP:rs14714</ul>									rs14714	2
O43918	326	<ul><li>R->C at 15: in APECED, MIM: 240300<li>R->L at 15: in APECED; enzymatic activity of approximately 30% of that of the wild-type, MIM: 240300<li>T->M at 16: in APECED; enzymatic activity of approximately 10% of that of the wild-type, MIM: 240300<li>A->V at 21: in APECED, MIM: 240300<li>Missing  at 22-23: in APECED; lack of alpha-galactosidase enzymatic activity; lack of homodimerization, MIM: 240300<li>L->P at 28: in APECED; abolishes association with cytoplasmic tubular structures and homodimerization, MIM: 240300<li>L->P at 29: in APECED, MIM: 240300<li>F->S at 77: in APECED; lack of alpha-galactosidase enzymatic activity; lack of homodimerization, MIM: 240300<li>W->R at 78: in APECED; lack of alpha-galactosidase enzymatic activity; lack of homodimerization, MIM: 240300<li>V->L at 80: in APECED, MIM: 240300<li>K->E at 83: in APECED, MIM: 240300<li>Y->C at 85: in APECED, MIM: 240300<li>Y->C at 90: in APECED, MIM: 240300<li>L->R at 93: in APECED, MIM: 240300<li>G->W at 228: in APECED; changes the subcellular localization and in addition disrupts the transactivating capacity of the wild-type AIRE; acts with a dominant negative effect by binding to the wild-type AIRE thus preventing the protein from forming the complexes needed for transactivation, MIM: 240300<li>P->L at 252: in APECED: in dbSNP rsrs34397615, MIM: 240300<li>S->R at 278: in dbSNP:rs1800520, MIM: 240300<li>V->M at 301: in APECED; no effect on protein structure, MIM: 240300<li>G->S at 305, MIM: 240300<li>C->Y at 311: in APECED; impairs zinc binding and folding of the PHD-type 1 zinc finger, MIM: 240300<li>P->L at 326: in APECED, MIM: 240300<li>P->Q at 326: in APECED; alters folding of the PHD-type 1 zinc finger, MIM: 240300<li>P->L at 539: in APECED, MIM: 240300</ul>	localization	GO:0051179	<li>binding</li><li>zinc binding</li>	<li>GO:0005488</li><li>GO:0008270</li>			<li>Q97U94</li><li>P27756</li><li>O34645</li><li>P20942</li><li>P20941</li><li>O43918</li><li>Q9X4Y0</li><li>P19632</li><li>P41686</li><li>Q9XS39</li><li>P30877</li><li>P06720</li><li>P16551</li><li>O77560</li><li>Q9QW08</li>	Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	<li>rs34397615</li><li>rs1800520</li>	2
O43929	5000	<ul><li>L->V at 56: in dbSNP:rs2307397<li>N->S at 78: in dbSNP:rs2307394</ul>									<li>rs2307397</li><li>rs2307394</li>	2
O43933	5189	<ul><li>Missing  at 634-690: in NALD<li>I->R at 640: in dbSNP:rs4559173<li>L->P at 664: in NALD: in dbSNP rsrs28939678, MIM: 202370<li>I->M at 696: in dbSNP:rs35996821, MIM: 202370<li>G->D at 843: in IRD and NALD, MIM: 266510</ul>								<li>Infantile Refsum disease (IRD) [MIM:266510]</li><li>Adrenoleukodystrophy neonatal (NALD) [MIM:202370]</li>	<li>rs35996821</li><li>rs4559173</li><li>rs28939678</li>	2
O43934	79157	<ul><li>S->F at 428: in dbSNP:rs3198672</ul>									rs3198672	2
O60216	5885	<ul><li>G->R at 481</ul>										2
O60218	57016	<ul><li>P->S at 87: in dbSNP:rs2303312<li>M->T at 286: in dbSNP:rs3735042<li>D->N at 313: in dbSNP:rs4728329</ul>									<li>rs4728329</li><li>rs2303312</li><li>rs3735042</li>	2
O60220	1678	<ul><li>C->W at 66: in MTS; disrupts the assembly of the heterohexamer with TIMM13, MIM: 304700</ul>							<li>Q9JMH3</li><li>Q9Y5L4</li>	Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]		2
O60225	6758	<ul><li>E->Q at 19: in dbSNP:rs4824675</ul>									rs4824675	2
O60229	8997	<ul><li>S->L at 196: in dbSNP rsrs56098940<li>R->W at 213: in a colorectal cancer sample; somatic mutation<li>E->D at 1326: in dbSNP:rs2289838<li>S->C at 1896: in a breast cancer sample; somatic mutation</ul>									<li>rs2289838</li><li>rs56098940</li>	2
O60232	10534	<ul><li>T->M at 21: in dbSNP:rs35971725</ul>									rs35971725	2
O60234	9535	<ul><li>E->K at 122: in dbSNP:rs36110047<li>E->K at 136: in dbSNP:rs34035414</ul>									<li>rs34035414</li><li>rs36110047</li>	2
O60237	4660	<ul><li>V->I at 182: in dbSNP:rs2843414<li>R->K at 836: in dbSNP:rs3881953</ul>									<li>rs3881953</li><li>rs2843414</li>	2
O60242	577	<ul><li>S->N at 503: in dbSNP:rs1932618</ul>									rs1932618	2
O60244	9282	<ul><li>F->L at 1325: in a breast cancer sample; somatic mutation</ul>										2
O60259	11202	<ul><li>V->I at 154: in dbSNP:rs16988799</ul>									rs16988799	2
O60260	5071	<ul><li>V->M at 15: in PD, MIM: 168600<li>R->Q at 33: in PD, MIM: 168600<li>P->L at 37: in PARK2, MIM: 600116<li>R->P at 42: in PD; early-onset; induces a conformational change in the PSMD4-binding site of Ubl resulting in impaired proteasomal binding, MIM: 168600<li>A->P at 46: in PD; early-onset; sporadic, MIM: 168600<li>A->E at 82: in PARK2 and PD: in dbSNP rsrs55774500, MIM: 168600<li>A->V at 92: in PARK2, MIM: 600116<li>Q->H at 100, MIM: 600116<li>K->N at 161: in PARK2 and PD, MIM: 168600<li>S->N at 167: in dbSNP:rs1801474, MIM: 168600<li>M->L at 192: in dbSNP:rs9456735, MIM: 168600<li>M->V at 192: in PD; early and late onset; dbSNP:rs9456735, MIM: 168600<li>K->N at 211: in PD; early and late onset, MIM: 168600<li>K->R at 211: in PD; early onset, MIM: 168600<li>C->Y at 212: in PARK2, MIM: 600116<li>T->M at 240: in PD; late onset, MIM: 168600<li>T->R at 240: in PARK2; impairs the ability to ubiquitinate SNCAIP; loss of UBE2L3 binding, MIM: 600116<li>C->Y at 253: in PD; late onset, MIM: 168600<li>R->C at 256: in PARK2 and PD; early and late onset; impairs the ability to ubiquitinate SNCAIP; dbSNP:rs34424986, MIM: 168600<li>R->S at 271, MIM: 168600<li>R->W at 275: in PARK2 and PD; early and late onset; impairs the ability to ubiquitinate SNCAIP: in dbSNP rsrs34424986, MIM: 168600<li>D->N at 280: in PD, MIM: 168600<li>G->R at 284: in PARK2, MIM: 600116<li>C->G at 289: in PD; fails to ubiquitinate SYT11; loses ability to bind SYT11: in dbSNP rsrs55961220, MIM: 168600<li>G->E at 328: in PD, MIM: 168600<li>R->C at 334: in PD, MIM: 168600<li>A->S at 339, MIM: 168600<li>T->P at 351: in PARK2; impairs folding of IBR domain, MIM: 600116<li>R->W at 366: in dbSNP rsrs56092260, MIM: 600116<li>V->L at 380: in dbSNP:rs1801582, MIM: 600116<li>D->N at 394: in dbSNP:rs1801334, MIM: 600116<li>T->N at 415: in PARK2 and PD; impairs the ability to ubiquitinate SNCAIP; does not affect turnover of CDCRE1, MIM: 168600<li>G->D at 430: in PD; early onset, MIM: 168600<li>C->F at 431: in PARK2, MIM: 600116<li>P->L at 437: in PD; early and late onset, MIM: 168600<li>C->R at 441: in PD, MIM: 168600</ul>			binding	GO:0005488			<li>Q3MHP1</li><li>P68036</li><li>Q9Y6H5</li><li>O60260</li><li>Q9BT88</li><li>P55036</li><li>Q58DA0</li>	<li>Parkinson disease (PD) [MIM:168600]</li><li>Autosomal recessive early onset Parkinson disease 2 (PARK2) [MIM:600116]</li>	<li>rs34424986</li><li>rs1801334</li><li>rs55961220</li><li>rs1801582</li><li>rs1801474</li><li>rs9456735</li><li>rs55774500</li><li>rs56092260</li>	2
O60266	109	<ul><li>S->P at 107: in dbSNP:rs11676272</ul>									rs11676272	2
O60268	9764	<ul><li>R->H at 100: in dbSNP:rs4783121</ul>									rs4783121	2
O60269	9721	<ul><li>L->V at 39: in dbSNP:rs4926045<li>S->G at 104: in dbSNP:rs3127679</ul>									<li>rs3127679</li><li>rs4926045</li>	2
O60279	26032	<ul><li>F->L at 40: in dbSNP:rs9637517<li>L->F at 52: in dbSNP:rs9637517<li>R->K at 216: in dbSNP:rs9872477<li>R->K at 228: in dbSNP:rs9872477<li>E->D at 378: in dbSNP:rs6810039<li>E->D at 390: in dbSNP:rs6810039</ul>									<li>rs9872477</li><li>rs6810039</li><li>rs9637517</li>	2
O60284	9705	<ul><li>R->C at 515: in dbSNP:rs2303460</ul>									rs2303460	2
O60285	9891	<ul><li>G->D at 419: in dbSNP rsrs55774704<li>P->R at 543: in dbSNP:rs3741883</ul>									<li>rs3741883</li><li>rs55774704</li>	2
O60290	643641	<ul><li>I->T at 178: in dbSNP:rs3735328</ul>									rs3735328	2
O60292	23094	<ul><li>G->S at 1371: in dbSNP:rs2304133<li>P->A at 1450: in dbSNP:rs3745945</ul>									<li>rs2304133</li><li>rs3745945</li>	2
O60293	196441	<ul><li>E->K at 1006: in dbSNP:rs1011332<li>K->R at 1807: in dbSNP:rs11541286</ul>									<li>rs1011332</li><li>rs11541286</li>	2
O60294	9836	<ul><li>V->L at 67: in dbSNP:rs45552436<li>R->S at 141: in dbSNP:rs3742970<li>C->Y at 149: in dbSNP rsrs45593931<li>T->A at 518: in dbSNP rsrs45530831</ul>									<li>rs45552436</li><li>rs45530831</li><li>rs45593931</li><li>rs3742970</li>	2
O60296	66008	<ul><li>V->I at 142: in dbSNP:rs13022344<li>T->I at 528: in dbSNP:rs2244438<li>I->N at 863: in dbSNP:rs34594680</ul>									<li>rs34594680</li><li>rs13022344</li><li>rs2244438</li>	2
O60303	23247	<ul><li>T->M at 522: in dbSNP:rs12930355<li>A->S at 535: in dbSNP:rs11643103<li>R->Q at 885: in dbSNP:rs16976970<li>T->A at 1267: in dbSNP:rs4787984<li>R->Q at 1368: in dbSNP:rs11644502<li>V->I at 1597: in dbSNP:rs2287790</ul>									<li>rs4787984</li><li>rs16976970</li><li>rs2287790</li><li>rs11644502</li><li>rs12930355</li><li>rs11643103</li>	2
O60307	23031	<ul><li>R->Q at 203: in dbSNP:rs35945810<li>G->S at 861: in dbSNP:rs8108738<li>G->S at 883</ul>									<li>rs8108738</li><li>rs35945810</li>	2
O60308	9731	<ul><li>L->I at 414: in dbSNP:rs2275824<li>A->V at 686: in dbSNP:rs2275831</ul>									<li>rs2275831</li><li>rs2275824</li>	2
O60309	374819	<ul><li>K->E at 1215: in dbSNP:rs9893710</ul>									rs9893710	2
O60312	57194	<ul><li>S->Y at 353: in dbSNP:rs17116056<li>T->M at 532: in dbSNP:rs2066703<li>A->T at 784: in dbSNP:rs2066704<li>E->K at 834: in dbSNP:rs17555920<li>W->C at 1172: in dbSNP:rs2076742<li>A->T at 1179: in dbSNP:rs2076744<li>I->V at 1188: in dbSNP:rs2076745<li>V->M at 1198: in dbSNP:rs2076746<li>R->S at 1298: in dbSNP:rs3816800<li>A->V at 1397: in dbSNP:rs9324127</ul>									<li>rs2076744</li><li>rs17555920</li><li>rs2066704</li><li>rs17116056</li><li>rs2076746</li><li>rs2076745</li><li>rs3816800</li><li>rs2066703</li><li>rs9324127</li><li>rs2076742</li>	2
O60313	4976	<ul><li>Missing  at 38-43: in OPA1<li>S->N at 158: in dbSNP:rs7624750<li>P->L at 167<li>A->V at 192: in dbSNP:rs34307082<li>R->Q at 290: in OPA1, MIM: 165500<li>G->E at 300: in OPA1: in dbSNP rsrs28939082, MIM: 165500<li>L->R at 396: in OPA1, MIM: 165500<li>Missing  at 432: in OPA1, MIM: 165500<li>R->H at 445: in OPA1 and optic atrophy with deafness, MIM: 165500<li>T->K at 503: in OPA1, MIM: 165500<li>S->R at 545: in OPA1, MIM: 165500<li>R->H at 571: in OPA1, MIM: 165500<li>Missing  at 586-589: in OPA1, MIM: 165500<li>L->P at 939: in OPA1, MIM: 165500</ul>							<li>Q5RAM3</li><li>O93248</li><li>Q5F499</li><li>O60313</li>	Optic atrophy type 1 (OPA1) [MIM:165500]	<li>rs34307082</li><li>rs28939082</li><li>rs7624750</li>	2
O60315	9839	<ul><li>Missing  at 99: in Hirschsprung disease; atypical form; late infantile<li>R->G at 953: in Hirschsprung disease, MIM: 235730<li>D->N at 983: in a colorectal cancer sample; somatic mutation, MIM: 235730<li>Q->R at 1119: in Hirschsprung disease, MIM: 235730</ul>								Hirschsprung disease-mental retardation syndrome (Hirschsprung disease) [MIM:235730]		2
O60318	8888	<ul><li>S->L at 102: in dbSNP:rs9975588<li>M->V at 288: in dbSNP:rs17182545<li>R->L at 333: in dbSNP:rs17182552<li>L->V at 409: in a colorectal cancer sample; somatic mutation<li>P->L at 413: in dbSNP:rs17182566<li>P->L at 1051: in dbSNP:rs17182850<li>V->M at 1062: in dbSNP:rs17182857<li>R->W at 1314: in dbSNP:rs17176709<li>D->E at 1449: in dbSNP:rs17183220<li>V->I at 1576: in dbSNP:rs17183248<li>A->T at 1795: in dbSNP:rs17183290<li>R->C at 1831: in dbSNP:rs2298697<li>L->R at 1870: in dbSNP:rs17176933<li>A->V at 1941: in dbSNP:rs17183403</ul>									<li>rs2298697</li><li>rs17182857</li><li>rs17183220</li><li>rs17176933</li><li>rs17182566</li><li>rs17182545</li><li>rs17183248</li><li>rs9975588</li><li>rs17182552</li><li>rs17183403</li><li>rs17183290</li><li>rs17182850</li><li>rs17176709</li>	2
O60320		<ul><li>G->D at 276: in dbSNP:rs2306933<li>R->H at 375: in dbSNP:rs2256277<li>H->R at 393: in dbSNP:rs2256273</ul>									<li>rs2256277</li><li>rs2256273</li><li>rs2306933</li>	2
O60331	23396	<ul><li>D->N at 253: in LCCS3; loss of activity, MIM: 611369</ul>								Lethal congenital contractural syndrome type 3 (LCCS3) [MIM:611369]		2
O60333	23095	<ul><li>Q->L at 98: in CMT2A1, MIM: 118210</ul>								Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]		2
O60336	23005	<ul><li>Y->S at 204: in dbSNP:rs4354909<li>L->V at 313: in dbSNP:rs1201689<li>R->P at 1240: in dbSNP:rs3959569</ul>									<li>rs4354909</li><li>rs1201689</li><li>rs3959569</li>	2
O60337	10299	<ul><li>P->L at 622: in dbSNP:rs1062914</ul>									rs1062914	2
O60343	9882	<ul><li>T->M at 1147: in dbSNP:rs9600455<li>V->A at 1275: in dbSNP:rs557337<li>L->I at 1284: in dbSNP:rs11616741</ul>									<li>rs9600455</li><li>rs11616741</li><li>rs557337</li>	2
O60344	9718	<ul><li>H->Y at 101: in dbSNP:rs7633387<li>R->Q at 571: in dbSNP:rs35875049</ul>									<li>rs7633387</li><li>rs35875049</li>	2
O60353	8323	<ul><li>M->V at 33: in dbSNP:rs827528<li>M->L at 345: in dbSNP:rs3808553<li>A->E at 664: in dbSNP:rs12549394</ul>									<li>rs12549394</li><li>rs827528</li><li>rs3808553</li>	2
O60391	116444	<ul><li>T->M at 157: in dbSNP:rs2240154<li>R->W at 404: in dbSNP:rs4807399<li>W->R at 414: in dbSNP:rs2240157<li>T->M at 577: in dbSNP:rs2240158<li>A->T at 845: in dbSNP:rs2285906</ul>									<li>rs2240154</li><li>rs2285906</li><li>rs2240158</li><li>rs2240157</li><li>rs4807399</li>	2
O60393		<ul><li>R->H at 355: in POF5, MIM: 611548<li>R->Q at 360, MIM: 611548<li>D->N at 452, MIM: 611548<li>G->S at 482: in dbSNP:rs2525702, MIM: 611548<li>F->L at 517: in dbSNP:rs2699503, MIM: 611548</ul>								Premature ovarian failure type 5 (POF5) [MIM:611548]	<li>rs2525702</li><li>rs2699503</li>	2
O60403	26538	<ul><li>S->F at 171: in dbSNP:rs1806931</ul>									rs1806931	2
O60404	26532	<ul><li>R->S at 7: in dbSNP:rs1966357<li>L->I at 14: in dbSNP:rs2240227<li>R->H at 54: in dbSNP:rs11670007<li>V->M at 224: in dbSNP:rs2240228<li>S->N at 293: in dbSNP:rs2240229</ul>									<li>rs11670007</li><li>rs2240228</li><li>rs2240227</li><li>rs1966357</li><li>rs2240229</li>	2
O60412	26658	<ul><li>T->M at 118: in dbSNP:rs8113325<li>R->H at 122: in dbSNP:rs11883178</ul>									<li>rs11883178</li><li>rs8113325</li>	2
O60427	3992	<ul><li>P->S at 272: in dbSNP:rs17856235</ul>									rs17856235	2
O60431	126370	<ul><li>P->R at 139: in dbSNP:rs8104843<li>F->L at 211: in dbSNP:rs8108721<li>Y->S at 252: in dbSNP:rs8105737<li>I->T at 292: in dbSNP:rs16980312</ul>									<li>rs8108721</li><li>rs8105737</li><li>rs8104843</li><li>rs16980312</li>	2
O60443	1687	<ul><li>P->T at 142: in dbSNP:rs754554<li>M->T at 174: in dbSNP:rs876306<li>V->M at 207: in dbSNP:rs12540919</ul>									<li>rs876306</li><li>rs12540919</li><li>rs754554</li>	2
O60447	7813	<ul><li>D->V at 82: in dbSNP:rs1064580<li>V->I at 336: in dbSNP:rs2391199<li>Q->H at 612: in dbSNP:rs11808092</ul>									<li>rs11808092</li><li>rs1064580</li><li>rs2391199</li>	2
O60449	4065	<ul><li>E->D at 268: in dbSNP:rs2271381<li>K->M at 486: in dbSNP:rs2729709<li>D->N at 692: in dbSNP:rs1397706<li>D->E at 807: in dbSNP:rs3951216<li>D->A at 884: in dbSNP:rs3815875<li>T->S at 1202: in dbSNP:rs2303549<li>N->K at 1321: in dbSNP:rs12692566<li>K->R at 1347: in dbSNP:rs17827158<li>Y->H at 1391: in dbSNP:rs2059696</ul>									<li>rs3951216</li><li>rs2059696</li><li>rs12692566</li><li>rs17827158</li><li>rs3815875</li><li>rs2271381</li><li>rs2303549</li><li>rs1397706</li><li>rs2729709</li>	2
O60462		<ul><li>R->K at 123: in dbSNP:rs849541</ul>									rs849541	2
O60469	1826	<ul><li>D->E at 232: in dbSNP:rs2297270</ul>									rs2297270	2
O60477	1620	<ul><li>S->R at 347: common polymorphism<li>R->H at 358: common polymorphism; dbSNP:rs17476783<li>A->T at 437: in dbSNP:rs1043377<li>P->T at 712: in a colorectal cancer sample; somatic mutation</ul>									<li>rs1043377</li><li>rs17476783</li>	2
O60481	7547	<ul><li>P->A at 217: in heart disease; with non-congenital heterotaxy<li>C->S at 253: in HTX1, MIM: 306955<li>W->G at 255: in HTX1; decreased protein expression, decreased transcriptional activity and decreased nuclear localization, MIM: 306955<li>H->R at 286: in HTX1, MIM: 306955<li>T->M at 323: in HTX1, MIM: 306955<li>K->E at 405: in HTX1, MIM: 306955</ul>	localization	GO:0051179						X-linked visceral heterotaxy (HTX1) [MIM:306955]		2
O60486	10154	<ul><li>E->K at 1499: in dbSNP:rs11107500</ul>									rs11107500	2
O60488	2182	<ul><li>R->C at 133: in a colorectal cancer sample; somatic mutation<li>R->S at 570: in MRX63, MIM: 300387</ul>								Mental retardation X-linked type 63 (MRX63) [MIM:300387]		2
O60494	8029	<ul><li>G->R at 66: in dbSNP:rs12259370<li>F->I at 124: in dbSNP:rs1801220<li>S->F at 253: in dbSNP:rs1801222<li>P->T at 389: in dbSNP:rs1801224<li>I->M at 504: in dbSNP:rs2228053<li>H->Y at 730: in dbSNP:rs7905349<li>H->Q at 786: in a breast cancer sample; somatic mutation<li>L->V at 969: in dbSNP:rs11254354<li>Y->H at 1032: in dbSNP:rs1801227<li>P->L at 1297: in MGA1; decreases strongly the GIF binding affinity: in dbSNP rsrs28939699, MIM: 261100<li>N->Y at 1545, MIM: 261100<li>P->S at 1559: in dbSNP:rs1801231, MIM: 261100<li>V->I at 1769, MIM: 261100<li>R->W at 1775: in dbSNP:rs1276708, MIM: 261100<li>G->S at 1840: in dbSNP:rs2271462, MIM: 261100<li>S->G at 1935: in dbSNP:rs41289305, MIM: 261100<li>P->T at 1971: in dbSNP:rs2356590, MIM: 261100<li>L->F at 2153, MIM: 261100<li>C->Y at 2162: in dbSNP:rs1276712, MIM: 261100<li>A->V at 2252: in a colorectal cancer sample; somatic mutation, MIM: 261100<li>F->C at 2263: in dbSNP:rs2271460, MIM: 261100<li>R->Q at 2444: in dbSNP:rs11254274, MIM: 261100<li>P->R at 2575: in dbSNP:rs3740168, MIM: 261100<li>G->R at 2691: in dbSNP:rs1801237, MIM: 261100<li>S->W at 2717: in dbSNP:rs2796835, MIM: 261100<li>L->I at 2879: in dbSNP:rs45474496, MIM: 261100<li>A->V at 2914: in a breast cancer sample; somatic mutation; dbSNP:rs45551835, MIM: 261100<li>E->Q at 2968: in dbSNP:rs45569534, MIM: 261100<li>I->V at 2984: in dbSNP:rs1801239, MIM: 261100<li>E->G at 3002: in dbSNP:rs1801240, MIM: 261100<li>I->V at 3189: in a breast cancer sample; somatic mutation, MIM: 261100<li>T->I at 3422: in dbSNP rsrs1801230, MIM: 261100<li>N->K at 3552: in dbSNP:rs1801232, MIM: 261100</ul>			binding	GO:0005488			<li>Q5XWD5</li><li>P14174</li><li>P27352</li><li>P53050</li><li>P80928</li><li>P37359</li><li>P34884</li><li>Q2PS21</li><li>P25713</li><li>P37360</li><li>P37361</li><li>P28184</li><li>P55944</li>	Recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]	<li>rs2796835</li><li>rs1801220</li><li>rs12259370</li><li>rs1801240</li><li>rs11254274</li><li>rs1801227</li><li>rs11254354</li><li>rs1801222</li><li>rs2228053</li><li>rs1801224</li><li>rs7905349</li><li>rs2356590</li><li>rs45569534</li><li>rs41289305</li><li>rs1276708</li><li>rs28939699</li><li>rs1801230</li><li>rs1801231</li><li>rs45474496</li><li>rs1801232</li><li>rs1801239</li><li>rs1801237</li><li>rs1276712</li><li>rs3740168</li><li>rs45551835</li><li>rs2271462</li><li>rs2271460</li>	2
O60496	9046	<ul><li>A->P at 152: in dbSNP:rs1140295<li>P->L at 274: in dbSNP:rs34215892<li>S->A at 394: in dbSNP:rs2242241</ul>									<li>rs2242241</li><li>rs34215892</li><li>rs1140295</li>	2
O60500	4868	<ul><li>W->S at 64: in CNF<li>E->K at 117: in dbSNP:rs3814995<li>I->N at 171: in CNF<li>Missing  at 172: in CNF<li>I->N at 173: in CNF<li>TPR->I at 205-207: in CNF<li>T->A at 233: in dbSNP:rs35238405<li>G->C at 270: in CNF<li>S->P at 350: in CNF<li>S->R at 366: in CNF<li>R->C at 367: in CNF<li>P->S at 368: in CNF<li>L->V at 376: in CNF<li>L->P at 392: in dbSNP:rs34320609<li>R->Q at 408: in CNF; could be a polymorphism; dbSNP:rs33950747<li>E->K at 447: in CNF: in dbSNP rsrs28939695<li>C->Y at 465: in CNF<li>C->F at 528: in CNF<li>L->Q at 610: in CNF<li>C->F at 623: in CNF<li>S->C at 724: in CNF<li>R->C at 743: in CNF<li>R->P at 802: in CNF<li>R->W at 802: in CNF<li>A->D at 806: in CNF<li>D->V at 819: in CNF<li>R->C at 831: in CNF<li>V->L at 991: in dbSNP:rs34736717<li>N->S at 1077: in dbSNP:rs4806213<li>R->C at 1140: in CNF</ul>							Q02011		<li>rs35238405</li><li>rs34320609</li><li>rs33950747</li><li>rs3814995</li><li>rs28939695</li><li>rs4806213</li><li>rs34736717</li>	2
O60502	10724	<ul><li>G->E at 46: in dbSNP:rs3740421<li>E->K at 602: in dbSNP:rs17853930</ul>									<li>rs3740421</li><li>rs17853930</li>	2
O60503	115	<ul><li>I->M at 772: in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta-adregnergic receptor by the agonists Mn: in dbSNP rsrs2230739</ul>							<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>Q9WXC3</li><li>Q99279</li><li>P0A1A7</li><li>P0A1A8</li><li>Q05766</li><li>Q57506</li><li>P40134</li><li>Q99280</li><li>P40135</li><li>Q26896</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P40136</li><li>P26338</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>P15318</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q26721</li><li>Q25263</li><li>Q01631</li><li>Q99396</li><li>Q27675</li>		rs2230739	2
O60513	8702	<ul><li>Q->E at 116: in dbSNP:rs3764779</ul>									rs3764779	2
O60522	221400	<ul><li>R->Q at 192: in dbSNP:rs7750596<li>T->A at 398: in dbSNP:rs3799277<li>I->M at 795: in dbSNP:rs9463234<li>Q->E at 1014: in dbSNP:rs9381472</ul>									<li>rs9463234</li><li>rs7750596</li><li>rs3799277</li><li>rs9381472</li>	2
O60524	9147	<ul><li>C->S at 257: in dbSNP:rs3100906</ul>									rs3100906	2
O60543	1149	<ul><li>V->F at 115: in dbSNP:rs45619832</ul>									rs45619832	2
O60563	904	<ul><li>H->R at 362: in dbSNP:rs17123261</ul>									rs17123261	2
O60566	701	<ul><li>M->T at 15: in a colorectal cancer cell line<li>R->Q at 36: in PCS, MIM: 176430<li>T->M at 40: in dbSNP rsrs56079734, MIM: 176430<li>R->Q at 349: in dbSNP:rs1801376, MIM: 176430<li>P->S at 378: in dbSNP:rs17851677, MIM: 176430<li>E->D at 390: in dbSNP:rs1017842, MIM: 176430<li>R->Q at 550: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989187, MIM: 257300<li>V->A at 618: in colorectal cancer; dbSNP:rs1801528, MIM: 257300<li>R->H at 814: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989182, MIM: 257300<li>L->F at 844: in MVA; associated with H-921; heterozygous compound with nonsense mutation; dbSNP:rs28989181, MIM: 257300<li>I->T at 909: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989184, MIM: 257300<li>Q->H at 921: in MVA; associated with F-844; heterozygous compound with nonsense mutation; dbSNP:rs28989183, MIM: 257300<li>L->P at 1012: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989185, MIM: 257300</ul>								<li>Premature chromatid separation trait (PCS) [MIM:176430]</li><li>Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]</li>	<li>rs1017842</li><li>rs56079734</li><li>rs17851677</li><li>rs28989181</li><li>rs28989182</li><li>rs28989183</li><li>rs1801528</li><li>rs28989184</li><li>rs28989185</li><li>rs28989187</li><li>rs1801376</li>	2
O60568	8985	<ul><li>A->V at 151: in dbSNP:rs35627324<li>N->S at 223: in LH3 deficiency, MIM: 612394<li>R->W at 286: in dbSNP:rs1134907, MIM: 612394</ul>							<li>Q5R6K5</li><li>Q9R0E1</li><li>Q5U367</li><li>O60568</li>	Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]	<li>rs1134907</li><li>rs35627324</li>	2
O60575	27290	<ul><li>V->I at 7: in dbSNP:rs706107</ul>									rs706107	2
O60602	7100	<ul><li>T->I at 82: in dbSNP:rs764535<li>P->A at 112: in dbSNP:rs5744166<li>Missing  at 392-858: in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1<li>N->S at 592: in dbSNP:rs2072493<li>F->L at 616: in dbSNP:rs5744174<li>F->L at 822: in dbSNP:rs7512943</ul>							<li>Q06971</li><li>Q06972</li><li>Q06973</li><li>Q56826</li><li>Q06974</li><li>Q92DW3</li><li>Q06970</li><li>P46210</li><li>O67803</li><li>Q06064</li><li>P04949</li><li>Q05203</li><li>P11089</li><li>P02968</li><li>P80583</li><li>Q06969</li><li>Q06968</li><li>P53606</li><li>Q06982</li><li>Q06983</li><li>Q06981</li><li>P06177</li><li>P06176</li><li>P13713</li><li>P06175</li><li>P06179</li><li>P06178</li><li>Q08860</li><li>P35633</li><li>P83150</li><li>P35634</li><li>Q02551</li>		<li>rs7512943</li><li>rs5744166</li><li>rs5744174</li><li>rs764535</li><li>rs2072493</li>	2
O60603	7097	<ul><li>T->I at 411: in dbSNP:rs5743699<li>R->H at 579: in dbSNP:rs5743703<li>P->H at 631: in dbSNP:rs5743704<li>R->W at 677<li>Y->N at 715: in dbSNP:rs5743706<li>R->Q at 753: in dbSNP:rs5743708</ul>									<li>rs5743699</li><li>rs5743708</li><li>rs5743706</li><li>rs5743704</li><li>rs5743703</li>	2
O60635	10103	<ul><li>S->F at 38: in dbSNP:rs2234267<li>V->M at 87: in dbSNP:rs2234268</ul>									<li>rs2234267</li><li>rs2234268</li>	2
O60636	10100	<ul><li>R->L at 118: in dbSNP:rs9659602</ul>									rs9659602	2
O60656	54600	<ul><li>S->I at 442: in a breast cancer sample; somatic mutation</ul>										2
O60662	10324	<ul><li>A->T at 271: in dbSNP:rs28763868<li>M->V at 481: in dbSNP:rs34623017</ul>									<li>rs34623017</li><li>rs28763868</li>	2
O60663	4010	<ul><li>C->R at 36: in NPS, MIM: 161200<li>C->S at 36: in NPS, MIM: 161200<li>S->F at 52: in dbSNP:rs2235058, MIM: 161200<li>H->N at 54: in NPS, MIM: 161200<li>H->Q at 54: in NPS, MIM: 161200<li>H->Y at 54: in NPS, MIM: 161200<li>C->R at 57: in NPS, MIM: 161200<li>L->W at 58: in NPS, MIM: 161200<li>C->F at 60: in NPS, MIM: 161200<li>C->G at 60: in NPS, MIM: 161200<li>C->W at 60: in NPS, MIM: 161200<li>C->Y at 60: in NPS, MIM: 161200<li>C->R at 63: in NPS, MIM: 161200<li>C->W at 80: in NPS, MIM: 161200<li>D->G at 83: in NPS, MIM: 161200<li>C->F at 95: in NPS, MIM: 161200<li>C->Y at 95: in NPS, MIM: 161200<li>H->Y at 114: in NPS, MIM: 161200<li>C->Y at 117: in NPS, MIM: 161200<li>C->S at 120: in NPS, MIM: 161200<li>C->F at 123: in NPS, MIM: 161200<li>C->Y at 123: in NPS, MIM: 161200<li>C->W at 142: in NPS, MIM: 161200<li>R->Q at 200: in NPS: in dbSNP rsrs28939692, MIM: 161200<li>A->P at 213: in NPS, MIM: 161200<li>S->P at 218: in NPS, MIM: 161200<li>R->P at 226: in NPS, MIM: 161200<li>L->P at 229: in NPS, MIM: 161200<li>A->V at 230: in NPS, MIM: 161200<li>W->C at 243: in NPS, MIM: 161200<li>N->K at 246: in NPS, MIM: 161200</ul>							<li>P0C0P6</li><li>P0C0P5</li>	Nail-patella syndrome (NPS) [MIM:161200]	<li>rs2235058</li><li>rs28939692</li>	2
O60664	10226	<ul><li>I->V at 56: in dbSNP:rs8289<li>A->V at 275: in dbSNP:rs9973235</ul>									<li>rs8289</li><li>rs9973235</li>	2
O60669		<ul><li>S->T at 445: in dbSNP:rs3763980</ul>									rs3763980	2
O60671	5810	<ul><li>A->G at 33: in dbSNP:rs2308951<li>T->S at 104: in dbSNP:rs1805328<li>G->D at 114: in dbSNP:rs2308957<li>E->G at 281: in dbSNP:rs1805327</ul>									<li>rs1805327</li><li>rs2308951</li><li>rs1805328</li><li>rs2308957</li>	2
O60673	5980	<ul><li>Q->H at 231: in dbSNP rsrs1053911<li>S->T at 389<li>Q->P at 397: in dbSNP:rs3218579<li>S->G at 633: in dbSNP:rs3218598<li>M->T at 693: in dbSNP:rs3218593<li>R->Q at 962: in dbSNP rsrs17539588<li>Y->C at 1156: in dbSNP:rs458017<li>S->L at 1220: in dbSNP:rs3218600<li>T->I at 1224: in dbSNP:rs462779<li>T->P at 1284: in dbSNP:rs3218578<li>S->T at 1302: in dbSNP:rs3218597<li>Q->H at 1309: in dbSNP:rs3218595<li>P->T at 1339: in dbSNP rsrs17539616<li>Q->P at 1469: in dbSNP:rs3218572<li>K->E at 1540: in dbSNP:rs1053913<li>S->L at 1576: in dbSNP:rs3218582<li>D->N at 1713: in dbSNP:rs3218585<li>S->T at 1724: in dbSNP rsrs17539644<li>P->S at 1791: in dbSNP:rs17539651<li>D->H at 1812: in dbSNP:rs3218599<li>G->R at 1923: in dbSNP:rs3218604<li>R->H at 1970: in dbSNP:rs3218606<li>E->V at 2015: in dbSNP:rs17539692<li>I->M at 2075: in dbSNP rsrs17510963<li>S->T at 2607<li>R->Q at 2762: in dbSNP:rs3218592<li>V->I at 3064: in dbSNP:rs3204953</ul>									<li>rs3218600</li><li>rs17539651</li><li>rs3218599</li><li>rs17539692</li><li>rs3218597</li><li>rs17539644</li><li>rs3204953</li><li>rs3218598</li><li>rs3218595</li><li>rs3218593</li><li>rs3218606</li><li>rs3218592</li><li>rs458017</li><li>rs3218604</li><li>rs462779</li><li>rs3218578</li><li>rs3218572</li><li>rs17539616</li><li>rs3218579</li><li>rs3218582</li><li>rs17510963</li><li>rs3218585</li><li>rs1053911</li><li>rs1053913</li><li>rs17539588</li>	2
O60674	3717	<ul><li>G->D at 127: in dbSNP rsrs56118985<li>K->Q at 191: in an ovarian serous carcinoma sample; somatic mutation<li>K->R at 346: in dbSNP rsrs55667734<li>A->E at 377: in dbSNP rsrs55953208<li>L->V at 393: in dbSNP:rs2230723<li>FHK->L at 537-539: in myeloproliferative disorder with erythrocytosis<li>HK->QL at 538-539: in myeloproliferative disorder with erythrocytosis<li>K->L at 539: in myeloproliferative disorder with erythrocytosis; requires 2 nucleotide substitutions<li>D->E at 584: in dbSNP:rs17490221<li>K->N at 607: in AML, MIM: 601626<li>V->F at 617: in PV and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity, MIM: 263300<li>R->H at 1063: in dbSNP:rs41316003, MIM: 263300</ul>	phosphorylation	GO:0016310					<li>P60168</li><li>Q9EMA9</li><li>P60167</li><li>P60169</li><li>P03422</li><li>P23055</li><li>Q00793</li><li>P19847</li><li>Q06427</li><li>Q06428</li><li>Q03335</li><li>P60166</li><li>P36315</li><li>P19717</li><li>P26033</li><li>P33483</li><li>Q03340</li><li>Q9WS39</li><li>P26036</li><li>P22044</li><li>P35939</li><li>P35974</li><li>Q9IC37</li><li>Q86606</li><li>P06940</li><li>P21740</li><li>P16595</li><li>P30928</li><li>P30927</li><li>P23056</li><li>Q9QM81</li><li>P11208</li><li>P23057</li><li>P11207</li><li>P35945</li><li>P35941</li><li>P21738</li><li>P21739</li><li>P16072</li>	<li>Polycythemia vera (PV) [MIM:263300]</li><li>Acute myelogenous leukemia (AML) [MIM:601626]</li>	<li>rs55953208</li><li>rs55667734</li><li>rs17490221</li><li>rs2230723</li><li>rs56118985</li><li>rs41316003</li>	2
O60676	10047	<ul><li>A->P at 142: in dbSNP:rs1054633</ul>									rs1054633	2
O60678	10196	<ul><li>L->V at 440: in dbSNP:rs3758805<li>S->C at 470: in dbSNP:rs11025585<li>N->S at 508: in dbSNP:rs6483700</ul>									<li>rs11025585</li><li>rs3758805</li><li>rs6483700</li>	2
O60683	5192	<ul><li>H->Q at 290: in NALD, MIM: 202370</ul>								Adrenoleukodystrophy neonatal (NALD) [MIM:202370]		2
O60687	27286	<ul><li>Y->S at 72: in BPP; affects intracellular processing, MIM: 300388<li>T->S at 287: in dbSNP:rs17851822, MIM: 300388<li>N->S at 327: in RESDX; results in a gain of glycosylation; affects intracellular processing, MIM: 300643</ul>					intracellular	GO:0005622	P08318	<li>X-linked rolandic epilepsy with speech dyspraxia and mental retardation (RESDX) [MIM:300643]</li><li>Bilateral perisylvian polymicrogyria (BPP) [MIM:300388]</li>	rs17851822	2
O60706	10060	<ul><li>P->S at 1108: in dbSNP:rs35404804<li>A->T at 1513: in CMD1O, MIM: 608569</ul>								Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	rs35404804	2
O60711	9404	<ul><li>P->T at 148: in dbSNP:rs12271558</ul>									rs12271558	2
O60716	1500	<ul><li>S->F at 171: in dbSNP:rs11229133<li>Y->C at 217: in dbSNP:rs11570194<li>R->C at 464: in dbSNP:rs11570199<li>R->K at 915: in dbSNP:rs11570222</ul>									<li>rs11570199</li><li>rs11229133</li><li>rs11570194</li><li>rs11570222</li>	2
O60721	9187	<ul><li>T->S at 37: in dbSNP:rs3743171<li>V->L at 311: in dbSNP:rs34363823<li>L->V at 313: in dbSNP:rs35571449</ul>									<li>rs3743171</li><li>rs35571449</li><li>rs34363823</li>	2
O60729	8555	<ul><li>I->T at 302: in dbSNP:rs16911114<li>I->T at 341: in dbSNP:rs16911075</ul>									<li>rs16911114</li><li>rs16911075</li>	2
O60732	9947	<ul><li>C->Y at 25: in dbSNP:rs176036<li>T->I at 151: in dbSNP:rs176037<li>Q->H at 257: in dbSNP:rs176047<li>F->S at 276: in dbSNP:rs1055491</ul>									<li>rs1055491</li><li>rs176047</li><li>rs176036</li><li>rs176037</li>	2
O60733	8398	<ul><li>V->I at 58: in dbSNP:rs11570605<li>R->G at 63: in dbSNP:rs11570606<li>R->Q at 70: in dbSNP:rs11570607<li>D->N at 183: in dbSNP:rs11570646<li>V->E at 310: in INAD1, MIM: 256600<li>A->T at 343: in dbSNP:rs11570680, MIM: 256600<li>K->T at 545: in NBIA, MIM: 610217<li>R->W at 632: in Karak syndrome, MIM: 608395<li>Missing  at 691: in INAD1, MIM: 608395<li>S->T at 774: in dbSNP:rs34184838, MIM: 608395</ul>								<li>Neurodegeneration with brain iron accumulation (NBIA) [MIM:610217]</li><li>Infantile neuroaxonal dystrophy 1 (INAD1) [MIM:256600]</li><li>Karak syndrome [MIM:608395]</li>	<li>rs11570607</li><li>rs11570680</li><li>rs11570606</li><li>rs11570605</li><li>rs34184838</li><li>rs11570646</li>	2
O60755	8484	<ul><li>R->G at 342: in dbSNP:rs8137541</ul>									rs8137541	2
O60759	9595	<ul><li>D->N at 37: in dbSNP:rs1042038<li>Q->E at 83: in dbSNP:rs2229345</ul>									<li>rs1042038</li><li>rs2229345</li>	2
O60762	8813	<ul><li>R->G at 92: in CDG1E, MIM: 608799<li>S->P at 248: in CDG1E, MIM: 608799</ul>								Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]		2
O60774		<ul><li>V->I at 127<li>V->I at 257</ul>										2
O60779	10560	<ul><li>D->H at 93: in TRMA, MIM: 249270<li>S->F at 143: in TRMA, MIM: 249270<li>G->D at 172: in TRMA: in dbSNP rsrs28937595, MIM: 249270</ul>							O60779	Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	rs28937595	2
O60784	10043	<ul><li>R->H at 84: in dbSNP:rs11558473<li>M->V at 264: in dbSNP:rs34371697</ul>									<li>rs34371697</li><li>rs11558473</li>	2
O60806	9095	<ul><li>S->F at 128: in ACTHD, MIM: 201400</ul>								ACTH deficiency [MIM:201400]		2
O60809	343071	<ul><li>K->I at 99: in dbSNP:rs3121398<li>H->R at 144: in dbSNP:rs2797709<li>T->A at 306: in dbSNP:rs848424<li>G->R at 402: in dbSNP:rs1736772</ul>									<li>rs3121398</li><li>rs2797709</li><li>rs848424</li><li>rs1736772</li>	2
O60810	400735	<ul><li>D->E at 85: in dbSNP:rs4625290</ul>									rs4625290	2
O60811	65122	<ul><li>V->G at 67: in dbSNP:rs3204790<li>S->W at 68: in dbSNP:rs17038657<li>T->R at 72: in dbSNP:rs9659529<li>E->K at 83: in dbSNP:rs9728577<li>A->T at 128: in dbSNP:rs17039442<li>T->M at 141: in dbSNP:rs17038667<li>Y->C at 225: in dbSNP:rs3204805<li>T->N at 233: in dbSNP:rs17038692<li>T->A at 301: in dbSNP:rs12139546<li>C->Y at 302: in dbSNP:rs17404799<li>N->Y at 304: in dbSNP:rs17404806<li>E->G at 308: in dbSNP:rs12139550<li>L->M at 310: in dbSNP:rs17039283<li>F->Y at 316: in dbSNP:rs17039293<li>C->R at 375: in dbSNP:rs17039307</ul>									<li>rs17404806</li><li>rs3204790</li><li>rs17404799</li><li>rs17038667</li><li>rs12139550</li><li>rs17038657</li><li>rs17039442</li><li>rs17039307</li><li>rs3204805</li><li>rs12139546</li><li>rs17039283</li><li>rs17039293</li><li>rs9659529</li><li>rs9728577</li><li>rs17038692</li>	2
O60812	343069	<ul><li>Q->H at 208: in dbSNP:rs6702447<li>V->D at 258: in dbSNP:rs2076063</ul>									<li>rs6702447</li><li>rs2076063</li>	2
O60828	10084	<ul><li>R->W at 224: in a colorectal cancer sample; somatic mutation</ul>										2
O60831	11230	<ul><li>L->F at 56: in dbSNP:rs34565429</ul>									rs34565429	2
O60832	1736	<ul><li>A->V at 2: in XDKC, MIM: 305000<li>F->V at 36: in XDKC, MIM: 305000<li>Missing  at 37: in XDKC, MIM: 305000<li>I->T at 38: in HHS: in dbSNP rsrs28936072, MIM: 300240<li>K->E at 39: in XDKC, MIM: 305000<li>P->R at 40: in XDKC, MIM: 305000<li>E->K at 41: in XDKC, MIM: 305000<li>T->M at 49: in HHS, MIM: 300240<li>R->T at 65: in XDKC, MIM: 305000<li>T->A at 66: in XDKC, MIM: 305000<li>L->Y at 72: in XDKC; requires 2 nucleotide substitutions, MIM: 305000<li>S->G at 121: in HHS, MIM: 300240<li>G->D at 223: in dbSNP:rs2728533, MIM: 300240<li>L->V at 321: in XDKC, MIM: 305000<li>M->I at 350: in XDKC, MIM: 305000<li>M->T at 350: in XDKC, MIM: 305000<li>A->V at 353: in XDKC and HHS: in dbSNP rsrs28935173, MIM: 300240<li>G->E at 402: in XDKC, MIM: 305000<li>G->R at 402: in XDKC, MIM: 305000</ul>								<li>Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]</li><li>Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]</li>	<li>rs28935173</li><li>rs28936072</li><li>rs2728533</li>	2
O60840		<ul><li>P->L at 14: in dbSNP:rs6520408<li>C->R at 74: in CSNB2A, MIM: 300071<li>G->R at 150: in CSNB2A, MIM: 300071<li>S->P at 229: in CSNB2A, MIM: 300071<li>G->R at 261: in CSNB2A, MIM: 300071<li>G->D at 369: in CSNB2A, MIM: 300071<li>R->Q at 519: in CSNB2A; dbSNP:rs34162630, MIM: 300071<li>V->I at 635: in CSNB2A, MIM: 300071<li>G->D at 674: in CSNB2A, MIM: 300071<li>N->T at 746, MIM: 300071<li>F->C at 753: in CSNB2A, MIM: 300071<li>I->T at 756: in CSNB2A; increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca, MIM: 300071<li>L->P at 860: in CSNB2A, MIM: 300071<li>A->D at 928: in CSNB2A, MIM: 300071<li>G->R at 1018: in CSNB2A, MIM: 300071<li>R->W at 1060: in CSNB2A, MIM: 300071<li>L->P at 1079: in CSNB2A, MIM: 300071<li>A->T at 1270: in dbSNP:rs34308720, MIM: 300071<li>L->H at 1375: in CSNB2A, MIM: 300071<li>C->R at 1499: in CSNB2A, MIM: 300071<li>P->R at 1500: in CSNB2A, MIM: 300071<li>L->P at 1508: in CSNB2A, MIM: 300071<li>R->H at 1930: in dbSNP:rs33910054, MIM: 300071</ul>					membrane	GO:0016020		Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	<li>rs33910054</li><li>rs34308720</li><li>rs6520408</li>	2
O60844	123887	<ul><li>S->G at 32: in dbSNP:rs235636<li>T->S at 162: in dbSNP:rs235638</ul>									<li>rs235636</li><li>rs235638</li>	2
O60858	10206	<ul><li>S->T at 355: in dbSNP:rs1056543</ul>									rs1056543	2
O60879	1730	<ul><li>F->L at 425: in dbSNP:rs20361<li>L->V at 426: in dbSNP:rs20361</ul>									rs20361	2
O60880	4068	<ul><li>Y->C at 7: in XLP1; reduced protein stability and reduced affinity for SLAMF1, MIM: 308240<li>H->D at 8: in XLP1, MIM: 308240<li>G->D at 16: in XLP1; abolishes interaction with SLAMF1, MIM: 308240<li>G->S at 27: in XLP1, MIM: 308240<li>S->R at 28: in XLP1; reduced protein stability, MIM: 308240<li>L->P at 31: in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN, MIM: 308240<li>R->T at 32: in XLP1, MIM: 308240<li>D->Y at 33: in XLP1, MIM: 308240<li>C->W at 42: in XLP1; loss of interaction with CD84 and reduced affinity for SLAMF1, MIM: 308240<li>G->V at 49: in XLP1, MIM: 308240<li>T->I at 53: in XLP1; loss of interaction with CD48 and reduced affinity for SLAMF1 and loss of interaction with nonphosphorylated SLAMF1, MIM: 308240<li>Y->C at 54: in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN, MIM: 308240<li>R->L at 55: in XLP1; reduced affinity for SLAMF1 and FYN, MIM: 308240<li>S->P at 57: in one XLP1 patient; unknown pathological significance, MIM: 308240<li>T->I at 68: in XLP1; loss of interaction with CD48 and strongly reduced affinity for SLAMF1, MIM: 308240<li>I->T at 84: in XLP1; reduced protein stability, MIM: 308240<li>F->S at 87: in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN, MIM: 308240<li>Q->P at 99: in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, MIM: 308240<li>P->L at 101: in XLP1; reduced protein stability and reduced affinity for SLAMF1: in dbSNP rsrs28935184, MIM: 308240<li>V->G at 102: in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, MIM: 308240</ul>							<li>Q05876</li><li>Q9UIB8</li><li>Q95MM9</li><li>P06241</li><li>Q13291</li><li>P09326</li><li>P27446</li>	Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	rs28935184	2
O60882	9313	<ul><li>T->K at 18: in dbSNP:rs2245803<li>D->N at 139: in dbSNP:rs17099014<li>I->L at 169: in dbSNP:rs17099008<li>V->A at 275: in dbSNP:rs1784423<li>T->P at 281: in dbSNP:rs1784424</ul>									<li>rs1784423</li><li>rs1784424</li><li>rs2245803</li><li>rs17099014</li><li>rs17099008</li>	2
O60883	9283	<ul><li>P->A at 81: in dbSNP:rs3795594<li>D->G at 90: in dbSNP:rs3795595<li>K->R at 91: in dbSNP:rs17854616</ul>									<li>rs3795595</li><li>rs3795594</li><li>rs17854616</li>	2
O60885	23476	<ul><li>P->S at 37: in dbSNP rsrs35177876<li>A->G at 371: in dbSNP rsrs55805532<li>S->N at 563: in dbSNP rsrs55970906<li>T->S at 598: in dbSNP rsrs34362023<li>R->H at 669: in dbSNP rsrs35824241<li>R->H at 1097: in dbSNP:rs35676845</ul>									<li>rs34362023</li><li>rs35824241</li><li>rs35676845</li><li>rs55970906</li><li>rs35177876</li><li>rs55805532</li>	2
O60890	4983	<ul><li>A->T at 45<li>T->M at 301<li>M->I at 693: in dbSNP:rs36095561</ul>									rs36095561	2
O60896	10268	<ul><li>G->D at 26: in dbSNP:rs10272187<li>M->L at 33: in dbSNP:rs11550711<li>W->R at 56: in dbSNP:rs2074654</ul>									<li>rs11550711</li><li>rs2074654</li><li>rs10272187</li>	2
O60906	6610	<ul><li>P->L at 3: in dbSNP:rs1048197<li>V->I at 223: in dbSNP:rs9386806<li>R->S at 265: in dbSNP:rs1476387</ul>									<li>rs9386806</li><li>rs1476387</li><li>rs1048197</li>	2
O60909	8704	<ul><li>Q->H at 122: in dbSNP:rs1859728<li>G->R at 338: in dbSNP:rs35904809</ul>									<li>rs35904809</li><li>rs1859728</li>	2
O60921	3364	<ul><li>S->G at 126: in dbSNP:rs2307261<li>Q->K at 147: in dbSNP:rs2307254<li>D->E at 221: in dbSNP:rs3176588</ul>									<li>rs3176588</li><li>rs2307254</li><li>rs2307261</li>	2
O60925	5201	<ul><li>M->R at 67: in dbSNP:rs1064061</ul>									rs1064061	2
O60928	3769	<ul><li>R->W at 162: in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility, MIM: 193230<li>T->I at 175: in dbSNP:rs1801251, MIM: 193230<li>P->Q at 290: in dbSNP:rs17853727, MIM: 193230<li>G->C at 309: in dbSNP:rs17857137, MIM: 193230</ul>								Snowflake vitreoretinal degeneration (SVD) [MIM:193230]	<li>rs1801251</li><li>rs17857137</li><li>rs17853727</li>	2
O60930	246243	<ul><li>L->F at 4: in dbSNP:rs1136545</ul>									rs1136545	2
O60931		<ul><li>V->I at 42: in cystinosis; intermediate, MIM: 219800<li>Missing  at 67-73: in cystinosis; late-onset, MIM: 219800<li>G->V at 110: in cystinosis; atypical, MIM: 219800<li>I->F at 133: in cystinosis, MIM: 219800<li>S->F at 139: in cystinosis; non-classical, MIM: 219800<li>S->SPCS at 154: in cystinosis; late-onset, MIM: 219800<li>L->P at 158: in cystinosis, MIM: 219800<li>G->D at 169: in cystinosis, MIM: 219800<li>N->T at 177: in cystinosis, MIM: 219800<li>W->R at 182: in cystinosis, MIM: 219800<li>G->R at 197: in cystinosis; benign, MIM: 219800<li>P->L at 200: in cystinosis, MIM: 219800<li>D->N at 205: in cystinosis, MIM: 219800<li>Missing  at 205: in cystinosis, MIM: 219800<li>Q->R at 222: in cystinosis, MIM: 219800<li>Missing  at 270: in cystinosis, MIM: 219800<li>K->R at 280: in cystinosis; intermediate, MIM: 219800<li>N->K at 288: in cystinosis, MIM: 219800<li>K->R at 292: in cystinosis; could be a polymorphism; dbSNP:rs1800527, MIM: 219800<li>S->N at 298: in cystinosis, MIM: 219800<li>D->G at 305: in cystinosis, MIM: 219800<li>D->Y at 305: in cystinosis, MIM: 219800<li>G->R at 308: in cystinosis, MIM: 219800<li>N->K at 323: in cystinosis; intermediate, MIM: 219800<li>L->P at 338: in cystinosis, MIM: 219800<li>G->R at 339: in cystinosis, MIM: 219800<li>Missing  at 343-346: in cystinosis, MIM: 219800<li>Missing  at 346-349: in cystinosis, MIM: 219800<li>D->N at 346: in cystinosis; non-classical, MIM: 219800<li>F->FDVEF at 349: in cystinosis, MIM: 219800</ul>								Cystinosis [MIM:219800, 219900, 219750]		2
O60934	4683	<ul><li>S->L at 93: in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant: in dbSNP rsrs12721593<li>D->N at 95: in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant<li>K->N at 105: in dbSNP:rs13312858<li>N->S at 142: in dbSNP:rs769414<li>L->F at 150: in BC, MIM: 114480<li>I->V at 171: in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant; associated with aplastic anemia at homozygosity, MIM: 114480<li>E->Q at 185: in dbSNP:rs1805794, MIM: 114480<li>V->F at 210, MIM: 114480<li>R->W at 215: in dbSNP rsrs34767364, MIM: 114480<li>Q->K at 216: in dbSNP:rs769416, MIM: 114480<li>P->L at 266: in dbSNP:rs769420, MIM: 114480<li>K->E at 408: in dbSNP:rs34120922, MIM: 114480<li>T->A at 497: in dbSNP:rs3026268, MIM: 114480<li>L->I at 574, MIM: 114480</ul>								Breast cancer (BC) [MIM:114480]	<li>rs769420</li><li>rs34767364</li><li>rs769414</li><li>rs13312858</li><li>rs769416</li><li>rs1805794</li><li>rs12721593</li><li>rs3026268</li><li>rs34120922</li>	2
O60938	11081	<ul><li>T->K at 215: in CNA2, MIM: 217300<li>V->G at 235: in dbSNP:rs737111, MIM: 217300<li>N->S at 247: in CNA2, MIM: 217300</ul>							<li>P14747</li><li>P63098</li><li>P63099</li><li>P16298</li>	The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]	rs737111	2
O60939	6327	<ul><li>R->W at 28: in dbSNP:rs17121819<li>R->H at 47: in dbSNP:rs17121818</ul>									<li>rs17121818</li><li>rs17121819</li>	2
O60942	8732	<ul><li>R->H at 594: in dbSNP:rs17856595</ul>									rs17856595	2
O75015	2215	<ul><li>S->R at 36: in allele FCGR3B*01<li>S->N at 65: in allele FCGR3B*01; dbSNP:rs448740<li>A->D at 78: in allele SH: in dbSNP rsrs5030738<li>N->D at 82: in allele FCGR3B*01<li>I->V at 106: in allele FCGR3B*01</ul>							O75015		rs5030738	2
O75019	11024	<ul><li>S->G at 153: in dbSNP:rs10417589<li>L->P at 220: in dbSNP:rs373854</ul>									<li>rs10417589</li><li>rs373854</li>	2
O75022		<ul><li>V->M at 21: in dbSNP:rs1132588<li>Q->R at 59: in dbSNP:rs678876<li>L->W at 69: in dbSNP:rs620207<li>Q->E at 90: in dbSNP:rs1052963<li>S->N at 122: in dbSNP:rs3826750<li>R->Q at 205: in dbSNP:rs1063805<li>Y->F at 400: in dbSNP:rs8105096<li>Y->H at 400: in dbSNP:rs1052992<li>Y->R at 400: requires 2 nucleotide substitutions<li>Y->H at 405: in dbSNP:rs1132604<li>H->Q at 539: in dbSNP:rs1053002<li>A->V at 574: in dbSNP:rs1053008</ul>									<li>rs1052992</li><li>rs1052963</li><li>rs1132588</li><li>rs1053008</li><li>rs1053002</li><li>rs1063805</li><li>rs1132604</li><li>rs8105096</li><li>rs678876</li><li>rs3826750</li><li>rs620207</li>	2
O75027	22	<ul><li>R->G at 315<li>F->I at 346<li>I->M at 400: in ASAT, MIM: 301310<li>V->L at 411: in ASAT, MIM: 301310<li>E->K at 433: in ASAT; impaired maturation of cytosolic Fe/S proteins, MIM: 301310<li>V->A at 581: in dbSNP:rs1340989, MIM: 301310</ul>							P84285	X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	rs1340989	2
O75030	4286	<ul><li>R->K at 310: in WS2A; could be a polymorphism, MIM: 193510<li>N->K at 317: in Tietz syndrome, MIM: 103500<li>Missing  at 324: in WS2A, MIM: 103500<li>S->P at 357: in WS2A, MIM: 193510<li>N->D at 385: in WS2A, MIM: 193510<li>S->P at 405: in WS2A, MIM: 193510</ul>								<li>Tietz syndrome [MIM:103500]</li><li>Waardenburg syndrome type 2A (WS2A) [MIM:193510]</li>		2
O75051	5362	<ul><li>R->Q at 5: in dbSNP:rs2782948</ul>									rs2782948	2
O75054	3321	<ul><li>S->P at 51: in dbSNP:rs3965246<li>D->E at 1020: in dbSNP:rs647711<li>Q->R at 1073: in dbSNP:rs6703791</ul>									<li>rs6703791</li><li>rs3965246</li><li>rs647711</li>	2
O75056	9672	<ul><li>V->I at 208: in dbSNP:rs2491132<li>D->N at 303: in dbSNP:rs4949184<li>T->I at 324: in dbSNP:rs2282440<li>T->I at 329: in dbSNP:rs2282440</ul>									<li>rs2491132</li><li>rs2282440</li><li>rs4949184</li>	2
O75061	9829	<ul><li>S->N at 671: in dbSNP:rs4915691</ul>									rs4915691	2
O75071	9813	<ul><li>L->P at 337: in dbSNP:rs6665021</ul>									rs6665021	2
O75072	2218	<ul><li>G->S at 125: in dbSNP:rs34006675<li>R->T at 179: in CMD1X, MIM: 611615<li>R->Q at 203: in dbSNP:rs34787999, MIM: 611615<li>D->E at 225: in a breast cancer sample; somatic mutation, MIM: 611615<li>D->N at 225: in a breast cancer sample; somatic mutation, MIM: 611615<li>C->G at 250: in FCMD, MIM: 253800<li>R->Q at 307: in LGMD2M; the mutant protein is expressed and localized correctly within the cell, MIM: 611588<li>Q->P at 358: in CMD1X, MIM: 611615<li>N->D at 446: in dbSNP:rs41313301, MIM: 611615</ul>							O75072	<li>Congenital muscular dystrophy Fukuyama type (FCMD) [MIM:253800]</li><li>Limb-girdle muscular dystrophy type 2M (LGMD2M) [MIM:611588]</li><li>Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]</li>	<li>rs41313301</li><li>rs34787999</li><li>rs34006675</li>	2
O75074	4037	<ul><li>P->L at 213: in dbSNP:rs3745978<li>V->A at 708: in dbSNP:rs3745974</ul>									<li>rs3745978</li><li>rs3745974</li>	2
O75081	863	<ul><li>R->H at 306: in a colorectal cancer sample; somatic mutation<li>E->G at 429: in dbSNP:rs1053526<li>E->K at 518: in a colorectal cancer sample; somatic mutation<li>A->V at 534: in a colorectal cancer sample; somatic mutation</ul>									rs1053526	2
O75083	9948	<ul><li>I->V at 185: in dbSNP:rs13441</ul>									rs13441	2
O75084	8324	<ul><li>G->D at 24: in dbSNP:rs35111363<li>G->S at 24<li>G->E at 196: in dbSNP:rs34908164<li>A->V at 487: in dbSNP:rs35600847</ul>									<li>rs35111363</li><li>rs35600847</li><li>rs34908164</li>	2
O75093	6585	<ul><li>P->L at 824: in dbSNP:rs2817673</ul>									rs2817673	2
O75094	6586	<ul><li>A->V at 371: in dbSNP:rs891921<li>R->Q at 395: in dbSNP:rs2288792<li>G->S at 618: in dbSNP:rs10036727<li>R->Q at 810: in dbSNP:rs36052924<li>E->G at 994: in dbSNP:rs2305993<li>P->A at 1064: in dbSNP:rs10072243</ul>									<li>rs36052924</li><li>rs2305993</li><li>rs10036727</li><li>rs10072243</li><li>rs2288792</li><li>rs891921</li>	2
O75106	314	<ul><li>I->V at 5: in dbSNP rsrs34230945<li>Y->C at 22: in dbSNP rsrs34435306<li>P->L at 141: in dbSNP rsrs35833794<li>R->Q at 273: in dbSNP rsrs35508987<li>E->D at 427: in dbSNP rsrs34351794</ul>									<li>rs34351794</li><li>rs34230945</li><li>rs35833794</li><li>rs35508987</li><li>rs34435306</li>	2
O75112	11155	<ul><li>V->I at 55: in dbSNP:rs3740343<li>P->L at 101: in dbSNP:rs45592139<li>S->L at 189: in CMD1C: in dbSNP rsrs45487699, MIM: 601493<li>T->I at 206: in CMD1C, MIM: 601493<li>I->M at 345: in CMD1C, MIM: 601493<li>V->I at 635: in dbSNP:rs45618633, MIM: 601493<li>D->N at 673: in CMD1C: in dbSNP rsrs45514002, MIM: 601493</ul>								Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]	<li>rs45592139</li><li>rs45514002</li><li>rs45618633</li><li>rs45487699</li><li>rs3740343</li>	2
O75116	9475	<ul><li>N->T at 431: in dbSNP rsrs2230774<li>D->V at 601: in dbSNP rsrs35768389<li>S->P at 1194: in a metastatic melanoma sample; somatic mutation</ul>									<li>rs2230774</li><li>rs35768389</li>	2
O75123	9831	<ul><li>D->N at 126: in dbSNP:rs4874084</ul>									rs4874084	2
O75127	26024	<ul><li>P->L at 356: in dbSNP:rs34714513<li>V->G at 620: in dbSNP:rs35633728</ul>									<li>rs35633728</li><li>rs34714513</li>	2
O75128	23242	<ul><li>P->L at 526: in dbSNP:rs17656599<li>D->A at 577: in dbSNP:rs10230120<li>V->I at 607: in dbSNP:rs2240090<li>H->Q at 919: in dbSNP:rs2240089<li>D->N at 927: in dbSNP:rs17134128<li>A->P at 1015: in dbSNP:rs17134127</ul>									<li>rs17134127</li><li>rs2240090</li><li>rs10230120</li><li>rs17134128</li><li>rs2240089</li><li>rs17656599</li>	2
O75129	23245	<ul><li>V->I at 70: in dbSNP:rs16933591<li>R->H at 865: in dbSNP:rs3818503<li>V->I at 1149: in dbSNP:rs16933591<li>V->L at 1293: in a breast cancer sample; somatic mutation</ul>									<li>rs16933591</li><li>rs3818503</li>	2
O75131	8895	<ul><li>E->D at 252: in dbSNP:rs41333046<li>T->M at 412: in dbSNP:rs2304789</ul>									<li>rs41333046</li><li>rs2304789</li>	2
O75132		<ul><li>V->I at 420: in dbSNP:rs910799</ul>									rs910799	2
O75140	9681	<ul><li>S->T at 491: in dbSNP:rs8138516<li>A->V at 641: in dbSNP:rs16989528<li>S->F at 712: in dbSNP:rs16989535</ul>									<li>rs16989535</li><li>rs16989528</li><li>rs8138516</li>	2
O75144	23308	<ul><li>V->I at 128: in dbSNP:rs11558819</ul>									rs11558819	2
O75145	8541	<ul><li>A->S at 563: in dbSNP:rs2303053</ul>									rs2303053	2
O75146	9026	<ul><li>K->Q at 404: in dbSNP:rs7972242<li>K->Q at 516: in dbSNP:rs7972242<li>V->M at 782: in dbSNP:rs2271051<li>N->S at 943: in dbSNP:rs3736414</ul>									<li>rs7972242</li><li>rs2271051</li><li>rs3736414</li>	2
O75151	5253	<ul><li>T->P at 56: in dbSNP:rs34279404<li>S->L at 1058: in dbSNP:rs35236745</ul>									<li>rs35236745</li><li>rs34279404</li>	2
O75152	9877	<ul><li>T->N at 640: in dbSNP:rs11240604</ul>									rs11240604	2
O75153	23277	<ul><li>A->V at 633: in dbSNP:rs11078312</ul>									rs11078312	2
O75157	9819	<ul><li>A->T at 419: in dbSNP:rs879634</ul>									rs879634	2
O75161	261734	<ul><li>D->Y at 3: in SLSN4, MIM: 606996<li>T->M at 29: in dbSNP:rs12142270, MIM: 606996<li>F->L at 91: in SLSN4, MIM: 606996<li>R->C at 342: in NPHP4, MIM: 606966<li>R->W at 469: in NPHP4, MIM: 606966<li>A->G at 544: in dbSNP:rs12093500, MIM: 606966<li>E->K at 618: in dbSNP:rs571655, MIM: 606966<li>T->M at 627: in SLSN4, MIM: 606996<li>A->G at 654: in NPHP4, MIM: 606966<li>R->W at 735: in NPHP4, MIM: 606966<li>R->H at 740: does not affect interaction with RPGRIP1L; dbSNP:rs34248917, MIM: 606966<li>G->R at 754: in NPHP4; affects interaction with RPGRIP1L, MIM: 606966<li>V->I at 765, MIM: 606966<li>Q->R at 766: in NPHP4; with color blindness, MIM: 606966<li>P->R at 776: in NPHP4, MIM: 606966<li>H->Q at 782: in NPHP4, MIM: 606966<li>R->W at 848: does not affect interaction with RPGRIP1L; dbSNP:rs17472401, MIM: 606966<li>L->Q at 939: in dbSNP:rs1287637, MIM: 606966<li>Missing at 940-941, MIM: 606966<li>T->A at 946: in SLSN4, MIM: 606996<li>R->Q at 959: in dbSNP:rs12084067, MIM: 606996<li>R->H at 961: in NPHP4, MIM: 606966<li>F->S at 991: in NPHP4; dbSNP:rs28940891, MIM: 606966<li>A->T at 1098: in NPHP4; dbSNP:rs41280798, MIM: 606966<li>R->W at 1192: in NPHP4, MIM: 606966<li>T->M at 1225: in SLSN4, MIM: 606996<li>R->C at 1284: in NPHP4, MIM: 606966<li>Q->E at 1287: in NPHP4; with hearing loss, MIM: 606966</ul>	hearing	GO:0007605					O75161	<li>Nephronophthisis type 4 (NPHP4) [MIM:606966]</li><li>Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]</li>	<li>rs12142270</li><li>rs28940891</li><li>rs17472401</li><li>rs34248917</li><li>rs571655</li><li>rs1287637</li><li>rs41280798</li><li>rs12084067</li><li>rs12093500</li>	2
O75164	9682	<ul><li>E->A at 482: in dbSNP:rs586339<li>V->G at 877: in dbSNP:rs12759032</ul>									<li>rs586339</li><li>rs12759032</li>	2
O75165	23317	<ul><li>S->A at 1463: in dbSNP:rs3762672<li>F->C at 1487: in dbSNP:rs4405917<li>V->I at 1995: in dbSNP:rs10935014</ul>									<li>rs4405917</li><li>rs3762672</li><li>rs10935014</li>	2
O75167	9749	<ul><li>P->S at 165: in dbSNP:rs2073214<li>I->V at 449: in dbSNP:rs2295201</ul>									<li>rs2073214</li><li>rs2295201</li>	2
O75173	9507	<ul><li>T->I at 4: in dbSNP:rs17855814<li>D->N at 304: in dbSNP:rs17855813<li>M->V at 369: in dbSNP:rs17855812<li>P->T at 552: in dbSNP:rs17855815<li>T->A at 564: in dbSNP:rs17855816<li>R->Q at 626: in dbSNP:rs4233367<li>R->K at 836: in dbSNP:rs11807350</ul>									<li>rs17855812</li><li>rs17855813</li><li>rs17855814</li><li>rs17855815</li><li>rs17855816</li><li>rs11807350</li><li>rs4233367</li>	2
O75177	26039	<ul><li>A->T at 321: in dbSNP:rs36106901</ul>									rs36106901	2
O75179	26057	<ul><li>H->Y at 2560: in dbSNP:rs2306059</ul>									rs2306059	2
O75185	9914	<ul><li>G->S at 411: in dbSNP:rs2303853<li>M->L at 466: in dbSNP:rs247897<li>L->P at 907: in dbSNP:rs16973859</ul>									<li>rs2303853</li><li>rs16973859</li><li>rs247897</li>	2
O75197	4041	<ul><li>Missing at 18-20<li>L->LL at 20<li>Q->R at 89: in dbSNP:rs41494349<li>D->Y at 111: in OPTA1, MIM: 607634<li>G->R at 171: in OPTA1, MIM: 607634<li>G->V at 171: in HBM; also in HBM individuals with enlarged mandible and torus palatinus; impairs inhibition of Wnt signaling by Dkk-1, MIM: 601884<li>T->M at 173: in an individual with abnormal retinal vasculature and retinal folds, MIM: 601884<li>A->T at 214: in WENHY, MIM: 144750<li>A->V at 214: in WENHY, MIM: 144750<li>A->T at 242: in OPTA1, VBCH2 and WENHY, MIM: 607636<li>T->I at 253: in OPTA1, MIM: 607634<li>R->Q at 494: in OPPG, MIM: 259770<li>R->Q at 570: in EVR4; autosomal recessive, MIM: 601813<li>R->W at 570: in OPPG, MIM: 259770<li>V->M at 667: in dbSNP:rs4988321, MIM: 259770<li>R->C at 752: in EVR4; autosomal recessive, MIM: 601813<li>Y->H at 1168: in an individual with total retinal detachment and retinoschisis, MIM: 601813<li>V->L at 1204: in dbSNP:rs11607268, MIM: 601813<li>A->V at 1300: in dbSNP:rs3736228, MIM: 601813<li>A->V at 1330: in dbSNP:rs3736228, MIM: 601813<li>C->G at 1361: in EVR4; autosomal dominant, MIM: 601813<li>E->K at 1367: in EVR4; autosomal recessive: in dbSNP rsrs28939709, MIM: 601813<li>A->V at 1525: in dbSNP:rs1127291, MIM: 601813</ul>							<li>O54908</li><li>O94907</li>	<li>Van Buchem disease type 2 (VBCH2) [MIM:607636]</li><li>Osteoporosis pseudoglioma syndrome (OPPG) [MIM:259770]</li><li>Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]</li><li>Endosteal hyperostosis Worth type (WENHY) [MIM:144750]</li><li>High bone mass trait (HBM) [MIM:601884]</li><li>Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]</li>	<li>rs1127291</li><li>rs28939709</li><li>rs41494349</li><li>rs4988321</li><li>rs3736228</li><li>rs11607268</li>	2
O75251	374291	<ul><li>P->L at 23: in dbSNP:rs1142530<li>V->M at 122: in complex I deficiency and LS, MIM: 256000</ul>							Q07842	Leigh syndrome (LS) [MIM:256000]	rs1142530	2
O75298	6253	<ul><li>R->Q at 425: in dbSNP:rs35461805</ul>									rs35461805	2
O75306	4720	<ul><li>P->T at 20: in dbSNP:rs11538340<li>R->Q at 228: in complex I deficiency<li>P->A at 229: in dbSNP:rs16827493<li>P->Q at 229: in complex I deficiency<li>P->A at 352: in dbSNP:rs11576415<li>S->P at 413: in complex I deficiency</ul>							Q07842		<li>rs11538340</li><li>rs16827493</li><li>rs11576415</li>	2
O75309	1014	<ul><li>L->F at 191: in dbSNP:rs2271024<li>H->Y at 257: in dbSNP:rs2271023</ul>									<li>rs2271023</li><li>rs2271024</li>	2
O75312	8882	<ul><li>A->V at 264: in dbSNP:rs35120633</ul>									rs35120633	2
O75324	8303	<ul><li>V->I at 17: in dbSNP:rs8191328<li>G->S at 88: in dbSNP:rs8191329</ul>									<li>rs8191328</li><li>rs8191329</li>	2
O75325	10446	<ul><li>P->L at 7: in dbSNP:rs3789044<li>A->T at 19: in dbSNP:rs36012907<li>L->V at 518: in dbSNP:rs3747631<li>V->A at 659: in dbSNP:rs34771052<li>P->S at 692: in dbSNP:rs11588857</ul>									<li>rs3747631</li><li>rs3789044</li><li>rs36012907</li><li>rs34771052</li><li>rs11588857</li>	2
O75326	8482	<ul><li>S->T at 115: in dbSNP:rs16968733<li>R->Q at 207: in dbSNP rsrs55637216<li>R->W at 207: in dbSNP rsrs56367230<li>R->H at 460: in dbSNP rsrs56204206<li>R->C at 461: in dbSNP rsrs56001514</ul>									<li>rs56204206</li><li>rs56367230</li><li>rs55637216</li><li>rs16968733</li><li>rs56001514</li>	2
O75330	3161	<ul><li>R->C at 92: in dbSNP:rs299284<li>N->K at 305: in dbSNP:rs2303077<li>R->H at 332: in dbSNP:rs2303078<li>V->A at 368: in dbSNP:rs299290<li>A->V at 484: in dbSNP:rs299295</ul>									<li>rs2303078</li><li>rs2303077</li><li>rs299295</li><li>rs299284</li><li>rs299290</li>	2
O75333	347853	<ul><li>K->T at 101: in dbSNP:rs3758938<li>Q->H at 160: in dbSNP:rs11227873</ul>									<li>rs11227873</li><li>rs3758938</li>	2
O75339	8483	<ul><li>W->L at 59: in dbSNP:rs2585033<li>S->F at 327<li>I->T at 395: common polymorphism; LDD susceptibility; increases binding and inhibition of TGFB1; dbSNP:rs2073711<li>E->K at 575: in dbSNP:rs2679118<li>A->V at 895<li>R->Q at 979: in dbSNP:rs2679117<li>D->N at 1101<li>S->G at 1166: in dbSNP:rs938952<li>V->A at 1168</ul>			binding	GO:0005488			<li>P54831</li><li>P09533</li><li>P18341</li><li>P50414</li><li>O19011</li><li>P09531</li><li>P07200</li><li>Q9Z1Y6</li><li>Q9PTQ2</li><li>O93449</li><li>P01137</li><li>Q38HS2</li>		<li>rs2585033</li><li>rs2679118</li><li>rs2679117</li><li>rs2073711</li><li>rs938952</li>	2
O75340	10016	<ul><li>G->C at 123: in a breast cancer sample; somatic mutation</ul>										2
O75342	242	<ul><li>G->S at 94: in dbSNP:rs8077661<li>L->P at 426: in NCIE, MIM: 242100<li>H->Q at 578: in NCIE, MIM: 242100</ul>								Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	rs8077661	2
O75343		<ul><li>Y->C at 55: in dbSNP:rs9568497<li>M->I at 128: in dbSNP:rs11841997<li>N->H at 316: in dbSNP:rs1328361</ul>									<li>rs9568497</li><li>rs11841997</li><li>rs1328361</li>	2
O75351	9525	<ul><li>I->M at 58: common polymorphism; induces thermal instability; dbSNP:rs17688948</ul>									rs17688948	2
O75352	9526	<ul><li>G->E at 73: in CDG1F, MIM: 609180<li>L->S at 74: in CDG1F, MIM: 609180<li>L->P at 119: in CDG1F, MIM: 609180<li>G->S at 225: in dbSNP:rs16956808, MIM: 609180<li>A->T at 229: in dbSNP:rs10852891, MIM: 609180</ul>								Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]	<li>rs16956808</li><li>rs10852891</li>	2
O75354	955	<ul><li>S->N at 14: in dbSNP:rs2076559<li>L->V at 138: in dbSNP:rs1044567<li>R->Q at 157: in dbSNP:rs34007133<li>E->K at 202: in dbSNP:rs6050446<li>S->N at 323: in dbSNP:rs6138541</ul>									<li>rs34007133</li><li>rs6138541</li><li>rs1044567</li><li>rs2076559</li><li>rs6050446</li>	2
O75355	956	<ul><li>E->D at 440: in dbSNP:rs4470483<li>A->V at 496: in dbSNP:rs1047855<li>L->F at 505: in dbSNP:rs3733167</ul>									<li>rs3733167</li><li>rs4470483</li><li>rs1047855</li>	2
O75356	957	<ul><li>K->R at 314: in dbSNP:rs17094434</ul>									rs17094434	2
O75360	5626	<ul><li>S->N at 20: in dbSNP:rs7445271<li>R->C at 73: in CPHD; familial, MIM: 601538<li>R->H at 73: in CPHD; familial, MIM: 601538<li>F->I at 117: in CPHD; familial, MIM: 601538<li>R->C at 120: in CPHD; familial, MIM: 601538<li>R->W at 125: in CPHD, MIM: 601538<li>A->T at 142: in dbSNP:rs1800197, MIM: 601538</ul>								Combined pituitary hormone deficiency (CPHD) [MIM:601538, 262600]	<li>rs1800197</li><li>rs7445271</li>	2
O75362	7764	<ul><li>D->N at 323: in a colorectal cancer sample; somatic mutation<li>V->I at 739: in dbSNP:rs6063966</ul>									rs6063966	2
O75363	8537	<ul><li>Q->K at 24: in dbSNP:rs394732<li>V->A at 163: in dbSNP:rs158551<li>G->E at 255: in dbSNP:rs6022903<li>Q->H at 472: in dbSNP:rs35575210<li>S->P at 583: in dbSNP:rs1055246</ul>									<li>rs158551</li><li>rs1055246</li><li>rs394732</li><li>rs6022903</li><li>rs35575210</li>	2
O75364	5309	<ul><li>S->N at 13: in ADCC, MIM: 602669</ul>	ADCC	GO:0001788						Autosomal dominant congenital cataract (ADCC) [MIM:602669]		2
O75369	2317	<ul><li>F->C at 161: in LRS1, MIM: 150250<li>G->S at 168: in LRS1, MIM: 150250<li>L->R at 171: in boomerang dysplasia, MIM: 112310<li>A->V at 173: in AO1: in dbSNP rsrs28937586, MIM: 108720<li>S->P at 188: in AO1, MIM: 108720<li>M->V at 202: in AO1 and AO3: in dbSNP rsrs28939707, MIM: 108721<li>E->K at 227: in LRS1, MIM: 150250<li>L->V at 234: in LRS1, MIM: 150250<li>S->P at 235: in boomerang dysplasia, MIM: 112310<li>G->S at 361: in LRS1, MIM: 150250<li>G->E at 363: in LRS1, MIM: 150250<li>R->Q at 566: in a breast cancer sample; somatic mutation, MIM: 150250<li>N->K at 663: in a breast cancer sample; somatic mutation, MIM: 150250<li>T->K at 703: in a breast cancer sample; somatic mutation, MIM: 150250<li>G->R at 751: in AO3: in dbSNP rsrs28937587, MIM: 108721<li>V->M at 1018: in dbSNP:rs2276742, MIM: 108721<li>N->D at 1157: in dbSNP:rs1131356, MIM: 108721<li>E->K at 1179: in dbSNP:rs17058845, MIM: 108721<li>L->R at 1431: in LRS1, MIM: 150250<li>M->V at 1471: in dbSNP:rs12632456, MIM: 150250<li>A->G at 1534: in a breast cancer sample; somatic mutation, MIM: 150250<li>Missing  at 1571: in LRS1, MIM: 150250<li>G->R at 1586: in LRS1: in dbSNP rsrs28939706, MIM: 150250<li>V->D at 1592: in LRS1, MIM: 150250<li>P->L at 1603: in LRS1, MIM: 150250<li>G->S at 1691: in LRS1, MIM: 150250<li>G->R at 1834: in LRS1, MIM: 150250</ul>							<li>Q7G192</li><li>Q7G193</li>	<li>Atelosteogenesis type 1 (AO1) [MIM:108720]</li><li>Atelosteogenesis type 3 (AO3) [MIM:108721]</li><li>Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]</li><li>Boomerang dysplasia [MIM:112310]</li>	<li>rs17058845</li><li>rs12632456</li><li>rs2276742</li><li>rs28939706</li><li>rs28937587</li><li>rs1131356</li><li>rs28937586</li><li>rs28939707</li>	2
O75381	5195	<ul><li>A->S at 117: in dbSNP:rs12061667<li>A->S at 150: in dbSNP:rs11539793<li>R->K at 320: in dbSNP:rs12070353</ul>									<li>rs12070353</li><li>rs11539793</li><li>rs12061667</li>	2
O75382	10612	<ul><li>L->R at 298: in dbSNP:rs10128723</ul>									rs10128723	2
O75385	8408	<ul><li>V->M at 290: in an ovarian mucinous carcinoma sample; somatic mutation<li>S->L at 298: in dbSNP:rs56364352<li>P->L at 478: in dbSNP:rs12827141<li>T->M at 503: in dbSNP:rs55824543<li>S->L at 665: in dbSNP:rs55815560<li>P->L at 714: in dbSNP:rs11546871<li>S->C at 784: in a lung adenocarcinoma sample; somatic mutation<li>A->T at 816: in dbSNP:rs11609348</ul>									<li>rs55824543</li><li>rs12827141</li><li>rs11546871</li><li>rs11609348</li><li>rs55815560</li><li>rs56364352</li>	2
O75387	8501	<ul><li>G->V at 238: in dbSNP:rs17151933<li>H->Y at 443: in dbSNP:rs34746107</ul>									<li>rs34746107</li><li>rs17151933</li>	2
O75388	2854	<ul><li>F->L at 327: in dbSNP:rs1864011</ul>									rs1864011	2
O75398	10522	<ul><li>E->V at 186: in a primary colorectal cancer<li>K->I at 191: in a primary colorectal cancer<li>K->N at 191: in a primary colorectal cancer<li>YDSE->CDND at 199-202: in a primary colorectal cancer<li>E->D at 202: in a primary colorectal cancer<li>R->K at 218: in a primary colorectal cancer: in dbSNP rsrs1127312<li>DRA->GQT at 350-352: in a primary colorectal cancer<li>E->H at 356: in a primary colorectal cancer; requires 2 nucleotide substitutions<li>S->N at 364: in a primary colorectal cancer<li>Q->H at 367: in a primary colorectal cancer<li>V->L at 370: in a primary colorectal cancer<li>Y->F at 397: in a primary colorectal cancer<li>V->A at 442: in a primary colorectal cancer<li>E->K at 449: in a primary colorectal cancer<li>RS->GI at 451-452: in a primary colorectal cancer<li>Q->H at 468: in a primary colorectal cancer<li>H->L at 479: in a primary colorectal cancer<li>E->K at 498: in a primary colorectal cancer<li>T->N at 526: in a primary colorectal cancer<li>R->L at 530: in a primary colorectal cancer<li>QH->HL at 537-538: in a primary colorectal cancer<li>Q->H at 542: in a primary colorectal cancer<li>A->G at 545: in a primary colorectal cancer: in dbSNP rsrs34114147<li>A->V at 545: in a primary colorectal cancer</ul>									<li>rs34114147</li><li>rs1127312</li>	2
O75409	25763	<ul><li>V->I at 68: in dbSNP:rs6651635</ul>									rs6651635	2
O75410	6867	<ul><li>P->L at 187: in dbSNP:rs34235313<li>I->T at 243: in dbSNP:rs6980553<li>E->G at 255: in dbSNP:rs10107016</ul>									<li>rs10107016</li><li>rs34235313</li><li>rs6980553</li>	2
O75419	8318	<ul><li>V->I at 81: in dbSNP:rs13447203<li>M->R at 356: in dbSNP:rs17209274<li>V->M at 376: in dbSNP:rs13447263</ul>									<li>rs13447263</li><li>rs17209274</li><li>rs13447203</li>	2
O75426	26261	<ul><li>R->H at 302: in dbSNP:rs7801492</ul>									rs7801492	2
O75427	4034	<ul><li>V->M at 642: in dbSNP:rs3197597</ul>									rs3197597	2
O75437	9534	<ul><li>D->G at 93: in dbSNP:rs17854260<li>A->T at 386: in dbSNP:rs403356<li>T->A at 457: in dbSNP:rs2925930<li>V->I at 594: in dbSNP:rs2446056</ul>									<li>rs2446056</li><li>rs403356</li><li>rs2925930</li><li>rs17854260</li>	2
O75439	9512	<ul><li>E->D at 396: in dbSNP:rs3087615</ul>									rs3087615	2
O75443		<ul><li>R->H at 284: in a breast cancer sample; somatic mutation<li>R->G at 371: in dbSNP:rs612969<li>I->N at 771: in a breast cancer sample; somatic mutation<li>N->T at 813: in a breast cancer sample; somatic mutation<li>V->A at 932: in dbSNP:rs520805<li>C->S at 1057: in DFNA12; progressive deafness with late onset, MIM: 601543<li>C->S at 1619: in DFNA12, MIM: 601543<li>N->S at 1724: in dbSNP:rs526433, MIM: 601543<li>L->F at 1820: in DFNA12; prelingual and stable deafness, MIM: 601543<li>G->D at 1824: in DFNA12; prelingual and stable deafness, MIM: 601543<li>C->G at 1837: in a family with autosomal dominant deafness; postlingual and progressive; phenotype different from DFNA8/DFNA12, MIM: 601543<li>Y->C at 1870: in DFNA8; prelingual and stable deafness, MIM: 601543<li>R->H at 2021: in a family with autosomal dominant deafness, MIM: 601543<li>S->T at 2100, MIM: 601543</ul>								Non-syndromic sensorineural deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	<li>rs612969</li><li>rs526433</li><li>rs520805</li>	2
O75444	4094	<ul><li>R->P at 288: in juvenile-onset pulverulent cataract, MIM: 610202<li>K->R at 297: in CCA4, MIM: 610202</ul>								<li>Juvenile-onset pulverulent cataract [MIM:610202]</li><li>Congenital cerulean cataract 4 (CCA4) [MIM:610202]</li>		2
O75445	7399	<ul><li>A->T at 125: in dbSNP:rs10779261<li>C->Y at 163: in USH2A, MIM: 276901<li>V->E at 218: in USH2A, MIM: 276901<li>V->M at 230: in USH2A; may be a common polymorphism; dbSNP:rs45500891, MIM: 276901<li>G->R at 268: in USH2A; uncertain pathogenicity, MIM: 276901<li>L->F at 280: in USH2A, MIM: 276901<li>E->K at 284: in USH2A, MIM: 276901<li>R->C at 303: in USH2A, MIM: 276901<li>R->S at 303: in USH2A, MIM: 276901<li>S->I at 307: in USH2A; uncertain pathogenicity, MIM: 276901<li>C->Y at 319: in USH2A, MIM: 276901<li>R->Q at 334: in USH2A, MIM: 276901<li>R->W at 334: in USH2A, MIM: 276901<li>N->H at 346: in USH2A, MIM: 276901<li>T->I at 352: in USH2A, MIM: 276901<li>N->T at 357: in USH2A, MIM: 276901<li>L->F at 365, MIM: 276901<li>S->I at 391: in USH2A; uncertain pathogenicity, MIM: 276901<li>C->F at 419: in USH2A, MIM: 276901<li>R->C at 464: in USH2A; uncertain pathogenicity, MIM: 276901<li>E->D at 478: in RP39 and USH2A; uncertain pathogenicity; dbSNP:rs35730265, MIM: 276901<li>F->S at 479, MIM: 276901<li>G->V at 516: in USH2A; uncertain pathogenicity, MIM: 276901<li>R->T at 517: in USH2A; uncertain pathogenicity, MIM: 276901<li>C->R at 536: in USH2A; abolishes interaction with collagen IV, MIM: 276901<li>L->V at 555: in USH2A; dbSNP:rs35818432, MIM: 276901<li>C->S at 575: in USH2A; uncertain pathogenicity, MIM: 276901<li>Missing  at 587: in USH2A; uncertain pathogenicity, MIM: 276901<li>F->S at 595, MIM: 276901<li>H->P at 610: in USH2A, MIM: 276901<li>D->V at 644: in dbSNP:rs1805048, MIM: 276901<li>D->E at 703, MIM: 276901<li>G->R at 713: in USH2A; abolishes interaction with collagen IV; uncertain pathogenicity; dbSNP:rs696723, MIM: 276901<li>F->L at 739: in RP39; uncertain pathogenicity, MIM: 268000<li>C->F at 759: in RP39 and USH2A, MIM: 276901<li>P->R at 761: in USH2A, MIM: 276901<li>S->Y at 841, MIM: 276901<li>T->N at 911: in RP39; uncertain pathogenicity, MIM: 268000<li>L->V at 1047, MIM: 268000<li>P->L at 1059: in USH2A; uncertain pathogenicity, MIM: 276901<li>P->L at 1212: in USH2A, MIM: 276901<li>S->P at 1349, MIM: 276901<li>L->R at 1470: in RP39; uncertain pathogenicity, MIM: 268000<li>R->K at 1486: in dbSNP:rs1805049, MIM: 268000<li>T->M at 1515: in USH2A, MIM: 276901<li>L->F at 1572, MIM: 276901<li>I->T at 1665: in dbSNP rsrs56222536, MIM: 276901<li>Y->C at 1757, MIM: 276901<li>V->E at 1833: in USH2A, MIM: 276901<li>K->N at 2080, MIM: 276901<li>T->N at 2086, MIM: 276901<li>I->T at 2106: in dbSNP:rs6657250, MIM: 276901<li>I->T at 2169: in dbSNP:rs10864219, MIM: 276901<li>E->A at 2238: in dbSNP rsrs41277212, MIM: 276901<li>A->D at 2249: in USH2A, MIM: 276901<li>EY->D at 2265-2266: in USH2A, MIM: 276901<li>R->H at 2292: in dbSNP rsrs41277210, MIM: 276901<li>R->H at 2354: in USH2A, MIM: 276901<li>V->A at 2562: in dbSNP rsrs56385601, MIM: 276901<li>A->S at 2795: in USH2A, MIM: 276901<li>R->Q at 2875: in dbSNP:rs12118814, MIM: 276901<li>L->F at 2886: in dbSNP rsrs41277200, MIM: 276901<li>E->K at 3088: in dbSNP rsrs56056328, MIM: 276901<li>N->S at 3099: in dbSNP rsrs41277194, MIM: 276901<li>T->A at 3115: in dbSNP rsrs56032526, MIM: 276901<li>R->G at 3124: in USH2A; uncertain pathogenicity, MIM: 276901<li>D->N at 3144: in dbSNP:rs11120645, MIM: 276901<li>N->D at 3199: in dbSNP:rs4129843, MIM: 276901<li>C->R at 3251: in USH2A, MIM: 276901<li>C->R at 3267: in USH2A, MIM: 276901<li>C->R at 3282: in USH2A, MIM: 276901<li>I->M at 3335, MIM: 276901<li>E->A at 3411: in dbSNP:rs10864198, MIM: 276901<li>Y->YY at 3472: in USH2A, MIM: 276901<li>P->T at 3504: in USH2A, MIM: 276901<li>W->R at 3521: in USH2A, MIM: 276901<li>T->M at 3571: in USH2A, MIM: 276901<li>P->L at 3590, MIM: 276901<li>T->I at 3835: in dbSNP:rs11120616, MIM: 276901<li>M->V at 3868: in dbSNP rsrs35309576, MIM: 276901<li>P->T at 3893: in dbSNP rsrs41303285, MIM: 276901<li>G->E at 3895: in USH2A, MIM: 276901<li>T->M at 3976: in USH2A, MIM: 276901<li>S->I at 4054: in USH2A, MIM: 276901<li>R->C at 4115: in USH2A; uncertain pathogenicity, MIM: 276901<li>P->R at 4232: in USH2A, MIM: 276901<li>T->M at 4337: in USH2A, MIM: 276901<li>T->M at 4425: in USH2A, MIM: 276901<li>V->L at 4433, MIM: 276901<li>T->I at 4439: in USH2A, MIM: 276901<li>Y->C at 4487: in USH2A, MIM: 276901<li>Q->H at 4592: in USH2A, MIM: 276901<li>F->V at 4624, MIM: 276901<li>R->G at 4674: in RP39, MIM: 268000<li>R->K at 4739: in dbSNP:rs12085354, MIM: 268000<li>L->R at 4795: in USH2A, MIM: 276901<li>P->L at 4818: in USH2A, MIM: 276901<li>R->W at 5031: in dbSNP rsrs56038610, MIM: 276901</ul>					collagen	GO:0005581	<li>Q3E757</li><li>P0C0W9</li><li>O75445</li>	<li>Usher syndrome type 2A (USH2A) [MIM:276901]</li><li>Retinitis pigmentosa type 39 (RP39) [MIM:268000]</li>	<li>rs6657250</li><li>rs35309576</li><li>rs56056328</li><li>rs11120616</li><li>rs56222536</li><li>rs4129843</li><li>rs12085354</li><li>rs41277210</li><li>rs1805048</li><li>rs11120645</li><li>rs41277212</li><li>rs41303285</li><li>rs35818432</li><li>rs1805049</li><li>rs12118814</li><li>rs56385601</li><li>rs696723</li><li>rs45500891</li><li>rs41277200</li><li>rs10779261</li><li>rs56038610</li><li>rs41277194</li><li>rs10864219</li><li>rs35730265</li><li>rs10864198</li><li>rs56032526</li>	2
O75448	9862	<ul><li>A->T at 204: in dbSNP:rs34585432</ul>									rs34585432	2
O75459	8712	<ul><li>L->P at 75: in dbSNP:rs1055197</ul>									rs1055197	2
O75460	2081	<ul><li>N->S at 244: in a renal clear cell carcinoma sample; somatic mutation<li>V->M at 418: in dbSNP:rs55869215<li>L->R at 474: in a lung adenocarcinoma sample; somatic mutation<li>R->W at 635: in a gastric adenocarcinoma sample; somatic mutation<li>N->S at 700<li>S->F at 769: in a glioblastoma multiforme sample; somatic mutation<li>P->L at 830: in an ovarian serous carcinoma sample; somatic mutation</ul>									rs55869215	2
O75462	9244	<ul><li>W->G at 76: in Crisponi syndrome, MIM: 601378<li>R->H at 81: in CISS1, MIM: 272430<li>R->K at 176: in dbSNP:rs11672248, MIM: 272430<li>L->R at 374: in CISS1, MIM: 272430</ul>								<li>Crisponi syndrome [MIM:601378]</li><li>Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]</li>	rs11672248	2
O75469	8856	<ul><li>A->T at 12: in dbSNP:rs1063955<li>E->K at 18: in dbSNP rsrs59371185<li>P->S at 27: in allele PXR*2; dbSNP:rs12721613<li>G->R at 36: in allele PXR*3<li>R->C at 98<li>R->Q at 122: in allele PXR*4; rare polymorphism: in dbSNP rsrs12721608<li>R->Q at 148<li>A->T at 370: in dbSNP:rs35761343<li>R->W at 381<li>I->V at 403</ul>							<li>Q8SQ01</li><li>O75469</li>		<li>rs1063955</li><li>rs12721608</li><li>rs12721613</li><li>rs35761343</li><li>rs59371185</li>	2
O75473	8549	<ul><li>H->R at 383: in dbSNP:rs12303775<li>V->A at 666: in dbSNP:rs17109924</ul>									<li>rs17109924</li><li>rs12303775</li>	2
O75478	6871	<ul><li>S->P at 6: in dbSNP:rs7211875<li>M->V at 115: in dbSNP:rs1054865<li>I->M at 351: in dbSNP:rs2522969</ul>									<li>rs7211875</li><li>rs1054865</li><li>rs2522969</li>	2
O75487	2239	<ul><li>E->D at 391: in dbSNP:rs1129980<li>A->V at 442: in dbSNP:rs1048369</ul>									<li>rs1129980</li><li>rs1048369</li>	2
O75489	4722	<ul><li>P->Q at 249: in dbSNP:rs9600</ul>									rs9600	2
O75496	51053	<ul><li>N->H at 15: in dbSNP:rs34891389<li>N->T at 18: in dbSNP:rs1923185<li>L->F at 48: in dbSNP:rs2307307<li>R->W at 54: in dbSNP:rs2307306<li>S->P at 60: in dbSNP:rs2307302<li>T->M at 203: in dbSNP:rs2307303</ul>									<li>rs34891389</li><li>rs2307302</li><li>rs1923185</li><li>rs2307303</li><li>rs2307307</li><li>rs2307306</li>	2
O75503	1203	<ul><li>R->H at 63: in CLN5, MIM: 256731<li>R->P at 63: in CLN5, MIM: 256731<li>Y->D at 209: in CLN5, MIM: 256731<li>D->N at 230: in CLN5, MIM: 256731<li>K->R at 319: in dbSNP:rs1800209, MIM: 256731</ul>							O75503	Ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]	rs1800209	2
O75554	11193	<ul><li>K->R at 113: in a breast cancer sample; somatic mutation</ul>										2
O75558	8676	<ul><li>E->Q at 31: in dbSNP:rs1802414<li>R->Q at 49: in dbSNP:rs17073498<li>L->H at 204: in dbSNP:rs1133248<li>T->A at 277: in dbSNP:rs9496891</ul>									<li>rs1802414</li><li>rs9496891</li><li>rs1133248</li><li>rs17073498</li>	2
O75563	8935	<ul><li>A->S at 202: in dbSNP:rs1129771<li>S->T at 253: in dbSNP:rs17154402</ul>									<li>rs17154402</li><li>rs1129771</li>	2
O75569	8575	<ul><li>P->L at 222: in DYT16, MIM: 612067</ul>								Dystonia type 16 (DYT16) [MIM:612067]		2
O75570	9617	<ul><li>N->S at 2: in dbSNP:rs9532758<li>L->V at 324: in dbSNP:rs9566725<li>I->V at 407: in dbSNP:rs9315812</ul>									<li>rs9566725</li><li>rs9315812</li><li>rs9532758</li>	2
O75578	8515	<ul><li>R->Q at 381: in dbSNP:rs6665210<li>R->W at 668: in dbSNP:rs36073645<li>R->H at 691: in dbSNP:rs2274618<li>A->T at 702: in dbSNP:rs35515885<li>R->Q at 725: in dbSNP:rs2274616</ul>									<li>rs6665210</li><li>rs35515885</li><li>rs2274618</li><li>rs2274616</li><li>rs36073645</li>	2
O75581	4040	<ul><li>V->I at 483: in dbSNP:rs7975614<li>R->C at 611: in ADCAD2; impairs Wnt signaling in vitro, MIM: 610947<li>S->C at 817: in dbSNP:rs2302686, MIM: 610947<li>I->V at 1062: in dbSNP:rs2302685, MIM: 610947<li>R->H at 1401: in dbSNP:rs34815107, MIM: 610947</ul>								Autosomal dominant coronary artery disease type 2 (ADCAD2) [MIM:610947]	<li>rs34815107</li><li>rs2302685</li><li>rs2302686</li><li>rs7975614</li>	2
O75582	9252	<ul><li>H->R at 190: in dbSNP:rs34699345<li>D->N at 554: in dbSNP rsrs55911249<li>P->L at 574: in dbSNP rsrs34604933<li>Y->C at 599: in dbSNP rsrs55968863</ul>									<li>rs55968863</li><li>rs34699345</li><li>rs34604933</li><li>rs55911249</li>	2
O75592	23077	<ul><li>A->S at 1881: in dbSNP:rs35887505<li>V->M at 2588: in dbSNP:rs9574002</ul>									<li>rs35887505</li><li>rs9574002</li>	2
O75593	8928	<ul><li>S->T at 113: in colorectal cancer<li>T->S at 125: in colorectal cancer</ul>										2
O75594	8993	<ul><li>V->G at 34: in dbSNP:rs34180629</ul>									rs34180629	2
O75596	10143	<ul><li>Q->K at 197: in dbSNP:rs2072663</ul>									rs2072663	2
O75600	23464	<ul><li>R->C at 39: in dbSNP:rs710187<li>S->N at 100: in dbSNP:rs34468367</ul>									<li>rs710187</li><li>rs34468367</li>	2
O75602	9576	<ul><li>V->L at 106: in a breast cancer sample; somatic mutation<li>Q->R at 216: in dbSNP:rs7074847</ul>									rs7074847	2
O75603	9247	<ul><li>D->N at 53: in dbSNP:rs11963186<li>A->V at 117: in dbSNP:rs35786951<li>G->S at 203: in dbSNP:rs7744163<li>I->V at 227: in dbSNP:rs35395043</ul>									<li>rs7744163</li><li>rs11963186</li><li>rs35395043</li><li>rs35786951</li>	2
O75604	9099	<ul><li>R->Q at 174: in dbSNP:rs33929148<li>N->S at 383: in dbSNP:rs45533837</ul>									<li>rs33929148</li><li>rs45533837</li>	2
O75607	10360	<ul><li>S->N at 16: in dbSNP:rs34376117<li>N->I at 80: in dbSNP:rs2735420</ul>									<li>rs2735420</li><li>rs34376117</li>	2
O75610	10637	<ul><li>V->M at 57: in dbSNP:rs35273824<li>D->A at 322: in dbSNP:rs360057</ul>									<li>rs35273824</li><li>rs360057</li>	2
O75626	639	<ul><li>G->S at 38: in dbSNP:rs2185379<li>D->E at 167: in dbSNP:rs811925</ul>									<li>rs2185379</li><li>rs811925</li>	2
O75628	28954	<ul><li>H->R at 28: in dbSNP:rs1006459<li>P->A at 59: in dbSNP:rs2233829</ul>									<li>rs2233829</li><li>rs1006459</li>	2
O75631	7380	<ul><li>Q->L at 91: in dbSNP:rs6006979<li>A->P at 154: in dbSNP:rs1057353<li>G->D at 202: in renal adysplasia, MIM: 191830<li>P->L at 273: in renal adysplasia; with severe vesicoureteric reflux; normal targeting to the cell surface, MIM: 191830</ul>					cell surface	GO:0009928,GO:0009986		Renal adysplasia [MIM:191830]	<li>rs6006979</li><li>rs1057353</li>	2
O75635	8710	<ul><li>R->Q at 266: in dbSNP:rs17782413</ul>									rs17782413	2
O75638		<ul><li>R->Q at 6<li>E->Q at 89<li>W->R at 138</ul>										2
O75643	23020	<ul><li>F->L at 1736: in a colorectal cancer sample; somatic mutation</ul>										2
O75648	55687	<ul><li>A->S at 10: decreased activity; dbSNP:rs11090865<li>R->S at 25: in dbSNP:rs2272938<li>E->K at 148: in dbSNP:rs34012206<li>R->C at 398: in dbSNP:rs34152016</ul>									<li>rs11090865</li><li>rs34012206</li><li>rs34152016</li><li>rs2272938</li>	2
O75665	8481	<ul><li>S->F at 74: in OFD I, MIM: 311200<li>A->T at 79: in OFD I, MIM: 311200<li>KDD->FSY at 358-360: in OFD I, MIM: 311200<li>S->R at 435: in OFD I, MIM: 311200</ul>								Oral-facial-digital syndrome type I (OFD I) [MIM:311200]		2
O75674	10040	<ul><li>R->S at 108: in dbSNP:rs16955377</ul>									rs16955377	2
O75676	8986	<ul><li>S->L at 236: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>S->A at 758: in dbSNP rsrs17857342</ul>									rs17857342	2
O75677	5988	<ul><li>W->R at 94: in dbSNP:rs16987627<li>M->T at 127: in dbSNP:rs3804076<li>Missing  at 139: in RFPL1S</ul>									<li>rs3804076</li><li>rs16987627</li>	2
O75679	10738	<ul><li>M->T at 83: in dbSNP:rs16987625<li>L->M at 110: in dbSNP:rs9621427<li>D->N at 126: in dbSNP:rs9619258</ul>									<li>rs16987625</li><li>rs9621427</li><li>rs9619258</li>	2
O75683	6838	<ul><li>R->W at 163: in dbSNP:rs886090<li>T->M at 175: in dbSNP:rs886089<li>R->Q at 193: in dbSNP:rs34657219<li>N->H at 201: in dbSNP:rs35316446<li>T->M at 311: in dbSNP:rs1800867</ul>									<li>rs886089</li><li>rs1800867</li><li>rs34657219</li><li>rs886090</li><li>rs35316446</li>	2
O75689	11033	<ul><li>G->S at 241: in dbSNP:rs10256887</ul>									rs10256887	2
O75691	27340	<ul><li>M->T at 120: in dbSNP:rs2290723<li>S->C at 502: in dbSNP:rs4764643<li>K->I at 1645: in a breast cancer sample; somatic mutation<li>Q->L at 1882: in dbSNP:rs10082778<li>I->F at 2452: in a breast cancer sample; somatic mutation<li>E->Q at 2612: in dbSNP:rs1061436</ul>									<li>rs10082778</li><li>rs4764643</li><li>rs1061436</li><li>rs2290723</li>	2
O75695	6102	<ul><li>Missing  at 6: in RP2; loss of membrane association; enhances interaction with ARL3<li>C->Y at 67: in RP2, MIM: 312600<li>C->Y at 86: in RP2, MIM: 312600<li>P->L at 95: in RP2; uncertain pathogenicity, MIM: 312600<li>C->G at 108: in RP2, MIM: 312600<li>R->C at 118: in RP2, MIM: 312600<li>R->H at 118: in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location, MIM: 312600<li>R->L at 118: in RP2: in dbSNP rsrs28933687, MIM: 312600<li>Missing  at 137: in RP2, MIM: 312600<li>E->G at 138: in RP2; reduces affinity for ARL3 150-fold, MIM: 312600<li>K->R at 144: in dbSNP:rs3126141, MIM: 312600<li>L->P at 188: in RP2, MIM: 312600<li>L->R at 253: in RP2, MIM: 312600<li>R->W at 282: might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147, MIM: 312600<li>D->Y at 338: in dbSNP:rs1805148, MIM: 312600</ul>			GTPase activity	GO:0003924	<li>tubulin</li><li>membrane</li>	<li>GO:0045298</li><li>GO:0016020</li>	<li>P10664</li><li>Q2TBW6</li><li>Q5ZHN4</li><li>P36405</li><li>O75695</li><li>Q02804</li><li>P49626</li>	Retinitis pigmentosa type 2 (RP2) [MIM:312600]	<li>rs28933687</li><li>rs3126141</li><li>rs1805148</li><li>rs1805147</li>	2
O75711	11341	<ul><li>P->L at 42: in dbSNP:rs2306465</ul>									rs2306465	2
O75712	2707	<ul><li>G->D at 12: in EKV, MIM: 133200<li>G->R at 12: in EKV, MIM: 133200<li>R->W at 32: in dbSNP:rs1805063, MIM: 133200<li>R->P at 42: in EKV, MIM: 133200<li>C->S at 86: in EKV, MIM: 133200<li>F->L at 137: in EKV, MIM: 133200<li>I->V at 141: in DFNA2, MIM: 600101<li>E->K at 183: in DFNA2, MIM: 600101<li>V->I at 200, MIM: 600101</ul>								<li>Erythrokeratodermia variabilis (EKV) [MIM:133200]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 2 (DFNA2) [MIM:600101]</li>	rs1805063	2
O75715	2880	<ul><li>L->V at 85: in dbSNP:rs769188</ul>									rs769188	2
O75716	8576	<ul><li>H->R at 41: in dbSNP rsrs34799131<li>E->K at 55: in dbSNP rsrs35947471<li>I->V at 77: in dbSNP rsrs34282267<li>R->W at 266: in dbSNP:rs17849638<li>P->L at 277: in dbSNP rsrs35454203</ul>									<li>rs17849638</li><li>rs35454203</li><li>rs34282267</li><li>rs34799131</li><li>rs35947471</li>	2
O75717	11169	<ul><li>F->L at 338: in dbSNP:rs8020032<li>L->P at 411: in dbSNP:rs17128116</ul>									<li>rs17128116</li><li>rs8020032</li>	2
O75718	10491	<ul><li>L->P at 67: in OI; recessive form<li>E->D at 137: in dbSNP:rs17850371<li>L->V at 261: in dbSNP:rs1135127</ul>									<li>rs17850371</li><li>rs1135127</li>	2
O75746	8604	<ul><li>R->Q at 473: in dbSNP:rs35565687</ul>									rs35565687	2
O75751	6581	<ul><li>T->M at 44: in dbSNP:rs8187715<li>A->S at 116: in dbSNP:rs8187717</ul>									<li>rs8187715</li><li>rs8187717</li>	2
O75752	8706	<ul><li>D->N at 126: in dbSNP:rs2231257<li>E->A at 266: in an French with P2: in dbSNP rsrs28937582<li>G->R at 271: in an English with P1</ul>									<li>rs2231257</li><li>rs28937582</li>	2
O75762		<ul><li>R->C at 3: in dbSNP:rs13268757<li>R->T at 58: in dbSNP:rs16937976<li>E->K at 179: in dbSNP:rs920829<li>N->K at 186: in dbSNP:rs7819749<li>H->R at 1018: in dbSNP:rs959976</ul>									<li>rs13268757</li><li>rs16937976</li><li>rs959976</li><li>rs920829</li><li>rs7819749</li>	2
O75771	5892	<ul><li>R->S at 24: in dbSNP rsrs28363257<li>R->Q at 165: in dbSNP rsrs4796033<li>A->T at 225: in dbSNP rsrs28363282<li>R->Q at 232: in dbSNP rsrs28363283<li>E->G at 233: in dbSNP rsrs28363284</ul>									<li>rs4796033</li><li>rs28363257</li><li>rs28363282</li><li>rs28363284</li><li>rs28363283</li>	2
O75781	5064	<ul><li>T->A at 107: in dbSNP:rs1050457</ul>									rs1050457	2
O75787	10159	<ul><li>P->A at 90: in dbSNP:rs9014<li>A->P at 290: in dbSNP:rs35798522</ul>									<li>rs35798522</li><li>rs9014</li>	2
O75791	9402	<ul><li>L->F at 319: in dbSNP:rs12759</ul>									rs12759	2
O75792	10535	<ul><li>G->S at 37: in AGS4; strongly impairs enzyme activity but not interation with RNASEH2B and RNASEH2C, MIM: 610333<li>L->S at 202: in dbSNP:rs7247284, MIM: 610333<li>A->G at 258: in dbSNP:rs15389, MIM: 610333</ul>							<li>Q9Y4H4</li><li>Q8TDP1</li><li>Q3ZBI3</li><li>Q2M2U4</li><li>O75792</li><li>Q5TBB1</li>	Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	<li>rs7247284</li><li>rs15389</li>	2
O75800	51364	<ul><li>R->Q at 407: in NSCLC</ul>										2
O75807	23645	<ul><li>R->H at 31: in dbSNP:rs564196<li>A->T at 32: in dbSNP:rs3786734<li>V->A at 199: in dbSNP:rs611251<li>R->P at 251: in dbSNP:rs557806<li>K->E at 277: in dbSNP:rs610308<li>A->P at 316: in dbSNP:rs556052<li>A->V at 381: in dbSNP:rs1050166<li>R->S at 476: in dbSNP:rs35087747<li>R->C at 594: in dbSNP:rs2270946<li>T->A at 597: in dbSNP:rs500079</ul>									<li>rs610308</li><li>rs564196</li><li>rs35087747</li><li>rs611251</li><li>rs500079</li><li>rs557806</li><li>rs1050166</li><li>rs556052</li><li>rs2270946</li><li>rs3786734</li>	2
O75815	8412	<ul><li>E->G at 464: in dbSNP:rs12062278<li>Q->H at 593: in dbSNP:rs17110107</ul>									<li>rs12062278</li><li>rs17110107</li>	2
O75820	7743	<ul><li>R->K at 221: in dbSNP:rs10989492</ul>									rs10989492	2
O75822	8669	<ul><li>A->T at 141: in dbSNP:rs2303578</ul>									rs2303578	2
O75828	874	<ul><li>C->Y at 4: in dbSNP:rs8133052<li>L->V at 84: in dbSNP:rs9282628<li>V->I at 93: in dbSNP:rs2835285<li>P->S at 131: in dbSNP:rs16993929<li>M->L at 235: in dbSNP:rs4987121<li>V->M at 244: in dbSNP:rs1056892</ul>									<li>rs16993929</li><li>rs2835285</li><li>rs4987121</li><li>rs9282628</li><li>rs8133052</li><li>rs1056892</li>	2
O75829	11061	<ul><li>F->L at 116: in dbSNP:rs3742298<li>V->I at 175: in dbSNP:rs7330220</ul>									<li>rs3742298</li><li>rs7330220</li>	2
O75830	5276	<ul><li>L->V at 6: in dbSNP:rs17246389<li>E->G at 148: in dbSNP:rs9841174</ul>									<li>rs17246389</li><li>rs9841174</li>	2
O75841	7348	<ul><li>R->Q at 113: in dbSNP:rs9840317</ul>									rs9840317	2
O75843	8906	<ul><li>S->F at 377: in dbSNP:rs12897422</ul>									rs12897422	2
O75844	10269	<ul><li>T->A at 137: in dbSNP:rs17853725<li>W->R at 340: in MADB, MIM: 608612</ul>								Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]	rs17853725	2
O75845	6309	<ul><li>R->Q at 29: in lathosterolosis, MIM: 607330<li>Y->S at 46: in lathosterolosis, MIM: 607330<li>G->D at 211: in lathosterolosis, MIM: 607330</ul>								Lathosterolosis [MIM:607330]		2
O75871	1089	<ul><li>H->D at 29: in dbSNP:rs1126454<li>K->R at 69: in dbSNP:rs3848568</ul>									<li>rs3848568</li><li>rs1126454</li>	2
O75874	3417	<ul><li>R->C at 132: in a colorectal cancer sample; somatic mutation<li>V->I at 178: in dbSNP:rs34218846</ul>									rs34218846	2
O75879	5188	<ul><li>A->D at 30: in dbSNP:rs11556167</ul>									rs11556167	2
O75880	6341	<ul><li>P->S at 58: in dbSNP:rs1802083<li>P->L at 174: in COX deficiency, MIM: 220110</ul>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]	rs1802083	2
O75881	9420	<ul><li>G->R at 57: in SPG5A, MIM: 270800<li>F->S at 216: in SPG5A, MIM: 270800<li>S->F at 363: in SPG5A, MIM: 270800<li>R->H at 417: in SPG5A, MIM: 270800</ul>								Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]		2
O75882	8455	<ul><li>D->A at 303: in dbSNP:rs6107308<li>I->T at 426: in dbSNP:rs17782078<li>R->K at 1152: in dbSNP:rs3886999<li>V->I at 1226: in dbSNP:rs12329487</ul>									<li>rs3886999</li><li>rs6107308</li><li>rs17782078</li><li>rs12329487</li>	2
O75888	8741	<ul><li>G->R at 67: in dbSNP:rs11552708<li>N->S at 96: in dbSNP:rs3803800</ul>									<li>rs11552708</li><li>rs3803800</li>	2
O75891	10840	<ul><li>L->P at 254: in dbSNP:rs3796191<li>V->F at 330: in dbSNP:rs2886059<li>E->A at 429: in dbSNP:rs9282691<li>A->T at 436: in dbSNP:rs9282692<li>A->V at 436: in dbSNP:rs9282693<li>S->N at 448: in dbSNP:rs9282697<li>S->G at 481: in dbSNP:rs2276724<li>A->V at 511: in a colorectal cancer sample; somatic mutation<li>D->G at 793: in dbSNP:rs1127717<li>E->K at 803: in dbSNP:rs9282689<li>I->V at 812: in dbSNP:rs4646750</ul>									<li>rs9282691</li><li>rs9282692</li><li>rs2886059</li><li>rs3796191</li><li>rs9282693</li><li>rs9282689</li><li>rs1127717</li><li>rs9282697</li><li>rs4646750</li><li>rs2276724</li>	2
O75897	27233	<ul><li>D->E at 5: in dbSNP:rs1402467</ul>									rs1402467	2
O75899	9568	<ul><li>L->P at 163: in dbSNP:rs35449008<li>Y->F at 628<li>T->A at 869: in dbSNP:rs10985765</ul>									<li>rs10985765</li><li>rs35449008</li>	2
O75900	8510	<ul><li>F->L at 91: in dbSNP:rs1139033</ul>									rs1139033	2
O75901	9182	<ul><li>A->T at 285: in dbSNP:rs7397266</ul>									rs7397266	2
O75908	8435	<ul><li>E->G at 14: in dbSNP:rs9658625<li>T->I at 254: in dbSNP:rs2272296</ul>									<li>rs9658625</li><li>rs2272296</li>	2
O75912	9162	<ul><li>L->F at 153</ul>										2
O75914	5063	<ul><li>R->C at 67: in MRX30, MIM: 300558<li>A->E at 380: in MRX30, MIM: 300558<li>T->S at 440: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 300558</ul>								Mental retardation X-linked type 30 (MRX30) [MIM:300558]		2
O75916	8787	<ul><li>S->L at 258: in dbSNP:rs12452285<li>W->R at 299: in PERRS, MIM: 608415</ul>								Prolonged electroretinal response suppression (PERRS) [MIM:608415]	rs12452285	2
O75923	8291	<ul><li>A->E at 170: in isolated hyperCKemia: in dbSNP rsrs34999029<li>L->V at 189: in dbSNP:rs13407355<li>R->W at 253: in isolated hyperCKemia<li>L->P at 266: in pseudometabolic myopathy<li>G->E at 299: in MM, MIM: 254130<li>C->W at 456: in MM, MIM: 254130<li>R->W at 555: in LGMD2B and MM, MIM: 254130<li>P->R at 791: in MM and LGMD2B, MIM: 254130<li>I->V at 834: in dbSNP:rs34671418, MIM: 254130<li>R->W at 959: in LGMD2B, MIM: 253601<li>R->Q at 1022: in dbSNP:rs34211915, MIM: 253601<li>R->Q at 1038: in LGMD2B, MIM: 253601<li>R->H at 1046: in MM; dbNP:28939700: in dbSNP rsrs28939700, MIM: 254130<li>E->EAE at 1065, MIM: 254130<li>A->P at 1072: in dbSNP:rs34660230, MIM: 254130<li>I->M at 1208: in LGMD2B, MIM: 253601<li>R->H at 1242: in dbSNP:rs2303603, MIM: 253601<li>L->V at 1276: in proximodistal myopathy, MIM: 253601<li>I->V at 1298: in MM and LGMD2B, MIM: 254130<li>I->M at 1325: in a breast cancer sample; somatic mutation, MIM: 254130<li>R->L at 1331, MIM: 254130<li>E->K at 1335: in LGMD2B, MIM: 253601<li>L->V at 1349: in a breast cancer sample; somatic mutation, MIM: 253601<li>N->S at 1351, MIM: 253601<li>R->Q at 1693: in MM, MIM: 254130<li>E->V at 1748, MIM: 254130<li>H->R at 1857: in MM, MIM: 254130<li>R->Q at 2000: in MM, MIM: 254130<li>R->C at 2042: in MM and LGMD2B, MIM: 254130</ul>								<li>Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]</li><li>Miyoshi myopathy (MM) [MIM:254130]</li>	<li>rs28939700</li><li>rs2303603</li><li>rs34671418</li><li>rs34660230</li><li>rs13407355</li><li>rs34999029</li><li>rs34211915</li>	2
O75934	10286	<ul><li>N->S at 139: in a colorectal cancer sample; somatic mutation</ul>										2
O75943	5884	<ul><li>V->I at 32: in dbSNP:rs17229831<li>R->L at 487: in dbSNP:rs17236478<li>K->E at 535: in dbSNP:rs17236485<li>L->R at 557: in dbSNP:rs1045051</ul>									<li>rs1045051</li><li>rs17229831</li><li>rs17236485</li><li>rs17236478</li>	2
O75949	27112	<ul><li>L->P at 172: in dbSNP:rs1171942</ul>									rs1171942	2
O75951	57151	<ul><li>F->S at 139: in dbSNP:rs9754</ul>									rs9754	2
O75952	26256	<ul><li>T->M at 74: in dbSNP:rs3786417<li>I->V at 186: in dbSNP:rs35118855<li>K->R at 448: in dbSNP:rs1049682<li>S->A at 490: in dbSNP:rs1049683</ul>									<li>rs35118855</li><li>rs1049683</li><li>rs3786417</li><li>rs1049682</li>	2
O75955	10211	<ul><li>S->N at 52: in dbSNP:rs3180825</ul>									rs3180825	2
O75962	7204	<ul><li>S->T at 232<li>T->M at 1585<li>H->R at 1631<li>V->M at 1919: in a metastatic melanoma sample; somatic mutation<li>T->M at 2183</ul>										2
O75969	10566	<ul><li>R->C at 831: in a colorectal cancer sample; somatic mutation</ul>										2
O75976	1362	<ul><li>K->E at 36: in dbSNP:rs17857300<li>E->G at 454: in dbSNP:rs17857301<li>H->N at 505: in dbSNP:rs17854355<li>T->I at 899: in dbSNP:rs1860543</ul>									<li>rs17854355</li><li>rs1860543</li><li>rs17857301</li><li>rs17857300</li>	2
O76001		<ul><li>T->A at 113: in allele 6M1-3*02<li>R->Q at 226: in allele 6M1-3*02<li>V->I at 228: in allele 6M1-3*03<li>I->M at 261: in allele 6M1-3*03 and allele 6M1-3*04</ul>										2
O76002	26707	<ul><li>H->Y at 74: in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3116855<li>A->T at 111: in allele 6M1-6*03; dbSNP:rs3129157<li>A->V at 146: in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3116856<li>A->T at 218: in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3130743</ul>									<li>rs3129157</li><li>rs3130743</li><li>rs3116855</li><li>rs3116856</li>	2
O76003	10539	<ul><li>Q->H at 21: in dbSNP:rs13991<li>P->S at 123: in dbSNP:rs2274217</ul>									<li>rs13991</li><li>rs2274217</li>	2
O76013	8689	<ul><li>A->V at 119: in dbSNP:rs8082683<li>Q->R at 126: in dbSNP:rs8069943<li>R->Q at 179: in dbSNP:rs9675246<li>R->C at 277: in dbSNP:rs9904102<li>T->M at 315: in dbSNP:rs2301354<li>N->T at 357: in dbSNP:rs11657323</ul>									<li>rs11657323</li><li>rs9904102</li><li>rs8069943</li><li>rs9675246</li><li>rs8082683</li><li>rs2301354</li>	2
O76014	8688	<ul><li>G->C at 13: in dbSNP:rs9910204<li>N->S at 39: in dbSNP:rs9916724<li>T->A at 72: in dbSNP:rs9916484<li>S->C at 73: in dbSNP:rs9916475<li>A->V at 217: in dbSNP:rs16966811<li>A->D at 306: in dbSNP:rs2071607<li>S->F at 421: in dbSNP:rs35371972<li>T->M at 422: in dbSNP:rs8071814<li>P->S at 434: in dbSNP:rs17737019</ul>									<li>rs9916484</li><li>rs9910204</li><li>rs17737019</li><li>rs16966811</li><li>rs9916475</li><li>rs2071607</li><li>rs8071814</li><li>rs9916724</li><li>rs35371972</li>	2
O76024	7466	<ul><li>P->L at 16: in dbSNP:rs34653805<li>A->V at 58: in WFS, MIM: 222300<li>G->R at 107, MIM: 222300<li>Y->N at 110: in WFS, MIM: 222300<li>A->T at 126: in WFS, MIM: 222300<li>A->T at 133: in WFS, MIM: 222300<li>E->K at 169: in WFS, MIM: 222300<li>K->Q at 193: in dbSNP:rs41264699, MIM: 222300<li>P->S at 292: in WFS, MIM: 222300<li>I->S at 296: in WFS, MIM: 222300<li>A->V at 326, MIM: 222300<li>I->V at 333: in dbSNP:rs1801212, MIM: 222300<li>Missing  at 350: in WFS, MIM: 222300<li>Missing  at 354: in WFS, MIM: 222300<li>Missing  at 414: in WFS, MIM: 222300<li>Missing  at 415: in WFS, MIM: 222300<li>G->R at 437: in WFS, MIM: 222300<li>S->I at 443: in WFS, MIM: 222300<li>R->H at 456: in dbSNP:rs1801208, MIM: 222300<li>R->S at 457: in WFS, MIM: 222300<li>Missing  at 461-463: in WFS, MIM: 222300<li>Missing  at 468: in WFS, MIM: 222300<li>P->L at 504: in WFS; dbSNP:rs28937892, MIM: 222300<li>Missing  at 508-512: in WFS, MIM: 222300<li>Missing  at 540: in WFS, MIM: 222300<li>A->T at 559: rare polymorphism; could be a risk factor for affective disorder: in dbSNP rsrs55814513, MIM: 222300<li>Missing  at 567-568: in WFS, MIM: 222300<li>G->S at 576: in dbSNP:rs1805069, MIM: 222300<li>A->V at 602: in dbSNP:rs2230720, MIM: 222300<li>R->H at 611: in dbSNP:rs734312, MIM: 222300<li>R->W at 629: in WFS, MIM: 222300<li>K->T at 634: in DFNA6, MIM: 600965<li>R->C at 653: in a patient with type 2 diabetes, MIM: 600965<li>Y->C at 669: in WFS, MIM: 222300<li>G->R at 674, MIM: 222300<li>A->V at 684, MIM: 222300<li>C->R at 690: in WFS, MIM: 222300<li>G->V at 695: in WFS; dbSNP:rs28937891, MIM: 222300<li>T->M at 699: in DFNA6: in dbSNP rsrs28937894, MIM: 600965<li>W->C at 700: in WFS, MIM: 222300<li>R->C at 708, MIM: 222300<li>A->T at 716: in DFNA6, MIM: 600965<li>I->V at 720: in dbSNP:rs1805070, MIM: 600965<li>P->L at 724: in WFS; dbSNP:rs28937890, MIM: 222300<li>G->S at 736: in WFS, MIM: 222300<li>E->K at 737, MIM: 222300<li>V->M at 779: in DFNA6, MIM: 600965<li>G->R at 780: in WFS, MIM: 222300<li>I->V at 802, MIM: 222300<li>R->C at 818: in WFS; dbSNP:rs35932623, MIM: 222300<li>L->P at 829: in DFNA6, MIM: 600965<li>G->D at 831: in DFNA6: in dbSNP rsrs28937895, MIM: 600965<li>E->K at 864: in Wolfram-like syndrome; autosomal dominant, MIM: 600965<li>V->M at 871, MIM: 600965<li>P->L at 885: in WFS; mild form, MIM: 222300</ul>								<li>Non-syndromic sensorineural deafness autosomal dominant type 6 (DFNA6) [MIM:600965]</li><li>Wolfram syndrome (WFS) [MIM:222300]</li>	<li>rs55814513</li><li>rs1805070</li><li>rs41264699</li><li>rs28937892</li><li>rs28937891</li><li>rs28937890</li><li>rs35932623</li><li>rs1801208</li><li>rs1801212</li><li>rs734312</li><li>rs28937895</li><li>rs28937894</li><li>rs34653805</li><li>rs2230720</li><li>rs1805069</li>	2
O76027	8416	<ul><li>A->T at 28: in dbSNP:rs16832595<li>T->A at 114: in dbSNP:rs7536645<li>A->T at 119: in dbSNP:rs16832602<li>D->G at 166: in dbSNP:rs267733<li>R->Q at 225: in dbSNP:rs7542365<li>R->Q at 232: in dbSNP:rs7542365</ul>									<li>rs7536645</li><li>rs7542365</li><li>rs267733</li><li>rs16832595</li><li>rs16832602</li>	2
O76031	10845	<ul><li>I->T at 488: in dbSNP:rs35754835</ul>									rs35754835	2
O76036	9437	<ul><li>K->Q at 82: in dbSNP:rs2278428<li>D->Y at 87: in a colorectal cancer sample; somatic mutation</ul>									rs2278428	2
O76038	10590	<ul><li>A->V at 216: in dbSNP:rs6942245</ul>									rs6942245	2
O76039	6792	<ul><li>C->F at 152: in atypical CDKL5-related Rett syndrome, MIM: 300672<li>R->S at 175: in atypical CDKL5-related Rett syndrome, MIM: 300672<li>P->L at 180: in ISSX, MIM: 308350<li>N->H at 368: in a colorectal cancer sample; somatic mutation, MIM: 308350<li>A->T at 374: in a metastatic melanoma sample; somatic mutation, MIM: 308350<li>P->Q at 574: in an ovarian serous carcinoma sample; somatic mutation, MIM: 308350<li>T->A at 734: in dbSNP rsrs55803460, MIM: 308350<li>Q->P at 791: in dbSNP:rs35478150, MIM: 308350<li>V->A at 793: in ISSX; uncertain pathogenicity, MIM: 308350<li>V->M at 999: in dbSNP:rs35693326, MIM: 308350<li>E->G at 1023: in dbSNP rsrs34166184, MIM: 308350</ul>							O76039	<li>X-linked infantile spasm syndrome (ISSX) [MIM:308350]</li><li>Atypical CDKL5-related Rett syndrome [MIM:300672]</li>	<li>rs55803460</li><li>rs35693326</li><li>rs34166184</li><li>rs35478150</li>	2
O76041	10529	<ul><li>Q->H at 187<li>A->D at 219: in dbSNP:rs2296610<li>M->V at 351: in dbSNP:rs4025981<li>D->H at 378: in dbSNP:rs41277370<li>N->K at 654: associated with non-familial IDC in the homozygous state; dbSNP:rs4748728<li>T->A at 728</ul>									<li>rs4748728</li><li>rs4025981</li><li>rs2296610</li><li>rs41277370</li>	2
O76054	23541	<ul><li>R->K at 11: in dbSNP:rs757660</ul>									rs757660	2
O76062	7108	<ul><li>A->V at 119: in dbSNP:rs11539360<li>T->I at 299: in dbSNP:rs1129195</ul>									<li>rs1129195</li><li>rs11539360</li>	2
O76064	9025	<ul><li>A->T at 162: in dbSNP:rs34338974<li>I->V at 473: in dbSNP:rs1139944</ul>									<li>rs1139944</li><li>rs34338974</li>	2
O76070	6623	<ul><li>E->V at 110: in dbSNP:rs9864</ul>									rs9864	2
O76074	8654	<ul><li>V->A at 93: in dbSNP:rs3733526<li>S->A at 181: in dbSNP:rs17051276</ul>									<li>rs3733526</li><li>rs17051276</li>	2
O76075	1677	<ul><li>R->K at 196: in dbSNP:rs12738235<li>K->R at 277: in dbSNP:rs12564400</ul>									<li>rs12738235</li><li>rs12564400</li>	2
O76076	8839	<ul><li>R->Q at 59: in dbSNP:rs33932543</ul>									rs33932543	2
O76082	6584	<ul><li>F->L at 17: in dbSNP rsrs11568520<li>L->F at 144: in dbSNP:rs10040427<li>R->Q at 169: in CDSP, MIM: 212140<li>M->L at 179: in CDSP, MIM: 212140<li>Y->C at 211: in CDSP: in dbSNP rsrs28939705, MIM: 212140<li>W->C at 283: in CDSP; reduces L-carnitine uptake, MIM: 212140<li>W->R at 283: in CDSP, MIM: 212140<li>V->F at 446: in CDSP, MIM: 212140<li>Y->D at 449: in dbSNP:rs11568514, MIM: 212140<li>E->K at 452: in CDSP, MIM: 212140<li>S->C at 467: in CDSP; reduces L-carnitine uptake: in dbSNP rsrs60376624, MIM: 212140<li>P->L at 478: in CDSP; loss of carnitine transport but stimulated organic cation transport, MIM: 212140<li>V->F at 481: in dbSNP rsrs11568513, MIM: 212140<li>V->I at 481: in dbSNP rsrs11568513, MIM: 212140<li>F->L at 508: in dbSNP rsrs11568521, MIM: 212140<li>M->V at 530: in dbSNP rsrs11568524, MIM: 212140<li>P->S at 549: in dbSNP:rs11568525, MIM: 212140</ul>	<li>organic cation transport</li><li>carnitine transport</li>	<li>GO:0015695</li><li>GO:0015879</li>						Systemic primary carnitine deficiency (CDSP) [MIM:212140]	<li>rs11568521</li><li>rs11568524</li><li>rs11568525</li><li>rs60376624</li><li>rs11568520</li><li>rs10040427</li><li>rs11568514</li><li>rs28939705</li><li>rs11568513</li>	2
O76090	7439	<ul><li>T->P at 6: in VMD2 and AVMD: in dbSNP rsrs28940275, MIM: 153700<li>T->R at 6: in VMD2, MIM: 153700<li>V->A at 9: in VMD2, MIM: 153700<li>V->M at 9: in VMD2: in dbSNP rsrs28940276, MIM: 153700<li>A->T at 10: in VMD2, MIM: 153700<li>A->V at 10: in VMD2, MIM: 153700<li>N->I at 11: in VMD2, MIM: 153700<li>R->H at 13: in VMD2, MIM: 153700<li>S->F at 16: in VMD2, MIM: 153700<li>F->C at 17: in VMD2, MIM: 153700<li>L->V at 21: in VMD2, MIM: 153700<li>W->C at 24: in VMD2, MIM: 153700<li>R->Q at 25: in VMD2, MIM: 153700<li>R->W at 25: in VMD2, MIM: 153700<li>G->R at 26: in VMD2, MIM: 153700<li>S->R at 27: in VMD2, MIM: 153700<li>Y->H at 29: in VMD2, MIM: 153700<li>K->R at 30: in VMD2, MIM: 153700<li>L->P at 41: in VMD2 and ARB, MIM: 153700<li>R->H at 47: in AVMD: in dbSNP rsrs28940278, MIM: 608161<li>Q->L at 58: in VMD2, MIM: 153700<li>L->V at 67, MIM: 153700<li>I->N at 73: in VMD2, MIM: 153700<li>F->L at 80: in VMD2, MIM: 153700<li>L->V at 82: in VMD2, MIM: 153700<li>Y->H at 85: in VMD2; dbSNP:rs28940274, MIM: 153700<li>V->A at 89: in VMD2, MIM: 153700<li>T->I at 91: in VMD2, MIM: 153700<li>R->C at 92: in VMD2, MIM: 153700<li>R->H at 92: in VMD2, MIM: 153700<li>R->S at 92: in VMD2, MIM: 153700<li>W->C at 93: in VMD2; dbSNP:rs28940273, MIM: 153700<li>Q->H at 96: in VMD2, MIM: 153700<li>N->K at 99: in VMD2, MIM: 153700<li>L->R at 100: in VMD2, MIM: 153700<li>P->T at 101: in VMD2, MIM: 153700<li>W->R at 102: in VMD2, MIM: 153700<li>D->E at 104: in VMD2, MIM: 153700<li>D->H at 104: in VMD2, MIM: 153700<li>R->C at 105: in age-related macular degeneration, MIM: 153700<li>F->L at 113: in VMD2, MIM: 153700<li>E->Q at 119: in MCDCA; sporadic; dbSNP:rs1805142, MIM: 153870<li>N->K at 133: in VMD2, MIM: 153700<li>G->S at 135: in VMD2, MIM: 153700<li>L->R at 140: in VMD2, MIM: 153700<li>R->H at 141: in VMD2 and ARB; reduced whole-cell conductance, MIM: 153700<li>A->K at 146: in AVMD; sporadic; requires 2 nucleotide substitutions, MIM: 608161<li>P->A at 152: in ARB; reduced whole-cell conductance, MIM: 611809<li>A->V at 195: in VMD2, MIM: 153700<li>I->T at 201: in VMD2, MIM: 153700<li>L->I at 207: in VMD2, MIM: 153700<li>S->N at 209: in VMD2, MIM: 153700<li>T->I at 216: in a sporadic case of age-related macular degeneration, MIM: 153700<li>R->C at 218: in VMD2, MIM: 153700<li>R->H at 218: in VMD2, MIM: 153700<li>R->Q at 218: in VMD2, MIM: 153700<li>R->S at 218: in VMD2, MIM: 153700<li>C->W at 221: in VMD2, MIM: 153700<li>G->V at 222: in Leber congenital amaurosis, MIM: 153700<li>L->M at 224: in VMD2, MIM: 153700<li>L->P at 224: in VMD2, MIM: 153700<li>Y->C at 227: in VMD2; dbSNP:rs28941469, MIM: 153700<li>Y->N at 227: in VMD2: in dbSNP rsrs28941469, MIM: 153700<li>S->R at 231: in VMD2, MIM: 153700<li>V->L at 235: in VMD2, MIM: 153700<li>V->M at 235: in VMD2, MIM: 153700<li>T->R at 237: in VMD2, MIM: 153700<li>T->N at 241: in VMD2, MIM: 153700<li>A->T at 243: in VMD2; dbSNP:rs28940570, MIM: 153700<li>A->V at 243: in VMD2 and AVMD: in dbSNP rsrs28940570, MIM: 153700<li>V->I at 275: in age-related macular degeneration, MIM: 153700<li>F->L at 276: in VMD2, MIM: 153700<li>Q->K at 293: in VMD2, MIM: 153700<li>L->V at 294: in VMD2, MIM: 153700<li>I->T at 295: in VMD2, MIM: 153700<li>Missing  at 295: in VMD2, MIM: 153700<li>N->H at 296: in VMD2, MIM: 153700<li>N->S at 296: in VMD2, MIM: 153700<li>P->A at 297: in VMD2, MIM: 153700<li>P->S at 297: in VMD2; dbSNP:rs1805143, MIM: 153700<li>F->S at 298: in VMD2, MIM: 153700<li>G->E at 299: in VMD2: in dbSNP rsrs28941468, MIM: 153700<li>E->D at 300: in VMD2; dbSNP:rs1805144, MIM: 153700<li>E->K at 300: in VMD2, MIM: 153700<li>D->E at 301: in VMD2, MIM: 153700<li>D->N at 301: in VMD2, MIM: 153700<li>D->G at 302: in VMD2, MIM: 153700<li>D->H at 302: in VMD2, MIM: 153700<li>D->V at 302: in VMD2, MIM: 153700<li>D->E at 303: in VMD2, MIM: 153700<li>F->S at 305: in VMD2, MIM: 153700<li>E->D at 306: in VMD2, MIM: 153700<li>E->G at 306: in VMD2, MIM: 153700<li>T->A at 307: in VMD2, MIM: 153700<li>T->I at 307: in VMD2, MIM: 153700<li>N->S at 308: in VMD2, MIM: 153700<li>I->T at 310: in VMD2, MIM: 153700<li>V->G at 311: in VMD2, MIM: 153700<li>D->N at 312: in AVMD and ARB, MIM: 611809<li>V->M at 317: in ARB, MIM: 611809<li>M->T at 325: in ARB, MIM: 611809<li>A->V at 357: in dbSNP:rs17854138, MIM: 611809<li>E->A at 525, MIM: 611809<li>E->K at 557, MIM: 611809<li>T->A at 561, MIM: 611809<li>L->F at 567: in a sporadic case of age-related macular degeneration; could be a rare polymorphism, MIM: 611809<li>E->V at 578: in dbSNP:rs1800010, MIM: 611809</ul>							<li>O76090</li><li>Q6UY87</li><li>Q8WMR7</li>	<li>Concentric annular macular dystrophy (MCDCA) [MIM:153870]</li><li>Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]</li><li>Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]</li><li>Autosomal recessive bestrophinopathy (ARB) [MIM:611809]</li>	<li>rs28940276</li><li>rs28940275</li><li>rs28940274</li><li>rs28940273</li><li>rs1800010</li><li>rs28940278</li><li>rs28941469</li><li>rs28941468</li><li>rs1805144</li><li>rs1805142</li><li>rs28940570</li><li>rs17854138</li><li>rs1805143</li>	2
O76095	10899	<ul><li>L->F at 16: in dbSNP:rs34686244</ul>									rs34686244	2
O76099	26664	<ul><li>S->G at 99: in dbSNP:rs17230134<li>V->I at 126: in dbSNP:rs10415562<li>E->K at 171: in dbSNP:rs10415312<li>S->P at 210: in dbSNP:rs16979912</ul>									<li>rs10415312</li><li>rs16979912</li><li>rs17230134</li><li>rs10415562</li>	2
O76100	390892	<ul><li>M->T at 151: in dbSNP:rs12972670<li>Q->E at 183: in dbSNP:rs9305052<li>I->L at 225: in dbSNP:rs11880955<li>A->T at 273: in dbSNP:rs10221530</ul>									<li>rs9305052</li><li>rs12972670</li><li>rs11880955</li><li>rs10221530</li>	2
O77932	1797	<ul><li>S->T at 28: in dbSNP:rs1056694<li>D->E at 63: in dbSNP:rs2746396<li>H->Q at 261: in dbSNP:rs17207867<li>A->V at 332: in dbSNP:rs12205138</ul>									<li>rs1056694</li><li>rs2746396</li><li>rs12205138</li><li>rs17207867</li>	2
O94759	7226	<ul><li>N->K at 52: in dbSNP rsrs45625933<li>V->I at 166: in dbSNP rsrs45544142<li>V->M at 385: in dbSNP rsrs45485992<li>D->E at 543: in dbSNP:rs1556314<li>D->E at 780: in dbSNP rsrs9974927<li>Q->R at 1189: in dbSNP rsrs9978351<li>R->W at 1199: in dbSNP rsrs45611537<li>S->G at 1201: in dbSNP rsrs45519835<li>N->S at 1249: in dbSNP rsrs45513700<li>T->M at 1347: in dbSNP rsrs45589233<li>E->K at 1359: in dbSNP rsrs45570639<li>I->M at 1368: in dbSNP rsrs45613636<li>A->S at 1438: in dbSNP rsrs45578242</ul>									<li>rs45519835</li><li>rs45613636</li><li>rs45589233</li><li>rs45544142</li><li>rs45611537</li><li>rs45513700</li><li>rs45625933</li><li>rs45485992</li><li>rs45570639</li><li>rs9974927</li><li>rs9978351</li><li>rs1556314</li><li>rs45578242</li>	2
O94761	9401	<ul><li>Q->R at 54: in dbSNP rsrs35198096<li>E->G at 71: in dbSNP rsrs34642881<li>P->S at 92: in dbSNP rsrs2721190<li>G->S at 189: in dbSNP rsrs34371341<li>E->D at 267: common polymorphism: in dbSNP rsrs4244612<li>A->T at 273: in dbSNP rsrs34103564<li>E->K at 301: in dbSNP rsrs34633809<li>R->Q at 355<li>P->S at 441<li>R->C at 522: in dbSNP rsrs35407712<li>R->H at 522: in dbSNP rsrs35842750<li>S->T at 523<li>P->L at 591: in dbSNP rsrs2721191<li>P->S at 793<li>V->M at 799<li>Missing at 857-858<li>P->T at 964<li>E->K at 976<li>R->W at 1004<li>R->Q at 1005: common polymorphism<li>R->Q at 1021<li>R->W at 1021: in BGS, MIM: 218600<li>A->T at 1045, MIM: 218600<li>G->D at 1105, MIM: 218600<li>G->S at 1105, MIM: 218600<li>R->H at 1106, MIM: 218600<li>G->R at 1113, MIM: 218600<li>S->F at 1148, MIM: 218600</ul>								Baller-Gerold syndrome (BGS) [MIM:218600]	<li>rs35842750</li><li>rs34371341</li><li>rs34642881</li><li>rs34633809</li><li>rs4244612</li><li>rs2721190</li><li>rs35198096</li><li>rs2721191</li><li>rs35407712</li><li>rs34103564</li>	2
O94762	9400	<ul><li>D->G at 480: in dbSNP:rs820196<li>S->N at 628: in dbSNP:rs35566780</ul>									<li>rs35566780</li><li>rs820196</li>	2
O94768	9262	<ul><li>S->F at 320: in dbSNP rsrs34740616</ul>									rs34740616	2
O94769	1842	<ul><li>Q->P at 56: in dbSNP:rs10120210<li>T->S at 109: in dbSNP:rs35496743<li>R->Q at 204: in dbSNP:rs34758505</ul>									<li>rs10120210</li><li>rs34758505</li><li>rs35496743</li>	2
O94777	8818	<ul><li>T->S at 76: in dbSNP:rs7997</ul>									rs7997	2
O94778	343	<ul><li>I->M at 229: in a breast cancer sample; somatic mutation<li>A->P at 260: in dbSNP:rs2287798</ul>									rs2287798	2
O94779	53942	<ul><li>S->A at 23: in dbSNP:rs10790978<li>L->R at 70: in dbSNP:rs7125822<li>N->S at 81: in dbSNP:rs10893933<li>I->V at 530: in dbSNP:rs11223168<li>Y->F at 1065: in dbSNP:rs1944169<li>S->T at 1079: in dbSNP:rs1216183<li>M->V at 1094: in dbSNP:rs35208161</ul>									<li>rs35208161</li><li>rs10790978</li><li>rs7125822</li><li>rs10893933</li><li>rs1216183</li><li>rs1944169</li><li>rs11223168</li>	2
O94788	8854	<ul><li>E->G at 50: in dbSNP:rs34266719<li>A->V at 110: in dbSNP rsrs35365164<li>V->I at 348: in dbSNP:rs4646626<li>E->K at 436: in dbSNP rsrs34744827</ul>									<li>rs35365164</li><li>rs34744827</li><li>rs4646626</li><li>rs34266719</li>	2
O94804	6793	<ul><li>R->C at 268: in dbSNP rsrs35826078<li>K->E at 277: in a testicular germ cell tumor; somatic mutation<li>R->W at 322: in dbSNP rsrs56214442<li>T->I at 336: in dbSNP rsrs55972616<li>N->S at 467: in dbSNP rsrs56063773<li>P->L at 480: in dbSNP:rs34505340<li>P->L at 520: in dbSNP:rs17074311<li>M->T at 710: in dbSNP rsrs34936670<li>S->L at 853: in dbSNP rsrs56066852<li>S->T at 905: in dbSNP rsrs55791916<li>S->N at 942: in dbSNP:rs1128204<li>C->Y at 947: in dbSNP rsrs56355550</ul>									<li>rs34936670</li><li>rs1128204</li><li>rs56063773</li><li>rs55791916</li><li>rs56355550</li><li>rs56214442</li><li>rs56066852</li><li>rs17074311</li><li>rs34505340</li><li>rs35826078</li><li>rs55972616</li>	2
O94806	23683	<ul><li>N->D at 42: in dbSNP:rs11896614<li>A->T at 128: in dbSNP:rs17852819<li>P->S at 225: in dbSNP:rs34280934<li>Q->R at 546: in dbSNP:rs17856887<li>V->M at 716: in a glioblastoma multiforme sample; somatic mutation</ul>									<li>rs34280934</li><li>rs11896614</li><li>rs17856887</li><li>rs17852819</li>	2
O94808	9945	<ul><li>I->V at 471: in dbSNP:rs2303007</ul>									rs2303007	2
O94810	8786	<ul><li>M->T at 427: in dbSNP:rs739999</ul>									rs739999	2
O94812	8938	<ul><li>D->A at 582: in dbSNP:rs1132356<li>S->I at 879: in dbSNP:rs36074509</ul>									<li>rs1132356</li><li>rs36074509</li>	2
O94813	9353	<ul><li>S->P at 636<li>S->F at 1277</ul>										2
O94822	26046	<ul><li>S->L at 403: in dbSNP:rs2254796</ul>									rs2254796	2
O94823	23120	<ul><li>C->R at 217: in dbSNP:rs958912</ul>									rs958912	2
O94827	57449	<ul><li>F->S at 703: in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway: in dbSNP rsrs63750315, MIM: 611067</ul>	transduction	GO:0009293			intracellular	GO:0005622		Distal spinal muscular atrophy autosomal recessive type 4 (DSMA4) [MIM:611067]	rs63750315	2
O94830	23259	<ul><li>T->M at 186: in dbSNP:rs2306899</ul>									rs2306899	2
O94832	4642	<ul><li>P->S at 765: in dbSNP:rs7209106<li>R->H at 771: in dbSNP:rs7215958</ul>									<li>rs7215958</li><li>rs7209106</li>	2
O94833	667	<ul><li>H->Y at 1116: in dbSNP:rs6909714<li>N->K at 1319: in dbSNP:rs35014998<li>L->V at 2011: in dbSNP:rs6459166</ul>									<li>rs6909714</li><li>rs6459166</li><li>rs35014998</li>	2
O94851	9645	<ul><li>F->L at 145: in dbSNP:rs2706656<li>I->V at 220: in dbSNP:rs2306727<li>D->E at 687: in dbSNP:rs3794084<li>R->Q at 1089: in dbSNP:rs2270515<li>L->P at 1106: in dbSNP:rs1027335<li>P->S at 1110: in dbSNP:rs35518829</ul>									<li>rs2706656</li><li>rs1027335</li><li>rs2270515</li><li>rs3794084</li><li>rs35518829</li><li>rs2306727</li>	2
O94854	643314	<ul><li>I->V at 824: in dbSNP:rs1746842<li>T->A at 969: in dbSNP:rs783822<li>E->K at 1058: in dbSNP:rs587523</ul>									<li>rs783822</li><li>rs587523</li><li>rs1746842</li>	2
O94855	9871	<ul><li>M->T at 42: in dbSNP:rs10029206<li>P->L at 193: in dbSNP:rs6844109<li>F->I at 496: in dbSNP:rs11723368</ul>									<li>rs6844109</li><li>rs11723368</li><li>rs10029206</li>	2
O94856	23114	<ul><li>T->M at 159: in dbSNP:rs3795564</ul>									rs3795564	2
O94874	23376	<ul><li>V->F at 137: in dbSNP:rs28372909</ul>									rs28372909	2
O94875	8470	<ul><li>A->V at 1048: in dbSNP:rs725185</ul>									rs725185	2
O94876	23023	<ul><li>G->S at 165: in dbSNP:rs784689</ul>									rs784689	2
O94880	9678	<ul><li>R->K at 115: in dbSNP:rs218966</ul>									rs218966	2
O94885	23328	<ul><li>P->Q at 298: in dbSNP:rs35078400<li>Q->R at 884: in dbSNP:rs208696</ul>									<li>rs208696</li><li>rs35078400</li>	2
O94886	9725	<ul><li>V->M at 622: in dbSNP:rs1009668</ul>									rs1009668	2
O94887	9855	<ul><li>K->N at 185: in dbSNP:rs16843643<li>T->I at 260: in dbSNP:rs757978<li>V->I at 643: in dbSNP:rs41342147</ul>									<li>rs16843643</li><li>rs757978</li><li>rs41342147</li>	2
O94892	9668	<ul><li>L->V at 416: in a breast cancer sample; somatic mutation<li>C->Y at 490: in a breast cancer sample; somatic mutation</ul>										2
O94903	11212	<ul><li>V->M at 24: in dbSNP:rs35423325</ul>									rs35423325	2
O94910	22859	<ul><li>E->Q at 595: in dbSNP:rs34759320</ul>									rs34759320	2
O94911	10351	<ul><li>T->A at 256: in dbSNP:rs16973446<li>G->S at 331: in dbSNP:rs4147979<li>A->V at 416: in dbSNP:rs35621847<li>Y->F at 489: in dbSNP:rs12150510<li>L->R at 619: in dbSNP:rs35844316<li>C->G at 680: in dbSNP:rs16973424<li>G->S at 1430: in dbSNP:rs35403175</ul>									<li>rs35403175</li><li>rs35621847</li><li>rs35844316</li><li>rs16973424</li><li>rs4147979</li><li>rs12150510</li><li>rs16973446</li>	2
O94913	51585	<ul><li>Q->H at 651: in dbSNP:rs7935175<li>H->Y at 1119: in dbSNP:rs17513642<li>E->K at 1402: in dbSNP:rs11233510</ul>									<li>rs11233510</li><li>rs17513642</li><li>rs7935175</li>	2
O94915	285527	<ul><li>I->V at 1878: in dbSNP:rs7670111</ul>									rs7670111	2
O94919	23052	<ul><li>V->M at 350: in dbSNP:rs3740862<li>G->V at 446: in dbSNP:rs3740861</ul>									<li>rs3740861</li><li>rs3740862</li>	2
O94921	5218	<ul><li>M->I at 432: in an ovarian mucinous carcinoma; somatic mutation<li>S->R at 463</ul>										2
O94925	2744	<ul><li>A->P at 254: in dbSNP:rs16833035</ul>									rs16833035	2
O94927	23354	<ul><li>P->L at 213: in dbSNP:rs2301596<li>A->D at 277: in dbSNP:rs2285412</ul>									<li>rs2285412</li><li>rs2301596</li>	2
O94929	22885	<ul><li>G->D at 125: in dbSNP:rs35907283</ul>									rs35907283	2
O94933	22865	<ul><li>I->V at 605: in dbSNP:rs3828419</ul>									rs3828419	2
O94941	22888	<ul><li>T->M at 96: in dbSNP:rs999409<li>L->P at 479: in dbSNP:rs34205880</ul>									<li>rs999409</li><li>rs34205880</li>	2
O94952	23014	<ul><li>N->T at 180: in dbSNP:rs11556202</ul>									rs11556202	2
O94953	23030	<ul><li>N->T at 29: in dbSNP:rs11667206<li>K->E at 710: in dbSNP:rs2620836</ul>									<li>rs2620836</li><li>rs11667206</li>	2
O94955	22836	<ul><li>R->Q at 20: in dbSNP:rs17855649<li>P->R at 21: in dbSNP:rs2302980<li>N->D at 262: in dbSNP:rs34899</ul>									<li>rs34899</li><li>rs2302980</li><li>rs17855649</li>	2
O94956	11309	<ul><li>E->K at 77: in a breast cancer sample; somatic mutation<li>V->M at 201: in dbSNP:rs35199625<li>R->Q at 312: in dbSNP:rs12422149<li>T->I at 392: in dbSNP:rs1621378<li>S->F at 486: in dbSNP:rs2306168</ul>									<li>rs1621378</li><li>rs12422149</li><li>rs2306168</li><li>rs35199625</li>	2
O94966	10869	<ul><li>D->H at 36: in dbSNP:rs11552724</ul>									rs11552724	2
O94972	4591	<ul><li>V->I at 838: in dbSNP:rs7222388</ul>									rs7222388	2
O94979	22872	<ul><li>I->V at 263: in dbSNP:rs34554214<li>N->K at 456: in dbSNP:rs3797036<li>P->L at 841: in dbSNP:rs35579207<li>P->T at 1055: in dbSNP:rs35739017</ul>									<li>rs34554214</li><li>rs35579207</li><li>rs3797036</li><li>rs35739017</li>	2
O94983	23125	<ul><li>A->P at 267: in dbSNP:rs238234<li>S->P at 903: in dbSNP:rs16942615</ul>									<li>rs238234</li><li>rs16942615</li>	2
O94985	22883	<ul><li>A->T at 332: in dbSNP:rs7550295<li>V->A at 474: in dbSNP:rs17853245<li>S->C at 524: in dbSNP:rs17853244<li>P->R at 583: in dbSNP:rs17853243<li>P->H at 857: in dbSNP:rs17855572<li>F->S at 870: in dbSNP:rs17855573</ul>									<li>rs17855573</li><li>rs17855572</li><li>rs17853245</li><li>rs17853244</li><li>rs17853243</li><li>rs7550295</li>	2
O94986	22995	<ul><li>S->L at 54: in dbSNP:rs2289181<li>S->I at 793: in dbSNP:rs2289178<li>L->V at 914: in dbSNP:rs16961560<li>V->A at 1106: in dbSNP:rs16961557</ul>									<li>rs16961557</li><li>rs2289181</li><li>rs2289178</li><li>rs16961560</li>	2
O94988	10144	<ul><li>V->I at 443: in dbSNP:rs7657817</ul>									rs7657817	2
O94989	22899	<ul><li>G->V at 155: in dbSNP:rs17857129<li>L->P at 277: in dbSNP:rs871841<li>S->P at 831: in dbSNP:rs3744647</ul>									<li>rs3744647</li><li>rs871841</li><li>rs17857129</li>	2
O94993	11063	<ul><li>Q->K at 429: in dbSNP:rs12188040<li>V->M at 749: in dbSNP:rs889057</ul>									<li>rs889057</li><li>rs12188040</li>	2
O95006	135948	<ul><li>A->V at 98: in dbSNP:rs2240359<li>T->A at 170: in dbSNP:rs13229174<li>Y->H at 278: in dbSNP:rs13235235</ul>									<li>rs2240359</li><li>rs13229174</li><li>rs13235235</li>	2
O95007	135946	<ul><li>R->C at 143: in dbSNP:rs7787378</ul>									rs7787378	2
O95025	223117	<ul><li>K->Q at 701: in dbSNP:rs7800072</ul>									rs7800072	2
O95045	151531	<ul><li>R->S at 10: in dbSNP:rs6710480<li>M->L at 78: in dbSNP:rs7561584</ul>									<li>rs6710480</li><li>rs7561584</li>	2
O95050	11185	<ul><li>D->N at 28: in dbSNP:rs4723010<li>M->V at 205: in dbSNP:rs2302339<li>E->G at 219: in dbSNP:rs2302340<li>N->S at 246: in dbSNP:rs6970210<li>F->C at 254: in dbSNP:rs4720015<li>R->H at 258: in dbSNP:rs6970605</ul>									<li>rs2302340</li><li>rs6970605</li><li>rs4720015</li><li>rs4723010</li><li>rs6970210</li><li>rs2302339</li>	2
O95067	9133	<ul><li>M->T at 100: in dbSNP:rs16941036<li>V->I at 135: in dbSNP:rs2306785<li>I->T at 395: in dbSNP:rs28383563</ul>									<li>rs2306785</li><li>rs16941036</li><li>rs28383563</li>	2
O95071	51366	<ul><li>S->R at 2150: in dbSNP:rs1062822</ul>									rs1062822	2
O95072	9985	<ul><li>R->C at 31: in dbSNP:rs34075659<li>P->L at 294: in dbSNP:rs35425516</ul>									<li>rs34075659</li><li>rs35425516</li>	2
O95073	100128414	<ul><li>R->K at 226: in dbSNP:rs3136422</ul>									rs3136422	2
O95076	257	<ul><li>P->A at 234: in dbSNP:rs12749726</ul>									rs12749726	2
O95081	3268	<ul><li>T->N at 365: in dbSNP:rs34731997</ul>									rs34731997	2
O95104	57466	<ul><li>S->Y at 846: in dbSNP:rs12152067</ul>									rs12152067	2
O95125	7753	<ul><li>V->A at 154: in dbSNP:rs1144507<li>G->A at 533: in dbSNP rsrs34111365</ul>									<li>rs1144507</li><li>rs34111365</li>	2
O95140	9927	<ul><li>V->F at 69: in CMT2A2; in a Turkish family: in dbSNP rsrs28940296, MIM: 609260<li>L->P at 76: in CMT2A2; in a European family: in dbSNP rsrs28940293, MIM: 609260<li>R->Q at 94: in CMT2A2; in a Japanese and Russian kindred: in dbSNP rsrs28940291, MIM: 609260<li>R->W at 94: in CMT6, MIM: 601152<li>T->I at 206: in CMT6, MIM: 601152<li>P->A at 251: in CMT2A2: in dbSNP rsrs28940295, MIM: 609260<li>Q->R at 276: in CMT6, MIM: 601152<li>R->H at 280: in CMT2A2: in dbSNP rsrs28940294, MIM: 609260<li>K->N at 357: in CMT2A2, MIM: 609260<li>H->Y at 361: in CMT6, MIM: 601152<li>R->W at 364: in CMT6, MIM: 601152<li>W->S at 740: in CMT2A2; in a European family: in dbSNP rsrs28940292, MIM: 609260</ul>								<li>Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]</li><li>Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]</li>	<li>rs28940296</li><li>rs28940295</li><li>rs28940291</li><li>rs28940292</li><li>rs28940293</li><li>rs28940294</li>	2
O95150	9966	<ul><li>F->L at 110: in dbSNP:rs16931745</ul>									rs16931745	2
O95153	9256	<ul><li>Q->R at 514: in dbSNP:rs2072145<li>A->T at 586: in dbSNP:rs2072147<li>Q->R at 817: in dbSNP:rs9913145<li>W->R at 851: in dbSNP:rs9905604<li>H->L at 1118: in dbSNP:rs3744099<li>A->P at 1140: in dbSNP:rs2680704<li>R->C at 1253: in dbSNP:rs3744101<li>H->R at 1728: in dbSNP:rs11079346<li>G->E at 1830: in dbSNP:rs2301868</ul>									<li>rs11079346</li><li>rs9913145</li><li>rs3744101</li><li>rs2680704</li><li>rs2072145</li><li>rs3744099</li><li>rs2072147</li><li>rs2301868</li><li>rs9905604</li>	2
O95154	22977	<ul><li>V->M at 138: in dbSNP rsrs2231198<li>N->D at 215: in dbSNP:rs1738023<li>T->A at 323: in dbSNP:rs1738025</ul>									<li>rs1738023</li><li>rs1738025</li><li>rs2231198</li>	2
O95155	10277	<ul><li>V->I at 605: in dbSNP:rs17034499</ul>									rs17034499	2
O95159	7542	<ul><li>R->Q at 218: in dbSNP:rs35251366</ul>									rs35251366	2
O95163	8518	<ul><li>R->C at 70: in dbSNP:rs3737311<li>M->K at 182: in dbSNP:rs10521092<li>E->K at 312: in dbSNP:rs1140064<li>R->Q at 525: in dbSNP:rs838827<li>R->P at 696: in FD; mild phenotype; phosphorylation is reduced, MIM: 223900<li>G->E at 765: in dbSNP:rs2230792, MIM: 223900<li>I->L at 816: in dbSNP:rs2230793, MIM: 223900<li>I->M at 830: in dbSNP:rs2230794, MIM: 223900<li>T->N at 848: in dbSNP:rs10979599, MIM: 223900<li>K->I at 952: in dbSNP:rs2230798, MIM: 223900<li>G->S at 1013: in dbSNP:rs2230795, MIM: 223900<li>C->S at 1072: in dbSNP:rs3204145, MIM: 223900<li>P->L at 1158: in dbSNP:rs1538660, MIM: 223900</ul>	phosphorylation	GO:0016310						Familial dysautonomia (FD) [MIM:223900]	<li>rs838827</li><li>rs2230798</li><li>rs10979599</li><li>rs1538660</li><li>rs2230793</li><li>rs10521092</li><li>rs2230792</li><li>rs3737311</li><li>rs3204145</li><li>rs2230795</li><li>rs1140064</li><li>rs2230794</li>	2
O95167	4696	<ul><li>N->D at 62: in a breast cancer sample; somatic mutation</ul>										2
O95170		<ul><li>F->L at 143: in dbSNP:rs8078150</ul>									rs8078150	2
O95171	8796	<ul><li>V->L at 336: in dbSNP:rs34164479<li>R->K at 386: in dbSNP:rs2274016<li>K->R at 480: in dbSNP:rs8002725</ul>									<li>rs8002725</li><li>rs34164479</li><li>rs2274016</li>	2
O95177	750	<ul><li>Missing  at 47-54: in short isoform</ul>										2
O95180	8912	<ul><li>F->L at 161: in IGE6, MIM: 611942<li>E->K at 282: in IGE6, MIM: 611942<li>M->V at 313: in dbSNP:rs36117280, MIM: 611942<li>C->S at 456: in IGE6, MIM: 611942<li>G->S at 499: in IGE6, MIM: 611942<li>P->L at 640, MIM: 611942<li>P->L at 648: in IGE6, MIM: 611942<li>V->A at 664: in dbSNP:rs4984636, MIM: 611942<li>P->S at 684, MIM: 611942<li>R->Q at 744: in IGE6, MIM: 611942<li>A->V at 748: in IGE6, MIM: 611942<li>G->D at 773: in IGE6, MIM: 611942<li>G->S at 784: in IGE6, MIM: 611942<li>R->C at 788: in dbSNP:rs3751664, MIM: 611942<li>V->M at 812: in dbSNP:rs28365119, MIM: 611942<li>V->M at 831: in IGE6, MIM: 611942<li>G->S at 848: in IGE6, MIM: 611942<li>D->N at 1463: in IGE6, MIM: 611942<li>E->G at 1974: in dbSNP:rs3751886, MIM: 611942<li>R->H at 2032: in dbSNP:rs1054644, MIM: 611942<li>R->H at 2060: in dbSNP:rs1054644, MIM: 611942<li>R->H at 2077: in dbSNP:rs1054645, MIM: 611942<li>P->S at 2173, MIM: 611942</ul>								Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	<li>rs1054644</li><li>rs4984636</li><li>rs28365119</li><li>rs36117280</li><li>rs3751664</li><li>rs3751886</li><li>rs1054645</li>	2
O95182	4701	<ul><li>P->A at 66: in dbSNP:rs2288415</ul>									rs2288415	2
O95185	8633	<ul><li>G->V at 37: in dbSNP:rs2306715<li>M->T at 721: in dbSNP:rs2289043<li>A->T at 841: in dbSNP:rs34585936</ul>									<li>rs2289043</li><li>rs34585936</li><li>rs2306715</li>	2
O95190	4947	<ul><li>P->L at 70: in dbSNP:rs3751534</ul>									rs3751534	2
O95197	10313	<ul><li>A->E at 6: in dbSNP:rs11551944</ul>									rs11551944	2
O95199	1102	<ul><li>A->T at 263: in dbSNP:rs9332000<li>C->S at 515: in dbSNP:rs9332075</ul>									<li>rs9332075</li><li>rs9332000</li>	2
O95201	7755	<ul><li>T->A at 43: in dbSNP:rs909410<li>A->D at 255: in dbSNP:rs12445220</ul>									<li>rs12445220</li><li>rs909410</li>	2
O95206	5100	<ul><li>W->R at 7: in dbSNP:rs3742301<li>E->A at 39: in dbSNP:rs5030683<li>V->A at 743: in dbSNP:rs5030685<li>K->N at 956: in a breast cancer sample; somatic mutation</ul>									<li>rs3742301</li><li>rs5030685</li><li>rs5030683</li>	2
O95208	22905	<ul><li>V->A at 401: in dbSNP:rs6587220<li>P->T at 531: in dbSNP:rs1062727<li>P->T at 532: in dbSNP:rs1062727</ul>									<li>rs1062727</li><li>rs6587220</li>	2
O95218	9406	<ul><li>R->G at 207: in dbSNP:rs11583800</ul>									rs11583800	2
O95221	338674	<ul><li>Y->H at 278: in dbSNP:rs11825964<li>S->N at 294: in dbSNP:rs2449134</ul>									<li>rs2449134</li><li>rs11825964</li>	2
O95222	8590	<ul><li>A->V at 22: in dbSNP:rs7122644</ul>									rs7122644	2
O95229	11130	<ul><li>A->S at 4: in dbSNP:rs11005328<li>R->G at 187: in dbSNP:rs2241666</ul>									<li>rs11005328</li><li>rs2241666</li>	2
O95231	27287	<ul><li>L->P at 42: in dbSNP:rs2240892<li>M->V at 79: in dbSNP:rs2240891<li>E->K at 101: in dbSNP:rs2270192<li>G->R at 191: in dbSNP:rs9418952</ul>									<li>rs9418952</li><li>rs2240891</li><li>rs2270192</li><li>rs2240892</li>	2
O95235	10112	<ul><li>E->K at 63: in dbSNP:rs3734116<li>P->L at 839: in dbSNP:rs3172747</ul>									<li>rs3172747</li><li>rs3734116</li>	2
O95236	80833	<ul><li>S->R at 39: in dbSNP:rs132653<li>A->V at 135: in dbSNP:rs6000152</ul>									<li>rs6000152</li><li>rs132653</li>	2
O95237	9227	<ul><li>S->R at 175: in RD; loss of function, MIM: 604863</ul>								Severe early-onset retinal dystrophy (RD) [MIM:604863]		2
O95238	25803	<ul><li>A->T at 57: in dbSNP:rs2233639</ul>									rs2233639	2
O95239	24137	<ul><li>L->W at 422: in dbSNP:rs1199457<li>A->V at 491: in dbSNP:rs2297871<li>L->S at 1193: in dbSNP:rs1046485</ul>									<li>rs1199457</li><li>rs1046485</li><li>rs2297871</li>	2
O95243	8930	<ul><li>C->R at 61: in dbSNP:rs2307296<li>A->S at 273: in dbSNP:rs10342<li>A->T at 273: in dbSNP:rs10342<li>S->P at 342: in dbSNP:rs2307289<li>E->K at 346: in dbSNP:rs140693<li>I->T at 358: in dbSNP:rs2307298<li>D->H at 568: in dbSNP:rs2307293</ul>									<li>rs140693</li><li>rs2307298</li><li>rs2307289</li><li>rs2307296</li><li>rs10342</li><li>rs2307293</li>	2
O95255		<ul><li>Missing  at 60-62: in PXE; autosomal recessive<li>G->D at 61<li>W->R at 64<li>G->R at 207<li>R->G at 265<li>K->E at 281: in dbSNP:rs4780606<li>I->V at 319<li>T->R at 364: in PXE; autosomal recessive, MIM: 264800<li>N->K at 411: in PXE; autosomal dominant, MIM: 264800<li>A->P at 455: in PXE; autosomal dominant, MIM: 264800<li>N->K at 497, MIM: 264800<li>R->Q at 518: in PXE, MIM: 264800<li>F->S at 568: in PXE; autosomal dominant, MIM: 264800<li>V->A at 614: in dbSNP:rs12931472, MIM: 264800<li>H->Q at 632: in dbSNP:rs8058694, MIM: 264800<li>L->P at 673: in PXE; autosomal dominant, MIM: 264800<li>R->Q at 765: in PXE; autosomal dominant, MIM: 264800<li>L->H at 953, MIM: 264800<li>R->P at 1114: in PXE; autosomal recessive, MIM: 264800<li>S->W at 1121: in PXE; autosomal dominant, MIM: 264800<li>R->P at 1138: in PXE; autosomal dominant, MIM: 264800<li>R->Q at 1138: in PXE; autosomal recessive, MIM: 264800<li>R->W at 1138: in PXE; autosomal recessive, MIM: 264800<li>G->D at 1203: in PXE; autosomal dominant, MIM: 264800<li>W->C at 1241, MIM: 264800<li>R->Q at 1268: associated with lower plasma triglycerides and higher plasma HDL cholesterol; dbSNP:rs2238472, MIM: 264800<li>V->F at 1298: in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport, MIM: 264800<li>T->I at 1301: in PXE; autosomal dominant, MIM: 264800<li>G->R at 1302: in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport, MIM: 264800<li>A->P at 1303: in PXE; autosomal dominant, MIM: 264800<li>R->Q at 1314: in PXE; autosomal dominant, MIM: 264800<li>R->W at 1314: in PXE; autosomal recessive, MIM: 264800<li>G->S at 1321: in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport, MIM: 264800<li>R->C at 1339: in PXE; autosomal recessive, MIM: 264800<li>Q->H at 1347: in PXE; autosomal dominant, MIM: 264800<li>G->R at 1354: in PXE; autosomal recessive, MIM: 264800<li>D->N at 1361: in PXE; autosomal dominant, MIM: 264800<li>I->T at 1424: in PXE; autosomal dominant, MIM: 264800</ul>	transport	GO:0006810						Pseudoxanthoma elasticum (PXE) [MIM:264800]	<li>rs12931472</li><li>rs4780606</li><li>rs8058694</li>	2
O95256	8807	<ul><li>V->I at 350: in dbSNP:rs11465716</ul>									rs11465716	2
O95257	10912	<ul><li>G->S at 112: in dbSNP:rs3138505</ul>									rs3138505	2
O95258	9016	<ul><li>E->A at 55: in dbSNP:rs2143598</ul>									rs2143598	2
O95264	9177	<ul><li>Y->S at 129: in dbSNP:rs1176744<li>I->T at 143: in dbSNP:rs34550504<li>S->R at 156<li>V->I at 183: in dbSNP:rs17116138</ul>									<li>rs34550504</li><li>rs17116138</li><li>rs1176744</li>	2
O95278	7957	<ul><li>S->P at 25: in EPM2; atypical form; does not affect glycogen binding, MIM: 254780<li>E->K at 28: in EPM2; does not affect glycogen binding, MIM: 254780<li>W->G at 32: in EPM2; affects phosphatase activity; abolishes glycogen binding; reduced binding to Lafora bodies; disrupts the interaction with PPP1R5; significant protein amount targeted to the nucleus, MIM: 254780<li>A->P at 46: does not affect glycogen binding, MIM: 254780<li>F->L at 84: in EPM2; affects phosphatase activity and glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780<li>F->L at 88: in EPM2; does not affect glycogen binding, MIM: 254780<li>R->P at 91: in EPM2; atypical form; learning difficuties with childhood-onset, MIM: 254780<li>R->C at 108: in EPM2; loss of phosphatase activity; reduced self-interaction capacity; disrupts the interaction with PPP1R5, MIM: 254780<li>E->D at 114, MIM: 254780<li>K->N at 140: in EPM2, MIM: 254780<li>N->Y at 148: in EPM2, MIM: 254780<li>R->H at 171: in EPM2; results in ubiquitin-positive perinuclear aggregates; may affect proper folding, MIM: 254780<li>T->A at 187: in EPM2, MIM: 254780<li>T->I at 194: in EPM2; results in ubiquitin-positive perinuclear aggregates; loss of phosphatase activity; affects glycogen binding; reduced self-interaction capacity; disrupts the interaction with PPP1R5, MIM: 254780<li>E->K at 210: in EPM2, MIM: 254780<li>G->S at 240: in EPM2; very slight loss of phosphatase activity; does not affect glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780<li>G->S at 279: in EPM2; results in ubiquitin-positive perinuclear aggregates; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780<li>Q->L at 293: in EPM2; results in ubiquitin-positive perinuclear aggregates; may affect proper folding; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780<li>Y->N at 294: in EPM2; results in ubiquitin-positive perinuclear aggregates; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780<li>P->L at 301: in EPM2; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780<li>L->W at 310: in EPM2; effect limited to the cytoplasmic isoform , MIM: 254780</ul>	learning	GO:0007612	binding	GO:0005488	nucleus	GO:0005634	<li>P08565</li><li>Q88A53</li><li>Q7MBF4</li><li>Q5PC82</li><li>P68196</li><li>O46543</li><li>Q821A6</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>Q87SK9</li><li>P68195</li><li>Q9I5V3</li><li>Q5F8K9</li><li>P61863</li><li>P61864</li><li>P61862</li><li>P23398</li><li>Q5WT58</li><li>P84589</li><li>Q8MKD1</li><li>Q8P5D4</li><li>P14792</li><li>P63049</li><li>P45269</li><li>Q8ZI64</li><li>Q60CQ4</li><li>P63051</li><li>Q7MAZ9</li><li>Q5P3T0</li><li>Q5ZRX9</li><li>Q9CP21</li><li>P15174</li><li>Q82U82</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q62EU1</li><li>Q665U9</li><li>P0C014</li><li>P59263</li><li>Q8PPG9</li><li>P22589</li><li>Q9L7A3</li><li>P62988</li><li>P62989</li><li>Q87DS9</li><li>P59669</li><li>P69326</li><li>Q5X1E5</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P19848</li><li>Q9JZ88</li><li>P42739</li><li>Q867C2</li><li>Q63YC3</li><li>Q8Y395</li><li>P62991</li><li>Q6LV05</li><li>P62990</li><li>Q867C4</li><li>Q9PDL7</li><li>Q867C3</li><li>P68204</li><li>Q57JQ5</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>P06961</li><li>Q88QU2</li><li>P0C072</li><li>Q5E2K7</li><li>Q8CXX6</li><li>Q7M7K5</li><li>Q8XBL4</li><li>Q8Z3M9</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P46574</li><li>P69310</li><li>Q9JUB2</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P08618</li><li>P69312</li><li>P69317</li><li>P69318</li><li>P69315</li><li>Q9KPC6</li><li>P69316</li><li>Q8CWL6</li><li>P69319</li><li>P49634</li><li>P49635</li><li>Q9Y848</li><li>Q6D160</li><li>Q65Q41</li><li>P69321</li><li>P23324</li><li>P69320</li>	Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]		2
O95279	8645	<ul><li>P->T at 465: in dbSNP:rs9462487</ul>									rs9462487	2
O95292	9217	<ul><li>P->S at 56: in ALS8 and SMAF, MIM: 182980</ul>								<li>Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627]</li><li>Spinal muscular atrophy autosomal dominant Finkel type (SMAF) [MIM:182980]</li>		2
O95294	8437	<ul><li>V->L at 11: in dbSNP:rs7960087<li>T->M at 58: in dbSNP:rs34598602<li>H->R at 321: in dbSNP:rs1284879</ul>									<li>rs7960087</li><li>rs1284879</li><li>rs34598602</li>	2
O95295	23557	<ul><li>S->C at 112: in dbSNP:rs1802461</ul>									rs1802461	2
O95298	4718	<ul><li>L->V at 46: in dbSNP:rs8875</ul>									rs8875	2
O95299	4705	<ul><li>A->G at 2: in dbSNP:rs11541494</ul>									rs11541494	2
O95319	10659	<ul><li>D->H at 438: in dbSNP:rs1050942</ul>									rs1050942	2
O95340	9060	<ul><li>E->K at 10: significant decrease of activity; dbSNP:rs17173698<li>M->L at 281: in dbSNP:rs45624631<li>V->M at 291: significant decrease of activity; dbSNP:rs45467596<li>R->K at 432: in dbSNP rsrs17129133</ul>									<li>rs45467596</li><li>rs17173698</li><li>rs17129133</li><li>rs45624631</li>	2
O95342	8647	<ul><li>E->G at 186: in BRIC2, MIM: 605479<li>I->V at 206: in dbSNP:rs11568357, MIM: 605479<li>G->V at 238: in PFIC2, MIM: 601847<li>V->A at 284, MIM: 601847<li>V->L at 284: in PFIC2, MIM: 601847<li>E->G at 297: in PFIC2 and BRIC2; reduced transport capacity for taurocholate: in dbSNP rsrs11568372, MIM: 601847<li>R->K at 299: in dbSNP:rs2287617, MIM: 601847<li>C->S at 336: in PFIC2, MIM: 601847<li>R->Q at 415, MIM: 601847<li>R->T at 432: in BRIC2; reduced transport capacity for taurocholate, MIM: 605479<li>V->A at 444: more frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate; dbSNP:rs2287622, MIM: 605479<li>K->E at 461: in PFIC2, MIM: 601847<li>D->G at 482: in PFIC2, MIM: 601847<li>A->T at 570: in BRIC2, MIM: 605479<li>N->S at 591: in a patient with intrahepatic cholestasis of pregnancy: in dbSNP rsrs11568367, MIM: 605479<li>R->G at 616, MIM: 605479<li>T->A at 619, MIM: 605479<li>D->Y at 676: in fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate, MIM: 605479<li>M->V at 677: does not affect transport capacity for taurocholate: in dbSNP rsrs11568364, MIM: 605479<li>R->H at 698, MIM: 605479<li>G->R at 855: in ethinylestradiol/gestodene-induced cholestasis; loss of transport capacity for taurocholate, MIM: 605479<li>A->V at 865, MIM: 605479<li>T->P at 923: in BRIC2, MIM: 605479<li>A->P at 926: in BRIC2, MIM: 605479<li>R->Q at 958, MIM: 605479<li>G->R at 982: in PFIC2, MIM: 601847<li>G->D at 1004: in PFIC2, MIM: 601847<li>R->C at 1050: in BRIC2, MIM: 605479<li>R->H at 1128: in BRIC2, MIM: 605479<li>R->C at 1153: in PFIC2, MIM: 601847<li>E->K at 1186: in dbSNP:rs1521808, MIM: 601847<li>R->Q at 1268: in PFIC2, MIM: 601847</ul>	<li>pregnancy</li><li>transport</li>	<li>GO:0007565</li><li>GO:0006810</li>						<li>Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]</li><li>Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]</li>	<li>rs2287617</li><li>rs11568372</li><li>rs1521808</li><li>rs2287622</li><li>rs11568364</li><li>rs11568357</li><li>rs11568367</li>	2
O95343	6496	<ul><li>G->D at 69: in HPE2, MIM: 157170<li>V->G at 92: in HPE2, MIM: 157170<li>I->V at 105: in HPE2, MIM: 157170<li>H->P at 173: in HPE2, MIM: 157170<li>T->I at 202: in HPE2, MIM: 157170<li>L->V at 226: in HPE2, MIM: 157170<li>P->R at 231: in HPE2, MIM: 157170<li>V->A at 250: in HPE2, MIM: 157170<li>R->P at 257: in HPE2, MIM: 157170<li>R->W at 257: in HPE2, MIM: 157170</ul>								Holoprosencephaly type 2 (HPE2) [MIM:157170]		2
O95347	10592	<ul><li>E->K at 1009: in dbSNP:rs4562395</ul>									rs4562395	2
O95352	10533	<ul><li>V->A at 471: in dbSNP:rs36117895</ul>									rs36117895	2
O95359	10579	<ul><li>V->I at 170: in dbSNP:rs11200385<li>L->V at 798: in a breast cancer sample; somatic mutation<li>L->F at 830: in dbSNP:rs10887063<li>W->R at 1103: in dbSNP:rs7073433<li>A->S at 1347: in a breast cancer sample; somatic mutation<li>A->T at 1425: in dbSNP:rs4752642<li>P->L at 1492: in dbSNP:rs7920896<li>E->K at 1916: in dbSNP:rs12765679<li>I->T at 2078: in dbSNP:rs7083331<li>N->S at 2102: in dbSNP:rs3750843<li>V->A at 2197: in dbSNP:rs2295873<li>A->V at 2210: in dbSNP:rs2295874<li>P->L at 2216: in dbSNP:rs2295875<li>L->H at 2261: in dbSNP:rs2295876<li>E->D at 2271: in dbSNP:rs11200483<li>V->I at 2718: in dbSNP:rs2295878<li>A->T at 2732: in dbSNP:rs2295879<li>Q->K at 2900: in dbSNP:rs1063627</ul>									<li>rs2295876</li><li>rs12765679</li><li>rs2295875</li><li>rs11200483</li><li>rs2295874</li><li>rs2295879</li><li>rs2295878</li><li>rs10887063</li><li>rs7083331</li><li>rs2295873</li><li>rs1063627</li><li>rs11200385</li><li>rs7073433</li><li>rs7920896</li><li>rs4752642</li><li>rs3750843</li>	2
O95361	10626	<ul><li>E->D at 121: in dbSNP:rs2074890<li>R->W at 493: in dbSNP:rs3174720<li>G->V at 561: in dbSNP:rs1060903</ul>									<li>rs3174720</li><li>rs1060903</li><li>rs2074890</li>	2
O95363	10667	<ul><li>S->C at 57: in dbSNP:rs34382405<li>N->S at 280: in dbSNP:rs11243011</ul>									<li>rs11243011</li><li>rs34382405</li>	2
O95371		<ul><li>G->S at 16: in dbSNP:rs1218762<li>W->C at 149: in dbSNP:rs1218763<li>R->H at 229: in dbSNP:rs11648783</ul>									<li>rs1218762</li><li>rs11648783</li><li>rs1218763</li>	2
O95373	10527	<ul><li>T->N at 111: in dbSNP:rs11042340</ul>									rs11042340	2
O95376	10425	<ul><li>E->K at 24: in dbSNP:rs11507<li>E->D at 29: in dbSNP:rs34221642</ul>									<li>rs34221642</li><li>rs11507</li>	2
O95379	25816	<ul><li>S->C at 151: in dbSNP:rs3203922</ul>									rs3203922	2
O95382	9064	<ul><li>I->T at 455: in dbSNP:rs1138294<li>R->C at 499: in dbSNP:rs11247641<li>R->W at 544: in dbSNP:rs55671988<li>N->K at 622: in dbSNP:rs35659744<li>R->G at 668: in dbSNP:rs55869163<li>R->L at 673: in dbSNP:rs56359841<li>P->T at 869: in a breast cancer sample; somatic mutation<li>S->L at 925: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>T->I at 968: in an ovarian endometrioid cancer sample; somatic mutation<li>S->N at 969: in dbSNP:rs17856498<li>A->T at 1061: in dbSNP:rs55990440<li>G->A at 1233: in dbSNP:rs17162549</ul>									<li>rs55671988</li><li>rs1138294</li><li>rs11247641</li><li>rs17162549</li><li>rs55869163</li><li>rs17856498</li><li>rs35659744</li><li>rs55990440</li><li>rs56359841</li>	2
O95389	8838	<ul><li>Q->H at 56: common polymorphism; dbSNP:rs1230345<li>R->C at 60: in dbSNP:rs17073260<li>C->R at 78: in PPAC: in dbSNP rsrs17073260, MIM: 208230</ul>								Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]	<li>rs17073260</li><li>rs1230345</li>	2
O95391	10569	<ul><li>I->V at 111: in dbSNP:rs17856338<li>T->M at 229: in dbSNP:rs2961944</ul>									<li>rs2961944</li><li>rs17856338</li>	2
O95393	27302	<ul><li>T->S at 200: in dbSNP:rs2231342<li>N->K at 250: in dbSNP:rs2231345</ul>									<li>rs2231345</li><li>rs2231342</li>	2
O95394	5238	<ul><li>D->N at 466: in allele PGM3*2; dbSNP:rs473267</ul>							O95394		rs473267	2
O95396	27304	<ul><li>S->A at 429: in dbSNP:rs7269297</ul>									rs7269297	2
O95398	10411	<ul><li>A->P at 16: in dbSNP:rs11168230<li>G->R at 193: in dbSNP:rs2016123<li>G->S at 374: in dbSNP:rs12422983</ul>									<li>rs2016123</li><li>rs12422983</li><li>rs11168230</li>	2
O95399	10911	<ul><li>I->T at 12: in dbSNP:rs34305100<li>S->N at 74: in dbSNP:rs2890565</ul>									<li>rs2890565</li><li>rs34305100</li>	2
O95400	10421	<ul><li>G->D at 231: in dbSNP:rs13330462<li>T->I at 262: in dbSNP:rs34391305</ul>									<li>rs34391305</li><li>rs13330462</li>	2
O95405	9372	<ul><li>Y->C at 287: in dbSNP:rs9803965<li>Q->P at 414: in dbSNP:rs3790525<li>I->V at 639: in dbSNP:rs11809887</ul>									<li>rs11809887</li><li>rs9803965</li><li>rs3790525</li>	2
O95409	7546	<ul><li>Q->P at 36: in HPE5; 2-fold increase in luciferase activity, MIM: 609637<li>D->F at 152: in HPE5; requires 2 nucleotide substitutions; 50% reduction of luciferase activity, MIM: 609637<li>H->HH at 239, MIM: 609637<li>Missing at 239, MIM: 609637<li>A->AAAAAAAAAAA at 470: in HPE5; near-complete loss of luciferase activity, MIM: 609637</ul>							<li>P08659</li><li>Q01158</li><li>P13129</li><li>Q26304</li><li>Q27757</li>	Holoprosencephaly type 5 (HPE5) [MIM:609637]		2
O95415	25798	<ul><li>T->A at 123: in dbSNP:rs12865</ul>									rs12865	2
O95425	6840	<ul><li>A->V at 189: in dbSNP:rs10160013<li>A->P at 1235: in dbSNP:rs2368406<li>S->P at 1688: in dbSNP:rs11007612</ul>									<li>rs10160013</li><li>rs11007612</li><li>rs2368406</li>	2
O95427	23556	<ul><li>K->E at 162: in dbSNP:rs17069506<li>H->D at 229: in dbSNP:rs9320001<li>L->F at 469: in dbSNP:rs3862712<li>I->L at 470: in dbSNP:rs3862712<li>F->C at 904: in dbSNP:rs34231046<li>F->L at 904: in dbSNP:rs34231046</ul>									<li>rs17069506</li><li>rs34231046</li><li>rs3862712</li><li>rs9320001</li>	2
O95428	89932	<ul><li>S->G at 33: in dbSNP:rs2280792<li>A->T at 191: in dbSNP:rs741842<li>N->H at 356: in dbSNP:rs17126331<li>V->I at 443: in dbSNP:rs17126352<li>A->V at 461: in dbSNP:rs17126354<li>H->R at 628: in dbSNP:rs17182244<li>Q->H at 723: in dbSNP:rs2242616<li>G->R at 896: in dbSNP:rs177386<li>L->V at 1192: in dbSNP:rs2107731<li>T->M at 1201: in dbSNP:rs4903104<li>S->T at 1260: in dbSNP:rs11626824</ul>									<li>rs17126331</li><li>rs2242616</li><li>rs17182244</li><li>rs2107731</li><li>rs17126354</li><li>rs2280792</li><li>rs17126352</li><li>rs11626824</li><li>rs4903104</li><li>rs741842</li><li>rs177386</li>	2
O95436	10568	<ul><li>V->A at 45: in dbSNP:rs35426730<li>G->R at 106: in pulmonary alveolar microlithiasis, MIM: 265100<li>G->D at 634: in dbSNP:rs6448389, MIM: 265100</ul>								Pulmonary alveolar microlithiasis [MIM:265100]	<li>rs6448389</li><li>rs35426730</li>	2
O95447	150082	<ul><li>G->S at 17: in dbSNP:rs2837029<li>G->S at 547: in dbSNP:rs11558767</ul>									<li>rs11558767</li><li>rs2837029</li>	2
O95450	9509	<ul><li>V->M at 74: in dbSNP:rs2271211<li>R->H at 241: in dbSNP:rs11750821<li>V->I at 245: in dbSNP:rs398829<li>E->K at 331: in dbSNP:rs17667857<li>G->R at 665: in dbSNP:rs35372714<li>R->Q at 827: in dbSNP:rs35445112<li>P->S at 1177: in dbSNP:rs1054480</ul>									<li>rs17667857</li><li>rs35445112</li><li>rs1054480</li><li>rs2271211</li><li>rs11750821</li><li>rs35372714</li><li>rs398829</li>	2
O95452	10804	<ul><li>T->M at 5: in DFNA3, MIM: 601544<li>G->R at 11: in ED2, MIM: 129500<li>V->E at 37: in ED2, MIM: 129500<li>A->V at 88: in ED2: in dbSNP rsrs28937872, MIM: 129500<li>S->G at 139, MIM: 129500<li>N->S at 159: in dbSNP:rs35277762, MIM: 129500<li>S->T at 199, MIM: 129500</ul>								<li>Ectodermal dysplasia type 2 (ED2) [MIM:129500]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 3 (DFNA3) [MIM:601544]</li>	<li>rs28937872</li><li>rs35277762</li>	2
O95455	23483	<ul><li>G->S at 15: in dbSNP:rs34991132</ul>									rs34991132	2
O95456	8624	<ul><li>I->V at 166: in dbSNP:rs8131611</ul>									rs8131611	2
O95461	9215	<ul><li>R->G at 68: in dbSNP:rs470035<li>R->P at 68: in dbSNP:rs135311<li>E->K at 509: in MDC1D, MIM: 608840<li>R->H at 665: in dbSNP:rs1046166, MIM: 608840</ul>								Congenital muscular dystrophy type 1D (MDC1D) [MIM:608840]	<li>rs135311</li><li>rs470035</li><li>rs1046166</li>	2
O95470	8879	<ul><li>V->L at 21: in dbSNP:rs12770335</ul>									rs12770335	2
O95471	1366	<ul><li>A->T at 133: in dbSNP:rs17849410<li>A->V at 197: in dbSNP:rs4562</ul>									<li>rs4562</li><li>rs17849410</li>	2
O95473	23546	<ul><li>R->W at 27: in dbSNP:rs919804</ul>									rs919804	2
O95475	4990	<ul><li>H->N at 141: in dbSNP:rs33912345<li>T->A at 165: in MCOPCT2, MIM: 212550</ul>								Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550]	rs33912345	2
O95476	23399	<ul><li>A->T at 12: in dbSNP:rs3744399</ul>									rs3744399	2
O95477	19	<ul><li>P->L at 85: in HDLD2; Alabama, MIM: 604091<li>E->D at 210: in a colorectal cancer sample; somatic mutation, MIM: 604091<li>R->K at 219: common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806, MIM: 604091<li>R->C at 230: in HDLD2; dbSNP:rs9282541, MIM: 604091<li>A->T at 255: in HDLD1; deficient cellular cholesterol efflux, MIM: 205400<li>V->A at 399: in dbSNP:rs9282543, MIM: 205400<li>R->W at 587: in HDLD1; dbSNP:rs2853574, MIM: 205400<li>W->S at 590: in HDLD1, MIM: 205400<li>Q->R at 597: in HDLD1; dbSNP:rs2853578, MIM: 205400<li>Missing  at 693: in HDLD2, MIM: 205400<li>V->M at 771: in dbSNP:rs2066718, MIM: 205400<li>T->P at 774: in dbSNP:rs35819696, MIM: 205400<li>K->N at 776, MIM: 205400<li>V->I at 825: common polymorphism; dbSNP:rs2066715, MIM: 205400<li>I->M at 883: common polymorphism; dbSNP:rs2066714, MIM: 205400<li>D->Y at 917: in a colorectal cancer sample; somatic mutation, MIM: 205400<li>T->I at 929: in HDLD1, MIM: 205400<li>N->H at 935: in HDLD1; dbSNP:rs28937314, MIM: 205400<li>N->S at 935: in HDLD1; dbSNP:rs28937313, MIM: 205400<li>A->V at 937: in HDLD1, MIM: 205400<li>A->D at 1046: in HDLD1, MIM: 205400<li>V->I at 1054: in dbSNP:rs13306072, MIM: 205400<li>M->T at 1091: in HDLD2, MIM: 604091<li>D->Y at 1099: in HDLD2; dbSNP:rs28933692, MIM: 604091<li>E->D at 1172: in dbSNP:rs33918808, MIM: 604091<li>S->F at 1181, MIM: 604091<li>D->N at 1289: in HDLD1, MIM: 205400<li>A->T at 1407: in a colorectal cancer sample; somatic mutation, MIM: 205400<li>C->R at 1477: in HDLD1, MIM: 205400<li>S->L at 1506: in HDLD1, MIM: 205400<li>I->R at 1517: in HDLD1, MIM: 205400<li>T->I at 1555: in dbSNP:rs1997618, MIM: 205400<li>R->K at 1587: common polymorphism; dbSNP:rs2230808, MIM: 205400<li>N->D at 1611: associated with atherosclerosis; deficient cellular cholesterol efflux, MIM: 205400<li>P->L at 1648: in dbSNP:rs1883024, MIM: 205400<li>R->W at 1680: in HDLD1; clinical variant, MIM: 205400<li>S->C at 1731, MIM: 205400<li>N->H at 1800: in HDLD1, MIM: 205400<li>Missing  at 1893-1894: in HDLD2, MIM: 205400<li>F->S at 2009: in HDLD2, MIM: 604091<li>R->W at 2081: in HDLD1, MIM: 205400<li>A->T at 2109: in a colorectal cancer sample; somatic mutation, MIM: 205400<li>P->L at 2150: in HDLD2, MIM: 604091<li>P->L at 2168: in dbSNP:rs2853577, MIM: 604091</ul>								<li>High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]</li><li>High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]</li>	<li>rs33918808</li><li>rs2066718</li><li>rs2066715</li><li>rs9282541</li><li>rs2066714</li><li>rs2853574</li><li>rs28937313</li><li>rs35819696</li><li>rs28933692</li><li>rs1883024</li><li>rs2230806</li><li>rs2230808</li><li>rs28937314</li><li>rs2853577</li><li>rs1997618</li><li>rs2853578</li><li>rs13306072</li><li>rs9282543</li>	2
O95478	10412	<ul><li>R->C at 11: in dbSNP:rs3733793</ul>									rs3733793	2
O95479	9563	<ul><li>D->A at 151: in dbSNP:rs34603401<li>R->Q at 218: in dbSNP:rs35525021<li>R->Q at 453: in CDR; less than 50% of activity than wild-type; dbSNP:rs6688832<li>N->D at 484: in dbSNP:rs35404275<li>P->L at 554: in dbSNP:rs17368528</ul>							<li>P17516</li><li>Q06455</li><li>Q95JH4</li><li>Q95JH5</li>		<li>rs6688832</li><li>rs34603401</li><li>rs17368528</li><li>rs35404275</li><li>rs35525021</li>	2
O95486	10802	<ul><li>S->G at 261: in dbSNP:rs7718102<li>T->I at 302: in dbSNP:rs17851746<li>T->M at 396: in dbSNP:rs17851745</ul>									<li>rs17851746</li><li>rs17851745</li><li>rs7718102</li>	2
O95487	10427	<ul><li>A->G at 456: in dbSNP:rs35705351</ul>									rs35705351	2
O95497	8876	<ul><li>T->I at 26: in dbSNP:rs2294757<li>A->T at 63<li>N->S at 131: in dbSNP:rs2272996<li>V->L at 136: in dbSNP rsrs45610032<li>D->N at 146: in dbSNP rsrs45624336<li>E->D at 296: in dbSNP rsrs45523444<li>A->E at 325: in dbSNP rsrs34535050<li>T->A at 336: in dbSNP rsrs45562238<li>I->T at 373: in dbSNP rsrs35938565</ul>									<li>rs45523444</li><li>rs45624336</li><li>rs45610032</li><li>rs2272996</li><li>rs35938565</li><li>rs2294757</li><li>rs34535050</li><li>rs45562238</li>	2
O95498	8875	<ul><li>T->N at 17: in dbSNP rsrs33950336<li>V->A at 30: in dbSNP:rs2294760<li>D->E at 112: in dbSNP rsrs35993077<li>V->I at 241: in dbSNP:rs33920182<li>T->S at 349: in dbSNP rsrs36092168<li>L->M at 404: in dbSNP:rs4895944</ul>									<li>rs35993077</li><li>rs2294760</li><li>rs4895944</li><li>rs33920182</li><li>rs33950336</li><li>rs36092168</li>	2
O95500	23562	<ul><li>T->M at 4<li>V->D at 85: in DFNB29, MIM: 605608</ul>								Non-syndromic sensorineural deafness autosomal recessive type 29 (DFNB29) [MIM:605608]		2
O95521	65121	<ul><li>L->M at 204: in dbSNP:rs1063767<li>Q->E at 252: in dbSNP:rs1063776<li>Y->C at 302: in dbSNP:rs17404799<li>Y->F at 316: in dbSNP:rs17039293<li>R->C at 375: in dbSNP:rs17039307<li>R->S at 386: in dbSNP:rs1052908</ul>									<li>rs1052908</li><li>rs17039293</li><li>rs17404799</li><li>rs1063776</li><li>rs17039307</li><li>rs1063767</li>	2
O95522	390999	<ul><li>T->K at 53: in dbSNP:rs17346571<li>M->T at 157: in dbSNP:rs1812242</ul>									<li>rs1812242</li><li>rs17346571</li>	2
O95528	81031	<ul><li>S->R at 81: in ATS, MIM: 208050<li>A->S at 106: in dbSNP:rs6094438, MIM: 208050<li>R->W at 132: in ATS, MIM: 208050<li>G->V at 142: in ATS, MIM: 208050<li>A->T at 206: associated with lower insulin level; dbSNP:rs2235491, MIM: 208050<li>R->H at 225: in dbSNP:rs34295241, MIM: 208050<li>R->Q at 231: in ATS, MIM: 208050<li>G->E at 246: in ATS, MIM: 208050<li>G->W at 426: in ATS, MIM: 208050<li>E->K at 437: in ATS, MIM: 208050<li>G->E at 445: in ATS, MIM: 208050<li>T->A at 518: in dbSNP:rs6018008, MIM: 208050<li>I->V at 537: in dbSNP:rs7348121, MIM: 208050</ul>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P38977</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P15358</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>	Arterial tortuosity syndrome (ATS) [MIM:208050]	<li>rs34295241</li><li>rs6094438</li><li>rs6018008</li><li>rs2235491</li><li>rs7348121</li>	2
O95544	65220	<ul><li>N->K at 262: in dbSNP:rs4751</ul>									rs4751	2
O95551	51567	<ul><li>S->G at 166: in dbSNP:rs35977478<li>Q->E at 249: in dbSNP:rs2294689<li>R->Q at 268: in dbSNP:rs17249952</ul>									<li>rs35977478</li><li>rs17249952</li><li>rs2294689</li>	2
O95561	92346	<ul><li>M->V at 97: in dbSNP:rs16844498<li>S->N at 137: in dbSNP:rs1129942</ul>									<li>rs1129942</li><li>rs16844498</li>	2
O95567	25770	<ul><li>C->R at 46: in dbSNP:rs9625679<li>T->R at 210: in dbSNP:rs714136</ul>									<li>rs714136</li><li>rs9625679</li>	2
O95568	92342	<ul><li>E->D at 10: in dbSNP:rs10489177<li>F->L at 309: in dbSNP:rs34396097<li>R->H at 318: in dbSNP:rs35984232<li>A->V at 325: in dbSNP:rs16862686<li>K->M at 360: in dbSNP:rs13375701</ul>									<li>rs35984232</li><li>rs13375701</li><li>rs34396097</li><li>rs10489177</li><li>rs16862686</li>	2
O95571	23474	<ul><li>Y->C at 38: in EE, MIM: 602473<li>T->A at 136: in EE, MIM: 602473<li>R->W at 163: in EE: in dbSNP rsrs28940289, MIM: 602473<li>L->R at 185: in EE, MIM: 602473</ul>								Ethylmalonic encephalopathy (EE) [MIM:602473]	rs28940289	2
O95573	2181	<ul><li>F->S at 551: in dbSNP:rs1046032</ul>									rs1046032	2
O95602	25885	<ul><li>P->A at 150: in dbSNP:rs4832242<li>Q->E at 349: in dbSNP:rs17026866<li>K->E at 364: in dbSNP:rs35239368<li>S->N at 396: in dbSNP:rs35443467<li>I->V at 815: in dbSNP:rs34302587<li>A->T at 1141: in dbSNP:rs34892520<li>I->M at 1608: in dbSNP:rs35093541</ul>									<li>rs34892520</li><li>rs35443467</li><li>rs35093541</li><li>rs34302587</li><li>rs4832242</li><li>rs35239368</li><li>rs17026866</li>	2
O95613	5116	<ul><li>T->I at 539: in dbSNP:rs2249060<li>E->G at 704: in dbSNP:rs2839223<li>T->A at 879: in dbSNP:rs2839227<li>A->V at 1038: in dbSNP:rs6518289<li>R->C at 1163: in dbSNP:rs7279204<li>A->T at 1194: in dbSNP:rs35044802<li>I->V at 1639: in dbSNP:rs6518291<li>N->S at 1841: in dbSNP:rs35940413<li>R->H at 1953: in dbSNP:rs34268261<li>R->Q at 1960: in dbSNP:rs34813667<li>L->P at 2097: in dbSNP:rs2839245<li>H->P at 2125: in dbSNP:rs35978208<li>M->R at 2188: in dbSNP:rs1044998<li>S->P at 2191: in dbSNP:rs34151633</ul>									<li>rs2249060</li><li>rs34813667</li><li>rs1044998</li><li>rs7279204</li><li>rs2839227</li><li>rs2839223</li><li>rs2839245</li><li>rs34151633</li><li>rs35940413</li><li>rs35978208</li><li>rs35044802</li><li>rs34268261</li><li>rs6518289</li><li>rs6518291</li>	2
O95620	11062	<ul><li>T->A at 178: in dbSNP:rs6956789<li>R->Q at 230: in dbSNP:rs6957510</ul>									<li>rs6957510</li><li>rs6956789</li>	2
O95625	27107	<ul><li>G->S at 44: in dbSNP:rs3749323<li>T->N at 350: in dbSNP:rs33957144</ul>									<li>rs3749323</li><li>rs33957144</li>	2
O95626	23519	<ul><li>L->F at 46: in dbSNP:rs7956679</ul>									rs7956679	2
O95628	4850	<ul><li>A->G at 7: in dbSNP:rs17480616</ul>									rs17480616	2
O95631	9423	<ul><li>R->H at 351: in neuroblastoma<li>K->E at 489: in neuroblastoma</ul>										2
O95644	4772	<ul><li>A->T at 315: in a colorectal cancer sample; somatic mutation</ul>										2
O95665	23620	<ul><li>V->A at 54: in dbSNP:rs6432225</ul>									rs6432225	2
O95672	9427	<ul><li>H->Q at 10: in dbSNP:rs2741281<li>H->Y at 328: in dbSNP:rs1529874</ul>									<li>rs1529874</li><li>rs2741281</li>	2
O95677	2070	<ul><li>L->R at 152: in a colorectal cancer sample; somatic mutation<li>G->S at 277: in dbSNP:rs9493627<li>D->N at 301: in a colorectal cancer sample; somatic mutation</ul>									rs9493627	2
O95678	9119	<ul><li>R->C at 39: in dbSNP:rs2232384<li>G->R at 91: in dbSNP:rs298109<li>P->A at 117: in dbSNP:rs2232386<li>A->T at 161: common polymorphism; may increase risk to develop PFB; the variant is disruptive at late stages of filament assembly compromising the aggregation of keratin molecules into intermediate filaments; dbSNP:rs2232387<li>R->Q at 209: in dbSNP:rs2232390<li>E->G at 242: in dbSNP:rs2232393<li>E->K at 337: in LAHS; dbSNP:rs2232398, MIM: 600628<li>I->V at 367: in dbSNP:rs2232402, MIM: 600628<li>M->T at 427: in dbSNP:rs2232405, MIM: 600628<li>R->C at 432: in dbSNP:rs2232406, MIM: 600628<li>R->S at 485: in dbSNP:rs298104, MIM: 600628</ul>					intermediate filaments	GO:0005882		Loose anagen hair syndrome (LAHS) [MIM:600628]	<li>rs2232390</li><li>rs2232393</li><li>rs2232384</li><li>rs298104</li><li>rs2232402</li><li>rs2232387</li><li>rs2232406</li><li>rs2232405</li><li>rs2232398</li><li>rs298109</li><li>rs2232386</li>	2
O95684	11116	<ul><li>K->N at 271: in dbSNP:rs17856382</ul>									rs17856382	2
O95696	23774	<ul><li>R->G at 38: in dbSNP:rs11549978<li>A->S at 321: in dbSNP:rs12157714<li>A->T at 730: in dbSNP:rs35331092</ul>									<li>rs35331092</li><li>rs12157714</li><li>rs11549978</li>	2
O95704		<ul><li>G->R at 165: in dbSNP:rs7715021<li>R->C at 231: in dbSNP:rs250430</ul>									<li>rs250430</li><li>rs7715021</li>	2
O95711	9450	<ul><li>S->P at 93: in dbSNP:rs5743649<li>Y->C at 121: in dbSNP:rs5743651<li>M->V at 160: in dbSNP:rs1802323</ul>									<li>rs5743651</li><li>rs1802323</li><li>rs5743649</li>	2
O95716	9545	<ul><li>V->I at 64: in dbSNP:rs3969860</ul>									rs3969860	2
O95718	2103	<ul><li>A->V at 110: in DFNB35, MIM: 608565<li>L->P at 320: in DFNB35, MIM: 608565<li>V->L at 342: in DFNB35, MIM: 608565<li>L->P at 347: in DFNB35, MIM: 608565<li>P->S at 386: in dbSNP rsrs61742642, MIM: 608565<li>T->M at 389: in DFNB35; uncertain pathological significance, MIM: 608565</ul>								Non-syndromic sensorineural deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	rs61742642	2
O95727	56253	<ul><li>E->A at 16: in dbSNP:rs35411582<li>A->D at 78: in dbSNP:rs34397316<li>D->G at 173: in dbSNP:rs35136295<li>K->R at 321: in dbSNP:rs2272094<li>A->G at 368: in dbSNP:rs1916036</ul>									<li>rs2272094</li><li>rs34397316</li><li>rs1916036</li><li>rs35136295</li><li>rs35411582</li>	2
O95747	9943	<ul><li>T->I at 304: in dbSNP:rs6599079<li>S->T at 425: in dbSNP rsrs35295772<li>P->S at 433: in a metastatic melanoma sample; somatic mutation</ul>									<li>rs35295772</li><li>rs6599079</li>	2
O95755	9609	<ul><li>P->L at 50: in dbSNP:rs9624036<li>N->D at 308: in dbSNP:rs5759612<li>E->K at 320: in dbSNP:rs9624038</ul>									<li>rs5759612</li><li>rs9624038</li><li>rs9624036</li>	2
O95757	22824	<ul><li>S->L at 211: in dbSNP:rs1380154<li>N->T at 216: in dbSNP:rs12507229</ul>									<li>rs1380154</li><li>rs12507229</li>	2
O95759	11138	<ul><li>T->A at 74: in dbSNP:rs2289953<li>G->R at 711: in dbSNP:rs1062062<li>R->G at 836: in dbSNP:rs746924<li>M->V at 865: in dbSNP:rs3739011</ul>									<li>rs746924</li><li>rs3739011</li><li>rs1062062</li><li>rs2289953</li>	2
O95760	90865	<ul><li>I->M at 263: in dbSNP:rs16924241</ul>									rs16924241	2
O95780	91120	<ul><li>V->M at 65: in dbSNP:rs7255165<li>T->I at 209: in dbSNP:rs2075090<li>V->I at 450: in dbSNP:rs17679334</ul>									<li>rs17679334</li><li>rs2075090</li><li>rs7255165</li>	2
O95786	23586	<ul><li>R->C at 7: in dbSNP:rs10813831<li>D->E at 580: in dbSNP:rs17217280</ul>									<li>rs17217280</li><li>rs10813831</li>	2
O95789	9204	<ul><li>K->R at 660: in dbSNP:rs10158256<li>E->K at 1233: in dbSNP:rs16837147</ul>									<li>rs16837147</li><li>rs10158256</li>	2
O95800	10936	<ul><li>A->T at 116: in dbSNP:rs34000641<li>C->G at 160: in dbSNP:rs35349235<li>L->V at 433: in dbSNP:rs3731969</ul>									<li>rs3731969</li><li>rs35349235</li><li>rs34000641</li>	2
O95801	7268	<ul><li>S->T at 47: in dbSNP:rs1147990</ul>									rs1147990	2
O95803	9348	<ul><li>H->Q at 264: in a colorectal cancer sample; somatic mutation</ul>										2
O95807	23585	<ul><li>A->V at 58: in dbSNP:rs3093647<li>F->L at 141</ul>									rs3093647	2
O95810	8436	<ul><li>E->D at 130: in dbSNP:rs35012125</ul>									rs35012125	2
O95813	9350	<ul><li>R->W at 19: in dbSNP:rs10115703<li>A->G at 65: in dbSNP:rs3747532<li>V->I at 179: in dbSNP:rs7036635</ul>									<li>rs10115703</li><li>rs3747532</li><li>rs7036635</li>	2
O95817	9531	<ul><li>R->Q at 71: in dbSNP:rs35434411<li>C->R at 151: in dbSNP:rs2234962<li>A->V at 405: in dbSNP:rs11199064<li>P->L at 407: in dbSNP:rs3858340</ul>									<li>rs35434411</li><li>rs2234962</li><li>rs3858340</li><li>rs11199064</li>	2
O95819	9448	<ul><li>S->T at 712: in dbSNP rsrs56048147</ul>									rs56048147	2
O95825	9946	<ul><li>A->T at 39: in dbSNP:rs13050238</ul>									rs13050238	2
O95833	9022	<ul><li>P->H at 38: in dbSNP:rs2292923</ul>									rs2292923	2
O95834	24139	<ul><li>M->V at 33: in dbSNP:rs12151009<li>L->F at 187: in dbSNP:rs7252175<li>E->D at 235: in dbSNP:rs1545040<li>R->H at 357: in dbSNP:rs3816045<li>V->L at 484: in a colorectal cancer sample; somatic mutation</ul>									<li>rs1545040</li><li>rs7252175</li><li>rs3816045</li><li>rs12151009</li>	2
O95835	9113	<ul><li>R->W at 96: in dbSNP rsrs55945045<li>S->G at 204: in dbSNP rsrs34793526<li>P->Q at 237: in dbSNP rsrs56149740<li>R->W at 370: in dbSNP rsrs56348064<li>P->S at 531: in dbSNP rsrs55874734<li>F->L at 641: in dbSNP rsrs35163691<li>M->I at 669: in a lung adenocarcinoma sample; somatic mutation<li>R->P at 806: in a lung large cell carcinoma sample; somatic mutation<li>G->S at 1000: in dbSNP rsrs56412005</ul>									<li>rs56412005</li><li>rs35163691</li><li>rs56348064</li><li>rs34793526</li><li>rs56149740</li><li>rs55945045</li><li>rs55874734</li>	2
O95838	9340	<ul><li>H->L at 22: in dbSNP:rs8072568<li>D->N at 470: in dbSNP:rs17681684<li>R->H at 523: in dbSNP:rs16958918</ul>									<li>rs8072568</li><li>rs17681684</li><li>rs16958918</li>	2
O95847	9481	<ul><li>I->T at 197: in dbSNP:rs35884480</ul>									rs35884480	2
O95863	6615	<ul><li>V->A at 118: in dbSNP:rs4647958</ul>									rs4647958	2
O95866	80739	<ul><li>R->G at 175: in dbSNP:rs11575845</ul>									rs11575845	2
O95867	80740	<ul><li>L->M at 63: in dbSNP:rs13214568</ul>									rs13214568	2
O95868	58530	<ul><li>L->V at 9: in dbSNP:rs3749952<li>S->T at 34: in dbSNP:rs9267550</ul>									<li>rs3749952</li><li>rs9267550</li>	2
O95872	7918	<ul><li>R->L at 41: in dbSNP:rs3130618<li>A->V at 112: in dbSNP:rs35265780<li>S->A at 210: in dbSNP:rs34082689<li>A->V at 235: in dbSNP:rs2295666</ul>									<li>rs34082689</li><li>rs35265780</li><li>rs2295666</li><li>rs3130618</li>	2
O95873	57827	<ul><li>R->G at 68: in dbSNP rsrs3130617</ul>									rs3130617	2
O95876	51057	<ul><li>G->S at 268: in dbSNP:rs17617459</ul>									rs17617459	2
O95897	93145	<ul><li>T->M at 86: in a colorectal cancer sample; somatic mutation<li>R->Q at 106: in dbSNP:rs2303100<li>T->M at 127: in dbSNP:rs11556087</ul>									<li>rs11556087</li><li>rs2303100</li>	2
O95900	26995	<ul><li>P->L at 79: in dbSNP:rs2231630<li>V->L at 93: in dbSNP:rs2072394<li>T->S at 209: in dbSNP:rs2231637</ul>									<li>rs2231637</li><li>rs2072394</li><li>rs2231630</li>	2
O95905	11319	<ul><li>R->Q at 45: in dbSNP:rs3812619<li>R->G at 281: could be a rare polymorphism<li>E->Q at 452: in dbSNP:rs3736518<li>N->S at 501: in dbSNP:rs36152134<li>D->G at 634: in dbSNP:rs2271904</ul>									<li>rs3812619</li><li>rs3736518</li><li>rs36152134</li><li>rs2271904</li>	2
O95907	23539	<ul><li>V->A at 405: in dbSNP:rs2076371</ul>									rs2076371	2
O95918		<ul><li>F->I at 30: in dbSNP:rs3129034<li>F->S at 30<li>A->V at 48: in dbSNP:rs1233387<li>T->A at 220</ul>									<li>rs1233387</li><li>rs3129034</li>	2
O95922	25809	<ul><li>S->L at 168: in dbSNP:rs6003030</ul>									rs6003030	2
O95925	57119	<ul><li>H->R at 92: in dbSNP:rs2231838<li>K->T at 128: in dbSNP:rs2231839</ul>									<li>rs2231839</li><li>rs2231838</li>	2
O95932	343641	<ul><li>M->V at 58: in dbSNP:rs2076405</ul>									rs2076405	2
O95935	9096	<ul><li>G->R at 48: in dbSNP:rs172562</ul>									rs172562	2
O95936	8320	<ul><li>E->Q at 667: in a breast cancer sample; somatic mutation</ul>										2
O95944	9436	<ul><li>M->V at 75: in dbSNP:rs9471577<li>P->S at 139: in dbSNP:rs2236369<li>I->K at 218: in dbSNP:rs2273961<li>V->M at 223: in dbSNP:rs2273962</ul>									<li>rs2236369</li><li>rs2273962</li><li>rs2273961</li><li>rs9471577</li>	2
O95947	6911	<ul><li>S->F at 178: in dbSNP:rs12925839<li>P->S at 179: in dbSNP:rs12925838</ul>									<li>rs12925839</li><li>rs12925838</li>	2
O95954	10841	<ul><li>R->C at 135: in glutamate formiminotransferase deficiency; mild phenotype; 61% wild-type activity: in dbSNP rsrs28941768, MIM: 229100<li>R->P at 299: in glutamate formiminotransferase deficiency; mild phenotype; 57% wild-type activity, MIM: 229100<li>A->E at 438, MIM: 229100</ul>							<li>O88618</li><li>P53603</li><li>Q91XD4</li><li>O95954</li>	Glutamate formiminotransferase deficiency [MIM:229100]	rs28941768	2
O95965	9358	<ul><li>A->S at 154: in dbSNP:rs1140605</ul>									rs1140605	2
O95967		<ul><li>E->K at 57: in CL type I, MIM: 219100<li>I->V at 259: in dbSNP:rs601314, MIM: 219100</ul>								Autosomal recessive cutis laxa type I (CL type I) [MIM:219100]	rs601314	2
O95969	10647	<ul><li>P->L at 53: in dbSNP:rs2232950<li>V->A at 80: in dbSNP:rs2276427</ul>									<li>rs2232950</li><li>rs2276427</li>	2
O95970	9211	<ul><li>L->R at 26: in ADLTE; probably affects signal sequence processing and secretion, MIM: 600512<li>C->G at 42: in ADLTE, MIM: 600512<li>C->R at 46: in ADLTE, MIM: 600512<li>F->C at 318: in ADLTE: in dbSNP rsrs28939075, MIM: 600512<li>E->A at 383: in ADLTE: in dbSNP rsrs28937874, MIM: 600512<li>S->L at 473: in ADLTE, MIM: 600512</ul>	secretion	GO:0046903						Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	<li>rs28939075</li><li>rs28937874</li>	2
O95971	11126	<ul><li>I->V at 91: in dbSNP:rs2231373</ul>									rs2231373	2
O95972		<ul><li>Y->C at 235: in ODG2; dominant-negative effect; may cause relevant modifications in the conformation of the precursor protein possibly leading to altered processing and impaired activation of latent forms or to abnormal dimerization, MIM: 300510</ul>								Ovarian dysgenesis 2 (ODG2) [MIM:300510]		2
O95976	10261	<ul><li>Q->R at 74: in dbSNP:rs17851574<li>F->S at 173: in dbSNP:rs2290612<li>N->K at 186: in dbSNP:rs1134034</ul>									<li>rs17851574</li><li>rs1134034</li><li>rs2290612</li>	2
O95977	8698	<ul><li>R->L at 365: in dbSNP:rs3746072</ul>									rs3746072	2
O95980	8434	<ul><li>V->I at 275: in dbSNP:rs16932912</ul>									rs16932912	2
O95985	8940	<ul><li>D->N at 365: in dbSNP:rs9610728</ul>									rs9610728	2
O95988	9623	<ul><li>G->R at 93: in dbSNP:rs1064017</ul>									rs1064017	2
O95990	11170	<ul><li>L->M at 15: in ovarian cancer and renal cell carcinoma cell lines<li>P->L at 19: in renal cell carcinoma cell line<li>A->S at 89: in dbSNP:rs1043942<li>E->Q at 141: in dbSNP:rs11539086</ul>									<li>rs11539086</li><li>rs1043942</li>	2
O95992	9023	<ul><li>L->P at 133: in dbSNP:rs17117295</ul>									rs17117295	2
O95995	2622	<ul><li>E->K at 199: in dbSNP:rs868044<li>R->Q at 259: in dbSNP:rs17178299</ul>									<li>rs868044</li><li>rs17178299</li>	2
O95996	10297	<ul><li>A->S at 562: in a breast cancer sample; somatic mutation<li>G->S at 2003: in a breast cancer sample; somatic mutation<li>S->A at 2241: in dbSNP:rs265277</ul>									rs265277	2
O95998	10068	<ul><li>R->Q at 119: in dbSNP:rs5743673<li>S->C at 195: in dbSNP:rs5743674</ul>									<li>rs5743674</li><li>rs5743673</li>	2
O95999	8915	<ul><li>A->S at 5: in MALT lymphoma and mesothelioma; dbSNP:rs12037217<li>V->E at 16: in MALT lymphoma<li>K->E at 31: in MALT lymphoma<li>K->Q at 45: in mesothelioma<li>T->I at 52: in mesothelioma<li>C->R at 57: in MALT lymphoma<li>R->G at 58: in germ cell tumor<li>R->Q at 58: in mesothelioma<li>R->K at 64: in MALT lymphoma<li>N->S at 93: in mesothelioma<li>D->E at 101: in MALT lymphoma<li>S->P at 134: in MALT lymphoma<li>M->V at 153: in mesothelioma<li>T->A at 168: in MALT lymphoma<li>L->S at 174: in MALT lymphoma<li>Missing  at 210: in follicular lymphoma<li>G->E at 213: in MALT lymphoma and mesothelioma; dbSNP:rs3768235<li>S->F at 218: in germ cell tumor, mesothelioma and other cancer cell lines<li>V->I at 230: in MALT lymphoma</ul>									<li>rs12037217</li><li>rs3768235</li>	2
O96001	10842	<ul><li>L->R at 10: in dbSNP:rs36047130<li>V->L at 12: in dbSNP:rs3735422</ul>									<li>rs36047130</li><li>rs3735422</li>	2
O96002	9142	<ul><li>S->A at 36: in dbSNP:rs3752359</ul>									rs3752359	2
O96007	4338	<ul><li>T->A at 50: in dbSNP:rs2233213<li>T->A at 77: in dbSNP:rs2233215<li>H->Y at 123: in dbSNP:rs2233218<li>E->K at 168: in MOCOD type B, MIM: 252150<li>N->S at 187: in dbSNP:rs2233221, MIM: 252150</ul>							P02854	Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]	<li>rs2233213</li><li>rs2233221</li><li>rs2233215</li><li>rs2233218</li>	2
O96009	9476	<ul><li>I->T at 40: in dbSNP:rs676314<li>A->T at 310: in dbSNP:rs11670727</ul>									<li>rs11670727</li><li>rs676314</li>	2
O96013	10298	<ul><li>R->Q at 135: in dbSNP rsrs56099436<li>A->T at 139: in dbSNP rsrs35655056</ul>									<li>rs35655056</li><li>rs56099436</li>	2
O96017	11200	<ul><li>A->S at 17: in osteosarcoma; somatic mutation; might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer<li>T->K at 59: in multiple cancers<li>E->K at 64: in prostate cancer; somatic mutation<li>P->L at 85: in osteosarcoma; is a neutral allele among Ashkenazi Jewish women; dbSNP:rs17883862<li>R->G at 117: might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer: in dbSNP rsrs28909982<li>R->Q at 137: might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer<li>R->P at 145: in prostate cancer; somatic mutation<li>R->W at 145: in colon cancer and LFS2; does not cause protein abrogation in familial colorectal cancer, MIM: 609265<li>I->T at 157: might influence susceptibility to diffferent types of cancer; does not cause protein abrogation in familial colorectal cancer; dbSNP:rs17879961, MIM: 609265<li>G->R at 167: in prostate cancer; somatic mutation, MIM: 609265<li>R->C at 180: in prostate cancer; somatic mutation, MIM: 609265<li>R->H at 180: in prostate cancer; somatic mutation, MIM: 609265<li>R->C at 181: in prostate cancer; somatic mutation, MIM: 609265<li>R->H at 181: in prostate cancer; somatic mutation, MIM: 609265<li>E->K at 239: in prostate cancer; germline mutation, MIM: 609265<li>I->F at 251: in prostate cancer; germline mutation, MIM: 609265<li>R->H at 318: in prostate cancer; somatic mutation, MIM: 609265<li>T->P at 323: in prostate cancer; somatic mutation, MIM: 609265<li>Y->C at 327: in prostate cancer; somatic mutation, MIM: 609265<li>D->N at 347: in dbSNP:rs28909980, MIM: 609265<li>R->H at 406: in dbSNP:rs299671, MIM: 609265<li>S->F at 428: increases breast cancer risk approximately 2-fold among Ashkenazi Jewish women, MIM: 609265<li>L->M at 436: in dbSNP:rs17882922, MIM: 609265<li>N->K at 446: in dbSNP:rs17880867, MIM: 609265<li>F->I at 447: in dbSNP:rs17881473, MIM: 609265<li>I->S at 448: in dbSNP:rs17886163, MIM: 609265<li>T->K at 476: in prostate cancer; somatic mutation, MIM: 609265<li>S->C at 500: in dbSNP:rs28909981, MIM: 609265<li>E->K at 501: in dbSNP:rs17883172, MIM: 609265<li>L->V at 512: in dbSNP:rs17882942, MIM: 609265</ul>								Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]	<li>rs17886163</li><li>rs17882922</li><li>rs17880867</li><li>rs28909981</li><li>rs28909980</li><li>rs17882942</li><li>rs17883862</li><li>rs17879961</li><li>rs17883172</li><li>rs299671</li><li>rs28909982</li><li>rs17881473</li>	2
O96018	9546	<ul><li>W->L at 154: in dbSNP:rs35932323<li>K->T at 276: in dbSNP:rs3746119<li>C->R at 376: in dbSNP:rs8102086<li>I->F at 527: in dbSNP:rs1045236</ul>									<li>rs1045236</li><li>rs3746119</li><li>rs35932323</li><li>rs8102086</li>	2
O96020	9134	<ul><li>N->S at 387: in dbSNP:rs28399585</ul>									rs28399585	2
O96033	4338	<ul><li>V->F at 7: in MOCOD type B; in a patient with mild form of the disease; impairs interaction with MOCS2B, MIM: 252150<li>V->A at 51: in dbSNP:rs2233210, MIM: 252150</ul>							<li>P02854</li><li>Q9Z223</li><li>O96007</li>	Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]	rs2233210	2
O97980	57824	<ul><li>H->Y at 16: in allele HB-1Y; loss of CTL recognition for epitope HB-1. No influence on HLA-B/HLA-B44 binding, nor on the processing by the proteasome; dbSNP:rs161557</ul>			binding	GO:0005488			<li>P30480</li><li>Q95365</li><li>Q29718</li><li>Q04826</li><li>P30498</li><li>P30479</li><li>P30495</li><li>P03989</li><li>P30493</li><li>P10319</li><li>P30492</li><li>P41416</li><li>P30475</li><li>Q29940</li><li>P30491</li><li>P30685</li><li>P30490</li><li>P18464</li><li>P18463</li><li>P01889</li><li>P18465</li><li>Q31610</li><li>Q29836</li><li>P30481</li><li>P30464</li><li>P30483</li><li>P30466</li><li>P30484</li><li>P30485</li><li>Q31612</li><li>P30460</li><li>P30486</li><li>P30461</li><li>P30487</li><li>P30462</li><li>P30488</li>		rs161557	2
P00156	4519	<ul><li>I->T at 7<li>N->S at 8<li>F->L at 18<li>G->S at 34: in mitochondrial myopathy; sporadic<li>S->P at 35: in exercice intolerance; with cardiomyopathy and septo-optic dysplasia<li>A->T at 39<li>A->V at 39<li>I->T at 78<li>I->V at 78<li>R->H at 80: in colorectal cancer<li>A->P at 87<li>A->T at 122<li>T->A at 123<li>S->P at 151: in exercise intolerance<li>I->T at 153<li>I->V at 164<li>G->E at 166: in hyperthrophic cardiomyopathy<li>D->N at 171: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000<li>IA->VT at 189-190, MIM: 535000<li>A->T at 191, MIM: 535000<li>T->A at 194, MIM: 535000<li>A->T at 229, MIM: 535000<li>L->I at 236, MIM: 535000<li>Missing  at 251-258: in mitochondrial myopathy; sporadic, MIM: 535000<li>G->D at 251: in CMIH, MIM: 500000<li>G->S at 251: associated with susceptibility to obesity, MIM: 500000<li>N->H at 255: in cardiomyopathy; fatal; post-partum, MIM: 500000<li>N->D at 260, MIM: 500000<li>F->L at 276: in colorectal cancer, MIM: 500000<li>Y->C at 278: in multisystem disorder, MIM: 500000<li>G->D at 290: in exercise intolerance, MIM: 500000<li>I->T at 306, MIM: 500000<li>M->T at 316, MIM: 500000<li>A->T at 329, MIM: 500000<li>A->T at 330, MIM: 500000<li>I->V at 334, MIM: 500000<li>G->E at 339: in mitochondrial myopathy, MIM: 500000<li>V->M at 353, MIM: 500000<li>V->M at 356: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000<li>T->A at 360, MIM: 535000<li>T->I at 368, MIM: 535000</ul>								<li>Cardiomyopathy infantile histiocytoid (CMIH) [MIM:500000]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li>		2
P00325	125	<ul><li>R->H at 48: in beta-2; allele ADH1B*2; common in Asian populations; associated with a lower risk of alcoholism: in dbSNP rsrs1229984<li>N->K at 57: in dbSNP:rs1041969<li>T->S at 60: in dbSNP:rs6413413<li>R->C at 370: in beta-3/Indianapolis; allele ADH1B*3; decreased NAD: in dbSNP rsrs2066702</ul>							<li>Q5R1W2</li><li>P14139</li><li>P00325</li>		<li>rs6413413</li><li>rs1229984</li><li>rs2066702</li><li>rs1041969</li>	2
P00326	126	<ul><li>R->H at 48: in dbSNP:rs35385902<li>P->S at 166: in dbSNP rsrs34195308<li>R->Q at 272: in allele ADH3*2/gamma-2; dbSNP:rs1693482<li>I->V at 350: in allele ADH3*2/gamma-2; dbSNP:rs698<li>P->T at 352: in dbSNP:rs35719513</ul>							<li>O97959</li><li>Q24857</li><li>P10848</li><li>O19053</li><li>P49384</li><li>P07246</li><li>P00326</li><li>P19631</li><li>P14675</li><li>P02528</li>		<li>rs34195308</li><li>rs35719513</li><li>rs698</li><li>rs35385902</li><li>rs1693482</li>	2
P00338	3939	<ul><li>K->E at 222<li>R->C at 315: in LDHA deficiency</ul>							<li>P00341</li><li>Q92055</li><li>O93541</li><li>O93540</li><li>O93543</li><li>O93542</li><li>O93545</li><li>O93544</li><li>O13278</li><li>P13491</li><li>O13277</li><li>O13276</li><li>O93546</li><li>Q9PW07</li><li>Q9W7M6</li><li>Q9PW06</li><li>Q9W7K5</li><li>Q9PW61</li><li>Q9BE24</li><li>Q9XT87</li><li>P69082</li><li>P69081</li><li>P69080</li><li>P00338</li><li>P00339</li><li>P19858</li><li>Q5R1W9</li><li>Q9W7L3</li><li>O93401</li><li>P69086</li><li>P69085</li><li>P69084</li><li>P69083</li><li>O93539</li><li>O93537</li><li>Q5R5F0</li><li>O93538</li><li>Q9W7L5</li><li>Q9P4B6</li><li>Q98SL2</li><li>Q98SL0</li><li>Q9PT43</li><li>P79912</li><li>Q9PW58</li><li>P00340</li>			2
P00352	216	<ul><li>N->S at 121: in dbSNP:rs1049981<li>G->R at 125: in dbSNP:rs11554423<li>I->F at 177: in dbSNP:rs8187929</ul>									<li>rs1049981</li><li>rs8187929</li><li>rs11554423</li>	2
P00367	2746	<ul><li>S->C at 270: in HHS; diminished sensitivity to GTP, MIM: 606762<li>R->C at 274: in HHS; diminished sensitivity to GTP: in dbSNP rsrs56275071, MIM: 606762<li>R->K at 318: in HHS, MIM: 606762<li>R->T at 318: in HHS; diminished sensitivity to GTP, MIM: 606762<li>Y->C at 319: in HHS, MIM: 606762<li>R->C at 322: in HHS; diminished sensitivity to GTP, MIM: 606762<li>R->H at 322: in HHS; diminished sensitivity to GTP, MIM: 606762<li>E->A at 349: in HHS, MIM: 606762<li>S->L at 498: in HHS, MIM: 606762<li>G->D at 499: in HHS, MIM: 606762<li>G->S at 499: in HHS, MIM: 606762<li>S->P at 501: in HHS, MIM: 606762<li>H->Y at 507: in HHS; abolishes inhibition by ATP; no effect on activation by ADP, MIM: 606762</ul>							P02783	Hyperinsulinism-hyperammonemia syndrome (HHS) [MIM:606762]	rs56275071	2
P00387	1727	<ul><li>R->Q at 58: in HM; type 1; 62% of activity, MIM: 250800<li>S->P at 66: in dbSNP:rs1130706, MIM: 250800<li>L->P at 73: in HM; type 1, MIM: 250800<li>V->M at 106: in HM; type 1; 77% of activity, MIM: 250800<li>T->S at 117: in dbSNP:rs1800457, MIM: 250800<li>S->P at 128: in HM; type 2; Hiroshima, MIM: 250800<li>L->P at 149: in HM; type 3, MIM: 250800<li>A->V at 179: in HM; type 1, MIM: 250800<li>C->R at 204: in HM; type 2, MIM: 250800<li>C->Y at 204: in HM; type 1, MIM: 250800<li>Missing  at 256: in HM; type 1; retains approximately 38% of residual diaphorase activity, MIM: 250800<li>Missing  at 273: in HM; type 2, MIM: 250800<li>G->D at 292: in HM; type 1; retains approximately 58% of residual diaphorase activity, MIM: 250800<li>Missing  at 299: in HM; type2; almost complete loss of activity, MIM: 250800</ul>								Hereditary methemoglobinemia (HM) [MIM:250800]	<li>rs1800457</li><li>rs1130706</li>	2
P00390	2936	<ul><li>R->C at 153: in dbSNP:rs8190955<li>G->R at 232: in dbSNP:rs8190976<li>G->S at 232<li>I->V at 261: in dbSNP:rs8190997<li>E->D at 297: in dbSNP:rs8191004<li>P->H at 314: in dbSNP:rs2020916</ul>									<li>rs8191004</li><li>rs8190976</li><li>rs8190955</li><li>rs8190997</li><li>rs2020916</li>	2
P00395	4512	<ul><li>T->A at 10<li>F->C at 94<li>S->F at 142: in COX deficiency; significant decrease in enzyme activity, MIM: 220110<li>V->L at 155, MIM: 220110<li>L->I at 196: in COX deficiency, MIM: 220110<li>G->A at 224, MIM: 220110<li>F->S at 235, MIM: 220110<li>M->T at 273: in AISA, MIM: 516030<li>I->T at 280: in AISA, MIM: 516030<li>F->L at 305, MIM: 516030<li>T->A at 415, MIM: 516030<li>S->SKQK at 513: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 516030</ul>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	<li>Acquired idiopathic sidereoblastic anemia (AISA) [MIM:516030]</li><li>Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]</li>		2
P00403	4513	<ul><li>D->A at 11<li>M->K at 29: in COX deficiency; affect the stability of the COX complex, MIM: 220110<li>I->V at 30, MIM: 220110<li>L->P at 123, MIM: 220110<li>V->M at 142: in colorectal cancer, MIM: 220110<li>A->T at 148, MIM: 220110<li>T->M at 187, MIM: 220110</ul>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]		2
P00414		<ul><li>H->R at 3<li>F->S at 35<li>G->S at 78: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000<li>V->I at 91, MIM: 535000<li>Missing  at 94-98: in COX deficiency; with recurrent myoglobinuria, MIM: 535000<li>Q->R at 177, MIM: 535000<li>A->T at 200: in LHON; possible rare primary mutation, MIM: 535000<li>F->L at 251: in a patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, MIM: 535000<li>V->I at 254, MIM: 535000</ul>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Leber hereditary optic neuropathy (LHON) [MIM:535000]		2
P00439	5053	<ul><li>S->P at 16: in PKU, MIM: 261600<li>Q->L at 20: in HPA, MIM: 261600<li>F->L at 39: in PKU; haplotype 1, MIM: 261600<li>Missing  at 39: in PKU; haplotypes 9,21, MIM: 261600<li>S->L at 40: in PKU, MIM: 261600<li>L->F at 41: in PKU, MIM: 261600<li>L->P at 41: in PKU; mild, MIM: 261600<li>K->I at 42: in PKU; haplotype 21, MIM: 261600<li>G->S at 46: in PKU; haplotype 5; significantly reduces phenylalanine binding, MIM: 261600<li>A->V at 47: in non-PKU HPA; haplotype 4; significantly reduces phenylalanine binding, MIM: 261600<li>L->S at 48: in PKU; mild; haplotypes 3,4: in dbSNP rsrs5030841, MIM: 261600<li>R->H at 53: in PKU, MIM: 261600<li>F->L at 55: in PKU, MIM: 261600<li>E->D at 56: in PKU; haplotype 10, MIM: 261600<li>TH->PN at 63-64: in PKU; haplotype 1; abolishes phenylalanine binding, MIM: 261600<li>I->N at 65: in PKU, MIM: 261600<li>I->T at 65: in PKU; haplotypes 1,5,9,21,B; abolishes phenylalanine binding, MIM: 261600<li>S->P at 67: in PKU; haplotype 4: in dbSNP rsrs5030842, MIM: 261600<li>R->S at 68: in PKU; haplotype 1; significantly reduces phenylalanine binding, MIM: 261600<li>E->A at 76: in PKU, MIM: 261600<li>D->Y at 84: in PKU; haplotype 4, MIM: 261600<li>S->R at 87: in non-PKU HPA; haplotype 1, MIM: 261600<li>T->I at 92: in PKU, MIM: 261600<li>Missing  at 94: in PKU; mild; haplotype 2, MIM: 261600<li>L->S at 98: in non-PKU HPA, MIM: 261600<li>A->D at 104: in PKU; mild; haplotype 1, MIM: 261600<li>S->C at 110: in HPA, MIM: 261600<li>T->I at 124: in PKU; haplotype 28, MIM: 261600<li>D->Y at 129: in PKU, MIM: 261600<li>D->G at 143: in PKU; haplotype 11, MIM: 261600<li>D->V at 145: in PKU, MIM: 261600<li>H->Y at 146: in PKU, MIM: 261600<li>G->S at 148: in PKU; haplotypes 1,2,7, MIM: 261600<li>D->H at 151: in PKU; haplotypes 1,8, MIM: 261600<li>Y->N at 154: in PKU, MIM: 261600<li>R->P at 155: in PKU, MIM: 261600<li>R->N at 157: in PKU; severe; 5% activity; requires 2 nucleotide substitutions, MIM: 261600<li>R->Q at 158: in PKU; haplotypes 1,2,4,7,16, 28: in dbSNP rsrs5030843, MIM: 261600<li>R->W at 158: in PKU, MIM: 261600<li>Q->P at 160: in PKU, MIM: 261600<li>F->S at 161: in PKU; haplotype 4, MIM: 261600<li>I->T at 164: in PKU; haplotype 1, MIM: 261600<li>N->I at 167: in PKU, MIM: 261600<li>N->S at 167: in HPA, MIM: 261600<li>R->H at 169: in PKU, MIM: 261600<li>H->D at 170: in HPA, MIM: 261600<li>H->R at 170: in PKU, MIM: 261600<li>G->A at 171: in PKU; haplotype 1, MIM: 261600<li>G->R at 171: in PKU, MIM: 261600<li>P->T at 173: in PKU; haplotype 4, MIM: 261600<li>I->T at 174: in PKU; haplotype 1, MIM: 261600<li>I->V at 174: in PKU, MIM: 261600<li>P->A at 175: in PKU, MIM: 261600<li>R->L at 176: in non-PKU HPA, MIM: 261600<li>R->P at 176: in PKU, MIM: 261600<li>V->L at 177: in PKU; haplotype 6, MIM: 261600<li>E->G at 178: in non-PKU HPA, MIM: 261600<li>E->Q at 183: in PKU, MIM: 261600<li>V->A at 190: in PKU; haplotype 3, MIM: 261600<li>L->P at 194: in PKU: in dbSNP rsrs5030844, MIM: 261600<li>Missing  at 194: in PKU, MIM: 261600<li>Missing  at 197: in PKU, MIM: 261600<li>Missing  at 198: in PKU; haplotype 2, MIM: 261600<li>H->R at 201: in PKU, MIM: 261600<li>H->Y at 201: in non-PKU HPA; haplotype 1, MIM: 261600<li>Y->C at 204: in PKU; mild; haplotypes 3,4, MIM: 261600<li>E->A at 205: in PKU, MIM: 261600<li>Y->D at 206: in PKU, MIM: 261600<li>N->D at 207: in PKU, MIM: 261600<li>N->S at 207: in PKU; severe; haplotype 4, MIM: 261600<li>P->T at 211: in PKU; haplotype 4, MIM: 261600<li>L->P at 212: in PKU, MIM: 261600<li>L->P at 213: in PKU; severe, MIM: 261600<li>C->G at 217: in PKU, MIM: 261600<li>G->V at 218: in PKU; haplotypes 1,2, MIM: 261600<li>E->G at 221: in PKU; haplotype 4, MIM: 261600<li>D->V at 222: in PKU; haplotypes 3,4, MIM: 261600<li>I->M at 224: in PKU; haplotype 4, MIM: 261600<li>P->R at 225: in PKU, MIM: 261600<li>P->T at 225: in PKU; haplotype 1, MIM: 261600<li>V->I at 230: in non-PKU HPA; haplotype 4, MIM: 261600<li>S->F at 231: in PKU, MIM: 261600<li>S->P at 231: in PKU: in dbSNP rsrs5030845, MIM: 261600<li>F->L at 233: in PKU; haplotypes 2,3, MIM: 261600<li>T->P at 238: in PKU; haplotype 4, MIM: 261600<li>G->S at 239: in PKU, MIM: 261600<li>F->S at 240: in PKU, MIM: 261600<li>R->C at 241: in non-PKU HPA and PKU; haplotype 34, MIM: 261600<li>R->H at 241: in PKU; haplotypes 1,5, MIM: 261600<li>R->L at 241: in PKU, MIM: 261600<li>L->F at 242: in PKU, MIM: 261600<li>R->Q at 243: in non-PKU HPA and PKU; haplotypes 4,7,9, MIM: 261600<li>P->L at 244: in PKU; haplotype 12, MIM: 261600<li>V->A at 245: in non-PKU HPA; haplotypes 3,7, MIM: 261600<li>V->E at 245: in PKU; haplotype 11, MIM: 261600<li>V->L at 245: in PKU, MIM: 261600<li>A->D at 246: in PKU, MIM: 261600<li>G->V at 247: in PKU; haplotype 4, MIM: 261600<li>L->P at 248: in PKU, MIM: 261600<li>L->F at 249: in PKU; haplotype 1, MIM: 261600<li>R->G at 252: in PKU; haplotype 7, MIM: 261600<li>R->Q at 252: in PKU; haplotype 1, MIM: 261600<li>R->W at 252: in PKU; haplotypes 1,6,7,8,42, 69; complete loss of activity: in dbSNP rsrs5030847, MIM: 261600<li>L->S at 255: in PKU; haplotype 36, MIM: 261600<li>L->V at 255: in PKU; haplotypes 18,21, MIM: 261600<li>G->C at 257: in PKU: in dbSNP rsrs5030848, MIM: 261600<li>A->T at 259: in PKU; haplotype 3, MIM: 261600<li>A->V at 259: in PKU; haplotypes 7,42: in dbSNP rsrs28934900, MIM: 261600<li>R->P at 261: in PKU, MIM: 261600<li>R->Q at 261: in PKU; mild; haplotypes 1,2,4,22, 24,28; dbSNP:rs5030849, MIM: 261600<li>F->L at 263: in PKU, MIM: 261600<li>H->L at 264: in PKU, MIM: 261600<li>C->G at 265: in PKU, MIM: 261600<li>I->L at 269: in non-PKU HPA, MIM: 261600<li>R->K at 270: in PKU, MIM: 261600<li>R->S at 270: in PKU; haplotype 1, MIM: 261600<li>H->Y at 271: in PKU, MIM: 261600<li>S->F at 273: in PKU; haplotype 7, MIM: 261600<li>K->E at 274, MIM: 261600<li>M->I at 276: in PKU, MIM: 261600<li>M->V at 276: in PKU; haplotype 4, MIM: 261600<li>Y->C at 277: in PKU, MIM: 261600<li>Y->D at 277: in PKU; haplotype 2: in dbSNP rsrs28934276, MIM: 261600<li>T->A at 278: in PKU, MIM: 261600<li>T->N at 278: in PKU, MIM: 261600<li>E->K at 280: in PKU; haplotypes 1,2,4,16,38; partial residual activity, MIM: 261600<li>P->L at 281: in PKU; haplotypes 1,4: in dbSNP rsrs5030851, MIM: 261600<li>D->N at 282: in PKU; haplotype 1, MIM: 261600<li>I->F at 283: in PKU; haplotype 21, MIM: 261600<li>I->N at 283: in PKU; severe, MIM: 261600<li>R->C at 297: in PKU; haplotype 4, MIM: 261600<li>R->H at 297: in PKU, MIM: 261600<li>F->C at 299: in PKU; haplotype 8, MIM: 261600<li>A->S at 300: in PKU; haplotype 1: in dbSNP rsrs5030853, MIM: 261600<li>A->V at 300: in PKU, MIM: 261600<li>S->P at 303: in PKU; haplotype 5, MIM: 261600<li>Q->R at 304: in PKU, MIM: 261600<li>I->V at 306: in non-PKU HPA; haplotype 4, MIM: 261600<li>A->D at 309: in PKU; haplotype 7, MIM: 261600<li>A->V at 309: in PKU, MIM: 261600<li>S->F at 310: in PKU; haplotype 7, MIM: 261600<li>L->P at 311: in PKU; haplotypes 1,7,10, MIM: 261600<li>P->H at 314: in PKU, MIM: 261600<li>I->T at 318: in PKU; partial loss of activity, MIM: 261600<li>A->G at 322: in PKU; haplotype 12, MIM: 261600<li>A->T at 322: in PKU; haplotype 1, MIM: 261600<li>Y->C at 325: in PKU, MIM: 261600<li>E->D at 330: in PKU, MIM: 261600<li>F->L at 331: in PKU; haplotype 1, MIM: 261600<li>L->F at 333: in PKU, MIM: 261600<li>C->S at 334: in PKU, MIM: 261600<li>G->V at 337: in PKU, MIM: 261600<li>D->Y at 338: in PKU; haplotype 4, MIM: 261600<li>K->R at 341: in PKU, MIM: 261600<li>K->T at 341: in PKU, MIM: 261600<li>A->T at 342: in PKU; haplotype 5, MIM: 261600<li>Y->C at 343: in PKU, MIM: 261600<li>G->R at 344: in PKU, MIM: 261600<li>G->V at 344: in PKU, MIM: 261600<li>A->S at 345: in PKU, MIM: 261600<li>A->T at 345: in PKU; haplotype 7, MIM: 261600<li>L->F at 347: in PKU, MIM: 261600<li>L->V at 348: in PKU; mild haplotype 9, MIM: 261600<li>S->L at 349: in PKU; severe, MIM: 261600<li>S->P at 349: in PKU; haplotypes 1,4, MIM: 261600<li>S->T at 350: in PKU; haplotype 2, MIM: 261600<li>C->G at 357: in PKU, MIM: 261600<li>P->T at 362: in PKU, MIM: 261600<li>Missing  at 364-368: in PKU, MIM: 261600<li>Missing  at 364: in PKU; haplotype 5, MIM: 261600<li>P->H at 366: in PKU, MIM: 261600<li>T->S at 372: in PKU, MIM: 261600<li>Y->C at 377: in PKU; haplotype 4, MIM: 261600<li>T->M at 380: in non-PKU HPA; haplotype 4, MIM: 261600<li>Y->C at 386: in PKU; common mutation, MIM: 261600<li>Y->H at 387: in PKU; haplotype 1, MIM: 261600<li>V->L at 388: in PKU, MIM: 261600<li>V->M at 388: in PKU; haplotypes 1,4, MIM: 261600<li>E->G at 390: in non-PKU HPA; haplotype 4: in dbSNP rsrs5030856, MIM: 261600<li>D->A at 394: in PKU, MIM: 261600<li>D->H at 394: in PKU, MIM: 261600<li>A->G at 395: in PKU, MIM: 261600<li>A->P at 395: in PKU; haplotype 1, MIM: 261600<li>Missing  at 399-400: in PKU; haplotype 7, MIM: 261600<li>A->V at 403: in non-PKU HPA and PKU; haplotype 43: in dbSNP rsrs5030857, MIM: 261600<li>P->S at 407: in PKU, MIM: 261600<li>R->Q at 408: in PKU; haplotypes 4,12: in dbSNP rsrs5030859, MIM: 261600<li>R->W at 408: in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation: in dbSNP rsrs5030858, MIM: 261600<li>F->S at 410: in PKU; mild, MIM: 261600<li>R->P at 413: in non-PKU HPA and PKU; haplotype 4: in dbSNP rsrs28934899, MIM: 261600<li>R->S at 413: in PKU; haplotype 1, MIM: 261600<li>Y->C at 414: in PKU; haplotype 4: in dbSNP rsrs5030860, MIM: 261600<li>D->N at 415: in non-PKU HPA; haplotype 1, MIM: 261600<li>T->P at 418: in PKU; haplotype 4, MIM: 261600<li>L->P at 430: in PKU, MIM: 261600<li>A->D at 447: in PKU, MIM: 261600</ul>			binding	GO:0005488			<li>O82030</li><li>Q9FEW2</li><li>Q9Y251</li><li>Q90YK5</li>	<li>Phenylketonuria (PKU) [MIM:261600]</li><li>Hyperphenylalaninemia (HPA) [MIM:261600]</li><li>Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]</li>	<li>rs5030857</li><li>rs5030856</li><li>rs5030859</li><li>rs5030858</li><li>rs5030849</li><li>rs5030848</li><li>rs5030847</li><li>rs5030845</li><li>rs28934276</li><li>rs28934899</li><li>rs28934900</li><li>rs5030841</li><li>rs5030860</li><li>rs5030842</li><li>rs5030843</li><li>rs5030844</li><li>rs5030853</li><li>rs5030851</li>	2
P00441	6647	<ul><li>A->S at 5: in ALS1, MIM: 105400<li>A->T at 5: in ALS1, MIM: 105400<li>A->V at 5: in ALS1; severe form; reduces structural stability and enzyme activity; increases tendency to form fibrillar aggegates, MIM: 105400<li>C->F at 7: in ALS1, MIM: 105400<li>V->E at 8: in ALS1, MIM: 105400<li>L->Q at 9: in ALS1, MIM: 105400<li>L->V at 9: in ALS1, MIM: 105400<li>G->R at 13: in ALS1, MIM: 105400<li>V->G at 15: in ALS1, MIM: 105400<li>V->M at 15: in ALS1, MIM: 105400<li>G->S at 17: in ALS1; sporadic young onset, MIM: 105400<li>F->C at 21: in ALS1, MIM: 105400<li>E->G at 22: in ALS1, MIM: 105400<li>E->K at 22: in ALS1, MIM: 105400<li>Q->L at 23: in ALS1, MIM: 105400<li>G->R at 38: in ALS1; mild form; ubiquitinated by RNF19A, MIM: 105400<li>L->R at 39: in ALS1, MIM: 105400<li>L->V at 39: in ALS1, MIM: 105400<li>G->D at 42: in ALS1, MIM: 105400<li>G->S at 42: in ALS1, MIM: 105400<li>H->R at 44: in ALS1; reduces structural stability and enzyme activity; increases tendency to form fibrillar aggegates, MIM: 105400<li>F->C at 46: in ALS1; slow progression, MIM: 105400<li>H->R at 47: in ALS1; "benign" form; 80% of wild-type activity; ubiquitinated by RNF19A, MIM: 105400<li>H->Q at 49: in ALS1, MIM: 105400<li>H->R at 49: in ALS1, MIM: 105400<li>E->K at 50: in ALS1, MIM: 105400<li>T->R at 55: in ALS1; reduces tendency to form fibrillar aggregates, MIM: 105400<li>N->S at 66: in ALS1, MIM: 105400<li>L->R at 68: in ALS1, MIM: 105400<li>G->S at 73: in ALS1, MIM: 105400<li>D->Y at 77: in ALS1, MIM: 105400<li>H->A at 81: in ALS1; sporadic form; interferes with zinc binding; requires 2 nucleotide substitutions, MIM: 105400<li>L->F at 85: in ALS1, MIM: 105400<li>L->V at 85: in ALS1, MIM: 105400<li>G->R at 86: in ALS1; ubiquitinated by RNF19A; interferes with zinc-binding, MIM: 105400<li>N->S at 87: in ALS1: in dbSNP rsrs11556620, MIM: 105400<li>V->A at 88: in ALS1, MIM: 105400<li>A->T at 90: in ALS1, MIM: 105400<li>A->V at 90: in ALS1, MIM: 105400<li>D->A at 91: in ALS1; does not seem to be linked with a decrease in activity, MIM: 105400<li>D->V at 91: in ALS1, MIM: 105400<li>G->A at 94: in ALS1; increases tendency to form fibrillar aggregates; ubiquitinated by RNF19A, MIM: 105400<li>G->C at 94: in ALS1, MIM: 105400<li>G->D at 94: in ALS1, MIM: 105400<li>G->R at 94: in ALS1; 30% of wild-type activity, MIM: 105400<li>G->V at 94: in ALS1, MIM: 105400<li>V->M at 98: in ALS1; increases tendency to form fibrillar aggregates, MIM: 105400<li>E->G at 101: in ALS1, MIM: 105400<li>E->K at 101: in ALS1, MIM: 105400<li>D->G at 102: in ALS1, MIM: 105400<li>D->N at 102: in ALS1, MIM: 105400<li>I->F at 105: in ALS1, MIM: 105400<li>S->L at 106: in ALS1, MIM: 105400<li>L->V at 107: in ALS1, MIM: 105400<li>G->V at 109: in ALS1, MIM: 105400<li>I->M at 113: in ALS1, MIM: 105400<li>I->T at 113: in ALS1, MIM: 105400<li>I->T at 114: in ALS1; destabilizes dimeric protein structure and increases tendency to form fibrillar aggregates, MIM: 105400<li>G->A at 115: in ALS1, MIM: 105400<li>R->G at 116: in ALS1, MIM: 105400<li>V->L at 119: in ALS1, MIM: 105400<li>V->VFLQ at 119: in ALS1, MIM: 105400<li>D->G at 125: in ALS1, MIM: 105400<li>D->V at 125: in ALS1, MIM: 105400<li>D->H at 126: in ALS1, MIM: 105400<li>L->S at 127: in ALS1, MIM: 105400<li>Missing  at 134: in ALS, MIM: 105400<li>S->N at 135: in ALS1; reduced metal binding; increases tendency to form fibrillar aggegates, MIM: 105400<li>N->K at 140: in ALS1, MIM: 105400<li>L->F at 145: in ALS1, MIM: 105400<li>L->S at 145: in ALS1, MIM: 105400<li>A->T at 146: in ALS1, MIM: 105400<li>C->R at 147: in ALS1, MIM: 105400<li>G->R at 148: in ALS1, MIM: 105400<li>V->G at 149: in ALS1, MIM: 105400<li>V->I at 149: in ALS1, MIM: 105400<li>I->T at 150: in ALS1, MIM: 105400<li>I->T at 152: in ALS1; seems to affect formation of homodimer, MIM: 105400</ul>			<li>zinc binding</li><li>metal binding</li>	<li>GO:0008270</li><li>GO:0046872</li>			<li>P37251</li><li>Q41768</li><li>P37252</li><li>P65162</li><li>Q57625</li><li>P65161</li><li>Q57725</li><li>P70389</li><li>Q7U5G1</li><li>P0A622</li><li>P0A623</li><li>P42463</li><li>Q55141</li><li>O19929</li><li>O85293</li><li>O85294</li><li>Q04524</li><li>O02833</li><li>O67703</li><li>P66947</li><li>P66946</li><li>O78451</li><li>Q9RQ65</li><li>Q5KPJ5</li><li>P17597</li><li>P57321</li><li>O27492</li><li>O33112</li><li>Q09129</li><li>O33113</li><li>Q59498</li><li>O08353</li><li>Q59499</li><li>Q04789</li><li>O78518</li><li>Q9TLY1</li><li>P69683</li><li>P69684</li><li>P35858</li><li>P35859</li><li>Q9XS79</li><li>P36620</li><li>P57320</li><li>P27868</li><li>P07342</li><li>P46590</li><li>Q89AP7</li><li>P27696</li><li>Q89AP8</li><li>Q6K2E8</li><li>Q02140</li><li>Q9MS98</li><li>P45260</li><li>O28555</li><li>P45261</li><li>P25605</li><li>Q6SSJ3</li><li>P51230</li><li>Q02137</li>	Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	rs11556620	2
P00450	1356	<ul><li>I->T at 63: retained in the ER due to impaired N-glycosylation; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease<li>R->C at 367: in dbSNP:rs34624984<li>P->L at 477: in dbSNP:rs35331711<li>D->E at 544: reduced ferroxidase activity; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease; dbSNP:rs701753<li>T->I at 551<li>R->H at 793<li>T->R at 841: in dbSNP rsrs56033670</ul>					ER	GO:0005783	<li>Q61147</li><li>P13635</li><li>P00450</li><li>Q9XT27</li>		<li>rs701753</li><li>rs35331711</li><li>rs34624984</li><li>rs56033670</li>	2
P00451	2157	<ul><li>S->R at 19: in HEMA, MIM: 306700<li>R->T at 22: in HEMA; severe, MIM: 306700<li>Y->C at 24: in HEMA, MIM: 306700<li>Y->C at 25: in HEMA; mild, MIM: 306700<li>L->P at 26: in HEMA; severe, MIM: 306700<li>L->R at 26: in HEMA; severe, MIM: 306700<li>E->V at 30: in HEMA; mild, MIM: 306700<li>W->G at 33: in HEMA; moderate, MIM: 306700<li>Y->C at 35: in HEMA; mild/severe, MIM: 306700<li>Y->H at 35: in HEMA; severe, MIM: 306700<li>G->C at 41: in HEMA; severe/moderate, MIM: 306700<li>R->C at 48: in HEMA; severe, MIM: 306700<li>R->K at 48: in HEMA, MIM: 306700<li>K->E at 67: in HEMA; severe, MIM: 306700<li>K->N at 67: in HEMA, MIM: 306700<li>L->P at 69: in HEMA; moderate-severe, MIM: 306700<li>E->K at 72: in HEMA; moderate, MIM: 306700<li>D->E at 75: in HEMA; moderate, MIM: 306700<li>D->V at 75: in dbSNP:rs1800288, MIM: 306700<li>D->Y at 75: in HEMA; moderate-severe, MIM: 306700<li>Missing  at 84-85: in HEMA; severe, MIM: 306700<li>Missing  at 85: in HEMA; moderate, MIM: 306700<li>G->D at 89: in HEMA; severe, MIM: 306700<li>G->V at 89: in HEMA; mild, MIM: 306700<li>G->A at 92: in HEMA, MIM: 306700<li>G->V at 92: in HEMA; mild: in dbSNP rsrs28935204, MIM: 306700<li>A->P at 97: in HEMA, MIM: 306700<li>E->K at 98: in HEMA; severe, MIM: 306700<li>V->D at 99: in HEMA; severe: in dbSNP rsrs28935205, MIM: 306700<li>D->G at 101: in HEMA; severe, MIM: 306700<li>D->H at 101: in HEMA; severe sporadic, MIM: 306700<li>D->V at 101: in HEMA, MIM: 306700<li>V->D at 104: in HEMA; mild: in dbSNP rsrs28935206, MIM: 306700<li>K->T at 108: in HEMA; mild: in dbSNP rsrs28935207, MIM: 306700<li>M->V at 110: in HEMA; moderate: in dbSNP rsrs28936083, MIM: 306700<li>A->T at 111: in HEMA; severe, MIM: 306700<li>A->V at 111: in HEMA; moderate, MIM: 306700<li>H->R at 113: in HEMA; mild, MIM: 306700<li>H->Y at 113: in HEMA, MIM: 306700<li>L->F at 117: in HEMA; mild, MIM: 306700<li>L->R at 117: in HEMA; severe: in dbSNP rsrs28935208, MIM: 306700<li>G->S at 121: in HEMA, MIM: 306700<li>E->V at 129: in HEMA; severe, MIM: 306700<li>G->R at 130: in HEMA; severe, MIM: 306700<li>E->D at 132: in HEMA; severe: in dbSNP rsrs28935209, MIM: 306700<li>Y->C at 133: in HEMA; mild: in dbSNP rsrs28935210, MIM: 306700<li>D->G at 135: in HEMA; severe: in dbSNP rsrs28935211, MIM: 306700<li>D->Y at 135: in HEMA; severe sporadic, MIM: 306700<li>T->A at 137: in HEMA; severe, MIM: 306700<li>T->I at 137: in HEMA; moderate, MIM: 306700<li>S->R at 138: in HEMA; mild, MIM: 306700<li>E->K at 141: in HEMA; severe familial, MIM: 306700<li>D->H at 145: in HEMA; moderate, MIM: 306700<li>V->D at 147: in HEMA; severe, MIM: 306700<li>Y->H at 155: in HEMA; moderate, MIM: 306700<li>V->A at 159: in HEMA; moderate, MIM: 306700<li>N->K at 163: in HEMA; moderate, MIM: 306700<li>G->D at 164: in HEMA; moderate, MIM: 306700<li>G->V at 164: in HEMA; mild: in dbSNP rsrs28935212, MIM: 306700<li>P->S at 165: in HEMA; severe: in dbSNP rsrs28935213, MIM: 306700<li>C->W at 172: in HEMA, MIM: 306700<li>S->P at 176: in HEMA, MIM: 306700<li>S->P at 179: in HEMA; moderate, MIM: 306700<li>V->E at 181: in HEMA; mild, MIM: 306700<li>V->M at 181: in HEMA; mild/moderate, MIM: 306700<li>K->T at 185: in HEMA; mild, MIM: 306700<li>D->G at 186: in HEMA; mild, MIM: 306700<li>D->Y at 186: in HEMA; severe, MIM: 306700<li>S->L at 189: in HEMA; moderate, MIM: 306700<li>G->R at 193: in HEMA; severe familial, MIM: 306700<li>C->G at 198: in HEMA; severe, MIM: 306700<li>S->N at 202: in HEMA; mild, MIM: 306700<li>S->R at 202: in HEMA; mild, MIM: 306700<li>F->V at 214: in HEMA, MIM: 306700<li>L->H at 217: in HEMA; moderate, MIM: 306700<li>A->D at 219: in HEMA, MIM: 306700<li>A->T at 219: in HEMA, MIM: 306700<li>V->G at 220: in HEMA; mild, MIM: 306700<li>D->V at 222: in HEMA; moderate, MIM: 306700<li>E->K at 223: in HEMA; severe, MIM: 306700<li>G->W at 224: in HEMA; moderate, MIM: 306700<li>T->I at 252: in HEMA; moderate, MIM: 306700<li>V->F at 253: in HEMA; severe, MIM: 306700<li>N->I at 254: in HEMA; severe, MIM: 306700<li>G->V at 255: in HEMA; severe, MIM: 306700<li>P->L at 262: in HEMA; moderate, MIM: 306700<li>G->S at 263: in HEMA, MIM: 306700<li>G->E at 266: in HEMA; severe, MIM: 306700<li>C->Y at 267: in HEMA; moderate, MIM: 306700<li>W->C at 274: in HEMA: in dbSNP rsrs34371500, MIM: 306700<li>H->L at 275: in HEMA; mild, MIM: 306700<li>G->R at 278: in HEMA; severe, MIM: 306700<li>E->K at 284: in HEMA; moderate, MIM: 306700<li>V->G at 285: in HEMA; mild, MIM: 306700<li>E->G at 291: in HEMA; mild, MIM: 306700<li>E->K at 291: in HEMA; mild, MIM: 306700<li>T->I at 294: in HEMA; moderate, MIM: 306700<li>F->L at 295: in HEMA; moderate, MIM: 306700<li>V->A at 297: in HEMA; mild, MIM: 306700<li>N->I at 299: in HEMA; mild: in dbSNP rsrs28935215, MIM: 306700<li>R->C at 301: in HEMA; severe/mild, MIM: 306700<li>R->H at 301: in HEMA; severe: in dbSNP rsrs28935216, MIM: 306700<li>R->L at 301: in HEMA; severe: in dbSNP rsrs28935216, MIM: 306700<li>Missing  at 302: in HEMA, MIM: 306700<li>A->E at 303: in HEMA; mild, MIM: 306700<li>A->P at 303: in HEMA; mild, MIM: 306700<li>I->S at 307: in HEMA; moderate, MIM: 306700<li>S->L at 308: in HEMA; moderate: in dbSNP rsrs28937268, MIM: 306700<li>F->S at 312: in HEMA; mild/moderate, MIM: 306700<li>T->A at 314: in HEMA; mild: in dbSNP rsrs28937269, MIM: 306700<li>T->I at 314: in HEMA; moderate, MIM: 306700<li>A->V at 315: in HEMA, MIM: 306700<li>Missing  at 320: in HEMA; severe, MIM: 306700<li>G->E at 323: in HEMA; severe, MIM: 306700<li>L->P at 326: in HEMA: in dbSNP rsrs28937270, MIM: 306700<li>L->P at 327: in HEMA; severe: in dbSNP rsrs28937270, MIM: 306700<li>L->V at 327: in HEMA; mild, MIM: 306700<li>C->F at 329: in HEMA, MIM: 306700<li>I->V at 331: in HEMA; mild, MIM: 306700<li>M->T at 339: in HEMA; moderate, MIM: 306700<li>E->K at 340: in HEMA, MIM: 306700<li>V->A at 345: in HEMA, MIM: 306700<li>V->L at 345: in HEMA; severe, MIM: 306700<li>C->R at 348: in HEMA; severe, MIM: 306700<li>C->S at 348: in HEMA; moderate, MIM: 306700<li>C->Y at 348: in HEMA; mild/severe, MIM: 306700<li>Y->C at 365: in HEMA; mild, MIM: 306700<li>R->C at 391: in HEMA; Okayama; moderate/severe; abolishes the normal cleavage by thrombin, MIM: 306700<li>R->H at 391: in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin: in dbSNP rsrs28935499, MIM: 306700<li>R->P at 391: in HEMA; severe; abolishes the normal cleavage by thrombin, MIM: 306700<li>S->L at 392: in HEMA; mild; abolishes normal cleavage by thrombin: in dbSNP rsrs28933668, MIM: 306700<li>S->P at 392: in HEMA; mild; dbSNP:rs28933669, MIM: 306700<li>W->G at 401: in HEMA, MIM: 306700<li>I->F at 405: in HEMA, MIM: 306700<li>I->S at 405: in HEMA; severe; dbSNP:rs28933670, MIM: 306700<li>E->G at 409: in HEMA; severe/moderate; dbSNP:rs28933671, MIM: 306700<li>W->G at 412: in HEMA, MIM: 306700<li>W->R at 412: in HEMA; severe, MIM: 306700<li>K->I at 427: in HEMA; mild, MIM: 306700<li>L->F at 431: in HEMA; moderate: in dbSNP rsrs28933672, MIM: 306700<li>L->S at 431: in HEMA; moderate, MIM: 306700<li>R->P at 437: in HEMA; severe, MIM: 306700<li>R->W at 437: in HEMA; mild, MIM: 306700<li>I->F at 438: in HEMA; not severe, MIM: 306700<li>G->D at 439: in HEMA; severe, MIM: 306700<li>G->S at 439: in HEMA; moderate, MIM: 306700<li>G->V at 439: in HEMA; severe, MIM: 306700<li>Y->C at 442: in HEMA, MIM: 306700<li>K->R at 444: in HEMA; severe: in dbSNP rsrs28937272, MIM: 306700<li>Y->D at 450: in HEMA; severe, MIM: 306700<li>Y->N at 450: in HEMA; mild/moderate; dbSNP:rs28937273, MIM: 306700<li>T->I at 454: in HEMA; mild, MIM: 306700<li>F->C at 455: in HEMA; mild-moderate/severe, MIM: 306700<li>G->E at 466: in HEMA; severe sporadic, MIM: 306700<li>P->L at 470: in HEMA; mild, MIM: 306700<li>P->R at 470: in HEMA; mild, MIM: 306700<li>P->T at 470: in HEMA; mild sporadic, MIM: 306700<li>G->E at 474: in HEMA, MIM: 306700<li>G->R at 474: in HEMA; severe, MIM: 306700<li>E->K at 475: in HEMA; moderate, MIM: 306700<li>G->V at 477: in HEMA; moderate, MIM: 306700<li>D->N at 478: in HEMA, MIM: 306700<li>T->R at 479: in HEMA, MIM: 306700<li>F->C at 484: in HEMA, MIM: 306700<li>A->G at 488: in HEMA; moderate, MIM: 306700<li>R->G at 490: in HEMA, MIM: 306700<li>Y->C at 492: in HEMA; moderate: in dbSNP rsrs28937275, MIM: 306700<li>Y->H at 492: in HEMA; mild: in dbSNP rsrs28937274, MIM: 306700<li>I->T at 494: in HEMA; mild: in dbSNP rsrs28936968, MIM: 306700<li>G->R at 498: in HEMA; severe/moderate: in dbSNP rsrs28936969, MIM: 306700<li>R->H at 503: in HEMA: in dbSNP rsrs35383156, MIM: 306700<li>G->S at 513: in HEMA; moderate, MIM: 306700<li>I->Y at 522: in HEMA; requires 2 nucleotide substitutions, MIM: 306700<li>K->E at 529: in HEMA; moderate, MIM: 306700<li>W->G at 532: in HEMA, MIM: 306700<li>P->T at 540: in HEMA, MIM: 306700<li>T->S at 541: in HEMA; mild, MIM: 306700<li>D->N at 544: in HEMA; moderate: in dbSNP rsrs28937276, MIM: 306700<li>R->W at 546: in HEMA; mild: in dbSNP rsrs28937277, MIM: 306700<li>R->C at 550: in HEMA; mild/moderate: in dbSNP rsrs28937278, MIM: 306700<li>R->G at 550: in HEMA; mild: in dbSNP rsrs28937278, MIM: 306700<li>R->H at 550: in HEMA; mild/moderate: in dbSNP rsrs28937279, MIM: 306700<li>S->P at 553: in HEMA; severe, MIM: 306700<li>S->C at 554: in HEMA; moderate, MIM: 306700<li>S->G at 554: in HEMA; mild: in dbSNP rsrs28937280, MIM: 306700<li>V->D at 556: in HEMA; moderate, MIM: 306700<li>R->T at 560: in HEMA; mild, MIM: 306700<li>D->G at 561: in HEMA; severe: in dbSNP rsrs28937281, MIM: 306700<li>D->H at 561: in HEMA, MIM: 306700<li>D->Y at 561: in HEMA; severe, MIM: 306700<li>I->T at 567: in HEMA; mild, MIM: 306700<li>S->F at 577: in HEMA; mild: in dbSNP rsrs28937282, MIM: 306700<li>V->A at 578: in HEMA; mild, MIM: 306700<li>D->A at 579: in HEMA; mild, MIM: 306700<li>D->H at 579: in HEMA; mild, MIM: 306700<li>N->S at 583: in HEMA; mild, MIM: 306700<li>Q->H at 584: in HEMA; mild, MIM: 306700<li>Q->K at 584: in HEMA; moderate, MIM: 306700<li>Q->R at 584: in HEMA, MIM: 306700<li>I->R at 585: in HEMA; moderate-severe, MIM: 306700<li>I->T at 585: in HEMA; severe/moderate, MIM: 306700<li>M->V at 586: in HEMA; mild, MIM: 306700<li>D->G at 588: in HEMA, MIM: 306700<li>D->Y at 588: in HEMA, MIM: 306700<li>L->Q at 594: in HEMA; mild, MIM: 306700<li>S->P at 596: in HEMA; severe, MIM: 306700<li>N->D at 601: in HEMA, MIM: 306700<li>N->K at 601: in HEMA, MIM: 306700<li>R->G at 602: in HEMA; mild familial, MIM: 306700<li>S->I at 603: in HEMA, MIM: 306700<li>S->R at 603: in HEMA; severe, MIM: 306700<li>W->C at 604: in HEMA; severe, MIM: 306700<li>Y->H at 605: in HEMA, MIM: 306700<li>Y->S at 605: in HEMA; severe, MIM: 306700<li>N->I at 609: in HEMA; moderate, MIM: 306700<li>R->C at 612: in HEMA; mild/moderate; secretion impaired, MIM: 306700<li>N->K at 631: in HEMA; severe, MIM: 306700<li>N->S at 631: in HEMA, MIM: 306700<li>M->I at 633: in HEMA; mild, MIM: 306700<li>S->N at 635: in HEMA; mild, MIM: 306700<li>N->D at 637: in HEMA; severe sporadic/moderate, MIM: 306700<li>N->S at 637: in HEMA; mild; secretion impaired, MIM: 306700<li>Y->C at 639: in HEMA; moderate, MIM: 306700<li>L->V at 644: in HEMA; mild, MIM: 306700<li>L->F at 650: in HEMA; mild, MIM: 306700<li>V->A at 653: in HEMA; mild, MIM: 306700<li>V->M at 653: in HEMA; severe, MIM: 306700<li>L->P at 659: in HEMA, MIM: 306700<li>A->V at 663: in HEMA; mild, MIM: 306700<li>Q->P at 664: in HEMA; moderate-severe, MIM: 306700<li>Missing  at 671: in HEMA; severe, MIM: 306700<li>F->L at 677: in HEMA; moderate, MIM: 306700<li>M->I at 681: in HEMA; mild, MIM: 306700<li>V->F at 682: in HEMA, MIM: 306700<li>Y->C at 683: in HEMA; severe, MIM: 306700<li>Y->N at 683: in HEMA; mild, MIM: 306700<li>T->R at 686: in HEMA, MIM: 306700<li>F->L at 698: in HEMA, MIM: 306700<li>M->T at 699: in HEMA; mild, MIM: 306700<li>M->V at 699: in HEMA; severe, MIM: 306700<li>M->I at 701: in HEMA; mild, MIM: 306700<li>G->V at 705: in HEMA; moderate, MIM: 306700<li>G->W at 710: in HEMA, MIM: 306700<li>N->I at 713: in HEMA; mild, MIM: 306700<li>R->L at 717: in HEMA; mild, MIM: 306700<li>R->W at 717: in HEMA; mild, MIM: 306700<li>G->D at 720: in HEMA; severe/moderate, MIM: 306700<li>G->S at 720: in HEMA, MIM: 306700<li>M->I at 721: in HEMA; severe, MIM: 306700<li>M->L at 721: in HEMA; mild, MIM: 306700<li>A->T at 723: in HEMA; moderate, MIM: 306700<li>L->Q at 725: in HEMA; severe, MIM: 306700<li>V->F at 727: in HEMA; severe, MIM: 306700<li>E->K at 739: in HEMA; mild; dbSNP:rs28937285, MIM: 306700<li>Y->C at 742: in HEMA; mild, MIM: 306700<li>R->G at 795: in dbSNP:rs2228152, MIM: 306700<li>P->R at 947: in HEMA, MIM: 306700<li>V->L at 1012: in HEMA, MIM: 306700<li>E->K at 1057: in HEMA; moderate; dbSNP:rs28933673, MIM: 306700<li>H->Y at 1066: in HEMA, MIM: 306700<li>D->E at 1260: in dbSNP:rs1800291, MIM: 306700<li>K->Q at 1289: in dbSNP:rs1800292, MIM: 306700<li>Q->K at 1336: in HEMA, MIM: 306700<li>N->K at 1460: in HEMA, MIM: 306700<li>L->P at 1481: in dbSNP:rs1800294, MIM: 306700<li>A->S at 1610: in HEMA, MIM: 306700<li>I->T at 1698: in HEMA; mild, MIM: 306700<li>Y->C at 1699: in HEMA; severe, MIM: 306700<li>Y->F at 1699: in HEMA; moderate; dbSNP:rs28935203, MIM: 306700<li>E->K at 1701: in HEMA; mild, MIM: 306700<li>Q->H at 1705: in HEMA; mild sporadic, MIM: 306700<li>R->C at 1708: in HEMA; East Hartford; severe/moderate/mild; abolishes thrombin cleavage at the light chain, MIM: 306700<li>R->H at 1708: in HEMA; mild; abolishes thrombin cleavage at the light chain; dbSNP:rs28937286, MIM: 306700<li>T->S at 1714: in HEMA; moderate, MIM: 306700<li>R->G at 1715: in HEMA; mild, MIM: 306700<li>E->K at 1723: in HEMA; severe, MIM: 306700<li>D->V at 1727: in HEMA; mild, MIM: 306700<li>Y->C at 1728: in HEMA; moderate, MIM: 306700<li>R->G at 1740: in HEMA; mild, MIM: 306700<li>K->Q at 1751: in HEMA, MIM: 306700<li>R->H at 1768: in HEMA, MIM: 306700<li>G->R at 1769: in HEMA; mild, MIM: 306700<li>L->P at 1771: in HEMA, MIM: 306700<li>L->F at 1775: in HEMA; mild: in dbSNP rsrs28937288, MIM: 306700<li>L->V at 1775: in HEMA; moderate: in dbSNP rsrs28937287, MIM: 306700<li>L->P at 1777: in HEMA; moderate, MIM: 306700<li>G->E at 1779: in HEMA; severe/moderate: in dbSNP rsrs28937289, MIM: 306700<li>G->R at 1779: in HEMA; severe, MIM: 306700<li>P->L at 1780: in HEMA; moderate, MIM: 306700<li>I->R at 1782: in HEMA; severe sporadic, MIM: 306700<li>D->H at 1788: in HEMA; mild, MIM: 306700<li>M->T at 1791: in HEMA; severe, MIM: 306700<li>A->P at 1798: in HEMA; severe, MIM: 306700<li>S->H at 1799: in HEMA; requires 2 nucleotide substitutions, MIM: 306700<li>R->C at 1800: in HEMA; moderate: in dbSNP rsrs28937291, MIM: 306700<li>R->G at 1800: in HEMA; mild: in dbSNP rsrs28937291, MIM: 306700<li>R->H at 1800: in HEMA; moderate/severe: in dbSNP rsrs28937290, MIM: 306700<li>P->A at 1801: in HEMA; mild, MIM: 306700<li>Y->C at 1802: in HEMA; moderate, MIM: 306700<li>S->Y at 1803: in HEMA; severe: in dbSNP rsrs28937292, MIM: 306700<li>F->S at 1804: in HEMA; severe, MIM: 306700<li>L->F at 1808: in HEMA; mild: in dbSNP rsrs28937293, MIM: 306700<li>M->I at 1842: in HEMA; moderate; dbSNP:rs28933674, MIM: 306700<li>P->S at 1844: in HEMA; mild; dbSNP:rs28933675, MIM: 306700<li>T->P at 1845: in HEMA; mild; dbSNP:rs28933676, MIM: 306700<li>E->G at 1848: in HEMA; mild, MIM: 306700<li>A->T at 1853: in HEMA; moderate/severe, MIM: 306700<li>A->V at 1853: in HEMA; mild; dbSNP:rs28933677, MIM: 306700<li>S->C at 1858: in HEMA; moderate, MIM: 306700<li>K->E at 1864: in HEMA, MIM: 306700<li>D->N at 1865: in HEMA; severe: in dbSNP rsrs28933678, MIM: 306700<li>D->Y at 1865: in HEMA; severe: in dbSNP rsrs28933678, MIM: 306700<li>H->P at 1867: in HEMA; mild, MIM: 306700<li>H->R at 1867: in HEMA; moderate; dbSNP:rs28933679, MIM: 306700<li>G->D at 1869: in HEMA; severe, MIM: 306700<li>G->V at 1869: in HEMA; severe, MIM: 306700<li>G->E at 1872: in HEMA; severe sporadic, MIM: 306700<li>P->R at 1873: in HEMA; severe; dbSNP:rs28933680, MIM: 306700<li>L->P at 1875: in HEMA, MIM: 306700<li>V->L at 1876: in HEMA; mild, MIM: 306700<li>C->R at 1877: in HEMA, MIM: 306700<li>L->P at 1882: in HEMA, MIM: 306700<li>R->I at 1888: in HEMA; severe, MIM: 306700<li>E->G at 1894: in HEMA; moderate, MIM: 306700<li>I->F at 1901: in HEMA; mild, MIM: 306700<li>E->D at 1904: in HEMA, MIM: 306700<li>E->K at 1904: in HEMA; severe; dbSNP:rs28933681, MIM: 306700<li>S->C at 1907: in HEMA; moderate, MIM: 306700<li>S->R at 1907: in HEMA; severe, MIM: 306700<li>W->L at 1908: in HEMA; mild, MIM: 306700<li>Y->C at 1909: in HEMA; moderate, MIM: 306700<li>A->T at 1939: in HEMA; severe, MIM: 306700<li>A->V at 1939: in HEMA; second mutation; could be a polymorphism, MIM: 306700<li>N->D at 1941: in HEMA; severe/moderate, MIM: 306700<li>N->S at 1941: in HEMA; severe/moderate; dbSNP:rs28933682, MIM: 306700<li>G->A at 1942: in HEMA; moderate, MIM: 306700<li>M->V at 1945: in HEMA; moderate, MIM: 306700<li>L->F at 1951: in HEMA; mild, MIM: 306700<li>R->L at 1960: in HEMA; moderate: in dbSNP rsrs28937294, MIM: 306700<li>R->Q at 1960: in HEMA; mild/moderate; dbSNP:rs28937294, MIM: 306700<li>L->P at 1963: in HEMA; severe, MIM: 306700<li>S->I at 1965: in HEMA, MIM: 306700<li>M->I at 1966: in HEMA; mild, MIM: 306700<li>M->V at 1966: in HEMA; mild, MIM: 306700<li>G->D at 1967: in HEMA; moderate; dbSNP:rs28937295, MIM: 306700<li>S->R at 1968: in HEMA; mild, MIM: 306700<li>N->T at 1971: in HEMA, MIM: 306700<li>H->L at 1973: in HEMA; mild, MIM: 306700<li>G->V at 1979: in HEMA; moderate: in dbSNP rsrs28937296, MIM: 306700<li>H->P at 1980: in HEMA, MIM: 306700<li>H->Y at 1980: in HEMA; mild: in dbSNP rsrs28937297, MIM: 306700<li>F->I at 1982: in HEMA; mild, MIM: 306700<li>R->Q at 1985: in HEMA; mild, MIM: 306700<li>L->P at 1994: in HEMA; moderate, MIM: 306700<li>Y->C at 1998: in HEMA; mild, MIM: 306700<li>G->A at 2000: in HEMA; moderate-severe, MIM: 306700<li>T->R at 2004: in HEMA; sporadic, MIM: 306700<li>M->I at 2007: in HEMA; mild, MIM: 306700<li>W->C at 2015: in HEMA; moderate, MIM: 306700<li>R->P at 2016: in HEMA; severe familial, MIM: 306700<li>R->W at 2016: in HEMA; severe/moderate/mild: in dbSNP rsrs28937298, MIM: 306700<li>E->G at 2018: in HEMA; moderate, MIM: 306700<li>G->D at 2022: in HEMA; severe, MIM: 306700<li>G->R at 2028: in HEMA, MIM: 306700<li>S->N at 2030: in HEMA; mild, MIM: 306700<li>V->A at 2035: in HEMA, MIM: 306700<li>Y->C at 2036: in HEMA; moderate, MIM: 306700<li>N->S at 2038: in HEMA; mild/moderate, MIM: 306700<li>C->Y at 2040: in HEMA, MIM: 306700<li>G->E at 2045: in HEMA; mild, MIM: 306700<li>G->V at 2045: in HEMA; severe sporadic, MIM: 306700<li>I->S at 2051: in HEMA; severe, MIM: 306700<li>I->N at 2056: in HEMA; severe, MIM: 306700<li>A->P at 2058: in HEMA; moderate, MIM: 306700<li>W->R at 2065: in HEMA; moderate: in dbSNP rsrs28937299, MIM: 306700<li>P->L at 2067: in HEMA; severe sporadic, MIM: 306700<li>A->V at 2070: in HEMA; mild, MIM: 306700<li>S->N at 2082: in HEMA; severe, MIM: 306700<li>S->F at 2088: in HEMA; severe: in dbSNP rsrs28937300, MIM: 306700<li>D->G at 2093: in HEMA; mild: in dbSNP rsrs28937301, MIM: 306700<li>D->Y at 2093: in HEMA; severe familial, MIM: 306700<li>T->N at 2105: in HEMA; moderate, MIM: 306700<li>Q->E at 2106: in HEMA; mild, MIM: 306700<li>Q->R at 2106: in HEMA; mild, MIM: 306700<li>G->S at 2107: in HEMA; severe, MIM: 306700<li>R->C at 2109: in HEMA; mild, MIM: 306700<li>I->F at 2117: in HEMA, MIM: 306700<li>I->S at 2117: in HEMA; mild-moderate; affinity for VWF reduced 8-fold, MIM: 306700<li>Q->R at 2119: in HEMA; moderate, MIM: 306700<li>F->C at 2120: in HEMA, MIM: 306700<li>F->L at 2120: in HEMA; mild, MIM: 306700<li>Y->C at 2124: in HEMA; mild, MIM: 306700<li>R->P at 2135: in HEMA; severe, MIM: 306700<li>S->Y at 2138: in HEMA; moderate; affinity for VWF reduced 80-fold, MIM: 306700<li>T->N at 2141: in HEMA; severe, MIM: 306700<li>F->C at 2145: in HEMA; mild, MIM: 306700<li>N->S at 2148: in HEMA; moderate, MIM: 306700<li>N->D at 2157: in HEMA; mild, MIM: 306700<li>P->L at 2162: in HEMA; severe, MIM: 306700<li>R->C at 2169: in HEMA; mild, MIM: 306700<li>R->H at 2169: in HEMA; severe/mild; affinity for VWF reducced 3-fold, MIM: 306700<li>P->Q at 2172: in HEMA; moderate, MIM: 306700<li>P->R at 2172: in HEMA; severe, MIM: 306700<li>T->A at 2173: in HEMA; mild, MIM: 306700<li>T->I at 2173: in HEMA; mild, MIM: 306700<li>H->D at 2174: in HEMA, MIM: 306700<li>R->C at 2178: in HEMA; mild/moderate: in dbSNP rsrs28936970, MIM: 306700<li>R->H at 2178: in HEMA; mild: in dbSNP rsrs28937302, MIM: 306700<li>R->L at 2178: in HEMA; mild: in dbSNP rsrs28937302, MIM: 306700<li>R->C at 2182: in HEMA; severe/moderate: in dbSNP rsrs28937304, MIM: 306700<li>R->H at 2182: in HEMA; severe/moderate: in dbSNP rsrs28937303, MIM: 306700<li>R->P at 2182: in HEMA; moderate/severe, MIM: 306700<li>M->R at 2183: in HEMA; moderate, MIM: 306700<li>M->V at 2183: in HEMA; mild, MIM: 306700<li>L->S at 2185: in HEMA; severe, MIM: 306700<li>L->W at 2185: in HEMA, MIM: 306700<li>S->I at 2192: in HEMA; mild, MIM: 306700<li>C->G at 2193: in HEMA, MIM: 306700<li>P->R at 2196: in HEMA, MIM: 306700<li>G->V at 2198: in HEMA; severe sporadic, MIM: 306700<li>E->D at 2200: in HEMA, MIM: 306700<li>I->T at 2204: in HEMA; mild, MIM: 306700<li>I->N at 2209: in HEMA; moderate, MIM: 306700<li>A->P at 2211: in HEMA; moderate: in dbSNP rsrs28937305, MIM: 306700<li>A->P at 2220: in HEMA; mild, MIM: 306700<li>Missing  at 2223: in HEMA; severe/moderate, MIM: 306700<li>P->L at 2224: in HEMA, MIM: 306700<li>Missing  at 2224: in HEMA; moderate, MIM: 306700<li>R->G at 2228: in HEMA; severe: in dbSNP rsrs28937306, MIM: 306700<li>R->L at 2228: in HEMA; moderate: in dbSNP rsrs28935201, MIM: 306700<li>R->P at 2228: in HEMA; moderate-severe, MIM: 306700<li>R->Q at 2228: in HEMA; severe/moderate: in dbSNP rsrs28935201, MIM: 306700<li>L->F at 2229: in HEMA, MIM: 306700<li>V->M at 2242, MIM: 306700<li>W->C at 2248: in HEMA; moderate: in dbSNP rsrs28937307, MIM: 306700<li>W->S at 2248: in HEMA; moderate, MIM: 306700<li>V->A at 2251: in HEMA; mild, MIM: 306700<li>V->E at 2251: in HEMA, MIM: 306700<li>M->V at 2257: in HEMA; moderate; could be a polymorphism; dbSNP:rs1800297, MIM: 306700<li>V->VQ at 2262: in HEMA; moderate, MIM: 306700<li>T->A at 2264: in HEMA, MIM: 306700<li>Q->R at 2265: in HEMA; moderate: in dbSNP rsrs28937308, MIM: 306700<li>F->C at 2279: in HEMA; severe sporadic, MIM: 306700<li>F->I at 2279: in HEMA, MIM: 306700<li>I->T at 2281: in HEMA; severe, MIM: 306700<li>W->L at 2290: in HEMA, MIM: 306700<li>G->V at 2304: in HEMA, MIM: 306700<li>D->A at 2307: in HEMA; moderate/mild, MIM: 306700<li>P->L at 2319: in HEMA; mild/severe, MIM: 306700<li>P->S at 2319: in HEMA; mild, MIM: 306700<li>R->C at 2323: in HEMA; severe/moderate; may cause reduced phospholipid binding, MIM: 306700<li>R->G at 2323: in HEMA; moderate, MIM: 306700<li>R->H at 2323: in HEMA; mild; may cause reduced phospholipid binding, MIM: 306700<li>R->L at 2323: in HEMA; mild, MIM: 306700<li>R->G at 2326: in HEMA, MIM: 306700<li>R->L at 2326: in HEMA; severe/moderate; may cause reduced phospholipid binding, MIM: 306700<li>R->P at 2326: in HEMA; severe sporadic, MIM: 306700<li>R->Q at 2326: in HEMA; moderate/mild; may cause reduced phospholipid binding, MIM: 306700<li>Q->P at 2330: in HEMA; severe, MIM: 306700<li>W->R at 2332: in HEMA; severe, MIM: 306700<li>R->T at 2339: in HEMA; moderate, MIM: 306700<li>G->C at 2344: in HEMA; moderate, MIM: 306700<li>G->S at 2344: in HEMA, MIM: 306700<li>C->S at 2345: in HEMA, MIM: 306700<li>C->Y at 2345: in HEMA, MIM: 306700</ul>	secretion	GO:0046903	phospholipid binding	GO:0005543			<li>P80012</li><li>Q28833</li><li>P84122</li><li>P04275</li><li>P42804</li><li>Q8CIZ8</li><li>Q28295</li>	Hemophilia A (HEMA) [MIM:306700]	<li>rs28935207</li><li>rs28935206</li><li>rs28935209</li><li>rs28935208</li><li>rs28935203</li><li>rs28935205</li><li>rs28935204</li><li>rs28933671</li><li>rs28933672</li><li>rs28933670</li><li>rs28936969</li><li>rs28936968</li><li>rs28933669</li><li>rs28933668</li><li>rs1800297</li><li>rs28936970</li><li>rs1800294</li><li>rs28935210</li><li>rs28935211</li><li>rs28935212</li><li>rs1800292</li><li>rs1800291</li><li>rs28935216</li><li>rs28935215</li><li>rs28935213</li><li>rs28933680</li><li>rs28933681</li><li>rs28933682</li><li>rs28937294</li><li>rs28933678</li><li>rs28933677</li><li>rs28937293</li><li>rs28937292</li><li>rs28933679</li><li>rs28937291</li><li>rs28933674</li><li>rs28937290</li><li>rs28937300</li><li>rs1800288</li><li>rs28933673</li><li>rs28937301</li><li>rs28933676</li><li>rs35383156</li><li>rs28937302</li><li>rs28933675</li><li>rs28937299</li><li>rs28937298</li><li>rs28937297</li><li>rs28937296</li><li>rs34371500</li><li>rs28937295</li><li>rs28935499</li><li>rs28937307</li><li>rs28937308</li><li>rs28937303</li><li>rs28937281</li><li>rs28937304</li><li>rs28937280</li><li>rs28937305</li><li>rs28937306</li><li>rs28937282</li><li>rs28937285</li><li>rs28937287</li><li>rs28937289</li><li>rs28937288</li><li>rs28936083</li><li>rs28937268</li><li>rs28937269</li><li>rs2228152</li><li>rs28935201</li><li>rs28937272</li><li>rs28937270</li><li>rs28937276</li><li>rs28937275</li><li>rs28937274</li><li>rs28937273</li><li>rs28937279</li><li>rs28937278</li><li>rs28937277</li>	2
P00480	5009	<ul><li>R->Q at 26: in OTCD, MIM: 311250<li>G->C at 39: in OTCD; late onset, MIM: 311250<li>R->C at 40: in OTCD; late onset, MIM: 311250<li>R->H at 40: in OTCD; late onset, MIM: 311250<li>L->F at 43, MIM: 311250<li>T->I at 44: in OTCD, MIM: 311250<li>L->P at 45: in OTCD, MIM: 311250<li>L->V at 45: in OTCD, MIM: 311250<li>K->R at 46: in dbSNP:rs1800321, MIM: 311250<li>N->I at 47: in OTCD; neonatal, MIM: 311250<li>G->R at 50: in OTCD; late onset, MIM: 311250<li>Y->D at 55: in OTCD; late onset, MIM: 311250<li>M->T at 56: in OTCD; late onset, MIM: 311250<li>S->L at 60: in OTCD, MIM: 311250<li>L->P at 63: in OTCD; late onset, MIM: 311250<li>G->E at 79: in OTCD, MIM: 311250<li>Missing  at 82: in OTCD, MIM: 311250<li>G->D at 83: in OTCD, MIM: 311250<li>G->R at 83: in OTCD; neonatal, MIM: 311250<li>E->K at 87: in OTCD, MIM: 311250<li>K->N at 88: in OTCD; late onset, MIM: 311250<li>S->R at 90: in OTCD, MIM: 311250<li>R->Q at 92: in OTCD, MIM: 311250<li>T->A at 93: in OTCD; late onset, MIM: 311250<li>R->T at 94: in OTCD, MIM: 311250<li>G->D at 100: in OTCD; late onset, MIM: 311250<li>F->L at 101, MIM: 311250<li>A->E at 102: in OTCD, MIM: 311250<li>L->P at 111: in dbSNP:rs1800324, MIM: 311250<li>H->L at 117: in OTCD, MIM: 311250<li>H->R at 117: in OTCD; late onset, MIM: 311250<li>T->M at 125: in OTCD; neonatal, MIM: 311250<li>D->G at 126: in OTCD; 0.9% of wild-type activity; early onset, MIM: 311250<li>R->H at 129: in OTCD; 2.1% of wild-type activity; early onset, MIM: 311250<li>L->S at 139: in OTCD, MIM: 311250<li>A->P at 140: in OTCD; late onset, MIM: 311250<li>R->P at 141: in OTCD, MIM: 311250<li>R->Q at 141: in OTCD; activity is 100-fold lower; most common point mutation, MIM: 311250<li>L->F at 148: in OTCD, MIM: 311250<li>I->T at 159: in OTCD, MIM: 311250<li>I->S at 160: in OTCD, MIM: 311250<li>N->S at 161: in OTCD, MIM: 311250<li>G->R at 162: in OTCD, MIM: 311250<li>H->Q at 168: in OTCD; late onset, MIM: 311250<li>H->R at 168: in OTCD; late onset, MIM: 311250<li>I->F at 172: in OTCD, MIM: 311250<li>I->M at 172: in OTCD; no activity; early onset, MIM: 311250<li>A->P at 174: in OTCD, MIM: 311250<li>D->V at 175: in OTCD, MIM: 311250<li>Y->C at 176: in OTCD; late onset, MIM: 311250<li>Missing  at 178-179: in OTCD; neonatal, MIM: 311250<li>T->M at 178: in OTCD; neonatal, MIM: 311250<li>Q->H at 180: in OTCD, MIM: 311250<li>E->G at 181: in OTCD; neonatal, MIM: 311250<li>H->L at 182: in OTCD, MIM: 311250<li>Y->C at 183: in OTCD, MIM: 311250<li>Y->D at 183: in OTCD; late onset, MIM: 311250<li>G->R at 188: in OTCD; neonatal, MIM: 311250<li>G->V at 188: in OTCD, MIM: 311250<li>L->F at 191: in OTCD, MIM: 311250<li>S->R at 192: in OTCD; neonatal, MIM: 311250<li>G->R at 195: in OTCD; no activity, MIM: 311250<li>D->V at 196: in OTCD; neonatal; 3.7% activity, MIM: 311250<li>D->Y at 196: in OTCD; neonatal, MIM: 311250<li>G->E at 197: in OTCD, MIM: 311250<li>G->R at 197: in OTCD, MIM: 311250<li>N->K at 198: in OTCD, MIM: 311250<li>L->P at 201: in OTCD; neonatal, MIM: 311250<li>H->Y at 202: in OTCD, MIM: 311250<li>S->C at 203: in OTCD, MIM: 311250<li>M->I at 206: in OTCD, MIM: 311250<li>M->R at 206: in OTCD; neonatal, MIM: 311250<li>S->R at 207: in OTCD; neonatal, MIM: 311250<li>A->T at 208: in OTCD; late onset, MIM: 311250<li>A->V at 209: in OTCD; neonatal, MIM: 311250<li>M->K at 213: in OTCD; late onset, MIM: 311250<li>H->Y at 214: in OTCD; neonatal, MIM: 311250<li>Q->E at 216: in OTCD, MIM: 311250<li>P->A at 220: in OTCD; late onset, MIM: 311250<li>P->L at 225: in OTCD, MIM: 311250<li>P->R at 225: in OTCD; neonatal, MIM: 311250<li>P->T at 225: in OTCD; late onset, MIM: 311250<li>T->I at 242: in OTCD; late onset, MIM: 311250<li>L->Q at 244: in OTCD; late onset, MIM: 311250<li>T->K at 247: in OTCD; neonatal/late onset, MIM: 311250<li>H->P at 255: in OTCD, MIM: 311250<li>T->K at 262: in OTCD; mild, MIM: 311250<li>D->G at 263: in OTCD, MIM: 311250<li>D->N at 263: in OTCD, MIM: 311250<li>T->A at 264: in OTCD; late onset 8.9% activity, MIM: 311250<li>T->I at 264: in OTCD; late onset, MIM: 311250<li>W->L at 265: in OTCD; mild, MIM: 311250<li>S->R at 267: in OTCD, MIM: 311250<li>M->T at 268: in OTCD; late onset, MIM: 311250<li>G->E at 269: in OTCD; neonatal, MIM: 311250<li>Q->R at 270: in about 5% of population; dbSNP:rs1800328, MIM: 311250<li>Missing  at 272: in OTCD; late onset, MIM: 311250<li>R->Q at 277: in OTCD; late onset, MIM: 311250<li>R->W at 277: in OTCD; late onset, MIM: 311250<li>L->F at 301: in OTCD, MIM: 311250<li>H->L at 302: in OTCD; female; late onset, MIM: 311250<li>H->Q at 302: in OTCD; late onset, MIM: 311250<li>H->Y at 302: in OTCD; neonatal, MIM: 311250<li>C->R at 303: in OTCD; neonatal, MIM: 311250<li>C->Y at 303: in OTCD, MIM: 311250<li>L->F at 304: in OTCD, MIM: 311250<li>P->H at 305: in OTCD, MIM: 311250<li>Missing  at 309: in OTCD; late onset, MIM: 311250<li>R->L at 320: in OTCD, MIM: 311250<li>E->K at 326: in OTCD, MIM: 311250<li>R->G at 330: in OTCD, MIM: 311250<li>T->A at 333, MIM: 311250<li>A->S at 336: in OTCD; late onset, MIM: 311250<li>V->L at 337: in OTCD; late onset, MIM: 311250<li>V->L at 339: in OTCD; neonatal, MIM: 311250<li>S->P at 340: in OTCD; late onset, MIM: 311250<li>L->P at 341: in OTCD, MIM: 311250<li>T->K at 343: in OTCD; late onset, MIM: 311250<li>Y->C at 345: in OTCD; neonatal, MIM: 311250<li>Y->D at 345: in OTCD, MIM: 311250<li>F->C at 354: in OTCD; late onset, MIM: 311250</ul>								Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	<li>rs1800328</li><li>rs1800324</li><li>rs1800321</li>	2
P00488	2162	<ul><li>V->L at 35: higher specific activity; dbSNP:rs5985<li>V->I at 40: in dbSNP rsrs3024472<li>Y->F at 205: in dbSNP rsrs3024477<li>T->I at 551: in dbSNP:rs5984<li>P->L at 565: in allele F13A*1A, allele F13A*2A and allele F13*: in dbSNP rsrs5982<li>L->Q at 589: in dbSNP:rs5983<li>V->I at 651: in allele F13A*2A and allele F13A*2B; dbSNP:rs5987<li>Q->E at 652: in allele F13A*1A and allele F13A*1B; dbSNP:rs5988<li>R->H at 682: in F13A deficiency, MIM: 134570</ul>							<li>P12260</li><li>Q00320</li><li>P00488</li>	F13A deficiency [MIM:134570]	<li>rs5982</li><li>rs3024477</li><li>rs5983</li><li>rs5984</li><li>rs5985</li><li>rs5987</li><li>rs5988</li><li>rs3024472</li>	2
P00491	4860	<ul><li>G->S at 51: in dbSNP:rs1049564<li>E->K at 89: in NP deficiency, MIM: 164050<li>D->G at 128: in NP deficiency, MIM: 164050<li>A->P at 174: in NP deficiency, MIM: 164050<li>Y->C at 192: in NP deficiency, MIM: 164050<li>R->P at 234: in NP deficiency, MIM: 164050</ul>								Nucleoside phosphorylase deficiency (NP deficiency) [MIM:164050]	rs1049564	2
P00492	3251	<ul><li>G->D at 7: in gout; Gravesend, MIM: 300323<li>V->G at 8: in LNS; HB, MIM: 300322<li>G->D at 16: in LNS; FG, MIM: 300322<li>G->S at 16: in gout; Urangan, MIM: 300323<li>D->V at 20: in gout; Mashad, MIM: 300323<li>C->W at 23: in gout JS, MIM: 300323<li>Missing  at 28: in LNS, MIM: 300323<li>L->P at 41: in LNS; Detroit, MIM: 300322<li>I->F at 42: in LNS; Isar, MIM: 300322<li>I->T at 42: in LNS; Heapey, MIM: 300322<li>MD->RN at 43-44: in LNS; Salamanca, MIM: 300322<li>R->K at 45: in LNS; RJK 2163, MIM: 300322<li>R->H at 48: in gout; AD and DD, MIM: 300323<li>A->P at 50: in LNS; LW, MIM: 300322<li>A->V at 50: in LNS; 1265, MIM: 300322<li>R->G at 51: in gout; Toronto, MIM: 300323<li>R->P at 51: in LNS; Banbury, MIM: 300322<li>D->G at 52: in Edinburgh, MIM: 300322<li>V->A at 53: in gout; MG, MIM: 300323<li>V->M at 53: in gout; TE, MIM: 300323<li>M->L at 54: in LNS; Japan-1, MIM: 300322<li>M->T at 57: in LNS; Montreal, MIM: 300322<li>G->R at 58: in gout; Toowong, MIM: 300323<li>H->R at 61: enzyme activity 37% of normal; asymptomatic, MIM: 300323<li>G->E at 70: in LNS; New Haven/1510, MIM: 300322<li>G->R at 71: in LNS; Yale, MIM: 300322<li>F->L at 74: in LNS; Flint/RJK 892/DW/Perth/1522, MIM: 300322<li>L->V at 78: in gout; Swan, MIM: 300323<li>D->V at 80: in gout; Arlington, MIM: 300323<li>S->R at 104: in gout; Munich, MIM: 300323<li>S->L at 110: in gout; London, MIM: 300323<li>V->D at 130: in LNS; Midland/RJK 896, MIM: 300322<li>L->S at 131: in LNS; RJK 1784, MIM: 300322<li>I->M at 132: in gout; Ann-Arbor, MIM: 300323<li>I->T at 132: in LNS; Runcorn, MIM: 300322<li>D->G at 135: in gout; Yeronga, MIM: 300323<li>M->K at 143: in LNS; RJK 1210, MIM: 300322<li>M->MA at 143: in LNS; RW, MIM: 300322<li>A->S at 161: in gout; Milwaukee/RJK 949, MIM: 300323<li>S->R at 162: in LNS; Farnham, MIM: 300322<li>T->I at 168: in gout; Brisbane, MIM: 300323<li>P->L at 176: in LNS; Marlow, MIM: 300322<li>D->V at 177: in LNS; Roanne, MIM: 300322<li>D->Y at 177: in LNS; RJK 2185, MIM: 300322<li>VG->GR at 179-180: in gout; Japan-2, MIM: 300322<li>Missing  at 179: in LNS; Michigan, MIM: 300322<li>I->T at 183: in gout; JF, MIM: 300323<li>V->A at 188: in Japan, MIM: 300323<li>D->E at 194: in gout; Moose-Jaw; results in cooperativity and decreased substrate affinities, MIM: 300323<li>D->N at 194: in LNS; Kinston/RJK 2188, MIM: 300322<li>Y->C at 195: in gout; Dirranbandi, MIM: 300323<li>F->V at 199: in LNS; New Briton/RJK 950, MIM: 300322<li>D->G at 201: in gout; Ashville, MIM: 300323<li>D->N at 201: in gout; RB, MIM: 300323<li>D->Y at 201: in LNS; GM, MIM: 300322<li>H->D at 204: in LNS; RJK 1874, MIM: 300322<li>H->R at 204: in LNS; 779, MIM: 300322<li>C->Y at 206: in LNS; Reading/RJK 1727, MIM: 300322</ul>								<li>Gout [MIM:300323]</li><li>Lesch-Nyhan syndrome (LNS) [MIM:300322]</li>		2
P00505	2806	<ul><li>G->S at 188: in dbSNP:rs11076256<li>G->V at 346: in dbSNP:rs30842<li>V->A at 428: in dbSNP:rs17849335</ul>									<li>rs17849335</li><li>rs11076256</li><li>rs30842</li>	2
P00519	25	<ul><li>R->G at 47: in a lung large cell carcinoma sample; somatic mutation<li>L->P at 140: in dbSNP:rs1064152<li>R->K at 166: in a melanoma sample; somatic mutation<li>K->R at 247: in dbSNP:rs34549764<li>G->V at 706: in dbSNP rsrs34634745<li>P->L at 810: in dbSNP rsrs2229071<li>T->P at 852<li>P->S at 900: in dbSNP rsrs35266696<li>S->P at 968: in dbSNP:rs1064165<li>S->L at 972: in dbSNP:rs2229067</ul>									<li>rs1064152</li><li>rs34634745</li><li>rs2229071</li><li>rs35266696</li><li>rs2229067</li><li>rs34549764</li><li>rs1064165</li>	2
P00533	1956	<ul><li>R->Q at 98: in dbSNP:rs17289589<li>P->R at 266: in dbSNP:rs17336639<li>R->K at 521: in dbSNP:rs2227983<li>V->I at 674: in dbSNP:rs17337079<li>E->A at 709: in lung cancer, MIM: 211980<li>E->K at 709: in lung cancer, MIM: 211980<li>G->A at 719: in lung cancer, MIM: 211980<li>G->C at 719: in lung cancer; dbSNP:rs28929495, MIM: 211980<li>G->D at 719: in lung cancer, MIM: 211980<li>G->S at 719: in lung cancer; somatic mutation, MIM: 211980<li>G->S at 724: in lung cancer, MIM: 211980<li>E->K at 734: in lung cancer, MIM: 211980<li>Missing  at 746-750: in lung cancer, MIM: 211980<li>Missing  at 746: in lung cancer, MIM: 211980<li>Missing  at 747-749: in lung cancer, MIM: 211980<li>L->F at 747: in lung cancer, MIM: 211980<li>R->P at 748: in lung cancer, MIM: 211980<li>Missing  at 752-759: in lung cancer, MIM: 211980<li>Q->R at 787: in lung cancer, MIM: 211980<li>T->M at 790: in lung cancer, MIM: 211980<li>L->V at 833: in lung cancer, MIM: 211980<li>V->L at 834: in lung cancer, MIM: 211980<li>L->M at 858: in lung cancer, MIM: 211980<li>L->R at 858: in lung cancer; somatic mutation, MIM: 211980<li>L->Q at 861: in lung cancer, MIM: 211980<li>G->E at 873: in lung cancer, MIM: 211980<li>R->G at 962: in dbSNP:rs17337451, MIM: 211980<li>H->P at 988: in dbSNP:rs17290699, MIM: 211980<li>L->R at 1034: in dbSNP rsrs34352568, MIM: 211980<li>A->V at 1210: in dbSNP rsrs35918369, MIM: 211980</ul>								Lung cancer [MIM:211980]	<li>rs17336639</li><li>rs2227983</li><li>rs17290699</li><li>rs35918369</li><li>rs17337451</li><li>rs34352568</li><li>rs28929495</li><li>rs17337079</li><li>rs17289589</li>	2
P00540	4342	<ul><li>R->L at 96: in dbSNP rsrs34532635<li>A->S at 105: in dbSNP:rs35392772<li>A->T at 123: in a lung adenocarcinoma sample; somatic mutation<li>S->P at 300: in dbSNP rsrs56300224</ul>									<li>rs34532635</li><li>rs35392772</li><li>rs56300224</li>	2
P00558	5230	<ul><li>L->P at 88: in congenital nonspherocytic anemia; variant Matsue<li>G->V at 158: in chronic hemolytic anemia; variant Shizuoka, MIM: 300653<li>D->V at 164: in chronic hemolytic anemia and mental retardation; variant Amiens, MIM: 300653<li>Missing  at 191: in chronic hemolytic anemia; variant Alabama, MIM: 300653<li>R->P at 206: in chronic hemolytic anemia; variant Uppsala, MIM: 300653<li>E->A at 252: in chronic hemolytic anemia; variant Antwerp, MIM: 300653<li>V->M at 266: in chronic nonspherocytic hemolytic anemia; variant Tokyo, MIM: 300653<li>D->N at 268: in Munchen; 21% of activity, MIM: 300653<li>D->V at 285: in chronic hemolytic anemia; variant Herlev; 50% of activity, MIM: 300653<li>D->N at 315: in rhabdomyolysis; variant Creteil, MIM: 300653<li>C->R at 316: in chronic hemolytic anemia; variant Michigan, MIM: 300653<li>T->N at 352, MIM: 300653</ul>								Chronic hemolytic anemia [MIM:300653]		2
P00568	203	<ul><li>G->R at 40: in hemolytic anemia<li>G->R at 64: in hemolytic anemia<li>E->Q at 123: in dbSNP:rs8192462<li>R->W at 128: in hemolytic anemia: in dbSNP rsrs28930974, MIM: 103000<li>Missing  at 140: in hemolytic anemia, MIM: 103000<li>Y->C at 164: in hemolytic anemia, MIM: 103000</ul>								Hemolytic anemia [MIM:103000]	<li>rs8192462</li><li>rs28930974</li>	2
P00709	3906	<ul><li>I->V at 46: in dbSNP:rs2232565</ul>									rs2232565	2
P00734	2147	<ul><li>E->G at 72: in dysprothrombinemia; Shanghai<li>T->M at 165: in dbSNP:rs5896<li>E->K at 200: in dysprothrombinemia; prothrombin type 3<li>R->C at 314: in dysprothrombinemia; Barcelona/Madrid<li>R->H at 314: in dysprothrombinemia; Padua-1<li>M->T at 380: in dysprothrombinemia; Himi-1<li>P->T at 386: in dbSNP:rs5897<li>R->C at 425: in dysprothrombinemia; Quick-1<li>R->H at 431: in dysprothrombinemia; Himi-2<li>R->W at 461: in dysprothrombinemia; Tokushima<li>E->A at 509: in dysprothrombinemia; Salakta/Frankfurt<li>G->V at 601: in dysprothrombinemia; Quick-2</ul>									<li>rs5897</li><li>rs5896</li>	2
P00736	715	<ul><li>Y->H at 131<li>S->L at 152: common polymorphism; dbSNP:rs1801046<li>H->Y at 163<li>E->K at 184: in dbSNP rsrs1126605<li>T->R at 186: in dbSNP:rs4519167<li>G->R at 261: in dbSNP rsrs3813728</ul>									<li>rs1801046</li><li>rs1126605</li><li>rs3813728</li><li>rs4519167</li>	2
P00738	3240	<ul><li>Missing  at 29-87: in allele HP*1F and allele HP*1S<li>N->D at 193: in allele HP*1F<li>E->K at 194: in allele HP*1F<li>D->H at 397: in dbSNP:rs12646</ul>									rs12646	2
P00739		<ul><li>D->H at 339: in dbSNP:rs12646</ul>									rs12646	2
P00740	2158	<ul><li>I->F at 7<li>I->N at 17: in HEMB; severe; UK 22, MIM: 306900<li>C->R at 28: in HEMB; moderate; HB130, MIM: 306900<li>C->Y at 28: in HEMB, MIM: 306900<li>V->I at 30: in HEMB, MIM: 306900<li>A->T at 37: in warfarin sensitivity; reduced affinity of the glutamate carboxylase for the factor IX precursor, MIM: 306900<li>R->L at 43: in HEMB; severe; Bendorf, Beuten, Gleiwitz, etc., MIM: 306900<li>R->Q at 43: in HEMB; severe; San Dimas, Oxford-3, Strasbourg-2, etc., MIM: 306900<li>R->W at 43: in HEMB; severe; Boxtel, Heiden, Lienen, etc., MIM: 306900<li>K->N at 45: in HEMB; severe; Seattle E, MIM: 306900<li>R->S at 46: in HEMB; severe; Cambridge, MIM: 306900<li>R->T at 46: in HEMB; severe, MIM: 306900<li>N->I at 48: in HEMB; severe; Calgary-16, MIM: 306900<li>S->P at 49: in HEMB, MIM: 306900<li>L->S at 52: in HEMB; severe; Gla mutant, MIM: 306900<li>E->A at 53: in HEMB; severe; Oxford-B2; Gla mutant, MIM: 306900<li>E->G at 54: in HEMB; severe; HB151; Gla mutant, MIM: 306900<li>F->C at 55: in HEMB, MIM: 306900<li>G->A at 58: in HEMB; severe; Hong Kong-1, MIM: 306900<li>G->R at 58: in HEMB; severe; Los Angeles-4, MIM: 306900<li>Missing  at 62-63: in HEMB; severe, MIM: 306900<li>E->V at 66: in HEMB; moderate, MIM: 306900<li>E->K at 67: in HEMB; severe; Nagoya-4; Gla mutant, MIM: 306900<li>F->S at 71: in HEMB; severe, MIM: 306900<li>E->K at 73: in HEMB; severe; Seattle-3; Gla mutant, MIM: 306900<li>E->V at 73: in HEMB; severe; Chongqing; Gla mutant, MIM: 306900<li>R->Q at 75: in HEMB; mild, MIM: 306900<li>E->D at 79: in HEMB, MIM: 306900<li>T->R at 84: in HEMB, MIM: 306900<li>Y->C at 91: in HEMB; moderate, MIM: 306900<li>D->G at 93: in HEMB; moderate; Alabama, MIM: 306900<li>Q->P at 96: in HEMB; severe; New London, MIM: 306900<li>C->S at 97: in HEMB, MIM: 306900<li>P->R at 101: in HEMB, MIM: 306900<li>C->R at 102: in HEMB; severe; Basel, MIM: 306900<li>G->D at 106: in HEMB, MIM: 306900<li>G->S at 106: in HEMB; mild; Durham, MIM: 306900<li>C->S at 108: in HEMB, MIM: 306900<li>D->N at 110: in HEMB; severe; Oxford-D1, MIM: 306900<li>I->S at 112: in HEMB, MIM: 306900<li>N->K at 113: in HEMB; mild, MIM: 306900<li>Y->C at 115: in HEMB; severe, MIM: 306900<li>C->F at 119: in HEMB; severe, MIM: 306900<li>C->R at 119: in HEMB; Iran, MIM: 306900<li>E->K at 124: in HEMB, MIM: 306900<li>G->E at 125: in HEMB, MIM: 306900<li>G->R at 125: in HEMB, MIM: 306900<li>G->V at 125: in HEMB, MIM: 306900<li>Missing  at 129-130: in HEMB, MIM: 306900<li>C->Y at 134: in HEMB, MIM: 306900<li>I->T at 136: in HEMB; mild, MIM: 306900<li>G->D at 139: in HEMB; severe, MIM: 306900<li>G->S at 139: in HEMB, MIM: 306900<li>C->F at 155: in HEMB; severe, MIM: 306900<li>G->E at 160: in HEMB; mild, MIM: 306900<li>Q->H at 167: in HEMB; mild, MIM: 306900<li>S->C at 169: in HEMB, MIM: 306900<li>C->F at 170: in HEMB, MIM: 306900<li>C->R at 178: in HEMB, MIM: 306900<li>C->W at 178: in HEMB; severe, MIM: 306900<li>R->C at 191: in HEMB; moderate; Albuquerque, Cardiff-1, etc., MIM: 306900<li>R->H at 191: in HEMB; moderate; Chapel-Hill, Chicago-2, etc., MIM: 306900<li>T->A at 194: in dbSNP:rs6048, MIM: 306900<li>R->G at 226: in HEMB; severe; Madrid, MIM: 306900<li>R->Q at 226: in HEMB; severe; Hilo and Novara, MIM: 306900<li>R->W at 226: in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc., MIM: 306900<li>V->D at 227: in HEMB; mild, MIM: 306900<li>V->F at 227: in HEMB; Milano, MIM: 306900<li>V->F at 228: in HEMB; severe; Kashihara, MIM: 306900<li>V->L at 228: in HEMB; mild; Cardiff-2, MIM: 306900<li>Q->H at 241: in HEMB, MIM: 306900<li>Q->K at 241: in HEMB, MIM: 306900<li>C->S at 252: in HEMB; severe; this is the mutation in the index case of the disease, Stephen Christmas, MIM: 306900<li>C->Y at 252: in HEMB, MIM: 306900<li>G->E at 253: in HEMB; severe, MIM: 306900<li>G->R at 253: in HEMB; severe; Luanda, MIM: 306900<li>A->T at 265: in HEMB; mild, MIM: 306900<li>C->W at 268: in HEMB; moderate, MIM: 306900<li>A->T at 279: in HEMB; mild, MIM: 306900<li>N->D at 283: in HEMB; severe, MIM: 306900<li>Missing  at 286: in HEMB; severe, MIM: 306900<li>E->V at 291: in HEMB; Monschau, MIM: 306900<li>R->G at 294: in HEMB; severe, MIM: 306900<li>R->Q at 294: in HEMB; mild to moderate; Dreihacken, Penafiel and Seattle-4, MIM: 306900<li>H->R at 302: in HEMB, MIM: 306900<li>N->S at 306: in HEMB; mild, MIM: 306900<li>I->F at 316: in HEMB, MIM: 306900<li>L->R at 318: in HEMB, MIM: 306900<li>L->Q at 321: in HEMB; severe, MIM: 306900<li>P->H at 333: in HEMB; severe, MIM: 306900<li>P->T at 333: in HEMB, MIM: 306900<li>T->K at 342: in HEMB; mild, MIM: 306900<li>T->M at 342: in HEMB; moderate, MIM: 306900<li>I->L at 344: in HEMB, MIM: 306900<li>G->D at 351: in HEMB, MIM: 306900<li>W->C at 356: in HEMB; severe, MIM: 306900<li>G->E at 357: in HEMB; severe; Amagasaki, MIM: 306900<li>G->R at 357: in HEMB, MIM: 306900<li>K->E at 362: in HEMB; moderate, MIM: 306900<li>G->W at 363: in HEMB, MIM: 306900<li>A->D at 366: in HEMB, MIM: 306900<li>R->G at 379: in HEMB; moderate, MIM: 306900<li>R->Q at 379: in HEMB; severe; Iceland-1, London and Sesimbra, MIM: 306900<li>C->Y at 382: in HEMB, MIM: 306900<li>L->F at 383: in HEMB, MIM: 306900<li>L->I at 383: in HEMB, MIM: 306900<li>K->E at 387: in HEMB; mild, MIM: 306900<li>I->F at 390: in HEMB; severe, MIM: 306900<li>M->K at 394: in HEMB, MIM: 306900<li>F->I at 395: in HEMB, MIM: 306900<li>F->L at 395: in HEMB, MIM: 306900<li>C->F at 396: in HEMB, MIM: 306900<li>C->S at 396: in HEMB; severe, MIM: 306900<li>A->P at 397: in HEMB; mild; Hong Kong-11, MIM: 306900<li>R->T at 404: in HEMB, MIM: 306900<li>C->R at 407: in HEMB, MIM: 306900<li>C->S at 407: in HEMB; severe, MIM: 306900<li>D->H at 410: in HEMB; Mechtal, MIM: 306900<li>S->G at 411: in HEMB; Varel, MIM: 306900<li>S->I at 411: in HEMB; Schmallenberg, MIM: 306900<li>G->E at 412: in HEMB, MIM: 306900<li>G->R at 413: in HEMB; moderate to severe, MIM: 306900<li>P->T at 414: in HEMB; Bergamo, MIM: 306900<li>V->E at 419: in HEMB; moderately severe, MIM: 306900<li>F->V at 424: in HEMB, MIM: 306900<li>T->P at 426: in HEMB; severe; Barcelos, MIM: 306900<li>S->T at 430: in HEMB, MIM: 306900<li>W->G at 431: in HEMB, MIM: 306900<li>W->R at 431: in HEMB; moderate, MIM: 306900<li>G->S at 432: in HEMB; severe, MIM: 306900<li>G->V at 432: in HEMB; severe, MIM: 306900<li>E->A at 433: in HEMB, MIM: 306900<li>E->K at 433: in HEMB, MIM: 306900<li>C->Y at 435: in HEMB, MIM: 306900<li>A->V at 436: in HEMB; moderately severe; Niigata, MIM: 306900<li>G->E at 442: in HEMB, MIM: 306900<li>G->R at 442: in HEMB; severe; Angers, MIM: 306900<li>I->T at 443: in HEMB; moderately severe; Long Beach, Los Angeles and Vancouver, MIM: 306900<li>T->TIYT at 445: in HEMB; severe; Lousada, MIM: 306900<li>R->Q at 449: in HEMB; mild, MIM: 306900<li>R->W at 449: in HEMB; mild, MIM: 306900<li>Y->C at 450: in HEMB; severe, MIM: 306900<li>W->R at 453: in HEMB, MIM: 306900<li>I->T at 454: in HEMB; Italy, MIM: 306900<li>T->P at 461: in dbSNP:rs4149751, MIM: 306900</ul>							<li>P51569</li><li>P22094</li><li>P22832</li><li>Q9CE02</li>	Recessive X-linked hemophilia B (HEMB) [MIM:306900]	<li>rs6048</li><li>rs4149751</li>	2
P00742	2159	<ul><li>L->I at 7: in dbSNP:rs5963<li>Q->H at 30: in dbSNP:rs5961<li>A->T at 152: in dbSNP:rs3211772<li>G->R at 192: in dbSNP:rs3211783</ul>									<li>rs3211783</li><li>rs3211772</li><li>rs5961</li><li>rs5963</li>	2
P00746	1675	<ul><li>V->G at 213: in complement factor D deficiency, MIM: 134350<li>C->R at 214: in complement factor D deficiency, MIM: 134350<li>I->M at 248: in dbSNP:rs2230216, MIM: 134350</ul>								Complement factor D deficiency [MIM:134350]	rs2230216	2
P00747	5340	<ul><li>K->E at 38: in ligneous conjonctivitis<li>I->R at 46: in dbSNP:rs1049573<li>E->K at 57: in dbSNP:rs4252070<li>H->Q at 133: in dbSNP:rs4252186<li>R->K at 134: in dbSNP:rs2817<li>L->P at 147: in ligneous conjonctivitis<li>R->H at 235: in ligneous conjunctivitis, MIM: 217090<li>R->H at 261: in dbSNP:rs4252187, MIM: 217090<li>V->F at 374: in thrombophilia; Nagoya-1, MIM: 188050<li>R->W at 408: in dbSNP:rs4252119, MIM: 188050<li>K->I at 453: in dbSNP:rs1804181, MIM: 188050<li>D->N at 472: in dbSNP:rs4252125, MIM: 188050<li>A->V at 494: in dbSNP:rs4252128, MIM: 188050<li>R->W at 523: in dbSNP:rs4252129, MIM: 188050<li>R->H at 532: in ligneous conjonctivitis, MIM: 188050<li>S->P at 591: in thrombophilia, MIM: 188050<li>A->T at 620: in thrombophilia; inactive; Nagoya-2/Tochigi/Kagoshima, MIM: 188050<li>V->D at 676: in dbSNP:rs17857492, MIM: 188050<li>G->R at 751: in Kanagawa-1; 50% activity, MIM: 188050</ul>								<li>Ligneous conjunctivitis [MIM:217090]</li><li>Thrombophilia [MIM:188050]</li>	<li>rs1804181</li><li>rs4252186</li><li>rs4252070</li><li>rs1049573</li><li>rs4252187</li><li>rs4252125</li><li>rs4252128</li><li>rs4252119</li><li>rs2817</li><li>rs4252129</li><li>rs17857492</li>	2
P00748		<ul><li>Y->C at 53: in FA12D; Tenri; inactive, MIM: 234000<li>R->P at 142: in FA12D; CRM-negative phenotype; low levels of accumulation in the cell; not secreted, MIM: 234000<li>P->A at 207: in dbSNP:rs17876030, MIM: 234000<li>T->K at 328: in HAE3, MIM: 610618<li>T->R at 328: in HAE3, MIM: 610618<li>A->G at 340: in dbSNP:rs2230938, MIM: 610618<li>P->Q at 342: in dbSNP:rs2230939, MIM: 610618<li>R->P at 372: in FA12D; Locarno; inactive, MIM: 234000<li>A->T at 411: in FA12D; Shizuoka; CRM-negative phenotype; transcribed and synthesized at wild-type levels; not secreted, MIM: 234000<li>L->M at 414: in FA12D; CRM-negative phenotype, MIM: 234000<li>R->Q at 417: in FA12D; CRM-negative phenotype, MIM: 234000<li>Q->K at 440: in FA12D; CRM-negative phenotype; accumulation in the cell; low secretion, MIM: 234000<li>D->N at 461: in FA12D; CRM-positive phenotype, MIM: 234000<li>W->C at 505: in FA12D; CRM-negative phenotype; transcribed and synthesized at wild-type levels; not secreted, MIM: 234000<li>G->D at 545: in dbSNP:rs17876034, MIM: 234000<li>G->R at 589: in FA12D; CRM-positive phenotype, MIM: 234000<li>C->S at 590: in FA12D; Washington D.C.; inactive, MIM: 234000<li>Y->H at 605: in dbSNP:rs17876035, MIM: 234000</ul>	secretion	GO:0046903						<li>Hereditary angioedema type 3 (HAE3) [MIM:610618]</li><li>Factor XII deficiency (FA12D) [MIM:234000]</li>	<li>rs17876034</li><li>rs17876030</li><li>rs17876035</li><li>rs2230939</li><li>rs2230938</li>	2
P00749	5328	<ul><li>V->L at 15: in dbSNP rsrs2227580<li>P->L at 141: rare polymorphism; linked with a decrease in the affinity for fibrin-binding: in dbSNP rsrs2227564<li>M->I at 214<li>K->Q at 231: in dbSNP rsrs2227567</ul>			binding	GO:0005488					<li>rs2227564</li><li>rs2227580</li><li>rs2227567</li>	2
P00750	5327	<ul><li>A->D at 34: in dbSNP:rs8178733<li>R->S at 136: in dbSNP rsrs8178747<li>A->T at 146: in dbSNP:rs8178748<li>R->W at 164: in dbSNP:rs2020921</ul>									<li>rs8178748</li><li>rs2020921</li><li>rs8178747</li><li>rs8178733</li>	2
P00751	629	<ul><li>L->H at 9: in dbSNP:rs4151667<li>W->Q at 28: in allele FA; requires 2 nucleotide substitutions<li>W->R at 28: in allele S<li>R->Q at 32: in allele S; dbSNP:rs641153<li>R->W at 32: in dbSNP:rs12614<li>G->S at 252: in dbSNP:rs4151651<li>K->E at 565: in dbSNP:rs4151659<li>D->E at 651: in dbSNP:rs4151660<li>A->S at 736: in allele FA</ul>									<li>rs4151660</li><li>rs4151651</li><li>rs4151659</li><li>rs641153</li><li>rs4151667</li><li>rs12614</li>	2
P00790	5222	<ul><li>L->F at 28: in isozyme 5<li>E->K at 58: in isozyme 3A, isozyme 4 and isozyme 5<li>V->L at 92: in isozyme 4 and isozyme 5<li>Q->K at 222<li>A->T at 265: in dbSNP rsrs470947<li>L->V at 353: in dbSNP:rs17595<li>D->E at 376</ul>							P08682		<li>rs17595</li><li>rs470947</li>	2
P00797	5972	<ul><li>R->W at 33: in dbSNP:rs11571098<li>D->N at 104: in RTD, MIM: 267430<li>Q->K at 160: in dbSNP:rs11571083, MIM: 267430<li>G->R at 217: in dbSNP:rs11571117, MIM: 267430<li>R->K at 230: in RTD, MIM: 267430</ul>								Renal tubular dysgenesis (RTD) [MIM:267430]	<li>rs11571117</li><li>rs11571083</li><li>rs11571098</li>	2
P00813	100	<ul><li>D->N at 8: in allele ADA*2; in about 10% of the population; 20% to 30% decrease in activity; affects duration and intensity of deep sleep<li>H->D at 15: in ADASCID; loss of activity, MIM: 102700<li>G->R at 20: in ADASCID; loss of activity, MIM: 102700<li>G->C at 74: in ADASCID; delayed-onset, MIM: 102700<li>R->W at 76: in ADASCID, MIM: 102700<li>K->R at 80: in dbSNP rsrs11555566, MIM: 102700<li>A->D at 83: in ADASCID; loss of activity, MIM: 102700<li>R->L at 101: in ADASCID, MIM: 102700<li>R->Q at 101: in ADASCID; loss of activity: in dbSNP rsrs28930970, MIM: 102700<li>R->W at 101: in ADASCID: in dbSNP rsrs28930969, MIM: 102700<li>L->P at 107: in ADASCID, MIM: 102700<li>V->M at 129: in ADASCID; delayed-onset, MIM: 102700<li>G->E at 140: in ADASCID, MIM: 102700<li>R->Q at 142: in ADASCID; 20% of activity; ADA deficiency of late onset, MIM: 102700<li>R->Q at 149: in ADASCID, MIM: 102700<li>R->W at 149: in ADASCID, MIM: 102700<li>L->M at 152: in ADASCID; 1,5% of activity, partial ADA deficiency: in dbSNP rsrs28930972, MIM: 102700<li>R->C at 156: in ADASCID: in dbSNP rsrs28930971, MIM: 102700<li>R->H at 156: in ADASCID, MIM: 102700<li>V->M at 177: in ADASCID; loss of activity, MIM: 102700<li>A->D at 179: in ADASCID; loss of activity, MIM: 102700<li>Q->P at 199: in ADASCID; delayed-onset, MIM: 102700<li>R->C at 211: in ADASCID; late onset, MIM: 102700<li>R->H at 211: in ADASCID, MIM: 102700<li>A->T at 215: in ADASCID, MIM: 102700<li>G->R at 216: in ADASCID; severe, MIM: 102700<li>T->I at 233: in ADASCID; 20% of activity, partial ADA deficiency: in dbSNP rsrs28930973, MIM: 102700<li>P->L at 274: in ADASCID, MIM: 102700<li>S->L at 291: in ADASCID, MIM: 102700<li>P->Q at 297: in ADASCID, MIM: 102700<li>L->R at 304: in ADASCID; loss of activity, MIM: 102700<li>A->V at 329: in ADASCID, MIM: 102700<li>Missing  at 337: in ADASCID, MIM: 102700</ul>	sleep	GO:0030431					<li>Q5ZKP6</li><li>P56658</li><li>P00813</li>	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	<li>rs28930969</li><li>rs28930973</li><li>rs28930971</li><li>rs28930972</li><li>rs11555566</li><li>rs28930970</li>	2
P00846		<ul><li>A->T at 7<li>A->T at 11<li>I->V at 14<li>G->S at 16<li>T->S at 33<li>L->P at 37<li>T->I at 53<li>T->A at 59<li>M->T at 60<li>H->Y at 61<li>A->T at 80<li>H->Y at 90<li>T->A at 112<li>F->L at 117<li>I->V at 121<li>T->A at 133<li>A->T at 155<li>L->P at 156: in LS, MIM: 256000<li>L->R at 156: in NARP and LS, MIM: 551500<li>A->T at 177, MIM: 551500<li>T->A at 178, MIM: 551500<li>S->L at 182, MIM: 551500<li>I->T at 192: in LHON; possible rate primary mutation, MIM: 535000<li>I->V at 192, MIM: 535000<li>F->L at 193, MIM: 535000<li>I->T at 204, MIM: 535000<li>V->I at 213, MIM: 535000<li>L->P at 217: in LS and infantile bilateral striatal necrosis, MIM: 256000<li>S->G at 219, MIM: 256000</ul>								<li>Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]</li><li>Leigh syndrome (LS) [MIM:256000]</li><li>Infantile bilateral striatal necrosis [MIM:500003]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li>		2
P00915	759	<ul><li>H->R at 68: in Michigan-1<li>A->V at 143: in dbSNP:rs7821248<li>G->R at 254: in Guam</ul>									rs7821248	2
P00918	760	<ul><li>K->E at 18: in Jogjakarta<li>Q->P at 92: in OPTB3; in Czechoslovakia, MIM: 259730<li>H->Y at 94: in OPTB3; partial loss of activity, MIM: 259730<li>H->Y at 107: in OPTB3; frequent mutation, MIM: 259730<li>G->R at 144: in OPTB3; complete loss of activity, MIM: 259730<li>P->H at 236: in Melbourne, MIM: 259730<li>N->D at 252: in dbSNP:rs2228063, MIM: 259730</ul>								Autosomal recessive osteopetrosis type 3 (OPTB3) [MIM:259730]	rs2228063	2
P00966	445	<ul><li>G->S at 14: in CTLN1, MIM: 215700<li>S->L at 18: in CTLN1, MIM: 215700<li>C->R at 19: in CTLN1, MIM: 215700<li>S->I at 65: in dbSNP:rs2229556, MIM: 215700<li>V->A at 69: in CTLN1, MIM: 215700<li>R->C at 86: in CTLN1, MIM: 215700<li>R->H at 86: in CTLN1, MIM: 215700<li>R->S at 95: in CTLN1, MIM: 215700<li>P->S at 96: in CTLN1, MIM: 215700<li>R->L at 108: in CTLN1; dbSNP:rs35269064, MIM: 215700<li>G->D at 117: in CTLN1, MIM: 215700<li>G->S at 117: in CTLN1, MIM: 215700<li>A->T at 118: in CTLN1, MIM: 215700<li>T->I at 119: in CTLN1, MIM: 215700<li>R->C at 157: in CTLN1, MIM: 215700<li>R->H at 157: in CTLN1, MIM: 215700<li>W->R at 179: in CTLN1; mild, MIM: 215700<li>S->N at 180: in CTLN1, MIM: 215700<li>E->K at 191: in CTLN1, MIM: 215700<li>A->V at 192: in CTLN1, MIM: 215700<li>R->H at 265: in CTLN1, MIM: 215700<li>V->M at 269: in CTLN1, MIM: 215700<li>E->Q at 270: in CTLN1, MIM: 215700<li>R->C at 272: in CTLN1, MIM: 215700<li>R->Q at 279: in CTLN1, MIM: 215700<li>G->R at 280: in CTLN1, MIM: 215700<li>E->K at 283: in CTLN1, MIM: 215700<li>R->W at 304: in CTLN1, MIM: 215700<li>K->Q at 310: in CTLN1, MIM: 215700<li>K->R at 310: in CTLN1, MIM: 215700<li>G->S at 324: in CTLN1, MIM: 215700<li>G->V at 362: in CTLN1; mild, MIM: 215700<li>R->G at 363: in CTLN1, MIM: 215700<li>R->L at 363: in CTLN1, MIM: 215700<li>R->Q at 363: in CTLN1, MIM: 215700<li>R->W at 363: in CTLN1, MIM: 215700<li>T->I at 389: in CTLN1, MIM: 215700<li>G->R at 390: in CTLN1, MIM: 215700</ul>								Citrullinemia type 1 (CTLN1) [MIM:215700]	<li>rs35269064</li><li>rs2229556</li>	2
P00973	4938	<ul><li>S->G at 162: in dbSNP:rs1131454</ul>									rs1131454	2
P00995	6690	<ul><li>L->F at 12: in HPC; dbSNP:rs35877720, MIM: 167800<li>L->P at 14: in HPC, MIM: 167800<li>N->S at 34: in HPC and TCP; may confer susceptibility to fibrocalculous pancreatic diabetes; dbSNP:rs17107315, MIM: 608189<li>P->S at 55, MIM: 608189<li>R->H at 67: in dbSNP:rs35523678, MIM: 608189</ul>								<li>Tropical calcific pancreatitis (TCP) [MIM:608189]</li><li>Hereditary pancreatitis (HPC) [MIM:167800]</li>	<li>rs35523678</li><li>rs35877720</li><li>rs17107315</li>	2
P01008	462	<ul><li>Y->S at 17: in AT3D; type-I, MIM: 107300<li>L->P at 23: in AT3D; type-I; impairs cotranslational processing, MIM: 107300<li>V->E at 30: in Dublin; dbSNP:rs2227624, MIM: 107300<li>C->R at 32: in AT3D; type-I, MIM: 107300<li>I->N at 39: in AT3D; type-II; Rouen-3; lack of heparin-binding properties: in dbSNP rsrs28929468, MIM: 107300<li>M->T at 52: previously Whitechapel, MIM: 107300<li>R->C at 56: in AT3D; type-II; Rouen-4; lack of heparin-binding properties: in dbSNP rsrs28929469, MIM: 107300<li>P->L at 73: in AT3D; type-II; Basel/Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability, MIM: 107300<li>R->C at 79: in AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability, MIM: 107300<li>R->H at 79: in AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties, MIM: 107300<li>R->S at 79: in AT3D; type-II; Rouen-2; lack of heparin-binding properties, MIM: 107300<li>Missing  at 87: in AT3D; type-I, MIM: 107300<li>R->C at 89: in AT3D; type-I, MIM: 107300<li>F->L at 90: in AT3D; type-I; Budapest-6, MIM: 107300<li>Y->C at 95: in AT3D; type-I, MIM: 107300<li>Y->S at 95: in AT3D; type-I, MIM: 107300<li>L->P at 98: in AT3D; type-I, MIM: 107300<li>Missing  at 108-109: in AT3D; type-I, MIM: 107300<li>P->T at 112: in AT3D; type-I, MIM: 107300<li>M->K at 121: in AT3D; type-I, MIM: 107300<li>C->R at 127: in AT3D; type-I, MIM: 107300<li>L->F at 131: in AT3D; type-II; Budapest-3/Budapest-7, MIM: 107300<li>L->V at 131: in AT3D; type-II; Southport, MIM: 107300<li>Q->K at 133: in AT3D; type I, MIM: 107300<li>Missing  at 138-139: in AT3D; type-I, MIM: 107300<li>K->E at 146: in AT3D; Dreux; complete loss af heparin binding, MIM: 107300<li>T->A at 147: in dbSNP:rs2227606, MIM: 107300<li>S->P at 148: in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis, MIM: 107300<li>Q->P at 150: in AT3D; type-II; Vienna, MIM: 107300<li>Missing  at 152-154: in AT3D; type-I, MIM: 107300<li>H->Y at 152: in AT3D; type-I, MIM: 107300<li>Missing  at 153: in AT3D; type-I, MIM: 107300<li>L->P at 158: in AT3D; type-I, MIM: 107300<li>C->Y at 160: in AT3D; type-I, MIM: 107300<li>R->Q at 161: in AT3D; type-II; Geneva, MIM: 107300<li>N->T at 167, MIM: 107300<li>L->H at 178: in AT3D; type-I, MIM: 107300<li>F->L at 179: in AT3D; type-I, MIM: 107300<li>Y->C at 190: polymorphism in population of Scandinavian origin, MIM: 107300<li>Y->C at 198: in AT3D; type-I and -II; Whitechapel, MIM: 107300<li>Y->H at 198: in AT3D; type-I, MIM: 107300<li>S->F at 214: in AT3D; type-I, MIM: 107300<li>S->Y at 214: in AT3D; type-I, MIM: 107300<li>Missing  at 218: in AT3D; type-I, MIM: 107300<li>N->D at 219: in AT3D; type-II; Rouen-6; increases affinity for heparin, MIM: 107300<li>N->K at 219: in AT3D; type-II; Glasgow-3, MIM: 107300<li>S->P at 223: in AT3D; type-I, MIM: 107300<li>T->I at 243: in AT3D; type-I, MIM: 107300<li>I->T at 251: in AT3D; type-I, MIM: 107300<li>W->R at 257: in AT3D; type-I, MIM: 107300<li>F->L at 261: in AT3D, MIM: 107300<li>E->K at 269: in AT3D; type-II; Truro, increases affinity for heparin, MIM: 107300<li>Missing  at 273-307: in AT3D; type-I, MIM: 107300<li>M->I at 283: in AT3D; type-II, MIM: 107300<li>M->V at 283: in AT3D; type-II, MIM: 107300<li>L->P at 302: in AT3D; type-I, MIM: 107300<li>I->N at 316: in AT3D; type-II; Haslar/Whitechapel, MIM: 107300<li>S->P at 323: in AT3D, MIM: 107300<li>E->K at 334: in AT3D; type-II, MIM: 107300<li>Missing  at 344: in AT3D; type-I, MIM: 107300<li>S->P at 381: in AT3D; type-I, MIM: 107300<li>R->Q at 391, MIM: 107300<li>S->P at 397: in AT3D; type-I, MIM: 107300<li>D->H at 398: in AT3D; type-I, MIM: 107300<li>S->R at 412: in AT3D; type-I, MIM: 107300<li>A->T at 414: in AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90%, MIM: 107300<li>A->P at 416: in AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1: in dbSNP rsrs28930978, MIM: 107300<li>A->S at 416: in AT3D; type-II; Cambridge-2, MIM: 107300<li>A->V at 419: in AT3D; type-I, MIM: 107300<li>G->D at 424: in AT3D; type-II; Stockholm, MIM: 107300<li>R->C at 425: in AT3D; type-II; Northwick-Park/Milano-1/Frankfurt-1; deprived of inhibitory activity, MIM: 107300<li>R->H at 425: in AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity, MIM: 107300<li>R->P at 425: in AT3D; type-II; Pescara; deprived of inhibitory of activity, MIM: 107300<li>S->L at 426: in AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity, MIM: 107300<li>F->C at 434: in AT3D; type-II; Rosny, MIM: 107300<li>F->L at 434: in AT3D; type-II; Maisons-Laffite, MIM: 107300<li>F->S at 434: in AT3D; type-II; Torino, MIM: 107300<li>A->T at 436: in AT3D; type-II; Oslo/Paris-3, MIM: 107300<li>N->K at 437: in AT3D; type-II; La Rochelle, MIM: 107300<li>R->G at 438: in AT3D; type-II, MIM: 107300<li>R->M at 438: in AT3D; type-II; Kyoto, MIM: 107300<li>P->L at 439: in AT3D; type-II; Utah; deprived of inhibitory activity, MIM: 107300<li>P->T at 439: in AT3D; type-II; Budapest-5, MIM: 107300<li>L->P at 441: in AT3D; type-II, MIM: 107300<li>I->T at 453: in AT3D; type-I, MIM: 107300<li>G->R at 456: in AT3D; type-I, MIM: 107300<li>R->T at 457: in AT3D; type-II, MIM: 107300<li>Missing  at 459-461: in AT3D; type-I, MIM: 107300<li>A->D at 459: in AT3D; type-I, MIM: 107300<li>P->L at 461: in AT3D; type-II; Budapest, MIM: 107300<li>C->F at 462: in AT3D; type-I, MIM: 107300</ul>			heparin-binding	GO:0008201			P84122	Antithrombin-III deficiency (AT3D) [MIM:107300]	<li>rs2227606</li><li>rs2227624</li><li>rs28930978</li><li>rs28929468</li><li>rs28929469</li>	2
P01009	5265	<ul><li>S->L at 4: in Z-Wrexham<li>D->A at 26: in V-Munich<li>T->A at 37: in dbSNP:rs11558262<li>A->T at 58: in M5-Karlsruhe<li>R->C at 63: in I: in dbSNP rsrs28931570<li>L->P at 65: in M-Procida: in dbSNP rsrs28931569<li>S->F at 69: in M6-Bonn<li>Missing  at 75: in M-Malton, M-Nichinan and M-Palermo; associated with very low serum levels of AAT<li>S->F at 77: in S-Iiyama: in dbSNP rsrs55819880<li>A->T at 84: in M6-Passau<li>G->E at 91: in M-Mineral springs; causes reduced AAT secretion: in dbSNP rsrs28931568<li>T->I at 92: in QO-Lisbon; deficient AAT with very low serum levels<li>T->M at 109: in Z-Bristol; deficient AA; disrupts the N-glycosylation site N-107<li>P->T at 112: in M5-Berlin<li>I->N at 116: in QO-Ludwigshafen: in dbSNP rsrs28931572<li>R->H at 125: in M2; associated with D-400; dbSNP:rs709932<li>G->S at 139: in QO-Newport; dbSNP:rs11558261<li>G->R at 172: in V and M-Nichinan<li>G->W at 172: in M2-Obernburg<li>Q->E at 180: in L-Frankfurt<li>QGKIVDLVK->GFQN at 190-198: in Aberrant form<li>E->K at 228: in X<li>V->A at 237: in M1A and Z; associated with K-366 in Z; dbSNP:rs6647<li>R->C at 247: in F: in dbSNP rsrs28929470<li>D->V at 280: in P-Duarte/P-Cardiff/P-Lowell; associated with H-415 in Y-Barcelona: in dbSNP rsrs28929472<li>E->V at 288: in S and T; dbSNP:rs17580<li>Missing  at 305: in Basque<li>S->F at 354: in S-Munich<li>A->T at 360: in W-Bethesda; dbSNP:rs1802959<li>D->N at 365: in P-St.Albans/P-Donauwoerth<li>E->K at 366: in Z/Z-Augsburg/Z-Tun; associated with A-237 in Z: in dbSNP rsrs28929474<li>M->R at 382: in Pittsburgh; has antithrombin activity<li>P->H at 386: in Sao Tome<li>P->T at 386: in L-Offenbach<li>E->K at 387: in Christchurch<li>P->L at 393: in M-Heerlen<li>E->D at 400: in M2 and M3; associated with H-125 in M2; dbSNP:rs1303<li>P->H at 415: in Y-Barcelona; associated with V-280</ul>	secretion	GO:0046903					<li>P07758</li><li>P26595</li><li>P01009</li><li>P22599</li><li>P01010</li>		<li>rs709932</li><li>rs28931572</li><li>rs6647</li><li>rs17580</li><li>rs28929474</li><li>rs1303</li><li>rs28931568</li><li>rs28931569</li><li>rs28929472</li><li>rs28929470</li><li>rs55819880</li><li>rs11558262</li><li>rs1802959</li><li>rs11558261</li><li>rs28931570</li>	2
P01011	12	<ul><li>A->T at 9: in dbSNP:rs4934<li>L->P at 78: in COPD; Bochum-1; dbSNP:rs1800463, MIM: 107280<li>A->G at 167, MIM: 107280<li>P->A at 252: in COPD; Bonn-1; dbSNP:rs17473, MIM: 107280<li>K->R at 267: in dbSNP:rs17853314, MIM: 107280<li>M->V at 401: associated with occlusive-cerebrovascular disease; Isehara-1, MIM: 107280<li>D->G at 407: in dbSNP:rs10956, MIM: 107280</ul>							<li>P53619</li><li>Q5RA77</li><li>P48444</li><li>Q5ZL57</li>	Chronic obstructive pulmonary disease (COPD) [MIM:107280]	<li>rs1800463</li><li>rs4934</li><li>rs17853314</li><li>rs10956</li><li>rs17473</li>	2
P01019	183	<ul><li>L->F at 43: in pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499<li>E->K at 98: in dbSNP:rs11568032<li>G->C at 114: in dbSNP:rs2229389<li>T->M at 137: in dbSNP:rs34829218<li>T->M at 207: associated with hypertension; dbSNP:rs4762<li>T->I at 242: in hypertension<li>L->R at 244: in hypertension; dbSNP:rs5041<li>M->I at 268: in dbSNP:rs11568053<li>M->T at 268: associated with essential hypertension and pre-eclampsia; dbSNP:rs699<li>Y->C at 281: in hypertension; alters the structure, glycosylation and secretion of angiotensinogen: in dbSNP rsrs56073403<li>P->S at 335: in dbSNP:rs17856352<li>R->Q at 375: in RTD, MIM: 267430<li>L->M at 392: in dbSNP:rs1805090, MIM: 267430</ul>	secretion	GO:0046903					<li>P67885</li><li>P67886</li><li>P01016</li><li>P01017</li><li>Q10751</li>	Renal tubular dysgenesis (RTD) [MIM:267430]	<li>rs1805090</li><li>rs5041</li><li>rs17856352</li><li>rs56073403</li><li>rs11568053</li><li>rs699</li><li>rs41271499</li><li>rs4762</li><li>rs11568032</li><li>rs2229389</li><li>rs34829218</li>	2
P01023	2	<ul><li>D->N at 639: in dbSNP:rs226405<li>R->H at 704: in dbSNP:rs1800434<li>L->Q at 815: in dbSNP:rs3180392<li>C->Y at 972: probably interferes with the activity; dbSNP:rs1800433<li>V->I at 1000: in dbSNP:rs669</ul>									<li>rs3180392</li><li>rs669</li><li>rs226405</li><li>rs1800434</li><li>rs1800433</li>	2
P01024	718	<ul><li>R->G at 102: in allele C3F; associated with ARMD9; dbSNP:rs2230199<li>P->L at 314: in dbSNP:rs1047286<li>E->D at 469: in dbSNP:rs11569422<li>D->N at 549: in C3 deficiency; impairs secretion, MIM: 120700<li>R->K at 863: in dbSNP:rs11569472, MIM: 120700<li>D->N at 1216: in C3S, MIM: 120700<li>G->D at 1224: in dbSNP:rs11569534, MIM: 120700<li>R->Q at 1320: in C3 deficiency; allotype C3'F02'; may inhibit IC3B synthesis, MIM: 120700<li>I->T at 1367: in dbSNP:rs11569541, MIM: 120700<li>Q->R at 1521: in dbSNP:rs7256789, MIM: 120700<li>H->N at 1601: in dbSNP:rs1803225, MIM: 120700<li>S->R at 1619: in dbSNP:rs2230210, MIM: 120700</ul>	secretion	GO:0046903						C3 deficiency [MIM:120700]	<li>rs11569422</li><li>rs1803225</li><li>rs2230199</li><li>rs7256789</li><li>rs11569534</li><li>rs2230210</li><li>rs11569472</li><li>rs11569541</li><li>rs1047286</li>	2
P01031	727	<ul><li>V->I at 145: in dbSNP:rs17216529<li>L->M at 354: in dbSNP:rs34552775<li>T->I at 389<li>R->G at 449: in dbSNP:rs2230213<li>F->S at 518<li>V->I at 802: in dbSNP:rs17611<li>R->Q at 928: in dbSNP:rs41309892<li>G->V at 933: in dbSNP rsrs41309902<li>D->Y at 966: in dbSNP:rs2230212<li>I->T at 1033: in dbSNP:rs41311881<li>D->N at 1037: in dbSNP rsrs41311883<li>Q->K at 1043: in dbSNP:rs41311887<li>M->L at 1053: in dbSNP:rs17609<li>S->N at 1310: in dbSNP:rs17610<li>V->A at 1365: in dbSNP:rs16910245<li>E->D at 1437: in dbSNP:rs17612</ul>									<li>rs41311887</li><li>rs34552775</li><li>rs17612</li><li>rs17609</li><li>rs2230212</li><li>rs2230213</li><li>rs41309892</li><li>rs41309902</li><li>rs16910245</li><li>rs17216529</li><li>rs41311883</li><li>rs17610</li><li>rs17611</li><li>rs41311881</li>	2
P01034	1471	<ul><li>A->T at 25: associated with ARMD11; dbSNP:rs1064039<li>L->Q at 94: in AMYL6: in dbSNP rsrs28939068, MIM: 105150</ul>								Amyloidosis type 6 (AMYL6) [MIM:105150]	<li>rs1064039</li><li>rs28939068</li>	2
P01036	1472	<ul><li>D->N at 36: in dbSNP:rs3210291<li>T->N at 77: in a breast cancer sample; somatic mutation</ul>									rs3210291	2
P01037	1469	<ul><li>H->Y at 4: in dbSNP:rs6076122<li>P->L at 31: in dbSNP:rs2070856<li>N->D at 129: in dbSNP:rs3188319<li>R->M at 131: in dbSNP:rs3188320<li>K->N at 135: in dbSNP:rs3188322</ul>									<li>rs3188319</li><li>rs6076122</li><li>rs2070856</li><li>rs3188322</li><li>rs3188320</li>	2
P01040	1475	<ul><li>Missing  at 1: in some forms<li>T->M at 96: in dbSNP:rs34173813</ul>									rs34173813	2
P01042	3827	<ul><li>G->S at 163: in dbSNP:rs5030015<li>M->T at 178: in dbSNP:rs1656922<li>I->M at 197: in dbSNP:rs2304456<li>L->P at 212: in dbSNP:rs5030024<li>Missing  at 378-380: in T-kinin peptide<li>D->E at 430: in dbSNP:rs5030084<li>I->T at 581: in dbSNP:rs710446<li>G->A at 642: in dbSNP:rs5030087</ul>									<li>rs5030015</li><li>rs5030087</li><li>rs710446</li><li>rs2304456</li><li>rs5030084</li><li>rs5030024</li><li>rs1656922</li>	2
P01106	4609	<ul><li>N->S at 11: in dbSNP:rs4645959<li>G->C at 160: in dbSNP:rs4645960<li>V->I at 170: in dbSNP:rs4645961<li>A->V at 322: in dbSNP:rs4645968</ul>									<li>rs4645968</li><li>rs4645961</li><li>rs4645960</li><li>rs4645959</li>	2
P01111	4893	<ul><li>G->C at 12: in leukemia<li>G->R at 13: in colorectal cancer<li>Q->K at 61: in neuroblastoma cell<li>Q->R at 61: in lung carcinoma cell and melanoma; dbSNP:rs11554290</ul>									rs11554290	2
P01112	3265	<ul><li>G->A at 12: in Costello syndrome, MIM: 218040<li>G->C at 12: in Costello syndrome, MIM: 218040<li>G->E at 12: in Costello syndrome, MIM: 218040<li>G->S at 12: in Costello syndrome, OSCC and CMEMS, MIM: 218040<li>G->V at 12: in Costello syndrome, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39, MIM: 218040<li>G->C at 13: in Costello syndrome, MIM: 218040<li>G->D at 13: in Costello syndrome, MIM: 218040<li>Q->K at 22: in CMEMS, MIM: 218040<li>T->I at 58: in Costello syndrome, MIM: 218040<li>Q->K at 61: in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines: in dbSNP rsrs28933406, MIM: 218040<li>Q->L at 61: in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines, MIM: 218040<li>E->K at 63: in CMEMS, MIM: 218040<li>K->R at 117: in Costello syndrome, MIM: 218040<li>A->T at 146: in Costello syndrome, MIM: 218040<li>A->V at 146: in Costello syndrome, MIM: 218040</ul>	GTP hydrolysis	GO:0006184			plasma membrane	GO:0005886	<li>P04049</li><li>Q9P212</li><li>Q5R5M7</li><li>P05625</li>	<li>Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]</li><li>Costello syndrome [MIM:218040]</li>	rs28933406	2
P01116	3845	<ul><li>G->GG at 10: in one individual with AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate<li>G->A at 12: in a colorectal cancer sample; somatic mutation<li>G->C at 12: in lung carcinoma; somatic mutation<li>G->D at 12: in pancreatic carcinoma, stomach cancer and lung carcinoma; somatic mutation<li>G->R at 12: in lung cancer and bladder cancer; somatic mutation<li>G->S at 12: in lung carcinoma and stomach cancer; somatic mutation<li>G->V at 12: in lung carcinoma, pancreatic carcinoma, colon cancer and stomach cancer; somatic mutation<li>G->D at 13: in a breast carcinoma cell line; somatic mutation<li>V->I at 14: in NS3; affects activity and impairs responsiveness to GTPase activating proteins, MIM: 609942<li>P->R at 34: in CFC syndrome, MIM: 115150<li>T->I at 58: in NS3; affects activity and impairs responsiveness to GTPase activating proteins, MIM: 609942<li>A->T at 59: in bladder cancer; somatic mutation, MIM: 609942<li>G->R at 60: in CFC syndrome, MIM: 115150<li>Q->H at 61: in lung carcinoma; dbSNP:rs17851045, MIM: 115150<li>Q->R at 61: in a colorectal cancer sample; somatic mutation, MIM: 115150<li>K->N at 117: in a colorectal cancer sample; somatic mutation, MIM: 115150<li>A->T at 146: in a colorectal cancer sample; somatic mutation, MIM: 115150</ul>			GTPase activity	GO:0003924			<li>P20936</li><li>O71152</li><li>P15775</li><li>O42781</li><li>Q00859</li><li>P15779</li><li>P29076</li><li>P27638</li><li>P03967</li><li>P33277</li><li>Q07152</li><li>Q90056</li><li>P09851</li><li>Q5PEA9</li><li>P74873</li><li>Q04854</li><li>P48423</li><li>P74851</li><li>P50904</li><li>P22126</li><li>P06591</li>	<li>Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]</li><li>Noonan syndrome 3 (NS3) [MIM:609942]</li>	rs17851045	2
P01127	5155	<ul><li>I->V at 88: in dbSNP:rs17565</ul>									rs17565	2
P01130	3949	<ul><li>G->R at 2: in dbSNP:rs5931<li>C->W at 27: in San Francisco<li>C->S at 46: in FH; Japanese patient, MIM: 143890<li>Missing  at 47-48: in Cape Town-1; retards receptor transport from the endoplasmic reticulum to the cell surface, MIM: 143890<li>A->S at 50: in FH; German patient, MIM: 143890<li>C->Y at 52: in Paris-4, MIM: 143890<li>S->P at 56: in FH, MIM: 143890<li>R->C at 78: in FH, MIM: 143890<li>W->G at 87: in French Canadian-4, MIM: 143890<li>C->Y at 89: in FH, MIM: 143890<li>D->G at 90: in London-4, MIM: 143890<li>D->N at 90: in FH, MIM: 143890<li>D->Y at 90: in Durban-1, MIM: 143890<li>Q->E at 92: in FH; Spanish patient, MIM: 143890<li>C->G at 95: in FH; Spanish patient, MIM: 143890<li>E->K at 101: in Lancashire; 6% of American English, MIM: 143890<li>C->R at 109: in Munster-1, MIM: 143890<li>C->R at 116: in FH; Spanish patient, MIM: 143890<li>E->K at 140: in Philippines/Durban-2/Japan, MIM: 143890<li>C->G at 155: in Germany, MIM: 143890<li>C->Y at 160: in FH, MIM: 143890<li>D->H at 168: in Sephardic/Safed; 10% of the Sephardic Jews, MIM: 143890<li>D->N at 168: in FH, MIM: 143890<li>D->Y at 168: in FH; Norwegian patient, MIM: 143890<li>D->H at 172: may contribute to familial hypercholesterolemia, MIM: 143890<li>C->R at 173: in Greece-1, MIM: 143890<li>C->W at 173: in FH; French Canadian patient, MIM: 143890<li>D->N at 175: in Afrikaner-3; 5-10% of Afrikaners, MIM: 143890<li>D->Y at 175: in FH, MIM: 143890<li>S->L at 177: in Puerto Rico, MIM: 143890<li>C->Y at 184: in FH; Glasco, MIM: 143890<li>C->F at 197: in Shreveport, MIM: 143890<li>C->R at 197: in FH; British patient, MIM: 143890<li>C->Y at 197: in El Salvador-1, MIM: 143890<li>Missing  at 218: in Piscataway/Lithuania, MIM: 143890<li>D->G at 221: in Padova, MIM: 143890<li>D->N at 221: in FH; German patient, MIM: 143890<li>D->Y at 221: in FH; Cologne patient, MIM: 143890<li>D->G at 224: in Italy-2, MIM: 143890<li>D->N at 224: in Portugal, MIM: 143890<li>D->V at 224: in FH; Cologne patient, MIM: 143890<li>S->P at 226: in Miami-1, MIM: 143890<li>D->E at 227: in Afrikaner-1/Maine; 65-70% of Afrikaner Americans, MIM: 143890<li>E->CK at 228: in Chieti-3, MIM: 143890<li>E->K at 228: in French Canadian-3/Mexico; 2% of French Canadians, MIM: 143890<li>E->Q at 228: in Tulsa-2, MIM: 143890<li>C->G at 231: in FH; Norwegian patient, MIM: 143890<li>E->K at 240: in Charlotte, MIM: 143890<li>C->F at 248: in Bretagne-1, MIM: 143890<li>C->Y at 248: in FH; British patient, MIM: 143890<li>R->W at 253: may contribute to familial hypercholesterolemia, MIM: 143890<li>D->G at 256: in Nevers, MIM: 143890<li>C->F at 261: in FH; rare mutation; strongly reduced receptor activity, MIM: 143890<li>D->E at 266: in Cincinnati-1, MIM: 143890<li>C->Y at 270: in Miami-2, MIM: 143890<li>C->Y at 276: in FH; Syrian patient, MIM: 143890<li>E->K at 277: in FH; patients from Sweden and La Havana, MIM: 143890<li>S->R at 286: in Greece-2, MIM: 143890<li>E->K at 288: in FH; German patient, MIM: 143890<li>D->A at 301: in FH; Greek patient, MIM: 143890<li>C->W at 302: in FH; Iraki patient, MIM: 143890<li>C->Y at 302: in FH; Spanish patient, MIM: 143890<li>D->E at 304: in Baltimore-1, MIM: 143890<li>D->N at 304: in Denver-2, MIM: 143890<li>S->L at 306: in Amsterdam: in dbSNP rsrs11547917, MIM: 143890<li>C->Y at 313: in FH, MIM: 143890<li>C->F at 318: in Trieste, MIM: 143890<li>C->Y at 318: in Mexico-1; leads to a defect in the intracellular transport of the receptor, MIM: 143890<li>H->Y at 327: in FH, MIM: 143890<li>C->Y at 329: in FH; Chinese patient, MIM: 143890<li>G->S at 335: in Paris-6, MIM: 143890<li>C->S at 338: in FH; Japanese patients, MIM: 143890<li>D->E at 342: in New York-1, MIM: 143890<li>D->N at 342: in FH, MIM: 143890<li>G->S at 343: in Picardie, MIM: 143890<li>R->P at 350: in FH; British patient, MIM: 143890<li>C->Y at 352: in Mexico-2, MIM: 143890<li>D->G at 354: in Munster-2, MIM: 143890<li>D->V at 354: in Oklahoma, MIM: 143890<li>D->Y at 356: in FH, MIM: 143890<li>E->K at 357: in Paris-7, MIM: 143890<li>C->R at 364: in Mexico-3, MIM: 143890<li>Q->R at 366: in FH, MIM: 143890<li>C->R at 368: in FH; French Canadian patient, MIM: 143890<li>C->R at 379: in Naples-1, MIM: 143890<li>C->Y at 379: in FH, MIM: 143890<li>A->T at 391: in dbSNP:rs11669576, MIM: 143890<li>A->D at 399: in FH, MIM: 143890<li>L->H at 401: in Pori, MIM: 143890<li>L->V at 401: in FH, MIM: 143890<li>F->L at 403: in FH; Japanese patient, MIM: 143890<li>R->Q at 406: may contribute to familial hypercholesterolemia, MIM: 143890<li>E->K at 408: in Algeria-1; may contribute to familial hypercholesterolemia, MIM: 143890<li>L->R at 414: in FH; Chinese patient, MIM: 143890<li>R->Q at 416: in FH; German patient, MIM: 143890<li>R->W at 416: in FH, MIM: 143890<li>I->T at 423: in FH; Swedish patient, MIM: 143890<li>V->M at 429: in Afrikaner-2; 20-30% of Afrikaners and 2% of FH Dutch: in dbSNP rsrs28942078, MIM: 143890<li>A->T at 431: in Algeria-2: in dbSNP rsrs28942079, MIM: 143890<li>L->V at 432: in FH; German patient, MIM: 143890<li>D->H at 433: in Osaka-3, MIM: 143890<li>T->K at 434: in Algeria-3, MIM: 143890<li>I->M at 441: in Rouen, MIM: 143890<li>I->N at 441: in Russia-1, MIM: 143890<li>W->C at 443: in North Platt, MIM: 143890<li>V->I at 468: in dbSNP:rs5932, MIM: 143890<li>G->R at 478: in New York-2, MIM: 143890<li>D->H at 482: in FH, MIM: 143890<li>W->R at 483: in FH, MIM: 143890<li>H->R at 485: in Milan, MIM: 143890<li>Missing  at 487: in FH; Norwegian patient, MIM: 143890<li>V->M at 523: in Kuwait: in dbSNP rsrs28942080, MIM: 143890<li>P->S at 526: in Cincinnati-3, MIM: 143890<li>G->D at 546: in Saint Omer: in dbSNP rsrs28942081, MIM: 143890<li>G->D at 549: in Genoa: in dbSNP rsrs28941776, MIM: 143890<li>N->H at 564: in FH; French, German and Danish patients: in dbSNP rsrs28942086, MIM: 143890<li>N->S at 564: in Sicily, MIM: 143890<li>G->V at 565: in Naples-2: in dbSNP rsrs28942082, MIM: 143890<li>L->V at 568: in FH; Japanese patient, MIM: 143890<li>D->N at 579: in Cincinnati-4; less than 2% receptor activity, MIM: 143890<li>G->E at 592: in Sicily, MIM: 143890<li>L->S at 599: in London-5, MIM: 143890<li>P->S at 608: in FH, MIM: 143890<li>R->C at 633: in FH, MIM: 143890<li>P->L at 649: in FH, MIM: 143890<li>C->Y at 667: in French Canadian-2; 5% of French Canadians: in dbSNP rsrs28942083, MIM: 143890<li>C->R at 677: in New York-3, MIM: 143890<li>L->P at 682: in Issoire, MIM: 143890<li>P->L at 685: in Gujerat/Zambia/Belgian/Dutch/Sweden/Japan: in dbSNP rsrs28942084, MIM: 143890<li>P->L at 699: may contribute to familial hypercholesterolemia, MIM: 143890<li>D->E at 700: in FH; Spanish patient, MIM: 143890<li>E->K at 714: in FH; Japanese patient, MIM: 143890<li>T->I at 726: in Paris-9: in dbSNP rsrs45508991, MIM: 143890<li>I->F at 792: in Russia-2, MIM: 143890<li>V->M at 797: in FH; La Havana patient, MIM: 143890<li>Missing  at 799-801: in FH; Danish patient, MIM: 143890<li>R->Q at 814: polymorphism that may contribute to FH; dbSNP:rs5928, MIM: 143890<li>Missing  at 820-822: in FH, MIM: 143890<li>V->I at 827: in New York-5, MIM: 143890<li>Y->C at 828: in J.D.Bari/Syria: in dbSNP rsrs28942085, MIM: 143890<li>G->D at 844: in Turku, MIM: 143890</ul>	<li>transport</li><li>intracellular transport</li>	<li>GO:0006810</li><li>GO:0046907</li>	receptor activity	GO:0004872	<li>endoplasmic reticulum</li><li>cell surface</li>	<li>GO:0005783</li><li>GO:0009928,GO:0009986</li>		Familial hypercholesterolemia (FH) [MIM:143890]	<li>rs5932</li><li>rs45508991</li><li>rs5931</li><li>rs5928</li><li>rs11669576</li><li>rs28942078</li><li>rs28942079</li><li>rs28942085</li><li>rs28942084</li><li>rs11547917</li><li>rs28942086</li><li>rs28942081</li><li>rs28942080</li><li>rs28942083</li><li>rs28942082</li><li>rs28941776</li>	2
P01133	1950	<ul><li>S->R at 16: in dbSNP:rs11568849<li>H->Y at 151: in dbSNP:rs9991664<li>D->H at 257: in dbSNP:rs11568911<li>L->H at 292: in dbSNP:rs35191533<li>R->K at 431: in dbSNP:rs11568943<li>S->R at 638: in dbSNP:rs11568992<li>I->M at 708: in dbSNP rsrs2237051<li>G->R at 723: in dbSNP:rs6413481<li>D->V at 784: in dbSNP:rs11569017<li>M->T at 842: in dbSNP:rs11569046<li>V->E at 920: in dbSNP rsrs4698803<li>D->E at 981: in dbSNP:rs11569086<li>L->F at 1043: in dbSNP:rs11569098<li>P->L at 1070: in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation, MIM: 611718<li>A->G at 1084: in dbSNP:rs11569111, MIM: 611718</ul>							<li>Q9BEA0</li><li>P26224</li><li>Q9BX84</li><li>P55245</li><li>P01132</li><li>P13387</li><li>P01133</li><li>Q95ND4</li><li>P00533</li><li>Q00968</li><li>P07522</li>	Hypomagnesemia type 4 (HOMG4) [MIM:611718]	<li>rs11568849</li><li>rs11569046</li><li>rs11568943</li><li>rs6413481</li><li>rs11569086</li><li>rs11569111</li><li>rs11568992</li><li>rs11568911</li><li>rs11569098</li><li>rs2237051</li><li>rs9991664</li><li>rs4698803</li><li>rs35191533</li><li>rs11569017</li>	2
P01135	7039	<ul><li>V->M at 109: in dbSNP:rs11466259</ul>									rs11466259	2
P01137	7040	<ul><li>L->P at 10: associated with higher bone mineral density and lower frequency of vertebral fractures in Japanese post-menopausal women; dbSNP:rs1800470<li>R->P at 25: in dbSNP:rs1800471<li>Y->H at 81: in CED; leads to TGF-beta-1 intracellular accumulation, MIM: 131300<li>R->C at 218: in CED; higher levels of active TGF-beta-1 in the culture medium; enhances osteoclast formation in vitro, MIM: 131300<li>R->H at 218: in CED, MIM: 131300<li>H->D at 222: in CED; sporadic case; higher levels of active TGF-beta-1 in the culture medium, MIM: 131300<li>C->R at 225: in CED; higher levels of active TGF-beta-1 in the culture medium, MIM: 131300<li>T->I at 263: in dbSNP:rs1800472, MIM: 131300</ul>					intracellular	GO:0005622	<li>P54831</li><li>P07200</li><li>Q9PTQ2</li><li>O93449</li><li>Q38HS2</li><li>P09533</li><li>P17246</li><li>P04202</li><li>P18341</li><li>O19011</li><li>P50414</li><li>P09531</li><li>Q9Z1Y6</li><li>P01137</li><li>P16176</li>	Camurati-Engelmann disease (CED) [MIM:131300]	<li>rs1800471</li><li>rs1800472</li><li>rs1800470</li>	2
P01138	4803	<ul><li>A->V at 35: in dbSNP:rs6330<li>V->M at 72: in dbSNP:rs11466110<li>R->Q at 80: in dbSNP:rs11466111<li>R->W at 221: in HSAN5; dbSNP:rs11466112, MIM: 608654</ul>								Hereditary sensory and autonomic neuropathy type 5 (HSAN5) [MIM:608654]	<li>rs11466110</li><li>rs11466112</li><li>rs11466111</li><li>rs6330</li>	2
P01148	2796	<ul><li>W->S at 16: in dbSNP:rs6185</ul>									rs6185	2
P01160	4878	<ul><li>V->M at 32: in dbSNP:rs5063<li>Missing  at 152-153: in allele 2</ul>									rs5063	2
P01185	551	<ul><li>S->F at 17: in ADNDI, MIM: 125700<li>A->T at 19: in ADNDI; probably causes insufficient processing of precursor, MIM: 125700<li>A->V at 19: in ADNDI, MIM: 125700<li>Y->H at 21: in ADNDI, MIM: 125700<li>P->L at 26: in ARNDI; weakly active, MIM: 125700<li>G->R at 45: in ADNDI, MIM: 125700<li>G->V at 48: in ADNDI, MIM: 125700<li>R->C at 51: in ADNDI, MIM: 125700<li>C->R at 52: in ADNDI, MIM: 125700<li>G->R at 54: in ADNDI, MIM: 125700<li>G->V at 54: in ADNDI, MIM: 125700<li>P->L at 55: in ADNDI, MIM: 125700<li>C->F at 58: in ADNDI, MIM: 125700<li>C->R at 59: in ADNDI, MIM: 125700<li>C->Y at 59: in ADNDI, MIM: 125700<li>V->A at 67: in ADNDI: in dbSNP rsrs28934878, MIM: 125700<li>E->G at 78: in ADNDI, MIM: 125700<li>Missing  at 78: in ADNDI, MIM: 125700<li>L->P at 81: in ADNDI: in dbSNP rsrs5195, MIM: 125700<li>P->L at 82: in dbSNP:rs5195, MIM: 125700<li>S->F at 87: in ADNDI, MIM: 125700<li>G->R at 88: in ADNDI, MIM: 125700<li>G->S at 88: in ADNDI, MIM: 125700<li>C->S at 92: in ADNDI, MIM: 125700<li>C->Y at 92: in ADNDI, MIM: 125700<li>G->W at 93: in ADNDI, MIM: 125700<li>G->C at 96: in ADNDI, MIM: 125700<li>G->D at 96: in ADNDI, MIM: 125700<li>G->V at 96: in ADNDI, MIM: 125700<li>R->C at 97: in ADNDI, MIM: 125700<li>R->P at 97: in ADNDI, MIM: 125700<li>C->G at 98: in ADNDI, MIM: 125700<li>C->S at 98: in ADNDI, MIM: 125700<li>A->P at 99: in ADNDI, MIM: 125700<li>C->F at 104: in ADNDI, MIM: 125700<li>C->G at 104: in ADNDI, MIM: 125700<li>C->R at 105: in ADNDI, MIM: 125700<li>C->Y at 105: in ADNDI, MIM: 125700<li>C->G at 116: in ADNDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle, MIM: 125700<li>C->R at 116: in ADNDI, MIM: 125700<li>C->W at 116: in ADNDI, MIM: 125700<li>G->V at 119: in dbSNP:rs1051744, MIM: 125700</ul>					endoplasmic reticulum	GO:0005783		<li>Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]</li><li>Autosomal recessive neurohypophyseal diabetes insipidus (ARNDI) [MIM:125700]</li>	<li>rs28934878</li><li>rs1051744</li><li>rs5195</li>	2
P01189	5443	<ul><li>S->T at 7<li>S->L at 9<li>P->L at 62: in dbSNP:rs28932471<li>Missing at 97-99<li>D->N at 106<li>P->A at 132: in dbSNP:rs8192606<li>E->G at 214<li>R->G at 236: may confer susceptibility to obesity; reduces the ability to activate melanocortin receptor 4; dbSNP:rs28932472<li>R->Q at 236</ul>							<li>Q0Z8I9</li><li>P70596</li><li>O97504</li><li>Q9GLJ8</li><li>P32245</li><li>Q8HXX3</li><li>P56450</li>		<li>rs28932471</li><li>rs28932472</li><li>rs8192606</li>	2
P01210	5179	<ul><li>T->N at 83: in dbSNP:rs11998459<li>G->D at 247: in dbSNP:rs1800567</ul>									<li>rs11998459</li><li>rs1800567</li>	2
P01225	2488	<ul><li>S->I at 20: in dbSNP:rs6170<li>C->G at 69: in IFSHD; dbSNP:rs5030776, MIM: 229070</ul>								Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]	<li>rs5030776</li><li>rs6170</li>	2
P01229	3972	<ul><li>M->I at 15: in dbSNP:rs34247911<li>A->T at 18: more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775<li>W->R at 28: in dbSNP:rs1800447<li>I->T at 35: in dbSNP:rs34349826<li>Q->R at 74: in hypogonadism; lack of receptor-binding; dbSNP:rs5030773, MIM: 152780<li>G->S at 122: may be implicated in female infertility; dbSNP:rs5030774, MIM: 152780</ul>			receptor-binding	GO:0005102				Hypogonadism [MIM:152780]	<li>rs1800447</li><li>rs34247911</li><li>rs34349826</li><li>rs5030773</li><li>rs5030774</li>	2
P01233	1082	<ul><li>F->L at 4: in dbSNP:rs6516<li>T->A at 18<li>K->R at 22: in dbSNP:rs6518<li>P->M at 24: requires 2 nucleotide substitutions<li>R->W at 28<li>R->H at 30<li>T->I at 35: in dbSNP:rs6515<li>N->D at 97: in dbSNP:rs6519<li>D->A at 137: in gene 6; dbSNP:rs7452<li>S->C at 147</ul>									<li>rs6515</li><li>rs6516</li><li>rs6518</li><li>rs6519</li>	2
P01241	2688	<ul><li>T->A at 3: in IGHD IB; could be a neutral polymorphism; dbSNP:rs2001345, MIM: 262400<li>L->P at 16: in IGHD IB; suppresses secretion, MIM: 262400<li>D->N at 37: in IGHD IB, MIM: 262400<li>R->C at 42: in IGHD IB; reduced secretion, MIM: 262400<li>T->I at 53: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400<li>K->R at 67: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400<li>N->D at 73: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400<li>C->S at 79: in short stature; idiopathic autosomal; affects binding affinity of GH for GHR and the potency of GH to activate the JAK2/STAT5 signaling pathway, MIM: 604271<li>S->F at 97: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400<li>E->K at 100: in IGHD IB, MIM: 262400<li>R->C at 103: in Kowarski syndrome; loss of activity, MIM: 262650<li>S->C at 105: in dbSNP:rs6174, MIM: 262650<li>Q->L at 117: in IGHD IB; reduced secretion, MIM: 262400<li>S->C at 134: in IGHD IB, MIM: 262400<li>S->R at 134: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400<li>V->I at 136: in dbSNP:rs5388, MIM: 262400<li>D->G at 138: in Kowarski syndrome; loss of activity, MIM: 262650<li>T->A at 201: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400<li>I->M at 205: in short stature; idiopathic autosomal, MIM: 604271<li>R->H at 209: in IGHD II, MIM: 173100</ul>	secretion	GO:0046903	<li>JAK</li><li>binding</li>	<li>GO:0004718</li><li>GO:0005488</li>			<li>P35610</li><li>Q7QDU4</li><li>Q90375</li><li>P19941</li><li>P10912</li><li>P42231</li><li>P08457</li><li>O46600</li><li>Q95JF2</li><li>P42229</li><li>Q9TU69</li><li>P79108</li><li>O60674</li><li>Q9JI97</li><li>P79194</li><li>Q95ML5</li><li>Q9XSZ1</li><li>P01880</li><li>Q02092</li><li>P19756</li><li>Q28575</li>	<li>Short stature [MIM:604271]</li><li>Isolated growth hormone deficiency type II (IGHD II) [MIM:173100]</li><li>Kowarski syndrome [MIM:262650]</li><li>Isolated growth hormone deficiency type IB (IGHD IB) [MIM:262400]</li>	<li>rs6174</li><li>rs5388</li><li>rs2001345</li>	2
P01242	2689	<ul><li>R->W at 90: in dbSNP:rs5389</ul>									rs5389	2
P01243	1442	<ul><li>P->A at 3: in CSH2; dbSNP:rs1130686<li>IS->L at 104-105: in CSH2</ul>							<li>P01243</li><li>P19159</li><li>P14059</li>			2
P01258	796	<ul><li>G->R at 2: in dbSNP rsrs34587547<li>D->N at 57: in dbSNP:rs5239<li>E->K at 67: in dbSNP rsrs34164367<li>S->R at 76: in dbSNP:rs5241<li>S->T at 123: in dbSNP rsrs34414857<li>Q->P at 138: in dbSNP:rs13306224</ul>									<li>rs34587547</li><li>rs5241</li><li>rs34164367</li><li>rs13306224</li><li>rs34414857</li><li>rs5239</li>	2
P01266	7038	<ul><li>Q->H at 135: in dbSNP:rs2069546<li>Q->E at 515: in dbSNP:rs180222<li>S->D at 604: requires 2 nucleotide substitutions<li>G->D at 653: in dbSNP:rs2069548<li>S->A at 734: polymorphism associated with AITD3; dbSNP:rs180223<li>P->L at 777: in dbSNP:rs3739274<li>G->R at 815: in dbSNP:rs16904774<li>Q->E at 830: in dbSNP:rs2076737<li>Q->H at 870: in goiter; simple; dbSNP:rs2229843, MIM: 188450<li>Missing at 985, MIM: 188450<li>R->P at 988: in dbSNP:rs16893332, MIM: 188450<li>M->V at 1028: polymorphism associated with AITD3; dbSNP:rs853326, MIM: 188450<li>H->Y at 1043, MIM: 188450<li>I->T at 1059, MIM: 188450<li>L->M at 1063: in dbSNP:rs11992497, MIM: 188450<li>S->L at 1222: in dbSNP:rs12549018, MIM: 188450<li>C->R at 1264: in goiter; autosomal recessive; dbSNP:rs2076738, MIM: 188450<li>D->G at 1312: in dbSNP:rs2069556, MIM: 188450<li>W->R at 1437: in dbSNP:rs2069558, MIM: 188450<li>P->H at 1463, MIM: 188450<li>T->K at 1740: in dbSNP:rs16904791, MIM: 188450<li>D->N at 1838: in dbSNP:rs2069561, MIM: 188450<li>A->T at 1936: in dbSNP:rs2069562, MIM: 188450<li>R->W at 1979: polymorphism associated with AITD3, MIM: 188450<li>C->S at 1996: in goiter; autosomal recessive: in dbSNP rsrs2076739, MIM: 188450<li>R->W at 1999: in dbSNP:rs2076740, MIM: 188450<li>D->E at 2091, MIM: 188450<li>P->L at 2149, MIM: 188450<li>Q->R at 2170: in dbSNP:rs2069565, MIM: 188450<li>R->H at 2242: in dbSNP:rs2069566, MIM: 188450<li>R->H at 2455: in dbSNP:rs2272707, MIM: 188450<li>L->P at 2469: in dbSNP:rs2069568, MIM: 188450<li>W->R at 2501: in dbSNP:rs2069569, MIM: 188450<li>F->L at 2526: in dbSNP:rs12114109, MIM: 188450<li>R->Q at 2530: in dbSNP:rs1133076, MIM: 188450<li>N->S at 2616: in dbSNP:rs10091530, MIM: 188450</ul>								Goiter [MIM:188450]	<li>rs2076739</li><li>rs2076738</li><li>rs2076737</li><li>rs180223</li><li>rs2069562</li><li>rs180222</li><li>rs2069561</li><li>rs2069548</li><li>rs12549018</li><li>rs2069546</li><li>rs16893332</li><li>rs3739274</li><li>rs16904791</li><li>rs2069568</li><li>rs1133076</li><li>rs2069569</li><li>rs16904774</li><li>rs2069565</li><li>rs2069566</li><li>rs2272707</li><li>rs2076740</li><li>rs2229843</li><li>rs853326</li><li>rs10091530</li><li>rs11992497</li><li>rs2069558</li><li>rs12114109</li><li>rs2069556</li>	2
P01270	5741	<ul><li>C->R at 18: in FIH; dominant; leads to inefficient processing of the precursor, MIM: 146200<li>S->P at 23: in FIH; recessive, might lead to inefficient processing of the precursor, MIM: 146200</ul>								Familial isolated hypoparathyroidism (FIH) [MIM:146200]		2
P01275	2641	<ul><li>A->V at 115: in dbSNP:rs5650</ul>									rs5650	2
P01286	2691	<ul><li>Y->C at 32: in dbSNP:rs17787698<li>L->F at 75: in dbSNP:rs4988492</ul>									<li>rs4988492</li><li>rs17787698</li>	2
P01298	5539	<ul><li>E->G at 78: in dbSNP:rs7215698</ul>									rs7215698	2
P01303	4852	<ul><li>L->P at 7: in dbSNP:rs16139<li>L->M at 22: in dbSNP:rs5571</ul>									<li>rs16139</li><li>rs5571</li>	2
P01308	3630	<ul><li>H->D at 34: in familial hyperproinsulinemia; Providence, MIM: 176730<li>F->S at 48: associated with diabetes mellitus type-II; Los-Angeles, MIM: 176730<li>F->L at 49: in Chicago, MIM: 176730<li>R->H at 89: in familial hyperproinsulinemia; impairs posttranslational cleavage: in dbSNP rsrs28933985, MIM: 176730<li>R->L at 89: in familial hyperproinsulinemia; Kyoto, MIM: 176730<li>V->L at 92: in Wakayama, MIM: 176730</ul>								Familial hyperproinsulinemia [MIM:176730]	rs28933985	2
P01343	3479	<ul><li>A->T at 115: in dbSNP:rs17884626</ul>									rs17884626	2
P01344	3481	<ul><li>K->N at 120: in dbSNP:rs14367<li>P->Q at 173: in dbSNP:rs1050342<li>K->N at 180: in dbSNP:rs12993</ul>									<li>rs1050342</li><li>rs12993</li><li>rs14367</li>	2
P01350	2520	<ul><li>R->P at 3: in dbSNP:rs34309618</ul>									rs34309618	2
P01374	4049	<ul><li>C->R at 13: in dbSNP:rs2229094<li>H->P at 51: in dbSNP:rs2229092<li>T->N at 60: in allele TNFB*2; dbSNP:rs1041981<li>T->P at 125: in allele 8.1</ul>							<li>Q9XT48</li><li>Q5TM20</li><li>P61125</li><li>P01374</li><li>P26445</li><li>Q5WR07</li><li>P10154</li><li>Q06600</li><li>Q9JM09</li>		<li>rs2229092</li><li>rs2229094</li><li>rs1041981</li>	2
P01375	7124	<ul><li>P->L at 84: in dbSNP:rs4645843<li>A->T at 94: in dbSNP:rs1800620</ul>									<li>rs1800620</li><li>rs4645843</li>	2
P01562	3439	<ul><li>V->A at 10: in dbSNP:rs1758567<li>A->V at 137: in alpha-1B; dbSNP:rs2230050<li>A->G at 163: in dbSNP:rs33965070</ul>									<li>rs33965070</li><li>rs1758567</li>	2
P01563		<ul><li>K->R at 46: in alpha-2B and alpha-2C<li>H->R at 57: in alpha-2C<li>S->L at 177: in a breast cancer sample; somatic mutation</ul>										2
P01566	3446	<ul><li>G->A at 42: in dbSNP:rs2230853</ul>									rs2230853	2
P01568	3452	<ul><li>L->M at 119: in dbSNP:rs1053885<li>K->E at 179: in dbSNP:rs3750478</ul>									<li>rs3750478</li><li>rs1053885</li>	2
P01571	3451	<ul><li>I->R at 184: in dbSNP:rs9298814</ul>									rs9298814	2
P01574	3456	<ul><li>C->Y at 162: in clone PF526, loss of ability to form the essential disulfide bond, loss of antiviral activity<li>W->C at 164: in a breast cancer sample; somatic mutation</ul>										2
P01579	3458	<ul><li>K->Q at 29<li>R->Q at 160</ul>										2
P01583	3552	<ul><li>R->Q at 85: in dbSNP:rs3783531<li>A->S at 114: in dbSNP:rs17561<li>N->D at 125: in dbSNP:rs17562<li>D->N at 138: in dbSNP:rs3783581<li>D->H at 176: in dbSNP:rs1801715</ul>									<li>rs3783531</li><li>rs3783581</li><li>rs17562</li><li>rs1801715</li><li>rs17561</li>	2
P01588	2056	<ul><li>SL->NF at 131-132: in an hepatocellular carcinoma<li>P->Q at 149: in an hepatocellular carcinoma</ul>										2
P01589	3559	<ul><li>I->T at 272: in dbSNP:rs12722712</ul>									rs12722712	2
P01730	920	<ul><li>K->E at 191: in dbSNP:rs28917504<li>F->S at 227: in dbSNP:rs11064419<li>R->W at 265: in OKT4-negative populations; dbSNP:rs28919570</ul>									<li>rs11064419</li><li>rs28917504</li><li>rs28919570</li>	2
P01732	925	<ul><li>G->S at 111: in CD8 deficiency; prevents CD8 expression, MIM: 608957</ul>								Familial CD8 deficiency (CD8 deficiency) [MIM:608957]		2
P01774		<ul><li>N->D at 54: probably due to deamidation during isolation</ul>										2
P01833	5284	<ul><li>G->S at 365: in dbSNP:rs2275531<li>T->I at 555: in dbSNP:rs7542760<li>A->V at 580: in dbSNP:rs291102</ul>									<li>rs291102</li><li>rs7542760</li><li>rs2275531</li>	2
P01834		<ul><li>V->L at 83: in INV</ul>							<li>Q6JAN1</li><li>Q9Y283</li><li>Q6BJW6</li><li>P27610</li><li>P24133</li>			2
P01842		<ul><li>A->N at 5: in MCG+ marker<li>S->T at 7: in MCG+ marker<li>S->G at 45: in Kern+ marker<li>T->K at 56: in MCG+ marker<li>R->K at 82: in OZ+ marker</ul>										2
P01854		<ul><li>W->C at 43: in allele IGHE*01<li>W->L at 359: possible polymorphism</ul>							P01854			2
P01857		<ul><li>K->R at 97: in G1M<li>D->E at 239: in G1M<li>L->M at 241: in G1M</ul>										2
P01859		<ul><li>S->A at 60: in myeloma proteins TIL and ZIE</ul>							<li>Q9EPQ1</li><li>Q15399</li>			2
P01860		<ul><li>V->B at 214: in ZUC<li>P->L at 221: in OMM<li>Y->F at 226: in ZUC<li>T->A at 269: in OMM<li>S->N at 314: in OMM<li>Missing  at 314: in ZUC<li>F->Y at 366: in OMM</ul>										2
P01871		<ul><li>G->S at 191<li>V->G at 215: in dbSNP:rs12365</ul>									rs12365	2
P01876		<ul><li>E->D at 176: in dbSNP:rs1407</ul>									rs1407	2
P01877		<ul><li>P->S at 93: in A2M<li>P->R at 102: in A2M<li>F->Y at 279: in A2M<li>D->E at 296: in A2M<li>V->I at 326: in A2M<li>V->A at 335: in A2M</ul>							<li>Q7SIH1</li><li>Q5R4N8</li><li>P01023</li>			2
P01889	3106	<ul><li>M->T at 4: in dbSNP:rs1050458<li>V->L at 9: in dbSNP:rs1050462<li>L->V at 17: in dbSNP:rs1131165<li>S->A at 35: in dbSNP:rs1131170<li>V->M at 36: in dbSNP:rs1050486<li>A->T at 65: in dbSNP:rs1050529<li>N->D at 87: in dbSNP:rs1050570<li>AQA->TNT at 93-95: in allele B*0703<li>T->A at 97: in dbSNP:rs1050393<li>S->N at 101: in dbSNP:rs1050388<li>TL->II at 118-119: in allele B*0718<li>S->R at 121: in allele B*0718<li>H->Y at 137: in dbSNP:rs1050379<li>D->N at 138: in allele B*0705 and allele B*0706: in dbSNP rsrs709055<li>R->S at 155: in dbSNP:rs1050654<li>R->D at 180: in allele B*0704; requires 2 nucleotide substitutions<li>E->L at 187: in allele B*0724; requires 2 nucleotide substitutions<li>Y->H at 195: in dbSNP:rs1050696<li>V->I at 306: in allele B*0705; dbSNP:rs1131500<li>A->T at 329: in dbSNP:rs1051488</ul>									<li>rs1051488</li><li>rs1050570</li><li>rs1050696</li><li>rs1131170</li><li>rs1050529</li><li>rs1131500</li><li>rs1050388</li><li>rs1050458</li><li>rs1131165</li><li>rs1050486</li><li>rs1050379</li><li>rs1050393</li><li>rs709055</li><li>rs1050462</li><li>rs1050654</li>	2
P01891		<ul><li>V->M at 36: in allele A*6802<li>RN->EE at 86-87: in allele A*6810<li>Q->H at 94: in allele A*6803, allele A*6804 and allele A*6805<li>T->I at 97: in allele A*6804<li>D->H at 98: in allele A*6805<li>M->R at 121: in allele A*6802<li>S->P at 129: in allele A*6802<li>R->E at 138: in allele A*6806; requires 2 nucleotide substitutions<li>R->H at 138: in allele A*6802<li>D->H at 140: in allele A*6806 and allele A*6807<li>D->V at 140: in allele A*6817<li>D->Y at 140: in allele A*6802<li>H->L at 175: in allele A*6816<li>W->L at 180: in allele A*6808<li>W->Q at 180: in allele A*6809; requires 2 nucleotide substitutions</ul>										2
P01892		<ul><li>F->Y at 33: in allele A*0205, allele A*0206, allele A*0208, allele A*0210 and allele A*0221<li>D->N at 54: in allele A*0221<li>A->G at 65: in allele A*0231<li>Q->R at 67: in allele A*0202, allele A*0205 and allele A*0208<li>K->N at 90: in allele A*0208 and allele A*0220<li>H->Q at 94: in allele A*0234 and allele A*0235<li>T->I at 97: in allele A*0211<li>H->D at 98: in allele A*0211 and allele A*0235<li>V->L at 119: in allele A*0202, allele A*0205, allele A*0208 and allele A*0217<li>R->M at 121: in allele A*0204 and allele A*0217<li>Y->C at 123: in allele A*0207 and allele A*0218<li>Y->F at 123: in allele A*0210 and allele A*0217<li>W->G at 131: in allele A*0210<li>M->K at 162: in allele A*0218<li>A->T at 173: in allele A*0203<li>V->E at 176: in allele A*0203 and allele A*0213<li>L->Q at 180: in allele A*0212, allele A*0213 and allele A*0237<li>L->W at 180: in allele A*0202, allele A*0203, allele A*0205 and allele A*0208<li>T->E at 187: in allele A*0216; requires 2 nucleotide substitutions<li>E->D at 190: in allele A*0236 and allele A*0237<li>W->G at 191: in allele A*0236 and allele A*0237<li>A->E at 260: in allele A*0209</ul>										2
P01903	3122	<ul><li>V->L at 16: in dbSNP:rs16822586<li>V->L at 242: in allele DRA*0102; dbSNP:rs7192</ul>							P40879		<li>rs16822586</li><li>rs7192</li>	2
P01906	3118	<ul><li>V->A at 227: in dbSNP:rs9276436<li>G->D at 247: in dbSNP:rs2071800</ul>									<li>rs2071800</li><li>rs9276436</li>	2
P01907	3117	<ul><li>L->M at 8: in dbSNP:rs1047989<li>A->T at 11: in dbSNP:rs1047992<li>V->M at 17: in dbSNP:rs12722039<li>M->T at 18: in dbSNP:rs12722040<li>D->G at 25: in dbSNP:rs12722042<li>C->Y at 34: in dbSNP:rs1129740<li>F->S at 41: in dbSNP:rs1071630<li>Y->F at 48: in dbSNP:rs12722051<li>T->S at 49: in dbSNP:rs3188011<li>Q->E at 57: in dbSNP:rs10093<li>R->K at 64: in dbSNP:rs36219699<li>R->Q at 70: in dbSNP:rs3207983<li>Y->S at 103: in dbSNP:rs1129808<li>T->I at 130: in dbSNP:rs707952<li>Q->H at 152: in dbSNP:rs707950<li>A->T at 210: in dbSNP:rs9272785<li>A->T at 222: in dbSNP:rs35087390<li>M->V at 230: in dbSNP:rs9260<li>F->L at 238: in dbSNP:rs1048430<li>Q->R at 241: in dbSNP:rs9272793</ul>									<li>rs1047992</li><li>rs12722051</li><li>rs1071630</li><li>rs12722040</li><li>rs36219699</li><li>rs1129808</li><li>rs1048430</li><li>rs12722042</li><li>rs9260</li><li>rs3188011</li><li>rs707950</li><li>rs1129740</li><li>rs12722039</li><li>rs3207983</li><li>rs1047989</li><li>rs10093</li><li>rs35087390</li><li>rs9272793</li><li>rs9272785</li><li>rs707952</li>	2
P01909	3117	<ul><li>M->L at 8: in dbSNP:rs1047989<li>A->T at 11: in dbSNP:rs1047992<li>V->M at 17: in dbSNP:rs12722039<li>M->T at 18: in dbSNP:rs12722040<li>D->G at 25: in dbSNP:rs12722042<li>S->F at 41: in dbSNP:rs1071630<li>Y->F at 48: in dbSNP:rs12722051<li>T->S at 49: in dbSNP:rs3188011<li>Q->E at 57: in dbSNP:rs10093<li>R->K at 64: in dbSNP:rs36219699<li>C->Y at 70: in dbSNP:rs3207983<li>V->D at 73: in dbSNP:rs9272698<li>V->L at 73: in dbSNP:rs12722061<li>R->S at 78: in dbSNP:rs36219345<li>T->R at 86: in dbSNP:rs1048073<li>I->M at 88: in dbSNP:rs1048080<li>L->V at 91: in dbSNP:rs1048085<li>S->Y at 102: in dbSNP:rs1129808<li>I->T at 129: in dbSNP:rs707952<li>H->Q at 151: in dbSNP:rs707950<li>A->T at 209: in dbSNP:rs9272785<li>A->T at 221: in dbSNP:rs35087390<li>V->M at 229: in dbSNP:rs9260<li>F->L at 237: in dbSNP:rs1048430<li>R->Q at 240: in dbSNP:rs9272793</ul>									<li>rs12722061</li><li>rs1071630</li><li>rs12722040</li><li>rs36219699</li><li>rs1129808</li><li>rs1048430</li><li>rs12722042</li><li>rs12722039</li><li>rs3207983</li><li>rs10093</li><li>rs1047989</li><li>rs35087390</li><li>rs9272785</li><li>rs36219345</li><li>rs1047992</li><li>rs12722051</li><li>rs1048080</li><li>rs1048085</li><li>rs3188011</li><li>rs9260</li><li>rs707950</li><li>rs1048073</li><li>rs9272698</li><li>rs9272793</li><li>rs707952</li>	2
P01911	3123	<ul><li>K->R at 5: in dbSNP:rs9270305<li>F->Y at 55: in dbSNP:rs16822516<li>Y->H at 59: in allele DRB1*1503: in dbSNP rsrs11554462<li>I->F at 96: in allele DRB1*1504: in dbSNP rsrs17886918<li>T->N at 106: in dbSNP:rs9269941<li>V->G at 115: in allele DRB1*1502: in dbSNP rsrs17885482<li>G->S at 164: in dbSNP:rs1059633<li>A->T at 169: in dbSNP:rs2308768<li>V->M at 236: in dbSNP:rs2230816<li>T->R at 262: in dbSNP:rs9269744</ul>							Q8IUH3		<li>rs1059633</li><li>rs9269941</li><li>rs17885482</li><li>rs17886918</li><li>rs16822516</li><li>rs9269744</li><li>rs9270305</li><li>rs11554462</li><li>rs2230816</li><li>rs2308768</li>	2
P01912	3126	<ul><li>Y->F at 55: in dbSNP:rs16822516<li>N->T at 106: in dbSNP:rs9269941<li>G->S at 164: in dbSNP:rs1059633<li>T->A at 169: in dbSNP:rs2308768</ul>									<li>rs1059633</li><li>rs9269941</li><li>rs16822516</li><li>rs2308768</li>	2
P01913		<ul><li>H->S at 59: in allele DRB3*0210; requires 2 nucleotide substitutions<li>H->Y at 59: in allele DRB3*0205<li>Y->N at 66: in allele DRB3*0206<li>R->T at 80: in allele DRB3*0209 and allele DRB3*0210<li>D->S at 86: in allele DRB3*0208; requires 2 nucleotide substitutions<li>D->V at 86: in allele DRB3*0207 and allele DRB3*0209<li>Y->S at 89: in allele DRB3*0209<li>L->I at 96: in allele DRB3*0211<li>G->V at 115: in allele DRB3*0201<li>F->V at 193: in allele DRB3*0210 and allele DRB3*0211</ul>										2
P01918		<ul><li>D->G at 167: in allele DQB1*0202</ul>										2
P02042	3045	<ul><li>V->A at 2: in Niigata: in dbSNP rsrs34991152<li>H->L at 3: in Catania<li>H->R at 3: in Sphakia: in dbSNP rsrs35433207<li>T->I at 5: in dbSNP rsrs35406175<li>T->S at 5: in haplotype T11; Kenya<li>A->D at 11: in MUMC/Corleone<li>V->G at 12: in Pylos: in dbSNP rsrs34090605<li>N->K at 13: in NYU: in dbSNP rsrs34313675<li>G->R at 17: in Delta': in dbSNP rsrs34012192<li>V->E at 21: in Roosevelt: in dbSNP rsrs34093840<li>A->E at 23: in Flatbush: in dbSNP rsrs35395083<li>G->D at 25: in Victoria: in dbSNP rsrs34460332<li>G->D at 26: in Yokoshima: in dbSNP rsrs34389944<li>E->D at 27: in Puglia: in dbSNP rsrs34289459<li>A->S at 28: in Yialousa: in dbSNP rsrs35152987<li>P->H at 37: in Metaponto: in dbSNP rsrs34383555<li>E->G at 44: in Agrinio: in dbSNP rsrs36084266<li>E->K at 44: in Melbourne: in dbSNP rsrs35166721<li>D->V at 48: in Parkville: in dbSNP rsrs34977235<li>P->R at 52: in Adria: in dbSNP rsrs34489183<li>N->K at 58: in Campania: in dbSNP rsrs35666685<li>G->R at 70: in Indonesia: in dbSNP rsrs35913713<li>A->G at 71: in Ventimiglia: in dbSNP rsrs63750423<li>L->V at 76: in Grovetown: in dbSNP rsrs34430836<li>F->S at 86: in Etolia: in dbSNP rsrs35633566<li>Q->K at 88: in Montechiaro: in dbSNP rsrs63750674<li>L->V at 89: in Lucania: in dbSNP rsrs34933313<li>E->V at 91: in Honai: in dbSNP rsrs34420481<li>C->G at 94: in Sant' Antioco<li>V->M at 99: in Wrens; unstable: in dbSNP rsrs28933076<li>D->N at 100: in Canada; O: in dbSNP rsrs35329985<li>R->S at 105: in Capri: in dbSNP rsrs34390965<li>R->C at 117: in Corfu/Troodos: in dbSNP rsrs33971270<li>R->H at 117: in Coburg: in dbSNP rsrs34536353<li>N->D at 118: in LiangCheng: in dbSNP rsrs36049174<li>E->V at 122: in Manzanares; unstable: in dbSNP rsrs35790721<li>Q->E at 126: in Zagreb: in dbSNP rsrs36078803<li>V->A at 134: in Ninive: in dbSNP rsrs34802738<li>G->D at 137: in Babinga: in dbSNP rsrs35849348<li>A->V at 141: in Bagheria: in dbSNP rsrs63750461<li>L->P at 142: in Pelendri: in dbSNP rsrs33956485<li>A->D at 143: in Fitzroy: in dbSNP rsrs35848600<li>H->R at 147: in Monreale: in dbSNP rsrs34149886</ul>									<li>rs35633566</li><li>rs34313675</li><li>rs34430836</li><li>rs33971270</li><li>rs35913713</li><li>rs34012192</li><li>rs34991152</li><li>rs63750423</li><li>rs34149886</li><li>rs36049174</li><li>rs35406175</li><li>rs34933313</li><li>rs35790721</li><li>rs34090605</li><li>rs36084266</li><li>rs34977235</li><li>rs63750674</li><li>rs63750461</li><li>rs34460332</li><li>rs34536353</li><li>rs34383555</li><li>rs34802738</li><li>rs35152987</li><li>rs33956485</li><li>rs34389944</li><li>rs34289459</li><li>rs35329985</li><li>rs35166721</li><li>rs34390965</li><li>rs35433207</li><li>rs35395083</li><li>rs35666685</li><li>rs34093840</li><li>rs28933076</li><li>rs36078803</li><li>rs35848600</li><li>rs34420481</li><li>rs34489183</li><li>rs35849348</li>	2
P02144	4151	<ul><li>E->K at 55<li>K->N at 134<li>R->Q at 140<li>R->W at 140</ul>										2
P02452	1277	<ul><li>G->C at 197: mild phenotype; dbSNP:rs8179178<li>P->A at 205<li>G->C at 221: in OI; mild form<li>G->C at 224: in OI-I; mild phenotype, MIM: 166200<li>G->R at 263: in OI-I; mild form, MIM: 166200<li>G->V at 263: in OI; mild form, MIM: 166200<li>G->C at 272: in OI-I, MIM: 166200<li>G->D at 275: in OI-II, MIM: 166210<li>R->C at 312: in EDS1, MIM: 130000<li>G->R at 332: in OI-III; mild to moderate form, MIM: 259420<li>G->R at 350: in OI-III, MIM: 259420<li>G->C at 353: in OI-IV, MIM: 166220<li>G->C at 356: in OI-IV; mild form, MIM: 166220<li>G->C at 383: in OI-IV, MIM: 166220<li>G->C at 389: in OI; moderate form, MIM: 166220<li>G->R at 389: in OI-II, MIM: 166210<li>G->A at 398: in OI-IV, MIM: 166220<li>G->D at 398: in OI-II, MIM: 166210<li>G->C at 401: in OI-IV, MIM: 166220<li>G->C at 404: in OI; moderate form, MIM: 166220<li>G->C at 422: in OI-II, MIM: 166210<li>G->S at 425: in OI-II; lethal form, MIM: 166210<li>G->V at 434: in OI-II, MIM: 166210<li>G->R at 476: in OI-II: in dbSNP rsrs57377812, MIM: 166210<li>G->C at 527: in OI-IV, MIM: 166220<li>G->S at 530: in OI-II/III/IV; mild to lethal form, MIM: 166220<li>G->D at 533: in OI-II, MIM: 166210<li>G->C at 560: in OI-IV, MIM: 166220<li>G->R at 560: in OI-II, MIM: 166210<li>G->S at 560: in OI-IV, MIM: 166220<li>R->H at 564: in dbSNP:rs1800211, MIM: 166220<li>G->R at 569: in OI-II, MIM: 166210<li>G->C at 593: in OI-III/IV, MIM: 166210<li>G->S at 593: in OI-II/III; moderate to lethal form, MIM: 166210<li>G->S at 638: in OI-III/IV, MIM: 166210<li>G->S at 656: in OI-II, MIM: 166210<li>G->C at 701: in OI-IV, MIM: 166220<li>G->C at 704: in OI-III, MIM: 259420<li>G->D at 719: in OI-II, MIM: 166210<li>G->S at 719: in OI-III, MIM: 259420<li>G->R at 728: in OI-II, MIM: 166210<li>G->D at 737: in OI-II, MIM: 166210<li>G->S at 743: in OI-II, MIM: 166210<li>G->V at 743: in OI-II, MIM: 166210<li>G->V at 764: in OI-II, MIM: 166210<li>G->S at 767: in OI-III; severe, MIM: 259420<li>G->S at 776: in OI-II, MIM: 166210<li>G->S at 809: in OI-II, MIM: 166210<li>G->V at 815: in OI-II, MIM: 166210<li>G->S at 821: in OI-III, MIM: 259420<li>P->A at 823: in dbSNP:rs1800214, MIM: 259420<li>G->S at 839: in OI-II; mild to moderate form, MIM: 166210<li>G->R at 842: in OI-II, MIM: 166210<li>G->R at 845: in OI-II, MIM: 166210<li>G->D at 851: in OI-II, MIM: 166210<li>G->S at 866: in OI-III, MIM: 259420<li>G->C at 869: in OI-II, MIM: 166210<li>G->S at 884: in OI-II/III; extremely severe form, MIM: 166210<li>G->C at 896: in OI-II, MIM: 166210<li>G->C at 926: in OI-II, MIM: 166210<li>G->V at 980: in OI-II, MIM: 166210<li>G->S at 1010: in OI-IV, MIM: 166220<li>R->C at 1014: in Caffey disease, MIM: 114000<li>G->A at 1019: in dbSNP:rs1135348, MIM: 114000<li>G->S at 1022: in OI-III; severe form, MIM: 259420<li>G->V at 1022: in OI-II, MIM: 166210<li>G->R at 1025: in OI-II, MIM: 166210<li>G->S at 1040: in OI-II/III; moderate to lethal form, MIM: 166210<li>G->S at 1043: in OI-II, MIM: 166210<li>Missing  at 1046-1048: in OI-II, MIM: 166210<li>G->S at 1049: in OI-III, MIM: 259420<li>G->S at 1058: in OI-IV; mild form, MIM: 166220<li>G->D at 1061: in OI-II, MIM: 166210<li>G->S at 1061: in OI-IV, MIM: 166220<li>A->T at 1075: in dbSNP:rs1800215, MIM: 166220<li>G->S at 1076: in OI-III; severe form, MIM: 259420<li>G->S at 1079: in OI-I/II; mild to moderate form, MIM: 259420<li>G->C at 1082: in OI-II, MIM: 166210<li>G->A at 1088: in OI-II, MIM: 166210<li>G->S at 1091: in OI-II, MIM: 166210<li>G->S at 1100: in OI-II; mild to moderate form, MIM: 166210<li>G->A at 1106: in OI-II, MIM: 166210<li>G->C at 1124: in OI-II, MIM: 166210<li>R->Q at 1141: in dbSNP:rs41316713, MIM: 166210<li>G->S at 1142: in OI-II, MIM: 166210<li>G->S at 1151: in OI-III, MIM: 259420<li>G->V at 1151: in OI-II, MIM: 166210<li>G->R at 1154: in OI-II, MIM: 166210<li>G->C at 1166: in OI-II, MIM: 166210<li>G->D at 1172: in OI-II, MIM: 166210<li>V->I at 1177: in dbSNP:rs41316719, MIM: 166210<li>G->S at 1181: in OI-II, MIM: 166210<li>G->V at 1184: in OI-II, MIM: 166210<li>G->S at 1187: in OI-II/III; extremely severe form, MIM: 166210<li>G->V at 1187: in OI-II, MIM: 166210<li>G->C at 1195: in OI-II; mild form, MIM: 166210<li>S->T at 1251: in dbSNP:rs3205325, MIM: 166210<li>D->H at 1277: in OI-II; impaired pro-alpha chain association, MIM: 166210<li>W->C at 1312: in OI-II, MIM: 166210<li>Missing  at 1337-1338: in OI-II; impaired pro-alpha chain association, MIM: 166210<li>L->R at 1388: in OI-II; impaired pro-alpha chain association, MIM: 166210<li>Q->K at 1391: in dbSNP:rs2586486, MIM: 166210<li>K->N at 1430: in dbSNP:rs1059454, MIM: 166210<li>T->P at 1431: in dbSNP:rs1059454, MIM: 166210<li>T->S at 1434: in dbSNP:rs1800220, MIM: 166210<li>P->R at 1438: in dbSNP:rs17857117, MIM: 166210<li>P->H at 1460: in dbSNP:rs17853657, MIM: 166210<li>L->P at 1464: in OI-III, MIM: 259420</ul>								<li>Osteogenesis imperfecta type I (OI-I) [MIM:166200]</li><li>Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]</li><li>Osteogenesis imperfecta type II (OI-II) [MIM:166210]</li><li>Caffey disease [MIM:114000]</li><li>Osteogenesis imperfecta type IV (OI-IV) [MIM:166220]</li><li>Osteogenesis imperfecta type III (OI-III) [MIM:259420]</li>	<li>rs1800215</li><li>rs41316713</li><li>rs1800220</li><li>rs1800214</li><li>rs41316719</li><li>rs57377812</li><li>rs1800211</li><li>rs1059454</li><li>rs17857117</li><li>rs8179178</li><li>rs1135348</li><li>rs2586486</li><li>rs17853657</li><li>rs3205325</li>	2
P02458	1280	<ul><li>T->S at 9: in dbSNP:rs3803183<li>E->D at 142: in dbSNP:rs34392760<li>P->L at 158: in dbSNP:rs1050861<li>G->D at 267: in WS-II<li>R->C at 275: in spondyloepiphyseal dysplasia; with precocious osteoarthritis<li>Missing  at 302-308: in STL1<li>G->D at 303: in KS; abnormal allele expressed in the cartilage, MIM: 156550<li>G->R at 318: in DRRD, MIM: 609508<li>G->R at 354: in spondylometaphyseal dysplasia; congenital type, MIM: 609508<li>G->R at 375: in SEDC, MIM: 183900<li>G->S at 447: in SEDC, MIM: 183900<li>G->D at 453: in ACG2, MIM: 200610<li>G->V at 453: in ACG2, MIM: 200610<li>G->V at 492: in SEMD, MIM: 184250<li>G->S at 504: in SEMD, MIM: 184250<li>G->D at 510: in ACG2, MIM: 200610<li>G->S at 513: in ACG2, MIM: 200610<li>G->D at 516: in ACGA2, MIM: 200610<li>R->C at 565: in STL1, MIM: 108300<li>T->I at 638: in dbSNP:rs41263847, MIM: 108300<li>L->F at 667: in DRRD, MIM: 609508<li>G->S at 717: in ANFH, MIM: 608805<li>G->V at 717: in ACG2, MIM: 200610<li>R->C at 719: in osteoarthritis with mild chondrodysplasia; also in mild spondyloepiphyseal dysplasia and precocious osteoarthritis, MIM: 604864<li>G->A at 771: in ACG2, MIM: 200610<li>G->D at 771: in ACG2, MIM: 200610<li>G->S at 774: in SEDC and hypochondrogenesis; lethal, MIM: 183900<li>G->R at 780: in ACG2, MIM: 200610<li>G->R at 795: in ACG2, MIM: 200610<li>G->A at 804: in hypochondrogenesis, MIM: 200610<li>G->S at 855: in SEDC, MIM: 183900<li>G->R at 891: in ACG2 and SEDC, MIM: 183900<li>G->E at 894: in ACG2, MIM: 200610<li>G->V at 897: in SEMD, MIM: 184250<li>R->C at 904: in EDMMD, MIM: 132450<li>G->C at 909: in SEMD, MIM: 184250<li>G->D at 948: in ACG2, MIM: 200610<li>G->S at 969: in ACG2, MIM: 200610<li>G->S at 981: in ACG2, MIM: 200610<li>R->C at 989: in SEDC, MIM: 183900<li>R->G at 992: in SEMD, MIM: 184250<li>G->S at 1005: in hypochondrogenesis, MIM: 184250<li>Missing  at 1017-1022: in hypochondrogenesis, MIM: 184250<li>G->V at 1017: in ACG2, MIM: 200610<li>A->T at 1051: in dbSNP:rs41272041, MIM: 200610<li>G->E at 1053: in hypochondrogenesis; lethal, MIM: 200610<li>G->V at 1065: in ACG2, MIM: 200610<li>G->C at 1110: in ACG2, MIM: 200610<li>G->C at 1113: in hypochondrogenesis, MIM: 200610<li>G->R at 1119: in ACG2, MIM: 200610<li>G->S at 1143: in ACG2, MIM: 200610<li>Missing  at 1164-1199: in SEDC, MIM: 200610<li>G->S at 1170: in ANFH and in LCPD, MIM: 608805<li>G->R at 1173: in SEDC, MIM: 183900<li>G->S at 1176: in SEDC, MIM: 183900<li>I->IGPSGKDGANGI at 1184: in SEDC, MIM: 183900<li>G->R at 1188: in ACG2, MIM: 200610<li>G->S at 1197: in SEDC, MIM: 183900<li>Missing  at 1207-1212: in KS, MIM: 183900<li>G->D at 1305: in vitreoretinopathy; with phalangeal epiphyseal dysplasia, MIM: 183900<li>V->I at 1331: in dbSNP:rs12721427, MIM: 183900<li>T->N at 1390: in PLSD-T; phenotype previously considered as achondrogenesis-hypochondrogenesis type 2, MIM: 151210<li>Y->C at 1391: in PLSD-T, MIM: 151210<li>G->S at 1405: in dbSNP:rs2070739, MIM: 151210<li>T->M at 1439: in SEDC, MIM: 183900<li>T->P at 1448: in PLSD-T, MIM: 151210<li>D->H at 1469: in PLSD-T, MIM: 151210<li>Missing  at 1484: in PLSD-T, MIM: 151210<li>C->G at 1485: in PLSD-T, MIM: 151210</ul>							P39932	<li>Osteoarthritis with mild chondrodysplasia [MIM:604864]</li><li>Stickler syndrome type 1 (STL1) [MIM:108300]</li><li>Strudwick type spondyloepimetaphyseal dysplasia (SEMD) [MIM:184250]</li><li>Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]</li><li>Kniest syndrome (KS) [MIM:156550]</li><li>Primary avascular necrosis of femoral head (ANFH) [MIM:608805]</li><li>Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]</li><li>Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]</li><li>Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]</li><li>Achondrogenesis hypochondrogenesis type 2 (ACG2) [MIM:200610]</li>	<li>rs34392760</li><li>rs1050861</li><li>rs41263847</li><li>rs2070739</li><li>rs41272041</li><li>rs12721427</li><li>rs3803183</li>	2
P02461	1281	<ul><li>L->F at 169: in AAA, MIM: 100070<li>G->C at 183: in EDS4, MIM: 130050<li>G->D at 183: in EDS4, MIM: 130050<li>G->S at 183: in EDS4, MIM: 130050<li>G->V at 192: in EDS4, MIM: 130050<li>G->R at 201: in EDS4, MIM: 130050<li>G->D at 204: in EDS4, MIM: 130050<li>G->S at 204: in EDS4, MIM: 130050<li>G->D at 210: in EDS4, MIM: 130050<li>G->C at 219: in EDS4, MIM: 130050<li>G->V at 225: in EDS4, MIM: 130050<li>G->E at 228: in EDS4, MIM: 130050<li>G->R at 240: in EDS4, MIM: 130050<li>G->V at 243: in EDS4, MIM: 130050<li>G->D at 249: in EDS4, MIM: 130050<li>G->V at 249: in EDS4, MIM: 130050<li>G->D at 252: in EDS4, MIM: 130050<li>G->R at 252: in EDS4, MIM: 130050<li>G->V at 252: in EDS4, MIM: 130050<li>G->V at 255: in EDS4, MIM: 130050<li>G->R at 264: in EDS4, MIM: 130050<li>G->V at 267: in EDS4, MIM: 130050<li>G->R at 297: in EDS4, MIM: 130050<li>G->R at 303: in fibromuscular dysplasia and aortic aneurysm, MIM: 130050<li>G->V at 321: in EDS4, MIM: 130050<li>G->D at 327: in EDS4, MIM: 130050<li>G->R at 345: in EDS4, MIM: 130050<li>G->R at 417: in EDS4, MIM: 130050<li>G->S at 420: in a colorectal cancer sample; somatic mutation, MIM: 130050<li>G->R at 444: in EDS4, MIM: 130050<li>G->E at 489: in EDS4, MIM: 130050<li>G->R at 501: in EDS4, MIM: 130050<li>G->V at 519: in EDS4, MIM: 130050<li>G->R at 540: in EDS4, MIM: 130050<li>G->E at 549: in EDS4, MIM: 130050<li>G->E at 552: in EDS4, MIM: 130050<li>G->E at 567: in EDS4, MIM: 130050<li>G->S at 582: in EDS4, MIM: 130050<li>G->D at 588: in EDS4, MIM: 130050<li>P->T at 602: in dbSNP rsrs35795890, MIM: 130050<li>P->L at 635, MIM: 130050<li>G->R at 636: in EDS4, MIM: 130050<li>G->E at 657: in EDS4, MIM: 130050<li>G->D at 660: in EDS4, MIM: 130050<li>G->D at 666: in EDS4, MIM: 130050<li>P->T at 668: in dbSNP:rs1801183, MIM: 130050<li>A->T at 698: in dbSNP:rs1800255, MIM: 130050<li>G->R at 699: in EDS4, MIM: 130050<li>G->R at 726: in EDS4, MIM: 130050<li>G->S at 738: in EDS4, MIM: 130050<li>G->V at 738: in EDS4, MIM: 130050<li>G->V at 744: in EDS4, MIM: 130050<li>G->E at 756: in EDS4, MIM: 130050<li>G->C at 762: in EDS4, MIM: 130050<li>G->R at 786: in AAA, MIM: 100070<li>G->S at 804: in EDS3, MIM: 130020<li>G->R at 828: in EDS4, MIM: 130050<li>G->W at 828: in EDS4, MIM: 130050<li>Missing  at 830-838: in EDS4, MIM: 130050<li>G->C at 852: in EDS4, MIM: 130050<li>G->V at 879: in EDS4, MIM: 130050<li>G->D at 882: in EDS4, MIM: 130050<li>G->D at 900: in EDS4, MIM: 130050<li>G->E at 903: in EDS4, MIM: 130050<li>G->D at 909: in EDS4, MIM: 130050<li>G->V at 909: in EDS4, MIM: 130050<li>G->E at 918: in EDS4, MIM: 130050<li>G->C at 924: in EDS4, MIM: 130050<li>G->R at 936: in EDS4, MIM: 130050<li>G->S at 936: in EDS4, MIM: 130050<li>G->D at 939: in EDS4, MIM: 130050<li>G->E at 942: in EDS4, MIM: 130050<li>G->S at 957: in EDS4; severe variant, MIM: 130050<li>G->V at 960: in EDS4; severe variant, MIM: 130050<li>G->V at 966: in EDS4, MIM: 130050<li>G->A at 972: in EDS4, MIM: 130050<li>G->T at 984: in EDS4; requires 2 nucleotide substitutions, MIM: 130050<li>G->E at 996: in EDS4, MIM: 130050<li>G->R at 999: in EDS4, MIM: 130050<li>G->E at 1011: in EDS4, MIM: 130050<li>G->E at 1014: in EDS4, MIM: 130050<li>G->V at 1032: in EDS4, MIM: 130050<li>G->C at 1035: in EDS4, MIM: 130050<li>G->D at 1044: in EDS4, MIM: 130050<li>G->D at 1050: in EDS4; mild variant, MIM: 130050<li>G->V at 1050: in EDS4, MIM: 130050<li>G->V at 1071: in EDS4, MIM: 130050<li>G->V at 1077: in EDS4, MIM: 130050<li>G->D at 1089: in EDS4, MIM: 130050<li>G->D at 1098: in EDS4, MIM: 130050<li>G->V at 1098: in EDS4, MIM: 130050<li>G->E at 1101: in EDS4, MIM: 130050<li>G->A at 1104: in EDS4, MIM: 130050<li>G->V at 1161: in EDS4, MIM: 130050<li>G->E at 1164: in EDS4, MIM: 130050<li>G->R at 1164: in EDS4, MIM: 130050<li>G->S at 1164: in spondyloepiphyseal dysplasia, MIM: 130050<li>G->V at 1167: in EDS4, MIM: 130050<li>G->D at 1170: in EDS4, MIM: 130050<li>G->V at 1170: in EDS4, MIM: 130050<li>G->E at 1173: in EDS4, MIM: 130050<li>G->R at 1173: in EDS4; Gottron type acrogeria, MIM: 130050<li>G->V at 1176: in EDS4; severe, MIM: 130050<li>G->R at 1179: in EDS4, MIM: 130050<li>G->E at 1182: in EDS4, MIM: 130050<li>G->D at 1185: in EDS4; severe variant, MIM: 130050<li>G->V at 1185: in EDS4, MIM: 130050<li>G->E at 1188: in EDS4; severe variant, MIM: 130050<li>G->R at 1188: in EDS4, MIM: 130050<li>I->V at 1205: in dbSNP:rs2271683, MIM: 130050<li>H->Q at 1353: in dbSNP:rs1516446, MIM: 130050<li>R->C at 1434: in a colorectal cancer sample; somatic mutation, MIM: 130050</ul>								<li>Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020]</li><li>Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]</li><li>Aortic aneurysm abdominal (AAA) [MIM:100070]</li>	<li>rs2271683</li><li>rs35795890</li><li>rs1516446</li><li>rs1800255</li><li>rs1801183</li>	2
P02462	1282	<ul><li>V->L at 7: in dbSNP:rs9515185<li>P->L at 304: in dbSNP:rs34843786<li>G->V at 498: in HANAC, MIM: 611773<li>G->R at 519: in HANAC, MIM: 611773<li>G->E at 528: in HANAC, MIM: 611773<li>T->P at 555: in dbSNP:rs536174, MIM: 611773<li>G->E at 562: in brain small vessel disease with hemorrhage, MIM: 607595<li>G->S at 749: in porencephaly type 1, MIM: 175780<li>G->D at 1130: in porencephaly type 1, MIM: 175780<li>G->R at 1236: in porencephaly type 1, MIM: 175780<li>Q->H at 1334: in dbSNP:rs3742207, MIM: 175780<li>G->R at 1423: in porencephaly type 1, MIM: 175780</ul>								<li>Brain small vessel disease with hemorrhage [MIM:607595]</li><li>Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [MIM:611773]</li><li>Porencephaly type 1 [MIM:175780]</li>	<li>rs34843786</li><li>rs9515185</li><li>rs3742207</li><li>rs536174</li>	2
P02489	1409	<ul><li>R->L at 21: in congenital cataract; associated with macular hypoplasia and a generally hypopigmented fundus<li>R->C at 49: in nuclear cataract; autosomal dominant<li>D->H at 105: in a breast cancer sample; somatic mutation<li>R->C at 116: in zonular central nuclear cataract; reduced chaperone-like activity and increased membrane-binding capacity, MIM: 123580<li>R->H at 116: in congenital cataract; autosomal dominant; reverse phase-high-performance liquid chromatography suggests an increase hydrophobicity of the mutant protein; loss of chaperone activity of the mutant is seen in DL-dithiothreitol-induced insulin aggregation assay; fast protein liquid chromatography purification shows that the mutant protein has increased binding affinity to lysozyme, MIM: 123580</ul>			binding	GO:0005488	membrane	GO:0016020	<li>O64362</li><li>P0C236</li><li>P39046</li><li>P07453</li><li>P21270</li><li>P42633</li><li>P62693</li><li>Q37896</li><li>P51771</li><li>P68243</li><li>P68992</li><li>P62692</li><li>P07540</li><li>P81241</li><li>P81423</li><li>P23472</li><li>P15057</li><li>P23473</li><li>O80288</li><li>P03706</li><li>P33486</li><li>P19386</li><li>P19385</li><li>P68245</li><li>Q9T1X2</li><li>O80292</li><li>P69046</li><li>Q7SID7</li><li>P37715</li><li>P01316</li><li>P13656</li><li>P01314</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P18109</li><li>P12704</li><li>Q27650</li><li>Q9CIT4</li><li>P12708</li><li>P67974</li><li>P67973</li><li>P83673</li><li>P67971</li><li>P01330</li><li>P69048</li><li>P69047</li><li>P82175</li><li>P82174</li><li>P01324</li><li>P09963</li><li>P01320</li><li>Q37875</li><li>P10439</li><li>P68920</li><li>P11187</li><li>P01328</li><li>P68921</li><li>Q9TQY7</li><li>P01340</li><li>P67969</li><li>P68990</li><li>P67968</li><li>P68991</li><li>P27359</li><li>P01336</li><li>P81881</li><li>P68988</li><li>Q9ZXB7</li><li>Q48603</li><li>P13190</li><li>P01334</li><li>P68987</li><li>P01331</li><li>P09477</li><li>P09476</li><li>P68989</li><li>P00720</li>	Zonular central nuclear cataract [MIM:123580, 604219]		2
P02511	1410	<ul><li>S->Y at 41: in dbSNP:rs2234703<li>P->L at 51: in dbSNP:rs2234704<li>R->G at 120: in alpha-B crystallinopathy; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC: in dbSNP rsrs28929489, MIM: 608810</ul>							<li>O12984</li><li>O12988</li><li>O12987</li><li>P68288</li><li>P68289</li><li>Q60HG8</li><li>P02498</li><li>P02497</li><li>P02499</li><li>P62698</li><li>O12991</li><li>O12995</li><li>P02470</li><li>P68283</li><li>P68282</li><li>O93591</li><li>P68281</li><li>P68280</li><li>Q5ENZ0</li><li>P02474</li><li>P68287</li><li>P68286</li><li>P02472</li><li>P68285</li><li>P43320</li><li>P68284</li><li>O73919</li><li>P02509</li><li>P02508</li><li>P02507</li><li>P02506</li><li>P02505</li><li>P02504</li><li>P02503</li><li>P02502</li><li>P07315</li><li>P02501</li><li>P02500</li><li>Q5R9K0</li><li>P02482</li><li>P02483</li><li>P02484</li><li>P02485</li><li>Q9EPF3</li><li>P68406</li><li>P02480</li><li>P68405</li><li>P15990</li><li>P82531</li><li>Q5ENY9</li><li>P82530</li><li>Q91518</li><li>Q91312</li><li>P82533</li><li>Q91517</li><li>Q91311</li><li>P02510</li><li>P02511</li><li>P02512</li><li>P02479</li><li>P41316</li><li>P02476</li><li>P02475</li><li>P02478</li><li>P02477</li><li>P02493</li><li>P02494</li><li>P02492</li><li>P06904</li><li>Q7M2W6</li><li>Q05714</li><li>P02522</li><li>Q05713</li><li>Q05557</li><li>P05811</li><li>P02489</li><li>Q90497</li><li>P02488</li><li>P02487</li><li>P02486</li>	Alpha-B crystallinopathy [MIM:608810]	<li>rs28929489</li><li>rs2234704</li><li>rs2234703</li>	2
P02533	3861	<ul><li>C->Y at 63: in dbSNP:rs6503640<li>A->T at 94: in dbSNP:rs3826550<li>K->N at 116: in WC-EBS: in dbSNP rsrs59271739, MIM: 131800<li>M->I at 119: in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity: in dbSNP rsrs57358989, MIM: 131800<li>M->T at 119: in DM-EBS: in dbSNP rsrs28928893, MIM: 131760<li>M->V at 119: in K-EBS and WC-EBS: in dbSNP rsrs61263401, MIM: 131800<li>Q->R at 120: in DM-EBS: in dbSNP rsrs60993843, MIM: 131760<li>L->F at 122: in DM-EBS and K-EBS: in dbSNP rsrs59110575, MIM: 131900<li>N->K at 123: in DM-EBS, MIM: 131760<li>N->S at 123: in DM-EBS: in dbSNP rsrs60171927, MIM: 131760<li>R->C at 125: in DM-EBS: in dbSNP rsrs60399023, MIM: 131760<li>R->G at 125: in DM-EBS, MIM: 131760<li>R->H at 125: in DM-EBS: in dbSNP rsrs58330629, MIM: 131760<li>R->S at 125: in DM-EBS, MIM: 131760<li>Missing  at 128: in DM-EBS, MIM: 131760<li>Y->D at 129: in DM-EBS, MIM: 131760<li>L->P at 130: in DM-EBS: in dbSNP rsrs57522245, MIM: 131760<li>V->A at 133: in dbSNP:rs642601, MIM: 131760<li>V->L at 133: in WC-EBS and K-EBS: in dbSNP rsrs61027685, MIM: 131800<li>R->P at 134: in K-EBS: in dbSNP rsrs61540016, MIM: 131900<li>L->P at 143: in K-EBS: in dbSNP rsrs61326242, MIM: 131900<li>E->A at 144: in AREBS, MIM: 601001<li>R->C at 148: in WC-EBS: in dbSNP rsrs58378809, MIM: 131800<li>R->P at 211: in WC-EBS: in dbSNP rsrs60589227, MIM: 131800<li>E->K at 215: in dbSNP:rs11551755, MIM: 131800<li>A->D at 247: in K-EBS, MIM: 131900<li>V->M at 270: in WC-EBS: in dbSNP rsrs58560979, MIM: 131800<li>M->R at 272: in K-EBS: in dbSNP rsrs61371557, MIM: 131900<li>M->T at 272: in K-EBS, MIM: 131900<li>D->G at 273: in WC-EBS: in dbSNP rsrs59375065, MIM: 131800<li>A->D at 274: in WC-EBS: in dbSNP rsrs58785777, MIM: 131800<li>Missing  at 375: in WC-EBS, MIM: 131800<li>I->N at 377: in WC-EBS: in dbSNP rsrs61536893, MIM: 131800<li>L->P at 384: in K-EBS: in dbSNP rsrs59629244, MIM: 131900<li>R->C at 388: in WC-EBS: in dbSNP rsrs59966597, MIM: 131800<li>R->H at 388: in WC-EBS: in dbSNP rsrs58645163, MIM: 131800<li>L->M at 408: in WC-EBS: in dbSNP rsrs57200223, MIM: 131800<li>Missing  at 411: in WC-EBS, MIM: 131800<li>A->T at 413: in K-EBS: in dbSNP rsrs59780231, MIM: 131900<li>Y->C at 415: in WC-EBS: in dbSNP rsrs59442925, MIM: 131800<li>Y->H at 415: in K-EBS: in dbSNP rsrs58380626, MIM: 131900<li>R->P at 416: in DM-EBS: in dbSNP rsrs60622724, MIM: 131760<li>R->P at 417: in DM-EBS: in dbSNP rsrs61085704, MIM: 131760<li>L->Q at 419: in DM-EBS: in dbSNP rsrs57364972, MIM: 131760<li>E->K at 422: in WC-EBS: in dbSNP rsrs58762773, MIM: 131800</ul>								<li>Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]</li><li>Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]</li><li>Epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]</li><li>Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]</li>	<li>rs59271739</li><li>rs57200223</li><li>rs60589227</li><li>rs61027685</li><li>rs58560979</li><li>rs58380626</li><li>rs642601</li><li>rs60622724</li><li>rs57358989</li><li>rs11551755</li><li>rs61263401</li><li>rs3826550</li><li>rs61536893</li><li>rs59780231</li><li>rs57364972</li><li>rs61371557</li><li>rs59375065</li><li>rs60993843</li><li>rs61326242</li><li>rs59966597</li><li>rs58330629</li><li>rs28928893</li><li>rs58645163</li><li>rs59629244</li><li>rs59442925</li><li>rs58762773</li><li>rs57522245</li><li>rs61540016</li><li>rs60171927</li><li>rs58378809</li><li>rs60399023</li><li>rs58785777</li><li>rs61085704</li><li>rs6503640</li><li>rs59110575</li>	2
P02538	3853	<ul><li>N->S at 21: in dbSNP:rs17845411<li>G->D at 111: in dbSNP:rs681063<li>Missing  at 171: in PC1<li>F->V at 174: in PC1; dbSNP:rs28933087, MIM: 167200<li>L->R at 469: in PC1: in dbSNP rsrs57052654, MIM: 167200<li>E->K at 472: in PC1: in dbSNP rsrs60554162, MIM: 167200</ul>							<li>P22413</li><li>P28840</li><li>P63239</li><li>Q9GLR1</li><li>P63240</li><li>P29120</li>	Pachyonychia congenita type 1 (PC1) [MIM:167200]	<li>rs681063</li><li>rs60554162</li><li>rs28933087</li><li>rs57052654</li><li>rs17845411</li>	2
P02545	4000	<ul><li>T->I at 10: in an atypical progeroid patient; diagnosed as Seip syndrome: in dbSNP rsrs57077886<li>R->G at 25: in EDMD2: in dbSNP rsrs58327533, MIM: 181350<li>R->P at 25: in EDMD2: in dbSNP rsrs61578124, MIM: 181350<li>R->W at 28: in FPLD2: in dbSNP rsrs59914820, MIM: 151660<li>Missing  at 32: in EDMD2, MIM: 151660<li>E->D at 33: in CMT2; autosomal dominant form: in dbSNP rsrs57966821, MIM: 151660<li>E->G at 33: in EDMD, MIM: 151660<li>L->V at 35: in EDMD2: in dbSNP rsrs56694480, MIM: 181350<li>A->T at 43: in EDMD2: in dbSNP rsrs60446065, MIM: 181350<li>Y->C at 45: in EDMD: in dbSNP rsrs58436778, MIM: 181350<li>R->P at 50: in EDMD: in dbSNP rsrs60695352, MIM: 181350<li>R->S at 50: in EDMD2: in dbSNP rsrs59931416, MIM: 181350<li>A->P at 57: in WRN; atypical; dbSNP:rs28928903, MIM: 277700<li>R->G at 60: in CMD1A and FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs28928900, MIM: 151660<li>R->G at 62: in FPLD2: in dbSNP rsrs56793579, MIM: 151660<li>I->N at 63: in EDMD, MIM: 151660<li>I->S at 63: in EDMD: in dbSNP rsrs57793737, MIM: 151660<li>E->G at 65: in EDMD; unclassified muscular dystrophy, MIM: 151660<li>L->R at 85: in CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs28933090, MIM: 115200<li>R->L at 89: in CMD1A: in dbSNP rsrs59040894, MIM: 115200<li>K->E at 97: in CMD1A: in dbSNP rsrs59065411, MIM: 115200<li>Missing  at 112: in EDMD, MIM: 115200<li>R->L at 133: in LDHCP, MIM: 608056<li>R->P at 133: in EDMD2: in dbSNP rsrs60864230, MIM: 181350<li>L->P at 140: in EDMD, MIM: 181350<li>L->R at 140: in WRN: in dbSNP rsrs60652225, MIM: 277700<li>S->F at 143: in HGPS: in dbSNP rsrs58912633, MIM: 176670<li>S->P at 143: in CMD1A: in dbSNP rsrs61661343, MIM: 115200<li>E->K at 145: in HGPS; atypical: in dbSNP rsrs60310264, MIM: 176670<li>T->P at 150: in EDMD; autosomal dominant form: in dbSNP rsrs58917027, MIM: 176670<li>E->K at 161: in CMD1A: in dbSNP rsrs28933093, MIM: 115200<li>R->Q at 190: in EDMD2, MIM: 181350<li>R->W at 190: in CMD1A: in dbSNP rsrs59026483, MIM: 115200<li>D->G at 192: in CMD1A; dramatically increases the size of intranuclear speckles and reduced their number; this phenotype is only partially reversed by coexpression of the G-192 mutation and wild-type lamin-C; precludes insertion of lamin-C into the nuclear envelope when co-transfected with the G-192 LMNA; G-192 lamin-C expression totally disrupts the SUMO1 pattern: in dbSNP rsrs57045855, MIM: 115200<li>N->K at 195: in CMD1A; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs28933091, MIM: 115200<li>RLQT->S at 196-199: in EDMD2, MIM: 115200<li>E->G at 203: in CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs28933092, MIM: 115200<li>E->K at 203: in CMD1A: in dbSNP rsrs61195471, MIM: 115200<li>Missing  at 208: in LGMD1B, MIM: 115200<li>L->P at 215: in CMD1A: in dbSNP rsrs61295588, MIM: 115200<li>H->P at 222: in EDMD: in dbSNP rsrs58034145, MIM: 115200<li>H->Y at 222: in EDMD; dbSNP:rs28928901, MIM: 115200<li>D->N at 230: in FPLD2: in dbSNP rsrs61214927, MIM: 151660<li>G->E at 232: in EDMD: in dbSNP rsrs57207746, MIM: 151660<li>L->P at 248: in EDMD2: in dbSNP rsrs58850446, MIM: 181350<li>R->Q at 249: in EDMD: in dbSNP rsrs59332535, MIM: 181350<li>K->N at 260: in CMDA1, MIM: 181350<li>Missing  at 261: in EDMD, MIM: 181350<li>Y->C at 267: in EDMD2: in dbSNP rsrs57048196, MIM: 181350<li>Q->P at 294: in EDMD: in dbSNP rsrs61616775, MIM: 181350<li>R->C at 298: in CMT2B1: in dbSNP rsrs59885338, MIM: 605588<li>E->K at 317: in CMD1A: in dbSNP rsrs56816490, MIM: 115200<li>R->Q at 336: in EDMD: in dbSNP rsrs58105277, MIM: 115200<li>R->Q at 343: in EDMD: in dbSNP rsrs61177390, MIM: 115200<li>R->L at 349: in CMD1A: in dbSNP rsrs58789393, MIM: 115200<li>E->K at 358: in EDMD; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; einteracts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs60458016, MIM: 115200<li>M->K at 371: in EDMD; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs59653062, MIM: 115200<li>R->H at 377: in LGMD1B: in dbSNP rsrs61672878, MIM: 159001<li>R->L at 377: in EDMD and LGMD1B, MIM: 159001<li>R->K at 386: in EDMD; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type, MIM: 159001<li>R->C at 399: in FPLD2: in dbSNP rsrs58672172, MIM: 151660<li>R->C at 435: in CMD1A, MIM: 115200<li>D->V at 446: in EDMD2: in dbSNP rsrs58541611, MIM: 181350<li>R->W at 453: in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs58932704, MIM: 181350<li>N->I at 456: in EDMD2: in dbSNP rsrs60992550, MIM: 181350<li>N->K at 456: in EDMD: in dbSNP rsrs61235244, MIM: 181350<li>G->D at 465: in FPLD2: in dbSNP rsrs61282106, MIM: 151660<li>I->T at 469: in EDMD: in dbSNP rsrs57394692, MIM: 151660<li>R->C at 471: in HGPS; dbSNP:rs28928902, MIM: 176670<li>Y->H at 481: in LGMD1B: in dbSNP rsrs57747780, MIM: 159001<li>R->L at 482: in FPLD2, MIM: 151660<li>R->Q at 482: in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs11575937, MIM: 151660<li>R->W at 482: in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs57920071, MIM: 151660<li>K->N at 486: in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs59981161, MIM: 151660<li>W->S at 520: in EDMD; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs58362413, MIM: 151660<li>R->C at 527: in HGPS, MIM: 176670<li>R->H at 527: in MADA, MIM: 248370<li>R->P at 527: in EDMD2 and FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs57520892, MIM: 151660<li>T->K at 528: in EDMD; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs57629361, MIM: 151660<li>T->R at 528: in EDMD2, MIM: 181350<li>A->V at 529: in MADA: in dbSNP rsrs60580541, MIM: 248370<li>L->P at 530: in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs60934003, MIM: 181350<li>R->C at 541: in apical left ventricular aneurysm: in dbSNP rsrs56984562, MIM: 181350<li>R->H at 541: in EDMD2: in dbSNP rsrs61444459, MIM: 181350<li>R->S at 541: in CMD1A; the phenotype is entirely reversed by coexpression of the S-541 mutation and wild-type lamin-C, MIM: 115200<li>K->N at 542: in HGPS: in dbSNP rsrs56673169, MIM: 176670<li>S->L at 573: in CMD1A, FPLD2 and tendinous calcinosis arthropathy and progeroid features: in dbSNP rsrs60890628, MIM: 611618<li>E->V at 578: in an atypical progeroid patient; diagnosed as Werner syndrome: in dbSNP rsrs61224243, MIM: 611618<li>R->H at 582: in FPLD2: in dbSNP rsrs57830985, MIM: 151660<li>G->S at 608: in HGPS: in dbSNP rsrs61064130, MIM: 176670<li>R->H at 624: in EDMD2, MIM: 181350<li>R->C at 644: in an atypical progeroid patient; diagnosed as Hutchinson-Gilford progeria syndrome, MIM: 181350</ul>	localization	GO:0051179			nuclear envelope	GO:0005635	<li>Q2EF74</li><li>Q5R6J4</li><li>Q15013</li><li>Q03427</li><li>P55857</li><li>P14731</li><li>P14732</li><li>P63165</li><li>Q94F87</li><li>Q03252</li><li>Q14191</li><li>P02545</li><li>Q3ZD69</li><li>Q5E9D1</li><li>P20700</li><li>P13648</li><li>P50402</li><li>Q9MZD5</li>	<li>Tendinous calcinosis arthropathy and progeroid features (TCAPF) [MIM:611618]</li><li>Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]</li><li>Generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules (LDHCP) [MIM:608056]</li><li>Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588]</li><li>Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]</li><li>Werner syndrome (WRN) [MIM:277700]</li><li>Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]</li><li>Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]</li><li>Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]</li><li>Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]</li>	<li>rs60864230</li><li>rs58362413</li><li>rs57045855</li><li>rs60890628</li><li>rs57920071</li><li>rs59332535</li><li>rs61064130</li><li>rs11575937</li><li>rs59885338</li><li>rs61214927</li><li>rs61616775</li><li>rs58932704</li><li>rs61295588</li><li>rs59026483</li><li>rs61661343</li><li>rs56816490</li><li>rs60934003</li><li>rs60992550</li><li>rs57629361</li><li>rs60580541</li><li>rs59981161</li><li>rs28933093</li><li>rs56694480</li><li>rs28933090</li><li>rs58327533</li><li>rs28933092</li><li>rs61282106</li><li>rs61578124</li><li>rs28933091</li><li>rs60458016</li><li>rs57048196</li><li>rs61224243</li><li>rs56793579</li><li>rs56984562</li><li>rs57394692</li><li>rs59914820</li><li>rs57966821</li><li>rs61444459</li><li>rs61195471</li><li>rs60652225</li><li>rs57830985</li><li>rs60310264</li><li>rs58672172</li><li>rs56673169</li><li>rs57793737</li><li>rs61177390</li><li>rs58436778</li><li>rs59653062</li><li>rs59065411</li><li>rs61672878</li><li>rs58912633</li><li>rs61235244</li><li>rs60695352</li><li>rs58034145</li><li>rs57520892</li><li>rs57207746</li><li>rs58789393</li><li>rs59931416</li><li>rs57747780</li><li>rs60446065</li><li>rs58850446</li><li>rs59040894</li><li>rs28928903</li><li>rs58541611</li><li>rs28928901</li><li>rs28928902</li><li>rs58917027</li><li>rs57077886</li><li>rs28928900</li><li>rs58105277</li>	2
P02549	6708	<ul><li>I->S at 24: in EL2; Lograno, MIM: 182860<li>R->C at 28: in EL2: in dbSNP rsrs28934005, MIM: 182860<li>R->H at 28: in EL2; Corbeil: in dbSNP rsrs28934004, MIM: 182860<li>R->L at 28: in EL2: in dbSNP rsrs28934004, MIM: 182860<li>R->S at 28: in EL2: in dbSNP rsrs28934005, MIM: 182860<li>V->A at 31: in EL2; Marseille, MIM: 182860<li>R->W at 34: in EL2; Genova, MIM: 182860<li>R->W at 41: in EL2; Tunis, MIM: 182860<li>R->S at 45: in EL2; Clichy, MIM: 182860<li>R->T at 45: in EL2; Anastasia, MIM: 182860<li>G->V at 46: in EL2; Culoz, MIM: 182860<li>K->R at 48: in HPP, MIM: 266140<li>L->F at 49: in EL2; Lyon, MIM: 182860<li>S->F at 109: in dbSNP:rs3737521, MIM: 182860<li>G->D at 151: in EL2; Ponte de Sor, MIM: 182860<li>D->N at 152: in dbSNP:rs16840544, MIM: 182860<li>L->LL at 154: in EL2, MIM: 182860<li>L->P at 207: in EL2 and HPP; Saint-Louis, MIM: 266140<li>L->P at 260: in EL2; Nigerian, MIM: 182860<li>S->P at 261: in EL2, MIM: 182860<li>H->P at 469: in EL2; Barcelona, MIM: 182860<li>Missing  at 469: in EL2; Alexandria, MIM: 182860<li>Q->P at 471: in EL2, MIM: 182860<li>R->H at 701: in dbSNP:rs12090314, MIM: 182860<li>A->T at 766: in dbSNP:rs11265047, MIM: 182860<li>D->E at 791: in EL2; Jendouba; dbSNP:rs7418956, MIM: 182860<li>I->V at 809: in dbSNP:rs7547313, MIM: 182860<li>T->R at 853: in dbSNP:rs35121052, MIM: 182860<li>A->V at 957: in dbSNP:rs34706737, MIM: 182860<li>A->D at 970: in dbSNP:rs35948326, MIM: 182860<li>A->S at 1163: in dbSNP:rs2482965, MIM: 182860<li>R->I at 1330: in dbSNP:rs34214405, MIM: 182860<li>R->C at 1568: in dbSNP:rs863931, MIM: 182860<li>L->V at 1857: in dbSNP rsrs3737515, MIM: 182860<li>A->G at 2024: in Cagliari, MIM: 182860</ul>							<li>Q9SYZ0</li><li>P29082</li>	<li>Elliptocytosis type 2 (EL2) [MIM:182860]</li><li>Hereditary pyropoikilocytosis (HPP) [MIM:266140]</li>	<li>rs863931</li><li>rs12090314</li><li>rs28934005</li><li>rs28934004</li><li>rs3737515</li><li>rs2482965</li><li>rs3737521</li><li>rs16840544</li><li>rs34214405</li><li>rs7418956</li><li>rs35121052</li><li>rs34706737</li><li>rs11265047</li><li>rs7547313</li><li>rs35948326</li>	2
P02647	335	<ul><li>P->H at 27: in Munster-3C<li>P->R at 27<li>P->R at 28: in Munster-3B<li>R->L at 34: in Baltimore: in dbSNP rsrs28929476<li>G->R at 50: in AMYLIOWA: in dbSNP rsrs28931574, MIM: 107680<li>A->T at 61: in dbSNP rsrs12718465, MIM: 107680<li>L->R at 84: in AMYL8, MIM: 105200<li>T->I at 92, MIM: 105200<li>D->E at 113, MIM: 105200<li>A->D at 119: in Hita, MIM: 105200<li>D->H at 126: in dbSNP:rs5077, MIM: 105200<li>D->N at 127: in Munster-3A, MIM: 105200<li>K->M at 131: in dbSNP:rs4882, MIM: 105200<li>Missing  at 131: in Marburg/Munster-2, MIM: 105200<li>W->R at 132: in Tsushima, MIM: 105200<li>E->K at 134: in Fukuoka, MIM: 105200<li>E->K at 160: in Norway, MIM: 105200<li>E->G at 163, MIM: 105200<li>P->R at 167: in Giessen, MIM: 105200<li>L->R at 168: in Zaragoza, MIM: 105200<li>E->V at 171, MIM: 105200<li>V->E at 180: in Oita; 60% of normal apoA-I and normal HDL cholesterol levels. Rapidly cleared from plasma, MIM: 105200<li>R->P at 184: in dbSNP:rs5078, MIM: 105200<li>P->R at 189, MIM: 105200<li>R->C at 197: in Milano; associated with decreased HDL levels and moderate increases in triglycerides; no evidence of association with premature vascular disease: in dbSNP rsrs28931573, MIM: 105200<li>E->K at 222: in Munster-4, MIM: 105200</ul>							<li>P09809</li><li>P27007</li><li>P68292</li><li>P18647</li><li>P18648</li><li>P68293</li><li>O42363</li><li>Q9Z2L4</li><li>P02648</li><li>P15497</li><li>O42175</li><li>P32918</li><li>O18759</li><li>P08250</li><li>Q91488</li><li>P02647</li><li>Q00623</li><li>P04639</li><li>O42296</li>	<li>Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) [MIM:107680]</li><li>Amyloidosis type 8 (AMYL8) [MIM:105200]</li>	<li>rs28931574</li><li>rs5078</li><li>rs28931573</li><li>rs5077</li><li>rs28929476</li><li>rs4882</li><li>rs12718465</li>	2
P02649	348	<ul><li>E->K at 21: in isoform E5; associated with hyperlipoproteinemia and atherosclerosis<li>E->K at 31: in hyperlipoproteinemia type III; isoforms E4 Philadelphia and isoform E5-type; only isoform E4 Philadelphia is disease-linked, MIM: 107741<li>R->C at 43: in LPG; isoform E2 Kyoto, MIM: 611771<li>L->P at 46: in isoform E4 Freiburg; dbSNP:rs769452, MIM: 611771<li>T->A at 60: in isoform E3 Freiburg; dbSNP:rs28931576, MIM: 611771<li>Q->H at 64, MIM: 611771<li>Q->K at 99: in isoform E5 Frankfurt, MIM: 611771<li>P->R at 102: in isoform E5-type; no hyperlipidemia; dbSNP:rs28931578: in dbSNP rsrs11083750, MIM: 611771<li>A->T at 117: in isoform E3*; dbSNP:rs28931577, MIM: 611771<li>A->V at 124: in isoform E3 Basel, MIM: 611771<li>C->R at 130: in hyperlipoproteinemia type III; isoform E3**, isoform E4, isoform E4/3 and some isoforms E5-type; only isoform E3** is disease-linked; dbSNP:rs429358, MIM: 107741<li>G->D at 145: in isoform E1 Weisgraber, MIM: 107741<li>G->GEVQAMLG at 145: in hyperlipoproteinemia type III; isoform E3 Leiden, MIM: 107741<li>R->Q at 152: in isoform E2-type; no hyperlipidemia: in dbSNP rsrs28931578, MIM: 107741<li>R->C at 154: in hyperlipoproteinemia type III; isoform E2-type, MIM: 107741<li>R->S at 154: in hyperlipoproteinemia type III; isoform E2 Christchurch, MIM: 107741<li>R->C at 160: in hyperlipoproteinemia type III; isoform E3**, MIM: 107741<li>R->C at 163: in hyperlipoproteinemia type III; isoform E4 Philadelphia and isoform E2-type; only isoform E4 Philadelphia is disease-linked; dbSNP:rs769455, MIM: 107741<li>R->H at 163: in E3 Kochi, MIM: 107741<li>R->P at 163: in LPG; isoform E2 Sendai, MIM: 611771<li>K->E at 164: in hyperlipoproteinemia type III; isoform E1 Harrisburg, MIM: 107741<li>K->Q at 164: in hyperlipoproteinemia type III; isoform E2**, MIM: 107741<li>Missing  at 167: in sea-blue histiocyte disease, MIM: 107741<li>A->P at 170: in isoform E3*, MIM: 107741<li>R->C at 176: in hyperlipoproteinemia type III; isoforms E1 Weisgraber, isoform E2 and isoform E3**; dbSNP:rs7412, MIM: 107741<li>R->Q at 242: in isoform E2 Fukuoka, MIM: 107741<li>R->C at 246: in isoform E2 Dunedin, MIM: 107741<li>V->E at 254: in isoform E2 W.G., MIM: 107741<li>EE->KK at 262-263: in hyperlipoproteinemia type III; isoform E7 Suita, MIM: 107741<li>R->G at 269: in isoform E3 H.B. and isoform E4/3, MIM: 107741<li>L->E at 270: in isoform E1 H.E.; requires 2 nucleotide substitutions, MIM: 107741<li>R->H at 292: in isoform E4 P.D., MIM: 107741<li>S->R at 314: in isoform E4 H.G.; dbSNP:rs28931579, MIM: 107741</ul>			<li>E1</li><li>E2</li>	<li>GO:0004839</li><li>GO:0004840</li>				<li>Lipoprotein glomerulopathy (LPG) [MIM:611771]</li><li>Hyperlipoproteinemia type III [MIM:107741]</li>	<li>rs11083750</li><li>rs28931578</li><li>rs28931579</li><li>rs28931576</li><li>rs28931577</li><li>rs429358</li><li>rs769455</li><li>rs769452</li><li>rs7412</li>	2
P02654	341	<ul><li>I->M at 16: in dbSNP:rs5112<li>T->S at 71: polymorphism found only in persons of American Indian or Mexican ancestry; more susceptible to N-terminal truncation and shows greater distribution to the VLDL than the protein with T-71</ul>									rs5112	2
P02655	344	<ul><li>K->T at 41<li>W->R at 48: in hyperlipoproteinemia type IB; variant Wakayama, MIM: 207750<li>E->K at 60: in San Francisco; found in hyperlipidemic patients; dbSNP:rs5122, MIM: 207750<li>K->Q at 77: in Africa; dbSNP:rs5126, MIM: 207750</ul>								Hyperlipoproteinemia type IB [MIM:207750]	<li>rs5126</li><li>rs5122</li>	2
P02656	345	<ul><li>K->E at 78: in hyperalphalipoproteinemia, MIM: 143470<li>T->A at 94: in C-III-0; unglycosylated, MIM: 143470</ul>								Hyperalphalipoproteinemia [MIM:143470]		2
P02671	2243	<ul><li>I->V at 6: in dbSNP:rs2070025<li>D->N at 26: in Lille-1<li>G->V at 31: in Rouen-1<li>R->C at 35<li>R->H at 35<li>P->L at 37: in Kyoto-2<li>R->G at 38: in Aarhus-1<li>R->N at 38: in Munich-1; requires 2 nucleotide substitutions<li>R->S at 38: in Detroit-1<li>V->D at 39: in Canterbury<li>S->T at 66<li>R->S at 160: in Lima<li>T->A at 331: in dbSNP:rs6050<li>K->E at 446: in dbSNP:rs6052<li>S->N at 453: in Caracas-2<li>T->A at 456: in dbSNP:rs2070031<li>E->V at 545: in AMYL8, MIM: 105200<li>R->C at 573: in Dusart/Paris-5, MIM: 105200<li>R->L at 573: in AMYL8, MIM: 105200</ul>								Amyloidois type 8 (AMYL8) [MIM:105200]	<li>rs6050</li><li>rs2070031</li><li>rs2070025</li><li>rs6052</li>	2
P02675	2244	<ul><li>K->E at 2: in dbSNP:rs6053<li>Missing  at 39-102: in New York-1<li>R->C at 44: in Christchurch-2, Seattle-1 and Ijmuiden<li>G->R at 45: in Ise<li>R->C at 74: in Nijmegen<li>A->T at 98: in Naples and Milano-2; associated with defective thrombin binding and thrombophilia<li>P->S at 100: in dbSNP:rs2227434<li>N->H at 170: in dbSNP:rs2227409<li>R->C at 196: in congenital afibrinogenemia; variant Longmont, MIM: 202400<li>P->L at 265: in dbSNP:rs6054, MIM: 202400<li>A->T at 365: in Pontoise-2, MIM: 202400<li>L->R at 383: in congenital afibrinogenemia; abolishes fibrinogen secretion, MIM: 202400<li>G->D at 430: in congenital afibrinogenemia; abolishes fibrinogen secretion, MIM: 202400<li>R->K at 478: in Baltimore-2; dbSNP:rs4220, MIM: 202400</ul>	secretion	GO:0046903	binding	GO:0005488			<li>P84122</li><li>P22775</li><li>P81070</li>	Congenital afibrinogenemia [MIM:202400]	<li>rs4220</li><li>rs6054</li><li>rs6053</li><li>rs2227409</li><li>rs2227434</li>	2
P02679	2266	<ul><li>E->G at 77: in dbSNP:rs11551835<li>Y->H at 140: in dbSNP:rs2066870<li>G->R at 191: in Milano-12; dbSNP:rs6063<li>R->C at 301: in Tochigi/Osaka-2/Milano-5/Villajoyosa<li>R->H at 301: in Bergamo-2/Essen/Haifa/Osaka-3/Perugia/Saga/Barcelona-3/Barcelona-4<li>G->V at 318: in Baltimore-1; impaired polymerization<li>N->I at 334: in Baltimore-3; impaired polymerization<li>N->K at 334: in Kyoto-1; causes accelerated cleavage by plasmin<li>G->D at 335: in Hillsborough; prolonged thrombin clotting time<li>M->T at 336: in Asahi; impaired polymerization<li>Missing  at 345-346: in Vlissingen; defective calcium binding and impaired polymerization<li>Q->R at 355: in Nagoya-1; impaired polymerization<li>D->V at 356: in Milano-1; impaired polymerization<li>D->Y at 356: in Kyoto-3; impaired polymerization<li>N->K at 363: in Bern-1; impaired polymerization<li>G->VMCGEALPMLKD at 377: in Paris-1; impaired polymerization<li>S->C at 384: in Milano-7; impaired polymerization<li>R->G at 401: in Osaka-5<li>M->V at 410: in dbSNP:rs6061</ul>	clotting	GO:0050817	binding	GO:0005488			P84122		<li>rs6061</li><li>rs6063</li><li>rs2066870</li><li>rs11551835</li>	2
P02708	1134	<ul><li>V->L at 177: in FCCMS; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2-fold decrease in gating efficiency, MIM: 608930<li>G->S at 198: in SCCMS, MIM: 601462<li>V->M at 201: in SCCMS, MIM: 601462<li>R->L at 254: in lethal type multiple pterygium syndrome, MIM: 253290<li>N->K at 262: in SCCMS, MIM: 601462<li>F->V at 278: in FCCMS; markedly reduced protein expression, MIM: 608930<li>V->F at 294: in SCCMS; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization, MIM: 601462<li>T->I at 299: in SCCMS, MIM: 601462<li>F->L at 301: in FCCMS; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate, MIM: 608930<li>S->I at 314: in SCCMS, MIM: 601462<li>V->I at 330: in FCCMS; abnormally slow channel opening and closing resulting in abnormally brief current, MIM: 608930<li>D->V at 383: in dbSNP:rs6739001, MIM: 608930<li>C->W at 463: in SCCMS; increases the rate of channel opening and slows the rate of channel closing but has no effect on agonist binding, MIM: 601462</ul>			binding	GO:0005488				<li>Lethal type multiple pterygium syndrome [MIM:253290]</li><li>Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]</li><li>Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]</li>	rs6739001	2
P02724	2993	<ul><li>S->L at 20: determines blood group M: in dbSNP rsrs7682260<li>G->E at 24: determines blood group N: in dbSNP rsrs7687256</ul>									<li>rs7682260</li><li>rs7687256</li>	2
P02730	6521	<ul><li>D->A at 38: in dbSNP:rs5035<li>E->K at 40: in hemolytic anemia; Montefiore; dbSNP:rs45562031<li>D->E at 45: in dbSNP:rs34700496<li>K->E at 56: in Memphis; dbSNP:rs5036<li>E->K at 68: in dbSNP:rs13306787<li>L->M at 73<li>E->K at 90: in HS; Cape Town; dbSNP:rs28929480, MIM: 109270<li>R->S at 112: in dbSNP:rs5037, MIM: 109270<li>G->R at 130: in HS; Fukoka, MIM: 109270<li>P->S at 147: in HS; Mondego, MIM: 109270<li>A->D at 285: in HS; Boston, MIM: 109270<li>P->R at 327: in HS; Tuscaloosa; dbSNP:rs28931583, MIM: 109270<li>Missing  at 400-408: in EL4, MIM: 109270<li>R->W at 432: in ELO antigen, MIM: 109270<li>I->F at 442: in dbSNP:rs5018, MIM: 109270<li>G->E at 455: in HS; Benesov, MIM: 109270<li>E->K at 480: in FR, MIM: 109270<li>V->M at 488: in HS; Coimbra; also in dRTA autosomal recessive form; dbSNP:rs28931584, MIM: 109270<li>R->C at 490: in HS; Bicetre I, MIM: 109270<li>E->K at 508: in dbSNP:rs45568837, MIM: 109270<li>R->C at 518: in HS; Dresden, MIM: 109270<li>P->L at 548: in RB, MIM: 109270<li>K->N at 551: in TR, MIM: 109270<li>T->I at 552: in WARR antigen, MIM: 109270<li>Y->H at 555: in VG, MIM: 109270<li>V->M at 557: in WD, MIM: 109270<li>P->S at 561: in BOW antigen, MIM: 109270<li>G->A at 565: in WU antigen, MIM: 109270<li>P->A at 566: in KREP antigen, MIM: 109270<li>P->S at 566: in PN, MIM: 109270<li>N->K at 569: in BP, MIM: 109270<li>M->L at 586: in dbSNP:rs5019, MIM: 109270<li>R->C at 589: in dRTA; autosomal dominant form; reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain, MIM: 611590<li>R->H at 589: in dRTA; autosomal dominant form, MIM: 611590<li>R->S at 589: in dRTA; autosomal dominant form, MIM: 611590<li>R->P at 602: in dRTA; autosomal recessive form; with hemolytic anemia, MIM: 611590<li>S->F at 613: in dRTA; autosomal dominant form; markedly increased red cell sulfate transport but almost normal red cell iodide transport, MIM: 611590<li>R->Q at 646: in SW, MIM: 611590<li>R->W at 646: in SW, MIM: 611590<li>R->C at 656: in HG, MIM: 611590<li>R->H at 656: in MO, MIM: 611590<li>E->K at 658: in WR, MIM: 611590<li>Missing  at 663: in HS; Osnabruck II, MIM: 611590<li>L->P at 687: in HS, MIM: 109270<li>I->V at 688: in dbSNP:rs5022, MIM: 109270<li>S->G at 690: in dbSNP:rs5023, MIM: 109270<li>G->D at 701: in dRTA; autosomal recessive form, MIM: 611590<li>D->Y at 705: in HS, MIM: 109270<li>L->P at 707: in HS; Most, MIM: 109270<li>G->R at 714: in HS; Okinawa, MIM: 109270<li>S->P at 731: in HS, MIM: 109270<li>H->R at 734: in HS, MIM: 109270<li>R->Q at 760: in HS; Prague II, MIM: 109270<li>R->W at 760: in HS; Hradec Kralove, MIM: 109270<li>G->D at 771: in HS; Chur, MIM: 109270<li>S->P at 773: in dRTA; autosomal recessive form; with normal red cell morphology, MIM: 611590<li>I->N at 783: in HS; Napoli II, MIM: 109270<li>R->C at 808: in HS; Jablonec, MIM: 109270<li>R->H at 808: in HS; Nara, MIM: 109270<li>R->H at 832: in dbSNP:rs5025, MIM: 109270<li>H->P at 834: in HS; Birmingham, MIM: 109270<li>T->A at 837: in HS; Tokyo, MIM: 109270<li>T->M at 837: in HS; Philadelphia, MIM: 109270<li>Missing  at 850: in dRTA; autosomal recessive form, MIM: 109270<li>P->L at 854: in Di: in dbSNP rsrs2285644, MIM: 109270<li>A->D at 858: in dRTA; autosomal dominant form, MIM: 611590<li>V->I at 862: in dbSNP:rs5026, MIM: 611590<li>P->L at 868: in HS; HT, MIM: 109270<li>R->W at 870: in HS; Prague III; dbSNP:rs28931585, MIM: 109270</ul>	<li>sulfate transport</li><li>iodide transport</li>	<li>GO:0008272</li><li>GO:0015705</li>					Q570B4	<li>Hereditary spherocytosis (HS) [MIM:109270]</li><li>Autosomal dominant distal renal tubular acidosis (dRTA) [MIM:179800]</li><li>Autosomal recessive distal renal tubular acidosis (dRTA) [MIM:611590]</li>	<li>rs2285644</li><li>rs28931583</li><li>rs5025</li><li>rs28931584</li><li>rs45568837</li><li>rs28931585</li><li>rs5035</li><li>rs5022</li><li>rs5023</li><li>rs5036</li><li>rs13306787</li><li>rs28929480</li><li>rs34700496</li><li>rs45562031</li><li>rs5037</li><li>rs5018</li><li>rs5026</li><li>rs5019</li>	2
P02735	6288	<ul><li>G->S at 15: in dbSNP:rs712021<li>V->A at 70: in 2-alpha, 2-beta, 1-beta and 1-gamma: in dbSNP rsrs1136743<li>A->V at 75: in 2-alpha, 2-beta and 1-beta: in dbSNP rsrs1136747<li>D->N at 78: in 2-alpha and 2-beta<li>FF->LT at 86-87: in 2-alpha and 2-beta<li>H->R at 89: in 2-beta: in dbSNP rsrs2229338<li>G->D at 90: in 1-beta<li>E->K at 102: in 2-alpha and 2-beta: in dbSNP rsrs1059567<li>K->R at 108: in 2-alpha and 2-beta: in dbSNP rsrs1059571</ul>									<li>rs1059567</li><li>rs2229338</li><li>rs1136747</li><li>rs712021</li><li>rs1059571</li><li>rs1136743</li>	2
P02743	325	<ul><li>G->S at 141: in a breast cancer sample; somatic mutation<li>E->G at 155<li>S->G at 158</ul>										2
P02745	712	<ul><li>E->K at 23: in dbSNP:rs17887074</ul>									rs17887074	2
P02746	713	<ul><li>G->D at 40: in C1q deficiency, MIM: 120570<li>A->T at 121: in a breast cancer sample; somatic mutation, MIM: 120570</ul>								C1q deficiency [MIM:120570]		2
P02747	714	<ul><li>G->R at 34: in C1q deficiency, MIM: 120575</ul>								C1q deficiency [MIM:120575]		2
P02748	735	<ul><li>R->W at 5: in dbSNP:rs700233<li>C->G at 119: in C9D, MIM: 120940<li>D->Y at 127: in dbSNP:rs696763, MIM: 120940<li>I->V at 203: in dbSNP:rs13361416, MIM: 120940<li>T->S at 279: in dbSNP:rs34625111, MIM: 120940</ul>								Component C9 deficiency (C9D) [MIM:120940]	<li>rs696763</li><li>rs700233</li><li>rs34625111</li><li>rs13361416</li>	2
P02749	350	<ul><li>V->A at 5: in dbSNP:rs3826358<li>S->N at 107: in allele APOH*1; dbSNP:rs1801692<li>R->H at 154: in dbSNP:rs8178847<li>V->L at 266: in 23% of the population; dbSNP:rs4581<li>C->G at 325: loss of phosphatidylserine-binding; dbSNP:rs1801689<li>W->S at 335: in allele APOH*3W; loss of phosphatidylserine-binding; dbSNP:rs1801690</ul>			phosphatidylserine-binding	GO:0001786			<li>P02749</li><li>Q95LB0</li><li>P33703</li><li>P17690</li>		<li>rs1801692</li><li>rs1801690</li><li>rs1801689</li><li>rs3826358</li><li>rs4581</li><li>rs8178847</li>	2
P02750	116844	<ul><li>G->S at 64: in dbSNP:rs7251081<li>P->S at 133: in dbSNP:rs966384</ul>									<li>rs7251081</li><li>rs966384</li>	2
P02751	2335	<ul><li>Q->L at 15: in dbSNP:rs1250259<li>D->N at 940: in a breast cancer sample; somatic mutation<li>Y->C at 973: in GFND2, MIM: 601894<li>R->P at 1120: in a breast cancer sample; somatic mutation, MIM: 601894<li>W->R at 1834: in GFND2; reduced binding to heparin, endothelial cells and podocytes; impaired capability to induce stress-fiber formation, MIM: 601894<li>L->R at 1883: in GFND2; reduced binding to heparin, endothelial cells and podocytes; impaired capability to induce stress-fiber formation, MIM: 601894<li>I->V at 1960: in dbSNP:rs1250209, MIM: 601894<li>D->N at 2380: in a colorectal cancer sample; somatic mutation, MIM: 601894</ul>			binding	GO:0005488	stress-fiber	GO:0001725		Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	<li>rs1250209</li><li>rs1250259</li>	2
P02753	5950	<ul><li>I->N at 59: in RBP deficiency<li>G->D at 93: in RBP deficiency</ul>							<li>P02752</li><li>P04916</li><li>P02753</li><li>P27485</li><li>Q28369</li><li>P61641</li><li>Q00724</li><li>Q01688</li><li>P18902</li><li>P06912</li>			2
P02763	5004	<ul><li>Q->R at 38: in allele ORM1*S<li>V->M at 174: in allele ORM1*F2; dbSNP:rs2636890: in dbSNP rsrs1126801</ul>							<li>P02763</li><li>P25227</li><li>Q96495</li><li>P53224</li>		rs1126801	2
P02765	197	<ul><li>T->M at 248: in allele AHSG*2; dbSNP:rs4917<li>T->S at 256: in allele AHSG*2; dbSNP:rs4918<li>D->N at 276: in allele AHSG*5<li>R->C at 317: in allele AHSG*3: in dbSNP rsrs35457250</ul>							<li>Q9N2D0</li><li>O70159</li><li>P97515</li><li>P12763</li><li>P02765</li><li>P80191</li><li>P29700</li><li>P29701</li>		<li>rs4918</li><li>rs4917</li><li>rs35457250</li>	2
P02766	7276	<ul><li>G->S at 26: common polymorphism; dbSNP:rs1800458<li>C->R at 30: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>L->P at 32: in AMYL1, MIM: 176300<li>M->I at 33, MIM: 176300<li>D->E at 38: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>D->G at 38: in AMYL7, MIM: 105210<li>V->I at 40: in AMYL1; late-onset amyloid polyneuropathy with carpal tunnel syndrome, MIM: 176300<li>S->N at 43: in AMYL1, MIM: 176300<li>P->S at 44: in AMYL1; amyloid polyneuropathy; dbSNP:rs11541790, MIM: 176300<li>V->M at 48: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>V->A at 50: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>V->G at 50: in AMYL1, MIM: 176300<li>V->L at 50: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>V->M at 50: in AMYL1; amyloid polyneuropathy; by far the most frequent mutation: in dbSNP rsrs28933979, MIM: 176300<li>F->C at 53: in a patient with amyloidosis, MIM: 176300<li>F->I at 53: in AMYL1; Jewish 'SKO' amyloid polyneuropathy, MIM: 176300<li>F->L at 53: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>F->V at 53: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>R->T at 54: in AMYL1, MIM: 176300<li>K->N at 55: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>A->P at 56: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>D->A at 58: in AMYL1, MIM: 176300<li>D->V at 58: in AMYL1, MIM: 176300<li>W->L at 61: in AMYL1, MIM: 176300<li>E->D at 62: in AMYL1, MIM: 176300<li>E->G at 62: in AMYL1; amyloid polyneuropathy: in dbSNP rsrs11541796, MIM: 176300<li>F->S at 64: in AMYL1, MIM: 176300<li>A->D at 65: in AMYL1; amyloid cardiomyopathy, MIM: 176300<li>A->S at 65: in AMYL1, MIM: 176300<li>A->T at 65: in AMYL1; amyloid cardiomyopathy, MIM: 176300<li>G->A at 67: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>G->E at 67: in AMYL1, MIM: 176300<li>G->R at 67: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>G->V at 67: in AMYL1; amyloid polyneuropathy with carpal tunnel syndrome, MIM: 176300<li>T->A at 69: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>T->I at 69: in AMYL1, MIM: 176300<li>S->I at 70: in AMYL1; amyloid cardiomyopathy, MIM: 176300<li>S->R at 70: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>S->P at 72: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>G->E at 73: in AMYL1, MIM: 176300<li>E->G at 74: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>E->K at 74: in AMYL1; early-onset amyloid polyneuropathy, MIM: 176300<li>L->P at 75: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>L->Q at 75: in AMYL1, MIM: 176300<li>L->H at 78: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300<li>L->R at 78: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300<li>T->K at 79: in AMYL1; amyloid cardiomyopathy, MIM: 176300<li>T->A at 80: in AMYL1; amyloid polyneuropathy and cardiomyopathy, MIM: 176300<li>E->G at 81: in AMYL1, MIM: 176300<li>E->K at 81: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>F->L at 84: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>I->L at 88: in AMYL1; amyloid cardiomyopathy, MIM: 176300<li>Y->H at 89: in AMYL7; vitreous amyloid in some patients, MIM: 105210<li>K->N at 90: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300<li>V->A at 91: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>I->V at 93: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>D->H at 94, MIM: 176300<li>S->Y at 97: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>Y->F at 98: in AMYL1, MIM: 176300<li>I->N at 104: in AMYL1; vitrous amyloid, MIM: 176300<li>I->S at 104: in AMYL1; carpal tunnel syndrome; almost no RBP binding, MIM: 176300<li>I->T at 104: in AMYL1, MIM: 176300<li>E->K at 109: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>E->Q at 109: in AMYL1; amyloid polyneuropathy and cardiomyopathy, MIM: 176300<li>H->N at 110, MIM: 176300<li>A->S at 111: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>V->A at 114: in a patient with amyloidosis, MIM: 176300<li>A->G at 117: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>A->S at 117: in AMYL1, MIM: 176300<li>G->S at 121, MIM: 176300<li>P->R at 122, MIM: 176300<li>R->C at 124, MIM: 176300<li>R->H at 124, MIM: 176300<li>T->N at 126: in AMYL1, MIM: 176300<li>I->M at 127: in AMYL1, MIM: 176300<li>I->V at 127: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>A->T at 129: increased affinity for thyroxine, MIM: 176300<li>L->M at 131: in AMYL1, MIM: 176300<li>Y->C at 134: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>Y->H at 134: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300<li>Y->S at 136: in AMYL1; amyloid polyneuropathy, MIM: 176300<li>Y->V at 136: requires 2 nucleotide substitutions, MIM: 176300<li>T->M at 139: in Chicago variant: in dbSNP rsrs28933981, MIM: 176300<li>A->S at 140: in AMYL1, MIM: 176300<li>V->A at 142: in AMYL1, MIM: 176300<li>V->I at 142: in AMYL1: in dbSNP rsrs28933980, MIM: 176300<li>N->S at 144: in AMYL1, MIM: 176300</ul>			binding	GO:0005488			<li>P02752</li><li>P04916</li><li>P02753</li><li>P27485</li><li>Q28369</li><li>P61641</li><li>Q00724</li><li>Q01688</li><li>P18902</li><li>P06912</li>	<li>Amyloidosis type 7 (AMYL7) [MIM:105210]</li><li>Amyloidosis type 1 (AMYL1) [MIM:176300]</li>	<li>rs1800458</li><li>rs28933979</li><li>rs28933980</li><li>rs28933981</li><li>rs11541790</li><li>rs11541796</li>	2
P02768	213	<ul><li>R->C at 23: in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill<li>R->H at 23: in Fukuoka-2/Lille/Taipei/Varese/Komagome-3<li>R->L at 24: in Jaffna<li>R->P at 24: in Takefu/Honolulu-1<li>R->Q at 24: in Christchurch/Honolulu-2<li>D->V at 25: in Bleinheim/Iowa city-2<li>H->Q at 27: in Nagasaki-3<li>H->Y at 27: in Larino<li>F->Y at 73<li>E->K at 84: in Torino<li>D->N at 87: in Malmo-95/Dalakarlia<li>L->P at 90: in FDH, MIM: 103600<li>E->K at 106: in Vibo Valentia, MIM: 103600<li>E->G at 121, MIM: 103600<li>R->G at 138: in Yanomama-2, MIM: 103600<li>E->K at 143: in Nagoya, MIM: 103600<li>V->E at 146: in Tregasio, MIM: 103600<li>H->R at 152: in Komagome-2, MIM: 103600<li>C->F at 201: in Hawkes bay, MIM: 103600<li>A->T at 215: in dbSNP:rs3210154, MIM: 103600<li>A->V at 215: in dbSNP:rs3204504, MIM: 103600<li>Q->L at 220: in dbSNP:rs3210163, MIM: 103600<li>R->H at 242: in FDH, MIM: 103600<li>R->P at 242: in FDH, MIM: 103600<li>K->Q at 249: in Tradate-2, MIM: 103600<li>K->E at 264: in Herborn, MIM: 103600<li>Q->R at 292: in Malmo-10, MIM: 103600<li>D->G at 293: in Nagasaki-1, MIM: 103600<li>K->N at 300: in Caserta, MIM: 103600<li>K->N at 337: in Canterbury/New Guinea/Tagliacozzo/Cuneo/Cooperstown, MIM: 103600<li>D->G at 338: in Bergamo, MIM: 103600<li>D->V at 338: in Brest, MIM: 103600<li>N->K at 342: in Malmo-47, MIM: 103600<li>A->T at 344: in Redhill; associated with C-23, MIM: 103600<li>E->K at 345: in Roma, MIM: 103600<li>E->K at 357: in Sondrio, MIM: 103600<li>E->K at 378: in Hiroshima-1, MIM: 103600<li>E->K at 382: in Coari I/Porto Alegre, MIM: 103600<li>K->N at 383: in Trieste, MIM: 103600<li>D->H at 389: in Parklands, MIM: 103600<li>D->V at 389: in Iowa city-1, MIM: 103600<li>K->E at 396: in Naskapi/Mersin/Komagome-1, MIM: 103600<li>D->N at 399: in Nagasaki-2, MIM: 103600<li>E->K at 400: in Tochigi, MIM: 103600<li>E->Q at 400: in Malmo-5, MIM: 103600<li>E->K at 406: in Hiroshima-2, MIM: 103600<li>E->K at 420, MIM: 103600<li>R->C at 434: in Liprizzi, MIM: 103600<li>K->E at 490: in dbSNP:rs1063469, MIM: 103600<li>E->K at 503: in Dublin, MIM: 103600<li>D->N at 518: in Casebrook, MIM: 103600<li>E->K at 525: in Manaus-1/Adana/Lambadi/Vancouver, MIM: 103600<li>E->K at 529: in Ortonovo, MIM: 103600<li>V->M at 557: in Maddaloni, MIM: 103600<li>K->E at 560: in Castel di Sangro, MIM: 103600<li>K->E at 565: in Maku, MIM: 103600<li>D->A at 574: in Malmo-61, MIM: 103600<li>D->G at 574: in Mexico, MIM: 103600<li>K->E at 584: in Church bay, MIM: 103600<li>D->N at 587: in Fukuoka-1/Paris-2, MIM: 103600<li>E->K at 589: in Osaka-1, MIM: 103600<li>E->K at 594: in Osaka-2/Phnom Phen/albumin B/Verona, MIM: 103600<li>GKKLVAASQAALGL- at 596-609: in Venezia, MIM: 103600<li>K->E at 597: in Gent/Milano Fast, MIM: 103600<li>K->N at 598: in Vanves, MIM: 103600<li>LVAASQAALGL->TC at 599-609: in Kenitra, MIM: 103600</ul>							<li>P79896</li><li>P11766</li><li>Q570B4</li><li>Q03134</li><li>P32771</li><li>O19053</li><li>P19854</li><li>P25437</li><li>P12711</li><li>P80467</li><li>Q9S7E4</li><li>P93629</li><li>P73138</li><li>P81600</li><li>P81601</li><li>Q07103</li><li>P33677</li><li>P72324</li><li>Q07511</li><li>P80360</li><li>Q96533</li><li>Q06099</li><li>P44557</li><li>O74685</li><li>P46415</li><li>P33160</li><li>O74540</li><li>P47734</li><li>P80572</li><li>P39450</li><li>Q17335</li><li>P46154</li><li>Q9ZRI8</li><li>P81431</li><li>P28474</li><li>P78870</li><li>P93436</li>	Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	<li>rs3204504</li><li>rs3210154</li><li>rs1063469</li><li>rs3210163</li>	2
P02771	174	<ul><li>K->Q at 187: in dbSNP:rs35765619<li>A->G at 570: in dbSNP:rs7790</ul>									<li>rs35765619</li><li>rs7790</li>	2
P02774	2638	<ul><li>D->E at 432: in allele GC*1S; dbSNP:rs7041<li>K->T at 436: in allele GC*1F and allele GC*1S; dbSNP:rs4588<li>R->C at 445: in allele GC*2A9<li>R->H at 445: in allele GC*1A1; dbSNP:rs9016</ul>									<li>rs9016</li><li>rs7041</li><li>rs4588</li>	2
P02786	7037	<ul><li>G->S at 142: rare polymorphism; dbSNP:rs3817672<li>L->V at 212: in dbSNP:rs41301381<li>G->S at 420: in dbSNP:rs41295879<li>R->H at 677: in dbSNP:rs41298067</ul>									<li>rs41301381</li><li>rs3817672</li><li>rs41295879</li><li>rs41298067</li>	2
P02787	7018	<ul><li>R->L at 42: in dbSNP:rs41298293<li>S->R at 55: in dbSNP:rs8177318<li>A->V at 76: in dbSNP:rs41298977<li>D->N at 77: in atransferrinemia, MIM: 209300<li>G->S at 142: in dbSNP:rs1799830, MIM: 209300<li>G->S at 277: in allele TF*C3; associated with a reduction in total iron binding capacity; risk factor for iron deficiency anemia in menstruating white women; dbSNP:rs1799899, MIM: 209300<li>D->G at 296: in allele TF*D1; dbSNP:rs8177238, MIM: 209300<li>H->R at 319: in allele TF*CHI: in dbSNP rsrs41295774, MIM: 209300<li>W->C at 377: in dbSNP:rs1804498, MIM: 209300<li>A->P at 477: in atransferrinemia, MIM: 209300<li>G->V at 562: in dbSNP:rs41296590, MIM: 209300<li>P->S at 589: in allele TF*C2; dbSNP:rs1049296, MIM: 209300<li>T->P at 645: in dbSNP:rs1130537, MIM: 209300<li>K->E at 646: in allele TF*BV, MIM: 209300<li>G->E at 671: in allele TF*B2, MIM: 209300</ul>			iron binding	GO:0005506			<li>Q08704</li><li>P41089</li><li>Q9LKC3</li><li>Q43754</li><li>Q43056</li><li>P41088</li><li>O22651</li><li>P14298</li><li>P51117</li><li>O81980</li><li>O65333</li><li>Q42663</li>	Atransferrinemia [MIM:209300]	<li>rs1799830</li><li>rs1049296</li><li>rs1130537</li><li>rs41296590</li><li>rs1799899</li><li>rs1804498</li><li>rs41295774</li><li>rs41298977</li><li>rs8177318</li><li>rs8177238</li><li>rs41298293</li>	2
P02788	4057	<ul><li>A->T at 29: in dbSNP:rs1126477<li>K->R at 47: in dbSNP:rs1126478<li>I->T at 148: in dbSNP:rs1126479<li>G->C at 422: in dbSNP:rs1042055<li>E->D at 579: in dbSNP:rs2073495</ul>									<li>rs1042055</li><li>rs2073495</li><li>rs1126478</li><li>rs1126479</li><li>rs1126477</li>	2
P02790	3263	<ul><li>D->N at 52: in dbSNP:rs10839564<li>R->W at 83: in dbSNP:rs12117</ul>									<li>rs10839564</li><li>rs12117</li>	2
P02792	2512	<ul><li>A->T at 96: in neuroferritinopathy, MIM: 606159</ul>								Neuroferritinopathy [MIM:606159]		2
P02795	4502	<ul><li>A->V at 42: in dbSNP rsrs35109646</ul>									rs35109646	2
P02810	5555	<ul><li>D->N at 20: in allele PRH1-PIF, allele PRH1-PA and allele PRH1-DB: in dbSNP rsrs1130404<li>I->L at 42: in allele PRH1-PA and allele PRH1-DB; dbSNP:rs2923234<li>D->N at 66: in allele PRH2-1; dbSNP:rs1049112<li>Q->QGGQQQQGPPPP at 97: in allele PRH1-DB<li>R->C at 119: in allele PRH1-PA; interferes with proteolytic cleavage at Arg-122<li>Q->K at 163: in allele PRH2-3</ul>							<li>Q6G7E9</li><li>P02810</li><li>Q8NVE3</li><li>P60086</li><li>Q4JIM5</li><li>P60087</li><li>Q6GER3</li><li>P60088</li>		<li>rs1130404</li><li>rs2923234</li>	2
P02812		<ul><li>S->P at 274: may abrogate glycosylation at N-272; dbSNP:rs10845349</ul>										2
P02818	632	<ul><li>R->Q at 94: in dbSNP:rs34702397</ul>									rs34702397	2
P03372	2099	<ul><li>H->Y at 6: in a breast cancer sample; somatic mutation<li>G->S at 77: in dbSNP:rs9340773<li>G->C at 160<li>M->I at 264: in a breast cancer sample; somatic mutation<li>V->E at 364: in estrogen resistance; dominant-negative inhibitor of the wild-type ESR<li>G->V at 400: destabilizes the receptor and decreases its affinity for estradiol at 25 degrees Celsius, but not at 4 degrees Celsius<li>D->RNQGKCVEGMVE at 411: in a 80 kDa form found in a breast cancer line; contains an in-frame duplication of exons 6 and 7</ul>							<li>Q9TV98</li><li>Q9QZJ5</li><li>P49884</li><li>Q91424</li><li>Q91250</li><li>Q29040</li><li>P50242</li><li>P50241</li><li>P03372</li><li>P16058</li><li>Q9YH33</li><li>Q9PVZ9</li><li>P50240</li><li>P06212</li><li>P57753</li><li>P49885</li><li>Q53AD2</li><li>P49886</li><li>Q9YHZ7</li><li>O42132</li>		rs9340773	2
P03886	4535	<ul><li>A->T at 4: in NIDDM<li>Y->H at 30: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000<li>M->T at 31: in MELAS, MIM: 540000<li>M->V at 31: in AD, MIM: 502500<li>A->T at 52: in LHON; primary mutation; medium severity; some vision recovery; 80% reduction in rotenone-sensitive and ubiquinone-dependent electron transfer activity, whereas the proximal NADH dehydrogenase activity of the complex is unaffected, MIM: 535000<li>T->A at 87, MIM: 535000<li>T->A at 168, MIM: 535000<li>S->P at 205, MIM: 535000<li>Y->C at 255, MIM: 535000<li>Y->C at 277, MIM: 535000<li>L->P at 285: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000<li>L->P at 288, MIM: 535000<li>Y->H at 304: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</ul>	<li>vision</li><li>electron transfer</li>	<li>GO:0007601</li><li>GO:0006118</li>					<li>P00393</li><li>P44856</li><li>P26829</li><li>P42974</li><li>Q60049</li>	<li>Mitochondrial susceptibility to Alzheimer disease (AD) [MIM:502500]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03891	4536	<ul><li>P->L at 42<li>V->I at 43<li>I->T at 57<li>Q->R at 63<li>I->V at 69<li>N->S at 88<li>T->A at 119<li>S->P at 148<li>N->D at 150: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000<li>N->S at 150, MIM: 535000<li>I->T at 159, MIM: 535000<li>T->A at 185, MIM: 535000<li>L->M at 237, MIM: 535000<li>G->S at 259: in LHON; rare primary mutation, MIM: 535000<li>A->T at 265, MIM: 535000<li>A->V at 265, MIM: 535000<li>I->T at 278, MIM: 535000<li>F->L at 325, MIM: 535000<li>A->S at 331: in AD, MIM: 502500<li>A->T at 331, MIM: 502500<li>T->A at 333, MIM: 502500</ul>								<li>Mitochondrial susceptibility to Alzheimer disease (AD) [MIM:502500]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li>		2
P03897		<ul><li>N->D at 10<li>S->P at 45: in complex I deficiency<li>A->T at 47: in LS, MIM: 256000<li>M->V at 53, MIM: 256000<li>T->A at 114, MIM: 256000</ul>							Q07842	Leigh syndrome (LS) [MIM:256000]		2
P03901	4539	<ul><li>C->R at 32: in colorectal cancer<li>M->I at 36<li>N->S at 57<li>I->T at 61<li>V->A at 65: in LHON; possible rare primary mutation, MIM: 535000</ul>								Leber hereditary optic neuropathy (LHON) [MIM:535000]		2
P03905	4538	<ul><li>A->P at 79<li>T->A at 109: in MELAS, MIM: 540000<li>T->P at 109, MIM: 540000<li>I->T at 132, MIM: 540000<li>M->T at 294, MIM: 540000<li>V->I at 313: in LDYT; possible rare primary mutation, MIM: 500001<li>R->H at 340: in LHON; primary mutation; almost no vision recovery; most frequent mutation; seems to have no effect on electron transfer activity of the complex in inner mitochondrial membrane preparations, MIM: 535000</ul>	<li>vision</li><li>electron transfer</li>	<li>GO:0007601</li><li>GO:0006118</li>			mitochondrial membrane	GO:0005740		<li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03915		<ul><li>P->S at 17<li>F->S at 95<li>S->P at 99<li>F->L at 124: in LS; due to mitochondrial complex I deficiency, MIM: 256000<li>E->G at 145: in MELAS, MIM: 540000<li>G->D at 146, MIM: 540000<li>A->V at 160, MIM: 540000<li>N->S at 165, MIM: 540000<li>A->V at 171: in LHON, MIM: 535000<li>T->P at 211, MIM: 535000<li>A->T at 236: in MELAS/MERRF/LS; due to mitochondrial complex I deficiency, MIM: 535000<li>M->L at 237: in MELAS/LHON/LS; due to mitochondrial complex I deficiency, MIM: 535000<li>S->C at 250: in MELAS/LS; due to mitochondrial complex I deficiency, MIM: 535000<li>I->V at 257, MIM: 535000<li>F->S at 304, MIM: 535000<li>M->V at 314, MIM: 535000<li>T->A at 331, MIM: 535000<li>D->N at 393: in MELAS, MIM: 540000<li>A->T at 458: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000<li>G->E at 465: in LHON; primary rare mutation, MIM: 535000<li>A->T at 475, MIM: 535000<li>D->G at 503, MIM: 535000</ul>							Q07842	<li>Leigh syndrome (LS) [MIM:256000]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03923	4541	<ul><li>I->M at 26: in LDYT; possible rare primary mutation, MIM: 500001<li>V->A at 31, MIM: 500001<li>I->V at 33, MIM: 500001<li>G->S at 36: in LHON; possible rare primary mutation, MIM: 535000<li>I->V at 58, MIM: 535000<li>Y->C at 59: in LHON; possible rare primary mutation, MIM: 535000<li>L->S at 60: in LHON; possible rare primary mutation, MIM: 535000<li>M->I at 64: in LHON; possible rare primary mutation, MIM: 535000<li>M->V at 64: in LHON; primary mutation; low severity; up to 50% of vision recovery, MIM: 535000<li>A->V at 72: in LDYT; primary mutation; most severe mutation with no vision recovery; rare mutation, MIM: 500001<li>A->V at 74: in MELAS, MIM: 540000<li>Y->C at 165, MIM: 540000</ul>	vision	GO:0007601						<li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03928	4509	<ul><li>L->P at 17<li>F->S at 21<li>M->T at 28</ul>										2
P03950	283	<ul><li>F->S at 12: in ALS9, MIM: 611895<li>P->S at 20: in ALS9, MIM: 611895<li>Q->L at 36: in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; wild type far-UV CD spectra, MIM: 611895<li>K->E at 41: in ALS9; reduced ribonucleolytic activity, MIM: 611895<li>K->I at 41: in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; retains nuclear translocation, MIM: 611895<li>S->N at 52: in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; unable to translocate to the nucleus, MIM: 611895<li>R->K at 55: in ALS9; marginally reduced ribonucleolytic activity; wild type far-UV CD spectra, MIM: 611895<li>C->W at 63: in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; reduced thermal stability, MIM: 611895<li>K->I at 64: in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; moderate reduction of thermal stability, MIM: 611895<li>I->V at 70: in some ALS9 patients; pathogenicity uncertain; reduced ribonucleolytic activity; moderate reduction of thermal stability, MIM: 611895<li>K->E at 84: in dbSNP:rs17560, MIM: 611895<li>P->L at 136: in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; unable to translocate to the nucleus, MIM: 611895<li>V->I at 137: in ALS9, MIM: 611895<li>H->R at 138: in ALS9, MIM: 611895</ul>					nucleus	GO:0005634		Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	rs17560	2
P03951	2160	<ul><li>D->H at 34: in F11 deficiency, MIM: 612416<li>C->F at 46: in F11 deficiency, MIM: 612416<li>C->R at 56: in F11 deficiency; autosomal dominant; secretion of the mutant protein is impaired, MIM: 612416<li>P->L at 66: in dbSNP:rs5968, MIM: 612416<li>K->R at 101: in F11 deficiency, MIM: 612416<li>Y->C at 151: in F11 deficiency, MIM: 612416<li>Q->R at 244: in F11 deficiency; dbSNP:rs5969, MIM: 612416<li>W->C at 246: in F11 deficiency, MIM: 612416<li>C->Y at 255: in F11 deficiency; secretion of the mutant protein is impaired, MIM: 612416<li>G->E at 263: in F11 deficiency, MIM: 612416<li>S->N at 266: in F11 deficiency, MIM: 612416<li>K->I at 270: in F11 deficiency; although the mutant protein is synthesized the secretion is reduced, MIM: 612416<li>F->L at 301: in F11 deficiency; frequent mutation in Ashkenazi patients, MIM: 612416<li>I->F at 308: in dbSNP:rs5972, MIM: 612416<li>L->P at 320: in F11 deficiency, MIM: 612416<li>T->I at 322: in F11 deficiency, MIM: 612416<li>R->C at 326: in F11 deficiency: in dbSNP rsrs28934608, MIM: 612416<li>C->F at 339: in dbSNP:rs5967, MIM: 612416<li>E->K at 341: in F11 deficiency, MIM: 612416<li>W->R at 399: in dbSNP:rs1800439, MIM: 612416<li>T->N at 404: in F11 deficiency, MIM: 612416<li>G->V at 418: in F11 deficiency; autosomal dominant; mutant is not secreted by transfected fibroblasts; dominant-negative effect, MIM: 612416<li>A->V at 430: in F11 deficiency: in dbSNP rsrs28934901, MIM: 612416<li>F->V at 460: in F11 deficiency, MIM: 612416<li>T->I at 493: in F11 deficiency, MIM: 612416<li>Y->H at 511: in F11 deficiency; transfected cells contain reduced amount of mutant protein and display decreased secretion, MIM: 612416<li>P->L at 538: in F11 deficiency, MIM: 612416<li>E->K at 565: in F11 deficiency, MIM: 612416<li>W->S at 587: in F11 deficiency; autosomal dominant; mutant is not secreted by transfected fibroblasts; dominant-negative effect, MIM: 612416<li>S->R at 594: in F11 deficiency: in dbSNP rsrs28934609, MIM: 612416<li>I->S at 618: in F11 deficiency, MIM: 612416</ul>	secretion	GO:0046903					<li>P29886</li><li>Q5NTB3</li><li>Q85281</li><li>P03951</li><li>P07618</li><li>Q91Y47</li>	F11 deficiency [MIM:612416]	<li>rs1800439</li><li>rs28934609</li><li>rs28934901</li><li>rs5969</li><li>rs28934608</li><li>rs5967</li><li>rs5972</li><li>rs5968</li>	2
P03952	3818	<ul><li>G->R at 123: in PKK deficiency; reduces the binding activity of Apple domain 2 to HMW kininogen, MIM: 612423<li>N->S at 143: in PKK deficiency; reduces the binding activity of Apple domain 2 to HMW kininogen; dbSNP:rs3733402, MIM: 612423<li>A->T at 178: in dbSNP:rs4253257, MIM: 612423<li>H->Q at 202: in dbSNP:rs4253373, MIM: 612423<li>H->P at 208, MIM: 612423<li>A->E at 210: in dbSNP:rs2278542, MIM: 612423<li>S->C at 269: in dbSNP:rs4253376, MIM: 612423<li>F->V at 311: in dbSNP:rs4253377, MIM: 612423<li>T->A at 358: in dbSNP:rs4253379, MIM: 612423<li>S->A at 381: in dbSNP:rs4253301, MIM: 612423<li>Q->P at 442: in dbSNP:rs4253316, MIM: 612423<li>C->Y at 548: in PKK deficiency, MIM: 612423<li>R->Q at 560: in dbSNP:rs4253325, MIM: 612423</ul>			binding	GO:0005488			<li>P83857</li><li>P83856</li>	Prekallikrein deficiency (PKK deficiency) [MIM:612423]	<li>rs4253379</li><li>rs4253257</li><li>rs2278542</li><li>rs3733402</li><li>rs4253373</li><li>rs4253376</li><li>rs4253325</li><li>rs4253316</li><li>rs4253377</li><li>rs4253301</li>	2
P03956	4312	<ul><li>Q->P at 29: in dbSNP:rs554499<li>I->V at 191: in dbSNP:rs17879973<li>D->G at 252: in dbSNP:rs513964<li>R->S at 262: in dbSNP:rs12282811<li>R->Q at 405: in dbSNP:rs17879165<li>S->T at 406: in dbSNP:rs17884120</ul>									<li>rs12282811</li><li>rs554499</li><li>rs17879165</li><li>rs513964</li><li>rs17884120</li><li>rs17879973</li>	2
P03971		<ul><li>V->G at 12: in PMDS-1, MIM: 261550<li>I->S at 49: in dbSNP:rs10407022, MIM: 261550<li>L->P at 70: in PMDS-1, MIM: 261550<li>G->V at 101: in PMDS-1, MIM: 261550<li>R->W at 123: in PMDS-1, MIM: 261550<li>Y->C at 167: in PMDS-1, MIM: 261550<li>Q->E at 185, MIM: 261550<li>R->C at 194: in PMDS-1, MIM: 261550<li>Q->R at 325, MIM: 261550<li>V->A at 477: in PMDS-1, MIM: 261550<li>H->Q at 506: in PMDS-1, MIM: 261550<li>C->Y at 525: in PMDS-1, MIM: 261550</ul>								Persistent Muellerian duct syndrome type 1 (PMDS-1) [MIM:261550]	rs10407022	2
P03989		<ul><li>Y->H at 83: in allele B*2703<li>D->N at 101: in allele B*2702<li>D->S at 101: in allele B*2704, allele B*2706 and allele B*2708; requires 2 nucleotide substitutions<li>TL->IA at 104-105: in allele B*2702<li>T->N at 104: in allele B*2708<li>LR->RG at 106-107: in allele B*2708<li>N->S at 121: in allele B*2707<li>YH->HN at 137-138: in allele B*2707<li>H->D at 138: in allele B*2706<li>D->H at 140: in allele B*2709<li>D->Y at 140: in allele B*2706 and allele B*2707<li>S->R at 155: in allele B*2707<li>V->E at 176: in allele B*2704 and allele B*2706<li>A->G at 235: in allele B*2704 and allele B*2706</ul>										2
P03992	3119	<ul><li>A->S at 6: in dbSNP:rs1049056<li>D->G at 12: in dbSNP:rs1049057<li>V->A at 15: in dbSNP:rs3189152<li>A->S at 23: in dbSNP:rs3891176<li>M->I at 24: in dbSNP:rs1049059<li>F->Y at 41: in dbSNP:rs9274407<li>G->R at 102: in dbSNP:rs1130386<li>T->R at 109: in dbSNP:rs1130392<li>V->I at 148: in dbSNP:rs1049100<li>G->S at 157: in dbSNP:rs1049107<li>E->D at 194: in dbSNP:rs9273952<li>T->I at 217: in dbSNP:rs1130399</ul>									<li>rs3189152</li><li>rs1130399</li><li>rs1049056</li><li>rs1049057</li><li>rs1049107</li><li>rs1049059</li><li>rs1049100</li><li>rs3891176</li><li>rs1130392</li><li>rs9273952</li><li>rs1130386</li><li>rs9274407</li>	2
P03999	611	<ul><li>G->R at 79: in tritanopia, MIM: 190900<li>S->P at 214: in tritanopia, MIM: 190900<li>P->S at 264: in tritanopia, MIM: 190900</ul>								Tritan color blindness (tritanopia) [MIM:190900]		2
P04000	5956	<ul><li>T->I at 65: in dbSNP:rs1065419<li>I->V at 111: in dbSNP:rs1065421<li>S->Y at 116: in dbSNP:rs1065422<li>L->M at 153: in dbSNP:rs713<li>A->V at 174: in dbSNP:rs731613<li>S->A at 180: in 38% of the population; dbSNP:rs949431<li>C->R at 203: in CBP, MIM: 303900<li>I->T at 230: in dbSNP:rs1065425, MIM: 303900<li>I->V at 274: in dbSNP:rs2315122, MIM: 303900<li>A->P at 298: in dbSNP:rs1065440, MIM: 303900<li>P->L at 307: in CBP, MIM: 303900<li>Y->F at 309: in dbSNP:rs1065441, MIM: 303900</ul>							<li>O42720</li><li>P0AEN0</li><li>P0AEM9</li><li>Q9NWQ8</li><li>Q92793</li><li>Q39962</li><li>P00303</li><li>Q61990</li>	Partial colorblindness protan series (CBP) [MIM:303900]	<li>rs2315122</li><li>rs1065441</li><li>rs1065440</li><li>rs1065422</li><li>rs1065421</li><li>rs713</li><li>rs1065425</li><li>rs1065419</li><li>rs731613</li>	2
P04001	2652	<ul><li>C->R at 203: in CBD, MIM: 303800</ul>								Partial colorblindness deutan series (CBD) [MIM:303800]		2
P04003	722	<ul><li>A->V at 60: in dbSNP:rs17020956<li>I->T at 300: in dbSNP:rs4844573<li>Y->H at 357<li>W->L at 473: in dbSNP:rs1801341</ul>									<li>rs4844573</li><li>rs17020956</li><li>rs1801341</li>	2
P04004	7448	<ul><li>A->S at 122: in dbSNP:rs2227741<li>R->Q at 268: in dbSNP:rs2227723<li>T->M at 400: in dbSNP:rs704</ul>									<li>rs2227741</li><li>rs2227723</li><li>rs704</li>	2
P04035	3156	<ul><li>I->V at 638: in dbSNP:rs5908</ul>									rs5908	2
P04049	5894	<ul><li>R->S at 256: in NS5, MIM: 611553<li>S->L at 257: in NS5 and LEOPARD sndrome-2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type, MIM: 611553<li>S->A at 259: in an ovarian serous carcinoma sample; somatic mutation, MIM: 611553<li>S->F at 259: in NS5, MIM: 611553<li>T->I at 260: in hypertrophic cardiomyopathy, MIM: 611553<li>T->R at 260: in NS5, MIM: 611553<li>P->A at 261: in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553<li>P->L at 261: in NS5; shows greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553<li>P->S at 261: in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553<li>V->A at 263: in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553<li>P->L at 308: in dbSNP:rs5746220, MIM: 611553<li>Q->H at 335: in a lung adenocarcinoma sample; somatic mutation, MIM: 611553<li>D->G at 486: in NS5, MIM: 611553<li>D->N at 486: in NS5; has reduced or absent kinase activity, MIM: 611553<li>T->I at 491: in NS5; has reduced or absent kinase activity, MIM: 611553<li>T->R at 491: in NS5, MIM: 611553<li>S->T at 612: in NS5, MIM: 611553<li>L->V at 613: in NS5 and LEOPARD syndrome-2; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553</ul>			kinase activity	GO:0016301			<li>P27395</li><li>P27915</li><li>Q01299</li><li>P33478</li><li>P12823</li><li>P46196</li><li>P29837</li><li>P05769</li><li>P07564</li><li>P07720</li><li>P28482</li><li>P19110</li><li>P33515</li><li>P32886</li><li>P06935</li><li>P29323</li><li>P29990</li><li>Q04538</li><li>P29991</li><li>P09866</li><li>P14336</li><li>Q5Z9J0</li><li>P14335</li>	<li>LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]</li><li>Noonan syndrome type 5 (NS5) [MIM:611553]</li>	rs5746220	2
P04054	5319	<ul><li>D->A at 16: in dbSNP:rs5632<li>N->K at 89: in dbSNP:rs5636<li>N->T at 89: in dbSNP:rs5635</ul>									<li>rs5635</li><li>rs5636</li><li>rs5632</li>	2
P04062	2629	<ul><li>V->L at 54: in GD, MIM: 230800<li>C->S at 55: in GD; neuronopathic and perinatal lethal forms; loss of activity, MIM: 230800<li>D->N at 63: in GD; type 1; very low activity, MIM: 230800<li>F->V at 76: in GD, MIM: 230800<li>E->K at 80: in GD; type 2; dbSNP:rs1141808, MIM: 230800<li>T->I at 82: in GD, MIM: 230800<li>G->E at 85: in GD, MIM: 230800<li>R->Q at 87: in GD; 20% of normal activity, MIM: 230800<li>R->W at 87: in GD; mild; dbSNP:rs1141814, MIM: 230800<li>M->T at 92: in dbSNP:rs3205619, MIM: 230800<li>K->N at 118: in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>A->T at 129: in GD, MIM: 230800<li>S->L at 146: in GD; type 2, MIM: 230800<li>G->E at 152: in GD, MIM: 230800<li>N->D at 156: in GD, MIM: 230800<li>I->S at 158: in GD; type 1; very low activity, MIM: 230800<li>I->T at 158: in GD, MIM: 230800<li>R->Q at 159: in GD; type 2; 13% of normal activity, MIM: 230800<li>R->W at 159: in GD; severe, MIM: 230800<li>P->L at 161: in GD; 16% of normal activity, MIM: 230800<li>P->S at 161: in GD; mild, MIM: 230800<li>M->V at 162: in GD; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>D->V at 166: in GD; 9% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>R->C at 170: in GD; type 1 and type 2, MIM: 230800<li>R->L at 170: in GD, MIM: 230800<li>T->I at 173: in GD, MIM: 230800<li>T->P at 173: in GD, MIM: 230800<li>A->E at 175: in GD, MIM: 230800<li>D->H at 179: in GD, MIM: 230800<li>K->Q at 196: in GD; severe, MIM: 230800<li>P->L at 198: in GD, MIM: 230800<li>P->T at 198: in GD, MIM: 230800<li>I->N at 200: in GD; 5% of normal activity, MIM: 230800<li>I->S at 200: in GD, MIM: 230800<li>H->P at 201: in GD, MIM: 230800<li>R->C at 209: in GD, MIM: 230800<li>R->P at 209: in GD, MIM: 230800<li>L->F at 213: in GD; 12% of normal activity, MIM: 230800<li>A->D at 215: in GD, MIM: 230800<li>P->S at 217: in GD; type 2, MIM: 230800<li>P->L at 221: in GD; type 1; very low activity, MIM: 230800<li>P->T at 221: in GD, MIM: 230800<li>W->R at 223: in GD; gene conversion, MIM: 230800<li>L->F at 224: in GD; 4% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>N->K at 227: in GD; gene conversion; dbSNP:rs381418, MIM: 230800<li>N->S at 227: in GD; type 2; dbSNP:rs364897, MIM: 230800<li>G->V at 228: in GD, MIM: 230800<li>A->E at 229: in GD; type 2, MIM: 230800<li>A->T at 229: in GD, MIM: 230800<li>V->E at 230: in GD; type 1; very low activity, MIM: 230800<li>V->G at 230: in GD; mild; gene conversion; dbSNP:rs381427, MIM: 230800<li>G->E at 232: in GD; 7% of normal activity, MIM: 230800<li>G->E at 234: in GD; severe, MIM: 230800<li>G->W at 234: in GD, MIM: 230800<li>S->P at 235: in GD; type 2; gene conversion; dbSNP:rs1064644, MIM: 230800<li>K->E at 237: in GD; severe; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>G->E at 241: in GD, MIM: 230800<li>G->R at 241: in GD; type 1 and type 2; gene conversion, MIM: 230800<li>Y->C at 244: in GD, MIM: 230800<li>Y->H at 251: in GD, MIM: 230800<li>F->I at 252: in GD; type 2; gene conversion; dbSNP:rs381737, MIM: 230800<li>F->Y at 255: in GD; mild, MIM: 230800<li>T->R at 270: in GD, MIM: 230800<li>S->P at 276: in GD, MIM: 230800<li>F->L at 290: in GD; perinatal lethal form, MIM: 230800<li>H->Q at 294: in GD; type 1 and type 2, MIM: 230800<li>R->Q at 296: in GD; type 2, MIM: 230800<li>F->L at 298: in GD; type 2; 4% of normal activity, MIM: 230800<li>L->I at 303: in GD; 5% of normal activity, MIM: 230800<li>G->D at 304: in GD, MIM: 230800<li>P->R at 305: in GD; mild, MIM: 230800<li>S->G at 310: in dbSNP:rs1057942, MIM: 230800<li>S->N at 310: in GD; less than 5% of normal activity, MIM: 230800<li>R->C at 324: in GD; type 1, MIM: 230800<li>R->H at 324: in GD; type 2, MIM: 230800<li>P->L at 328: in GD; mild, MIM: 230800<li>K->I at 342: in GD, MIM: 230800<li>Y->C at 343: in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>A->V at 348: in GD, MIM: 230800<li>H->R at 350: in perinatal lethal GD, MIM: 230800<li>W->C at 351: in GD; mild, MIM: 230800<li>Y->H at 352: in GD, MIM: 230800<li>D->H at 354: in GD, MIM: 230800<li>A->D at 357: in GD, MIM: 230800<li>T->I at 362: in GD; 6% of normal activity, MIM: 230800<li>L->P at 363: in GD, MIM: 230800<li>G->R at 364: in GD; type 2, MIM: 230800<li>E->K at 365: in GD; mild; 42% of normal activity; dbSNP:rs2230288, MIM: 230800<li>R->H at 368: in dbSNP:rs1064648, MIM: 230800<li>A->T at 380: in GD, MIM: 230800<li>C->G at 381: in GD; type 2; loss of activity, MIM: 230800<li>E->K at 388: in GD; 12% of normal activity, MIM: 230800<li>V->L at 391: in GD, MIM: 230800<li>R->G at 392: in GD, MIM: 230800<li>R->W at 392: in GD; 5% of normal activity, MIM: 230800<li>R->Q at 398: in GD; mild, MIM: 230800<li>M->I at 400: in GD, MIM: 230800<li>Y->C at 402: in GD; 8% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>S->T at 403: in GD; mild, MIM: 230800<li>S->G at 405: in GD, MIM: 230800<li>S->N at 405: in GD, MIM: 230800<li>T->M at 408: in GD; dbSNP:rs2230289, MIM: 230800<li>N->S at 409: in GD; common mutation; alters interaction with saposin-C and membranes and thereby reduces enzyme activity; mild, MIM: 230800<li>L->V at 410: in GD; 15% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>V->L at 414: in GD; mild, MIM: 230800<li>G->S at 416: in GD; mild, MIM: 230800<li>W->G at 417: in GD, MIM: 230800<li>D->A at 419: in GD; type 2, MIM: 230800<li>D->H at 419: in GD; 4% of normal activity, MIM: 230800<li>D->N at 419: in GD, MIM: 230800<li>N->K at 421: in GD; 22% of normal activity, MIM: 230800<li>P->L at 426: in GD, MIM: 230800<li>G->E at 428: in GD; type 2, MIM: 230800<li>G->R at 429: in GD; 17% of normal activity, MIM: 230800<li>P->L at 430: in GD, MIM: 230800<li>N->I at 431: in GD; type 2, MIM: 230800<li>W->R at 432: in GD, MIM: 230800<li>V->L at 433: in GD; severe; 12% of normal activity, MIM: 230800<li>N->T at 435: in GD; mild, MIM: 230800<li>F->S at 436: in GD; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation, MIM: 230800<li>V->F at 437: in perinatal lethal GD, MIM: 230800<li>V->L at 437: in GD; type 3, MIM: 230800<li>D->N at 438: in GD; type 1 and type 2; 14% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>D->Y at 438: in GD, MIM: 230800<li>P->L at 440: in GD, MIM: 230800<li>I->F at 441: in GD; type 3, MIM: 230800<li>I->T at 441: in GD; mild, MIM: 230800<li>D->H at 448: in GD; type 1 and type neuronopathic; at homozygosity it causes Gaucher disease type 3C; gene conversion; very low activity; alters protein stability; dbSNP:rs1064651, MIM: 230800<li>D->V at 448: in GD; severe; very low activity; alters protein stability, MIM: 230800<li>F->I at 450: in GD, MIM: 230800<li>Y->H at 451: in GD, MIM: 230800<li>K->Q at 452: in GD, MIM: 230800<li>P->R at 454: in GD; type 2, MIM: 230800<li>M->V at 455: in GD; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>F->V at 456: in GD, MIM: 230800<li>Y->C at 457: in GD, MIM: 230800<li>G->D at 460: in GD; type 1; associated with R-490; loss of activity, MIM: 230800<li>K->E at 464: in GD; severe, MIM: 230800<li>L->P at 483: in GD; type 1 and type 2; common mutation; gene conversion; very low activity; alters protein stability, MIM: 230800<li>L->R at 483: in GD; severe, MIM: 230800<li>A->P at 485: in GD, MIM: 230800<li>H->R at 490: in GD; type 1; associated with D-460, MIM: 230800<li>A->P at 495: in GD; gene conversion; dbSNP:rs368060, MIM: 230800<li>L->P at 500: in GD; 10% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>N->K at 501: in GD; type 2, MIM: 230800<li>R->C at 502: in GD; 37% of normal activity, MIM: 230800<li>R->P at 502: in GD; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800<li>L->P at 509, MIM: 230800<li>D->Y at 513: in GD; type 2, MIM: 230800<li>G->S at 517: in GD, MIM: 230800<li>T->I at 530: in GD; type 3; severe, MIM: 230800<li>R->C at 535: in GD; mild, MIM: 230800<li>R->H at 535: in GD; mild, MIM: 230800</ul>					membranes	GO:0016020	<li>P26779</li><li>P07602</li><li>O13035</li><li>P20097</li>	Gaucher disease (GD) [MIM:230800]	<li>rs3205619</li><li>rs381737</li><li>rs368060</li><li>rs1141808</li><li>rs1064644</li><li>rs1141814</li><li>rs1064648</li><li>rs381427</li><li>rs364897</li><li>rs381418</li><li>rs2230289</li><li>rs2230288</li><li>rs1057942</li><li>rs1064651</li>	2
P04066	2517	<ul><li>R->W at 2: in dbSNP:rs2070955<li>P->R at 10: in dbSNP:rs2070956<li>G->D at 65: in FUCA1D; loss of activity, MIM: 230000<li>S->L at 68: in FUCA1D, MIM: 230000<li>P->L at 146: in dbSNP:rs2228424, MIM: 230000<li>V->I at 260: in dbSNP:rs665, MIM: 230000<li>C->S at 269: in dbSNP:rs1126512, MIM: 230000<li>Q->R at 286: in allele FUCA1*2; dbSNP:rs13551, MIM: 230000<li>L->R at 410: in FUCA1D; less than 1% of residual activity, MIM: 230000</ul>							<li>Q60HF8</li><li>P48300</li><li>P04066</li>	Fucosidosis (FUCA1D) [MIM:230000]	<li>rs13551</li><li>rs2228424</li><li>rs2070955</li><li>rs1126512</li><li>rs665</li><li>rs2070956</li>	2
P04070	5624	<ul><li>W->G at 14: in patients with PROC deficiency<li>R->C at 32: in ADPROCD, MIM: 176860<li>R->W at 38: in patients with PROC deficiency, MIM: 176860<li>R->C at 42: in patients with PROC deficiency, MIM: 176860<li>R->H at 42: in Malakoff; low anticoagulant activity, MIM: 176860<li>R->S at 42: in ADPROCD; type II; Osaka-10; alters proteolytic processing so that S-42 is the N-terminus of the mature protein, MIM: 176860<li>A->T at 43, MIM: 176860<li>E->D at 49: in patients with PROC deficiency, MIM: 176860<li>R->C at 51: in patients with PROC deficiency, MIM: 176860<li>R->G at 57: in Yonago; defective anticoagulant activity, MIM: 176860<li>R->Q at 57: in patients with PROC deficiency, MIM: 176860<li>R->W at 57: in ADPROCD, MIM: 176860<li>E->A at 62: in ADPROCD; Vermont-1, MIM: 176860<li>V->M at 76: in ADPROCD; Vermont-1, MIM: 176860<li>G->C at 89: in patients with PROC deficiency, MIM: 176860<li>H->N at 108: in patients with PROC deficiency; La Jolla-1, MIM: 176860<li>G->R at 109: in patients with PROC deficiency, MIM: 176860<li>Missing  at 114-118: in patients with PROC deficiency, MIM: 176860<li>G->R at 114: in ADPROCD, MIM: 176860<li>F->L at 118: in patients with PROC deficiency, MIM: 176860<li>Missing  at 119-124: in patients with PROC deficiency; St Louis-2, MIM: 176860<li>Missing  at 120-125: in patients with PROC deficiency; St Louis-3, MIM: 176860<li>NG->K at 144-145: in ARPROCD; neonatal purpura fulminans, MIM: 176860<li>G->R at 145: in ADPROCD, MIM: 176860<li>C->Y at 147: in patients with PROC deficiency, MIM: 176860<li>H->P at 149: in patients with PROC deficiency, MIM: 176860<li>S->R at 161: in patients with PROC deficiency, MIM: 176860<li>A->P at 178: in ARPROCD; Clamart, MIM: 612304<li>C->R at 183: in patients with PROC deficiency, MIM: 612304<li>R->W at 189: in patients with PROC deficiency; La Jolla-3, MIM: 612304<li>R->C at 194: in patients with PROC deficiency, MIM: 612304<li>P->L at 210: in ADPROCD, MIM: 176860<li>R->Q at 211: in patients with PROC deficiency: in dbSNP rsrs28933987, MIM: 176860<li>R->W at 211: in ADPROCD; London-1/Tochigi: in dbSNP rsrs28933986, MIM: 176860<li>R->P at 220: in patients with PROC deficiency, MIM: 176860<li>R->Q at 220: in ADPROCD; Vermont-3, MIM: 176860<li>R->W at 220: in ADPROCD, MIM: 176860<li>Q->H at 226: in patients with PROC deficiency, MIM: 176860<li>I->T at 243: in ADPROCD, MIM: 176860<li>H->Y at 244: in patients with PROC deficiency, MIM: 176860<li>H->Q at 253: in patients with PROC deficiency, MIM: 176860<li>L->F at 265: in patients with PROC deficiency, MIM: 176860<li>R->Q at 271: in Marseille; low anticoagulant activity, MIM: 176860<li>R->W at 271: in patients with PROC deficiency, MIM: 176860<li>R->C at 272: in ADPROCD, MIM: 176860<li>D->DLD at 281: in patients with PROC deficiency, MIM: 176860<li>P->L at 289: in ARPROCD, MIM: 612304<li>S->N at 294: in Paris; low anticoagulant activity, MIM: 612304<li>N->D at 298: in patients with PROC deficiency, MIM: 612304<li>A->T at 301: in patients with PROC deficiency, MIM: 612304<li>A->V at 301: in patients with PROC deficiency, MIM: 612304<li>A->T at 309: in patients with PROC deficiency, MIM: 612304<li>S->L at 312: in patients with PROC deficiency, MIM: 612304<li>S->P at 312: in a patient with PROC deficiency; sporadic case, MIM: 612304<li>P->L at 321: in ADPROCD, MIM: 176860<li>G->R at 324: in ADPROCD, MIM: 176860<li>R->C at 328: in ADPROCD, MIM: 176860<li>R->H at 328: in ARPROCD; Muenchen, MIM: 612304<li>G->S at 334: in ARPROCD, MIM: 612304<li>T->M at 340: in ADPROCD; Vermont-2, MIM: 176860<li>G->D at 343: in patients with PROC deficiency, MIM: 176860<li>Missing  at 363: in patients with PROC deficiency, MIM: 176860<li>V->A at 367: in ARPROCD; neonatal purpura fulminans, MIM: 612304<li>P->L at 369: in ADPROCD; Osaka-6, MIM: 176860<li>M->I at 385: in patients with PROC deficiency, MIM: 176860<li>A->T at 388: in patients with PROC deficiency, MIM: 176860<li>A->V at 388: in patients with PROC deficiency, MIM: 176860<li>G->R at 392: in ADPROCD; Osaka-9, MIM: 176860<li>R->W at 394: in patients with PROC deficiency, MIM: 176860<li>D->N at 401: in ADPROCD; La Jolla-2/Osaka-7 and -8, MIM: 176860<li>G->D at 418: in ARPROCD; Hong Kong-2, MIM: 612304<li>G->S at 423: in ADPROCD, MIM: 176860<li>C->Y at 426: in ADPROCD, MIM: 176860<li>G->S at 433: in patients with PROC deficiency; Purmerend, MIM: 176860<li>T->N at 436: in ADPROCD, MIM: 176860<li>Y->H at 441: in ADPROCD; Osaka-4, MIM: 176860<li>W->C at 444: in ADPROCD, MIM: 176860<li>I->M at 445: in patients with PROC deficiency, MIM: 176860</ul>							<li>Q28315</li><li>Q28412</li><li>Q28661</li><li>Q04708</li><li>P04070</li><li>Q28278</li><li>Q9GLP2</li><li>Q28506</li><li>Q28380</li><li>P00745</li>	<li>Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]</li><li>Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]</li>	<li>rs28933987</li><li>rs28933986</li>	2
P04075	226	<ul><li>E->Q at 82: in dbSNP:rs11553107<li>D->G at 129: in aldolase A deficiency; thermolabile, MIM: 611881<li>G->V at 142: in dbSNP:rs11553108, MIM: 611881<li>E->K at 207: in aldolase A deficiency; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity, MIM: 611881<li>C->Y at 339: in aldolase A deficiency, MIM: 611881<li>G->S at 347: in aldolase A deficiency; does not affect thermal stability; 4-fold decrease in catalytic efficiency due to reduced enzyme activity, MIM: 611881</ul>								Aldolase A deficiency [MIM:611881]	<li>rs11553108</li><li>rs11553107</li>	2
P04080	1476	<ul><li>G->R at 4: in EPM1, MIM: 254800</ul>								Progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]		2
P04090	6019	<ul><li>V->F at 12: in dbSNP:rs2020050<li>M->K at 28: in dbSNP:rs618066<li>P->Q at 68: in dbSNP:rs2273783</ul>									<li>rs2020050</li><li>rs2273783</li><li>rs618066</li>	2
P04114	338	<ul><li>T->I at 98: in dbSNP:rs1367117<li>Y->H at 103: in dbSNP:rs9282603<li>P->S at 145: in dbSNP:rs6752026<li>N->K at 273: in dbSNP:rs1126419<li>I->T at 408: in dbSNP:rs12714225<li>R->W at 490: in FHBL; reduced protein secretion, MIM: 107730<li>P->L at 554: in dbSNP:rs12714214, MIM: 107730<li>A->V at 618: in dbSNP:rs679899, MIM: 107730<li>V->I at 730: in dbSNP:rs12691202, MIM: 107730<li>V->I at 733: in dbSNP:rs1800476, MIM: 107730<li>T->N at 741: in dbSNP:rs12714192, MIM: 107730<li>P->L at 877: in dbSNP:rs12714097, MIM: 107730<li>G->S at 1086: in dbSNP:rs12720801, MIM: 107730<li>D->H at 1113: in dbSNP:rs12713844, MIM: 107730<li>R->H at 1128: in dbSNP:rs12713843, MIM: 107730<li>E->Q at 1218: in dbSNP:rs1041956, MIM: 107730<li>R->H at 1388: in dbSNP:rs13306187, MIM: 107730<li>F->L at 1437: in dbSNP:rs1801697, MIM: 107730<li>N->S at 1914: in dbSNP:rs1801699, MIM: 107730<li>H->R at 1923: in dbSNP:rs533617, MIM: 107730<li>V->L at 2092: in dbSNP:rs1041960, MIM: 107730<li>D->H at 2299: in dbSNP:rs12713681, MIM: 107730<li>T->A at 2365: in dbSNP:rs1041971, MIM: 107730<li>A->D at 2456: in dbSNP:rs12713675, MIM: 107730<li>F->C at 2564: in a colorectal cancer sample; somatic mutation, MIM: 107730<li>E->K at 2566: in dbSNP:rs1801696, MIM: 107730<li>Q->L at 2680: in dbSNP:rs1042013, MIM: 107730<li>P->L at 2739: in dbSNP:rs676210, MIM: 107730<li>N->H at 2785: in dbSNP:rs2163204, MIM: 107730<li>A->T at 3121: in dbSNP:rs1801694, MIM: 107730<li>H->N at 3182: in dbSNP:rs12720848, MIM: 107730<li>S->G at 3279: in dbSNP:rs12720854, MIM: 107730<li>S->P at 3294: in dbSNP:rs12720855, MIM: 107730<li>H->D at 3319: in dbSNP rsrs1042021, MIM: 107730<li>K->T at 3427: in dbSNP rsrs1042022, MIM: 107730<li>E->Q at 3432: in dbSNP:rs1042023, MIM: 107730<li>R->Q at 3527: in FDB; dbSNP:rs5742904, MIM: 144010<li>R->C at 3558: in FDB; dbSNP:rs12713559, MIM: 144010<li>R->Q at 3638: in dbSNP:rs1801701, MIM: 144010<li>T->I at 3732: in dbSNP:rs1042025, MIM: 144010<li>S->T at 3801: in dbSNP:rs12713540, MIM: 144010<li>V->I at 3921, MIM: 144010<li>T->A at 3945: in dbSNP:rs1801698, MIM: 144010<li>L->F at 3949: in dbSNP:rs1042027, MIM: 144010<li>F->Y at 3964: in dbSNP:rs1126468, MIM: 144010<li>V->M at 4128: in dbSNP:rs1801703, MIM: 144010<li>K->E at 4181: in dbSNP:rs1042031, MIM: 144010<li>R->T at 4270: in dbSNP:rs1801702, MIM: 144010<li>N->S at 4338: in dbSNP:rs1042034, MIM: 144010<li>V->A at 4394: in dbSNP:rs12720843, MIM: 144010<li>A->T at 4481: in dbSNP:rs1801695, MIM: 144010<li>T->M at 4484: in dbSNP:rs12713450, MIM: 144010</ul>	protein secretion	GO:0009306					P81539	<li>Familial hypobetalipoproteinemia (FHBL) [MIM:107730]</li><li>Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]</li>	<li>rs1126468</li><li>rs1041971</li><li>rs12713675</li><li>rs5742904</li><li>rs12720848</li><li>rs12720801</li><li>rs12713559</li><li>rs12720843</li><li>rs1126419</li><li>rs533617</li><li>rs679899</li><li>rs1042013</li><li>rs12720854</li><li>rs12720855</li><li>rs1042025</li><li>rs1042027</li><li>rs1042021</li><li>rs676210</li><li>rs1042023</li><li>rs1042022</li><li>rs1801701</li><li>rs1801699</li><li>rs1801698</li><li>rs1801697</li><li>rs9282603</li><li>rs12714192</li><li>rs1801696</li><li>rs12713843</li><li>rs1801695</li><li>rs12713844</li><li>rs1801694</li><li>rs12691202</li><li>rs12713540</li><li>rs1041956</li><li>rs1801703</li><li>rs1801702</li><li>rs13306187</li><li>rs1367117</li><li>rs12714225</li><li>rs1042034</li><li>rs12713450</li><li>rs1042031</li><li>rs6752026</li><li>rs12714097</li><li>rs1041960</li><li>rs1800476</li><li>rs12713681</li><li>rs12714214</li><li>rs2163204</li>	2
P04118	1208	<ul><li>L->P at 8: in dbSNP:rs2766597<li>R->C at 109: in dbSNP rsrs41270082</ul>									<li>rs2766597</li><li>rs41270082</li>	2
P04141	1437	<ul><li>T->I at 115: in dbSNP:rs2069640<li>I->T at 117: in dbSNP:rs25882</ul>									<li>rs25882</li><li>rs2069640</li>	2
P04150	2908	<ul><li>R->K at 23: in dbSNP:rs6190<li>F->L at 29<li>F->V at 65: in dbSNP:rs6192<li>L->F at 112<li>D->N at 233<li>N->S at 363: may increase sensitivity to exogenously administered glucocorticoids; may contribute to central obesity in men and show lack of association with other risk factors for coronary heart disease and diabetes mellitus; dbSNP:rs6195: in dbSNP rsrs56149945<li>C->Y at 421: in a glucocorticoid resistant leukemia cell line<li>R->H at 477: in glucocorticoid resistance, MIM: 138040<li>I->N at 559: in glucocorticoid resistance; interferes with translocation to the nucleus and thereby strongly reduces transcription activation. Is equally impaired in nuclear export. Acts as dominant negative mutant, MIM: 138040<li>V->A at 571: in pseudohermaphroditism; female with hypokalemia due to glucocorticoid resistance; 6-fold reduction in binding affinity compared with the wild-type receptor, MIM: 138040<li>D->V at 641: in glucocorticoid resistance, MIM: 138040<li>G->S at 679: in glucocorticoid resistance; has 50% binding affinity, MIM: 138040<li>V->I at 729: in glucocorticoid resistance, MIM: 138040<li>I->M at 747: in glucocorticoid resistance; alters interaction with NCOA2 and strongly reduces transcription activation; acts as dominant negative mutant, MIM: 138040<li>L->F at 753: in two glucocorticoid resistant leukemia cell lines lacking the normal allele, MIM: 138040</ul>	<li>nuclear export</li><li>transcription</li>	<li>GO:0051168</li><li>GO:0006350</li>	binding	GO:0005488	nucleus	GO:0005634	Q15596	Glucocorticoid resistance [MIM:138040]	<li>rs56149945</li><li>rs6192</li><li>rs6190</li>	2
P04155	7031	<ul><li>T->I at 22: in dbSNP:rs34795821<li>T->I at 32: in gastric carcinoma; somatic mutation<li>T->K at 32: in gastric carcinoma; somatic mutation<li>A->D at 34: in gastric carcinoma; somatic mutation. Abolishes inhibition of gastric cancer cell growth. Abolishes inhibition of apoptosis in gasterointestinal epithelial cells. Increases invasive activity in epithelial cells<li>E->K at 37: in gastric carcinoma; somatic mutation. Abolishes inhibition of gastric cancer cell growth. Abolishes inhibition of apoptosis in gasterointestinal epithelial cells. Increases invasive activity in epithelial cells<li>V->I at 46: in gastric adenoma; somatic mutation<li>G->V at 55: in gastric carcinoma; somatic mutation</ul>	apoptosis	GO:0006915							rs34795821	2
P04156	5621	<ul><li>Missing at 56-63<li>P->L at 102: in GSD and early-onset dementia, MIM: 137440<li>P->L at 105: in GSD, MIM: 137440<li>A->V at 117: linked to development of dementing Gerstmann-Straussler disease, MIM: 137440<li>M->V at 129: polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990, MIM: 137440<li>G->V at 131: in GSD, MIM: 137440<li>N->S at 171: in schizoaffective disorder; dbSNP:rs16990018, MIM: 137440<li>D->N at 178: in FFI and CJD, MIM: 600072<li>V->I at 180: in CJD, MIM: 123400<li>T->A at 183: in familial spongiform encephalopathy, MIM: 123400<li>H->R at 187: in GSD, MIM: 137440<li>T->K at 188: in early-onset dementia; dementia associated to prion diseases, MIM: 137440<li>T->R at 188, MIM: 137440<li>E->K at 196: in CJD, MIM: 123400<li>F->S at 198: in GSD; atypical form with neurofibrillary tangles, MIM: 137440<li>E->K at 200: in CJD: in dbSNP rsrs28933385, MIM: 123400<li>D->N at 202: in GSD, MIM: 137440<li>V->I at 203: in CJD; it could be an extremely rare polymorphism, MIM: 123400<li>R->H at 208: in CJD, MIM: 123400<li>V->I at 210: in CJD, MIM: 123400<li>E->Q at 211: in CJD, MIM: 123400<li>Q->P at 212: in GSD, MIM: 137440<li>Q->R at 217: in GSD; with neurofibrillary tangles, MIM: 137440<li>E->K at 219: in dbSNP:rs1800014, MIM: 137440<li>M->R at 232: in CJD, MIM: 123400<li>P->S at 238, MIM: 123400</ul>	development	GO:0007275					<li>P67992</li><li>P67991</li><li>P67994</li><li>P67993</li><li>P40247</li><li>P67996</li><li>P40246</li><li>P67995</li><li>Q7JIY2</li><li>P40249</li><li>O46501</li><li>P40248</li><li>P67997</li><li>P40243</li><li>P23907</li><li>P40242</li><li>P40245</li><li>P40244</li><li>Q5UJI7</li><li>P51446</li><li>P47852</li><li>P61768</li><li>P61766</li><li>P61767</li><li>P40257</li><li>P40258</li><li>P61762</li><li>P61761</li><li>Q95211</li><li>P40255</li><li>P40256</li><li>P40251</li><li>P40252</li><li>Q60506</li><li>Q5UJH8</li><li>P52113</li><li>P52114</li><li>P67987</li><li>P67986</li><li>Q95270</li><li>Q95174</li><li>Q5UJH0</li><li>P13852</li><li>Q95176</li><li>P67989</li><li>P67988</li><li>Q7JIH3</li><li>Q5UAF1</li><li>Q7JK02</li><li>P67990</li><li>P04273</li><li>P04925</li><li>Q5UJG7</li><li>Q68G95</li><li>Q5UJG3</li><li>Q95M08</li><li>Q5UJG1</li><li>P79141</li><li>Q5XVM4</li><li>P10279</li><li>O18754</li><li>Q9Z0T3</li><li>Q60468</li><li>P51780</li><li>Q6EH52</li><li>P49927</li><li>P04156</li>	<li>Gerstmann-Straussler disease (GSD) [MIM:137440]</li><li>Fatal familial insomnia (FFI) [MIM:600072]</li><li>Creutzfeldt-Jakob disease (CJD) [MIM:123400]</li>	<li>rs1799990</li><li>rs16990018</li><li>rs28933385</li><li>rs1800014</li>	2
P04179	6648	<ul><li>S->I at 10: in dbSNP:rs5746096<li>A->V at 16: very frequent polymorphism; associated with susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes; dbSNP:rs4880<li>E->V at 66: in dbSNP:rs5746097<li>G->R at 76: in dbSNP:rs4987023<li>I->T at 82: in dbSNP:rs1141718<li>R->W at 156: in dbSNP:rs5746129</ul>									<li>rs4880</li><li>rs5746129</li><li>rs5746096</li><li>rs1141718</li><li>rs5746097</li><li>rs4987023</li>	2
P04180	3931	<ul><li>L->LLLPPAAPFWL at 17: in LCATD<li>N->I at 29: in LCATD, MIM: 245900<li>P->L at 34: in FED, MIM: 136120<li>P->Q at 34: in FED, MIM: 136120<li>T->M at 37: in LCATD, MIM: 245900<li>G->S at 54: in LCATD, MIM: 245900<li>G->R at 57: in LCATD, MIM: 245900<li>V->E at 70: in FED, MIM: 136120<li>G->R at 95: in a compound heterozygote carrying H-164; intermediate phenotype between LCATD and FED; reduction of activity, MIM: 136120<li>S->P at 115, MIM: 136120<li>A->T at 117: in LCATD; dbSNP:rs28940886, MIM: 245900<li>R->C at 123: in FED, MIM: 136120<li>T->I at 147: in FED, MIM: 136120<li>R->Q at 159: in FED, MIM: 136120<li>R->W at 159: in LCATD: in dbSNP rsrs28940887, MIM: 245900<li>R->C at 164: in LCATD, MIM: 245900<li>R->H at 164: in LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity, MIM: 245900<li>A->T at 165, MIM: 245900<li>R->W at 171: in LCATD, MIM: 245900<li>Y->N at 180: in LCATD, MIM: 245900<li>R->C at 182, MIM: 245900<li>S->N at 205: in LCATD, MIM: 245900<li>S->T at 232: in dbSNP:rs4986970, MIM: 245900<li>L->P at 233: in LCATD: in dbSNP rsrs28942087, MIM: 245900<li>K->N at 242: in LCATD, MIM: 245900<li>N->K at 252: in LCATD, MIM: 245900<li>R->H at 268: in LCATD, MIM: 245900<li>M->K at 276: in FED, MIM: 136120<li>T->A at 298: in FED and LCATD, MIM: 245900<li>T->I at 298: in LCATD, MIM: 245900<li>M->I at 317: in LCATD; partially defective enzyme, MIM: 245900<li>P->S at 331: in LCATD, MIM: 245900<li>V->M at 333: in LCATD, MIM: 245900<li>T->M at 345: in LCATD: in dbSNP rsrs28940888, MIM: 245900<li>T->M at 371: in FED, MIM: 136120<li>L->R at 396: in a patient with LCATD, MIM: 136120<li>F->V at 406: in LCATD, MIM: 245900</ul>								<li>Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]</li><li>Fish-eye disease (FED) [MIM:136120]</li>	<li>rs28942087</li><li>rs4986970</li><li>rs28940888</li><li>rs28940886</li><li>rs28940887</li>	2
P04181	4942	<ul><li>N->K at 54: in HOGA, MIM: 258870<li>Y->H at 55: in HOGA, MIM: 258870<li>N->K at 89: in HOGA, MIM: 258870<li>Q->E at 90: in HOGA; mistargeted, accumulates in cytoplasm, MIM: 258870<li>C->F at 93: in HOGA, MIM: 258870<li>R->L at 154: in HOGA; complete loss of activity, MIM: 258870<li>R->T at 180: in HOGA; complete loss of activity, MIM: 258870<li>Missing  at 184: in HOGA, MIM: 258870<li>A->V at 226: in HOGA, MIM: 258870<li>P->L at 241: in HOGA, MIM: 258870<li>Y->C at 245: in HOGA, MIM: 258870<li>R->P at 250: in HOGA, MIM: 258870<li>T->I at 267: in HOGA, MIM: 258870<li>A->P at 270: in HOGA, MIM: 258870<li>R->K at 271: in HOGA, MIM: 258870<li>H->Y at 319: in HOGA, MIM: 258870<li>V->M at 332: in HOGA, MIM: 258870<li>G->D at 353: in HOGA, MIM: 258870<li>G->A at 375: in HOGA, MIM: 258870<li>C->R at 394: in HOGA, MIM: 258870<li>L->P at 402: in HOGA, MIM: 258870<li>P->L at 417: in HOGA, MIM: 258870<li>L->F at 437: in dbSNP:rs1800456, MIM: 258870</ul>					cytoplasm	GO:0005737		Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	rs1800456	2
P04196	3273	<ul><li>S->L at 79: in dbSNP:rs4516605<li>D->G at 118: in dbSNP:rs3733008<li>I->T at 180: in dbSNP:rs10770<li>P->S at 204: in dbSNP:rs9898<li>H->R at 340: in dbSNP:rs2228243<li>G->R at 436: in dbSNP:rs2229331<li>R->C at 448: in dbSNP:rs1042445<li>N->I at 493: in dbSNP:rs1042464</ul>									<li>rs2229331</li><li>rs4516605</li><li>rs1042445</li><li>rs10770</li><li>rs9898</li><li>rs1042464</li><li>rs2228243</li><li>rs3733008</li>	2
P04198	4613	<ul><li>R->H at 393: in Feingold syndrome, MIM: 164280<li>R->S at 393: in Feingold syndrome, MIM: 164280<li>R->H at 394: in Feingold syndrome, MIM: 164280</ul>								Feingold syndrome [MIM:164280]		2
P04217		<ul><li>R->H at 52: in dbSNP:rs893184<li>H->R at 395: in dbSNP:rs2241788</ul>									<li>rs2241788</li><li>rs893184</li>	2
P04222		<ul><li>K->N at 90: in allele Cw*0308<li>S->N at 101: in allele Cw*0307<li>N->K at 104: in allele Cw*0307<li>G->R at 115: in allele Cw*0303 and allele Cw*0313<li>I->T at 118: in allele Cw*0305 and allele Cw*0313<li>I->L at 119: in allele Cw*0302, allele Cw*0305 and allele Cw*0313<li>R->S at 121: in allele Cw*0305<li>V->L at 127: in allele Cw*0309<li>D->V at 138: in allele Cw*0306<li>Y->S at 140: in allele Cw*0302</ul>										2
P04226	731682	<ul><li>S->F at 41: in dbSNP:rs1071630<li>F->Y at 48: in dbSNP:rs12722051<li>T->S at 49: in dbSNP:rs3188011<li>E->Q at 57: in dbSNP:rs10093<li>S->Y at 102: in dbSNP:rs1129808</ul>									<li>rs12722051</li><li>rs1071630</li><li>rs1129808</li><li>rs10093</li><li>rs3188011</li>	2
P04229		<ul><li>T->A at 13: in dbSNP:rs1059553<li>A->S at 29: in dbSNP:rs9270299<li>R->K at 33: in dbSNP:rs34716432<li>R->Q at 33: in dbSNP:rs34716432<li>Q->E at 39: in allele DRB1*0107<li>S->Y at 66: in dbSNP:rs16822820<li>G->R at 74: in allele DRB1*0105<li>Y->F at 76: in dbSNP:rs1060346<li>Y->S at 89: in dbSNP:rs36074728<li>L->I at 96: in allele DRB1*0103<li>Q->D at 99: in allele DRB1*0103; requires 2 nucleotide substitutions<li>Q->E at 99: in dbSNP:rs34202790<li>Q->H at 99: in dbSNP:rs17879599<li>R->A at 100: in allele DRB1*0106; requires 2 nucleotide substitutions<li>R->E at 100: in allele DRB1*0103; requires 2 nucleotide substitutions<li>A->G at 102: in dbSNP:rs17878857<li>A->E at 103: in dbSNP:rs16822805<li>T->N at 106: in allele DRB1*0104; dbSNP:rs16822752<li>Y->H at 107: in dbSNP:rs16822512<li>V->A at 114: in allele DRB1*0102; dbSNP:rs17424145<li>G->V at 115: in allele DRB1*0102, allele DRB1*0104 and allele DRB1*0106; dbSNP:rs34610432<li>G->D at 164: in dbSNP:rs1059633<li>A->T at 169: in dbSNP:rs2308768<li>V->M at 171: in dbSNP:rs701829<li>Q->H at 178: in dbSNP:rs701830<li>R->Q at 195: in dbSNP:rs3205588<li>T->I at 210: in dbSNP:rs17423930<li>V->M at 236: in dbSNP:rs2230816<li>Q->E at 253: in allele DRB1*0102</ul>							Q8IUH3		<li>rs16822820</li><li>rs1060346</li><li>rs16822805</li><li>rs9270299</li><li>rs1059633</li><li>rs1059553</li><li>rs701830</li><li>rs34202790</li><li>rs36074728</li><li>rs2230816</li><li>rs17423930</li><li>rs34716432</li><li>rs2308768</li><li>rs701829</li><li>rs3205588</li><li>rs17879599</li><li>rs16822512</li><li>rs17878857</li>	2
P04234	915	<ul><li>Q->R at 147: in dbSNP:rs45510201</ul>									rs45510201	2
P04259	3854	<ul><li>N->S at 21: in dbSNP:rs428894<li>S->N at 227: in dbSNP:rs652423<li>V->I at 365: in dbSNP:rs437014<li>E->K at 472: in PC2: in dbSNP rsrs60627726, MIM: 167210</ul>							<li>P21661</li><li>Q03333</li><li>P28841</li><li>P16519</li><li>Q9GLR0</li><li>Q5REC2</li>	Pachyonychia congenita type 2 (PC2) [MIM:167210]	<li>rs60627726</li><li>rs652423</li><li>rs428894</li><li>rs437014</li>	2
P04264	3848	<ul><li>K->I at 74: in NEPPK: in dbSNP rsrs57977969, MIM: 600962<li>V->D at 155: in BCIE, MIM: 113800<li>V->G at 155: in BCIE: in dbSNP rsrs57959072, MIM: 113800<li>L->P at 161: in BCIE: in dbSNP rsrs57695159, MIM: 113800<li>Missing  at 176-197: in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas, MIM: 113800<li>S->P at 186: in BCIE: in dbSNP rsrs60022878, MIM: 113800<li>N->K at 188: in BCIE: in dbSNP rsrs59429455, MIM: 113800<li>N->S at 188: in BCIE: in dbSNP rsrs58928370, MIM: 113800<li>N->T at 188: in BCIE; severe, MIM: 113800<li>S->P at 193: in BCIE: in dbSNP rsrs60937700, MIM: 113800<li>L->P at 214: in BCIE: in dbSNP rsrs61549035, MIM: 113800<li>I->V at 312, MIM: 113800<li>I->T at 330, MIM: 113800<li>D->V at 340: in BCIE: in dbSNP rsrs58062863, MIM: 113800<li>N->Y at 358: in dbSNP:rs1050872, MIM: 113800<li>A->S at 454: in dbSNP:rs17678945, MIM: 113800<li>Missing  at 459-466: in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas, MIM: 113800<li>I->F at 479: in AEI: in dbSNP rsrs61218439, MIM: 607602<li>I->T at 479: in AEI and BCIE: in dbSNP rsrs57837128, MIM: 607602<li>Y->C at 482: in BCIE: in dbSNP rsrs58420087, MIM: 113800<li>L->P at 486: in BCIE: in dbSNP rsrs56914602, MIM: 113800<li>E->Q at 490: in BCIE: in dbSNP rsrs60279707, MIM: 113800<li>G->C at 537, MIM: 113800<li>Missing  at 560-566: in allele 1B, MIM: 113800<li>R->K at 633: in dbSNP:rs14024, MIM: 113800</ul>							P08478	<li>Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]</li><li>Ichthyosis annular epidermolytic (AEI) [MIM:607602]</li><li>Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]</li>	<li>rs1050872</li><li>rs61549035</li><li>rs61218439</li><li>rs60022878</li><li>rs60279707</li><li>rs57959072</li><li>rs60937700</li><li>rs17678945</li><li>rs56914602</li><li>rs59429455</li><li>rs57837128</li><li>rs58420087</li><li>rs58062863</li><li>rs57977969</li><li>rs57695159</li><li>rs14024</li><li>rs58928370</li>	2
P04275	7450	<ul><li>R->W at 273: in VWD; type I/III; defect in secretion and formation of multimers, MIM: 193400<li>W->C at 377: in VWD; type III, MIM: 193400<li>H->R at 484: in dbSNP:rs1800378, MIM: 193400<li>N->S at 528: in VWD; type IIC, MIM: 193400<li>G->R at 550: in VWD; type IIC: in dbSNP rsrs61754011, MIM: 193400<li>C->Y at 788: in VWD; type II, MIM: 193400<li>T->A at 789: in dbSNP:rs1063856, MIM: 193400<li>T->M at 791: in Normandy-1, MIM: 193400<li>R->W at 816: in Normandy-2, MIM: 193400<li>R->Q at 852: in dbSNP:rs216321, MIM: 193400<li>R->Q at 854: in Normandy-3: in dbSNP rsrs41276738, MIM: 193400<li>N->D at 857, MIM: 193400<li>C->R at 1060: in VWD; type IIN, MIM: 193400<li>P->L at 1266: in VWD; type I, MIM: 193400<li>H->D at 1268: in VWD; type IIB, MIM: 193400<li>C->R at 1272: in VWD; type IIA, MIM: 193400<li>R->W at 1306: in VWD; type IIB, MIM: 193400<li>R->C at 1308: in VWD; type IIB, MIM: 193400<li>W->C at 1313: in VWD; type IIB, MIM: 193400<li>V->L at 1314: in VWD; type IIB, MIM: 193400<li>V->M at 1316: in VWD; type IIB, MIM: 193400<li>V->L at 1318: in VWD; type IIB, MIM: 193400<li>G->S at 1324: in VWD; type IIB, MIM: 193400<li>R->Q at 1341: in VWD; type IIB, MIM: 193400<li>R->C at 1374: in VWD, MIM: 193400<li>R->H at 1374: in VWD, MIM: 193400<li>A->T at 1381: in dbSNP:rs216311, MIM: 193400<li>R->H at 1399: in dbSNP:rs216312, MIM: 193400<li>L->V at 1460: in VWD; type IIB, MIM: 193400<li>A->V at 1461: in VWD; type IIB, MIM: 193400<li>H->D at 1472: in dbSNP:rs1800383, MIM: 193400<li>F->C at 1514: in VWD; type IIA, MIM: 193400<li>L->P at 1540: in VWD; type IIA, MIM: 193400<li>V->L at 1565: in dbSNP:rs1800385, MIM: 193400<li>Y->C at 1570: in a breast cancer sample; somatic mutation, MIM: 193400<li>Y->C at 1584: in dbSNP:rs1800386, MIM: 193400<li>R->G at 1597: in VWD; type IIA, MIM: 193400<li>R->Q at 1597: in VWD; type IIA, MIM: 193400<li>R->W at 1597: in VWD; type IIA, MIM: 193400<li>V->D at 1607: in VWD; type IIA, MIM: 193400<li>G->R at 1609: in VWD; type IIA, MIM: 193400<li>S->P at 1613: in VWD; type IIA, MIM: 193400<li>I->T at 1628: in VWD; type IIA, MIM: 193400<li>E->K at 1638: in VWD; type IIA, MIM: 193400<li>P->S at 1648: in VWD; type IIA, MIM: 193400<li>V->E at 1665: in VWD; type IIA, MIM: 193400<li>P->S at 2063: in VWD; type III, MIM: 193400<li>C->F at 2362: in VWD; type III, MIM: 193400<li>N->Y at 2546: in VWD; type III, MIM: 193400<li>C->Y at 2739: in VWD; type III, MIM: 193400<li>C->R at 2773: in VWD; type IID, MIM: 193400</ul>	secretion	GO:0046903						Various forms of von Willebrand disease (VWD) [MIM:193400, 277480]	<li>rs1800378</li><li>rs1800386</li><li>rs1800385</li><li>rs216311</li><li>rs216312</li><li>rs216321</li><li>rs61754011</li><li>rs1800383</li><li>rs41276738</li><li>rs1063856</li>	2
P04278	6462	<ul><li>R->H at 22: in dbSNP:rs9282845<li>R->H at 25: in dbSNP:rs6260<li>P->L at 185: in dbSNP:rs6258<li>D->N at 356: in dbSNP:rs6259</ul>									<li>rs6259</li><li>rs6258</li><li>rs9282845</li><li>rs6260</li>	2
P04279	6406	<ul><li>E->G at 58: in dbSNP:rs11559137<li>S->T at 79: less common genetic variant; dbSNP:rs2301366<li>H->R at 108: in dbSNP:rs2233884<li>R->L at 372: in dbSNP:rs2233887</ul>									<li>rs2233887</li><li>rs11559137</li><li>rs2233884</li><li>rs2301366</li>	2
P04280	5542	<ul><li>Missing  at 93-153: in allele M<li>Missing  at 106-319: in clone CP-5<li>Missing  at 106-299: in clone CP-4<li>Missing  at 134-255: in allele S</ul>							P81350			2
P04350	10382	<ul><li>I->M at 155: in dbSNP:rs1053262<li>A->V at 365: in dbSNP:rs1053267</ul>									<li>rs1053262</li><li>rs1053267</li>	2
P04406	2597	<ul><li>A->G at 22: in dbSNP rsrs45541435<li>K->N at 251: in dbSNP:rs1062429</ul>									<li>rs1062429</li><li>rs45541435</li>	2
P04424	435	<ul><li>D->N at 31: in arginosuccinicaciduria, MIM: 207900<li>R->C at 95: in arginosuccinicaciduria; dbSNP:rs28940585, MIM: 207900<li>R->W at 111: in arginosuccinicaciduria, MIM: 207900<li>R->Q at 113: in arginosuccinicaciduria, MIM: 207900<li>V->M at 178: in arginosuccinicaciduria: in dbSNP rsrs28941473, MIM: 207900<li>T->S at 181: in a breast cancer sample; somatic mutation, MIM: 207900<li>R->Q at 186: in arginosuccinicaciduria, MIM: 207900<li>R->Q at 193: in arginosuccinicaciduria, MIM: 207900<li>G->V at 200: in a breast cancer sample; somatic mutation, MIM: 207900<li>R->W at 236: in arginosuccinicaciduria, MIM: 207900<li>Q->R at 286: in arginosuccinicaciduria; dbSNP:rs28941472, MIM: 207900<li>V->L at 335: in arginosuccinicaciduria, MIM: 207900<li>R->C at 379: in arginosuccinicaciduria: in dbSNP rsrs28940287, MIM: 207900<li>M->R at 382: in arginosuccinicaciduria, MIM: 207900<li>R->C at 385: in arginosuccinicaciduria: in dbSNP rsrs28940286, MIM: 207900<li>R->W at 456: in arginosuccinicaciduria, MIM: 207900</ul>								Arginosuccinicaciduria [MIM:207900]	<li>rs28940287</li><li>rs28940286</li><li>rs28940585</li><li>rs28941473</li><li>rs28941472</li>	2
P04439	3105	<ul><li>R->G at 89: in dbSNP:rs1059459<li>Q->H at 94: in dbSNP:rs1059463<li>D->N at 101: in dbSNP:rs1136688<li>I->M at 121: in dbSNP:rs1136695<li>S->P at 129: in dbSNP:rs1136700<li>G->W at 131: in dbSNP:rs1136702<li>F->L at 133: in dbSNP:rs1059488<li>N->K at 151: in dbSNP:rs1059509<li>I->T at 166: in dbSNP:rs1059516<li>R->H at 169: in dbSNP:rs1059520<li>E->V at 176: in allele A*0302: in dbSNP rsrs9256983<li>L->Q at 180: in allele A*0302<li>D->E at 185: in allele A*0305; dbSNP:rs1059542<li>G->A at 186: in allele A*03011: in dbSNP rsrs41545519<li>G->R at 199: in allele A*0304: in dbSNP rsrs41559916<li>R->H at 205: in dbSNP:rs17185861</ul>									<li>rs1059520</li><li>rs1059542</li><li>rs1059488</li><li>rs1059459</li><li>rs1136688</li><li>rs1136695</li><li>rs9256983</li><li>rs1059463</li><li>rs1059509</li><li>rs17185861</li><li>rs1136700</li><li>rs1059516</li><li>rs41559916</li><li>rs1136702</li><li>rs41545519</li>	2
P04440	3115	<ul><li>L->V at 37: in dbSNP:rs1126504<li>F->Y at 38: in dbSNP:rs1126509<li>G->V at 40: in dbSNP:rs1126513<li>E->Q at 62: in dbSNP:rs12722018<li>F->Y at 64: in dbSNP:rs1042117<li>A->V at 65: in dbSNP:rs1042121<li>A->D at 84: in dbSNP:rs707958<li>A->E at 85: in dbSNP:rs1042131<li>E->D at 86: in dbSNP:rs1042133<li>K->E at 98: in dbSNP:rs1042140<li>K->R at 98: in dbSNP:rs12722027<li>M->I at 105: in dbSNP:rs1042153<li>M->V at 105: in dbSNP:rs1042151<li>G->E at 114: in dbSNP:rs9277354<li>P->A at 115: in dbSNP:rs9277355<li>M->V at 116: in dbSNP:rs9277356<li>L->M at 207: in dbSNP:rs14362<li>R->Q at 223: in dbSNP:rs9276<li>V->M at 234: in dbSNP:rs11551421<li>I->T at 244: in dbSNP:rs3097675</ul>									<li>rs11551421</li><li>rs9276</li><li>rs1042121</li><li>rs1042131</li><li>rs1042151</li><li>rs1042133</li><li>rs1042140</li><li>rs3097675</li><li>rs1042117</li><li>rs12722018</li><li>rs12722027</li><li>rs1126509</li><li>rs9277354</li><li>rs14362</li><li>rs9277355</li><li>rs9277356</li><li>rs707958</li><li>rs1126504</li><li>rs1126513</li><li>rs1042153</li>	2
P04626	2064	<ul><li>W->C at 452: in dbSNP rsrs4252633<li>I->V at 654: in allele B3; dbSNP:rs1801201<li>I->V at 655: in allele B2 and allele B3; dbSNP:rs1136201<li>L->S at 768: in dbSNP rsrs56366519<li>G->S at 776: in a gastric adenocarcinoma sample; somatic mutation: in dbSNP rsrs28933369<li>N->S at 857: in dbSNP:rs28933370<li>P->A at 1170: in dbSNP rsrs1058808,rs61552325<li>A->D at 1216: in dbSNP rsrs55943169</ul>									<li>rs1801201</li><li>rs28933369</li><li>rs1058808</li><li>rs4252633</li><li>rs61552325</li><li>rs1136201</li><li>rs55943169</li><li>rs28933370</li><li>rs56366519</li>	2
P04629	4914	<ul><li>G->E at 18: in dbSNP:rs1007211<li>Q->R at 80: in dbSNP rsrs55891455<li>R->S at 85<li>L->P at 93: in CIPA, MIM: 256800<li>A->V at 107: in an ovarian serous carcinoma sample; somatic mutation, MIM: 256800<li>L->P at 213: in CIPA, MIM: 256800<li>T->M at 237: in dbSNP rsrs55909005, MIM: 256800<li>V->G at 238: in dbSNP rsrs56000394, MIM: 256800<li>R->G at 260: in dbSNP rsrs35116695, MIM: 256800<li>R->Q at 444: in dbSNP rsrs56320207, MIM: 256800<li>R->C at 452: in dbSNP:rs34900547, MIM: 256800<li>G->R at 522: in CIPA, MIM: 256800<li>M->T at 566: in dbSNP rsrs55892037, MIM: 256800<li>G->R at 577: in CIPA; loss of function, MIM: 256800<li>M->V at 587: in CIPA, MIM: 256800<li>H->Y at 604: in dbSNP:rs6336, MIM: 256800<li>G->V at 613: in dbSNP:rs6339, MIM: 256800<li>R->W at 649: in CIPA, MIM: 256800<li>R->C at 654: in CIPA, MIM: 256800<li>D->Y at 674: in CIPA, MIM: 256800<li>P->L at 695: in CIPA, MIM: 256800<li>G->S at 714: in CIPA, MIM: 256800<li>R->P at 780: in CIPA; loss of function, MIM: 256800<li>R->Q at 780: in dbSNP rsrs35669708, MIM: 256800<li>V->I at 790: in dbSNP rsrs55948542, MIM: 256800</ul>								Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	<li>rs35669708</li><li>rs55891455</li><li>rs35116695</li><li>rs6339</li><li>rs34900547</li><li>rs55909005</li><li>rs6336</li><li>rs56320207</li><li>rs55892037</li><li>rs55948542</li><li>rs56000394</li><li>rs1007211</li>	2
P04632	826	<ul><li>M->V at 224: in dbSNP:rs17878750</ul>									rs17878750	2
P04637	7157	<ul><li>Q->H at 5: in a sporadic cancer; somatic mutation<li>S->L at 6: in a sporadic cancer; somatic mutation<li>D->H at 7: in a sporadic cancer; somatic mutation<li>P->S at 8: in a sporadic cancer; somatic mutation<li>V->I at 10: in a sporadic cancer; somatic mutation<li>E->K at 11: in sporadic cancers; somatic mutation<li>E->Q at 11: in sporadic cancers; somatic mutation<li>S->R at 15: in a sporadic cancer; somatic mutation<li>Q->L at 16: in a sporadic cancer; somatic mutation<li>E->D at 17: in a sporadic cancer; somatic mutation<li>K->N at 24: in a sporadic cancer; somatic mutation<li>E->A at 28: in a sporadic cancer; somatic mutation<li>NN->KD at 29-30: in a sporadic cancer; somatic mutation<li>V->I at 31: in sporadic cancers; somatic mutation<li>S->T at 33: in a sporadic cancer; somatic mutation<li>P->L at 34: in a sporadic cancer; somatic mutation<li>L->F at 35: in sporadic cancers; somatic mutation<li>P->L at 36: in a sporadic cancer; somatic mutation<li>S->P at 37: in a sporadic cancer; somatic mutation<li>S->T at 37: in a sporadic cancer; somatic mutation<li>A->P at 39: in a sporadic cancer; somatic mutation<li>A->V at 39: in a sporadic cancer; somatic mutation<li>D->Y at 42: in a sporadic cancer; somatic mutation<li>L->S at 43: in a sporadic cancer; somatic mutation<li>M->I at 44: in a sporadic cancer; somatic mutation<li>M->T at 44: in a sporadic cancer; somatic mutation<li>M->V at 44: in a sporadic cancer; somatic mutation<li>L->M at 45: in a sporadic cancer; somatic mutation<li>S->F at 46: in sporadic cancers; somatic mutation<li>S->P at 46: in sporadic cancers; somatic mutation: in dbSNP rsrs1800371<li>P->L at 47: in sporadic cancers; somatic mutation<li>P->S at 47: in dbSNP:rs1800371<li>D->G at 48: in a sporadic cancer; somatic mutation<li>D->H at 49: in sporadic cancers; somatic mutation<li>D->N at 49: in a sporadic cancer; somatic mutation<li>D->Y at 49: in sporadic cancers; somatic mutation<li>Q->H at 52: in a sporadic cancer; somatic mutation<li>W->C at 53: in sporadic cancers; somatic mutation<li>W->G at 53: in a sporadic cancer; somatic mutation<li>F->L at 54: in a sporadic cancer; somatic mutation<li>F->Y at 54: in a sporadic cancer; somatic mutation<li>E->K at 56: in sporadic cancers; somatic mutation<li>E->V at 56: in a sporadic cancer; somatic mutation<li>P->Q at 58: in a sporadic cancer; somatic mutation<li>P->T at 58: in a sporadic cancer; somatic mutation<li>G->C at 59: in sporadic cancers; somatic mutation<li>G->D at 59: in sporadic cancers; somatic mutation<li>G->N at 59: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions<li>P->L at 60: in sporadic cancers; somatic mutation<li>P->Q at 60: in a sporadic cancer; somatic mutation<li>P->S at 60: in a sporadic cancer; somatic mutation<li>D->G at 61: in sporadic cancers; somatic mutation<li>D->N at 61: in sporadic cancers; somatic mutation<li>E->D at 62: in a sporadic cancer; somatic mutation<li>A->T at 63: in a sporadic cancer; somatic mutation<li>A->V at 63: in a sporadic cancer; somatic mutation<li>R->T at 65: in a sporadic cancer; somatic mutation<li>M->I at 66: in a sporadic cancer; somatic mutation<li>M->R at 66: in a sporadic cancer; somatic mutation<li>P->L at 67: in sporadic cancers; somatic mutation<li>P->R at 67: in a sporadic cancer; somatic mutation<li>P->S at 67: in sporadic cancers; somatic mutation<li>E->G at 68: in sporadic cancers; somatic mutation<li>E->Q at 68: in a sporadic cancer; somatic mutation<li>A->D at 69: in a sporadic cancer; somatic mutation<li>A->G at 69: in sporadic cancers; somatic mutation<li>A->T at 69: in a sporadic cancer; somatic mutation<li>A->V at 69: in a sporadic cancer; somatic mutation<li>A->T at 70: in a sporadic cancer; somatic mutation<li>P->T at 71: in a sporadic cancer; somatic mutation<li>R->C at 72: in sporadic cancers; somatic mutation<li>R->G at 72: in sporadic cancers; somatic mutation<li>R->H at 72: in sporadic cancers; somatic mutation<li>R->L at 72: in a sporadic cancer; somatic mutation<li>R->P at 72: in dbSNP:rs1042522<li>V->E at 73: in a sporadic cancer; somatic mutation<li>V->L at 73: in sporadic cancers; somatic mutation<li>V->M at 73: in sporadic cancers; somatic mutation<li>A->T at 74: in a sporadic cancer; somatic mutation<li>P->L at 75: in sporadic cancers; somatic mutation<li>P->R at 75: in sporadic cancers; somatic mutation<li>P->S at 75: in a sporadic cancer; somatic mutation<li>A->G at 76: in a sporadic cancer; somatic mutation<li>A->T at 76: in a sporadic cancer; somatic mutation<li>P->A at 77: in sporadic cancers; somatic mutation<li>A->V at 78: in sporadic cancers; somatic mutation<li>A->G at 79: in a sporadic cancer; somatic mutation<li>A->T at 79: in a sporadic cancer; somatic mutation<li>A->V at 79: in sporadic cancers; somatic mutation<li>P->L at 80: in a sporadic cancer; somatic mutation<li>P->S at 80: in a sporadic cancer; somatic mutation<li>T->I at 81: in sporadic cancers; somatic mutation<li>P->L at 82: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 82: in sporadic cancers; somatic mutation, MIM: 151623<li>A->E at 83: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->V at 83: in sporadic cancers; somatic mutation, MIM: 151623<li>A->G at 84: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 84: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 85: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 85: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 86: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->Q at 87: in sporadic cancers; somatic mutation, MIM: 151623<li>A->T at 88: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->V at 88: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 89: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 89: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 90: in sporadic cancers; somatic mutation, MIM: 151623<li>S->Y at 90: in a sporadic cancer; somatic mutation, MIM: 151623<li>W->C at 91: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->A at 92: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 92: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 92: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->M at 93: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->P at 93: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->L at 94: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 94: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 95: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 95: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->C at 96: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->F at 96: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 96: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->A at 97: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->F at 97: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->I at 97: in familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 98: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 98: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 99: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 99: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->R at 100: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->N at 101: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->R at 101: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 102: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->H at 104: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->L at 104: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->C at 105: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>G->D at 105: in sporadic cancers; somatic mutation, MIM: 151623<li>G->R at 105: in sporadic cancers; somatic mutation, MIM: 151623<li>G->S at 105: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->V at 105: in sporadic cancers; somatic mutation, MIM: 151623<li>S->G at 106: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->R at 106: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>Y->C at 107: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->D at 107: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->H at 107: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->D at 108: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->S at 108: in sporadic cancers; somatic mutation, MIM: 151623<li>F->C at 109: in sporadic cancers; somatic mutation, MIM: 151623<li>F->L at 109: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->S at 109: in sporadic cancers; somatic mutation, MIM: 151623<li>R->C at 110: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 110: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->H at 110: in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 110: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs11540654, MIM: 151623<li>R->P at 110: in sporadic cancers; somatic mutation: in dbSNP rsrs11540654, MIM: 151623<li>R->S at 110: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->M at 111: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->P at 111: in sporadic cancers; somatic mutation, MIM: 151623<li>L->Q at 111: in sporadic cancers; somatic mutation, MIM: 151623<li>L->R at 111: in sporadic cancers; somatic mutation, MIM: 151623<li>G->D at 112: in sporadic cancers; somatic mutation, MIM: 151623<li>G->S at 112: in sporadic cancers; somatic mutation, MIM: 151623<li>F->C at 113: in sporadic cancers; somatic mutation, MIM: 151623<li>F->G at 113: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>F->I at 113: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->L at 113: in sporadic cancers; somatic mutation, MIM: 151623<li>F->S at 113: in sporadic cancers; somatic mutation, MIM: 151623<li>F->V at 113: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Y at 115: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 116: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 116: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->P at 116: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->E at 117: in sporadic cancers; somatic mutation, MIM: 151623<li>G->R at 117: in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 118: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->I at 118: in sporadic cancers; somatic mutation, MIM: 151623<li>T->R at 118: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->D at 119: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->T at 119: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->E at 120: in sporadic cancers; somatic mutation, MIM: 151623<li>K->M at 120: in sporadic cancers; somatic mutation, MIM: 151623<li>K->Q at 120: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->R at 120: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 121: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 122: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->I at 123: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->N at 123: in a sporadic cancer; somatic mutation, MIM: 151623<li>C->G at 124: in a sporadic cancer; somatic mutation, MIM: 151623<li>C->R at 124: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 124: in sporadic cancers; somatic mutation, MIM: 151623<li>C->W at 124: in a sporadic cancer; somatic mutation, MIM: 151623<li>C->Y at 124: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->A at 125: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->K at 125: in sporadic cancers; somatic mutation, MIM: 151623<li>T->M at 125: in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 125: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->R at 125: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->C at 126: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>Y->D at 126: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->F at 126: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->G at 126: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>Y->H at 126: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->N at 126: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->S at 126: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 127: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->F at 127: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 127: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 127: in sporadic cancers; somatic mutation, MIM: 151623<li>S->Y at 127: in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 128: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 128: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 128: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 128: in sporadic cancers; somatic mutation, MIM: 151623<li>A->D at 129: in sporadic cancers; somatic mutation, MIM: 151623<li>A->G at 129: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->T at 129: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 129: in sporadic cancers; somatic mutation, MIM: 151623<li>L->F at 130: in sporadic cancers; somatic mutation, MIM: 151623<li>L->H at 130: in sporadic cancers; somatic mutation, MIM: 151623<li>L->I at 130: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->P at 130: in sporadic cancers; somatic mutation, MIM: 151623<li>L->R at 130: in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 130: in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 131: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->H at 131: in sporadic cancers; somatic mutation, MIM: 151623<li>N->I at 131: in sporadic cancers; somatic mutation, MIM: 151623<li>N->K at 131: in sporadic cancers; somatic mutation, MIM: 151623<li>N->S at 131: in sporadic cancers; somatic mutation, MIM: 151623<li>N->T at 131: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->Y at 131: in sporadic cancers; somatic mutation, MIM: 151623<li>KM->NL at 132-133: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->E at 132: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>K->L at 132: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>K->M at 132: in sporadic cancers; somatic mutation, MIM: 151623<li>K->N at 132: in sporadic cancers; somatic mutation, MIM: 151623<li>K->Q at 132: in sporadic cancers; somatic mutation, MIM: 151623<li>K->R at 132: in sporadic cancers; somatic mutation, MIM: 151623<li>K->T at 132: in sporadic cancers; somatic mutation, MIM: 151623<li>K->W at 132: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>M->I at 133: in sporadic cancers; somatic mutation, MIM: 151623<li>M->K at 133: in sporadic cancers; somatic mutation, MIM: 151623<li>M->L at 133: in sporadic cancers; somatic mutation, MIM: 151623<li>M->R at 133: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>M->T at 133: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934873, MIM: 151623<li>M->V at 133: in sporadic cancers; somatic mutation, MIM: 151623<li>F->C at 134: in sporadic cancers; somatic mutation, MIM: 151623<li>F->I at 134: in sporadic cancers; somatic mutation, MIM: 151623<li>F->L at 134: in sporadic cancers; somatic mutation, MIM: 151623<li>F->S at 134: in sporadic cancers; somatic mutation, MIM: 151623<li>F->V at 134: in sporadic cancers; somatic mutation, MIM: 151623<li>C->F at 135: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 135: in sporadic cancers; somatic mutation, MIM: 151623<li>C->R at 135: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 135: in sporadic cancers; somatic mutation, MIM: 151623<li>C->T at 135: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>C->W at 135: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 135: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->E at 136: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->H at 136: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->K at 136: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->P at 136: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->R at 136: in sporadic cancers; somatic mutation, MIM: 151623<li>L->M at 137: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 137: in sporadic cancers; somatic mutation, MIM: 151623<li>L->Q at 137: in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 137: in sporadic cancers; somatic mutation, MIM: 151623<li>A->D at 138: in sporadic cancers; somatic mutation, MIM: 151623<li>A->P at 138: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934875, MIM: 151623<li>A->S at 138: in LFS; germline mutation, MIM: 151623<li>A->T at 138: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 138: in sporadic cancers; somatic mutation, MIM: 151623<li>K->E at 139: in sporadic cancers; somatic mutation, MIM: 151623<li>K->N at 139: in sporadic cancers; somatic mutation, MIM: 151623<li>K->Q at 139: in sporadic cancers; somatic mutation, MIM: 151623<li>K->R at 139: in sporadic cancers; somatic mutation, MIM: 151623<li>K->T at 139: in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 140: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 140: in sporadic cancers; somatic mutation, MIM: 151623<li>T->N at 140: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->P at 140: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->S at 140: in sporadic cancers; somatic mutation, MIM: 151623<li>C->A at 141: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>C->F at 141: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 141: in sporadic cancers; somatic mutation, MIM: 151623<li>C->R at 141: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 141: in sporadic cancers; somatic mutation, MIM: 151623<li>C->W at 141: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 141: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 142: in sporadic cancers; somatic mutation, MIM: 151623<li>P->F at 142: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->H at 142: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 142: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 142: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 142: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 142: in sporadic cancers; somatic mutation, MIM: 151623<li>V->A at 143: in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius, MIM: 151623<li>V->E at 143: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 143: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 143: in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 143: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->H at 144: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->K at 144: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->L at 144: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>Q->P at 144: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->R at 144: in sporadic cancers; somatic mutation, MIM: 151623<li>L->M at 145: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 145: in sporadic cancers; somatic mutation, MIM: 151623<li>L->Q at 145: in sporadic cancers; somatic mutation, MIM: 151623<li>L->R at 145: in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 145: in sporadic cancers; somatic mutation, MIM: 151623<li>W->C at 146: in a sporadic cancer; somatic mutation, MIM: 151623<li>W->G at 146: in sporadic cancers; somatic mutation, MIM: 151623<li>W->L at 146: in sporadic cancers; somatic mutation, MIM: 151623<li>W->R at 146: in sporadic cancers; somatic mutation, MIM: 151623<li>W->S at 146: in sporadic cancers; somatic mutation, MIM: 151623<li>V->A at 147: in sporadic cancers; somatic mutation, MIM: 151623<li>V->D at 147: in sporadic cancers; somatic mutation, MIM: 151623<li>V->E at 147: in sporadic cancers; somatic mutation, MIM: 151623<li>V->F at 147: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->G at 147: in sporadic cancers; somatic mutation, MIM: 151623<li>V->I at 147: in sporadic cancers; somatic mutation, MIM: 151623<li>D->A at 148: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->E at 148: in sporadic cancers; somatic mutation, MIM: 151623<li>D->G at 148: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->N at 148: in sporadic cancers; somatic mutation, MIM: 151623<li>D->V at 148: in sporadic cancers; somatic mutation, MIM: 151623<li>D->Y at 148: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 149: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 149: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 149: in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 150: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->I at 150: in sporadic cancers; somatic mutation, MIM: 151623<li>T->K at 150: in sporadic cancers; somatic mutation, MIM: 151623<li>T->N at 150: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->P at 150: in a sporadic cancer; somatic mutation: in dbSNP rsrs28934874, MIM: 151623<li>T->R at 150: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->A at 151: in sporadic cancers; somatic mutation, MIM: 151623<li>P->H at 151: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 151: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 151: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 151: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934874, MIM: 151623<li>P->T at 151: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934874, MIM: 151623<li>P->A at 152: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 152: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->Q at 152: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 152: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 152: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 152: in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 153: in sporadic cancers; somatic mutation, MIM: 151623<li>P->F at 153: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->H at 153: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 153: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 153: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 153: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 153: in sporadic cancers; somatic mutation, MIM: 151623<li>G->A at 154: in sporadic cancers; somatic mutation, MIM: 151623<li>G->C at 154: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->D at 154: in sporadic cancers; somatic mutation, MIM: 151623<li>G->I at 154: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->S at 154: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 154: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 155: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 155: in sporadic cancers; somatic mutation, MIM: 151623<li>T->M at 155: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->N at 155: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 155: in sporadic cancers; somatic mutation, MIM: 151623<li>T->S at 155: in sporadic cancers; somatic mutation, MIM: 151623<li>R->C at 156: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 156: in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 156: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 156: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 156: in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 156: in sporadic cancers; somatic mutation, MIM: 151623<li>V->A at 157: in sporadic cancers; somatic mutation, MIM: 151623<li>V->D at 157: in sporadic cancers; somatic mutation, MIM: 151623<li>V->F at 157: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 157: in sporadic cancers; somatic mutation, MIM: 151623<li>V->I at 157: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 157: in sporadic cancers; somatic mutation, MIM: 151623<li>R->C at 158: in sporadic cancers; somatic mutation, MIM: 151623<li>R->F at 158: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>R->G at 158: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 158: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 158: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 158: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 158: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->S at 158: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Y at 158: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>A->D at 159: in sporadic cancers; somatic mutation, MIM: 151623<li>A->F at 159: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>A->G at 159: in sporadic cancers; somatic mutation, MIM: 151623<li>A->P at 159: in sporadic cancers; somatic mutation, MIM: 151623<li>A->S at 159: in sporadic cancers; somatic mutation, MIM: 151623<li>A->T at 159: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 159: in sporadic cancers; somatic mutation, MIM: 151623<li>MA->IP at 160-161: in a sporadic cancer; somatic mutation, MIM: 151623<li>MA->IS at 160-161: in sporadic cancers; somatic mutation, MIM: 151623<li>MA->IT at 160-161: in a sporadic cancer; somatic mutation, MIM: 151623<li>M->I at 160: in sporadic cancers; somatic mutation, MIM: 151623<li>M->K at 160: in sporadic cancers; somatic mutation, MIM: 151623<li>M->T at 160: in a sporadic cancer; somatic mutation, MIM: 151623<li>M->V at 160: in sporadic cancers; somatic mutation, MIM: 151623<li>A->D at 161: in sporadic cancers; somatic mutation, MIM: 151623<li>A->F at 161: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>A->G at 161: in sporadic cancers; somatic mutation, MIM: 151623<li>A->P at 161: in sporadic cancers; somatic mutation, MIM: 151623<li>A->S at 161: in sporadic cancers; somatic mutation, MIM: 151623<li>A->T at 161: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 161: in sporadic cancers; somatic mutation, MIM: 151623<li>I->F at 162: in sporadic cancers; somatic mutation, MIM: 151623<li>I->M at 162: in sporadic cancers; somatic mutation, MIM: 151623<li>I->N at 162: in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>I->S at 162: in sporadic cancers; somatic mutation, MIM: 151623<li>I->T at 162: in sporadic cancers; somatic mutation, MIM: 151623<li>I->V at 162: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->C at 163: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>Y->D at 163: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->F at 163: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->H at 163: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->N at 163: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->S at 163: in sporadic cancers; somatic mutation, MIM: 151623<li>K->E at 164: in sporadic cancers; somatic mutation, MIM: 151623<li>K->M at 164: in sporadic cancers; somatic mutation, MIM: 151623<li>K->N at 164: in sporadic cancers; somatic mutation, MIM: 151623<li>K->Q at 164: in sporadic cancers; somatic mutation, MIM: 151623<li>K->R at 164: in sporadic cancers; somatic mutation, MIM: 151623<li>K->T at 164: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->E at 165: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->H at 165: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->L at 165: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->P at 165: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->R at 165: in sporadic cancers; somatic mutation, MIM: 151623<li>S->A at 166: in sporadic cancers; somatic mutation, MIM: 151623<li>S->G at 166: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->L at 166: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 166: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 166: in sporadic cancers; somatic mutation, MIM: 151623<li>QH->HD at 167-168: in a sporadic cancer; somatic mutation, MIM: 151623<li>QH->YL at 167-168: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->H at 167: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->K at 167: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->L at 167: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->R at 167: in sporadic cancers; somatic mutation, MIM: 151623<li>HM->LI at 168-169: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->D at 168: in sporadic cancers; somatic mutation, MIM: 151623<li>H->L at 168: in sporadic cancers; somatic mutation, MIM: 151623<li>H->N at 168: in sporadic cancers; somatic mutation, MIM: 151623<li>H->P at 168: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Q at 168: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 168: in sporadic cancers; somatic mutation, MIM: 151623<li>H->V at 168: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>H->Y at 168: in sporadic cancers; somatic mutation, MIM: 151623<li>MT->IS at 169-170: in a sporadic cancer; somatic mutation, MIM: 151623<li>M->I at 169: in sporadic cancers; somatic mutation, MIM: 151623<li>M->K at 169: in sporadic cancers; somatic mutation, MIM: 151623<li>M->T at 169: in sporadic cancers; somatic mutation, MIM: 151623<li>M->V at 169: in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 170: in sporadic cancers; somatic mutation, MIM: 151623<li>T->K at 170: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->M at 170: in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 170: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->S at 170: in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 171: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 171: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 171: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 171: in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 171: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->V at 171: in sporadic cancers; somatic mutation, MIM: 151623<li>V->A at 172: in sporadic cancers; somatic mutation, MIM: 151623<li>V->D at 172: in sporadic cancers; somatic mutation, MIM: 151623<li>V->F at 172: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 172: in sporadic cancers; somatic mutation, MIM: 151623<li>V->I at 172: in sporadic cancers; somatic mutation, MIM: 151623<li>V->A at 173: in sporadic cancers; somatic mutation, MIM: 151623<li>V->E at 173: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 173: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 173: in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 173: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>V->W at 173: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>R->G at 174: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>R->K at 174: in sporadic cancers; somatic mutation, MIM: 151623<li>R->M at 174: in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 174: in sporadic cancers; somatic mutation, MIM: 151623<li>R->T at 174: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->W at 174: in sporadic cancers; somatic mutation, MIM: 151623<li>R->C at 175: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 175: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 175: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934578, MIM: 151623<li>R->L at 175: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 175: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 175: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->S at 175: in sporadic cancers; somatic mutation, MIM: 151623<li>CP->FS at 176-177: in a sporadic cancer; somatic mutation, MIM: 151623<li>C->F at 176: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 176: in sporadic cancers; somatic mutation, MIM: 151623<li>C->R at 176: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 176: in sporadic cancers; somatic mutation, MIM: 151623<li>C->W at 176: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 176: in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 177: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->F at 177: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->H at 177: in sporadic cancers; somatic mutation, MIM: 151623<li>P->I at 177: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->L at 177: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 177: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 177: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 177: in a sporadic cancer; somatic mutation, MIM: 151623<li>HH->QS at 178-179: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->D at 178: in sporadic cancers; somatic mutation, MIM: 151623<li>H->HPHP at 178: in a Burkitt lymphoma, MIM: 151623<li>H->L at 178: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->N at 178: in sporadic cancers; somatic mutation, MIM: 151623<li>H->P at 178: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Q at 178: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 178: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Y at 178: in sporadic cancers; somatic mutation, MIM: 151623<li>H->D at 179: in sporadic cancers; somatic mutation, MIM: 151623<li>H->L at 179: in sporadic cancers; somatic mutation, MIM: 151623<li>H->N at 179: in sporadic cancers; somatic mutation, MIM: 151623<li>H->P at 179: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Q at 179: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 179: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Y at 179: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 180: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 180: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 180: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->K at 180: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 180: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 180: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->C at 181: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 181: in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 181: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 181: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 181: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 181: in sporadic cancers; somatic mutation, MIM: 151623<li>C->R at 182: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 182: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 182: in sporadic cancers; somatic mutation, MIM: 151623<li>S->L at 183: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 183: in sporadic cancers; somatic mutation, MIM: 151623<li>D->G at 184: in sporadic cancers; somatic mutation, MIM: 151623<li>D->H at 184: in sporadic cancers; somatic mutation, MIM: 151623<li>D->N at 184: in sporadic cancers; somatic mutation, MIM: 151623<li>D->V at 184: in sporadic cancers; somatic mutation, MIM: 151623<li>D->Y at 184: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 185: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->G at 185: in sporadic cancers; somatic mutation, MIM: 151623<li>S->I at 185: in sporadic cancers; somatic mutation, MIM: 151623<li>S->N at 185: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->R at 185: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 185: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->E at 186: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->G at 186: in sporadic cancers; somatic mutation, MIM: 151623<li>D->H at 186: in sporadic cancers; somatic mutation, MIM: 151623<li>D->N at 186: in sporadic cancers; somatic mutation, MIM: 151623<li>D->V at 186: in sporadic cancers; somatic mutation, MIM: 151623<li>D->Y at 186: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->C at 187: in sporadic cancers; somatic mutation, MIM: 151623<li>G->D at 187: in sporadic cancers; somatic mutation, MIM: 151623<li>G->N at 187: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->R at 187: in sporadic cancers; somatic mutation, MIM: 151623<li>G->S at 187: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 187: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 188: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->V at 188: in sporadic cancers; somatic mutation, MIM: 151623<li>A->D at 189: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->G at 189: in sporadic cancers; somatic mutation, MIM: 151623<li>A->P at 189: in sporadic cancers; somatic mutation, MIM: 151623<li>A->S at 189: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->T at 189: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 189: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 190: in sporadic cancers; somatic mutation, MIM: 151623<li>P->H at 190: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 190: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 190: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 190: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 190: in sporadic cancers; somatic mutation, MIM: 151623<li>P->H at 191: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 191: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 191: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 191: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 191: in sporadic cancers; somatic mutation, MIM: 151623<li>QH->HN at 192-193: in a sporadic cancer; somatic mutation, MIM: 151623<li>QH->HY at 192-193: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->H at 192: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->K at 192: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->L at 192: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->P at 192: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->R at 192: in sporadic cancers; somatic mutation, MIM: 151623<li>H->D at 193: in sporadic cancers; somatic mutation, MIM: 151623<li>H->L at 193: in sporadic cancers; somatic mutation, MIM: 151623<li>H->N at 193: in sporadic cancers; somatic mutation, MIM: 151623<li>H->P at 193: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Q at 193: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 193: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>H->Y at 193: in sporadic cancers; somatic mutation, MIM: 151623<li>L->F at 194: in sporadic cancers; somatic mutation, MIM: 151623<li>L->H at 194: in sporadic cancers; somatic mutation, MIM: 151623<li>L->I at 194: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 194: in sporadic cancers; somatic mutation, MIM: 151623<li>L->R at 194: in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 194: in sporadic cancers; somatic mutation, MIM: 151623<li>I->F at 195: in sporadic cancers; somatic mutation, MIM: 151623<li>I->L at 195: in a sporadic cancer; somatic mutation, MIM: 151623<li>I->N at 195: in sporadic cancers; somatic mutation, MIM: 151623<li>I->S at 195: in sporadic cancers; somatic mutation, MIM: 151623<li>I->T at 195: in sporadic cancers; somatic mutation, MIM: 151623<li>I->V at 195: in a sporadic cancer; somatic mutation, MIM: 151623<li>I->Y at 195: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>R->G at 196: in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 196: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 196: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 196: in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 196: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->E at 197: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 197: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 197: in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 197: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->D at 198: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->G at 198: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 198: in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 198: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 198: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->A at 199: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->E at 199: in sporadic cancers; somatic mutation, MIM: 151623<li>G->R at 199: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 199: in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 200: in sporadic cancers; somatic mutation, MIM: 151623<li>N->I at 200: in sporadic cancers; somatic mutation, MIM: 151623<li>N->K at 200: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->P at 200: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>N->S at 200: in sporadic cancers; somatic mutation, MIM: 151623<li>N->T at 200: in a sporadic cancer; somatic mutation, MIM: 151623<li>LR->FC at 201-202: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->F at 201: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 201: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->S at 201: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->C at 202: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 202: in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 202: in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 202: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 202: in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 202: in sporadic cancers; somatic mutation, MIM: 151623<li>VE->LV at 203-204: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->A at 203: in sporadic cancers; somatic mutation, MIM: 151623<li>V->E at 203: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 203: in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 203: in sporadic cancers; somatic mutation, MIM: 151623<li>V->W at 203: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>E->A at 204: in sporadic cancers; somatic mutation, MIM: 151623<li>E->D at 204: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 204: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 204: in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 204: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->V at 204: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->C at 205: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->D at 205: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->F at 205: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->H at 205: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->N at 205: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->S at 205: in sporadic cancers; somatic mutation, MIM: 151623<li>L->F at 206: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->M at 206: in a sporadic cancer; somatic mutation, MIM: 151623<li>DD->EY at 207-208: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->E at 207: in sporadic cancers; somatic mutation, MIM: 151623<li>D->G at 207: in sporadic cancers; somatic mutation, MIM: 151623<li>D->H at 207: in sporadic cancers; somatic mutation, MIM: 151623<li>D->N at 207: in sporadic cancers; somatic mutation, MIM: 151623<li>D->V at 207: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->Y at 207: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->E at 208: in sporadic cancers; somatic mutation, MIM: 151623<li>D->G at 208: in sporadic cancers; somatic mutation, MIM: 151623<li>D->H at 208: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->I at 208: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>D->N at 208: in sporadic cancers; somatic mutation, MIM: 151623<li>D->V at 208: in sporadic cancers; somatic mutation, MIM: 151623<li>D->Y at 208: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->I at 209: in sporadic cancers; somatic mutation, MIM: 151623<li>R->K at 209: in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 209: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->T at 209: in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 210: in sporadic cancers; somatic mutation, MIM: 151623<li>N->H at 210: in sporadic cancers; somatic mutation, MIM: 151623<li>N->I at 210: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->K at 210: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->S at 210: in sporadic cancers; somatic mutation, MIM: 151623<li>N->T at 210: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->Y at 210: in a familial cancer not matching LFS; germline mutation, MIM: 151623<li>T->A at 211: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 211: in sporadic cancers; somatic mutation, MIM: 151623<li>T->N at 211: in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 211: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->S at 211: in sporadic cancers; somatic mutation, MIM: 151623<li>F->I at 212: in sporadic cancers; somatic mutation, MIM: 151623<li>F->L at 212: in sporadic cancers; somatic mutation, MIM: 151623<li>F->S at 212: in sporadic cancers; somatic mutation, MIM: 151623<li>F->V at 212: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->Y at 212: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 213: in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 213: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 213: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 213: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->W at 213: in sporadic cancers; somatic mutation, MIM: 151623<li>H->D at 214: in sporadic cancers; somatic mutation, MIM: 151623<li>H->P at 214: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->Q at 214: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 214: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Y at 214: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 215: in sporadic cancers; somatic mutation, MIM: 151623<li>S->G at 215: in sporadic cancers; somatic mutation, MIM: 151623<li>S->I at 215: in sporadic cancers; somatic mutation, MIM: 151623<li>S->K at 215: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>S->N at 215: in sporadic cancers; somatic mutation, MIM: 151623<li>S->R at 215: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 215: in sporadic cancers; somatic mutation, MIM: 151623<li>V->A at 216: in sporadic cancers; somatic mutation, MIM: 151623<li>V->E at 216: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 216: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 216: in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 216: in sporadic cancers; somatic mutation: in dbSNP rsrs35163653, MIM: 151623<li>V->W at 216: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>V->A at 217: in sporadic cancers; somatic mutation, MIM: 151623<li>V->E at 217: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 217: in sporadic cancers; somatic mutation, MIM: 151623<li>V->I at 217: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->L at 217: in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 217: in dbSNP:rs35163653, MIM: 151623<li>V->A at 218: in sporadic cancers; somatic mutation, MIM: 151623<li>V->E at 218: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 218: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 218: in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 218: in sporadic cancers; somatic mutation, MIM: 151623<li>P->C at 219: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->H at 219: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 219: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 219: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 219: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 219: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->C at 220: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>Y->D at 220: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->F at 220: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->H at 220: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->N at 220: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->S at 220: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 221: in sporadic cancers; somatic mutation, MIM: 151623<li>E->D at 221: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 221: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 221: in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 221: in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 222: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 222: in sporadic cancers; somatic mutation, MIM: 151623<li>P->Q at 222: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 222: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 222: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 222: in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 223: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->H at 223: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 223: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 223: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 223: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->T at 223: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 224: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 224: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 224: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 224: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->A at 225: in sporadic cancers; somatic mutation, MIM: 151623<li>V->D at 225: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->F at 225: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 225: in a sporadic cancer; somatic mutation, MIM: 151623<li>V->I at 225: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 225: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->A at 226: in sporadic cancers; somatic mutation, MIM: 151623<li>G->D at 226: in sporadic cancers; somatic mutation, MIM: 151623<li>G->N at 226: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->S at 226: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 226: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 227: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 227: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 227: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->T at 227: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>D->A at 228: in sporadic cancers; somatic mutation, MIM: 151623<li>D->E at 228: in sporadic cancers; somatic mutation, MIM: 151623<li>D->G at 228: in sporadic cancers; somatic mutation, MIM: 151623<li>D->H at 228: in sporadic cancers; somatic mutation, MIM: 151623<li>D->N at 228: in sporadic cancers; somatic mutation, MIM: 151623<li>D->P at 228: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>D->V at 228: in sporadic cancers; somatic mutation, MIM: 151623<li>D->Y at 228: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 229: in a sporadic cancer; somatic mutation, MIM: 151623<li>C->N at 229: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>C->R at 229: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 229: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 229: in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 230: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 230: in sporadic cancers; somatic mutation, MIM: 151623<li>T->N at 230: in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 230: in sporadic cancers; somatic mutation, MIM: 151623<li>T->S at 230: in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 231: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 231: in sporadic cancers; somatic mutation, MIM: 151623<li>T->N at 231: in sporadic cancers; somatic mutation, MIM: 151623<li>T->S at 231: in sporadic cancers; somatic mutation, MIM: 151623<li>I->F at 232: in sporadic cancers; somatic mutation, MIM: 151623<li>I->L at 232: in sporadic cancers; somatic mutation, MIM: 151623<li>I->N at 232: in sporadic cancers; somatic mutation, MIM: 151623<li>I->S at 232: in sporadic cancers; somatic mutation, MIM: 151623<li>I->T at 232: in sporadic cancers; somatic mutation, MIM: 151623<li>I->V at 232: in sporadic cancers; somatic mutation, MIM: 151623<li>H->D at 233: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>H->L at 233: in sporadic cancers; somatic mutation, MIM: 151623<li>H->P at 233: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->Q at 233: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 233: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Y at 233: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->C at 234: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>Y->D at 234: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->F at 234: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->H at 234: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->K at 234: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>Y->N at 234: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->Q at 234: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>Y->S at 234: in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 235: in an adrenocortical carcinoma with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>N->H at 235: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->I at 235: in sporadic cancers; somatic mutation, MIM: 151623<li>N->M at 235: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>N->S at 235: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>N->T at 235: in sporadic cancers; somatic mutation, MIM: 151623<li>N->Y at 235: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->C at 236: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>Y->D at 236: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->F at 236: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->H at 236: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->N at 236: in sporadic cancers; somatic mutation, MIM: 151623<li>Y->S at 236: in sporadic cancers; somatic mutation, MIM: 151623<li>M->I at 237: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>M->K at 237: in sporadic cancers; somatic mutation, MIM: 151623<li>M->L at 237: in sporadic cancers; somatic mutation, MIM: 151623<li>M->R at 237: in sporadic cancers; somatic mutation, MIM: 151623<li>M->T at 237: in sporadic cancers; somatic mutation, MIM: 151623<li>M->V at 237: in sporadic cancers; somatic mutation, MIM: 151623<li>C->F at 238: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 238: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>C->H at 238: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>C->R at 238: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 238: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>C->W at 238: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 238: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 239: in sporadic cancers; somatic mutation, MIM: 151623<li>N->H at 239: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->I at 239: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->K at 239: in sporadic cancers; somatic mutation, MIM: 151623<li>N->S at 239: in sporadic cancers; somatic mutation, MIM: 151623<li>N->T at 239: in sporadic cancers; somatic mutation, MIM: 151623<li>N->Y at 239: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 240: in sporadic cancers; somatic mutation, MIM: 151623<li>S->G at 240: in sporadic cancers; somatic mutation, MIM: 151623<li>S->I at 240: in sporadic cancers; somatic mutation, MIM: 151623<li>S->N at 240: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 240: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->R at 240: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 240: in sporadic cancers; somatic mutation, MIM: 151623<li>S->A at 241: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 241: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 241: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934573, MIM: 151623<li>S->P at 241: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 241: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>S->Y at 241: in sporadic cancers; somatic mutation, MIM: 151623<li>C->F at 242: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 242: in sporadic cancers; somatic mutation, MIM: 151623<li>C->R at 242: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 242: in sporadic cancers; somatic mutation, MIM: 151623<li>C->W at 242: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 242: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>MG->IC at 243-244: in a sporadic cancer; somatic mutation, MIM: 151623<li>MG->IS at 243-244: in a sporadic cancer; somatic mutation, MIM: 151623<li>M->I at 243: in sporadic cancers; somatic mutation, MIM: 151623<li>M->K at 243: in sporadic cancers; somatic mutation, MIM: 151623<li>M->L at 243: in sporadic cancers; somatic mutation, MIM: 151623<li>M->R at 243: in sporadic cancers; somatic mutation, MIM: 151623<li>M->T at 243: in sporadic cancers; somatic mutation, MIM: 151623<li>M->V at 243: in sporadic cancers; somatic mutation, MIM: 151623<li>G->A at 244: in sporadic cancers; somatic mutation, MIM: 151623<li>G->C at 244: in sporadic cancers; somatic mutation, MIM: 151623<li>G->D at 244: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934572, MIM: 151623<li>G->E at 244: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->R at 244: in sporadic cancers; somatic mutation, MIM: 151623<li>G->S at 244: in sporadic cancers; somatic mutation: in dbSNP rsrs28934575, MIM: 151623<li>G->V at 244: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>G->A at 245: in sporadic cancers; somatic mutation, MIM: 151623<li>G->C at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>G->D at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>G->E at 245: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->F at 245: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->H at 245: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->L at 245: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->N at 245: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->R at 245: in sporadic cancers; somatic mutation, MIM: 151623<li>G->S at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934575, MIM: 151623<li>G->V at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>M->I at 246: in sporadic cancers; somatic mutation, MIM: 151623<li>M->K at 246: in sporadic cancers; somatic mutation, MIM: 151623<li>M->L at 246: in sporadic cancers; somatic mutation, MIM: 151623<li>M->R at 246: in sporadic cancers; somatic mutation, MIM: 151623<li>M->T at 246: in sporadic cancers; somatic mutation, MIM: 151623<li>M->V at 246: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>NR->IP at 247-248: in a sporadic cancer; somatic mutation, MIM: 151623<li>NR->KW at 247-248: in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 247: in sporadic cancers; somatic mutation, MIM: 151623<li>N->F at 247: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>N->I at 247: in sporadic cancers; somatic mutation, MIM: 151623<li>N->K at 247: in sporadic cancers; somatic mutation, MIM: 151623<li>N->S at 247: in sporadic cancers; somatic mutation, MIM: 151623<li>N->T at 247: in sporadic cancers; somatic mutation, MIM: 151623<li>N->Y at 247: in sporadic cancers; somatic mutation, MIM: 151623<li>R->C at 248: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->G at 248: in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 248: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 248: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 248: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs11540652, MIM: 151623<li>R->W at 248: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>RP->SA at 249-250: in a sporadic cancer; somatic mutation, MIM: 151623<li>RP->SS at 249-250: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 249: in sporadic cancers; somatic mutation, MIM: 151623<li>R->I at 249: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->K at 249: in sporadic cancers; somatic mutation, MIM: 151623<li>R->M at 249: in sporadic cancers; somatic mutation, MIM: 151623<li>R->N at 249: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>R->S at 249: in sporadic cancers; somatic mutation: in dbSNP rsrs28934571, MIM: 151623<li>R->T at 249: in sporadic cancers; somatic mutation, MIM: 151623<li>R->W at 249: in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 250: in sporadic cancers; somatic mutation, MIM: 151623<li>P->F at 250: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->H at 250: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 250: in sporadic cancers; somatic mutation, MIM: 151623<li>P->N at 250: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->Q at 250: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 250: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 250: in sporadic cancers; somatic mutation, MIM: 151623<li>I->F at 251: in sporadic cancers; somatic mutation, MIM: 151623<li>I->L at 251: in sporadic cancers; somatic mutation, MIM: 151623<li>I->M at 251: in LFS; germline mutation, MIM: 151623<li>I->N at 251: in sporadic cancers; somatic mutation, MIM: 151623<li>I->S at 251: in sporadic cancers; somatic mutation, MIM: 151623<li>I->T at 251: in sporadic cancers; somatic mutation, MIM: 151623<li>I->V at 251: in sporadic cancers; somatic mutation, MIM: 151623<li>L->F at 252: in sporadic cancers; somatic mutation, MIM: 151623<li>L->H at 252: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->I at 252: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 252: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 252: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->A at 253: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 253: in sporadic cancers; somatic mutation, MIM: 151623<li>T->N at 253: in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 253: in sporadic cancers; somatic mutation, MIM: 151623<li>T->S at 253: in sporadic cancers; somatic mutation, MIM: 151623<li>I->D at 254: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>I->F at 254: in a sporadic cancer; somatic mutation, MIM: 151623<li>I->L at 254: in a sporadic cancer; somatic mutation, MIM: 151623<li>I->M at 254: in a sporadic cancer; somatic mutation, MIM: 151623<li>I->N at 254: in sporadic cancers; somatic mutation, MIM: 151623<li>I->S at 254: in sporadic cancers; somatic mutation, MIM: 151623<li>I->T at 254: in sporadic cancers; somatic mutation, MIM: 151623<li>I->V at 254: in sporadic cancers; somatic mutation, MIM: 151623<li>I->F at 255: in sporadic cancers; somatic mutation, MIM: 151623<li>I->M at 255: in sporadic cancers; somatic mutation, MIM: 151623<li>I->N at 255: in sporadic cancers; somatic mutation, MIM: 151623<li>I->S at 255: in sporadic cancers; somatic mutation, MIM: 151623<li>I->T at 255: in sporadic cancers; somatic mutation, MIM: 151623<li>I->V at 255: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 256: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>T->K at 256: in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 256: in sporadic cancers; somatic mutation, MIM: 151623<li>T->S at 256: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 257: in sporadic cancers; somatic mutation, MIM: 151623<li>L->Q at 257: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934577, MIM: 151623<li>L->R at 257: in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 257: in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 258: in sporadic cancers; somatic mutation, MIM: 151623<li>E->D at 258: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 258: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 258: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->L at 258: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>E->Q at 258: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 258: in sporadic cancers; somatic mutation, MIM: 151623<li>D->A at 259: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->E at 259: in sporadic cancers; somatic mutation, MIM: 151623<li>D->G at 259: in sporadic cancers; somatic mutation, MIM: 151623<li>D->H at 259: in sporadic cancers; somatic mutation, MIM: 151623<li>D->N at 259: in sporadic cancers; somatic mutation, MIM: 151623<li>D->P at 259: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>D->S at 259: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>D->V at 259: in sporadic cancers; somatic mutation, MIM: 151623<li>D->Y at 259: in sporadic cancers; somatic mutation, MIM: 151623<li>S->A at 260: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 260: in sporadic cancers; somatic mutation, MIM: 151623<li>S->F at 260: in sporadic cancers; somatic mutation, MIM: 151623<li>S->P at 260: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 260: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->Y at 260: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 261: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->G at 261: in sporadic cancers; somatic mutation, MIM: 151623<li>S->I at 261: in sporadic cancers; somatic mutation, MIM: 151623<li>S->N at 261: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->R at 261: in sporadic cancers; somatic mutation, MIM: 151623<li>GN->PD at 262-263: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->C at 262: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->D at 262: in sporadic cancers; somatic mutation, MIM: 151623<li>G->H at 262: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>G->S at 262: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 262: in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 263: in sporadic cancers; somatic mutation, MIM: 151623<li>N->H at 263: in sporadic cancers; somatic mutation, MIM: 151623<li>N->I at 263: in sporadic cancers; somatic mutation, MIM: 151623<li>N->K at 263: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->S at 263: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->I at 264: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 264: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->Q at 264: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->R at 264: in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 264: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->M at 265: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 265: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>L->Q at 265: in sporadic cancers; somatic mutation, MIM: 151623<li>L->R at 265: in sporadic cancers; somatic mutation, MIM: 151623<li>G->A at 266: in sporadic cancers; somatic mutation, MIM: 151623<li>G->E at 266: in sporadic cancers; somatic mutation, MIM: 151623<li>G->R at 266: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 266: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 267: in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 267: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->P at 267: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 267: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->W at 267: in sporadic cancers; somatic mutation: in dbSNP rsrs55832599, MIM: 151623<li>N->F at 268: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>N->H at 268: in sporadic cancers; somatic mutation, MIM: 151623<li>N->I at 268: in sporadic cancers; somatic mutation, MIM: 151623<li>N->K at 268: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->S at 268: in sporadic cancers; somatic mutation, MIM: 151623<li>N->Y at 268: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->C at 269: in sporadic cancers; somatic mutation, MIM: 151623<li>S->G at 269: in sporadic cancers; somatic mutation, MIM: 151623<li>S->I at 269: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->N at 269: in sporadic cancers; somatic mutation, MIM: 151623<li>S->R at 269: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 269: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->C at 270: in sporadic cancers; somatic mutation, MIM: 151623<li>F->I at 270: in sporadic cancers; somatic mutation, MIM: 151623<li>F->L at 270: in sporadic cancers; somatic mutation, MIM: 151623<li>F->S at 270: in sporadic cancers; somatic mutation, MIM: 151623<li>F->V at 270: in sporadic cancers; somatic mutation, MIM: 151623<li>F->Y at 270: in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 271: in sporadic cancers; somatic mutation, MIM: 151623<li>E->D at 271: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 271: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 271: in sporadic cancers; somatic mutation, MIM: 151623<li>E->P at 271: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>E->Q at 271: in sporadic cancers; somatic mutation, MIM: 151623<li>E->R at 271: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>E->V at 271: in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>V->A at 272: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>V->E at 272: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 272: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 272: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>V->M at 272: in sporadic cancers; somatic mutation, MIM: 151623<li>R->C at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934576, MIM: 151623<li>R->L at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->N at 273: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>R->P at 273: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 273: in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 273: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->Y at 273: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>V->A at 274: in sporadic cancers; somatic mutation, MIM: 151623<li>V->D at 274: in sporadic cancers; somatic mutation, MIM: 151623<li>V->F at 274: in sporadic cancers; somatic mutation, MIM: 151623<li>V->G at 274: in sporadic cancers; somatic mutation, MIM: 151623<li>V->I at 274: in sporadic cancers; somatic mutation, MIM: 151623<li>V->L at 274: in sporadic cancers; somatic mutation, MIM: 151623<li>C->F at 275: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 275: in sporadic cancers; somatic mutation, MIM: 151623<li>C->R at 275: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 275: in sporadic cancers; somatic mutation, MIM: 151623<li>C->W at 275: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 275: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>A->D at 276: in sporadic cancers; somatic mutation, MIM: 151623<li>A->G at 276: in sporadic cancers; somatic mutation, MIM: 151623<li>A->P at 276: in sporadic cancers; somatic mutation, MIM: 151623<li>A->S at 276: in sporadic cancers; somatic mutation, MIM: 151623<li>A->T at 276: in sporadic cancers; somatic mutation, MIM: 151623<li>A->V at 276: in sporadic cancers; somatic mutation, MIM: 151623<li>C->F at 277: in sporadic cancers; somatic mutation, MIM: 151623<li>C->G at 277: in sporadic cancers; somatic mutation, MIM: 151623<li>C->R at 277: in sporadic cancers; somatic mutation, MIM: 151623<li>C->S at 277: in sporadic cancers; somatic mutation, MIM: 151623<li>C->W at 277: in sporadic cancers; somatic mutation, MIM: 151623<li>C->Y at 277: in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 278: in sporadic cancers; somatic mutation: in dbSNP rsrs17849781, MIM: 151623<li>P->F at 278: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>P->H at 278: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 278: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 278: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 278: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 278: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>G->E at 279: in sporadic cancers; somatic mutation, MIM: 151623<li>G->R at 279: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 279: in sporadic cancers; somatic mutation, MIM: 151623<li>G->W at 279: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 280: in sporadic cancers; somatic mutation, MIM: 151623<li>R->I at 280: in sporadic cancers; somatic mutation, MIM: 151623<li>R->K at 280: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 280: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->S at 280: in sporadic cancers; somatic mutation, MIM: 151623<li>R->T at 280: in sporadic cancers; somatic mutation, MIM: 151623<li>DR->EW at 281-282: in sporadic cancers; somatic mutation, MIM: 151623<li>D->A at 281: in sporadic cancers; somatic mutation, MIM: 151623<li>D->E at 281: in sporadic cancers; somatic mutation, MIM: 151623<li>D->G at 281: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>D->H at 281: in sporadic cancers; somatic mutation, MIM: 151623<li>D->N at 281: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>D->R at 281: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>D->V at 281: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>D->Y at 281: in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 282: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 282: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->L at 282: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 282: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 282: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->W at 282: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934574, MIM: 151623<li>R->C at 283: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->G at 283: in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 283: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 283: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 283: in sporadic cancers; somatic mutation, MIM: 151623<li>R->S at 283: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->A at 284: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 284: in sporadic cancers; somatic mutation, MIM: 151623<li>T->K at 284: in sporadic cancers; somatic mutation, MIM: 151623<li>T->P at 284: in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 285: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 285: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 285: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 285: in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 285: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 285: in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 286: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->D at 286: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 286: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 286: in sporadic cancers; somatic mutation, MIM: 151623<li>E->L at 286: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>E->Q at 286: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 286: in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 287: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 287: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 287: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 287: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 287: in sporadic cancers; somatic mutation, MIM: 151623<li>N->D at 288: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->K at 288: in sporadic cancers; somatic mutation, MIM: 151623<li>N->S at 288: in sporadic cancers; somatic mutation, MIM: 151623<li>N->T at 288: in sporadic cancers; somatic mutation, MIM: 151623<li>N->Y at 288: in sporadic cancers; somatic mutation, MIM: 151623<li>L->F at 289: in sporadic cancers; somatic mutation, MIM: 151623<li>L->H at 289: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 289: in sporadic cancers; somatic mutation, MIM: 151623<li>L->R at 289: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->V at 289: in sporadic cancers; somatic mutation, MIM: 151623<li>R->C at 290: in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 290: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs55819519, MIM: 151623<li>R->L at 290: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>K->E at 291: in sporadic cancers; somatic mutation, MIM: 151623<li>K->M at 291: in sporadic cancers; somatic mutation, MIM: 151623<li>K->N at 291: in sporadic cancers; somatic mutation, MIM: 151623<li>K->Q at 291: in sporadic cancers; somatic mutation, MIM: 151623<li>K->R at 291: in sporadic cancers; somatic mutation, MIM: 151623<li>K->T at 291: in sporadic cancers; somatic mutation, MIM: 151623<li>K->E at 292: in sporadic cancers; somatic mutation, MIM: 151623<li>K->G at 292: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>K->I at 292: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>K->N at 292: in sporadic cancers; somatic mutation, MIM: 151623<li>K->Q at 292: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->R at 292: in sporadic cancers; somatic mutation, MIM: 151623<li>K->T at 292: in sporadic cancers; somatic mutation, MIM: 151623<li>G->A at 293: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->R at 293: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 293: in sporadic cancers; somatic mutation, MIM: 151623<li>G->W at 293: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 294: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 294: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 294: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 294: in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 294: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 294: in sporadic cancers; somatic mutation, MIM: 151623<li>P->H at 295: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 295: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 295: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 295: in sporadic cancers; somatic mutation, MIM: 151623<li>H->C at 296: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>H->D at 296: in sporadic cancers; somatic mutation, MIM: 151623<li>H->L at 296: in sporadic cancers; somatic mutation, MIM: 151623<li>H->N at 296: in sporadic cancers; somatic mutation, MIM: 151623<li>H->P at 296: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->Q at 296: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 296: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->Y at 296: in sporadic cancers; somatic mutation, MIM: 151623<li>H->D at 297: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->N at 297: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->P at 297: in sporadic cancers; somatic mutation, MIM: 151623<li>H->R at 297: in sporadic cancers; somatic mutation, MIM: 151623<li>H->Y at 297: in sporadic cancers; somatic mutation, MIM: 151623<li>E->A at 298: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 298: in sporadic cancers; somatic mutation, MIM: 151623<li>E->K at 298: in sporadic cancers; somatic mutation, MIM: 151623<li>E->Q at 298: in sporadic cancers; somatic mutation, MIM: 151623<li>E->V at 298: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 299: in sporadic cancers; somatic mutation, MIM: 151623<li>L->Q at 299: in sporadic cancers; somatic mutation, MIM: 151623<li>L->R at 299: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->V at 299: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->A at 300: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 300: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 300: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 300: in sporadic cancers; somatic mutation, MIM: 151623<li>P->A at 301: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 301: in sporadic cancers; somatic mutation, MIM: 151623<li>P->Q at 301: in sporadic cancers; somatic mutation, MIM: 151623<li>P->S at 301: in sporadic cancers; somatic mutation, MIM: 151623<li>P->T at 301: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->A at 302: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->E at 302: in sporadic cancers; somatic mutation, MIM: 151623<li>G->R at 302: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->V at 302: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->C at 303: in sporadic cancers; somatic mutation, MIM: 151623<li>S->I at 303: in sporadic cancers; somatic mutation, MIM: 151623<li>S->N at 303: in sporadic cancers; somatic mutation, MIM: 151623<li>S->T at 303: in sporadic cancers; somatic mutation, MIM: 151623<li>T->A at 304: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 304: in sporadic cancers; somatic mutation, MIM: 151623<li>T->N at 304: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->S at 304: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->E at 305: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->M at 305: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>K->N at 305: in sporadic cancers; somatic mutation, MIM: 151623<li>K->R at 305: in sporadic cancers; somatic mutation, MIM: 151623<li>K->T at 305: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->P at 306: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>R->Q at 306: in sporadic cancers; somatic mutation, MIM: 151623<li>A->P at 307: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->S at 307: in sporadic cancers; somatic mutation, MIM: 151623<li>A->T at 307: in sporadic cancers; somatic mutation, MIM: 151623<li>L->M at 308: in sporadic cancers; somatic mutation, MIM: 151623<li>L->V at 308: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->R at 309: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->S at 309: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>N->I at 310: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->T at 310: in sporadic cancers; somatic mutation, MIM: 151623<li>N->H at 311: in sporadic cancers; somatic mutation, MIM: 151623<li>N->K at 311: in a sporadic cancer; somatic mutation, MIM: 151623<li>N->S at 311: in a sporadic cancer; somatic mutation: in dbSNP rsrs56184981, MIM: 151623<li>N->T at 311: in sporadic cancers; somatic mutation, MIM: 151623<li>T->I at 312: in sporadic cancers; somatic mutation, MIM: 151623<li>T->S at 312: in sporadic cancers; somatic mutation, MIM: 151623<li>S->C at 313: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->I at 313: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->N at 313: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->R at 313: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->F at 314: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->C at 315: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->F at 315: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->P at 315: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 316: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->T at 316: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->H at 317: in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->K at 317: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->L at 317: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->P at 317: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->R at 317: in sporadic cancers; somatic mutation, MIM: 151623<li>P->L at 318: in sporadic cancers; somatic mutation, MIM: 151623<li>K->E at 319: in sporadic cancers; somatic mutation, MIM: 151623<li>K->N at 319: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->R at 319: in a sporadic cancer; somatic mutation, MIM: 151623<li>K->N at 320: in sporadic cancers; somatic mutation, MIM: 151623<li>K->E at 321: in kidney cancer; germline mutation, MIM: 151623<li>K->R at 321: in a sporadic cancer; somatic mutation, MIM: 151623<li>P->L at 322: in sporadic cancers; somatic mutation, MIM: 151623<li>P->R at 322: in sporadic cancers; somatic mutation, MIM: 151623<li>L->G at 323: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>L->M at 323: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->P at 323: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->R at 323: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->V at 323: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->E at 324: in sporadic cancers; somatic mutation, MIM: 151623<li>D->S at 324: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623<li>D->Y at 324: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->A at 325: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->E at 325: in sporadic cancers; somatic mutation, MIM: 151623<li>G->V at 325: in LFS; germline mutation: in dbSNP rsrs28934271, MIM: 151623<li>E->G at 326: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->H at 327: in a sporadic cancer; somatic mutation, MIM: 151623<li>Y->S at 327: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->L at 328: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->S at 328: in sporadic cancers; somatic mutation, MIM: 151623<li>F->V at 328: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->I at 329: in a sporadic cancer; somatic mutation, MIM: 151623<li>T->S at 329: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->H at 330: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 330: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->R at 330: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->H at 331: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->P at 331: in sporadic cancers; somatic mutation, MIM: 151623<li>Q->R at 331: in sporadic cancers; somatic mutation, MIM: 151623<li>I->V at 332: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->V at 334: in sporadic cancers; somatic mutation, MIM: 151623<li>G->W at 334: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->G at 335: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->H at 335: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->L at 335: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->C at 337: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->H at 337: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 337: in sporadic cancers; somatic mutation, MIM: 151623<li>R->P at 337: in sporadic cancers; somatic mutation, MIM: 151623<li>F->I at 338: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->L at 338: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->K at 339: in a sporadic cancer; somatic mutation: in dbSNP rsrs17882252, MIM: 151623<li>E->Q at 339: in a sporadic cancer; somatic mutation, MIM: 151623<li>F->C at 341: in sporadic cancers; somatic mutation, MIM: 151623<li>R->L at 342: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->P at 342: in sporadic cancers; somatic mutation, MIM: 151623<li>R->Q at 342: in sporadic cancers; somatic mutation, MIM: 151623<li>E->G at 343: in sporadic cancers; somatic mutation, MIM: 151623<li>L->P at 344: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>L->R at 344: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->A at 346: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->G at 347: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->T at 347: in sporadic cancers; somatic mutation, MIM: 151623<li>L->F at 348: in a sporadic cancer; somatic mutation, MIM: 151623<li>L->S at 348: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 349: in a sporadic cancer; somatic mutation, MIM: 151623<li>D->H at 352: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->T at 353: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->E at 354: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->K at 354: in a sporadic cancer; somatic mutation, MIM: 151623<li>Q->R at 354: in sporadic cancers; somatic mutation, MIM: 151623<li>G->A at 356: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->W at 356: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->D at 358: in a sporadic cancer; somatic mutation, MIM: 151623<li>E->K at 358: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->A at 360: in dbSNP:rs35993958, MIM: 151623<li>G->V at 360: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->K at 363: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->P at 364: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->T at 364: in a sporadic cancer; somatic mutation, MIM: 151623<li>A->V at 364: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->R at 365: in a sporadic cancer; somatic mutation, MIM: 151623<li>H->Y at 365: in a familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623<li>S->A at 366: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs17881470, MIM: 151623<li>K->Q at 370: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->A at 376: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->T at 376: in a sporadic cancer; somatic mutation, MIM: 151623<li>R->H at 379: in sporadic cancers; somatic mutation, MIM: 151623<li>F->L at 385: in a sporadic cancer; somatic mutation, MIM: 151623<li>G->W at 389: in a sporadic cancer; somatic mutation, MIM: 151623<li>S->L at 392: in a sporadic cancer; somatic mutation, MIM: 151623</ul>			DNA binding	GO:0003677			P59082	Li-Fraumeni syndrome (LFS) [MIM:151623]	<li>rs17849781</li><li>rs35163653</li><li>rs1800371</li><li>rs28934271</li><li>rs28934572</li><li>rs28934571</li><li>rs56184981</li><li>rs28934574</li><li>rs28934573</li><li>rs55819519</li><li>rs1042522</li><li>rs17882252</li><li>rs55832599</li><li>rs28934577</li><li>rs28934873</li><li>rs28934578</li><li>rs28934875</li><li>rs28934575</li><li>rs28934576</li><li>rs28934874</li><li>rs17881470</li><li>rs35993958</li><li>rs11540654</li><li>rs11540652</li>	2
P04792	3315	<ul><li>R->W at 127: in HMN2B: in dbSNP rsrs29001571, MIM: 608634<li>S->F at 135: in CMT2F and HMN2B, MIM: 608634<li>R->W at 136: in CMT2F, MIM: 606595<li>T->I at 151: in HMN2B: in dbSNP rsrs28937568, MIM: 608634<li>P->L at 182: in HMN2B: in dbSNP rsrs28937569, MIM: 608634</ul>								<li>Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]</li><li>Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]</li>	<li>rs28937568</li><li>rs28937569</li><li>rs29001571</li>	2
P04798	1543	<ul><li>G->D at 45: in dbSNP:rs4646422<li>M->V at 66: in dbSNP:rs35035798<li>I->T at 78: in dbSNP:rs17861094<li>R->W at 93: in dbSNP:rs2229150<li>T->R at 173: in dbSNP:rs28399427<li>R->W at 279: in dbSNP:rs34260157<li>I->T at 286: in dbSNP:rs4987133<li>M->I at 331: in allele CYP1A1*6: in dbSNP rsrs56313657<li>I->N at 448: in allele CYP1A1*8<li>T->N at 461: in allele CYP1A1*4; dbSNP:rs1799814<li>I->V at 462: in allele CYP1A1*2B and allele CYP1A1*2C; dbSNP:rs1048943<li>R->C at 464: in allele CYP1A1*9<li>R->S at 464: in allele CYP1A1*5: in dbSNP rsrs41279188<li>F->V at 470: in dbSNP:rs36121583<li>R->W at 477: in allele CYP1A1*10: in dbSNP rsrs56240201<li>V->M at 482: in dbSNP rsrs28399429<li>P->R at 492: in allele CYP1A1*11: in dbSNP rsrs28399430</ul>							<li>P04798</li><li>P98181</li><li>Q92039</li><li>Q92095</li><li>Q9YH64</li><li>Q3LFU0</li><li>Q5KQT7</li><li>P56591</li><li>Q92110</li><li>P56590</li><li>O42457</li><li>O42430</li><li>Q00557</li><li>Q92116</li><li>Q92148</li><li>Q06367</li><li>Q92109</li><li>P33616</li><li>O42231</li><li>Q6JZS3</li><li>P79716</li><li>P05176</li><li>Q92100</li><li>P00185</li><li>Q9W683</li><li>Q6GUR1</li>		<li>rs56240201</li><li>rs1048943</li><li>rs4646422</li><li>rs36121583</li><li>rs28399427</li><li>rs4987133</li><li>rs28399429</li><li>rs2229150</li><li>rs34260157</li><li>rs41279188</li><li>rs1799814</li><li>rs28399430</li><li>rs17861094</li><li>rs56313657</li><li>rs35035798</li>	2
P04808	6013	<ul><li>K->M at 28: in dbSNP:rs618066</ul>									rs618066	2
P04839	1536	<ul><li>W->C at 18: in XCGD, MIM: 306400<li>G->R at 20: in XCGD, MIM: 306400<li>Y->D at 41: in XCGD, MIM: 306400<li>Missing  at 54-55: in XCGD, MIM: 306400<li>R->M at 54: in XCGD, MIM: 306400<li>R->S at 54: in XCGD, MIM: 306400<li>A->D at 55: in XCGD, MIM: 306400<li>A->E at 57: in XCGD, MIM: 306400<li>C->R at 59: in XCGD, MIM: 306400<li>C->W at 59: in XCGD, MIM: 306400<li>H->R at 101: in XCGD, MIM: 306400<li>H->Y at 101: in XCGD, MIM: 306400<li>H->R at 119: in XCGD, MIM: 306400<li>A->T at 156: in XCGD, MIM: 306400<li>G->R at 179: in XCGD, MIM: 306400<li>S->F at 193: in XCGD, MIM: 306400<li>F->I at 205: in XCGD, MIM: 306400<li>H->Q at 209: in XCGD, MIM: 306400<li>H->R at 209: in XCGD, MIM: 306400<li>H->Y at 209: in XCGD, MIM: 306400<li>Missing  at 215: in XCGD, MIM: 306400<li>H->N at 222: in XCGD, MIM: 306400<li>H->R at 222: in XCGD, MIM: 306400<li>H->Y at 222: in XCGD, MIM: 306400<li>G->L at 223: in XCGD; requires 2 nucleotide substitutions, MIM: 306400<li>A->G at 224: in XCGD, MIM: 306400<li>E->V at 225: in XCGD, MIM: 306400<li>C->R at 244: in XCGD, MIM: 306400<li>C->S at 244: in XCGD, MIM: 306400<li>C->Y at 244: in XCGD, MIM: 306400<li>Missing  at 298-302: in XCGD, MIM: 306400<li>H->N at 303: in XCGD; completely inhibits NADPH oxidase activity; NADPH oxidase assembly is abolished: in dbSNP rsrs28935182, MIM: 306400<li>P->R at 304: in XCGD; reduces NADPH oxidase activity to 4% of wild-type; translocation to the membrane of the phagosome is only attenuated, MIM: 306400<li>T->P at 307: in XCGD, MIM: 306400<li>E->K at 309: in XCGD, MIM: 306400<li>Missing  at 315: in XCGD, MIM: 306400<li>G->E at 322: in XCGD, MIM: 306400<li>I->F at 325: in XCGD, MIM: 306400<li>S->P at 333: in XCGD, MIM: 306400<li>H->Y at 338: in XCGD, MIM: 306400<li>P->H at 339: in XCGD, MIM: 306400<li>L->Q at 342: in XCGD, MIM: 306400<li>S->F at 344: in XCGD, MIM: 306400<li>R->P at 356: in XCGD, MIM: 306400<li>G->R at 364, MIM: 306400<li>G->A at 389: in XCGD, MIM: 306400<li>G->E at 389: in XCGD, MIM: 306400<li>M->R at 405: in XCGD, MIM: 306400<li>G->E at 408: in XCGD, MIM: 306400<li>G->R at 408: in XCGD, MIM: 306400<li>P->H at 415: in XCGD, MIM: 306400<li>P->L at 415: in XCGD, MIM: 306400<li>L->P at 420: in XCGD, MIM: 306400<li>S->P at 422: in XCGD, MIM: 306400<li>W->R at 453: in XCGD, MIM: 306400<li>G->S at 472: in dbSNP:rs13306300, MIM: 306400<li>D->G at 500: in XCGD: in dbSNP rsrs28935181, MIM: 306400<li>L->R at 505: in XCGD, MIM: 306400<li>W->C at 516: in XCGD, MIM: 306400<li>W->R at 516: in XCGD, MIM: 306400<li>D->E at 517, MIM: 306400<li>V->D at 534: in XCGD, MIM: 306400<li>C->R at 537: in XCGD, MIM: 306400<li>L->P at 546: in XCGD, MIM: 306400</ul>					<li>phagosome</li><li>membrane</li>	<li>GO:0045335</li><li>GO:0016020</li>		Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	<li>rs13306300</li><li>rs28935181</li><li>rs28935182</li>	2
P04844	6185	<ul><li>L->F at 597: in dbSNP:rs34951322</ul>									rs34951322	2
P04920	6522	<ul><li>G->E at 26: in dbSNP:rs2303929<li>E->V at 202: in dbSNP rsrs2229551<li>S->T at 208: in dbSNP:rs2229552<li>R->W at 311: in dbSNP:rs35016052<li>L->F at 1204: in dbSNP rsrs34918764</ul>									<li>rs34918764</li><li>rs35016052</li><li>rs2229552</li><li>rs2229551</li><li>rs2303929</li>	2
P04921	2995	<ul><li>N->S at 8: in Webb <li>L->F at 14: in Duch <li>A->S at 23: in Ahonen <li>K->E at 124: in dbSNP:rs28370000</ul>									rs28370000	2
P05000	3467	<ul><li>R->S at 95: in dbSNP:rs2230055</ul>									rs2230055	2
P05014	3441	<ul><li>H->P at 49: in dbSNP:rs3203573<li>A->T at 74: in alpha-4B; dbSNP:rs1062571<li>E->V at 137: in alpha-4B; dbSNP:rs3750480</ul>									<li>rs3203573</li><li>rs1062571</li>	2
P05019	3479	<ul><li>A->D at 187: in dbSNP:rs6213</ul>									rs6213	2
P05023	476	<ul><li>S->I at 47: in dbSNP:rs12564026</ul>									rs12564026	2
P05060	1114	<ul><li>S->T at 93: in dbSNP:rs6085324<li>K->N at 117: in dbSNP:rs236150<li>D->N at 145: in dbSNP:rs6133278<li>R->Q at 178: in dbSNP:rs910122<li>N->H at 200: in dbSNP:rs881118<li>R->Q at 232: in dbSNP:rs6139873<li>A->T at 243: in dbSNP:rs236151<li>A->G at 353: in dbSNP:rs236152<li>P->L at 413: in dbSNP:rs742710<li>R->H at 417: in dbSNP:rs742711</ul>									<li>rs236151</li><li>rs6133278</li><li>rs236150</li><li>rs236152</li><li>rs910122</li><li>rs742710</li><li>rs742711</li><li>rs6085324</li><li>rs6139873</li><li>rs881118</li>	2
P05062	229	<ul><li>I->T at 74: in HFI; affects proper folding, MIM: 229600<li>Missing  at 120-121: in HFI, MIM: 229600<li>R->S at 134: in dbSNP:rs10123355, MIM: 229600<li>C->R at 135: in HFI; America; partial activity, MIM: 229600<li>W->R at 148: in one subject with fructose intolerance; rare variant; America, MIM: 229600<li>A->P at 150: in HFI; frequent mutation; dbSNP:rs1800546, MIM: 229600<li>A->D at 175: in HFI; frequent mutation, MIM: 229600<li>P->R at 185: in HFI, MIM: 229600<li>E->Q at 207: in dbSNP:rs3739721, MIM: 229600<li>V->F at 222: in HFI; affects proper folding, MIM: 229600<li>L->P at 229: in HFI; affects proper folding, MIM: 229600<li>L->P at 257: in HFI; Italy, MIM: 229600<li>I->N at 268: in dbSNP:rs10989495, MIM: 229600<li>R->Q at 304: in HFI; 100-fold decrease in catalytic efficiency for substrates FBP and F1P, MIM: 229600<li>R->W at 304: in HFI; Turkey; 4800-fold decrease in catalytic efficiency for FBP and inactive with F1P, MIM: 229600<li>N->K at 335: in HFI; frequent mutation, MIM: 229600<li>A->V at 338: in HFI; Turkey and South Europe, MIM: 229600</ul>							<li>P09467</li><li>P14207</li><li>P15328</li><li>Q66FB5</li><li>P25851</li><li>Q96AE4</li><li>P0A0Y4</li><li>P09199</li><li>Q91WJ8</li><li>P0A0Y3</li><li>P09195</li><li>P00637</li><li>P00636</li><li>Q42796</li><li>Q07204</li><li>Q56928</li><li>P46275</li><li>P02702</li><li>Q7MYU0</li><li>P0A6X4</li><li>P0A1R0</li><li>P0A6X3</li><li>P0A1R1</li><li>Q8ZIW2</li><li>P0A6X6</li><li>P0A6X5</li><li>P17259</li>	Hereditary fructose intolerance (HFI) [MIM:229600]	<li>rs1800546</li><li>rs10989495</li><li>rs3739721</li><li>rs10123355</li>	2
P05067	351	<ul><li>E->K at 501: in dbSNP rsrs45588932<li>E->D at 665: in a patient with late onset Alzheimer disease<li>KM->NL at 670-671: in AD1<li>D->N at 678: in AD1, MIM: 104300<li>A->G at 692: in AD1; Flemish mutation; increases the solubility of processed beta-amyloid peptides and increases the stability of peptide oligomers, MIM: 104300<li>E->G at 693: in AD1, MIM: 104300<li>E->K at 693: in AMYLCAIT, MIM: 609065<li>E->Q at 693: in AMYLCAD, MIM: 609065<li>D->N at 694: in AMYLCAIW, MIM: 605714<li>L->V at 705: in AMYLCAIT, MIM: 609065<li>A->T at 713: in AD1, MIM: 104300<li>A->V at 713: in one chronic schizophrenia patient; could be a polymorphism; dbSNP:rs1800557, MIM: 104300<li>T->A at 714: in AD1, MIM: 104300<li>T->I at 714: in AD1; increased beta-APP42/beta-APP40 ratio, MIM: 104300<li>V->M at 715: in AD1; decreased beta-APP40/total APP-beta, MIM: 104300<li>I->V at 716: in AD1, MIM: 104300<li>V->F at 717: in AD1, MIM: 104300<li>V->G at 717: in AD1, MIM: 104300<li>V->I at 717: in AD1, MIM: 104300<li>V->L at 717: in AD1, MIM: 104300<li>L->P at 723: in AD1, MIM: 104300</ul>							<li>Q60495</li><li>P0A3Z4</li><li>P75313</li><li>P0A3Z2</li><li>O73683</li><li>Q28280</li><li>P0A3Z3</li><li>P08592</li><li>P79307</li><li>P0A3Z1</li><li>Q28757</li><li>P05067</li><li>P29216</li><li>Q28748</li><li>Q28053</li><li>Q5IS80</li><li>P47566</li><li>O93279</li><li>Q11207</li><li>P12023</li><li>P53601</li><li>Q95241</li><li>Q29149</li>	<li>Amyloidosis cerebroarterial Italian type (AMYLCAIT) [MIM:609065]</li><li>Alzheimer disease type 1 (AD1) [MIM:104300]</li><li>Amyloidosis cerebroarterial Dutch type (AMYLCAD) [MIM:609065]</li><li>Amyloidosis cerebroarterial Iowa type (AMYLCAIW) [MIM:605714]</li>	<li>rs45588932</li><li>rs1800557</li>	2
P05089	383	<ul><li>I->T at 11: in argininemia; 12% of wild-type activity: in dbSNP rsrs28941474, MIM: 207800<li>G->V at 138: in argininemia, MIM: 207800<li>G->R at 235: in argininemia, MIM: 207800<li>T->S at 290: could be a polymorphism, MIM: 207800</ul>								Argininemia [MIM:207800]	rs28941474	2
P05090	347	<ul><li>F->S at 15: in dbSNP:rs5952<li>S->L at 115: in dbSNP:rs5954<li>T->K at 178: in dbSNP:rs5955</ul>									<li>rs5954</li><li>rs5955</li><li>rs5952</li>	2
P05091	217	<ul><li>E->V at 337: in dbSNP:rs1062136<li>E->K at 496: in allele ALDH2*3<li>E->K at 504: in allele ALDH2*2; drastic reduction of enzyme activity; dbSNP:rs671</ul>							<li>P46367</li><li>P12762</li><li>P81178</li><li>Q25417</li><li>P20000</li><li>Q9SU63</li><li>P32872</li><li>P05091</li>		<li>rs671</li><li>rs1062136</li>	2
P05093	1586	<ul><li>C->W at 22: in dbSNP:rs762563<li>P->L at 35: in AH5; 38% 17alpha-hydroxylase activity and 33% 17,20-lyase activity, MIM: 202110<li>Missing  at 53: in AH5; 10% 17alpha-hydroxylase activity and 13% 17,20-lyase activity, MIM: 202110<li>Y->S at 64: in AH5, MIM: 202110<li>F->C at 93: in AH5, MIM: 202110<li>R->W at 96: in AH5; 25% of both 17alpha-hydroxylase and 17,20-lyase activities, MIM: 202110<li>S->P at 106: in AH5, MIM: 202110<li>I->II at 112: in AH5, MIM: 202110<li>F->V at 114: in AH5, MIM: 202110<li>D->V at 116: in AH5, MIM: 202110<li>N->D at 177: in AH5; 10% 17alpha-hydroxylase and 17,20-lyase activities, MIM: 202110<li>Y->D at 329: in AH5, MIM: 202110<li>Missing  at 330: in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities, MIM: 202110<li>P->T at 342: in AH5, MIM: 202110<li>R->C at 347: in AH5, MIM: 202110<li>R->H at 347: in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity, MIM: 202110<li>R->Q at 358: in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity, MIM: 202110<li>R->C at 362: in AH5, MIM: 202110<li>H->L at 373: in AH5, MIM: 202110<li>W->R at 406: in AH5, MIM: 202110<li>F->C at 417: in AH5; ablates both 17,20-lyase activity and 17alpha-hydroxylase activity; loss of heme-binding and loss of phosphorylation, MIM: 202110<li>P->L at 428: in AH5, MIM: 202110<li>R->H at 440: in AH5, MIM: 202110<li>Missing  at 487-489: in AH5, MIM: 202110<li>R->C at 496: in AH5, MIM: 202110<li>R->H at 496: in AH5; 30% 17alpha-hydroxylase activity and 29% 17,20-lyase activity, MIM: 202110</ul>	phosphorylation	GO:0016310	<li>lyase activity</li><li>heme-binding</li>	<li>GO:0016829</li><li>GO:0020037</li>				Adrenal hyperplasia type 5 (AH5) [MIM:202110]	rs762563	2
P05106	3690	<ul><li>L->P at 59: in alloantigen HPA-1B; dbSNP:rs5918<li>L->R at 66: in dbSNP:rs36080296<li>R->W at 119: in GT, MIM: 273800<li>Y->C at 141: in GT, MIM: 273800<li>L->W at 143: in GT, MIM: 273800<li>D->N at 145: in GT, MIM: 273800<li>D->Y at 145: in GT; type B, MIM: 273800<li>M->V at 150: in GT; may confer constitutive activity to the alpha-IIb/, MIM: 273800<li>T->I at 166: associated with neonatal thrombocytopenia; alloantigen Duv, MIM: 273800<li>R->Q at 169: in alloantigen HPA-4B; dbSNP:rs5917, MIM: 273800<li>S->L at 188: in GT; type II, MIM: 273800<li>L->P at 222: in GT; variant form, MIM: 273800<li>R->Q at 240: in GT; type B, MIM: 273800<li>R->W at 240: in GT; variant Strasbourg-1, MIM: 273800<li>R->Q at 242: in GT, MIM: 273800<li>D->V at 243: in GT, MIM: 273800<li>L->P at 288: in GT, MIM: 273800<li>H->P at 306: in GT; dbSNP:rs13306476, MIM: 273800<li>M->L at 321: in GT, MIM: 273800<li>I->N at 330: in GT; not expressed on the surface and absent inside the transfected cells, MIM: 273800<li>C->Y at 400: in GT, MIM: 273800<li>P->A at 433: in alloantigen MO, MIM: 273800<li>V->I at 453: in dbSNP:rs5921, MIM: 273800<li>R->Q at 515: in alloantigen CA: in dbSNP rsrs13306487, MIM: 273800<li>C->Y at 532: in GT, MIM: 273800<li>C->R at 568: in GT; type I, MIM: 273800<li>C->F at 586: in GT, MIM: 273800<li>C->R at 586: in GT; gain-of-function mutation; constitutively binds ligand-induced binding sites antibodies and the fibrinogen-mimetic antibody PAC-1, MIM: 273800<li>G->S at 598: in GT, MIM: 273800<li>C->R at 601: in GT, MIM: 273800<li>G->S at 605: in GT; type II, MIM: 273800<li>R->C at 662: in alloantigen SR, MIM: 273800<li>S->P at 778: in GT; variant Strasbourg-1, MIM: 273800</ul>			binding	GO:0005488			<li>P02854</li><li>O82030</li><li>Q9FEW2</li><li>P22775</li><li>P81070</li><li>Q9Y251</li><li>Q90YK5</li>	Glanzmann thrombasthenia (GT) [MIM:273800]	<li>rs13306487</li><li>rs36080296</li><li>rs13306476</li><li>rs5921</li><li>rs5917</li><li>rs5918</li>	2
P05107	3689	<ul><li>D->N at 128: in LAD1, MIM: 116920<li>S->P at 138: in LAD1, MIM: 116920<li>L->P at 149: in LAD1, MIM: 116920<li>G->R at 169: in LAD1, MIM: 116920<li>P->L at 178: in LAD1, MIM: 116920<li>K->T at 196: in LAD1, MIM: 116920<li>G->R at 273: in LAD1, MIM: 116920<li>G->S at 284: in LAD1, MIM: 116920<li>N->S at 351: in LAD1, MIM: 116920<li>Q->H at 354: in dbSNP:rs235330, MIM: 116920<li>R->W at 586: in LAD1; dbSNP:rs5030672, MIM: 116920<li>R->C at 593: in LAD1, MIM: 116920</ul>							O00515	Leukocyte adhesion deficiency type I (LAD1) [MIM:116920]	<li>rs235330</li><li>rs5030672</li>	2
P05108	1583	<ul><li>A->V at 189: in CAI; no loss of activity<li>D->DGD at 271: in CLAH; complete loss of activity<li>E->K at 314: in dbSNP:rs6161<li>R->W at 353: in CAI; loss of activity</ul>							<li>P00917</li><li>P48282</li><li>P00916</li><li>P35217</li><li>P00915</li><li>Q1LZA1</li><li>Q7M316</li><li>P07452</li><li>Q8HY33</li><li>Q7M317</li><li>P13634</li>		rs6161	2
P05111	3623	<ul><li>G->R at 227: in dbSNP:rs12720061<li>A->T at 257: either a rare polymorphism or may play a role in premature ovarian failure; dbSNP:rs12720062</ul>									<li>rs12720062</li><li>rs12720061</li>	2
P05112	3565	<ul><li>C->R at 27: in dbSNP:rs4986964</ul>									rs4986964	2
P05120	5055	<ul><li>N->D at 120: in dbSNP:rs6098<li>R->H at 229: in dbSNP:rs6100<li>G->A at 374: in dbSNP:rs34066931<li>N->K at 404: in dbSNP:rs6103<li>S->C at 413: in dbSNP:rs6104</ul>									<li>rs6104</li><li>rs6098</li><li>rs6103</li><li>rs34066931</li><li>rs6100</li>	2
P05121	5054	<ul><li>A->T at 15: in dbSNP:rs6092<li>V->I at 17: in dbSNP:rs6090<li>H->P at 25: in dbSNP:rs2227647<li>R->H at 209: in dbSNP:rs2227669<li>T->N at 255: in dbSNP:rs2227685</ul>									<li>rs2227647</li><li>rs6090</li><li>rs2227685</li><li>rs6092</li><li>rs2227669</li>	2
P05129	5582	<ul><li>H->Y at 101: in SCA14, MIM: 605361<li>S->P at 119: in SCA14, MIM: 605361<li>G->D at 128: in SCA14, MIM: 605361<li>R->C at 141, MIM: 605361<li>H->Q at 415, MIM: 605361<li>A->D at 523, MIM: 605361<li>R->S at 659, MIM: 605361</ul>								Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]		2
P05141	292	<ul><li>R->L at 111: in dbSNP:rs371749</ul>									rs371749	2
P05154		<ul><li>S->G at 44: in dbSNP:rs2069975<li>A->V at 55: in allele PCI*B; dbSNP:rs6118<li>N->S at 64: in dbSNP:rs6115<li>G->V at 94: in dbSNP:rs2069976<li>K->E at 105: in allele PCI*B; dbSNP:rs6119<li>L->P at 115: in dbSNP:rs2069999<li>P->A at 121: in dbSNP:rs6120<li>G->R at 217: in dbSNP:rs6114</ul>							<li>P05154</li><li>Q9N2I2</li><li>P70458</li>		<li>rs2069976</li><li>rs2069975</li><li>rs6115</li><li>rs6120</li><li>rs2069999</li><li>rs6114</li>	2
P05155	710	<ul><li>D->E at 39: in dbSNP:rs11229062<li>V->A at 56: in dbSNP:rs11546660<li>Missing  at 84-138: in HAE; type 2<li>C->Y at 130: in HAE; type 1, MIM: 106100<li>Missing  at 273: in HAE; type 2; TA; creates a new glycosylation site, MIM: 106100<li>T->S at 308: in dbSNP:rs1803212, MIM: 106100<li>G->R at 345: in HAE; type 1, MIM: 106100<li>T->P at 394: in HAE; type 1, MIM: 106100<li>D->V at 408: in HAE; type 1, MIM: 106100<li>G->R at 429: in HAE; type 2, MIM: 106100<li>V->E at 454: in HAE; type 2; WE, MIM: 106100<li>A->E at 456: in HAE; type 2; MA, MIM: 106100<li>A->T at 458: in HAE; type 2; MO, MIM: 106100<li>A->V at 458: in HAE; type 2, MIM: 106100<li>A->V at 465: in HAE; type 2, MIM: 106100<li>R->C at 466: in HAE; type 2; DA; dbSNP:rs28940870, MIM: 106100<li>R->H at 466: in HAE; type 2; AT, MIM: 106100<li>R->L at 466: in HAE; type 2, MIM: 106100<li>R->S at 466: in HAE; type 2: in dbSNP rsrs28940870, MIM: 106100<li>T->P at 467: in HAE; type 2, MIM: 106100<li>V->E at 473: in HAE; type 1, MIM: 106100<li>V->M at 473: in HAE; type 2, MIM: 106100<li>Q->E at 474, MIM: 106100<li>F->S at 477: in HAE; type 2, MIM: 106100<li>V->M at 480: in dbSNP:rs4926, MIM: 106100<li>L->P at 481: in HAE; type 2, MIM: 106100<li>L->R at 481: in HAE; type 2, MIM: 106100<li>P->R at 489: in HAE; type 2, MIM: 106100<li>G->E at 493: in HAE; type 1, MIM: 106100<li>P->R at 498: in HAE; type 1, MIM: 106100<li>P->S at 498: in HAE; type 2, MIM: 106100</ul>								Hereditary angioedema (HAE) [MIM:106100]	<li>rs1803212</li><li>rs28940870</li><li>rs11546660</li><li>rs4926</li><li>rs11229062</li>	2
P05156	3426	<ul><li>G->D at 243: in CFI deficiency, MIM: 217030<li>A->T at 300: in dbSNP:rs11098044, MIM: 217030<li>I->T at 340: predisposes to atypical HUS, MIM: 217030<li>H->L at 418: in CFI deficiency, MIM: 217030<li>D->V at 524: associated with atypical HUS, MIM: 217030</ul>							<li>P05156</li><li>P41088</li>	<li>Component I deficiency (CFI deficiency) [MIM:217030]</li><li>Complement factor I deficiency (CFI deficiency) [MIM:610984]</li>	rs11098044	2
P05160	2165	<ul><li>M->V at 49: in dbSNP:rs6002<li>R->H at 115: in dbSNP:rs6003<li>I->T at 342: in dbSNP:rs17514281<li>H->R at 350: in dbSNP:rs5999<li>E->V at 388: in dbSNP:rs5991<li>C->F at 450: in F13B deficiency<li>L->P at 529: in dbSNP:rs17549671<li>Y->S at 543: in dbSNP:rs6001<li>D->E at 569: in dbSNP:rs6000</ul>							P05160		<li>rs6000</li><li>rs5999</li><li>rs5991</li><li>rs6003</li><li>rs6001</li><li>rs6002</li><li>rs17549671</li><li>rs17514281</li>	2
P05161	9636	<ul><li>S->N at 83: in dbSNP:rs1921</ul>									rs1921	2
P05162	3957	<ul><li>V->I at 119: in dbSNP:rs2235339<li>E->Q at 132: in a breast cancer sample; somatic mutation</ul>									rs2235339	2
P05164	4353	<ul><li>V->F at 53: in dbSNP:rs7208693<li>Y->C at 173: in MPD; affects proteolytic processing and secretion, MIM: 254600<li>M->T at 251: in MPD: in dbSNP rsrs56378716, MIM: 254600<li>R->Q at 447: in a colorectal cancer sample; somatic mutation, MIM: 254600<li>R->W at 569: in MPD; suppress post-translational processing, MIM: 254600<li>R->C at 604: in dbSNP rsrs35670089, MIM: 254600<li>E->Q at 683: in dbSNP rsrs35702888, MIM: 254600<li>I->V at 717: in dbSNP:rs2759, MIM: 254600</ul>	secretion	GO:0046903					<li>P32377</li><li>P53602</li>	Myeloperoxidase deficiency (MPD) [MIM:254600]	<li>rs56378716</li><li>rs7208693</li><li>rs35670089</li><li>rs35702888</li><li>rs2759</li>	2
P05165		<ul><li>A->P at 50: in PA-1, MIM: 606054<li>R->W at 52: in PA-1, MIM: 606054<li>A->T at 113: in PA-1, MIM: 606054<li>I->T at 139: in PA-1, MIM: 606054<li>G->E at 172: in PA-1, MIM: 606054<li>M->K at 204: in PA-1, MIM: 606054<li>Q->R at 272: in PA-1, MIM: 606054<li>D->G at 343: in PA-1, MIM: 606054<li>M->K at 348: in PA-1; unstable protein, MIM: 606054<li>G->V at 354: in PA-1, MIM: 606054<li>C->R at 373: in PA-1, MIM: 606054<li>R->Q at 374: in PA-1, MIM: 606054<li>P->L at 398: in PA-1, MIM: 606054<li>I->V at 450, MIM: 606054<li>Missing  at 507: in PA-1, MIM: 606054<li>V->F at 526, MIM: 606054<li>W->L at 534: in PA-1, MIM: 606054<li>G->R at 606: in PA-1, MIM: 606054<li>G->R at 643: in PA-1, MIM: 606054<li>Missing  at 687: in PA-1, MIM: 606054</ul>								Propionic acidemia type I (PA-1) [MIM:606054]		2
P05166	5096	<ul><li>L->M at 17: in PA-2, MIM: 606054<li>R->P at 44: in PA-2, MIM: 606054<li>R->S at 67: in PA-2, MIM: 606054<li>S->R at 106: in PA-2, MIM: 606054<li>V->M at 107: in PA-2, MIM: 606054<li>G->D at 112: in PA-2, MIM: 606054<li>G->R at 131: in PA-2, MIM: 606054<li>K->KICK at 140: in PA-2, MIM: 606054<li>A->P at 153: in PA-2, MIM: 606054<li>R->Q at 165: in PA-2; does not affect either heteromeric or homomeric assembly, MIM: 606054<li>R->W at 165: in PA-2, MIM: 606054<li>E->K at 168: in PA-2; common mutation, MIM: 606054<li>G->R at 188: in PA-2, MIM: 606054<li>G->D at 198: in PA-2, MIM: 606054<li>V->D at 205: in PA-2, MIM: 606054<li>P->L at 228: in PA-2, MIM: 606054<li>G->V at 246: in PA-2, MIM: 606054<li>P->S at 287: in dbSNP:rs2228310, MIM: 606054<li>Missing  at 341: in PA-2, MIM: 606054<li>Missing  at 408: in PA-2, MIM: 606054<li>R->W at 410: in PA-2, MIM: 606054<li>T->I at 428: in PA-2; dbSNP:rs28934887, MIM: 606054<li>I->L at 430: in PA-2, MIM: 606054<li>Y->C at 435: in PA-2, MIM: 606054<li>Y->C at 439: in PA-2, MIM: 606054<li>M->T at 442: in PA-2, MIM: 606054<li>A->T at 468: in PA-2, MIM: 606054<li>A->V at 497: in PA-2; common mutation; does not affect either heteromeric or homomeric assembly, MIM: 606054<li>R->C at 512: in PA-2; affects heteromeric and homomeric assembly, MIM: 606054<li>L->P at 519: in PA-2; affects heteromeric and homomeric assembly, MIM: 606054<li>N->D at 536: in PA-2; affects heteromeric and homomeric assembly, MIM: 606054</ul>								Propionic acidemia type II (PA-2) [MIM:606054]	<li>rs28934887</li><li>rs2228310</li>	2
P05177	1544	<ul><li>S->C at 18: in dbSNP rsrs17861152<li>F->L at 21: in allele CYP1A2*2: in dbSNP rsrs56160784<li>P->R at 42: in allele CYP1A2*15<li>G->R at 73: in dbSNP rsrs45565238<li>T->M at 83: in allele CYP1A2*9<li>D->N at 104: in dbSNP rsrs34067076<li>L->F at 111: in dbSNP rsrs45442197<li>E->Q at 168: in allele CYP1A2*10<li>F->L at 186: in allele CYP1A2*11; drastic reduction in O-deethylation of phenacetin and 7-ethoxyresorufin; has a Vmax of approximately 5% of that of the wild-type and 5-fold lower Km value<li>F->V at 205: in dbSNP rsrs45540640<li>S->C at 212: in allele CYP1A2*12<li>R->W at 281: in dbSNP rsrs45468096<li>S->R at 298: in dbSNP rsrs17861157<li>G->S at 299: in allele CYP1A2*13: in dbSNP rsrs35796837<li>I->V at 314: in dbSNP rsrs28399418<li>D->N at 348: in allele CYP1A2*3; increases N-hydroxylation activity of heterocyclic amines; reduces phenacetin O-deethylation activity<li>R->Q at 377: in allele CYP1A2*16<li>I->F at 386: in allele CYP1A2*4; increases catalytic efficiency of N-hydroxylation towards some heterocyclic amines and reduces towards others; reduces catalytic efficiency of phenacetin O-deethylation due to a high decrease in the affinity for phenacetin<li>C->Y at 406: in allele CYP1A2*5; increases N-hydroxylation activity of heterocyclic amines; reduces catalytic efficiency of phenacetin O-deethylation: in dbSNP rsrs55889066<li>R->W at 431: in allele CYP1A2*6; not detected when expressed in heterologous system as it may be critical for maintenance of protein tertiary structure: in dbSNP rsrs28399424<li>T->I at 438: in allele CYP1A2*14: in dbSNP rsrs45486893<li>R->H at 456: in allele CYP1A2*8</ul>							<li>Q5RBQ1</li><li>P00187</li><li>O77809</li><li>Q3LFT9</li><li>Q4H4C3</li><li>Q64391</li><li>P05177</li><li>Q5KQT6</li><li>O77810</li><li>P56592</li><li>Q92110</li><li>Q01741</li><li>P24453</li>		<li>rs45540640</li><li>rs45565238</li><li>rs45442197</li><li>rs35796837</li><li>rs28399418</li><li>rs56160784</li><li>rs34067076</li><li>rs45468096</li><li>rs28399424</li><li>rs55889066</li><li>rs45486893</li><li>rs17861152</li><li>rs17861157</li>	2
P05181	1571	<ul><li>R->H at 76: in allele CYP2E1*2; reduced activity<li>V->I at 179: in allele CYP2E1*4; dbSNP:rs6413419<li>V->I at 389: in allele CYP2E1*3: in dbSNP rsrs55897648<li>H->L at 457: in dbSNP:rs28969387</ul>							<li>P51581</li><li>P33266</li><li>O18963</li><li>Q6GUQ4</li><li>P05181</li><li>P79383</li><li>P08682</li>		<li>rs28969387</li><li>rs55897648</li><li>rs6413419</li>	2
P05186	249	<ul><li>S->F at 17: in hypophosphatasia, MIM: 241500<li>Y->C at 28: in hypophosphatasia; infantile; 7% of activity, MIM: 241500<li>A->V at 33: in hypophosphatasia; 7.2% of wild-type activity, MIM: 241500<li>A->V at 40: in hypophosphatasia; 2% of activity, MIM: 241500<li>A->S at 51: in hypophosphatasia, MIM: 241500<li>A->V at 51: in hypophosphatasia, MIM: 241500<li>M->L at 62: in hypophosphatasia; moderate; 27% of activity, MIM: 241500<li>M->V at 62: in hypophosphatasia, MIM: 241500<li>G->R at 63: in hypophosphatasia, MIM: 241500<li>G->V at 63: in hypophosphatasia; loss of activity, MIM: 241500<li>T->M at 68: in hypophosphatasia; childhood-type; severe allele, MIM: 241500<li>R->C at 71: in hypophosphatasia, MIM: 241500<li>R->H at 71: in hypophosphatasia, MIM: 241500<li>R->P at 71: in hypophosphatasia, MIM: 241500<li>R->S at 71: in hypophosphatasia; childhood-type; severe allele, MIM: 241500<li>G->S at 75: in hypophosphatasia; severe; 3.5% of activity, MIM: 241500<li>Q->R at 76: in hypophosphatasia, MIM: 241500<li>P->L at 108: in hypophosphatasia; 0.4% of wild-type activity; severe allele: in dbSNP rsrs28933975, MIM: 241500<li>A->T at 111: in hypophosphatasia; odonto, MIM: 241500<li>A->G at 114: in hypophosphatasia, MIM: 241500<li>A->T at 116: in hypophosphatasia; loss of activity: in dbSNP rsrs28933974, MIM: 241500<li>G->R at 120: in hypophosphatasia, MIM: 241500<li>V->M at 128: in hypophosphatasia, MIM: 241500<li>G->R at 129: in hypophosphatasia, MIM: 241500<li>A->V at 132: in hypophosphatasia, MIM: 241500<li>T->H at 134: in hypophosphatasia; requires 2 nucleotide substitutions, MIM: 241500<li>T->N at 134: in hypophosphatasia; 9% of activity, MIM: 241500<li>R->H at 136: in hypophosphatasia; moderate; 33% of activity, MIM: 241500<li>T->I at 148: in hypophosphatasia, MIM: 241500<li>R->H at 152: in hypophosphatasia, MIM: 241500<li>G->S at 162: in hypophosphatasia, MIM: 241500<li>G->V at 162: in hypophosphatasia; severe; 1% of activity, MIM: 241500<li>N->D at 170: in hypophosphatasia, MIM: 241500<li>H->R at 171: in hypophosphatasia, MIM: 241500<li>H->Y at 171: in hypophosphatasia; severe; 2% of activity, MIM: 241500<li>A->T at 176: in hypophosphatasia, MIM: 241500<li>A->T at 177: in hypophosphatasia; adult type; moderate allele, MIM: 241500<li>A->T at 179: in hypophosphatasia, MIM: 241500<li>S->L at 181: in hypophosphatasia; 1% OF activity, MIM: 241500<li>R->W at 184: in hypophosphatasia; loss of activity, MIM: 241500<li>D->E at 189: in hypophosphatasia, MIM: 241500<li>E->G at 191: in hypophosphatasia; odonto, MIM: 241500<li>E->K at 191: in hypophosphatasia; moderate; frequent mutation in European countries, MIM: 241500<li>C->Y at 201: in hypophosphatasia, MIM: 241500<li>Q->P at 207: in hypophosphatasia, MIM: 241500<li>N->D at 211: in hypophosphatasia, MIM: 241500<li>I->F at 212: in hypophosphatasia, MIM: 241500<li>G->A at 220: in hypophosphatasia, MIM: 241500<li>G->V at 220: in hypophosphatasia; odonto, MIM: 241500<li>R->Q at 223: in hypophosphatasia, MIM: 241500<li>R->W at 223: in hypophosphatasia; 3% of activity; severe allele, MIM: 241500<li>K->E at 224: in hypophosphatasia; infantile; partial loss of activity, MIM: 241500<li>E->G at 235: in hypophosphatasia, MIM: 241500<li>R->S at 246: in hypophosphatasia; 4% of activity, MIM: 241500<li>G->V at 249: in hypophosphatasia; partial loss of activity, MIM: 241500<li>Y->H at 263: common polymorphism; dbSNP:rs3200254, MIM: 241500<li>R->H at 272: in hypophosphatasia; 6.8% of wild-type activity, MIM: 241500<li>R->L at 272: in hypophosphatasia, MIM: 241500<li>L->P at 275: in hypophosphatasia; childhood-type; severe allele, MIM: 241500<li>L->F at 289: in hypophosphatasia, MIM: 241500<li>E->K at 291: in hypophosphatasia; moderate; 8% of activity, MIM: 241500<li>P->T at 292: in hypophosphatasia; 4% of wild-type activity, MIM: 241500<li>Missing  at 293-294: in hypophosphatasia, MIM: 241500<li>D->A at 294: in hypophosphatasia, MIM: 241500<li>D->Y at 294: in hypophosphatasia, MIM: 241500<li>M->T at 295: in hypophosphatasia; 8.5% of wild-type activity, MIM: 241500<li>Y->D at 297: in hypophosphatasia; 1.3% of wild-type activity, MIM: 241500<li>E->K at 298: in hypophosphatasia, MIM: 241500<li>L->P at 299: in hypophosphatasia, MIM: 241500<li>D->V at 306: in hypophosphatasia, MIM: 241500<li>E->K at 311: in hypophosphatasia, MIM: 241500<li>G->R at 326: in hypophosphatasia; in a patient carrying also lys-291, MIM: 241500<li>F->G at 327: in hypophosphatasia; requires 2 nucleotide substitutions, MIM: 241500<li>F->L at 327: in hypophosphatasia; childhood, MIM: 241500<li>Missing  at 327: in hypophosphatasia, MIM: 241500<li>G->D at 334: in hypophosphatasia, MIM: 241500<li>G->R at 339: in hypophosphatasia, MIM: 241500<li>A->T at 348: in hypophosphatasia, MIM: 241500<li>E->D at 354: in hypophosphatasia, MIM: 241500<li>D->V at 378: in hypophosphatasia; loss of activity, MIM: 241500<li>H->R at 381: in hypophosphatasia, MIM: 241500<li>V->I at 382: in hypophosphatasia, MIM: 241500<li>R->C at 391: in hypophosphatasia; moderate; 10% of activity, MIM: 241500<li>R->H at 391: in hypophosphatasia; childhood-type; severe allele, MIM: 241500<li>A->S at 399: in hypophosphatasia, MIM: 241500<li>D->G at 406: in hypophosphatasia; 15% of activity, MIM: 241500<li>T->A at 411: in hypophosphatasia; absence of residual enzymatic activity, MIM: 241500<li>L->M at 414: in hypophosphatasia, MIM: 241500<li>N->S at 417: in hypophosphatasia, MIM: 241500<li>V->A at 423: in hypophosphatasia; 16% of activity, MIM: 241500<li>G->C at 426: in hypophosphatasia; infantile; partial loss of activity, MIM: 241500<li>G->D at 426: in hypophosphatasia, MIM: 241500<li>Y->H at 436: in hypophosphatasia, MIM: 241500<li>S->P at 445: in hypophosphatasia; severe; 2% of activity, MIM: 241500<li>R->C at 450: in hypophosphatasia; severe; 4% of activity, MIM: 241500<li>R->H at 450: in hypophosphatasia, MIM: 241500<li>E->K at 452: in hypophosphatasia, MIM: 241500<li>G->R at 456: in hypophosphatasia; loss of activity, MIM: 241500<li>V->M at 459: in hypophosphatasia; infantile, MIM: 241500<li>A->T at 468: in hypophosphatasia, MIM: 241500<li>G->S at 473: in hypophosphatasia, MIM: 241500<li>E->K at 476: in hypophosphatasia, MIM: 241500<li>N->I at 478: in hypophosphatasia; 9% of activity, MIM: 241500<li>C->S at 489: in hypophosphatasia; 9% of activity, MIM: 241500<li>I->F at 490: in hypophosphatasia; odonto; partial loss of activity, MIM: 241500<li>G->R at 491: in hypophosphatasia, MIM: 241500<li>V->A at 522: in dbSNP:rs34605986, MIM: 241500</ul>							<li>P23630</li><li>P13345</li><li>P05821</li><li>Q9T1X2</li><li>P13344</li><li>P10099</li><li>P15176</li><li>P51728</li><li>Q03709</li>	<li>Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]</li><li>Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]</li><li>Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]</li>	<li>rs34605986</li><li>rs3200254</li><li>rs28933975</li><li>rs28933974</li>	2
P05187	250	<ul><li>P->L at 25: in dbSNP:rs1130335<li>I->L at 89: in dbSNP:rs13026692<li>R->P at 231: in dbSNP:rs1048988<li>R->H at 263: in dbSNP:rs2853378<li>E->G at 451: in dbSNP:rs1048994</ul>									<li>rs13026692</li><li>rs1130335</li><li>rs1048994</li><li>rs2853378</li><li>rs1048988</li>	2
P05204	3151	<ul><li>E->K at 7: in variant H17</ul>										2
P05230	2246	<ul><li>G->E at 21: in dbSNP rsrs17223632</ul>									rs17223632	2
P05231	3569	<ul><li>P->S at 32: in dbSNP:rs2069830<li>D->E at 162: in dbSNP:rs13306435<li>D->V at 162: in dbSNP:rs2069860</ul>									<li>rs2069860</li><li>rs13306435</li><li>rs2069830</li>	2
P05305	1906	<ul><li>V->I at 186: in dbSNP:rs6413478<li>K->N at 198: in dbSNP:rs5370</ul>									<li>rs5370</li><li>rs6413478</li>	2
P05362	3383	<ul><li>S->C at 34: in dbSNP:rs5491<li>K->M at 56: in Kilifi; dbSNP:rs5491<li>K->N at 155: in dbSNP:rs5492<li>G->R at 241: in dbSNP:rs1799969<li>V->M at 315: in dbSNP:rs5495<li>P->L at 352: in dbSNP:rs1801714<li>R->Q at 397: in dbSNP:rs5497<li>K->E at 469: in dbSNP:rs5498<li>R->W at 478: in dbSNP:rs5030400</ul>									<li>rs5498</li><li>rs5497</li><li>rs5495</li><li>rs1799969</li><li>rs5492</li><li>rs5030400</li><li>rs5491</li><li>rs1801714</li>	2
P05412	3725	<ul><li>T->M at 297: in dbSNP:rs9989</ul>									rs9989	2
P05452	7123	<ul><li>A->S at 55<li>V->M at 58<li>S->G at 106: in dbSNP:rs13963</ul>									rs13963	2
P05455	6741	<ul><li>P->S at 48: in dbSNP:rs17160793</ul>									rs17160793	2
P05534		<ul><li>A->G at 5: in allele A*2401<li>H->Q at 27: in allele A*2408<li>E->G at 86: in allele A*2408<li>G->R at 89: in allele A*2408 and allele A*2429<li>L->V at 119: in allele A*2414<li>M->R at 121: in allele A*2414<li>F->Y at 123: in allele A*2414<li>G->W at 131: in allele A*2414<li>Q->L at 180: in allele A*2413<li>Q->W at 180: in allele A*2406; requires 2 nucleotide substitutions<li>T->R at 187: in allele A*2410<li>DG->EW at 190-191: in allele A*2403 and allele A*2410<li>T->A at 206: in allele A*2401</ul>										2
P05543	6906	<ul><li>S->T at 43: in TBG deficiency; San Diego; partial TBG deficiency, MIM: 314200<li>I->N at 116: in TBG deficiency; Gary; severe TBG deficiency: in dbSNP rsrs28933689, MIM: 314200<li>A->P at 133: in TBG deficiency; Montreal/TBG-M; partial TBG deficiency: in dbSNP rsrs28933688, MIM: 314200<li>D->N at 191: in TBG-S/Slow; dbSNP:rs1050086, MIM: 314200<li>A->T at 211: in TBG-A/Aborigine; dbSNP:rs2234036, MIM: 314200<li>L->P at 247: in TBG deficiency; CD5; complete TBG deficiency: in dbSNP rsrs28937312, MIM: 314200<li>L->F at 303: common polymorphism; dbSNP:rs1804495, MIM: 314200<li>H->Y at 351: in TBG deficiency; Quebec; partial TBG deficiency, MIM: 314200<li>P->L at 383: in TBG deficiency; Kumamoto, MIM: 314200</ul>							<li>P05543</li><li>P61640</li><li>P19238</li><li>P50450</li><li>P06127</li><li>Q9TT36</li><li>Q9TT35</li>	TBG deficiency [MIM:314200]	<li>rs28933689</li><li>rs28933688</li><li>rs1050086</li><li>rs1804495</li><li>rs28937312</li><li>rs2234036</li>	2
P05546	3053	<ul><li>A->T at 7: in dbSNP:rs5905<li>H->P at 60: in dbSNP:rs165867<li>S->N at 87: in dbSNP:rs34324685<li>L->V at 129: in dbSNP:rs11542069<li>R->H at 208: in HCF2D; Oslo; decreased affinity for dermatan sulfate; dbSNP:rs5907, MIM: 142360<li>K->R at 237: in dbSNP:rs1042435, MIM: 142360<li>T->M at 442: in dbSNP:rs5904, MIM: 142360<li>E->K at 447: in HCF2D, MIM: 142360<li>P->L at 462: in HCF2D; Tokushima; impaired secretion of the mutant molecules, MIM: 142360</ul>	secretion	GO:0046903						Heparin cofactor 2 deficiency (HCF2D) [MIM:142360]	<li>rs5907</li><li>rs34324685</li><li>rs5905</li><li>rs5904</li><li>rs1042435</li><li>rs11542069</li><li>rs165867</li>	2
P05549	7020	<ul><li>L->P at 249: in BOFS, MIM: 113620<li>R->G at 254: in BOFS, MIM: 113620<li>R->G at 255: in BOFS, MIM: 113620<li>G->E at 262: in BOFS, MIM: 113620</ul>								Branchiooculofacial syndrome (BOFS) [MIM:113620]		2
P05771	5579	<ul><li>V->M at 144: in a colorectal adenocarcinoma sample; somatic mutation<li>V->M at 496: in a glioblastoma multiforme sample; somatic mutation<li>P->H at 588: in dbSNP rsrs35631544</ul>									rs35631544	2
P05783	3875	<ul><li>T->A at 103: in cryptogenic cirrhosis: in dbSNP rsrs61136606, MIM: 215600<li>H->L at 128: in cryptogenic cirrhosis; interfers with the ability to form normal filaments: in dbSNP rsrs57758506, MIM: 215600<li>S->T at 230, MIM: 215600<li>R->Q at 261: in cryptogenic cirrhosis, MIM: 215600<li>G->R at 340: in cryptogenic cirrhosis, MIM: 215600</ul>								Cryptogenic cirrhosis [MIM:215600]	<li>rs61136606</li><li>rs57758506</li>	2
P05787	3856	<ul><li>G->V at 53: in cryptogenic cirrhosis: in dbSNP rsrs61710484, MIM: 215600<li>Y->C at 54: in cryptogenic cirrhosis, MIM: 215600<li>G->C at 62: in cryptogenic cirrhosis: in dbSNP rsrs11554495, MIM: 215600<li>I->V at 63: in dbSNP rsrs59536457, MIM: 215600<li>R->W at 401: in dbSNP:rs2277330, MIM: 215600</ul>								Cryptogenic cirrhosis [MIM:215600]	<li>rs2277330</li><li>rs11554495</li><li>rs59536457</li><li>rs61710484</li>	2
P05997	1290	<ul><li>P->S at 460: in dbSNP:rs35830636<li>R->P at 956: in dbSNP:rs6434313<li>G->R at 963: in EDS2, MIM: 130010</ul>								Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]	<li>rs35830636</li><li>rs6434313</li>	2
P06028	2994	<ul><li>T->S at 22: in M<li>T->M at 48: in S antigen and Mit antigen; dbSNP:rs7683365<li>R->H at 54: in Mit antigen<li>P->R at 58: in s<li>T->S at 84: in dbSNP:rs1132783</ul>							Q9U4L6		<li>rs7683365</li><li>rs1132783</li>	2
P06126	909	<ul><li>I->T at 30: in dbSNP:rs2269714<li>W->C at 68: in dbSNP:rs2269715</ul>									<li>rs2269715</li><li>rs2269714</li>	2
P06127	921	<ul><li>P->L at 224: in dbSNP:rs2241002<li>R->H at 461: in dbSNP:rs637186</ul>									<li>rs637186</li><li>rs2241002</li>	2
P06132	7389	<ul><li>G->E at 25: in FPCT; insoluble protein, MIM: 176100<li>F->L at 46: in HEP; mild phenotype; strong decrease of activity, MIM: 176100<li>P->L at 62: in HEP, MIM: 176100<li>A->G at 80: in HEP, MIM: 176100<li>A->S at 80: in FPCT; decrease of activity, MIM: 176100<li>V->Q at 134: in FPCT and HEP; requires 2 nucleotide substitutions; nearly normal activity, MIM: 176100<li>R->Q at 142: in FPCT, MIM: 176100<li>R->P at 144: in FPCT; decrease of activity, MIM: 176100<li>G->D at 156: in FPCT; decrease of activity, MIM: 176100<li>L->Q at 161: in FPCT, MIM: 176100<li>M->R at 165: in FPCT; activity < 2%, MIM: 176100<li>E->K at 167: in HEP and FPCT; nearly normal activity, MIM: 176100<li>R->P at 193: in FPCT; insoluble protein, MIM: 176100<li>L->F at 195: in FPCT, MIM: 176100<li>L->Q at 216: in FPCT, MIM: 176100<li>E->K at 218: in FPCT; significant decrease of activity, MIM: 176100<li>S->F at 219: in FPCT, MIM: 176100<li>H->P at 220: in HEP; mild form, MIM: 176100<li>F->L at 229: in FPCT, MIM: 176100<li>F->L at 232: in FPCT; decrease of activity, MIM: 176100<li>P->S at 235: in FPCT, MIM: 176100<li>L->Q at 253: in FPCT; decrease of activity: in dbSNP rsrs36033115, MIM: 176100<li>I->T at 260: in FPCT; decrease of activity, MIM: 176100<li>G->E at 281: in FPTC and HEP, MIM: 176100<li>G->V at 281: in FPCT, MIM: 176100<li>L->R at 282: in FPCT, MIM: 176100<li>R->G at 292: in HEP, MIM: 176100<li>G->S at 303: in FPCT, MIM: 176100<li>N->K at 304: in FPCT, MIM: 176100<li>Y->C at 311: in HEP, MIM: 176100<li>G->R at 318: in FPCT, MIM: 176100<li>M->T at 324: in FPCT, MIM: 176100<li>R->H at 332: in FPCT, MIM: 176100<li>I->T at 334: in FPCT, MIM: 176100</ul>							<li>Q9Y251</li><li>O15197</li>	<li>Hepatoerythropoietic porphyria (HEP) [MIM:176100]</li><li>Familial porphyria cutanea tarda (FPCT) [MIM:176100]</li>	rs36033115	2
P06133	7363	<ul><li>F->L at 109<li>F->L at 396<li>D->E at 458: in dbSNP:rs13119049</ul>									rs13119049	2
P06213	3643	<ul><li>N->K at 42: in Rabson-Mendenhall syndrome; impairs transport to the plasma membrane and reduces the affinity to bind insulin, MIM: 262190<li>V->A at 55: in leprechaunism; Verona-1, MIM: 246200<li>G->R at 58: in leprechaunism; Helmond; inhibits processing and transport: in dbSNP rsrs52836744, MIM: 246200<li>D->G at 86: in Ins resistance; type A, MIM: 125853<li>L->P at 89: in Ins resistance; type A, MIM: 125853<li>R->P at 113: in leprechaunism; Atlanta-1; abolishes insulin binding, MIM: 246200<li>A->V at 119: in leprechaunism; markedly impairs insulin binding, MIM: 246200<li>L->Q at 120: in leprechaunism; inhibits receptor processing, MIM: 246200<li>I->M at 146: in leprechaunism; mild, MIM: 246200<li>V->L at 167: in Ins resistance; type A, MIM: 125853<li>P->L at 220: in Ins resistance; severe, MIM: 125853<li>C->R at 228: in a gastric adenocarcinoma sample; somatic mutation, MIM: 125853<li>H->R at 236: in leprechaunism; Winnipeg; in one patient with in Rabson-Mendenhall syndrome heterozygous compound with Ser-386; may impair receptor processing, MIM: 246200<li>L->P at 260: in leprechaunism; Geldeimalsen, MIM: 246200<li>R->C at 279: in Ins resistance; severe; inhibits receptor internalization, MIM: 125853<li>R->H at 279: in IRAN type A; interferes with receptor processing, MIM: 610549<li>C->Y at 280: in Ins resistance; type A, MIM: 125853<li>C->Y at 301: in leprechaunism, MIM: 246200<li>Missing  at 308: in leprechaunism; abolishes insulin binding, MIM: 246200<li>S->L at 350: in Rabson-Mendenhall syndrome and leprechaunism, MIM: 262190<li>Missing  at 362: in leprechaunism, MIM: 262190<li>G->S at 386: in Rabson-Mendenhall syndrome; may impair receptor processing, MIM: 262190<li>G->R at 393: in leprechaunism; Verona-1, MIM: 246200<li>F->V at 409: in Ins resistance; severe, MIM: 125853<li>W->S at 439: in leprechaunism; impairs transport of the receptor to the cell surface, MIM: 246200<li>T->I at 448: in dbSNP:rs1051691, MIM: 246200<li>N->D at 458: in leprechaunism; partially inhibits receptor processing and autophosphorylation; strongly impairs ERK phosphorylation; induces wild-type levels of IRS-1 phosphorylation, MIM: 246200<li>K->E at 487: in leprechaunism; ARK-1: in dbSNP rsrs28933083, MIM: 246200<li>N->S at 489: in IRAN type A: in dbSNP rsrs28933085, MIM: 610549<li>K->Q at 492: in dbSNP rsrs1131851, MIM: 610549<li>Q->R at 695: in dbSNP rsrs55906835, MIM: 610549<li>R->S at 762: in IRAN type A, MIM: 610549<li>G->S at 811: in dbSNP rsrs35045353, MIM: 610549<li>T->A at 858: in NIDDM, MIM: 125853<li>I->T at 925: in leprechaunism; abolishes insulin binding, MIM: 246200<li>R->W at 926: in leprechaunism; markedly impairs insulin binding, MIM: 246200<li>T->M at 937: in leprechaunism; impaired receptor processing, MIM: 246200<li>P->T at 997: in Rabson-Mendenhall syndrome; reduces insulin binding, MIM: 262190<li>V->M at 1012: rare polymorphism; dbSNP:rs1799816, MIM: 262190<li>R->Q at 1020: in IRAN type A, MIM: 610549<li>I->F at 1023, MIM: 610549<li>G->V at 1035: in IRAN type A, MIM: 610549<li>A->V at 1055: in Ins resistance; type A, MIM: 125853<li>L->V at 1065: in dbSNP rsrs56395521, MIM: 125853<li>A->D at 1075: in Ins resistance; type A, MIM: 125853<li>K->E at 1095: in a NIDDM subject, MIM: 125853<li>R->W at 1119: in leprechaunism, MIM: 246200<li>I->T at 1143: in Rabson-Mendenhall syndrome; reduces insulin binding, MIM: 262190<li>R->Q at 1158: in Ins resistance, MIM: 125853<li>R->W at 1158: in Rabson-Mendenhall syndrome; abolishes insulin binding, MIM: 262190<li>A->T at 1161: in IRAN type A: in dbSNP rsrs28933084, MIM: 610549<li>A->E at 1162: in IRAN type A; impairs proteolytic processing, MIM: 610549<li>M->I at 1180: in Ins resistance, MIM: 125853<li>R->Q at 1191: in NIDDM, MIM: 125853<li>R->Q at 1201: in HHF5 and IRAN type A; interferes with kinase activation by insulin: in dbSNP rsrs28933086, MIM: 610549<li>R->W at 1201: in leprechaunism and Rabson-Mendenhall syndrome; reduces insulin binding possibly due to reduced receptor levels on the cell surface, MIM: 262190<li>P->L at 1205: in Ins resistance; type A; moderate, MIM: 125853<li>E->D at 1206: in Ins resistance; type A; accelerates degradation of the protein and impairs kinase activity, MIM: 125853<li>E->K at 1206: in leprechaunism, MIM: 246200<li>W->L at 1220: in Ins resistance; type A; accelerates degradation of the protein and impairs kinase activity: in dbSNP rsrs52800171, MIM: 125853<li>W->S at 1227: in IRAN type A, MIM: 610549<li>T->A at 1282: in dbSNP rsrs55875349, MIM: 610549<li>Y->C at 1361: in dbSNP:rs13306449, MIM: 610549<li>R->Q at 1378: in Ins resistance; type A: in dbSNP rsrs52826008, MIM: 125853</ul>	<li>phosphorylation</li><li>autophosphorylation</li><li>transport</li>	<li>GO:0016310</li><li>GO:0046777</li><li>GO:0006810</li>	<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>	<li>plasma membrane</li><li>cell surface</li>	<li>GO:0005886</li><li>GO:0009928,GO:0009986</li>	<li>P0C236</li><li>P07453</li><li>P35568</li><li>P42633</li><li>P35569</li><li>P68243</li><li>P35570</li><li>P68992</li><li>P81423</li><li>P68245</li><li>P69046</li><li>P01316</li><li>P01314</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P18109</li><li>P12704</li><li>P12708</li><li>P67974</li><li>P67973</li><li>P02855</li><li>P67971</li><li>Q28224</li><li>P01330</li><li>P69048</li><li>P69047</li><li>P18168</li><li>P01324</li><li>P01320</li><li>Q6P4Y6</li><li>P01328</li><li>P29323</li><li>Q9TQY7</li><li>P01340</li><li>P67969</li><li>P68990</li><li>P67968</li><li>P68991</li><li>P01336</li><li>P81881</li><li>P68988</li><li>P13190</li><li>P01334</li><li>P68987</li><li>P01331</li><li>P09477</li><li>P09476</li><li>P68989</li>	<li>Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968]</li><li>Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]</li><li>Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]</li><li>Leprechaunism [MIM:246200]</li><li>Insulin resistance (Ins resistance) [MIM:125853]</li><li>Rabson-Mendenhall syndrome [MIM:262190]</li>	<li>rs1131851</li><li>rs55906835</li><li>rs56395521</li><li>rs52826008</li><li>rs13306449</li><li>rs52836744</li><li>rs55875349</li><li>rs28933085</li><li>rs28933084</li><li>rs28933083</li><li>rs1799816</li><li>rs52800171</li><li>rs35045353</li><li>rs1051691</li><li>rs28933086</li>	2
P06239	3932	<ul><li>V->L at 28: in leukemia<li>G->S at 201: in dbSNP:rs11567841<li>P->PQKP at 232: in leukemia<li>A->V at 353: in leukemia<li>P->L at 447: in leukemia</ul>									rs11567841	2
P06241	2534	<ul><li>V->L at 243: in a lung squamous cell carcinoma sample; somatic mutation<li>G->R at 410: in a metastatic melanoma sample; somatic mutation<li>I->F at 445: in dbSNP:rs1801121<li>D->E at 506: in dbSNP rsrs28763975</ul>									<li>rs28763975</li><li>rs1801121</li>	2
P06276	590	<ul><li>Missing  at 32: in BChE deficiency<li>T->M at 52: in BChE deficiency: in dbSNP rsrs56309853, MIM: 177400<li>F->I at 56: in BChE deficiency, MIM: 177400<li>Y->C at 61: in BChE deficiency; enzymatically inactive in the plasma, MIM: 177400<li>P->S at 65: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400<li>D->G at 98: in BChE deficiency; BChE atypical form; dibucaine-resistant; dbSNP:rs1799807, MIM: 177400<li>D->H at 98: in BChE deficiency, MIM: 177400<li>N->Y at 124: in BChE deficiency, MIM: 177400<li>P->S at 128: in BChE deficiency; dbSNP:rs3732880, MIM: 177400<li>G->D at 143: in BChE deficiency, MIM: 177400<li>L->F at 153: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400<li>Y->C at 156: in BChE deficiency, MIM: 177400<li>V->M at 170: in BChE deficiency; allele H variant, MIM: 177400<li>D->E at 198: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400<li>S->G at 226: in BChE deficiency; enzymatically inactive in the plasma, MIM: 177400<li>A->V at 227: in BChE deficiency, MIM: 177400<li>A->T at 229: in BChE deficiency; enzymatically inactive in the plasma, MIM: 177400<li>T->M at 271: in BChE deficiency; allele fluoride-1; dbSNP:rs28933389, MIM: 177400<li>T->P at 278: in BChE deficiency, MIM: 177400<li>E->D at 283: in dbSNP:rs16849700, MIM: 177400<li>K->R at 295: in BChE deficiency, MIM: 177400<li>L->P at 335: in BChE deficiency; expressed at very low level, MIM: 177400<li>A->D at 356: in BChE deficiency, MIM: 177400<li>L->I at 358: in BChE deficiency; BChE variant form; fluoride-resistant; Japanese type, MIM: 177400<li>G->R at 393: in BChE deficiency, MIM: 177400<li>R->C at 414: in BChE deficiency, MIM: 177400<li>G->V at 418: in BChE deficiency; allele fluoride-2; dbSNP:rs28933390, MIM: 177400<li>F->S at 446: in BChE deficiency, MIM: 177400<li>E->K at 488: in BChE deficiency, MIM: 177400<li>W->R at 499: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400<li>F->L at 502: in BChE deficiency, MIM: 177400<li>E->V at 525: in BChE deficiency; allele J variant, MIM: 177400<li>R->C at 543: in BChE deficiency, MIM: 177400<li>Q->L at 546: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400<li>A->T at 567: in BChE deficiency; allele K variant; with reduced enzyme activity; dbSNP:rs1803274, MIM: 177400</ul>								Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	<li>rs56309853</li><li>rs28933390</li><li>rs16849700</li><li>rs28933389</li><li>rs1799807</li><li>rs1803274</li><li>rs3732880</li>	2
P06280	2717	<ul><li>A->P at 20: in FD; atypical, MIM: 301500<li>A->V at 31: in FD, MIM: 301500<li>L->P at 32: in FD, MIM: 301500<li>N->S at 34: in FD: in dbSNP rsrs28935192, MIM: 301500<li>G->R at 35: in FD, MIM: 301500<li>P->L at 40: in FD, MIM: 301500<li>P->S at 40: in FD, MIM: 301500<li>M->V at 42: in FD, MIM: 301500<li>LH->RS at 45-46: in FD, MIM: 301500<li>H->R at 46: in FD, MIM: 301500<li>H->Y at 46: in FD, MIM: 301500<li>W->G at 47: in FD, MIM: 301500<li>R->L at 49: in FD, MIM: 301500<li>R->P at 49: in FD, MIM: 301500<li>R->S at 49: in FD, MIM: 301500<li>C->R at 52: in FD, MIM: 301500<li>C->S at 52: in FD, MIM: 301500<li>C->F at 56: in FD, MIM: 301500<li>C->G at 56: in FD: in dbSNP rsrs28935193, MIM: 301500<li>C->Y at 56: in FD, MIM: 301500<li>E->K at 59: in FD, MIM: 301500<li>S->T at 65: in FD; does not affect enzyme function, MIM: 301500<li>E->Q at 66: in FD: in dbSNP rsrs28935191, MIM: 301500<li>M->V at 72: in FD; atypical, MIM: 301500<li>G->D at 85: in FD, MIM: 301500<li>Y->C at 86: in FD, MIM: 301500<li>L->P at 89: in FD, MIM: 301500<li>L->R at 89: in FD, MIM: 301500<li>I->T at 91: in FD; mild, MIM: 301500<li>D->H at 92: in FD, MIM: 301500<li>D->Y at 92: in FD, MIM: 301500<li>D->G at 93: in FD, MIM: 301500<li>C->S at 94: in FD, MIM: 301500<li>C->Y at 94: in FD, MIM: 301500<li>W->S at 95: in FD, MIM: 301500<li>A->V at 97: in FD, MIM: 301500<li>R->K at 100: in FD, MIM: 301500<li>R->T at 100: in FD, MIM: 301500<li>Missing  at 112-117: in FD, MIM: 301500<li>R->C at 112: in FD, MIM: 301500<li>R->H at 112: in FD; mild, MIM: 301500<li>F->L at 113: in FD; mild, MIM: 301500<li>F->S at 113: in FD, MIM: 301500<li>LA->PT at 120-121: in FD, MIM: 301500<li>G->E at 128: in FD, MIM: 301500<li>L->P at 131: in FD, MIM: 301500<li>Y->S at 134: in FD, MIM: 301500<li>G->R at 138: in FD, MIM: 301500<li>C->R at 142: in FD, MIM: 301500<li>C->Y at 142: in FD, MIM: 301500<li>A->P at 143: in FD, MIM: 301500<li>A->T at 143: in FD, MIM: 301500<li>G->V at 144: in FD, MIM: 301500<li>P->S at 146: in FD; mild: in dbSNP rsrs28935194, MIM: 301500<li>S->N at 148: in FD, MIM: 301500<li>S->R at 148: in FD, MIM: 301500<li>A->T at 156: in FD: in dbSNP rsrs28935195, MIM: 301500<li>A->V at 156: in FD, MIM: 301500<li>W->C at 162: in FD, MIM: 301500<li>W->R at 162: in FD: in dbSNP rsrs28935196, MIM: 301500<li>G->V at 163: in FD, MIM: 301500<li>D->V at 165: in FD, MIM: 301500<li>L->V at 166: in FD, MIM: 301500<li>D->V at 170: in FD, MIM: 301500<li>C->R at 172: in FD, MIM: 301500<li>C->Y at 172: in FD, MIM: 301500<li>G->D at 183: in FD, MIM: 301500<li>M->V at 187: in FD, MIM: 301500<li>C->W at 202: in FD: in dbSNP rsrs28936082, MIM: 301500<li>C->Y at 202: in FD, MIM: 301500<li>Missing  at 205-207: in FD, MIM: 301500<li>P->T at 205: in FD, MIM: 301500<li>N->S at 215: in FD; mild: in dbSNP rsrs28935197, MIM: 301500<li>Y->D at 216: in FD, MIM: 301500<li>I->N at 219: in FD, MIM: 301500<li>C->G at 223: in FD, MIM: 301500<li>N->D at 224: in FD, MIM: 301500<li>N->S at 224: in FD, MIM: 301500<li>W->R at 226: in FD, MIM: 301500<li>R->Q at 227: in FD: in dbSNP rsrs28935198, MIM: 301500<li>A->T at 230: in FD, MIM: 301500<li>D->N at 231: in FD, MIM: 301500<li>S->C at 235: in FD, MIM: 301500<li>W->C at 236: in FD, MIM: 301500<li>W->L at 236: in FD, MIM: 301500<li>I->N at 242: in FD, MIM: 301500<li>D->H at 244: in FD, MIM: 301500<li>D->N at 244: in FD, MIM: 301500<li>S->SWTS at 247: in FD, MIM: 301500<li>G->R at 258: in FD, MIM: 301500<li>P->L at 259: in FD, MIM: 301500<li>P->R at 259: in FD, MIM: 301500<li>G->A at 260: in FD, MIM: 301500<li>G->D at 261: in FD, MIM: 301500<li>N->S at 263: in FD, MIM: 301500<li>D->V at 264: in FD; dbSNP:rs28935486, MIM: 301500<li>P->R at 265: in FD, MIM: 301500<li>D->H at 266: in FD, MIM: 301500<li>D->N at 266: in FD, MIM: 301500<li>D->V at 266: in FD; dbSNP:rs28935487, MIM: 301500<li>M->I at 267: in FD, MIM: 301500<li>V->A at 269: in FD; dbSNP:rs28935488, MIM: 301500<li>N->K at 272: in FD, MIM: 301500<li>N->S at 272: in FD; dbSNP:rs28935495, MIM: 301500<li>Q->E at 279: in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells: in dbSNP rsrs28935485, MIM: 301500<li>Q->H at 279: in FD, MIM: 301500<li>Q->H at 280: in FD, MIM: 301500<li>M->T at 284: in FD, MIM: 301500<li>W->C at 287: in FD, MIM: 301500<li>W->G at 287: in FD, MIM: 301500<li>A->D at 288: in FD, MIM: 301500<li>I->F at 289: in FD, MIM: 301500<li>M->I at 296: in FD; atypical, MIM: 301500<li>M->V at 296: in FD; mild, MIM: 301500<li>S->F at 297: in FD; dbSNP:rs28935489, MIM: 301500<li>N->H at 298: in FD, MIM: 301500<li>N->K at 298: in FD, MIM: 301500<li>N->S at 298: in FD, MIM: 301500<li>R->Q at 301: in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells, MIM: 301500<li>D->Y at 313: in FD; dbSNP:rs28935490, MIM: 301500<li>Missing  at 316-322: in FD, MIM: 301500<li>V->E at 316: in FD, MIM: 301500<li>N->K at 320: in FD, MIM: 301500<li>N->Y at 320: in FD, MIM: 301500<li>Q->E at 321: in FD, MIM: 301500<li>Q->K at 327: in FD; dbSNP:rs28935491, MIM: 301500<li>G->A at 328: in FD: in dbSNP rsrs28935492, MIM: 301500<li>G->R at 328: in FD, MIM: 301500<li>W->R at 340: in FD, MIM: 301500<li>E->K at 341: in FD, MIM: 301500<li>R->Q at 342: in FD; severe; dbSNP:rs28935493, MIM: 301500<li>R->W at 356: in FD; severe, MIM: 301500<li>E->K at 358: in FD, MIM: 301500<li>Missing  at 358: in FD, MIM: 301500<li>G->R at 361: in FD; severe; dbSNP:rs28935494, MIM: 301500<li>R->H at 363: in FD, MIM: 301500<li>G->D at 373: in FD, MIM: 301500<li>G->S at 373: in FD, MIM: 301500<li>A->D at 377: in FD, MIM: 301500<li>C->Y at 378: in FD, MIM: 301500<li>Missing  at 383: in FD; severe; with facial telangiectasias, MIM: 301500<li>F->Y at 396: in RNA edited version, MIM: 301500<li>Missing  at 404: in FD; mild, MIM: 301500<li>P->A at 409: in FD, MIM: 301500<li>P->T at 409: in FD, MIM: 301500<li>T->A at 410: in FD; mild, MIM: 301500</ul>					ER	GO:0005783		Fabry disease (FD) [MIM:301500]	<li>rs28936082</li><li>rs28935489</li><li>rs28935485</li><li>rs28935488</li><li>rs28935487</li><li>rs28935486</li><li>rs28935491</li><li>rs28935196</li><li>rs28935492</li><li>rs28935197</li><li>rs28935493</li><li>rs28935194</li><li>rs28935494</li><li>rs28935195</li><li>rs28935495</li><li>rs28935198</li><li>rs28935192</li><li>rs28935193</li><li>rs28935490</li><li>rs28935191</li>	2
P06307	885	<ul><li>G->E at 32: in dbSNP:rs11571848<li>R->W at 95: in dbSNP:rs3774395</ul>									<li>rs3774395</li><li>rs11571848</li>	2
P06396	2934	<ul><li>S->L at 22: in a breast cancer sample; somatic mutation<li>A->T at 129: in dbSNP:rs2230287<li>T->I at 201: in a breast cancer sample; somatic mutation<li>D->N at 214: in AMYL5, MIM: 105120<li>D->Y at 214: in AMYL5, MIM: 105120<li>S->N at 611: in a breast cancer sample; somatic mutation, MIM: 105120<li>R->L at 668: in dbSNP:rs9696578, MIM: 105120</ul>								Amyloidosis type 5 (AMYL5) [MIM:105120]	<li>rs9696578</li><li>rs2230287</li>	2
P06400	5925	<ul><li>E->Q at 72: in RB, MIM: 180200<li>N->H at 133: in dbSNP:rs3092900, MIM: 180200<li>E->D at 137: in RB; unilateral form: in dbSNP rsrs3092902, MIM: 180200<li>I->T at 185: in RB, MIM: 180200<li>G->E at 310: in RB; could be a polymorphism, MIM: 180200<li>R->G at 358: in RB, MIM: 180200<li>R->Q at 358: in RB, MIM: 180200<li>Q->K at 436: in dbSNP:rs4151534, MIM: 180200<li>K->Q at 447: in RB, MIM: 180200<li>M->R at 457: in RB, MIM: 180200<li>Missing  at 480: in RB; mild form, MIM: 180200<li>R->G at 500: in RB, MIM: 180200<li>A->G at 525: in dbSNP:rs4151539, MIM: 180200<li>K->R at 530: in RB, MIM: 180200<li>H->Y at 549: in RB, MIM: 180200<li>S->L at 567: in RB, MIM: 180200<li>L->F at 569: in dbSNP:rs3092895, MIM: 180200<li>K->E at 616: in RB, MIM: 180200<li>A->P at 635: in RB, MIM: 180200<li>V->E at 654: in RB, MIM: 180200<li>L->P at 657: in RB, MIM: 180200<li>R->W at 661: in RB; mild form, MIM: 180200<li>L->P at 662: in RB, MIM: 180200<li>H->P at 673: in RB, MIM: 180200<li>Q->P at 685: in RB, MIM: 180200<li>D->E at 697: in dbSNP:rs3092903, MIM: 180200<li>C->Y at 706: in RB, MIM: 180200<li>C->R at 712: in RB, MIM: 180200<li>E->G at 746: in dbSNP:rs3092905, MIM: 180200<li>N->K at 803: in RB, MIM: 180200</ul>								Childhood cancer retinoblastoma (RB) [MIM:180200]	<li>rs3092905</li><li>rs3092903</li><li>rs3092902</li><li>rs4151539</li><li>rs3092895</li><li>rs3092900</li><li>rs4151534</li>	2
P06401	5241	<ul><li>A->T at 50: in dbSNP rsrs11571143<li>A->V at 120: in dbSNP rsrs11571144<li>P->L at 186: in dbSNP rsrs11571145<li>M->R at 301: in dbSNP rsrs11571146<li>S->T at 344: in dbSNP:rs3740753<li>C->S at 347: in dbSNP:rs11571147<li>A->S at 444: in dbSNP:rs11571150<li>V->L at 529: in dbSNP rsrs11571151<li>Q->P at 536: in dbSNP rsrs11571152<li>R->I at 625: in dbSNP:rs2020874<li>L->V at 651: in dbSNP:rs11571222<li>V->L at 660: in dbSNP:rs1042838<li>S->L at 865: in dbSNP:rs2020880</ul>									<li>rs3740753</li><li>rs11571222</li><li>rs11571151</li><li>rs1042838</li><li>rs11571150</li><li>rs11571143</li><li>rs11571144</li><li>rs2020880</li><li>rs11571145</li><li>rs11571146</li><li>rs11571147</li><li>rs11571152</li><li>rs2020874</li>	2
P06576	506	<ul><li>E->Q at 274: in dbSNP:rs1042001</ul>									rs1042001	2
P06681	717	<ul><li>C->Y at 131: in C2D; type II<li>S->F at 209: in C2D; type II: in dbSNP rsrs28934590<li>E->D at 318: in dbSNP:rs9332739<li>G->R at 464: in C2D; type II<li>F->L at 533: in dbSNP:rs1042664<li>R->C at 734: in dbSNP:rs4151648</ul>									<li>rs1042664</li><li>rs9332739</li><li>rs4151648</li><li>rs28934590</li>	2
P06702	6280	<ul><li>H->R at 20</ul>										2
P06703	6277	<ul><li>H->R at 27: in dbSNP:rs11974<li>N->S at 69: in dbSNP:rs1802581<li>I->T at 83: in dbSNP:rs1802582<li>G->D at 90: in dbSNP:rs2228293</ul>									<li>rs11974</li><li>rs1802581</li><li>rs1802582</li><li>rs2228293</li>	2
P06727		<ul><li>V->M at 13: in allele APOA-IV*1D<li>E->K at 44: in Budapest-2<li>G->S at 74: in dbSNP:rs5102<li>Q->H at 77<li>N->S at 147: in allele APOA-IV*1B; dbSNP:rs5104<li>A->S at 161: in Seattle-3<li>S->L at 178: in Seattle-1; may contribute to the development of familial combined hyperlipidemia<li>E->K at 185: in allele APOA-IV*3<li>K->E at 187: in allele APOA-IV*0A<li>E->K at 250: in allele APOA-IV*3A<li>R->Q at 264: in Seattle-2; may contribute to the development of familial combined hyperlipidemia<li>R->K at 279: in dbSNP:rs1042372<li>R->C at 305: in Budapest-1<li>V->L at 307: in dbSNP:rs5108<li>T->S at 367: in allele APOA-IV*1A and allele Budapest-1; dbSNP:rs675<li>Q->H at 380: in allele APOA-IV*2; dbSNP:rs5110<li>Q->QEQQQ at 381: in allele APOA-IV*0 and allele APOA-IV*5</ul>	development	GO:0007275							<li>rs1042372</li><li>rs5102</li><li>rs5108</li>	2
P06729	914	<ul><li>C->Y at 217: in a breast cancer sample; somatic mutation<li>H->Q at 266: in dbSNP:rs699738<li>H->N at 339: in dbSNP:rs35880225</ul>									<li>rs699738</li><li>rs35880225</li>	2
P06731	1048	<ul><li>A->D at 340: in dbSNP:rs10407503<li>E->K at 398: in dbSNP:rs7249230<li>R->S at 664: in dbSNP:rs10423171</ul>									<li>rs10407503</li><li>rs10423171</li><li>rs7249230</li>	2
P06732	1158	<ul><li>E->G at 83: in dbSNP:rs11559024<li>L->V at 127: in dbSNP:rs17875653<li>T->M at 166: in dbSNP:rs17357122<li>G->A at 243: in dbSNP:rs17875625</ul>									<li>rs17357122</li><li>rs17875625</li><li>rs17875653</li><li>rs11559024</li>	2
P06733	2023	<ul><li>N->K at 177: in dbSNP rsrs11544513<li>P->Q at 325: in dbSNP:rs11544514</ul>									<li>rs11544513</li><li>rs11544514</li>	2
P06734	2208	<ul><li>R->W at 62: in dbSNP:rs2228137<li>R->Q at 284: in dbSNP:rs8102872</ul>									<li>rs2228137</li><li>rs8102872</li>	2
P06737	5836	<ul><li>V->I at 222: in dbSNP:rs946616<li>V->E at 231: in dbSNP:rs1042195<li>N->S at 339: in GSD6, MIM: 232700<li>N->K at 377: in GSD6, MIM: 232700<li>R->P at 425: in dbSNP:rs2228499, MIM: 232700<li>V->G at 698: in dbSNP:rs35831273, MIM: 232700<li>R->S at 715: in dbSNP:rs1042210, MIM: 232700<li>I->L at 806: in dbSNP:rs34313873, MIM: 232700</ul>								Glycogen storage disease type 6 (GSD6) [MIM:232700]	<li>rs1042210</li><li>rs946616</li><li>rs1042195</li><li>rs2228499</li><li>rs34313873</li><li>rs35831273</li>	2
P06744	2821	<ul><li>T->I at 5: in HA; GPI Matsumoto, MIM: 172400<li>H->P at 20: in HA; severe form with neurological deficits; GPI Homburg, MIM: 172400<li>R->G at 75: in HA; GPI Elyria, MIM: 172400<li>R->W at 83: in HA, MIM: 172400<li>V->M at 101: in HA; GPI Sarcina, MIM: 172400<li>G->S at 159: in HA, MIM: 172400<li>T->I at 195: in HA; GPI Bari and Mola, MIM: 172400<li>I->T at 208: in dbSNP:rs8191371, MIM: 172400<li>T->M at 224: in HA; GPI Iwate, MIM: 172400<li>R->H at 273: in HA, MIM: 172400<li>S->L at 278: in HA; dbSNP:rs34306618, MIM: 172400<li>A->P at 300: in HA, MIM: 172400<li>R->H at 308: in dbSNP:rs2230294, MIM: 172400<li>L->P at 339: in HA; severe form with neurological deficits; GPI Homburg, MIM: 172400<li>Q->R at 343: in HA; GPI Narita and Morcone, MIM: 172400<li>R->C at 347: in HA; GPI Mount Scopus, MIM: 172400<li>R->H at 347: in HA, MIM: 172400<li>T->R at 375: in HA; GPI Kinki, MIM: 172400<li>H->R at 389: in HA; severe form; GPI Calden, MIM: 172400<li>R->H at 472: in HA, MIM: 172400<li>L->F at 487: in HA, MIM: 172400<li>E->K at 495: in HA, MIM: 172400<li>L->V at 517: in HA; severe form; GPI Calden, MIM: 172400<li>I->T at 525: in HA, MIM: 172400<li>D->N at 539: in HA; GPI Fukuoka and Kinki, MIM: 172400</ul>							<li>P78033</li><li>Q2YWS3</li><li>Q31AX5</li><li>Q5HQJ9</li><li>Q8FR39</li><li>Q8EZG6</li><li>Q3KLX6</li><li>Q39FF4</li><li>Q97FP8</li><li>Q3M6S3</li><li>Q8NS31</li><li>O51672</li><li>O82059</li><li>Q5M1N9</li><li>Q89A35</li><li>P50309</li><li>Q74K31</li><li>Q8SRY1</li><li>Q49WA1</li><li>Q3JCN1</li><li>Q5E847</li><li>Q48VF9</li><li>Q2FIB3</li><li>Q9HV67</li><li>Q31I19</li><li>Q928R6</li><li>P64193</li><li>Q5XE09</li><li>P64192</li><li>Q8R924</li><li>Q6NIE5</li><li>P64195</li><li>Q1BH79</li><li>O25781</li><li>P64194</li><li>Q2JH03</li><li>Q0VR14</li><li>Q8DCK7</li><li>P0A6T1</li><li>P0A6T2</li><li>Q13Z07</li><li>Q47IJ3</li><li>Q491V0</li><li>Q2JX86</li><li>Q9ZK49</li><li>Q8EVU1</li><li>Q7MUV9</li><li>Q5HHC2</li><li>Q3BUL3</li><li>Q28QX4</li><li>Q8NXF1</li><li>Q8ENY8</li><li>Q6F1L2</li><li>Q2YPF3</li><li>Q1GTU1</li><li>Q1LU73</li><li>P64196</li><li>Q62JL8</li><li>Q5YPP1</li><li>Q92SC4</li><li>Q2IE39</li><li>Q4QL07</li><li>Q7VRI4</li><li>Q65FL6</li><li>Q2P380</li><li>Q7WP01</li><li>Q9N1E2</li><li>Q39SU1</li><li>Q3AJU7</li><li>Q2G7C4</li><li>Q5PL07</li><li>Q835G1</li><li>P47357</li><li>Q72GY6</li><li>Q6GIC6</li><li>Q5WDX0</li><li>Q96YC2</li><li>Q4L4X8</li><li>Q8K8Q6</li><li>P0A0T1</li><li>Q4A9F3</li><li>P0A0T0</li><li>P13377</li><li>Q8EBH1</li><li>P52983</li><li>Q9CNL2</li><li>Q255I6</li><li>P52031</li><li>P52030</li><li>P57636</li><li>Q8L1Z9</li><li>Q1R3R3</li><li>Q9UXW3</li><li>Q3B3Q8</li><li>P42861</li><li>Q57F73</li><li>Q8G2N3</li><li>Q9K7L8</li><li>Q8K910</li><li>Q8DN74</li><li>Q1JIS1</li><li>O59618</li><li>Q57H06</li><li>P52029</li><li>Q2JHU0</li><li>Q3YUW0</li><li>Q8Z1U7</li><li>Q8UI94</li><li>Q2YBU4</li><li>Q2SWP6</li><li>Q7NJY9</li><li>Q1LM68</li><li>Q7S986</li><li>Q5WYE0</li><li>Q3AFH3</li><li>Q6G0T9</li><li>Q4JCA7</li><li>Q1CSA0</li><li>Q8DKY2</li><li>Q72YI4</li><li>Q2S8W1</li><li>Q9RMC1</li><li>Q9X670</li><li>Q9KUY4</li><li>Q3K2Y2</li><li>Q81K75</li><li>Q5UXU0</li><li>Q24VW9</li><li>P29333</li><li>Q6YQU0</li><li>P44312</li><li>Q9CD75</li><li>O84382</li><li>Q8A5W2</li><li>P54240</li><li>Q6GAW4</li><li>Q5FL04</li><li>Q83XM3</li><li>Q18FQ4</li><li>Q4K5Y1</li><li>Q711G1</li><li>Q7VUF4</li><li>Q65TC2</li><li>Q1MM06</li><li>Q59000</li><li>Q758L0</li><li>Q5L5E1</li><li>Q8P9S7</li><li>Q9RTL8</li><li>Q6KH90</li><li>P54238</li><li>Q4UTV8</li><li>P54239</li><li>Q9Z6N4</li><li>P54236</li><li>P54237</li><li>Q21M11</li><li>P54234</li><li>P54235</li><li>Q87EV7</li><li>Q9HIC2</li><li>P46479</li><li>Q2FZU0</li><li>Q6D022</li><li>Q11MA0</li><li>Q1J8N2</li><li>Q2VYV7</li><li>Q5QWW0</li><li>Q1WUR2</li><li>Q83D91</li><li>Q1CX51</li><li>Q9YE01</li><li>Q5L9E3</li><li>Q1JDQ8</li><li>P54241</li><li>P54242</li><li>Q1QEK1</li><li>P54243</li><li>P81181</li><li>P77877</li><li>Q9KX58</li><li>Q67QQ0</li><li>Q632G4</li><li>Q63V31</li><li>P78917</li><li>Q88UI4</li><li>Q822E7</li><li>Q3JRE2</li><li>P18240</li><li>Q328X7</li><li>Q609I7</li><li>Q3ASZ0</li><li>Q97WE5</li><li>Q8D1V8</li><li>Q2KYE9</li><li>Q9PMD4</li><li>Q4R591</li><li>P99078</li><li>Q1GAY0</li><li>Q8RHH5</li><li>Q5N0B4</li><li>O66954</li><li>Q3A201</li><li>Q3AXV8</li><li>Q6MTA3</li><li>Q3IMS0</li><li>Q6AQ48</li><li>Q5P0T4</li><li>Q8P2R3</li><li>Q6LXQ4</li><li>Q71X61</li><li>Q3ZBD7</li><li>Q7V1I1</li><li>P12709</li><li>Q7W197</li><li>Q2RQ51</li><li>P84140</li><li>Q5JE38</li><li>P49105</li><li>Q6A5X5</li><li>Q7VBZ6</li><li>Q742E4</li><li>Q9A1L1</li><li>Q9HGZ2</li><li>P08059</li><li>Q8KDQ7</li><li>Q87L81</li><li>Q5R4E3</li><li>Q0TA36</li><li>Q660E3</li><li>Q8G7I6</li><li>Q6MD44</li><li>Q98BV5</li><li>Q7V7M6</li><li>Q2KCY8</li><li>Q97NG0</li><li>Q5KVS7</li><li>P12341</li><li>Q8XYN9</li><li>Q888Q7</li><li>Q165T7</li><li>Q74DK5</li><li>Q9HNQ6</li><li>Q3IKH4</li><li>Q600A8</li><li>Q8CT80</li><li>Q7VNR9</li><li>Q2SS24</li><li>Q4JX51</li><li>Q848I4</li><li>Q6HC08</li><li>Q2LRD0</li><li>Q5SLL6</li><li>Q8ZAS2</li><li>Q4A7J2</li><li>Q1IYT4</li><li>Q21ZD5</li><li>Q5X6Y8</li><li>O83488</li><li>Q9ABK5</li><li>Q31TX1</li><li>Q3J2U4</li><li>Q64PM7</li><li>Q9RDY2</li><li>P80860</li><li>Q5H0A7</li><li>Q82SP4</li><li>Q664W9</li><li>P06745</li><li>P06744</li><li>Q59088</li><li>Q8ZWV0</li><li>Q6FRW1</li><li>P83194</li><li>Q8ZKI4</li><li>Q7U6T0</li><li>Q9PK16</li><li>Q891H2</li><li>Q8VVB7</li><li>P28718</li><li>Q4A5S9</li><li>Q8FB44</li><li>Q44407</li><li>P83780</li><li>Q1H1P4</li><li>Q4FVH5</li><li>Q98R79</li><li>Q2NR04</li><li>Q4ZY88</li><li>Q8YF86</li><li>Q2NJ38</li><li>Q5LRS9</li><li>Q978F3</li><li>Q5NFC4</li><li>Q48N88</li><li>Q2A2C5</li><li>Q46L16</li><li>Q7MH97</li><li>Q6LM51</li><li>Q5ZXH2</li><li>Q8XI54</li><li>Q8YY05</li><li>Q9FXM5</li><li>Q9FXM4</li><li>Q3K6Q4</li><li>P34795</li><li>Q1GJQ5</li><li>P34796</li><li>P34797</li><li>Q7MZB4</li><li>Q816G0</li><li>Q9X1A5</li><li>Q72MT7</li><li>Q31LL0</li><li>Q38WF1</li><li>Q9PGR6</li><li>Q8Y4R7</li><li>Q1ASN4</li><li>Q1JNM4</li><li>Q73K18</li>	Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	<li>rs34306618</li><li>rs2230294</li><li>rs8191371</li>	2
P06746	5423	<ul><li>P->R at 242: in dbSNP:rs3136797</ul>									rs3136797	2
P06753	7170	<ul><li>M->R at 8: in NEM1; decrease in the sensitivity of contraction to activating calcium, MIM: 609284</ul>							P38757	Nemaline myopathy type 1 (NEM1) [MIM:609284]		2
P06756	3685	<ul><li>I->V at 405: in dbSNP:rs3738918<li>V->I at 783: in dbSNP:rs2230616</ul>									<li>rs3738918</li><li>rs2230616</li>	2
P06858	4023	<ul><li>D->N at 36: in dbSNP:rs1801177<li>H->Q at 71: in dbSNP:rs11542065<li>R->S at 102: in LPL deficiency, MIM: 238600<li>W->G at 113: in chylomicronemia, MIM: 238600<li>W->R at 113: in chylomicronemia, MIM: 238600<li>H->R at 163: in chylomicronemia, MIM: 238600<li>G->E at 169: in chylomicronemia; loss of activity, MIM: 238600<li>G->S at 181: in chylomicronemia, MIM: 238600<li>D->G at 183: in chylomicronemia; loss of activity, MIM: 238600<li>D->N at 183: in chylomicronemia; loss of activity, MIM: 238600<li>P->R at 184: in chylomicronemia; Nijmegen; loss of activity, MIM: 238600<li>A->T at 185: in chylomicronemia; 3.2% of activity, MIM: 238600<li>S->C at 199: in LPL deficiency; mild hypertriglyceridemia; partial activity, MIM: 238600<li>A->T at 203: in chylomicronemia; Bethesda; loss of activity and abnormal heparin binding, MIM: 238600<li>D->E at 207: in chylomicronemia, MIM: 238600<li>H->Q at 210: in chylomicronemia; loss of activity, MIM: 238600<li>G->E at 215: in chylomicronemia; loss of activity, MIM: 238600<li>S->R at 220: in chylomicronemia, 2.o% of activity, MIM: 238600<li>I->T at 221: in chylomicronemia; loss of activity, MIM: 238600<li>G->E at 222: in LPL deficiency, MIM: 238600<li>D->E at 231: in chylomicronemia; loss of activity, MIM: 238600<li>I->S at 232: in chylomicronemia, MIM: 238600<li>P->L at 234: in LPL deficiency; loss of activity, MIM: 238600<li>C->S at 243: in chylomicronemia; loss of activity, MIM: 238600<li>R->H at 270: in chylomicronemia; loss of activity, MIM: 238600<li>S->T at 271: in chylomicronemia: in dbSNP rsrs28934893, MIM: 238600<li>D->N at 277: in chylomicronemia; 5% of full activity, MIM: 238600<li>S->C at 278: in chylomicronemia, MIM: 238600<li>S->G at 286: in chylomicronemia, MIM: 238600<li>S->R at 286: in chylomicronemia, MIM: 238600<li>A->T at 288: in dbSNP:rs1800011, MIM: 238600<li>N->S at 318: in LPL deficiency; loss of activity; frequent mutation; dbSNP:rs268, MIM: 238600<li>M->T at 328: in chylomicronemia, MIM: 238600<li>L->P at 330: in chylomicronemia, MIM: 238600<li>A->T at 361: in chylomicronemia, MIM: 238600<li>V->M at 370: in dbSNP:rs298, MIM: 238600<li>T->A at 379: in dbSNP:rs300, MIM: 238600<li>L->V at 392: in LPL deficiency; loss of activity, MIM: 238600<li>Missing  at 423-424: in chylomicronemia; affects the protein folding, MIM: 238600<li>A->T at 427: in dbSNP:rs5934, MIM: 238600<li>E->K at 437: in chylomicronemia, MIM: 238600<li>E->V at 437: in chylomicronemia, MIM: 238600</ul>	protein folding	GO:0006457	heparin binding	GO:0008201			<li>P49923</li><li>P11602</li><li>P06858</li><li>P49060</li><li>P55031</li><li>P11151</li><li>Q06000</li><li>P11152</li><li>P11153</li><li>Q29524</li><li>O46647</li>	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	<li>rs300</li><li>rs5934</li><li>rs298</li><li>rs268</li><li>rs11542065</li><li>rs1801177</li><li>rs28934893</li><li>rs1800011</li>	2
P06865	3073	<ul><li>P->S at 25: in GM2G1; late infantile, MIM: 272800<li>L->R at 39: in GM2G1; infantile, MIM: 272800<li>L->F at 127: in GM2G1, MIM: 272800<li>L->R at 127: in GM2G1; infantile, MIM: 272800<li>R->G at 166: in GM2G1; late infantile, MIM: 272800<li>R->Q at 170: in GM2G1; infantile; inactive or unstable protein, MIM: 272800<li>R->W at 170: in GM2G1; infantile, MIM: 272800<li>R->C at 178: in GM2G1; infantile; inactive protein, MIM: 272800<li>R->H at 178: in GM2G1; infantile; inactive protein, MIM: 272800<li>R->L at 178: in GM2G1; infantile: in dbSNP rsrs28941770, MIM: 272800<li>Y->H at 180: in GM2G1: in dbSNP rsrs28941771, MIM: 272800<li>V->L at 192: in GM2G1; infantile, MIM: 272800<li>N->S at 196: in GM2G1, MIM: 272800<li>K->T at 197: in GM2G1, MIM: 272800<li>V->M at 200: in GM2G1; dbSNP:rs1800429, MIM: 272800<li>H->R at 204: in GM2G1; infantile, MIM: 272800<li>S->F at 210: in GM2G1; infantile, MIM: 272800<li>F->S at 211: in GM2G1; infantile, MIM: 272800<li>S->F at 226: in GM2G1, MIM: 272800<li>R->W at 247: in HEXA pseudodeficiency, MIM: 272800<li>R->W at 249: in HEXA pseudodeficiency, MIM: 272800<li>G->D at 250: in GM2G1; juvenile, MIM: 272800<li>G->S at 250: in GM2G1, MIM: 272800<li>R->H at 252: in GM2G1, MIM: 272800<li>R->L at 252: in GM2G1, MIM: 272800<li>D->H at 258: in GM2G1; infantile, MIM: 272800<li>G->D at 269: in GM2G1, MIM: 272800<li>G->S at 269: in GM2G1; late onset; inhibited subunit dissociation, MIM: 272800<li>S->P at 279: in GM2G1; late infantile, MIM: 272800<li>N->S at 295: in GM2G1, MIM: 272800<li>M->R at 301: in GM2G1; infantile, MIM: 272800<li>Missing  at 304: in GM2G1; infantile; Moroccan Jewish, MIM: 272800<li>D->V at 314: in GM2G1, MIM: 272800<li>Missing  at 320: in GM2G1; late infantile, MIM: 272800<li>I->F at 335: in GM2G1, MIM: 272800<li>Missing  at 347-352: in GM2G1, MIM: 272800<li>V->M at 391: in GM2G1; mild; associated with spinal muscular atrophy, MIM: 272800<li>N->D at 399: in dbSNP:rs1800430, MIM: 272800<li>W->C at 420: in GM2G1; infantile; inactive protein, MIM: 272800<li>V->I at 436: in dbSNP:rs1800431, MIM: 272800<li>G->S at 454: in GM2G1; infantile, MIM: 272800<li>G->R at 455: in GM2G1; late infantile, MIM: 272800<li>C->Y at 458: in GM2G1; infantile, MIM: 272800<li>W->C at 474: in GM2G1; subacute, MIM: 272800<li>E->K at 482: in GM2G1; infantile, MIM: 272800<li>L->Q at 484: in GM2G1; infantile, MIM: 272800<li>W->R at 485: in GM2G1; infantile, MIM: 272800<li>R->C at 499: in GM2G1; infantile, MIM: 272800<li>R->H at 499: in GM2G1; juvenile, MIM: 272800<li>R->C at 504: in GM2G1; infantile: in dbSNP rsrs28942071, MIM: 272800<li>R->H at 504: in GM2G1; juvenile; inhibited subunit dissociation, MIM: 272800</ul>							<li>P06865</li><li>Q17020</li><li>Q5RC84</li><li>P49009</li>	GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	<li>rs28942071</li><li>rs1800429</li><li>rs28941770</li><li>rs1800431</li><li>rs1800430</li><li>rs28941771</li>	2
P06870	3816	<ul><li>R->H at 77: in dbSNP:rs5515<li>Q->E at 145: in dbSNP:rs5516<li>E->K at 186: in dbSNP:rs5517<li>V->E at 193: in dbSNP:rs5518</ul>									<li>rs5516</li><li>rs5517</li><li>rs5515</li><li>rs5518</li>	2
P06881	796	<ul><li>D->N at 57: in dbSNP:rs5239</ul>									rs5239	2
P07093	5270	<ul><li>I->M at 51: in dbSNP:rs3795875<li>K->N at 204: in a breast cancer sample; somatic mutation<li>TG->R at 329-330</ul>									rs3795875	2
P07098	8513	<ul><li>T->A at 161: in dbSNP:rs814628<li>F->I at 224: in dbSNP:rs6586145<li>P->T at 348: in dbSNP:rs17333991</ul>									<li>rs814628</li><li>rs6586145</li><li>rs17333991</li>	2
P07099	2052	<ul><li>R->T at 43: in dbSNP rsrs3738046<li>E->Q at 44<li>R->C at 49: in allele EPHX1*2; dbSNP:rs2234697<li>Y->H at 113: in allele EPHX1*3; 55% of wild type enzyme activity; dbSNP:rs1051740<li>H->R at 139: in allele EPHX1*4; 62% of wild type enzyme activity; dbSNP:rs2234922<li>L->P at 260: in allele EPHX1*1G<li>T->A at 275: in dbSNP:rs35073925<li>V->L at 285: in dbSNP rsrs45449793<li>T->I at 396: either a rare polymorphism or a sequencing error<li>T->M at 408: in dbSNP rsrs45495897<li>L->Q at 452: in dbSNP rsrs45563137<li>R->Q at 454: in allele EPHX1*5; dbSNP:rs2234701</ul>							<li>P07099</li><li>P79381</li><li>P04068</li>		<li>rs45563137</li><li>rs2234697</li><li>rs45449793</li><li>rs35073925</li><li>rs3738046</li><li>rs2234922</li><li>rs1051740</li><li>rs2234701</li><li>rs45495897</li>	2
P07101	7054	<ul><li>V->M at 112: common polymorphism; dbSNP:rs6356<li>R->H at 233: in ARDRD<li>L->P at 236: in ARDRD; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation<li>T->P at 276: in ARDRD; parkinsonian symptoms in infancy; dbSNP:rs28934581<li>T->M at 314: in ARDRD; parkinsonian symptoms in infancy<li>R->H at 337: in ARDRD; parkinsonian symptoms in infancy; dbSNP:rs28934580<li>Q->K at 412: in ARDRD; reduced affinity for L-tyrosine<li>T->M at 494: in ARDRD; parkinsonian symptoms in infancy; dbSNP:rs45471299<li>V->M at 499: in dbSNP:rs1800033</ul>			catalytic activity	GO:0003824					<li>rs1800033</li><li>rs45471299</li><li>rs28934581</li><li>rs28934580</li><li>rs6356</li>	2
P07108	1622	<ul><li>D->N at 39: in dbSNP:rs8192504<li>M->V at 71: in dbSNP:rs8192506<li>G->R at 86: in dbSNP:rs8192507</ul>									<li>rs8192504</li><li>rs8192507</li><li>rs8192506</li>	2
P07148	2168	<ul><li>A->T at 54: in dbSNP:rs1801273<li>T->A at 94: in dbSNP:rs2241883</ul>									<li>rs2241883</li><li>rs1801273</li>	2
P07195	3945	<ul><li>K->E at 7: in LDHB deficiency; slightly decreased activity<li>A->E at 35: in LDHB deficiency<li>G->E at 69: in LDHB deficiency<li>R->W at 107: in GUA1; LDHB deficiency; inactive<li>S->R at 129: in LDHB deficiency<li>F->V at 171: in LDHB deficiency<li>R->H at 172: in LDHB deficiency; unstable<li>R->P at 172: in LDHB deficiency<li>M->L at 175: in LDHB deficiency<li>M->V at 175: in dbSNP:rs7966339<li>Missing  at 223: in LDHB deficiency<li>D->V at 322: in LDHB deficiency<li>W->R at 325: in LDHB deficiency</ul>							<li>Q9XT86</li><li>P20373</li><li>P42122</li><li>Q5E9B1</li><li>P00336</li><li>P00337</li><li>Q98SK9</li><li>Q9P4B5</li><li>Q1EG91</li><li>Q9YGL2</li><li>P07195</li><li>P38625</li><li>Q9YI05</li><li>P13490</li><li>P13743</li><li>Q4R5B6</li><li>Q9PW05</li><li>Q9PW04</li><li>Q12658</li><li>Q9W7L4</li><li>Q98SL1</li><li>Q9PT42</li><li>P79913</li>		rs7966339	2
P07196	4747	<ul><li>E->K at 7: in a Charcot-Marie-Tooth disease patient: in dbSNP rsrs57848467<li>P->L at 8: in CMT1F, MIM: 607734<li>P->Q at 8: in CMT1F, MIM: 607734<li>P->R at 8: in CMT2E and CMT1F; severely reduced nerve conduction velocities in some patients, MIM: 607684<li>P->S at 22: in CMT2E: in dbSNP rsrs28928910, MIM: 607684<li>E->K at 90: in CMT1F: in dbSNP rsrs58332872, MIM: 607734<li>N->S at 98: in CMT1F: in dbSNP rsrs58982919, MIM: 607734<li>Q->P at 332: in CMT2E: in dbSNP rsrs59443585, MIM: 607684<li>L->P at 336: in CMT2E, MIM: 607684<li>E->K at 396: in CMT1F: in dbSNP rsrs57105105, MIM: 607734<li>D->N at 468: in dbSNP rsrs57153321, MIM: 607734<li>Missing  at 527: in CMT1F, MIM: 607734</ul>								<li>Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]</li><li>Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]</li>	<li>rs57153321</li><li>rs58332872</li><li>rs28928910</li><li>rs59443585</li><li>rs57105105</li><li>rs58982919</li><li>rs57848467</li>	2
P07202	7173	<ul><li>A->P at 53: in CHDH2A, MIM: 274500<li>D->N at 240: in CHDH2A; loss of activity, MIM: 274500<li>A->S at 257: in dbSNP:rs4927611, MIM: 274500<li>N->T at 307: in CHDH2A, MIM: 274500<li>A->T at 326: in CHDH2A, MIM: 274500<li>A->S at 373: in dbSNP:rs2280132, MIM: 274500<li>E->K at 378: in CHDH2A, MIM: 274500<li>S->T at 398: in dbSNP:rs2175977, MIM: 274500<li>V->M at 433: in CHDH2A, MIM: 274500<li>I->F at 447: in CHDH2A, MIM: 274500<li>Y->D at 453: in CHDH2A, MIM: 274500<li>L->P at 458: in CHDH2A, MIM: 274500<li>R->H at 491: in CHDH2A, MIM: 274500<li>G->S at 493: in CHDH2A, MIM: 274500<li>P->L at 499: in CHDH2A, MIM: 274500<li>W->C at 527: in CHDH2A, MIM: 274500<li>G->C at 533: in CHDH2A; partial defect; expression slightly lower in efficiency and more degenerative than wild-type enzyme, MIM: 274500<li>Missing  at 574-575: in CHDH2A; partial defect; expressed on the plasma membrane surface at less than half the rate of wild-type enzyme, MIM: 274500<li>G->S at 590: in CHDH2A, MIM: 274500<li>V->M at 618: in dbSNP:rs10189135, MIM: 274500<li>R->Q at 648: in CHDH2A, MIM: 274500<li>Q->E at 660: in CHDH2A, MIM: 274500<li>R->W at 665: in CHDH2A; fails to localize to the plasma membrane, MIM: 274500<li>R->W at 693: in CHDH2A, MIM: 274500<li>M->V at 706: in dbSNP:rs13431173, MIM: 274500<li>T->P at 725: in dbSNP:rs732609, MIM: 274500<li>G->R at 771: in CHDH2A; fails to localize to the plasma membrane, MIM: 274500<li>L->P at 793: in dbSNP:rs28991293, MIM: 274500<li>D->Y at 796: in CHDH2A, MIM: 274500<li>E->K at 799: in CHDH2A, MIM: 274500<li>C->R at 808: in CHDH2A, MIM: 274500<li>V->I at 839: in CHDH2A, MIM: 274500<li>R->W at 846: in dbSNP:rs28913014, MIM: 274500<li>V->A at 847: in dbSNP:rs1126799, MIM: 274500</ul>					plasma membrane	GO:0005886		Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	<li>rs4927611</li><li>rs2175977</li><li>rs1126799</li><li>rs2280132</li><li>rs13431173</li><li>rs10189135</li><li>rs28913014</li><li>rs28991293</li><li>rs732609</li>	2
P07203	2876	<ul><li>R->P at 5: in dbSNP rsrs8179169<li>A->AA at 11<li>A->AAA at 11<li>A->T at 192<li>P->L at 198: in 30% of the population; associated with an increased risk of cancer; dbSNP:rs1050450</ul>									rs8179169	2
P07204	7056	<ul><li>A->T at 43: in dbSNP:rs1800576<li>G->A at 79: in dbSNP:rs1800577<li>A->P at 162: in dbSNP:rs36110902<li>A->V at 473: in dbSNP:rs1042579<li>D->Y at 486: in THR-THBDD: in dbSNP rsrs41348347, MIM: 188040<li>P->S at 495: in dbSNP:rs1800578, MIM: 188040<li>P->L at 501: in dbSNP:rs1800579, MIM: 188040</ul>								Thrombophilia due to thrombomodulin defect (THR-THBDD) [MIM:188040]	<li>rs1042579</li><li>rs36110902</li><li>rs1800578</li><li>rs1800579</li><li>rs1800576</li><li>rs1800577</li><li>rs41348347</li>	2
P07225	5627	<ul><li>L->H at 15: in PROS1D, MIM: 612336<li>V->E at 18: in PROS1D; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336<li>R->L at 40: in PROS1D; dbSNP:rs7614835, MIM: 612336<li>R->H at 41: in PROS1D, MIM: 612336<li>K->E at 50: in PROS1D, MIM: 612336<li>G->D at 52: in PROS1D; does not affect PROS1 production but results in 15.2-fold reduced PROS1 activity; has 5.4 fold reduced affinity for anionic phospholipid vesicles , MIM: 612336<li>E->A at 67: in PROS1D, MIM: 612336<li>A->D at 68: in PROS1D, MIM: 612336<li>F->C at 72: in PROS1D, MIM: 612336<li>P->L at 76, MIM: 612336<li>T->M at 78: in PROS1D; reduces expression of PROS1 by 33.2% : in dbSNP rsrs6122, MIM: 612336<li>V->L at 87: in PROS1D, MIM: 612336<li>C->Y at 88: in PROS1D, MIM: 612336<li>R->C at 90: in PROS1D; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336<li>R->H at 90: in PROS1D, MIM: 612336<li>G->E at 95: in PROS1D, MIM: 612336<li>G->R at 95: in PROS1D; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1, MIM: 612336<li>T->S at 98, MIM: 612336<li>R->C at 101: in PROS1D, MIM: 612336<li>R->S at 111: in PROS1D, MIM: 612336<li>C->Y at 121: in PROS1D, MIM: 612336<li>D->G at 129: in PROS1D, MIM: 612336<li>T->N at 144: in PROS1D, MIM: 612336<li>W->C at 149: in PROS1D, MIM: 612336<li>D->G at 157: in PROS1D, MIM: 612336<li>C->G at 161: in PROS1D, MIM: 612336<li>N->Y at 166: in PROS1D, MIM: 612336<li>N->S at 168, MIM: 612336<li>C->F at 175: in PROS1D, MIM: 612336<li>C->Y at 186: in PROS1D, MIM: 612336<li>K->E at 196: in PROS1D; Tokushima; the specific activity decreases to 58% of that of the wild-type PROS1; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1, MIM: 612336<li>E->G at 204: in PROS1D, MIM: 612336<li>R->K at 233: in PROS1D; expresses lower : in dbSNP rsrs41267007, MIM: 612336<li>C->S at 241: in PROS1D, MIM: 612336<li>D->N at 243: in PROS1D, MIM: 612336<li>D->G at 245: in PROS1D, MIM: 612336<li>C->G at 247: in PROS1D, MIM: 612336<li>E->K at 249: in PROS1D, MIM: 612336<li>N->S at 258: in PROS1D; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336<li>C->R at 265: in PROS1D, MIM: 612336<li>C->W at 265: in PROS1D, MIM: 612336<li>Y->C at 266: in PROS1D, MIM: 612336<li>C->S at 267: in PROS1D, MIM: 612336<li>L->P at 300: in PROS1D, MIM: 612336<li>S->P at 324: in PROS1D, MIM: 612336<li>G->D at 336: in PROS1D, MIM: 612336<li>G->S at 336: in PROS1D, MIM: 612336<li>G->V at 336: in PROS1D; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336<li>L->P at 339: in PROS1D, MIM: 612336<li>L->P at 351: in PROS1D, MIM: 612336<li>R->H at 355: in PROS1D, MIM: 612336<li>G->R at 357: in PROS1D, MIM: 612336<li>K->E at 364: in PROS1D, MIM: 612336<li>D->N at 376: in PROS1D, MIM: 612336<li>G->D at 381: in PROS1D, MIM: 612336<li>G->V at 381: in PROS1D, MIM: 612336<li>W->R at 383: in PROS1D, MIM: 612336<li>M->V at 385, MIM: 612336<li>E->K at 390: in PROS1D, MIM: 612336<li>L->P at 446: in PROS1D, MIM: 612336<li>C->S at 449: in PROS1D, MIM: 612336<li>C->R at 475: in PROS1D, MIM: 612336<li>G->C at 482: in PROS1D, MIM: 612336<li>Y->C at 485: in PROS1D, MIM: 612336<li>I->V at 495: in dbSNP:rs5017712, MIM: 612336<li>S->A at 501: in PROS1D, MIM: 612336<li>S->P at 501: variant Heerlen; could be associated with PROS1D, MIM: 612336<li>V->G at 508: in PROS1D, MIM: 612336<li>V->M at 508: in PROS1D, MIM: 612336<li>R->C at 515: in PROS1D; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant, MIM: 612336<li>R->P at 515: in PROS1D, MIM: 612336<li>G->D at 521: in PROS1D, MIM: 612336<li>A->P at 525: in PROS1D, MIM: 612336<li>L->S at 526: in PROS1D, MIM: 612336<li>T->A at 532: in PROS1D, MIM: 612336<li>E->G at 545: in a colorectal cancer sample; somatic mutation, MIM: 612336<li>L->S at 552: in PROS1D, MIM: 612336<li>I->M at 559, MIM: 612336<li>R->G at 561: in PROS1D, MIM: 612336<li>I->L at 562: in PROS1D; could be a polymorphism, MIM: 612336<li>C->Y at 568: in PROS1D, MIM: 612336<li>L->R at 575: in PROS1D, MIM: 612336<li>N->H at 583, MIM: 612336<li>L->Q at 584: in PROS1D, MIM: 612336<li>M->K at 611: in PROS1D, MIM: 612336<li>M->T at 611: in PROS1D, MIM: 612336<li>A->P at 616: in PROS1D, MIM: 612336<li>L->R at 622: in PROS1D, MIM: 612336<li>T->I at 630: in PROS1D; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1, MIM: 612336<li>Y->C at 636: in PROS1D; shows intracellular degradation and decreased secretion, MIM: 612336<li>G->D at 638: in PROS1D, MIM: 612336<li>C->F at 639: in PROS1D, MIM: 612336<li>C->Y at 639: in PROS1D, MIM: 612336<li>M->T at 640: in PROS1D, MIM: 612336<li>I->S at 644: in PROS1D, MIM: 612336<li>H->P at 664: in PROS1D; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336<li>S->L at 665: in PROS1D, MIM: 612336<li>C->R at 666: in PROS1D, MIM: 612336<li>P->L at 667: in PROS1D, MIM: 612336</ul>	secretion	GO:0046903			intracellular	GO:0005622	<li>P98118</li><li>Q28066</li><li>Q28520</li><li>P20851</li><li>P07224</li><li>P07225</li>	Protein S deficiency (PROS1D) [MIM:612336]	<li>rs5017712</li><li>rs41267007</li><li>rs7614835</li><li>rs6122</li>	2
P07288	354	<ul><li>E->K at 32: in dbSNP:rs2271092<li>L->I at 132: in dbSNP:rs2003783<li>I->T at 179: in dbSNP:rs17632542</ul>									<li>rs17632542</li><li>rs2003783</li><li>rs2271092</li>	2
P07315	1420	<ul><li>T->P at 5: in CCL; interactions between Pro-5 mutants themselves were unchanged versus wild-type CRYGC indicating that homogeneous interaction sites or domains differ from those used in heterogeneous interactions, MIM: 604307<li>F->L at 6: in dbSNP:rs2242072, MIM: 604307<li>R->H at 48, MIM: 604307<li>R->W at 169: in cataract; congenital lamellar, MIM: 604307</ul>							P07315	Coppock-like cataract (CCL) [MIM:604307]	rs2242072	2
P07316		<ul><li>S->I at 73<li>R->T at 90: in dbSNP:rs2241980<li>L->I at 111: in dbSNP:rs796287</ul>									<li>rs2241980</li><li>rs796287</li>	2
P07320	1421	<ul><li>R->C at 15: in progressive punctate cataract; forms disulfide-linked oligomers, MIM: 123690<li>P->S at 24: in PCC; dbSNP:rs28931605, MIM: 601286<li>P->T at 24: in CCA3 and lamellar cataract; lowered solubility, MIM: 608983<li>R->S at 37: in cataract; very low solubility; crystallizes spontaneously, MIM: 608983<li>R->H at 59: in CACA; lowered solubility; crystallizes easily, MIM: 115700<li>M->V at 102, MIM: 115700<li>E->A at 107: in PCC, MIM: 601286</ul>							O08764	<li>Progressive punctate cataract [MIM:123690]</li><li>Congenital cerulean cataract 3 (CCA3) [MIM:608983]</li><li>Crystalline aculeiform cataract (CACA) [MIM:115700]</li><li>Autosomal dominant non-nuclear polymorphic congenital cataract (PCC) [MIM:601286]</li>		2
P07332	2242	<ul><li>R->C at 85: in dbSNP rsrs56041861<li>R->Q at 246: in dbSNP rsrs34573430<li>M->V at 323: in dbSNP rsrs56296062</ul>									<li>rs34573430</li><li>rs56041861</li><li>rs56296062</li>	2
P07333	1436	<ul><li>V->G at 32: in dbSNP rsrs56048668<li>V->M at 279: in dbSNP:rs3829986<li>H->R at 362: in dbSNP:rs10079250<li>G->S at 413: in dbSNP rsrs34951517<li>L->V at 536: in dbSNP rsrs55942044<li>P->H at 693: in a lung squamous cell carcinoma sample; somatic mutation<li>E->D at 920: in dbSNP:rs34030164<li>R->Q at 921: in dbSNP rsrs56059682<li>Y->C at 969: in dbSNP:rs1801271</ul>									<li>rs10079250</li><li>rs34030164</li><li>rs34951517</li><li>rs1801271</li><li>rs56059682</li><li>rs55942044</li><li>rs3829986</li><li>rs56048668</li>	2
P07339	1509	<ul><li>A->V at 58: associated with increased risk in AD; possibly influences secretion and intracellular maturation; dbSNP:rs17571<li>F->I at 229: in CLN10, MIM: 610127<li>W->C at 383: in CLN10, MIM: 610127</ul>	secretion	GO:0046903			intracellular	GO:0005622		Neuronal ceroid lipofuscinosis 10 (CLN10) [MIM:610127]	rs17571	2
P07355	302	<ul><li>V->L at 98: in dbSNP rsrs17845226</ul>									rs17845226	2
P07357	731	<ul><li>Q->K at 93: in allele C8A*B; dbSNP:rs652785<li>T->I at 407: in dbSNP:rs706479<li>D->N at 458: in dbSNP:rs17114555<li>R->L at 485: in dbSNP:rs1620075<li>E->Q at 561: in dbSNP:rs1342440<li>P->L at 575: in dbSNP:rs17300936</ul>							<li>P98136</li><li>P07357</li>		<li>rs1620075</li><li>rs652785</li><li>rs17114555</li><li>rs706479</li><li>rs1342440</li><li>rs17300936</li>	2
P07358		<ul><li>E->K at 108: in dbSNP:rs12067507<li>R->G at 117: in allotype C8B A; 5% of the population; dbSNP:rs1013579<li>P->L at 261: in dbSNP:rs12085435</ul>							<li>P98137</li><li>P07358</li><li>Q90X85</li><li>Q9PVW7</li>		<li>rs12085435</li><li>rs12067507</li>	2
P07359	2811	<ul><li>R->H at 72: in dbSNP:rs6068<li>L->F at 73: in BSS, MIM: 231200<li>C->R at 81: in BSS, MIM: 231200<li>L->F at 86: in dbSNP:rs13306411, MIM: 231200<li>L->P at 145: in BSS, MIM: 231200<li>T->M at 161: in Siba: in dbSNP rsrs6065, MIM: 231200<li>A->V at 172: in BSS and benign mediterranean macrothrombocytopenia, MIM: 231200<li>Missing  at 195: in BSS, MIM: 231200<li>C->S at 225: in BSS, MIM: 231200<li>G->S at 249: in pseudo-vWD, MIM: 231200<li>G->V at 249: in pseudo-vWD, MIM: 231200<li>A->S at 254: in dbSNP:rs382524, MIM: 231200<li>M->V at 255: in pseudo-vWD; increased binding to vWF, MIM: 231200</ul>			binding	GO:0005488			<li>P80012</li><li>Q28833</li><li>P04275</li><li>Q8CIZ8</li><li>Q28295</li>	<li>Benign mediterranean macrothrombocytopenia [MIM:153670]</li><li>Bernard-Soulier syndrome (BSS) [MIM:231200]</li>	<li>rs382524</li><li>rs6065</li><li>rs13306411</li><li>rs6068</li>	2
P07360	733	<ul><li>R->Q at 69: in dbSNP:rs17614<li>D->G at 118: in dbSNP:rs7850844<li>H->N at 124: in dbSNP:rs17613</ul>									<li>rs7850844</li><li>rs17614</li><li>rs17613</li>	2
P07384	823	<ul><li>T->A at 103: in dbSNP:rs17885718<li>R->P at 433: in dbSNP:rs10895991<li>G->R at 492: in dbSNP:rs17883283<li>V->I at 676: in dbSNP:rs17884773</ul>									<li>rs17883283</li><li>rs17885718</li><li>rs17884773</li><li>rs10895991</li>	2
P07451	761	<ul><li>V->I at 31: in dbSNP:rs20571</ul>									rs20571	2
P07476	3713	<ul><li>T->A at 113: in dbSNP:rs2229496<li>L->P at 166: in dbSNP:rs11205133<li>K->E at 174: in dbSNP:rs12035307<li>E->Q at 237: in dbSNP:rs7520711<li>Q->K at 312: in dbSNP:rs11205137<li>V->L at 480: in dbSNP:rs7545520</ul>									<li>rs11205133</li><li>rs2229496</li><li>rs11205137</li><li>rs12035307</li><li>rs7520711</li><li>rs7545520</li>	2
P07477	5644	<ul><li>A->V at 16: in HPC; disrupts signal sequence cleavage site, MIM: 167800<li>D->G at 22: in HPC; increased rate of activation, MIM: 167800<li>K->R at 23: in HPC; increased rate of activation, MIM: 167800<li>N->I at 29: in HPC, MIM: 167800<li>N->T at 29: in HPC, MIM: 167800<li>N->S at 54: in HPC; associated with Ile-29; the double mutant shows increased autocatalytic activation which is solely due to the Ile-29 mutation, MIM: 167800<li>E->K at 79: in HPC; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect: in dbSNP rsrs28934902, MIM: 167800<li>L->P at 104: in HPC, MIM: 167800<li>R->C at 116: in HPC, MIM: 167800<li>R->C at 122: in HPC; suppresses an autocleavage site, MIM: 167800<li>R->H at 122: in HPC; suppresses an autocleavage site which is probably part of a fail-safe mechanism by which trypsin, which is activated within the pancreas, may be inactivated; loss of this cleavage site would permit autodigestion resulting in pancreatitis, MIM: 167800<li>T->M at 137: in a colorectal cancer sample; somatic mutation, MIM: 167800<li>C->F at 139: in HPC, MIM: 167800</ul>							<li>P05821</li><li>P13345</li><li>P23630</li><li>P13344</li><li>P35050</li><li>P23916</li><li>P07478</li><li>P51728</li><li>Q03709</li><li>P24664</li><li>Q59149</li><li>Q9T1X2</li><li>P10099</li><li>P15176</li><li>P83348</li>	Hereditary pancreatitis (HPC) [MIM:167800]	rs28934902	2
P07478	5645	<ul><li>A->V at 117: in dbSNP:rs11547028</ul>									rs11547028	2
P07492	2922	<ul><li>S->R at 4: in dbSNP:rs1062557</ul>									rs1062557	2
P07498	1448	<ul><li>Y->C at 75: in dbSNP:rs17850702<li>R->L at 110: in dbSNP:rs1048152<li>A->T at 145: in dbSNP:rs3775739</ul>									<li>rs1048152</li><li>rs17850702</li><li>rs3775739</li>	2
P07510	1146	<ul><li>V->G at 107: in Escobar syndrome and multiple pterygium syndrome; lethal type, MIM: 265000<li>A->T at 149: in dbSNP:rs2289080, MIM: 265000<li>R->C at 239: in Escobar syndrome and multiple pterygium syndrome; lethal type, MIM: 265000</ul>								Escobar syndrome [MIM:265000]	rs2289080	2
P07550	154	<ul><li>N->S at 15: in dbSNP:rs33973603<li>R->G at 16: common polymorphism; in nocturnal asthma; dbSNP:rs1042713<li>Q->E at 27: in dbSNP:rs1042714<li>V->M at 34<li>I->F at 159<li>I->L at 159<li>T->I at 164: in dbSNP:rs1800888<li>S->C at 220: in dbSNP:rs3729943<li>K->R at 375</ul>									<li>rs1042713</li><li>rs33973603</li><li>rs1042714</li><li>rs1800888</li><li>rs3729943</li>	2
P07585	1634	<ul><li>T->M at 268: in dbSNP:rs3138268<li>E->Q at 273: in dbSNP:rs1803344</ul>									<li>rs3138268</li><li>rs1803344</li>	2
P07602	5660	<ul><li>Missing  at 70: in AKRD<li>N->H at 215: in MLD; reduces the intracellular activity of the protein significantly, MIM: 249900<li>N->K at 215: in MLD, MIM: 249900<li>T->I at 217: in MLD; juvenile, MIM: 249900<li>C->S at 241: in MLD; severe; dbSNP:rs1130793, MIM: 249900<li>L->P at 349: in AGD, MIM: 610539<li>C->F at 388: in AGD, MIM: 610539</ul>					intracellular	GO:0005622		<li>Atypical Gaucher disease (AGD) [MIM:610539]</li><li>Metachromatic leukodystrophy (MLD) [MIM:249900]</li>	rs1130793	2
P07686	3074	<ul><li>S->L at 62: in GM2G2; dbSNP:rs820878, MIM: 268800<li>K->R at 121: in dbSNP:rs11556045, MIM: 268800<li>I->V at 207: probable polymorphism; dbSNP:rs10805890, MIM: 268800<li>S->R at 255: in GM2G2, MIM: 268800<li>C->Y at 309: in GM2G2; adult type; severe; almost complete absence of activity, MIM: 268800<li>P->L at 417: in GM2G2: in dbSNP rsrs28942073, MIM: 268800<li>Y->S at 456: in GM2G2, MIM: 268800<li>P->S at 504: in GM2G2, MIM: 268800<li>R->Q at 505: in GM2G2, MIM: 268800<li>C->Y at 534: in GM2G2; infantile type, MIM: 268800<li>A->T at 543: in GM2G2, MIM: 268800</ul>								GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	<li>rs10805890</li><li>rs820878</li><li>rs28942073</li><li>rs11556045</li>	2
P07741	353	<ul><li>D->V at 65: in APRT deficiency; Icelandic type, MIM: 102600<li>L->P at 110: in APRT deficiency; Newfoundland type, MIM: 102600<li>Q->R at 121: in dbSNP:rs8191494, MIM: 102600<li>M->T at 136: in APRT deficiency; Japanese type; allele APRT*J; most common mutation; dbSNP:rs28999113, MIM: 102600<li>V->F at 150: in APRT deficiency, MIM: 102600<li>C->R at 153: in APRT deficiency, MIM: 102600<li>Missing  at 173: in APRT deficiency, MIM: 102600</ul>							<li>Q7VKQ4</li><li>Q64414</li><li>Q8RAL9</li><li>Q884U6</li><li>Q7UR74</li><li>O42842</li><li>P07741</li><li>Q6F1J0</li><li>Q7V0X5</li><li>Q7NGZ0</li><li>Q5PFK3</li><li>P43856</li><li>P08030</li><li>O33174</li><li>Q92N62</li><li>Q8DZA4</li><li>Q88F33</li><li>Q63XK0</li><li>Q5YTF5</li><li>O87330</li><li>Q5LZD4</li><li>P54363</li><li>Q6LTE9</li><li>Q8P8F9</li><li>Q50637</li><li>Q5GZA0</li><li>Q5WHQ1</li><li>Q65U83</li><li>Q8XD48</li><li>Q7WEY7</li><li>Q7W089</li><li>Q74IU0</li><li>P47518</li><li>Q88VH0</li><li>Q87MQ1</li><li>Q04633</li><li>Q9ZLQ9</li><li>Q5ALX8</li><li>Q4QJV7</li><li>Q6BZF9</li><li>Q8Y2B9</li><li>Q8YNI3</li><li>Q9JYB4</li><li>Q9CHT5</li><li>Q7VAL5</li><li>Q8KLQ0</li><li>Q9HRT1</li><li>P52561</li><li>P68781</li><li>P68780</li><li>Q8A2N8</li><li>Q93AJ8</li><li>Q8RDM9</li><li>P47202</li><li>Q65GQ8</li><li>Q8EPR5</li><li>Q8EFG1</li><li>Q8E4W5</li><li>Q6N1B4</li><li>Q8FPL0</li><li>Q83M42</li><li>P68778</li><li>P68779</li><li>Q81LI1</li><li>Q8G6B5</li><li>Q74CZ3</li><li>Q5HFC8</li><li>Q64427</li><li>Q5QWS1</li><li>Q7N0N9</li><li>Q9KT52</li><li>Q6GG69</li><li>Q6MPK7</li><li>Q834G6</li><li>Q7TTW1</li><li>Q5UX13</li><li>Q634D6</li><li>Q71ZE6</li><li>Q8DT95</li><li>Q7V7D8</li><li>P91455</li><li>Q9JT95</li><li>Q7VGF2</li><li>Q5FJP9</li><li>Q5XCH4</li><li>P73935</li><li>Q892A7</li><li>Q7VRB8</li><li>Q59049</li><li>Q7M8W8</li><li>Q73M27</li><li>Q9RFQ2</li><li>Q9PQ02</li><li>Q5M3Y6</li><li>P57841</li><li>O31060</li><li>Q65ZZ7</li><li>P12426</li><li>Q6MTD4</li><li>Q8TXQ0</li><li>Q8DGH9</li><li>Q6G8T4</li><li>P47957</li><li>Q6CA53</li><li>P47958</li><li>O25296</li><li>P47952</li><li>Q730C4</li><li>Q5FSN7</li><li>Q8UD91</li><li>P47956</li><li>P59959</li><li>Q9PP06</li><li>Q8ZRA2</li><li>Q60AN2</li><li>Q827T5</li><li>Q5NII9</li><li>Q7MIV1</li><li>Q601D6</li><li>Q8CS95</li><li>Q66DQ2</li><li>Q6HDB8</li><li>Q650H6</li><li>Q6NGY0</li><li>Q89SB5</li><li>Q8EXN2</li><li>Q8EUA8</li><li>P63548</li><li>Q9RQF8</li><li>P63545</li><li>P63544</li><li>P63547</li><li>P63546</li><li>O34443</li><li>Q817X3</li><li>P75388</li><li>P63543</li><li>P63542</li><li>Q97GU0</li><li>Q8Z8T4</li><li>Q6A8K3</li><li>O51718</li><li>Q8PJY6</li><li>Q7W3L2</li><li>Q5KWS2</li><li>P36972</li><li>Q6D800</li><li>Q9KDH2</li><li>Q82XS2</li><li>Q5N1I0</li><li>Q741P3</li><li>Q98HV0</li><li>Q98QN9</li><li>Q5LNY7</li><li>Q756E2</li><li>P69503</li><li>Q7NRK9</li><li>O84001</li><li>P69504</li><li>Q8XJ22</li><li>Q5HNR6</li><li>Q5HUN2</li><li>Q6CWV0</li><li>Q6KI92</li><li>Q9X1A4</li><li>Q8DB25</li><li>Q75FP0</li><li>Q5E463</li><li>Q8KFM9</li><li>Q56JW4</li><li>Q67LM3</li><li>O27375</li><li>P0A2X6</li><li>P0A2X5</li><li>Q8ZC94</li><li>Q7NBS4</li>	APRT deficiency [MIM:102600]	<li>rs8191494</li><li>rs28999113</li>	2
P07814	2058	<ul><li>A->P at 296: in dbSNP:rs35999099<li>E->D at 308: in dbSNP:rs2230301<li>H->Q at 334: in dbSNP:rs1063236<li>P->H at 893: in dbSNP:rs5030751<li>I->V at 1043: in dbSNP:rs5030752<li>S->F at 1107: in dbSNP:rs12144752<li>T->N at 1399: in dbSNP:rs34559775</ul>									<li>rs5030752</li><li>rs35999099</li><li>rs5030751</li><li>rs12144752</li><li>rs2230301</li><li>rs34559775</li><li>rs1063236</li>	2
P07858	1508	<ul><li>L->V at 26: in dbSNP:rs12338<li>S->G at 53: in dbSNP:rs1803250<li>P->L at 91: in dbSNP:rs11548596<li>S->N at 235: in dbSNP:rs17573</ul>									<li>rs1803250</li><li>rs12338</li><li>rs17573</li><li>rs11548596</li>	2
P07864	3948	<ul><li>E->Q at 285: in dbSNP:rs2230150</ul>									rs2230150	2
P07902	2592	<ul><li>D->Y at 28: in galactosemia, MIM: 230400<li>I->N at 32: in galactosemia; mild, MIM: 230400<li>Q->P at 38: in galactosemia, MIM: 230400<li>V->L at 44: in galactosemia, MIM: 230400<li>V->M at 44: in galactosemia; reduced enzyme activity, MIM: 230400<li>S->L at 45: in galactosemia, MIM: 230400<li>R->L at 51: in galactosemia, MIM: 230400<li>R->Q at 51: in galactosemia, MIM: 230400<li>G->C at 55: in galactosemia, MIM: 230400<li>L->M at 62: in dbSNP:rs1800461, MIM: 230400<li>R->C at 67: in galactosemia, MIM: 230400<li>L->P at 74: in galactosemia; reduced enzyme activity, MIM: 230400<li>A->T at 81: in galactosemia, MIM: 230400<li>N->S at 97: in galactosemia, MIM: 230400<li>D->N at 98: in galactosemia, MIM: 230400<li>D->N at 113: in galactosemia, MIM: 230400<li>H->L at 114: in galactosemia, MIM: 230400<li>F->S at 117: in galactosemia, MIM: 230400<li>Q->H at 118: in galactosemia, MIM: 230400<li>R->G at 123: in galactosemia, MIM: 230400<li>R->Q at 123: in galactosemia, MIM: 230400<li>V->A at 125: in galactosemia, MIM: 230400<li>K->E at 127: in galactosemia, MIM: 230400<li>M->T at 129: in galactosemia, MIM: 230400<li>C->Y at 130: in galactosemia, MIM: 230400<li>H->Y at 132: in galactosemia, MIM: 230400<li>S->L at 135: in galactosemia; frequent mutation in African Americans; about 5% of normal activity, MIM: 230400<li>S->W at 135: in galactosemia, MIM: 230400<li>T->M at 138: in galactosemia; mild, MIM: 230400<li>L->P at 139: in galactosemia, MIM: 230400<li>M->K at 142: in galactosemia; 4% of normal activity, MIM: 230400<li>M->V at 142: in galactosemia, MIM: 230400<li>S->L at 143: in galactosemia, MIM: 230400<li>R->G at 148: in galactosemia, MIM: 230400<li>R->Q at 148: in galactosemia, MIM: 230400<li>R->W at 148: in galactosemia; unstable protein, MIM: 230400<li>V->L at 150: in galactosemia, MIM: 230400<li>V->A at 151: in galactosemia; approximatively 3% of normal activity, MIM: 230400<li>W->G at 154: in galactosemia, MIM: 230400<li>W->R at 167: in galactosemia, MIM: 230400<li>F->S at 171: in galactosemia; reduced enzyme activity, MIM: 230400<li>G->D at 179: in galactosemia, MIM: 230400<li>P->T at 183: in galactosemia, MIM: 230400<li>H->Q at 184: in galactosemia, MIM: 230400<li>Q->R at 188: in galactosemia; most common mutation; accounts for approximately 70% of galactosemia alleles tested; 10% of normal activity, MIM: 230400<li>S->N at 192: in galactosemia, MIM: 230400<li>F->L at 194: in galactosemia, MIM: 230400<li>L->P at 195: in galactosemia; no enzymatic activity, MIM: 230400<li>I->M at 198: in galactosemia, MIM: 230400<li>I->T at 198: in galactosemia, MIM: 230400<li>A->T at 199: in galactosemia, MIM: 230400<li>R->H at 201: in galactosemia, MIM: 230400<li>E->K at 203: in galactosemia, MIM: 230400<li>R->P at 204: in galactosemia, MIM: 230400<li>Y->C at 209: in galactosemia, MIM: 230400<li>Y->S at 209: in galactosemia, MIM: 230400<li>Q->H at 212: in galactosemia, MIM: 230400<li>L->P at 217: in galactosemia, MIM: 230400<li>L->P at 226: in galactosemia, MIM: 230400<li>K->N at 229: in galactosemia, MIM: 230400<li>R->H at 231: in galactosemia; 15% of normal activity, MIM: 230400<li>W->R at 249: in galactosemia, MIM: 230400<li>Y->C at 251: in galactosemia, MIM: 230400<li>Y->S at 251: in galactosemia, MIM: 230400<li>Q->H at 252: in galactosemia, MIM: 230400<li>R->C at 258: in galactosemia, MIM: 230400<li>R->W at 259: in galactosemia; mild, MIM: 230400<li>R->P at 262: in galactosemia, MIM: 230400<li>Missing  at 263: in galactosemia, MIM: 230400<li>R->G at 272: in galactosemia, MIM: 230400<li>L->V at 282: in galactosemia, MIM: 230400<li>K->N at 285: in galactosemia; severe; 25-40% of the European population, MIM: 230400<li>L->R at 289: in galactosemia, MIM: 230400<li>E->K at 291: in galactosemia, MIM: 230400<li>F->Y at 294: in galactosemia, MIM: 230400<li>E->K at 308: in galactosemia, MIM: 230400<li>N->D at 314: in Duarte; exists in two different types, D-1 with normal or increased activity and D-2 with an activity reduced to about 35-45% of normal; dbSNP:rs2070074, MIM: 230400<li>Q->H at 317: in galactosemia, MIM: 230400<li>Q->R at 317: in galactosemia, MIM: 230400<li>H->Q at 319: in galactosemia, MIM: 230400<li>A->T at 320: in galactosemia, MIM: 230400<li>Y->D at 323: in galactosemia, MIM: 230400<li>Y->H at 323: in galactosemia, MIM: 230400<li>P->S at 324: in galactosemia, MIM: 230400<li>P->L at 325: in galactosemia, MIM: 230400<li>R->H at 328: in galactosemia, MIM: 230400<li>S->F at 329: in galactosemia, MIM: 230400<li>A->V at 330: in galactosemia; mild, MIM: 230400<li>R->G at 333: in galactosemia, MIM: 230400<li>R->Q at 333: in galactosemia, MIM: 230400<li>R->W at 333: in galactosemia; no enzymatic activity, MIM: 230400<li>K->R at 334: in galactosemia, MIM: 230400<li>M->L at 336: in galactosemia, MIM: 230400<li>Q->K at 344: in galactosemia, MIM: 230400<li>T->A at 350: in galactosemia; mild, MIM: 230400</ul>								Galactosemia [MIM:230400]	<li>rs2070074</li><li>rs1800461</li>	2
P07910	3183	<ul><li>R->Q at 167: in dbSNP:rs3272</ul>									rs3272	2
P07911	7369	<ul><li>C->Y at 77: in HNFJ, MIM: 162000<li>VCPEG->AASC at 93-97: in MCKD2, MIM: 162000<li>G->C at 103: in MCKD2: in dbSNP rsrs28934584, MIM: 603860<li>C->R at 126: in HNFJ, MIM: 162000<li>N->S at 128: in HNFJ, MIM: 162000<li>C->W at 148: in MCKD2/HNFJ; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000<li>C->Y at 148: in HNFJ: in dbSNP rsrs28934582, MIM: 162000<li>C->S at 150: in MCKD2/HNFJ; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000<li>C->R at 217: in HNFJ: in dbSNP rsrs28934583, MIM: 162000<li>C->Y at 223: in HNFJ, MIM: 162000<li>T->K at 225: in MCKD2, MIM: 603860<li>C->W at 248: in MCKD2, MIM: 603860<li>C->Y at 255: in HNFJ, MIM: 162000<li>C->G at 300: in HNFJ, MIM: 162000<li>C->R at 315: in glomerulocystic kidney disease; with hyperuricemia and isosthenuria; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000<li>C->Y at 317: in MCKD2/HNFJ; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000</ul>					<li>plasma membrane</li><li>ER</li>	<li>GO:0005886</li><li>GO:0005783</li>		<li>Familial juvenile hyperuricemic nephropathy (HNFJ) [MIM:162000]</li><li>Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]</li>	<li>rs28934584</li><li>rs28934583</li><li>rs28934582</li>	2
P07919	7388	<ul><li>E->Q at 51: in dbSNP:rs34813470</ul>									rs34813470	2
P07942	3912	<ul><li>V->A at 670: in dbSNP:rs20555<li>G->S at 860: in dbSNP:rs35710474<li>R->Q at 1022: in dbSNP:rs20556</ul>									<li>rs20556</li><li>rs20555</li><li>rs35710474</li>	2
P07947	7525	<ul><li>I->V at 198: in dbSNP:rs34580680<li>K->R at 282: in dbSNP rsrs35126906</ul>									<li>rs35126906</li><li>rs34580680</li>	2
P07948	4067	<ul><li>D->Y at 385: in a breast pleomorphic lobular carcinoma sample; somatic mutation</ul>										2
P07949	5979	<ul><li>P->L at 20: in HSCR; sporadic form, MIM: 142623<li>S->L at 32: in HSCR; familial form, MIM: 142623<li>L->P at 40: in HSCR, MIM: 142623<li>P->L at 64: in HSCR; familial form, MIM: 142623<li>R->H at 67: in CCHS, MIM: 209880<li>R->C at 77: in HSCR, MIM: 142623<li>G->S at 93: in HSCR; could be a rare polymorphism, MIM: 142623<li>R->H at 114: in CCHS, MIM: 209880<li>C->S at 142: in HSCR; sporadic form, MIM: 142623<li>V->G at 145: in a colorectal cancer sample; somatic mutation, MIM: 142623<li>C->Y at 157: in HSCR; could be a polymorphism, MIM: 142623<li>R->Q at 163: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 142623<li>F->S at 174: in HSCR; sporadic form, MIM: 142623<li>R->P at 180: in HSCR; sporadic form, MIM: 142623<li>C->Y at 197: in HSCR; sporadic form, MIM: 142623<li>P->T at 198: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830<li>R->H at 231: in HSCR; familial form, MIM: 142623<li>E->K at 251: in HSCR; familial form, MIM: 142623<li>T->N at 278: in dbSNP:rs35118262, MIM: 142623<li>R->Q at 287: in HSCR; sporadic form, MIM: 142623<li>V->M at 292: in dbSNP:rs34682185, MIM: 142623<li>R->Q at 313: in HSCR; sporadic form, MIM: 142623<li>R->Q at 330: in HSCR, MIM: 142623<li>N->K at 359: in HSCR; could be a polymorphism, MIM: 142623<li>R->W at 360: in HSCR, MIM: 142623<li>V->A at 376: in renal adysplasia; constitutively phosphorylated; expressed only the immature intracellular form, MIM: 191830<li>F->L at 393: in HSCR; familial form, MIM: 142623<li>N->H at 394: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830<li>N->K at 394: in HSCR, MIM: 142623<li>P->L at 399: in HSCR; sporadic form, MIM: 142623<li>A->E at 432: in CCHS, MIM: 209880<li>R->Q at 475: in HSCR; sporadic form, MIM: 142623<li>D->N at 489: in dbSNP:rs9282834, MIM: 142623<li>C->CEEC at 531: in MTC; familial form, MIM: 142623<li>G->E at 593: in a colorectal cancer sample; somatic mutation, MIM: 142623<li>R->Q at 600: probably a rare polymorphism, MIM: 142623<li>C->G at 609: in MEN2A, MIM: 171400<li>C->R at 609: in MEN2A, MIM: 171400<li>C->W at 609: in HSCR; familial form, MIM: 142623<li>C->Y at 609: in MTC, MEN2A and HSCR; familial and sporadic forms, MIM: 171400<li>C->G at 611: in MTC; familial form, MIM: 155240<li>C->R at 611: in MEN2A, MIM: 171400<li>C->S at 611: in MEN2A, MIM: 171400<li>C->W at 611: in MEN2A and MTC; familial form, MIM: 171400<li>C->Y at 611: in MEN2A, MIM: 171400<li>C->F at 618: in MEN2A and MTC; familial form, MIM: 171400<li>C->G at 618: in MEN2A, MIM: 171400<li>C->R at 618: in MEN2A, MTC and HSCR, MIM: 171400<li>C->S at 618: in MEN2A, HSCR and MTC; familial and sporadic forms, MIM: 171400<li>C->Y at 618: in MEN2A and MTC; familial form, MIM: 171400<li>C->F at 620: in MEN2A and MTC; familial form, MIM: 171400<li>C->G at 620: in MEN2A and MTC; familial and sporadic forms, MIM: 171400<li>C->R at 620: in MEN2A, MTC and HSCR; familial and sporadic forms, MIM: 171400<li>C->S at 620: in MEN2A and MTC; familial form, MIM: 171400<li>C->W at 620: in MEN2A and HSCR, MIM: 171400<li>C->Y at 620: in MEN2A, MIM: 171400<li>Q->K at 626: in HSCR; sporadic form, MIM: 142623<li>C->F at 630: in MEN2A and MTC; familial form, MIM: 171400<li>C->S at 630: in MTC; sporadic form, MIM: 155240<li>C->Y at 630: in MTC; familial and sporadic forms, MIM: 155240<li>D->G at 631: in thyroid carcinoma; somatic mutation, MIM: 155240<li>ELC->DVR at 632-634: in MEN2A, MIM: 155240<li>CR->WG at 634-635: in MEN2A, MIM: 155240<li>C->CHELC at 634: in MEN2A, MIM: 155240<li>C->F at 634: in MEN2A and pheochromocytoma, MIM: 171300<li>C->G at 634: in MEN2A and pheochromocytoma, MIM: 171300<li>C->R at 634: in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma, MIM: 171300<li>C->S at 634: in MEN2A, pheochromocytoma and MTC; familial form, MIM: 171300<li>C->W at 634: in MEN2A, pheochromocytoma and MTC; familial form, MIM: 171300<li>C->Y at 634: in MEN2A, pheochromocytoma and MTC; familial form, MIM: 171300<li>T->TCRT at 636: in MEN2A, MIM: 171300<li>A->G at 639: in MTC; sporadic form, MIM: 155240<li>A->G at 640: in MEN2A, MIM: 171400<li>A->G at 641: in MTC; sporadic form, MIM: 155240<li>S->P at 690: in HSCR; sporadic form, MIM: 142623<li>G->S at 691: in dbSNP:rs1799939, MIM: 142623<li>R->T at 749: in dbSNP:rs34288963, MIM: 142623<li>E->Q at 762: in HSCR; sporadic form, MIM: 142623<li>S->P at 765: in HSCR, MIM: 142623<li>S->R at 767: in HSCR; sporadic form, MIM: 142623<li>E->D at 768: in MTC; familial and sporadic forms, MIM: 155240<li>V->I at 778: in renal adysplasia; constitutively phosphorylated, MIM: 191830<li>L->F at 790: in MEN2A and MTC; familial form, MIM: 171400<li>Y->F at 791: in HSCR, pheochromocytoma, MTC and MEN2A; familial form, MIM: 171300<li>V->L at 804: in MTC; familial form, MIM: 155240<li>V->M at 804: in MTC; familial form, MIM: 155240<li>R->Q at 813: in HSCR; sporadic form, MIM: 142623<li>Y->S at 826: in dbSNP:rs34617196, MIM: 142623<li>R->L at 844: in MTC; familial form; dbSNP:rs55947360, MIM: 155240<li>R->Q at 873: in HSCR; sporadic form, MIM: 142623<li>A->F at 883: in MEN2B; somatic mutation in sporadic medullary thyroid carcinoma; requires 2 nucleotide substitutions, MIM: 162300<li>S->A at 891: in MTC; familial form, MIM: 155240<li>F->L at 893: in HSCR; sporadic form, MIM: 142623<li>G->S at 894: in renal adysplasia; constitutively phosphorylated; expressed only the immature intracellular form, MIM: 191830<li>R->Q at 897: in HSCR; sporadic form, MIM: 142623<li>K->E at 907: in HSCR; sporadic form, MIM: 142623<li>M->T at 918: in renal adysplasia, MEN2B and MTC; sporadic form; somatic mutation, MIM: 191830<li>E->K at 921: in HSCR; sporadic form, MIM: 142623<li>S->F at 922: in MTC; sporadic form, MIM: 155240<li>S->Y at 922: rare polymorphism, MIM: 155240<li>T->M at 946: in MEN2B and MTC; familial form, MIM: 162300<li>R->G at 972: in HSCR; familial form, MIM: 142623<li>P->L at 973: in HSCR; familial form, MIM: 142623<li>M->T at 980: in HSCR; sporadic form, MIM: 142623<li>R->C at 982: in dbSNP:rs17158558, MIM: 142623<li>P->L at 1039: in CCHS; with colonic aganglionosis, MIM: 209880<li>P->Q at 1039, MIM: 209880<li>P->L at 1049: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830<li>Missing  at 1059: in HSCR, MIM: 191830<li>L->P at 1061: in HSCR, MIM: 142623<li>M->T at 1064: in HSCR; familial form, MIM: 142623<li>P->S at 1067: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830<li>F->Y at 1112: in a bladder transitional cell carcinoma sample; somatic mutation, MIM: 191830</ul>	phosphorylation	GO:0016310			intracellular	GO:0005622	<li>P67983</li><li>P67982</li><li>P39905</li>	<li>Congenital central hypoventilation syndrome (CCHS) [MIM:209880]</li><li>Hirschsprung disease (HSCR) [MIM:142623]</li><li>Medullary thyroid carcinoma (MTC) [MIM:155240]</li><li>Multiple neoplasia type 2A (MEN2A) [MIM:171400]</li><li>Multiple neoplasia type 2B (MEN2B) [MIM:162300]</li><li>Pheochromocytoma [MIM:171300]</li><li>Renal adysplasia [MIM:191830]</li>	<li>rs34617196</li><li>rs1799939</li><li>rs34288963</li><li>rs35118262</li><li>rs17158558</li><li>rs55947360</li><li>rs34682185</li><li>rs9282834</li>	2
P07951	7169	<ul><li>R->G at 91: in DA1, MIM: 108120<li>E->A at 117: in NEM4, MIM: 609285<li>Q->P at 147: in NEM4, MIM: 609285<li>E->K at 273: in dbSNP:rs3180843, MIM: 609285</ul>							P28861	<li>Nemaline myopathy type 4 (NEM4) [MIM:609285]</li><li>Distal arthrogryposis type 1 (DA1) [MIM:108120]</li>	rs3180843	2
P07954	2271	<ul><li>N->T at 107: in MCUL1, MIM: 150800<li>A->P at 117: in MCUL1, MIM: 150800<li>H->R at 180: in MCUL1, MIM: 150800<li>Q->R at 185: in MCUL1, MIM: 150800<li>K->R at 230: in FD and MCUL1, MIM: 150800<li>R->H at 233: in MCUL1: in dbSNP rsrs28933069, MIM: 150800<li>G->V at 282: in MCUL1, MIM: 150800<li>A->T at 308: in FD, MIM: 606812<li>F->C at 312: in FD, MIM: 606812<li>M->R at 328: in HLRCC, MIM: 605839<li>D->V at 425: in FD, MIM: 606812</ul>								<li>Fumarase deficiency (FD) [MIM:606812]</li><li>Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]</li><li>Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839]</li>	rs28933069	2
P07988	6439	<ul><li>T->I at 131: in dbSNP:rs1130866<li>L->F at 176: in dbSNP:rs3024801<li>A->I at 228: requires 2 nucleotide substitutions<li>A->R at 228: requires 2 nucleotide substitutions<li>R->C at 236: in SMDP1, MIM: 265120<li>R->H at 272: in dbSNP:rs3024809, MIM: 265120</ul>								Pulmonary surfactant metabolism dysfunction type 1 (SMDP1) [MIM:265120]	<li>rs3024801</li><li>rs1130866</li><li>rs3024809</li>	2
P07992	2067	<ul><li>F->L at 231: in COFS4, MIM: 610758<li>A->T at 266: in dbSNP:rs3212977, MIM: 610758</ul>								Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]	rs3212977	2
P07996	7057	<ul><li>S->A at 24: in dbSNP:rs41515347<li>T->A at 523: in dbSNP:rs2292305<li>N->S at 700: in dbSNP:rs2228262</ul>									<li>rs2292305</li><li>rs2228262</li><li>rs41515347</li>	2
P08034	2705	<ul><li>W->R at 3: in CMTX1, MIM: 302800<li>W->S at 3: in CMTX1, MIM: 302800<li>YT->S at 7-8: in CMTX1, MIM: 302800<li>Y->C at 7: in CMTX1, MIM: 302800<li>T->I at 8: in CMTX1, MIM: 302800<li>T->P at 8: in CMTX1, MIM: 302800<li>L->W at 9: in CMTX1, MIM: 302800<li>S->G at 11: in CMTX1, MIM: 302800<li>G->S at 12: in CMTX1, MIM: 302800<li>V->L at 13: in CMTX1, MIM: 302800<li>V->M at 13: in CMTX1, MIM: 302800<li>N->K at 14: in CMTX1, MIM: 302800<li>R->Q at 15: in CMTX1, MIM: 302800<li>R->W at 15: in CMTX1; moderate, MIM: 302800<li>H->P at 16: in CMTX1, MIM: 302800<li>IG->NS at 20-21: in CMTX1, MIM: 302800<li>I->S at 20: in CMTX1, MIM: 302800<li>G->D at 21: in CMTX1, MIM: 302800<li>R->G at 22: in CMTX1; non-functional channel, MIM: 302800<li>R->P at 22: in CMTX1, MIM: 302800<li>R->Q at 22: in CMTX1; can be associated with Ile-63, MIM: 302800<li>V->A at 23: in CMTX1, MIM: 302800<li>W->C at 24: in CMTX1, MIM: 302800<li>L->F at 25: in CMTX1, MIM: 302800<li>L->P at 25: in CMTX1, MIM: 302800<li>S->L at 26: in CMTX1, MIM: 302800<li>S->W at 26: in CMTX1; severe, MIM: 302800<li>I->IIF at 28: in CMTX1, MIM: 302800<li>I->N at 28: in CMTX1, MIM: 302800<li>I->T at 28: in CMTX1, MIM: 302800<li>F->L at 29: in CMTX1, MIM: 302800<li>I->N at 30: in CMTX1, MIM: 302800<li>I->T at 30: in CMTX1, MIM: 302800<li>M->I at 34: in CMTX1; localized in the Golgi apparatus but also forming rare small junction-like plaques, MIM: 302800<li>M->K at 34: in CMTX1; localized to the endoplasmic reticulum, MIM: 302800<li>M->T at 34: in CMTX1; functional channel; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800<li>M->V at 34: in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques, MIM: 302800<li>V->M at 35: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>V->M at 37: in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques, MIM: 302800<li>V->M at 38: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800<li>A->P at 39: in CMTX1, MIM: 302800<li>A->V at 39: in CMTX1, MIM: 302800<li>A->T at 40: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800<li>A->V at 40: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800<li>E->K at 41: in CMTX1, MIM: 302800<li>V->M at 43: in CMTX1, MIM: 302800<li>W->L at 44: in CMTX1, MIM: 302800<li>S->P at 49: in CMTX1, MIM: 302800<li>S->Y at 49: in CMTX1, MIM: 302800<li>S->P at 50: in CMTX1, MIM: 302800<li>C->S at 53: in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane, MIM: 302800<li>T->A at 55: in CMTX1, MIM: 302800<li>T->I at 55: in CMTX1, MIM: 302800<li>T->R at 55: in CMTX1, MIM: 302800<li>L->F at 56: in CMTX1; functional channel, MIM: 302800<li>Q->H at 57: in CMTX1, MIM: 302800<li>P->R at 58: in CMT-1, MIM: 302800<li>G->C at 59: in CMTX1, MIM: 302800<li>G->R at 59: in CMTX1, MIM: 302800<li>C->F at 60: in CMTX1; moderate, MIM: 302800<li>V->I at 63: in CMTX1; can be associated with Gln-22, MIM: 302800<li>C->F at 64: in CMTX1; moderate, MIM: 302800<li>C->S at 64: in CMTX1, MIM: 302800<li>Y->C at 65: in CMTX1, MIM: 302800<li>Y->H at 65: in CMTX1, MIM: 302800<li>Missing  at 66: in CMTX1, MIM: 302800<li>F->L at 69: in CMTX1, MIM: 302800<li>P->A at 70: in CMTX1, MIM: 302800<li>R->P at 75: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800<li>R->Q at 75: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800<li>R->W at 75: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800<li>W->S at 77: in CMTX1, MIM: 302800<li>Q->R at 80: in CMTX1, MIM: 302800<li>L->F at 81: in CMTX1, MIM: 302800<li>L->P at 83: in CMTX1, MIM: 302800<li>V->I at 84: in CMTX1, MIM: 302800<li>S->C at 85: in CMTX1; mutant have a higher open probability than hemichannels formed of GJB1 wild-type, MIM: 302800<li>S->F at 85: in CMTX1, MIM: 302800<li>T->A at 86: in CMTX1; moderate, MIM: 302800<li>T->N at 86: in CMTX1, MIM: 302800<li>T->S at 86: in CMTX1, MIM: 302800<li>P->A at 87: in CMTX1, MIM: 302800<li>P->L at 87: in CMTX1, MIM: 302800<li>P->S at 87: in CMTX1, MIM: 302800<li>L->P at 89: in CMTX1, MIM: 302800<li>L->H at 90: in CMTX1, MIM: 302800<li>L->V at 90: in CMTX1, MIM: 302800<li>V->M at 91: in CMTX1, MIM: 302800<li>M->V at 93: in CMTX1, MIM: 302800<li>H->D at 94: in CMTX1, MIM: 302800<li>H->Q at 94: in CMTX1; non-functional channel, MIM: 302800<li>H->Y at 94: in CMTX1, MIM: 302800<li>V->M at 95: in CMTX1; non-functional channel, MIM: 302800<li>H->Y at 100: in CMTX1; mild/moderate, MIM: 302800<li>E->G at 102: in CMTX1; mild phenotype; increased sensitivity to acidification-induced closure, MIM: 302800<li>Missing  at 102: in CMTX1, MIM: 302800<li>K->E at 103: in CMTX1, MIM: 302800<li>K->T at 104: in CMTX1, MIM: 302800<li>R->W at 107: in CMTX1, MIM: 302800<li>L->P at 108: in CMTX1, MIM: 302800<li>Missing  at 111-116: in CMTX1, MIM: 302800<li>V->E at 120: in CMTX1, MIM: 302800<li>Missing  at 120: in CMTX1, MIM: 302800<li>K->N at 124: in CMTX1, MIM: 302800<li>V->D at 125: in CMTX1, MIM: 302800<li>H->Y at 126: in CMTX1, MIM: 302800<li>I->M at 127: in CMTX1, MIM: 302800<li>I->S at 127: in CMTX1, MIM: 302800<li>S->P at 128: in CMTX1, MIM: 302800<li>T->I at 130: in CMTX1, MIM: 302800<li>L->P at 131: in CMTX1, MIM: 302800<li>W->C at 133: in CMTX1; moderate, MIM: 302800<li>W->R at 133: in CMTX1, MIM: 302800<li>Y->C at 135: in CMTX1, MIM: 302800<li>V->A at 136: in CMTX1; demyelinating form; associated with W-359 in the EGR2 gene in a DSS Korean girl, MIM: 302800<li>S->N at 138: in CMTX1, MIM: 302800<li>V->M at 139: in CMTX1, MIM: 302800<li>F->L at 141: in CMTX1, MIM: 302800<li>R->E at 142: in CMTX1; requires 2 nucleotide substitutions, MIM: 302800<li>R->Q at 142: in CMTX1, MIM: 302800<li>R->W at 142: in CMTX1; moderate, MIM: 302800<li>Missing  at 143: in CMTX1, MIM: 302800<li>E->K at 146: in CMTX1, MIM: 302800<li>A->D at 147: in CMTX1, MIM: 302800<li>F->I at 149: in CMTX1, MIM: 302800<li>F->V at 149: in CMTX1; pathogenicity uncertain, MIM: 302800<li>Y->S at 151: in CMTX1, MIM: 302800<li>F->S at 153: in CMTX1, MIM: 302800<li>L->F at 156: in CMTX1, MIM: 302800<li>L->R at 156: in CMTX1, MIM: 302800<li>Y->C at 157: in CMTX1, MIM: 302800<li>P->A at 158: in CMTX1, MIM: 302800<li>P->R at 158: in CMTX1, MIM: 302800<li>P->S at 158: in CMTX1, MIM: 302800<li>G->D at 159: in CMTX1, MIM: 302800<li>G->S at 159: in CMTX1, MIM: 302800<li>Y->H at 160: in CMTX1, MIM: 302800<li>A->P at 161: in CMTX1, MIM: 302800<li>R->Q at 164: in CMTX1, MIM: 302800<li>R->W at 164: in CMTX1; moderate, MIM: 302800<li>C->R at 168: in CMTX1; demyelinating form, MIM: 302800<li>C->Y at 168: in CMTX1, MIM: 302800<li>P->A at 172: in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane, MIM: 302800<li>P->L at 172: in CMTX1, MIM: 302800<li>P->R at 172: in CMTX1, MIM: 302800<li>P->S at 172: in CMTX1, MIM: 302800<li>C->R at 173: in CMTX1, MIM: 302800<li>N->D at 175: in CMT-1, MIM: 302800<li>V->A at 177: in CMTX1, MIM: 302800<li>V->E at 177: in CMTX1, MIM: 302800<li>D->Y at 178: in CMTX1, MIM: 302800<li>C->R at 179: in CMTX1, MIM: 302800<li>F->L at 180: in CMTX1, MIM: 302800<li>F->S at 180: in CMTX1, MIM: 302800<li>V->A at 181: in CMTX1; profoundly impaired in their ability to support the earliest stages of regeneration of myelinated fibers, MIM: 302800<li>V->M at 181: in CMTX1, MIM: 302800<li>S->T at 182: in CMTX1, MIM: 302800<li>R->C at 183: in CMTX1, MIM: 302800<li>R->H at 183: in CMTX1, MIM: 302800<li>R->S at 183: in CMTX1, MIM: 302800<li>P->L at 184: in CMTX1, MIM: 302800<li>P->R at 184: in CMTX1, MIM: 302800<li>Missing  at 185: in CMTX1, MIM: 302800<li>E->K at 186: in CMTX1; non-functional channel, MIM: 302800<li>K->E at 187: in CMTX1, MIM: 302800<li>V->G at 189: in CMTX1, MIM: 302800<li>V->I at 189: in CMTX1, MIM: 302800<li>Missing  at 191-193: in CMTX1, MIM: 302800<li>T->A at 191: in CMTX1, MIM: 302800<li>V->F at 192: in CMTX1, MIM: 302800<li>F->C at 193: in CMTX1, MIM: 302800<li>F->L at 193: in CMTX1, MIM: 302800<li>M->V at 194: in CMTX1, MIM: 302800<li>S->F at 198: in CMTX1, MIM: 302800<li>G->R at 199: in CMTX1, MIM: 302800<li>C->R at 201: in CMTX1; severe, MIM: 302800<li>C->Y at 201: in CMTX1, MIM: 302800<li>I->N at 203: in CMTX1, MIM: 302800<li>L->F at 204: in CMTX1, MIM: 302800<li>L->V at 204: in CMTX1, MIM: 302800<li>N->I at 205: in CMTX1; localized to the endoplasmic reticulum, MIM: 302800<li>N->S at 205: in CMTX1; mild, MIM: 302800<li>E->G at 208: in CMTX1, MIM: 302800<li>E->K at 208: in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling, MIM: 302800<li>Missing  at 209: in CMTX1, MIM: 302800<li>Y->H at 211: in CMTX1, MIM: 302800<li>II->L at 213-214: in CMTX1, MIM: 302800<li>I->V at 213: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>R->Q at 215: in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling, MIM: 302800<li>R->W at 215: in CMTX1; mild/moderate; non-functional channel, MIM: 302800<li>R->C at 219: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>R->H at 219: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>R->G at 220: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>R->C at 230: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>R->L at 230: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>F->C at 235: in CMTX1; the mutation causes abnormal hemichannel opening with excessive permeability of the plasma membrane and decreased cell survival, MIM: 302800<li>R->H at 238: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>L->I at 239: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800<li>R->C at 264: in CMTX1, MIM: 302800<li>C->G at 280: in CMTX1; forms channels normally, MIM: 302800</ul>	acidification	GO:0045851			<li>Golgi apparatus</li><li>cell membrane</li><li>endoplasmic reticulum</li><li>gap junction</li>	<li>GO:0005794</li><li>GO:0005886</li><li>GO:0005783</li><li>GO:0005921</li>	<li>Q60HF7</li><li>O18968</li><li>P08034</li><li>P11161</li><li>P26635</li><li>P26634</li><li>Q6WGK6</li><li>P26633</li>	Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]		2
P08047	6667	<ul><li>T->A at 737: in dbSNP:rs3741665</ul>									rs3741665	2
P08069	3480	<ul><li>V->L at 105: in a renal chromophobe sample; somatic mutation<li>R->Q at 138: in IGF1 resistance; has decreased IGF1R function<li>K->N at 145: in IGF1 resistance; has decreased IGF1R function<li>V->M at 388: in dbSNP rsrs45445894<li>R->H at 437: in dbSNP:rs34516635<li>R->Q at 511: in dbSNP:rs33958176<li>R->H at 595: in dbSNP rsrs56248469<li>R->H at 605: in dbSNP rsrs45553041<li>R->Q at 739: in IGF1 resistance; leads to failure of processing of the IGF1R proreceptor to mature IGF1R<li>H->R at 808: in dbSNP:rs34061581<li>A->T at 828: in dbSNP:rs35224135<li>N->S at 857: in dbSNP rsrs45611935<li>A->T at 1338: in dbSNP rsrs34102392<li>A->V at 1347: in a lung squamous cell carcinoma sample; somatic mutation</ul>							<li>P17647</li><li>Q6IVA5</li><li>P05019</li><li>Q6GUL6</li><li>Q28933</li><li>Q68LC0</li><li>P16545</li><li>P51457</li><li>Q05688</li><li>P07455</li><li>P51458</li><li>P51462</li><li>P01343</li><li>P08069</li><li>P10763</li><li>Q6JLX1</li><li>Q95222</li><li>Q29000</li><li>P33712</li><li>P18254</li>		<li>rs56248469</li><li>rs34061581</li><li>rs35224135</li><li>rs45553041</li><li>rs45445894</li><li>rs34102392</li><li>rs34516635</li><li>rs45611935</li><li>rs33958176</li>	2
P08100	6010	<ul><li>T->K at 4: in RP4, MIM: 180380<li>N->S at 15: in RP4, MIM: 180380<li>T->M at 17: in RP4, MIM: 180380<li>P->H at 23: in RP4; most common variant, MIM: 180380<li>P->L at 23: in RP4, MIM: 180380<li>Q->H at 28: in RP4, MIM: 180380<li>L->R at 40: in RP4, MIM: 180380<li>M->T at 44: in RP4, MIM: 180380<li>F->L at 45: in RP4, MIM: 180380<li>L->R at 46: in RP4, MIM: 180380<li>G->A at 51: effect not known, MIM: 180380<li>G->R at 51: in RP4, MIM: 180380<li>G->V at 51: in RP4, MIM: 180380<li>P->R at 53: in RP4: in dbSNP rsrs28933395, MIM: 180380<li>T->R at 58: in RP4: in dbSNP rsrs28933394, MIM: 180380<li>Missing  at 68-71: in RP4, MIM: 180380<li>V->D at 87: in RP4, MIM: 180380<li>G->D at 89: in RP4, MIM: 180380<li>G->D at 90: in CSNBAD1, MIM: 610445<li>T->I at 94: in CSNBAD1, MIM: 610445<li>V->I at 104, MIM: 610445<li>G->R at 106: in RP4: in dbSNP rsrs28933994, MIM: 180380<li>G->W at 106: in RP4, MIM: 180380<li>G->R at 109: in RP4, MIM: 180380<li>C->F at 110: in RP4, MIM: 180380<li>C->Y at 110: in RP4, MIM: 180380<li>G->D at 114: in RP4, MIM: 180380<li>L->R at 125: in RP4, MIM: 180380<li>S->F at 127: in RP4, MIM: 180380<li>L->P at 131: in RP4, MIM: 180380<li>R->G at 135: in RP4, MIM: 180380<li>R->L at 135: in RP4, MIM: 180380<li>R->W at 135: in RP4, MIM: 180380<li>C->S at 140: in RP4, MIM: 180380<li>E->K at 150: in ARRP, MIM: 268000<li>A->E at 164: in RP4, MIM: 180380<li>A->V at 164: in RP4, MIM: 180380<li>C->R at 167: in RP4, MIM: 180380<li>P->L at 171: in RP4, MIM: 180380<li>P->Q at 171: in RP4, MIM: 180380<li>P->S at 171: in RP4, MIM: 180380<li>Y->C at 178: in RP4, MIM: 180380<li>Y->N at 178: in RP4, MIM: 180380<li>E->K at 181: in RP4, MIM: 180380<li>G->S at 182: in RP4, MIM: 180380<li>S->P at 186: in RP4, MIM: 180380<li>G->E at 188: in RP4, MIM: 180380<li>G->R at 188: in RP4, MIM: 180380<li>D->G at 190: in RP4, MIM: 180380<li>D->N at 190: in RP4: in dbSNP rsrs28933992, MIM: 180380<li>D->Y at 190: in RP4: in dbSNP rsrs28933992, MIM: 180380<li>M->R at 207: in RP4: in dbSNP rsrs28933995, MIM: 180380<li>V->M at 209: effect not known, MIM: 180380<li>H->P at 211: in RP4: in dbSNP rsrs28933993, MIM: 180380<li>H->R at 211: in RP4, MIM: 180380<li>M->K at 216: in RP4, MIM: 180380<li>F->C at 220: in RP4, MIM: 180380<li>C->R at 222: in RP4, MIM: 180380<li>Missing  at 255: in RP4, MIM: 180380<li>Missing  at 264: in RP4, MIM: 180380<li>P->L at 267: in RP4, MIM: 180380<li>P->R at 267: in RP4, MIM: 180380<li>A->E at 292: in CSNBAD1, MIM: 610445<li>K->E at 296: in RP4: in dbSNP rsrs29001653, MIM: 180380<li>S->R at 297: in RP4, MIM: 180380<li>T->M at 342: in RP4, MIM: 180380<li>V->L at 345: in RP4, MIM: 180380<li>V->M at 345: in RP4, MIM: 180380<li>P->A at 347: in RP4, MIM: 180380<li>P->L at 347: in RP4; common variant: in dbSNP rsrs29001566, MIM: 180380<li>P->Q at 347: in RP4, MIM: 180380<li>P->R at 347: in RP4: in dbSNP rsrs29001566, MIM: 180380<li>P->S at 347: in RP4: in dbSNP rsrs29001637, MIM: 180380</ul>							<li>P05749</li><li>P41042</li>	<li>Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]</li><li>Retinitis pigmentosa type 4 (RP4) [MIM:180380]</li><li>Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]</li>	<li>rs28933992</li><li>rs28933993</li><li>rs28933994</li><li>rs28933395</li><li>rs29001653</li><li>rs28933995</li><li>rs28933394</li><li>rs29001637</li><li>rs29001566</li>	2
P08107	3303	<ul><li>I->V at 95<li>E->D at 110: in dbSNP:rs17856061 and dbSNP:rs562047<li>A->V at 467<li>N->S at 499: in dbSNP:rs17855850 and dbSNP:rs483638</ul>									<li>rs17855850 and dbSNP:rs483638</li><li>rs17856061 and dbSNP:rs562047</li>	2
P08118	4477	<ul><li>L->S at 17: in dbSNP:rs1804776<li>I->M at 25: in dbSNP:rs1804778<li>W->R at 52: in dbSNP:rs1804780<li>Q->R at 53: in dbSNP:rs1804468<li>D->A at 80: in dbSNP:rs1802774<li>I->T at 87: in dbSNP:rs1802771<li>E->G at 91: in dbSNP:rs1804469<li>D->G at 92: in dbSNP:rs1804461<li>V->L at 98: in dbSNP:rs1804464</ul>									<li>rs1804461</li><li>rs1802771</li><li>rs1804780</li><li>rs1804464</li><li>rs1802774</li><li>rs1804468</li><li>rs1804776</li><li>rs1804469</li><li>rs1804778</li>	2
P08123	1278	<ul><li>T->P at 59: in dbSNP:rs1800221<li>Missing  at 76-93: in EDS7B<li>Missing  at 181-198: in OI-IV<li>G->D at 211: in OI-I, MIM: 166200<li>I->N at 249: in dbSNP:rs1800228, MIM: 166200<li>V->I at 270: in dbSNP:rs368468, MIM: 166200<li>A->T at 276: in dbSNP:rs1800231, MIM: 166200<li>G->S at 328: in OI-III, MIM: 259420<li>G->D at 331: in OI-III, MIM: 259420<li>G->C at 334: in OI-II, MIM: 166210<li>G->C at 337: in OI-III, MIM: 259420<li>G->S at 337: in OI-I, MIM: 166200<li>Missing  at 345: in OI-III, MIM: 166200<li>G->C at 349: in OI-III, MIM: 259420<li>G->V at 409: in OI-II, MIM: 166210<li>G->E at 433: in OI-II, MIM: 166210<li>G->S at 460: in OI-III, MIM: 259420<li>A->V at 483: in dbSNP:rs414408, MIM: 259420<li>G->D at 511: in OI-II, MIM: 166210<li>G->R at 517: in OI-III, MIM: 259420<li>N->S at 528: in dbSNP:rs41317144, MIM: 259420<li>G->R at 547: in OI-II, MIM: 166210<li>A->P at 549: in dbSNP:rs42524, MIM: 166210<li>G->C at 562: in OI-II, MIM: 166210<li>A->T at 564: in dbSNP:rs41317153, MIM: 166210<li>G->R at 586: in OI-II, MIM: 166210<li>G->S at 592: in OI-II, MIM: 166210<li>G->V at 634: in OI-IV, MIM: 166220<li>G->D at 637: in OI-II, MIM: 166210<li>G->S at 640: in OI-II, MIM: 166210<li>G->D at 670: in OI-II, MIM: 166210<li>Missing  at 676-855: in OI-II, MIM: 166210<li>G->V at 676: in OI-III and OI-IV, MIM: 166220<li>P->H at 678: in dbSNP:rs409108, MIM: 166220<li>R->Q at 708: in Marfan syndrome, MIM: 166220<li>G->D at 715: in OI-II, MIM: 166210<li>G->C at 730: in OI-II, MIM: 166210<li>G->C at 736: in OI-I; mild, MIM: 166200<li>A->G at 743: in dbSNP:rs408535, MIM: 166200<li>G->S at 751: in OI-IV, MIM: 166220<li>G->R at 754: in OI-II, MIM: 166210<li>G->V at 766: in OI-IV, MIM: 166220<li>G->S at 778: in OI-II, MIM: 166210<li>G->R at 784: in OI-II, MIM: 166210<li>G->C at 787: in OI-II, MIM: 166210<li>G->D at 790: in OI-II, MIM: 166210<li>G->S at 796: in OI-II, MIM: 166210<li>R->H at 822: in dbSNP:rs1800240, MIM: 166210<li>G->S at 835: in OI-I, MIM: 166200<li>G->C at 877: in OI-II, MIM: 166210<li>G->D at 892: in OI-III and OI-IV, MIM: 166220<li>G->D at 895: in OI-II, MIM: 166210<li>G->S at 949: in OI-III; moderate, MIM: 259420<li>G->S at 955: in OI-II, MIM: 166210<li>G->V at 973: in OI-III, MIM: 259420<li>G->D at 997: in OI-II, MIM: 166210<li>G->S at 1012: in OI-IV; moderate, MIM: 166220<li>L->F at 1022: in dbSNP:rs392609, MIM: 166220<li>G->D at 1066: in OI-II, MIM: 166210<li>G->C at 1078: in OI-II, MIM: 166210<li>G->A at 1096: in OI-III, MIM: 259420<li>P->L at 1101, MIM: 259420<li>G->R at 1102: in OI-IV, MIM: 166220<li>T->P at 1148: in OI-III; dbSNP:rs1800250, MIM: 259420<li>D->E at 1189: in dbSNP:rs422361, MIM: 259420<li>S->P at 1198: in dbSNP:rs384487, MIM: 259420<li>Q->H at 1354: in dbSNP:rs418570, MIM: 259420</ul>								<li>Osteogenesis imperfecta type I (OI-I) [MIM:166200]</li><li>Osteogenesis imperfecta type II (OI-II) [MIM:166210]</li><li>Osteogenesis imperfecta type IV (OI-IV) [MIM:166220]</li><li>Osteogenesis imperfecta type III (OI-III) [MIM:259420]</li>	<li>rs1800221</li><li>rs1800231</li><li>rs368468</li><li>rs384487</li><li>rs41317144</li><li>rs41317153</li><li>rs392609</li><li>rs1800240</li><li>rs1800250</li><li>rs414408</li><li>rs409108</li><li>rs42524</li><li>rs408535</li><li>rs1800228</li><li>rs418570</li><li>rs422361</li>	2
P08134	389	<ul><li>D->H at 120: in dbSNP:rs11538959</ul>									rs11538959	2
P08138	4804	<ul><li>S->L at 205: in dbSNP:rs2072446</ul>									rs2072446	2
P08151	2735	<ul><li>P->A at 210: in a breast cancer sample; somatic mutation<li>T->I at 514: in a breast cancer sample; somatic mutation<li>E->Q at 817: in a breast cancer sample; somatic mutation<li>D->A at 884<li>G->D at 933: in dbSNP:rs2228224<li>G->V at 1012: in dbSNP:rs2229300<li>E->Q at 1100: in dbSNP:rs2228226</ul>									<li>rs2228226</li><li>rs2228224</li><li>rs2229300</li>	2
P08174	1604	<ul><li>R->L at 52: in Tc: in dbSNP rsrs28371588<li>R->P at 52: in Tc<li>L->R at 82: in WES<li>S->L at 199: in Dr: in dbSNP rsrs56283594<li>A->P at 227: in Cr: in dbSNP rsrs60822373<li>R->H at 240: in GUTI</ul>									<li>rs60822373</li><li>rs56283594</li><li>rs28371588</li>	2
P08183	5243	<ul><li>F->L at 17: in dbSNP rsrs28381804<li>N->D at 21: in dbSNP:rs1805053<li>F->L at 103: rare polymorphism<li>E->K at 108<li>G->V at 185: in a colchicine-selected multidrug-resistant cell line; confers increased resistance to colchicine: in dbSNP rsrs1128501<li>S->N at 400: in dbSNP rsrs2229109<li>E->K at 566: in dbSNP rsrs28381902<li>R->C at 593: in dbSNP rsrs28381914<li>I->V at 836: in dbSNP rsrs28381967<li>K->N at 887: in a colorectal cancer sample; somatic mutation<li>A->S at 893: in dbSNP:rs2032582<li>A->T at 893: in dbSNP:rs2032582<li>M->V at 986<li>A->T at 999<li>P->A at 1051: in dbSNP rsrs28401798<li>Q->P at 1107: in dbSNP rsrs55852620<li>S->T at 1141: in dbSNP rsrs2229107<li>V->I at 1251: in dbSNP rsrs28364274</ul>									<li>rs28381804</li><li>rs28381967</li><li>rs55852620</li><li>rs28364274</li><li>rs28401798</li><li>rs2229109</li><li>rs2229107</li><li>rs2032582</li><li>rs28381902</li><li>rs1805053</li><li>rs1128501</li><li>rs28381914</li>	2
P08185	866	<ul><li>L->H at 115: in CBG deficiency; Leuven; decreased cortisol-binding affinity; dbSNP:rs28929488, MIM: 611489<li>S->A at 246: in dbSNP:rs2228541, MIM: 611489<li>D->N at 389: in CBG deficiency; Lyon; decreased cortisol-binding affinity: in dbSNP rsrs28929488, MIM: 611489</ul>			binding	GO:0005488			<li>Q60543</li><li>P23775</li><li>Q9H227</li><li>P08185</li><li>P50451</li><li>P49920</li><li>Q5RF65</li><li>Q06770</li><li>P31211</li><li>Q5R9E3</li>	Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	<li>rs2228541</li><li>rs28929488</li>	2
P08217	63036	<ul><li>N->S at 257: in dbSNP:rs2303193</ul>									rs2303193	2
P08218		<ul><li>G->R at 79: in dbSNP:rs3820071<li>D->N at 114: in dbSNP:rs3766160<li>Q->R at 177: in dbSNP:rs6429745<li>G->S at 235: in dbSNP:rs3737703</ul>									<li>rs3820071</li><li>rs3737703</li><li>rs6429745</li><li>rs3766160</li>	2
P08235	4306	<ul><li>H->Q at 7: in a colorectal cancer sample; somatic mutation<li>I->V at 180: high frequency in healthy individuals; found in a patient with sporadic pseudohypoaldosteronism type I; increases transcription transactivation at low aldosterone concentrations; dbSNP:rs5522<li>A->V at 241: high frequency in healthy individuals; found in a patient with sporadic pseudohypoaldosteronism type I; reduces transcription transactivation upon aldosterone binding<li>N->T at 444: in dbSNP:rs5523<li>R->Q at 537: in dbSNP:rs5526<li>N->S at 554: in dbSNP:rs5527<li>G->R at 633: in PHA1; reduces transcription transactivation upon aldosterone binding, MIM: 177735<li>C->S at 645: in PHA1, MIM: 177735<li>R->S at 659: in PHA1, MIM: 177735<li>P->S at 759: in PHA1, MIM: 177735<li>L->P at 769: in PHA1, MIM: 177735<li>N->K at 770: in PHA1, MIM: 177735<li>Q->R at 776: in PHA1; reduces aldosterone binding, MIM: 177735<li>S->P at 805: in PHA1, MIM: 177735<li>S->L at 810: in early onset hypertension; alters receptor specificity and leads to constitutive activation: in dbSNP rsrs41511344, MIM: 177735<li>S->R at 815: in PHA1, MIM: 177735<li>S->L at 818: in PHA1; abolishes translocation to the nucleus and transcription transactivation upon aldosterone binding, MIM: 177735<li>F->Y at 826: in dbSNP:rs13306592, MIM: 177735<li>L->P at 924: in PHA1; abolishes transcription transactivation upon aldosterone binding, MIM: 177735<li>E->G at 972: in PHA1; reduces affinity for aldosterone and transcription transactivation, MIM: 177735<li>L->P at 979: in PHA1; loss of aldosterone binding and transcription transactivation, MIM: 177735</ul>	transcription	GO:0006350	binding	GO:0005488	nucleus	GO:0005634		Autosomal dominant pseudohypoaldosteronism type I (PHA1) [MIM:177735]	<li>rs5526</li><li>rs5527</li><li>rs5522</li><li>rs5523</li><li>rs41511344</li><li>rs13306592</li>	2
P08236	2990	<ul><li>C->G at 38: in MPS7; very mild phenotype, MIM: 253220<li>S->F at 52: in MPS7; loss of activity, MIM: 253220<li>G->R at 136: in MPS7, MIM: 253220<li>P->S at 148: in MPS7, MIM: 253220<li>E->K at 150: in MPS7, MIM: 253220<li>D->N at 152: reduced activity levels without apparent pathogenic consequences, MIM: 253220<li>L->F at 176: in MPS7, MIM: 253220<li>R->W at 216: in MPS7, MIM: 253220<li>Y->C at 320: in MPS7, MIM: 253220<li>Y->S at 320: in MPS7, MIM: 253220<li>K->N at 350: in MPS7, MIM: 253220<li>H->Y at 351: in MPS7, MIM: 253220<li>A->V at 354: in MPS7, MIM: 253220<li>R->C at 374: in MPS7, MIM: 253220<li>R->C at 382: in MPS7, MIM: 253220<li>R->H at 382: in MPS7, MIM: 253220<li>P->S at 408: in MPS7, MIM: 253220<li>P->L at 415: in MPS7, MIM: 253220<li>R->P at 435: in MPS7, MIM: 253220<li>R->W at 477: in MPS7, MIM: 253220<li>Y->C at 495: in MPS7, MIM: 253220<li>Y->C at 508: in MPS7, MIM: 253220<li>G->D at 572: in MPS7, MIM: 253220<li>R->L at 577: in MPS7; loss of activity, MIM: 253220<li>K->N at 606: in MPS7, MIM: 253220<li>R->W at 611: in MPS7, MIM: 253220<li>A->V at 619: in MPS7, MIM: 253220<li>Y->H at 626: in MPS7; very mild phenotype, MIM: 253220<li>W->C at 627: in MPS7, MIM: 253220<li>L->P at 649: in dbSNP:rs9530, MIM: 253220</ul>								Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	rs9530	2
P08237	5213	<ul><li>R->L at 39: in GSD7; Ashkenazi, MIM: 232800<li>R->P at 39: in GSD7; Italian, MIM: 232800<li>R->Q at 100: in GSD7; Swiss; dbSNP:rs2228500, MIM: 232800<li>G->D at 209: in GSD7; French Canadian, MIM: 232800<li>D->A at 543: in GSD7; Italian, MIM: 232800<li>W->C at 686: in GSD7; Japanese, MIM: 232800<li>R->H at 696: in GSD7; Swiss; dbSNP:rs41291971, MIM: 232800</ul>								Glycogen storage disease type 7 (GSD7) [MIM:232800]	<li>rs41291971</li><li>rs2228500</li>	2
P08238	3326	<ul><li>K->E at 349: in dbSNP:rs11538975</ul>									rs11538975	2
P08243	440	<ul><li>V->E at 210: in dbSNP:rs1049674</ul>									rs1049674	2
P08246	1991	<ul><li>G->V at 32: in CH, MIM: 162800<li>C->Y at 55: in GFI1, MIM: 162800<li>A->T at 57: in GFI1, MIM: 162800<li>I->T at 60: in GFI1, MIM: 162800<li>C->R at 71: in GFI1: in dbSNP rsrs28931611, MIM: 162800<li>C->S at 71: in GFI1, MIM: 162800<li>G->E at 85: in GFI1, MIM: 162800<li>V->L at 98: in GFI1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity, MIM: 162800<li>V->L at 101: in GFI1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity, MIM: 162800<li>V->M at 101: in GFI1: in dbSNP rsrs28929494, MIM: 162800<li>L->PQL at 123: in GFI1, MIM: 162800<li>S->L at 126: in GFI1, MIM: 162800<li>P->L at 139: in GFI1: in dbSNP rsrs28929493, MIM: 162800<li>C->S at 151: in GFI1, MIM: 162800<li>V->F at 177: in CH, MIM: 162800<li>Missing  at 190-199: in GFI1, MIM: 162800<li>R->Q at 191: in CH; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage, MIM: 162800<li>P->R at 205: in GFI1, MIM: 162800<li>G->V at 210: in GFI1, MIM: 162800<li>G->R at 214: in GFI1, MIM: 162800<li>V->I at 219: in dbSNP:rs17216656, MIM: 162800<li>P->L at 257: in dbSNP:rs17216663, MIM: 162800<li>P->L at 262: in dbSNP:rs17216670, MIM: 162800</ul>							<li>Q04721</li><li>Q99684</li><li>Q5DWN0</li>	Cyclic haematopoiesis (CH) [MIM:162800]	<li>rs17216670</li><li>rs28929493</li><li>rs28929494</li><li>rs17216656</li><li>rs17216663</li><li>rs28931611</li>	2
P08253	4313	<ul><li>R->H at 101: in Torg-Winchester syndrome, MIM: 605156<li>D->Y at 210, MIM: 605156<li>A->T at 228: in a colorectal cancer sample; somatic mutation, MIM: 605156<li>Missing  at 400: in Torg-Winchester syndrome, MIM: 605156<li>E->K at 404: in Torg-Winchester syndrome, MIM: 277950<li>A->V at 447: in dbSNP:rs17859943, MIM: 277950<li>T->M at 498: in a colorectal cancer sample; somatic mutation, MIM: 277950<li>V->L at 621: in dbSNP:rs16955280, MIM: 277950<li>S->I at 644: in a colorectal cancer sample; somatic mutation, MIM: 277950</ul>								<li>Winchester syndrome [MIM:277950]</li><li>Multicentric osteolysis nodulosis and arthropathy (MONA) [MIM:605156]</li>	<li>rs17859943</li><li>rs16955280</li>	2
P08254	4314	<ul><li>K->E at 45: in dbSNP:rs679620</ul>									rs679620	2
P08263	2938	<ul><li>T->I at 19: in dbSNP:rs1051578<li>P->Q at 113: in dbSNP:rs1051745<li>K->Q at 117: in dbSNP:rs1051757</ul>									<li>rs1051745</li><li>rs1051757</li><li>rs1051578</li>	2
P08294	6649	<ul><li>A->T at 58: in dbSNP:rs2536512<li>A->T at 91: in dbSNP:rs17879876<li>R->G at 231: in dbSNP:rs1799895</ul>									<li>rs2536512</li><li>rs1799895</li><li>rs17879876</li>	2
P08311	1511	<ul><li>N->S at 125: in dbSNP rsrs45567233</ul>									rs45567233	2
P08319	127	<ul><li>V->I at 309: in dbSNP rsrs1126671<li>R->H at 318: in dbSNP rsrs29001219<li>I->V at 374: in dbSNP rsrs1126673</ul>									<li>rs1126673</li><li>rs1126671</li><li>rs29001219</li>	2
P08397	3145	<ul><li>M->I at 18: in AIP, MIM: 176000<li>R->C at 22: in AIP, MIM: 176000<li>G->S at 24: in AIP, MIM: 176000<li>R->C at 26: in AIP, MIM: 176000<li>R->H at 26: in AIP, MIM: 176000<li>S->N at 28: in AIP, MIM: 176000<li>A->P at 31: in AIP, MIM: 176000<li>A->T at 31: in AIP, MIM: 176000<li>Q->K at 34: in AIP, MIM: 176000<li>Q->P at 34: in AIP; less than 3% of activity, MIM: 176000<li>Q->R at 34: in AIP, MIM: 176000<li>T->M at 35: in AIP, MIM: 176000<li>L->S at 42: in AIP, MIM: 176000<li>A->S at 55: in AIP, MIM: 176000<li>D->N at 61: in AIP, MIM: 176000<li>D->Y at 61: in AIP, MIM: 176000<li>T->P at 78: in AIP, MIM: 176000<li>E->G at 80: in AIP, MIM: 176000<li>L->P at 81: in AIP, MIM: 176000<li>L->R at 85: in AIP, MIM: 176000<li>E->V at 86: in AIP, MIM: 176000<li>V->G at 90: in AIP, MIM: 176000<li>L->P at 92: in AIP, MIM: 176000<li>V->F at 93: in AIP; loss of activity, MIM: 176000<li>Missing  at 93: in AIP, MIM: 176000<li>S->F at 96: in AIP, MIM: 176000<li>K->R at 98: in AIP, MIM: 176000<li>D->G at 99: in AIP, MIM: 176000<li>D->H at 99: in AIP, MIM: 176000<li>D->N at 99: in AIP, MIM: 176000<li>G->R at 111: in AIP, MIM: 176000<li>I->T at 113: in AIP, MIM: 176000<li>R->Q at 116: in AIP, MIM: 176000<li>R->W at 116: in AIP; loss of activity, MIM: 176000<li>P->L at 119: in AIP, MIM: 176000<li>A->G at 122: in AIP, MIM: 176000<li>V->D at 124: in AIP, MIM: 176000<li>R->L at 149: in AIP, MIM: 176000<li>R->Q at 149: in AIP, MIM: 176000<li>Missing  at 152: in AIP, MIM: 176000<li>R->Q at 167: in AIP, MIM: 176000<li>R->W at 167: in AIP, MIM: 176000<li>R->Q at 173: in AIP; 0.6% of wild-type activity, MIM: 176000<li>R->W at 173: in AIP, MIM: 176000<li>L->R at 177: in AIP, MIM: 176000<li>D->N at 178: in AIP, MIM: 176000<li>R->C at 195: in AIP: in dbSNP rsrs34413634, MIM: 176000<li>R->W at 201: in AIP; residual activity, MIM: 176000<li>V->L at 202: in AIP, MIM: 176000<li>E->K at 209: in AIP, MIM: 176000<li>M->V at 212: in AIP; <2% residual activity, MIM: 176000<li>G->D at 216: in AIP, MIM: 176000<li>Q->H at 217: in AIP, MIM: 176000<li>Q->L at 217: in AIP, MIM: 176000<li>A->D at 219: in AIP, MIM: 176000<li>V->M at 222: in AIP, MIM: 176000<li>E->K at 223: in AIP, MIM: 176000<li>R->G at 225: in AIP, MIM: 176000<li>R->Q at 225: in AIP, MIM: 176000<li>G->S at 236: in AIP, MIM: 176000<li>L->R at 238: in AIP, MIM: 176000<li>L->P at 244: in AIP, MIM: 176000<li>L->R at 245: in AIP, MIM: 176000<li>C->F at 247: in AIP; residual activity, MIM: 176000<li>C->R at 247: in AIP, MIM: 176000<li>I->IETLLRCI at 248: in AIP, MIM: 176000<li>E->A at 250: in AIP, MIM: 176000<li>E->K at 250: in AIP, MIM: 176000<li>E->Q at 250: in AIP, MIM: 176000<li>E->V at 250: in AIP, MIM: 176000<li>A->T at 252: in AIP, MIM: 176000<li>A->V at 252: in AIP, MIM: 176000<li>L->P at 254: in AIP, MIM: 176000<li>H->N at 256: in AIP, MIM: 176000<li>H->Y at 256: in AIP, MIM: 176000<li>G->D at 260: in AIP, MIM: 176000<li>C->Y at 261: in AIP, MIM: 176000<li>V->M at 267: in AIP, MIM: 176000<li>T->I at 269: in AIP, MIM: 176000<li>A->D at 270: in AIP, MIM: 176000<li>A->G at 270: in AIP, MIM: 176000<li>G->R at 274: in AIP, MIM: 176000<li>L->P at 278: in AIP, MIM: 176000<li>G->R at 280: in AIP, MIM: 176000<li>Missing  at 281: in AIP, MIM: 176000<li>Missing  at 329-332: in AIP, MIM: 176000<li>G->D at 335: in AIP, MIM: 176000<li>G->S at 335: in AIP; less than 3% of activity, MIM: 176000<li>L->P at 343: in AIP, MIM: 176000</ul>							<li>O00170</li><li>Q9NWT8</li><li>Q7YRC1</li><li>O08915</li><li>O97628</li>	Acute intermittent porphyria (AIP) [MIM:176000]	rs34413634	2
P08476	3624	<ul><li>Q->P at 299: in dbSNP:rs41294833</ul>									rs41294833	2
P08493	4256	<ul><li>K->E at 53: in dbSNP:rs1801716<li>T->A at 102: in dbSNP:rs4236</ul>									<li>rs4236</li><li>rs1801716</li>	2
P08514	3674	<ul><li>T->I at 40: in dbSNP:rs5915<li>L->P at 86: in GT; cells co-transfected with mutated alpha-IIb and wild-type beta-3 scarcely expressed the alpha-IIb/beta-3 complex, MIM: 273800<li>A->V at 139: in GT, MIM: 273800<li>C->W at 161: in GT, MIM: 273800<li>Y->H at 174: in GT; abolishes the binding function of alpha-IIb/beta-3 for soluble ligands without disturbing alpha-IIb/beta-3 expression; functional defect is likely caused by its allosteric effect rather than by a defect in the ligand-binding site itself, MIM: 273800<li>P->A at 176: in GT; impairs surface expression of alpha-IIb/beta-3 and abrogates ligand binding to the activated integrin, MIM: 273800<li>P->L at 176: in GT; impairs surface expression of alpha-IIb/beta-3, MIM: 273800<li>F->C at 202: in GT; associated with abrogation of alpha-IIb/beta-3 complex formation, MIM: 273800<li>T->I at 207: in GT, MIM: 273800<li>L->P at 214: in GT; disrupts the structural conformation and the ligand binding properties of the heterodimeric complex; in addition the mutation appears to confer susceptibility to proteolysis, MIM: 273800<li>F->L at 222: in GT, MIM: 273800<li>G->E at 267: in GT, MIM: 273800<li>G->D at 273: in GT; alters the heterodimer conformation thus impairing their intracellular transport, MIM: 273800<li>G->A at 313: in dbSNP:rs1126554, MIM: 273800<li>F->S at 320: in GT; type I; impairs surface expression of alpha-IIb/beta-3, MIM: 273800<li>V->F at 329: in GT; expression of mutant subunit alpha-IIb/bet-3 is 28% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum, MIM: 273800<li>E->K at 355: in GT; type I; impairs surface expression of alpha-IIb/beta-3, MIM: 273800<li>R->H at 358: in GT; type II, MIM: 273800<li>G->D at 380: in GT, MIM: 273800<li>I->T at 405: in GT; expression of mutant subunit alpha-IIb/bet-3 is 11% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum, MIM: 273800<li>G->R at 412: in GT, MIM: 273800<li>G->D at 449: in GT; type I, MIM: 273800<li>Missing  at 456-457: in GT; alteres the conformation of heterodimers such that they were neither recognized by the heterodimer-specific antibody A2A9 nor able to undergo further intracellular processing or transport to the cell surface, MIM: 273800<li>A->D at 581: in GT, MIM: 273800<li>I->T at 596: in GT; type I, MIM: 273800<li>V->L at 649: in dbSNP:rs7207402, MIM: 273800<li>C->R at 705: in GT; type II; the rate of subunit maturation and the surface exposure of ghlycoprotein IIb/beta-3 are strongly reduced, MIM: 273800<li>L->V at 752: in GT, MIM: 273800<li>R->P at 755: in GT, MIM: 273800<li>Q->P at 778: in GT; type II, MIM: 273800<li>L->P at 847: in GT, MIM: 273800<li>I->S at 874: alloantigen HPA-3B; dbSNP:rs5911, MIM: 273800<li>P->L at 943: in GT; marked reduction in the rate of surface expression, MIM: 273800<li>Y->N at 968: in dbSNP:rs5914, MIM: 273800<li>V->M at 982: in GT; much reduced surface expression of alpha-IIb/beta-3 and a block in the maturation of pro-alpha-IIb, MIM: 273800<li>A->T at 989, MIM: 273800<li>R->Q at 1026: in GT, MIM: 273800</ul>	<li>transport</li><li>intracellular transport</li>	<li>GO:0006810</li><li>GO:0046907</li>	binding	GO:0005488	<li>intracellular</li><li>endoplasmic reticulum</li><li>cell surface</li>	<li>GO:0005622</li><li>GO:0005783</li><li>GO:0009928,GO:0009986</li>	<li>O82030</li><li>Q9FEW2</li><li>Q9Y251</li><li>Q90YK5</li>	Glanzmann thrombasthenia (GT) [MIM:273800]	<li>rs5911</li><li>rs7207402</li><li>rs5915</li><li>rs5914</li><li>rs1126554</li>	2
P08519		<ul><li>R->Q at 3498: in dbSNP:rs41259144<li>L->V at 3866: in dbSNP:rs7765803<li>L->V at 3880: in dbSNP:rs7765781<li>T->P at 3907: in dbSNP:rs41272110<li>R->Q at 3929: in dbSNP:rs41272112<li>M->T at 4106: in dbSNP:rs41264308<li>M->T at 4187: in dbSNP:rs1801693<li>W->R at 4193: loss of lysine-sepharose binding<li>G->A at 4330: in dbSNP:rs41265936<li>I->M at 4399: in dbSNP:rs3798220<li>R->C at 4524: in dbSNP:rs3124784</ul>			binding	GO:0005488					<li>rs1801693</li><li>rs3124784</li><li>rs41259144</li><li>rs41264308</li><li>rs41272110</li><li>rs41265936</li><li>rs41272112</li><li>rs7765781</li><li>rs7765803</li><li>rs3798220</li>	2
P08559	5160	<ul><li>R->P at 10: in PDHE1 deficiency; affects mitochondrial import of precursor protein, MIM: 312170<li>R->C at 72: in PDHE1 deficiency, MIM: 312170<li>H->D at 113: in PDHE1 deficiency, MIM: 312170<li>G->R at 162: in PDHE1 deficiency, MIM: 312170<li>V->M at 167: in PDHE1 deficiency, MIM: 312170<li>A->T at 199: in PDHE1 deficiency, MIM: 312170<li>F->L at 205: in LS; PDHE1 deficiency, MIM: 308930<li>M->V at 210: in PDHE1 deficiency, MIM: 312170<li>P->L at 217: in PDHE1 deficiency, MIM: 312170<li>T->A at 231: in PDHE1 deficiency, MIM: 312170<li>Y->N at 243: in PDHE1 deficiency, MIM: 312170<li>D->A at 258: in LS; PDHE1 deficiency, MIM: 308930<li>R->G at 263: in PDHE1 deficiency and LS: in dbSNP rsrs28936081, MIM: 308930<li>R->Q at 263: in PDHE1 deficiency, MIM: 312170<li>M->L at 282: in dbSNP:rs2229137, MIM: 312170<li>R->H at 288: in PDHE1 deficiency, MIM: 312170<li>H->L at 292: in PDHE1 deficiency, MIM: 312170<li>R->C at 302: in PDHE1 deficiency; loss of activity; common mutation, MIM: 312170<li>R->H at 302: in PDHE1 deficiency, MIM: 312170<li>E->EDSYRTRE at 305: in PDHE1 deficiency, MIM: 312170<li>I->IPPHSYRTREEI at 307: in PDHE1 deficiency, MIM: 312170<li>Missing  at 311: in PDHE1 deficiency, MIM: 312170<li>Missing  at 313: in PDHE1 deficiency, MIM: 312170<li>D->N at 315: in PDHE1 deficiency: in dbSNP rsrs28935187, MIM: 312170<li>E->D at 333: in dbSNP:rs2228067, MIM: 312170<li>R->H at 378: in LS; PDHE1 deficiency, MIM: 308930</ul>								<li>Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]</li><li>X-linked Leigh syndrome (LS) [MIM:308930]</li>	<li>rs28935187</li><li>rs28936081</li><li>rs2228067</li><li>rs2229137</li>	2
P08567	5341	<ul><li>R->W at 5: in dbSNP:rs17035364<li>W->R at 92<li>K->N at 97: in dbSNP:rs3816281<li>K->R at 340: in dbSNP:rs1063479</ul>									<li>rs17035364</li><li>rs1063479</li><li>rs3816281</li>	2
P08571	929	<ul><li>N->D at 204: in dbSNP:rs2228049<li>E->K at 341: in dbSNP:rs11556179</ul>									<li>rs11556179</li><li>rs2228049</li>	2
P08572	1284	<ul><li>R->K at 517: in dbSNP:rs7990383<li>G->A at 683: in dbSNP:rs3803230<li>P->S at 718: in dbSNP:rs9583500</ul>									<li>rs9583500</li><li>rs3803230</li><li>rs7990383</li>	2
P08574	1537	<ul><li>V->M at 76: in dbSNP:rs7820984<li>L->V at 89</ul>									rs7820984	2
P08575	5788	<ul><li>T->A at 191: in dbSNP:rs4915154<li>E->A at 228: in a breast cancer sample; somatic mutation<li>I->L at 294: in dbSNP:rs2230606<li>Missing  at 362-363: in T<li>T->I at 421: in dbSNP:rs6696162<li>H->Q at 568: in dbSNP:rs12136658<li>G->R at 863: in a breast cancer sample; somatic mutation<li>S->R at 1283: in dbSNP:rs2298872</ul>									<li>rs4915154</li><li>rs6696162</li><li>rs2230606</li><li>rs2298872</li><li>rs12136658</li>	2
P08579	6629	<ul><li>K->Q at 19: in a colorectal cancer sample; somatic mutation</ul>										2
P08581	4233	<ul><li>R->Q at 143: in dbSNP rsrs35469582<li>S->L at 156: in dbSNP rsrs56311081<li>E->D at 168: in dbSNP rsrs55985569<li>L->S at 238: in dbSNP:rs34349517<li>I->M at 316: in dbSNP:rs35225896<li>A->V at 320: in dbSNP:rs35776110<li>N->S at 375: in dbSNP:rs33917957<li>P->L at 773: in gastric cancer<li>R->C at 970: in dbSNP:rs34589476<li>P->S at 991: in gastric cancer; prolonged tyrosine phosphorylation in response to HGF/SF; transforming activity in athymic nude mice<li>T->I at 992: low transforming activity in athymic nude mice: in dbSNP rsrs56391007<li>V->I at 1092: in HPRC; constitutive autophosphorylation, MIM: 605074<li>H->L at 1094: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074<li>H->R at 1094: in HPRC; causes malignant transformation in cell lines, MIM: 605074<li>H->Y at 1094: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074<li>H->D at 1106: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074<li>M->T at 1131: in HPRC; germline mutation: in dbSNP rsrs28933101, MIM: 605074<li>T->I at 1173: in HCC, MIM: 114550<li>V->L at 1188: in HPRC; germline mutation: in dbSNP rsrs28932775, MIM: 605074<li>L->V at 1195: in HPRC; somatic mutation: in dbSNP rsrs28932778, MIM: 605074<li>V->I at 1220: in HPRC; germline mutation: in dbSNP rsrs28932776, MIM: 605074<li>D->H at 1228: in HPRC; somatic mutation, MIM: 605074<li>D->N at 1228: in HPRC; germline mutation: in dbSNP rsrs28932777, MIM: 605074<li>Y->C at 1230: in HPRC; germline mutation, MIM: 605074<li>Y->D at 1230: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074<li>Y->H at 1230: in HPRC; somatic mutation, MIM: 605074<li>K->R at 1244: in HCC, MIM: 114550<li>M->I at 1250: in HCC, MIM: 114550<li>M->T at 1250: in HPRC; somatic mutation, MIM: 605074</ul>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>					<li>P14210</li><li>Q8T115</li><li>Q9NFL6</li>	<li>Hepatocellular carcinoma (HCC) [MIM:114550]</li><li>Hereditary papillary renal carcinoma (HPRC) [MIM:605074]</li>	<li>rs56311081</li><li>rs33917957</li><li>rs34589476</li><li>rs35776110</li><li>rs28932778</li><li>rs28932777</li><li>rs28933101</li><li>rs28932776</li><li>rs28932775</li><li>rs34349517</li><li>rs56391007</li><li>rs35469582</li><li>rs35225896</li><li>rs55985569</li>	2
P08582	4241	<ul><li>R->W at 294: in dbSNP:rs2276790</ul>									rs2276790	2
P08588	153	<ul><li>S->G at 49: associated with high mean resting heart rate; dbSNP:rs1801252<li>R->G at 389: reduced binding to G proteins; dbSNP:rs1801253<li>R->L at 389</ul>			binding	GO:0005488					<li>rs1801253</li><li>rs1801252</li>	2
P08590	4634	<ul><li>E->G at 56: in CMH8, MIM: 608751<li>E->K at 143: in CMH8; autosomal recessive, MIM: 608751<li>M->V at 149: in MVC1, MIM: 608751<li>R->H at 154: in MVC1, MIM: 608751</ul>								<li>Cardiomyopathy hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]</li><li>Cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]</li>		2
P08603	3075	<ul><li>V->I at 62: in dbSNP:rs800292<li>R->G at 78: in HUS, MIM: 235400<li>R->L at 127: in CFH deficiency; with membranoproliferative glomerulonephritis, MIM: 609814<li>Missing  at 224: in CFH deficiency; with membranoproliferative glomerulonephritis; affects binding of factor H to C3b and shows defective complement regulation, MIM: 609814<li>Q->K at 400: in HUS, MIM: 235400<li>Y->H at 402: polymorphism associated with ARMD4; dbSNP:rs1061170, MIM: 235400<li>C->S at 431: in CFH deficiency; with membranoproliferative glomerulonephritis, MIM: 609814<li>T->R at 493: in dbSNP:rs1061171, MIM: 609814<li>C->R at 536: in CFH deficiency, MIM: 609814<li>I->T at 551: in dbSNP:rs35453854, MIM: 609814<li>R->G at 567: associated with basal laminar drusen, MIM: 609814<li>C->W at 630: in HUS; atypical, MIM: 235400<li>C->S at 673: in CFH deficiency; with membranoproliferative glomerulonephritis, MIM: 609814<li>C->Y at 673: in HUS, MIM: 235400<li>E->K at 850: in HUS; atypical, MIM: 235400<li>S->I at 890: in dbSNP:rs515299, MIM: 235400<li>H->R at 893: in HUS; also in a patient with severe renal failure, MIM: 235400<li>C->S at 915: in HUS, MIM: 235400<li>E->D at 936: polymorphism associated with HUS and basal laminar drusen; dbSNP:rs1065489, MIM: 235400<li>Q->H at 950: in HUS, MIM: 235400<li>Y->H at 951: in HUS, MIM: 235400<li>T->M at 956: in HUS; atypical, MIM: 235400<li>C->Y at 959: in CFH deficiency, MIM: 609814<li>W->C at 978: in HUS; atypical, MIM: 235400<li>V->I at 1007, MIM: 235400<li>V->L at 1007: in dbSNP:rs534399, MIM: 235400<li>T->I at 1017: in dbSNP:rs34362004, MIM: 235400<li>Y->F at 1021: in HUS; atypical, MIM: 235400<li>C->R at 1043: in HUS; atypical, MIM: 235400<li>N->Y at 1050: polymorphism associated with basal laminar drusen; dbSNP:rs35274867, MIM: 235400<li>I->T at 1059: in dbSNP:rs35343172, MIM: 235400<li>Q->E at 1076: in CFH deficiency, MIM: 609814<li>R->S at 1078: associated with basal laminar drusen, MIM: 609814<li>D->G at 1119: in CFH deficiency, MIM: 609814<li>V->G at 1134: in HUS; atypical, MIM: 235400<li>Y->D at 1142: in HUS; atypical, MIM: 235400<li>Q->E at 1143: in dbSNP:rs34247141, MIM: 235400<li>W->R at 1157: in HUS; atypical, MIM: 235400<li>C->W at 1163: in HUS, MIM: 235400<li>W->L at 1183: in HUS, MIM: 235400<li>W->R at 1183: in HUS; atypical, MIM: 235400<li>T->R at 1184: in CFH deficiency, MIM: 609814<li>L->R at 1189: in HUS; atypical; nondiarrhea-associated, MIM: 235400<li>S->L at 1191: in HUS; dbSNP:rs460897, MIM: 235400<li>G->D at 1194: in HUS, MIM: 235400<li>V->A at 1197: in HUS; atypical; dbSNP:rs460184, MIM: 235400<li>E->A at 1198: in HUS, MIM: 235400<li>F->S at 1199: in HUS, MIM: 235400<li>R->C at 1210: in CFH deficiency, MIM: 609814<li>R->G at 1215: in HUS, MIM: 235400<li>R->Q at 1215: in CFH deficiency, MIM: 609814<li>YPTCAKR->FQS at 1225-1231: in HUS, MIM: 609814<li>P->S at 1226: in HUS; atypical, MIM: 235400</ul>			binding	GO:0005488			<li>P08603</li><li>Q28085</li>	<li>Complement factor H deficiency (CFH deficiency) [MIM:609814]</li><li>Hemolytic-uremic syndrome (HUS) [MIM:235400]</li>	<li>rs35274867</li><li>rs34362004</li><li>rs460184</li><li>rs34247141</li><li>rs35453854</li><li>rs800292</li><li>rs1061170</li><li>rs1061171</li><li>rs35343172</li><li>rs515299</li><li>rs460897</li><li>rs1065489</li><li>rs534399</li>	2
P08631	3055	<ul><li>A->T at 44: in dbSNP rsrs56029200<li>M->L at 105: in dbSNP rsrs55722810<li>D->G at 399: in an ovarian mucinous carcinoma sample; somatic mutation<li>P->Q at 502: in dbSNP:rs17093828</ul>									<li>rs56029200</li><li>rs55722810</li><li>rs17093828</li>	2
P08637	2214	<ul><li>L->H at 66<li>L->R at 66<li>F->V at 157<li>F->V at 176: in dbSNP:rs396991</ul>									rs396991	2
P08648	3678	<ul><li>R->I at 585: in dbSNP:rs12318746</ul>									rs12318746	2
P08684	1576	<ul><li>L->P at 15: in allele CYP3A4*14; dbSNP:rs12721634<li>G->D at 56: in allele CYP3A4*7: in dbSNP rsrs56324128<li>K->E at 96: in dbSNP:rs3091339<li>I->V at 118: in allele CYP3A4*4: in dbSNP rsrs55951658<li>R->Q at 130: in allele CYP3A4*8<li>R->Q at 162: in allele CYP3A4*15; dbSNP:rs4986907<li>V->I at 170: in allele CYP3A4*9<li>D->H at 174: in allele CYP3A4*10<li>T->S at 185: in allele CYP3A4*16; dbSNP:rs12721627<li>F->S at 189: in allele CYP3A4*17; exhibits lower turnover numbers for testosterone and chlorpyrifos; dbSNP:rs4987161<li>P->R at 218: in allele CYP3A4*5: in dbSNP rsrs55901263<li>S->P at 222: in allele CYP3A4*2; exhibits a lower intrinsic clearance toward nifedipine: in dbSNP rsrs55785340<li>S->A at 252: in dbSNP:rs3208363<li>L->P at 293: in allele CYP3A4*18; exhibits higher turnover numbers for testosterone and chlorpyrifos; dbSNP:rs28371759<li>T->N at 349: in dbSNP:rs10250778<li>T->M at 363: in allele CYP3A4*11; unstable form<li>L->F at 373: in allele CYP3A4*12; has an altered testosterone hydroxylase activity; dbSNP:rs12721629<li>P->L at 416: in allele CYP3A4*13; lack of expression; dbSNP:rs4986909<li>I->T at 431: in dbSNP:rs1041988<li>M->T at 445: in allele CYP3A4*3; dbSNP:rs4986910<li>P->S at 467: in allele CYP3A4*19; dbSNP:rs4986913</ul>							P08684		<li>rs28371759</li><li>rs55785340</li><li>rs56324128</li><li>rs1041988</li><li>rs4986909</li><li>rs4986907</li><li>rs3208363</li><li>rs10250778</li><li>rs4986910</li><li>rs4986913</li><li>rs3091339</li><li>rs4987161</li><li>rs55951658</li><li>rs12721634</li><li>rs12721627</li><li>rs12721629</li><li>rs55901263</li>	2
P08686	1589	<ul><li>L->LL at 9: in allele CYP21A2*2<li>A->T at 15: in AH3; salt wasting form; no significant difference in activity compared with the wild-type, MIM: 201910<li>P->L at 30: in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients, MIM: 201910<li>P->Q at 30: in AH3; does not affect membrane binding; enzyme function abolished, MIM: 201910<li>H->L at 62: in AH3, MIM: 201910<li>G->E at 64: in AH3; no activity, MIM: 201910<li>G->V at 90: in AH3, MIM: 201910<li>K->R at 98, MIM: 201910<li>K->R at 102: in allele CYP21A2*3: in dbSNP rsrs6474, MIM: 201910<li>P->L at 105: in AH3, MIM: 201910<li>R->H at 124: in AH3, MIM: 201910<li>C->Y at 169: in AH3, MIM: 201910<li>I->N at 172: in AH3; simple virilizing form; 1-2% activity, MIM: 201910<li>G->A at 178: in AH3, MIM: 201910<li>D->E at 183: in allele CYP21A2*4: in dbSNP rsrs1040310, MIM: 201910<li>Missing  at 196: in AH3; moderate, MIM: 201910<li>V->L at 211: in AH3; non-classic form; pathogenicity uncertain, MIM: 201910<li>I->N at 236: in AH3; salt wasting form, MIM: 201910<li>V->E at 237: in AH3; salt wasting form: in dbSNP rsrs12530380, MIM: 201910<li>M->K at 239: in AH3; salt wasting form: in dbSNP rsrs6476, MIM: 201910<li>L->P at 261: in AH3, MIM: 201910<li>S->T at 268: in allele CYP21A2*5; dbSNP:rs6472, MIM: 201910<li>V->G at 281: in AH3; salt wasting form, MIM: 201910<li>V->L at 281: in AH3; non-classic form; 50% activity; most common variant; 59% of non-classic AH3 Texan patients; normal KM but 20% reduced Vmax; dbSNP:rs6471, MIM: 201910<li>M->L at 283: in AH3, MIM: 201910<li>G->C at 291: in AH3, MIM: 201910<li>G->R at 291: in AH3, MIM: 201910<li>G->S at 291: in AH3; salt wasting form; less then 1% activity, MIM: 201910<li>L->F at 300: in AH3; salt wasting form, MIM: 201910<li>S->Y at 301: in AH3, MIM: 201910<li>V->M at 304: in hyperandrogenism; due to 21-hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme, MIM: 201910<li>L->M at 317: in AH3, MIM: 201910<li>R->H at 339: in AH3; non-classic form; 50% activity, MIM: 201910<li>R->P at 341: in AH3, MIM: 201910<li>R->W at 341: in AH3; non-classic form; mild, MIM: 201910<li>R->C at 354: in AH3; salt wasting form, MIM: 201910<li>R->H at 354: in AH3, MIM: 201910<li>R->P at 356: in AH3; salt wasting form; 0.15% activity, MIM: 201910<li>R->Q at 356: in AH3; simple virilizing form; mild; 0.65% activity, MIM: 201910<li>R->W at 356: in AH3; salt wasting form, MIM: 201910<li>A->V at 362: in AH3; no activity, MIM: 201910<li>L->W at 363: in AH3, MIM: 201910<li>H->Y at 365: in AH3, MIM: 201910<li>G->S at 375: in hyperandrogenism; due to 21-hydroxylase deficiency; almost completely abolished enzyme activity, MIM: 201910<li>E->D at 380: in AH3; salt wasting form, MIM: 201910<li>R->C at 408: in AH3; should lead to complete impairment of enzymatic activity, MIM: 201910<li>G->S at 424: in AH3, MIM: 201910<li>R->H at 426: in AH3; exhibit only low enzyme activity toward 17-hydroxyprogesterone, MIM: 201910<li>R->C at 435: in AH3, MIM: 201910<li>P->S at 453: in AH3; non-classic form; 50% activity; 23% of non-classic AH3 Texan patients; almost completely abolished enzyme activity when associated with S-375; dbSNP:rs6445, MIM: 201910<li>R->L at 479: in AH3, MIM: 201910<li>P->S at 482: in AH3; rediced enzyme activity to 70% of normal, MIM: 201910<li>R->P at 483: in AH3; moderate; 1-2% of activity, MIM: 201910<li>R->Q at 483: in AH3, MIM: 201910<li>R->W at 483: in AH3; salt wasting form, MIM: 201910<li>N->S at 493: in AH3; could be a polymorphism; allele CYP21A2*6; dbSNP:rs6473, MIM: 201910</ul>			binding	GO:0005488	membrane	GO:0016020	P08686	Adrenal hyperplasia type 3 (AH3) [MIM:201910]	<li>rs6474</li><li>rs6476</li><li>rs1040310</li><li>rs12530380</li>	2
P08697	5345	<ul><li>A->V at 2: in dbSNP:rs2070862<li>A->V at 27<li>R->W at 33: in dbSNP:rs2070863<li>A->G at 98: in dbSNP:rs36021516<li>Missing  at 176: in APLID; variant Okinawa; probably blocks intracellular transport of alpha-2-plasmin inhibitor<li>V->M at 411: in APLID, MIM: 262850<li>R->K at 434: in dbSNP:rs1057335, MIM: 262850</ul>	intracellular transport	GO:0046907					<li>P28800</li><li>Q61247</li><li>P08697</li><li>P83168</li>	Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	<li>rs36021516</li><li>rs1057335</li><li>rs2070862</li><li>rs2070863</li>	2
P08700	3562	<ul><li>R->C at 3: in dbSNP:rs35415145<li>R->H at 15: in dbSNP:rs2069787<li>P->S at 27: in dbSNP:rs40401<li>N->S at 60: in dbSNP:rs35482671</ul>									<li>rs40401</li><li>rs35482671</li><li>rs2069787</li><li>rs35415145</li>	2
P08708	6218	<ul><li>E->K at 36: in dbSNP:rs1043734</ul>									rs1043734	2
P08709	2155	<ul><li>L->P at 13: in Morioka; FVII deficiency<li>F->L at 64: in FVII deficiency<li>L->Q at 73: in FVII deficiency: in dbSNP rsrs45572939<li>E->Q at 79: in FVII deficiency<li>S->P at 120: in FVII deficiency<li>C->F at 121: in FVII deficiency<li>L->P at 125: in FVII deficiency<li>Y->C at 128: in FVII deficiency<li>R->K at 139: in FVII deficiency<li>R->Q at 139: in Charlotte; FVII deficiency<li>R->W at 139: in FVII deficiency<li>C->S at 151: in FVII deficiency<li>E->K at 154: in FVII deficiency<li>G->C at 157: in FVII deficiency<li>G->S at 157: in FVII deficiency<li>G->V at 157: in FVII deficiency<li>Q->R at 160: in FVII deficiency<li>P->T at 194: in Malta-I; FVII deficiency<li>C->R at 195: in FVII deficiency<li>K->E at 197: in FVII deficiency<li>R->Q at 212: in Charlotte; FVII deficiency<li>G->D at 216: in FVII deficiency<li>C->Y at 238: in FVII deficiency<li>T->N at 241: in FVII deficiency<li>C->Y at 254: in FVII deficiency<li>A->T at 266: in FVII deficiency<li>R->W at 283: in FVII deficiency<li>V->D at 295: in dbSNP:rs6045<li>D->H at 302: in FVII deficiency<li>D->N at 302: in FVII deficiency<li>A->T at 304: in FVII deficiency<li>A->V at 304: in Malta-II; FVII deficiency<li>R->C at 307: in FVII deficiency<li>R->H at 307: in Mie; FVII deficiency<li>V->M at 312: in FVII deficiency<li>E->K at 325: in FVII deficiency<li>T->M at 332: in FVII deficiency<li>V->F at 341: in FVII deficiency<li>A->T at 352: in dbSNP:rs3093267<li>A->V at 354: in FVII deficiency: in dbSNP rsrs36209567<li>M->I at 358: in FVII deficiency<li>M->V at 358: in FVII deficiency<li>P->R at 363: in FVII deficiency<li>R->Q at 364: in Harrow/Padua; FVII deficiency<li>T->S at 367<li>C->F at 370: in FVII deficiency<li>C->G at 389: in FVII deficiency<li>G->S at 391: in FVII deficiency<li>G->E at 402: in FVII deficiency<li>G->R at 402: in FVII deficiency<li>D->H at 403: in FVII deficiency<li>R->Q at 413: in allele Q; dbSNP:rs6046<li>T->M at 419: in FVII deficiency<li>G->E at 435: in FVII deficiency<li>E->K at 445: in dbSNP:rs3093248</ul>									<li>rs6046</li><li>rs6045</li><li>rs3093267</li><li>rs3093248</li><li>rs36209567</li><li>rs45572939</li>	2
P08727	3880	<ul><li>G->A at 60: in dbSNP:rs4602</ul>									rs4602	2
P08729	3855	<ul><li>A->G at 364: in dbSNP rsrs2608009</ul>									rs2608009	2
P08779	3868	<ul><li>Missing  at 104-107: in UPVN; somatic mutation<li>M->T at 121: in PC1; dbSNP:rs28928894, MIM: 167200<li>Q->P at 122: in PC1: in dbSNP rsrs59349773, MIM: 167200<li>L->R at 124: in PC1: in dbSNP rsrs58293603, MIM: 167200<li>N->S at 125: in NEPPK: in dbSNP rsrs60723330, MIM: 600962<li>R->C at 127: in NEPPK: in dbSNP rsrs59856285, MIM: 600962<li>R->P at 127: in PC1: in dbSNP rsrs57424749, MIM: 167200<li>L->Q at 128: in PC1; dbSNP:rs28928895, MIM: 167200<li>Missing  at 130: in PC1, MIM: 167200<li>L->P at 132: in PC1: in dbSNP rsrs60944949, MIM: 167200<li>K->N at 354: in PC1; late onset: in dbSNP rsrs59328451, MIM: 167200</ul>							<li>P22413</li><li>P28840</li><li>P63239</li><li>Q9GLR1</li><li>P63240</li><li>P29120</li>	<li>Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]</li><li>Pachyonychia congenita type 1 (PC1) [MIM:167200]</li>	<li>rs59349773</li><li>rs28928894</li><li>rs28928895</li><li>rs59856285</li><li>rs59328451</li><li>rs60723330</li><li>rs57424749</li><li>rs58293603</li><li>rs60944949</li>	2
P08833	3484	<ul><li>H->D at 114: in dbSNP:rs41258845<li>V->I at 183: in dbSNP:rs1065782<li>I->M at 253: in dbSNP:rs4619</ul>									<li>rs4619</li><li>rs41258845</li><li>rs1065782</li>	2
P08842	412	<ul><li>S->L at 341: in IXL; loss of activity, MIM: 308100<li>W->R at 372: in IXL; loss of activity, MIM: 308100<li>W->S at 372: in IXL; loss of activity, MIM: 308100<li>G->R at 380: in IXL, MIM: 308100<li>H->R at 444: in IXL; loss of activity, MIM: 308100<li>C->Y at 446: in IXL; loss of activity, MIM: 308100<li>Q->P at 560: in IXL, MIM: 308100</ul>								Ichthyosis X-linked (IXL) [MIM:308100]		2
P08861	23436	<ul><li>W->R at 79: in dbSNP:rs7528405</ul>									rs7528405	2
P08865	3921	<ul><li>R->W at 117: in dbSNP:rs17856150</ul>									rs17856150	2
P08887	3570	<ul><li>D->A at 358: in dbSNP:rs2228145<li>V->I at 385: in dbSNP:rs28730736</ul>									<li>rs28730736</li><li>rs2228145</li>	2
P08908	3350	<ul><li>P->L at 16: in dbSNP:rs1800041<li>G->S at 22: in dbSNP:rs1799920<li>I->V at 28: in dbSNP:rs1799921<li>P->L at 184: in dbSNP:rs1800043<li>R->L at 220: in dbSNP:rs1800044<li>G->D at 273: in dbSNP:rs1800042</ul>									<li>rs1800044</li><li>rs1800043</li><li>rs1799920</li><li>rs1800042</li><li>rs1799921</li><li>rs1800041</li>	2
P08910	11057	<ul><li>R->Q at 253: in dbSNP:rs17851730</ul>									rs17851730	2
P08913	150	<ul><li>N->K at 251: rare polymorphism; frequency in Caucasians 0.004 and in African-Americans 0.05; 40% increase in agonist-promoted Gi coupling; dbSNP:rs1800035</ul>									rs1800035	2
P08922	6098	<ul><li>N->S at 13: in dbSNP rsrs45606237<li>G->V at 126: in dbSNP rsrs34245787<li>T->P at 145: in dbSNP:rs1998206<li>R->Q at 167: in dbSNP:rs2243380<li>P->S at 224: in dbSNP rsrs55959124<li>Y->C at 338: in dbSNP rsrs55707658<li>S->P at 370: in dbSNP rsrs56274823<li>Y->H at 419: in a gastric adenocarcinoma sample; somatic mutation<li>I->M at 537: in dbSNP:rs28639589<li>S->F at 653: in dbSNP:rs34203286<li>N->S at 790: in dbSNP:rs34582164<li>Q->H at 865: in a lung large cell carcinoma sample; somatic mutation<li>S->L at 1109: in dbSNP:rs2229079<li>Y->F at 1239: in dbSNP rsrs56192249<li>Y->S at 1353: in dbSNP rsrs35269727<li>C->R at 1370: in dbSNP rsrs36106063<li>F->S at 1439: in dbSNP:rs17079086<li>R->G at 1506: in dbSNP:rs35841892<li>D->H at 1776: in dbSNP:rs12664076<li>E->K at 1902: in dbSNP:rs9489124<li>H->N at 1999: in dbSNP rsrs45569132<li>K->R at 2003: in a colorectal adenocarcinoma sample; somatic mutation<li>R->H at 2039: in dbSNP:rs3752566<li>F->S at 2138: in a gastric adenocarcinoma sample; somatic mutation<li>D->N at 2203<li>D->E at 2213<li>D->N at 2213: in dbSNP:rs529038<li>K->Q at 2228: in dbSNP:rs529156<li>S->C at 2229: in dbSNP:rs619203<li>N->K at 2240: in dbSNP:rs210968<li>K->R at 2328: in dbSNP:rs35932630</ul>									<li>rs34582164</li><li>rs17079086</li><li>rs12664076</li><li>rs56192249</li><li>rs45606237</li><li>rs35269727</li><li>rs55959124</li><li>rs56274823</li><li>rs9489124</li><li>rs36106063</li><li>rs210968</li><li>rs529038</li><li>rs28639589</li><li>rs3752566</li><li>rs529156</li><li>rs2243380</li><li>rs619203</li><li>rs1998206</li><li>rs55707658</li><li>rs35932630</li><li>rs34203286</li><li>rs45569132</li><li>rs2229079</li><li>rs34245787</li><li>rs35841892</li>	2
P09001	11222	<ul><li>M->T at 261: in dbSNP:rs2291381</ul>									rs2291381	2
P09093	10136	<ul><li>G->A at 241: in dbSNP:rs3820285</ul>									rs3820285	2
P09104	2026	<ul><li>P->A at 264<li>T->A at 395</ul>										2
P09110	30	<ul><li>E->D at 172: in dbSNP:rs156265</ul>									rs156265	2
P09131	8273	<ul><li>V->I at 354: in dbSNP:rs35381503</ul>									rs35381503	2
P09132	6728	<ul><li>A->T at 4: in dbSNP:rs17855423</ul>									rs17855423	2
P09172	1621	<ul><li>G->S at 12: in dbSNP:rs5318<li>V->M at 101: in DBH deficiency, MIM: 223360<li>D->E at 114: in DBH deficiency, MIM: 223360<li>E->Q at 181: in dbSNP:rs5319, MIM: 223360<li>A->T at 211: in dbSNP:rs5320, MIM: 223360<li>K->N at 239: in dbSNP:rs5321, MIM: 223360<li>E->Q at 250: in dbSNP:rs5323, MIM: 223360<li>D->N at 290: in dbSNP:rs5324, MIM: 223360<li>L->P at 317: in dbSNP:rs5325, MIM: 223360<li>A->S at 318: in allele DBH-B; dbSNP:rs4531, MIM: 223360<li>D->N at 345: in DBH deficiency, MIM: 223360<li>R->C at 549: in dbSNP:rs6271, MIM: 223360</ul>							<li>P15101</li><li>P09172</li>	DBH deficiency [MIM:223360]	<li>rs5320</li><li>rs5321</li><li>rs4531</li><li>rs6271</li><li>rs5319</li><li>rs5318</li><li>rs5325</li><li>rs5324</li><li>rs5323</li>	2
P09210	2939	<ul><li>P->S at 110: in dbSNP:rs2234951<li>S->T at 112: in dbSNP:rs2180314<li>V->A at 149: in dbSNP:rs2266631<li>E->A at 210: in dbSNP:rs6577</ul>									<li>rs2180314</li><li>rs6577</li><li>rs2266631</li><li>rs2234951</li>	2
P09211	2950	<ul><li>I->V at 105: in allele GSTP1*B and allele GSTP1*C; dbSNP:rs1695<li>A->V at 114: in allele GSTP1*C; dbSNP:rs1138272<li>G->D at 169: in dbSNP:rs41462048</ul>							<li>Q5R8R5</li><li>P28801</li><li>P09211</li><li>P80031</li><li>Q28514</li><li>Q9TTY8</li><li>Q60550</li><li>P47954</li><li>P46424</li>		<li>rs1695</li><li>rs1138272</li><li>rs41462048</li>	2
P09237	4316	<ul><li>R->H at 77: in dbSNP:rs10502001<li>G->D at 137: in dbSNP:rs17884789<li>P->L at 241: in dbSNP:rs17886506</ul>									<li>rs17884789</li><li>rs17886506</li><li>rs10502001</li>	2
P09238	4319	<ul><li>L->V at 4: in dbSNP:rs17435959<li>R->K at 53: in dbSNP:rs486055<li>G->R at 65: in dbSNP:rs17293607<li>E->Q at 142: in a breast cancer sample; somatic mutation<li>F->L at 226: in dbSNP:rs17860971<li>G->E at 282: in dbSNP:rs17860973<li>L->F at 440: in dbSNP:rs17860996<li>H->L at 475: in dbSNP:rs17861009</ul>									<li>rs17293607</li><li>rs486055</li><li>rs17435959</li><li>rs17861009</li><li>rs17860971</li><li>rs17860973</li><li>rs17860996</li>	2
P09326	962	<ul><li>E->Q at 102: in dbSNP:rs2295615<li>L->S at 241: in dbSNP:rs16832307</ul>									<li>rs2295615</li><li>rs16832307</li>	2
P09417	5860	<ul><li>L->P at 14: in PK2; severe, MIM: 261630<li>G->R at 17: in PK2; severe, MIM: 261630<li>G->V at 17: in PK2; severe, MIM: 261630<li>G->D at 18: in PK2; severe, MIM: 261630<li>G->D at 23: in PK2; severe, MIM: 261630<li>W->R at 36: in PK2, MIM: 261630<li>S->T at 51, MIM: 261630<li>Q->R at 66: in PK2; severe, MIM: 261630<li>L->P at 74: in PK2, MIM: 261630<li>W->G at 108: in PK2, MIM: 261630<li>T->TT at 123: in PK2, MIM: 261630<li>P->L at 145: in PK2, MIM: 261630<li>G->R at 149: in PK2, MIM: 261630<li>Y->C at 150: in PK2; mild, MIM: 261630<li>G->S at 151: in PK2; mild, MIM: 261630<li>H->Y at 158: in PK2; severe, MIM: 261630<li>G->S at 170: in PK2, MIM: 261630<li>F->C at 212: in PK2; mild, MIM: 261630<li>G->GITG at 218: in PK2; mild, MIM: 261630</ul>							<li>P41676</li><li>Q02595</li><li>Q9HC23</li><li>P14618</li><li>Q9QXU7</li><li>P34099</li><li>Q8R413</li>	Phenylketonuria II (PK2) [MIM:261630]		2
P09429	3146	<ul><li>G->R at 11: in gastric-carcinoma cell line<li>A->E at 149: in gastric-carcinoma cell line<li>E->Q at 156<li>D->G at 190: in gastric-carcinoma cell line</ul>										2
P09466	5047	<ul><li>L->V at 28: in dbSNP:rs34284195<li>Q->K at 126: in dbSNP:rs3748210</ul>									<li>rs34284195</li><li>rs3748210</li>	2
P09467	2203	<ul><li>G->S at 164: in FBPD, MIM: 229700<li>A->D at 177: in FBPD, MIM: 229700<li>F->S at 194: in FBPD, MIM: 229700<li>K->R at 218: in dbSNP:rs1769259, MIM: 229700<li>F->I at 233: in dbSNP:rs2297085, MIM: 229700<li>R->L at 255: in dbSNP:rs28369761, MIM: 229700<li>P->R at 284: in FBPD, MIM: 229700<li>V->A at 325, MIM: 229700</ul>								Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	<li>rs28369761</li><li>rs2297085</li><li>rs1769259</li>	2
P09486	6678	<ul><li>P->S at 19: in dbSNP:rs6874468</ul>									rs6874468	2
P09488	2944	<ul><li>K->N at 173: in allele GSTM1B: in dbSNP rsrs1065411<li>S->T at 210: in dbSNP:rs449856</ul>									<li>rs1065411</li><li>rs449856</li>	2
P09493	7168	<ul><li>E->K at 40: in CMD1Y, MIM: 611878<li>E->K at 54: in CMD1Y, MIM: 611878<li>A->V at 63: in CMH3, MIM: 115196<li>D->N at 175: in CMH3: in dbSNP rsrs28934270, MIM: 115196<li>E->G at 180: in CMH3: in dbSNP rsrs28934269, MIM: 115196<li>E->V at 180: in CMH3, MIM: 115196</ul>								<li>Cardiomyopathy familial hypertrophic type 3 (CMH3) [MIM:115196]</li><li>Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878]</li>	<li>rs28934269</li><li>rs28934270</li>	2
P09543	1267	<ul><li>Q->R at 207: in dbSNP:rs34353668</ul>									rs34353668	2
P09544	7472	<ul><li>L->R at 5<li>C->F at 294: in dbSNP:rs1051751<li>R->W at 299</ul>									rs1051751	2
P09564	924	<ul><li>T->A at 113: in dbSNP:rs34579511</ul>									rs34579511	2
P09601	3162	<ul><li>D->H at 7: in dbSNP:rs2071747<li>P->L at 106: in dbSNP:rs9282702</ul>									<li>rs2071747</li><li>rs9282702</li>	2
P09603	1435	<ul><li>S->N at 341: in dbSNP:rs12565736<li>L->P at 408: in dbSNP:rs1058885<li>G->R at 438: in dbSNP:rs2229165<li>S->F at 489: in dbSNP:rs333971<li>S->F at 496: in dbSNP rsrs12721516<li>A->V at 531: in dbSNP:rs2229167</ul>									<li>rs333971</li><li>rs12721516</li><li>rs1058885</li><li>rs2229165</li><li>rs12565736</li><li>rs2229167</li>	2
P09619	5159	<ul><li>I->F at 29: in dbSNP:rs17110944<li>S->F at 180: in dbSNP:rs17853027<li>E->K at 282: in dbSNP:rs34586048<li>P->S at 345: in dbSNP:rs2229558<li>E->K at 485: in dbSNP rsrs41287110<li>Y->H at 589: in a gastric adenocarcinoma sample; somatic mutation<li>N->Y at 718: in dbSNP rsrs35322465<li>T->I at 882: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>									<li>rs41287110</li><li>rs2229558</li><li>rs17110944</li><li>rs35322465</li><li>rs34586048</li><li>rs17853027</li>	2
P09622		<ul><li>K->E at 72: in DLD deficiency<li>T->K at 104: in dbSNP:rs1130477<li>G->C at 229: in DLD deficiency; carrier rate among Askenazi Jewish 1:94<li>L->V at 331: in dbSNP:rs17624<li>P->L at 488: in DLD deficiency<li>R->G at 495: in DLD deficiency; loss of enzyme activity</ul>							<li>Q60HG3</li><li>Q86WU2</li><li>Q7TNG8</li><li>Q5R4B1</li><li>P49819</li><li>P32891</li><li>P09622</li><li>Q8CIZ7</li><li>Q12627</li><li>P09623</li>		<li>rs1130477</li><li>rs17624</li>	2
P09651	3178	<ul><li>N->S at 73: in dbSNP:rs6533</ul>									rs6533	2
P09661	6627	<ul><li>R->H at 234: in dbSNP:rs1050843</ul>									rs1050843	2
P09668		<ul><li>G->R at 126: in a colorectal cancer sample; somatic mutation</ul>										2
P09681	2695	<ul><li>S->G at 103: in dbSNP:rs2291725<li>N->S at 146: in dbSNP:rs35703924</ul>									<li>rs2291725</li><li>rs35703924</li>	2
P09693	917	<ul><li>V->F at 131: in dbSNP:rs3753058</ul>									rs3753058	2
P09758	4070	<ul><li>E->D at 147: in dbSNP:rs1062964<li>D->A at 173: in dbSNP:rs35075952<li>D->E at 216: in dbSNP:rs14008</ul>									<li>rs35075952</li><li>rs14008</li><li>rs1062964</li>	2
P09769	2268	<ul><li>T->I at 110<li>S->R at 130: in dbSNP rsrs35334091</ul>									rs35334091	2
P09848	3938	<ul><li>V->I at 219: in dbSNP:rs3754689<li>Q->H at 268: in congenital lactase deficiency, MIM: 223000<li>V->I at 362: in dbSNP:rs4954449, MIM: 223000<li>G->S at 1363: in congenital lactase deficiency, MIM: 223000<li>N->S at 1639: in dbSNP:rs2322659, MIM: 223000</ul>							<li>P48981</li><li>P16278</li><li>P48982</li><li>P48980</li><li>P19668</li><li>P30812</li><li>O52629</li><li>P29853</li><li>O19015</li><li>P81669</li><li>P50388</li><li>Q02603</li><li>Q02604</li><li>O07684</li><li>O07685</li><li>Q59750</li><li>P22498</li><li>P23780</li><li>Q48727</li><li>Q00662</li><li>P70753</li><li>Q02401</li><li>Q60HF6</li><li>Q1G9Z4</li><li>O33815</li><li>P45582</li><li>O52847</li><li>Q59140</li><li>P26257</li><li>P24131</li><li>P81650</li><li>Q47077</li><li>P09848</li><li>Q9K9C6</li><li>P06864</li><li>P14288</li><li>Q48846</li><li>P49676</li><li>P06219</li><li>P09849</li><li>Q48847</li><li>P0C1Y0</li><li>Q9TRY9</li><li>P23989</li><li>P00723</li><li>P77989</li><li>Q56307</li><li>Q7WTB4</li><li>P00722</li><li>Q7WTB3</li>	Congenital lactase deficiency [MIM:223000]	<li>rs4954449</li><li>rs3754689</li><li>rs2322659</li>	2
P09871	716	<ul><li>R->H at 119: in dbSNP:rs12146727<li>V->L at 327: in dbSNP:rs2239170<li>R->H at 383: in dbSNP:rs20573</ul>									<li>rs20573</li><li>rs2239170</li><li>rs12146727</li>	2
P09874	142	<ul><li>F->L at 54: in dbSNP:rs3738708<li>A->T at 188: in dbSNP:rs1805409<li>V->I at 334: in dbSNP:rs3219057<li>P->S at 377: in dbSNP:rs2230484<li>S->Y at 383: in dbSNP:rs3219062<li>E->V at 488: in a breast cancer sample; somatic mutation<li>V->A at 762: in dbSNP:rs1136410<li>K->R at 940: in dbSNP:rs3219145</ul>									<li>rs1136410</li><li>rs2230484</li><li>rs3219062</li><li>rs3738708</li><li>rs3219057</li><li>rs3219145</li><li>rs1805409</li>	2
P09884	5422	<ul><li>Y->H at 740: in dbSNP:rs2230927</ul>									rs2230927	2
P09913	3433	<ul><li>E->A at 79: in dbSNP:rs17468739<li>K->R at 121: in dbSNP:rs2070845<li>D->E at 352: in dbSNP:rs1727</ul>									<li>rs1727</li><li>rs2070845</li><li>rs17468739</li>	2
P09914	3434	<ul><li>P->H at 131: in dbSNP:rs11553019</ul>									rs11553019	2
P09917	240	<ul><li>E->K at 254: in dbSNP:rs2228065</ul>									rs2228065	2
P09919	1440	<ul><li>L->M at 157: in dbSNP:rs2227329<li>A->T at 174: in dbSNP:rs2227330</ul>									<li>rs2227330</li><li>rs2227329</li>	2
P09923	248	<ul><li>R->H at 144: in dbSNP:rs7559279<li>H->L at 298: in dbSNP:rs1047223</ul>									<li>rs7559279</li><li>rs1047223</li>	2
P09936	7345	<ul><li>S->Y at 18: may reduce the risk for PD; loss of dimerization ability and impaired ligase activity; dbSNP:rs5030732<li>I->M at 93: in a PD patient; impaired enzymatic hydrolase activity</ul>			<li>hydrolase activity</li><li>ligase activity</li>	<li>GO:0016787</li><li>GO:0016874</li>					rs5030732	2
P09958	5045	<ul><li>A->V at 43: in dbSNP:rs16944971<li>W->R at 547: in cell line LoVo; does not undergo autocatalytic activation and is not transported to the Golgi apparatus</ul>					Golgi apparatus	GO:0005794			rs16944971	2
P09960	4048	<ul><li>Y->H at 131: in dbSNP:rs45630737</ul>									rs45630737	2
P0C024	283927	<ul><li>R->H at 100: in dbSNP:rs308925<li>E->G at 181: in dbSNP:rs16946429</ul>									<li>rs308925</li><li>rs16946429</li>	2
P0C0L4	720	<ul><li>S->Y at 347: in dbSNP:rs392610<li>R->W at 477: in allotype C4A6<li>P->L at 726: in allotype C4A3; dbSNP:rs2229408<li>D->N at 727<li>A->T at 907: in dbSNP:rs429329<li>D->G at 1073: in allotype C4A1; dbSNP:rs2258218<li>N->S at 1176: in allotype C4A1; dbSNP:rs2746414: in dbSNP rsrs17874654<li>S->T at 1201: in allotype C4A6, allotype C4A3 and allotype C4A1<li>V->A at 1207: in allotype C4A1; dbSNP:rs2229403: in dbSNP rsrs28357075<li>L->R at 1210: in allotype C4A1; dbSNP:rs2229409: in dbSNP rsrs28357076<li>S->A at 1286: in allotype C4A6, allotype C4A1, allotype C4A3; dbSNP:rs9501603</ul>									<li>rs28357075</li><li>rs28357076</li><li>rs429329</li><li>rs392610</li><li>rs17874654</li>	2
P0C0L5		<ul><li>S->Y at 347: in dbSNP:rs392610<li>A->T at 907: in dbSNP:rs429329<li>D->G at 1073: in allotype C4B1 and allotype C4B3; dbSNP:rs2258218<li>N->S at 1176: in allotype C4B1, allotype C4B3 and allotype C4B5; dbSNP:rs2746414<li>S->T at 1201: in allotype C4B<li>V->A at 1207: in allotype C4B1, allotype C4B2 and allotype C4B3; dbSNP:rs2229403<li>L->R at 1210: in allotype C4B1, allotype C4B2 and allotype C4B3; dbSNP:rs2229409<li>S->A at 1286: in dbSNP:rs9501603</ul>							P0C0L5		<li>rs9501603</li><li>rs429329</li><li>rs392610</li>	2
P0C0P6	594857	<ul><li>S->L at 14: in dbSNP:rs990310<li>V->L at 75: in dbSNP:rs4751440</ul>									<li>rs4751440</li><li>rs990310</li>	2
P0C1H6	286436	<ul><li>R->H at 22: in dbSNP:rs578953</ul>									rs578953	2
P0C1S8		<ul><li>K->T at 8<li>N->K at 332: in a gastric adenocarcinoma sample; somatic mutation<li>R->H at 398: in an ovarian mucinous carcinoma sample; somatic mutation<li>D->E at 470<li>Y->D at 526</ul>										2
P0C221	729665	<ul><li>G->R at 164: in dbSNP:rs17834244<li>G->E at 507: in dbSNP:rs4261431<li>S->N at 689: in dbSNP:rs12887189<li>S->R at 689: in dbSNP:rs4394993</ul>									<li>rs4261431</li><li>rs17834244</li><li>rs4394993</li><li>rs12887189</li>	2
P0C263		<ul><li>E->K at 20<li>A->E at 41<li>G->D at 102</ul>										2
P0C2Y1	343505	<ul><li>E->D at 170: in dbSNP:rs6678923</ul>									rs6678923	2
P0C5J1	653333	<ul><li>D->Y at 43: in dbSNP:rs2684093<li>R->S at 285: in dbSNP:rs7817085</ul>									<li>rs7817085</li><li>rs2684093</li>	2
P0C6C1		<ul><li>P->R at 369: in dbSNP:rs410400<li>P->H at 427: in dbSNP:rs449340<li>L->I at 442: in dbSNP:rs422777</ul>									<li>rs422777</li><li>rs410400</li><li>rs449340</li>	2
P0C6P0	606	<ul><li>V->A at 33: in dbSNP:rs6422240<li>T->I at 54: in dbSNP:rs6422239<li>C->R at 81: in dbSNP:rs7497658</ul>									<li>rs6422240</li><li>rs7497658</li><li>rs6422239</li>	2
P0C7H9	392197	<ul><li>A->G at 161: in dbSNP:rs17815120<li>P->L at 494: in dbSNP:rs9694759</ul>									<li>rs9694759</li><li>rs17815120</li>	2
P0C7I6		<ul><li>C->S at 393: in dbSNP:rs6887</ul>									rs6887	2
P0C7L1	646424	<ul><li>K->N at 78: in dbSNP:rs11718350</ul>									rs11718350	2
P0C7P3	342618	<ul><li>Q->R at 93: in dbSNP:rs10512472<li>K->E at 385: in dbSNP:rs321612<li>G->S at 870: in dbSNP:rs1350011<li>S->I at 880: in dbSNP:rs1350010<li>L->F at 905: in dbSNP:rs9907259<li>Y->F at 912: in dbSNP:rs8073060</ul>									<li>rs9907259</li><li>rs321612</li><li>rs10512472</li><li>rs8073060</li><li>rs1350010</li><li>rs1350011</li>	2
P0C7Q2	387715	<ul><li>R->H at 3: in dbSNP:rs10490923<li>A->S at 69: in dbSNP:rs10490924</ul>									<li>rs10490924</li><li>rs10490923</li>	2
P0C7Q3	339521	<ul><li>Q->R at 48: in dbSNP:rs12028402<li>T->N at 236: in dbSNP:rs10919847</ul>									<li>rs10919847</li><li>rs12028402</li>	2
P0C7Q6	643664	<ul><li>A->T at 51: in dbSNP:rs3760422<li>P->L at 251: in dbSNP:rs4491591</ul>									<li>rs3760422</li><li>rs4491591</li>	2
P0C7T5	342371	<ul><li>S->P at 313: in dbSNP:rs7194407</ul>									rs7194407	2
P0C7T7	145438	<ul><li>G->R at 115: in dbSNP:rs11845396</ul>									rs11845396	2
P0C7U3	653082	<ul><li>R->Q at 42: in dbSNP:rs1809933<li>R->G at 200: in dbSNP:rs634901</ul>									<li>rs634901</li><li>rs1809933</li>	2
P0C7V3	343629	<ul><li>Q->R at 92: in dbSNP:rs8118985<li>M->T at 231: in dbSNP:rs236725<li>M->T at 263: in dbSNP:rs236724<li>R->Q at 269: in dbSNP:rs2558122<li>R->Q at 285: in dbSNP:rs6070731<li>R->Q at 301: in dbSNP:rs236723</ul>									<li>rs2558122</li><li>rs236725</li><li>rs236723</li><li>rs236724</li><li>rs6070731</li><li>rs8118985</li>	2
P0C7V8		<ul><li>T->A at 316: in dbSNP:rs5926895</ul>									rs5926895	2
P0C7X2	146542	<ul><li>S->I at 131: in dbSNP:rs33997546</ul>									rs33997546	2
P0C7X4		<ul><li>R->H at 17: in dbSNP:rs7058438<li>A->P at 106: in dbSNP:rs7055365</ul>									<li>rs7055365</li><li>rs7058438</li>	2
P0C7X5	646915	<ul><li>V->A at 8: in dbSNP:rs2459647<li>A->S at 28: in dbSNP:rs7340197<li>F->L at 44: in dbSNP:rs7355766<li>K->T at 60: in dbSNP:rs4953961<li>G->E at 163: in dbSNP:rs7349198<li>R->C at 189: in dbSNP:rs7349364<li>V->I at 276: in dbSNP:rs7349215<li>D->E at 375: in dbSNP:rs7340499<li>F->C at 498: in dbSNP:rs2598809<li>R->H at 561: in dbSNP:rs7340213<li>K->E at 564: in dbSNP:rs2598806</ul>									<li>rs4953961</li><li>rs7349364</li><li>rs7355766</li><li>rs7340213</li><li>rs7349198</li><li>rs2598809</li><li>rs7340197</li><li>rs7349215</li><li>rs2598806</li><li>rs2459647</li><li>rs7340499</li>	2
P0C860		<ul><li>N->D at 47: in dbSNP:rs1131804<li>L->I at 99: in dbSNP:rs16849902<li>S->N at 145: in dbSNP:rs1051597<li>A->D at 147: in dbSNP:rs213544<li>P->S at 257: in dbSNP:rs13384181<li>K->E at 316: in dbSNP:rs28900724</ul>									<li>rs1051597</li><li>rs13384181</li><li>rs1131804</li><li>rs28900724</li><li>rs16849902</li><li>rs213544</li>	2
P0C862	338872	<ul><li>M->V at 219: in dbSNP:rs3751357<li>V->M at 301: in dbSNP:rs4589405</ul>									<li>rs4589405</li><li>rs3751357</li>	2
P0C867	100130201	<ul><li>S->L at 98: in dbSNP:rs590557</ul>									rs590557	2
P0C869	8681	<ul><li>R->C at 191: in dbSNP:rs3816533<li>M->I at 239: in dbSNP:rs2290552<li>R->H at 391: in dbSNP:rs34807597</ul>									<li>rs3816533</li><li>rs2290552</li><li>rs34807597</li>	2
P0C870	100137047	<ul><li>A->G at 28: in dbSNP:rs7174710</ul>									rs7174710	2
P10070	2736	<ul><li>D->H at 449: in dbSNP:rs13427953<li>R->G at 479: in HPE9, MIM: 610829<li>S->I at 579: in dbSNP:rs12618388, MIM: 610829<li>P->S at 625: in dbSNP:rs3099537, MIM: 610829<li>P->S at 932: in HPE9, MIM: 610829<li>A->S at 1156: in dbSNP:rs3738880, MIM: 610829<li>D->N at 1306: in dbSNP:rs12711538, MIM: 610829<li>M->I at 1444: in HPE9, MIM: 610829<li>P->L at 1554: in HPE9, MIM: 610829</ul>								Holoprosencephaly type 9 (HPE9) [MIM:610829]	<li>rs12711538</li><li>rs3099537</li><li>rs13427953</li><li>rs12618388</li><li>rs3738880</li>	2
P10071	2737	<ul><li>P->L at 169: in a colorectal cancer sample; somatic mutation<li>A->T at 183: in dbSNP:rs846266<li>D->E at 440<li>C->G at 515: in GCPS, MIM: 175700<li>C->Y at 520: in GCPS, MIM: 175700<li>R->W at 625: in GCPS, MIM: 175700<li>P->S at 707: in GCPS, MIM: 175700<li>G->R at 727: in PAPA1/PAPB, MIM: 174200<li>I->M at 808: in GCPS, MIM: 175700<li>A->P at 934: in ACS; dbSNP:rs28933372, MIM: 200990<li>L->P at 998: in dbSNP:rs929387, MIM: 200990<li>S->P at 1304: in a colorectal cancer sample; somatic mutation, MIM: 200990<li>G->E at 1336: in dbSNP:rs35280470, MIM: 200990<li>R->C at 1537: in dbSNP:rs35364414, MIM: 200990</ul>							<li>Q9NR19</li><li>Q9VP61</li><li>Q9QXG4</li><li>Q8NCC3</li><li>O18417</li><li>P05623</li><li>P67807</li><li>P67806</li><li>Q8VEB4</li><li>Q27549</li><li>Q9C086</li>	<li>Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]</li><li>Type A1/B postaxial polydactyly (PAPA1/PAPB) [MIM:174200, 603596]</li><li>Acrocallosal syndrome (ACS) [MIM:200990]</li>	<li>rs35364414</li><li>rs35280470</li><li>rs28933372</li><li>rs929387</li><li>rs846266</li>	2
P10072	284459	<ul><li>R->H at 448: in dbSNP:rs2921563<li>S->I at 513: in dbSNP:rs3745765<li>T->I at 628: in dbSNP:rs3745764</ul>									<li>rs3745764</li><li>rs2921563</li><li>rs3745765</li>	2
P10074	3104	<ul><li>S->A at 675: in dbSNP:rs2229330</ul>									rs2229330	2
P10075	2738	<ul><li>A->T at 180: in dbSNP:rs1056148</ul>									rs1056148	2
P10082	5697	<ul><li>G->R at 37: in dbSNP:rs229969<li>T->R at 72: in dbSNP:rs1058046<li>D->H at 95: in dbSNP:rs465407</ul>									<li>rs1058046</li><li>rs229969</li><li>rs465407</li>	2
P10124	5552	<ul><li>Q->R at 31: in dbSNP:rs2805910</ul>									rs2805910	2
P10144	3002	<ul><li>Q->R at 55: in dbSNP:rs8192917<li>P->A at 94: in dbSNP:rs11539752<li>Y->H at 247: in dbSNP:rs2236338</ul>									<li>rs11539752</li><li>rs8192917</li><li>rs2236338</li>	2
P10147	6348	<ul><li>E->D at 78: in dbSNP:rs34171309</ul>									rs34171309	2
P10153	6036	<ul><li>H->N at 156: probably inactive</ul>										2
P10163	5545	<ul><li>Missing  at 113-154: in allele M and allele S<li>Missing  at 164-184: in allele S<li>R->G at 185: in dbSNP:rs11054244<li>P->R at 186: in dbSNP:rs11054243<li>P->H at 200: in dbSNP:rs12308244<li>P->A at 272: in dbSNP:rs1052808</ul>									<li>rs11054243</li><li>rs1052808</li><li>rs11054244</li><li>rs12308244</li>	2
P10242	4602	<ul><li>T->I at 336: in dbSNP:rs2229999<li>T->N at 422: in dbSNP:rs2230000</ul>									<li>rs2230000</li><li>rs2229999</li>	2
P10244	4605	<ul><li>N->S at 341: in dbSNP:rs6017146<li>S->G at 427: in dbSNP:rs2070235<li>V->M at 595: in dbSNP:rs7660<li>I->M at 624: in dbSNP:rs11556379</ul>									<li>rs11556379</li><li>rs7660</li><li>rs2070235</li><li>rs6017146</li>	2
P10253	2548	<ul><li>D->N at 91: in allele GAA*2; lower affinity for glycogen and starch but not for lower-molecular weight substrates; dbSNP:rs1800299<li>C->G at 103: in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme, MIM: 232300<li>Y->C at 191: in GSD2; extremely low residual enzymatic activity, MIM: 232300<li>R->H at 199: in dbSNP:rs1042393, MIM: 232300<li>L->P at 208: in GSD2, MIM: 232300<li>G->R at 219: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>H->R at 223: in dbSNP:rs1042395, MIM: 232300<li>R->W at 224: in GSD2; infantile; mild partial loss of activity, MIM: 232300<li>A->V at 237: in GSD2, MIM: 232300<li>E->K at 262: in GSD2; infantile; severe, MIM: 232300<li>P->R at 285: in GSD2; juvenile form; mild; partial loss of activity, MIM: 232300<li>Y->C at 292: in GSD2; juvenile form; mild; partial loss of activity, MIM: 232300<li>G->R at 293: in GSD2; infantile form; severe; almost complete loss of activity, MIM: 232300<li>L->R at 299: in GSD2; infantile form, MIM: 232300<li>H->L at 308: in GSD2, MIM: 232300<li>H->P at 308: in GSD2; infantile form; severe; complete loss of activity, MIM: 232300<li>G->R at 309: in GSD2; severe, MIM: 232300<li>L->R at 312: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>M->T at 318: in GSD2; severe, MIM: 232300<li>P->L at 324: in GSD2, MIM: 232300<li>W->G at 330: in GSD2; infantile form; severe, MIM: 232300<li>L->P at 355: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>P->L at 361: in GSD2; juvenile form; severe, MIM: 232300<li>C->R at 374: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>R->L at 375: in GSD2; extremely low residual enzymatic activity, MIM: 232300<li>G->R at 377: in GSD2; severe, MIM: 232300<li>Q->R at 401: in GSD2; extremely low residual enzymatic activity, MIM: 232300<li>W->R at 402: in GSD2; severe, MIM: 232300<li>D->N at 404: in GSD2; severe, MIM: 232300<li>L->P at 405: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>M->V at 408: in GSD2; juvenile form; severe, MIM: 232300<li>R->C at 437: in GSD2; juvenile form; severe, MIM: 232300<li>A->P at 445: in GSD2, MIM: 232300<li>Y->F at 455: in GSD2; juvenile form; almost complete loss of activity, MIM: 232300<li>P->L at 457: in GSD2; juvenile form, MIM: 232300<li>Missing  at 459: in GSD2; infantile form; severe, MIM: 232300<li>G->R at 478: in GSD2; severe; loss of activity, MIM: 232300<li>W->R at 481: in GSD2; severe; loss of activity, MIM: 232300<li>D->N at 489: in GSD2; severe, MIM: 232300<li>M->T at 519: in GSD2; severe; loss of activity, MIM: 232300<li>M->V at 519: in GSD2, MIM: 232300<li>E->K at 521: in GSD2; severe, MIM: 232300<li>P->A at 522: in GSD2; no residual enzymatic activity, MIM: 232300<li>S->V at 529: in GSD2; mild; requires 2 nucleotide substitutions, MIM: 232300<li>P->L at 545: in GSD2; mild; partial loss of activity, MIM: 232300<li>G->R at 549: in GSD2; juvenile form; mild; partial loss of activity, MIM: 232300<li>L->P at 552: in GSD2; infantile/juvenile form; severe; loss of activity, MIM: 232300<li>S->P at 566: in GSD2; infantile form, MIM: 232300<li>Y->S at 575: in GSD2; juvenile form, MIM: 232300<li>G->A at 576, MIM: 232300<li>G->S at 576: retains about half of the activity compared with the wild-type; dbSNP:rs1800307, MIM: 232300<li>E->K at 579: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>R->M at 585: in GSD2, MIM: 232300<li>S->Y at 599: in GSD2; no residual enzymatic activity, MIM: 232300<li>R->C at 600: in GSD2; juvenile form; loss of activity, MIM: 232300<li>R->H at 600: in GSD2; infantile form, MIM: 232300<li>Missing  at 607-612: in GSD2, MIM: 232300<li>G->D at 607: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>H->Q at 612: in GSD2, MIM: 232300<li>G->R at 615: in GSD2; infantile/adult form, MIM: 232300<li>S->R at 619: in GSD2; loss of function of the mutant enzyme, MIM: 232300<li>G->W at 638: in GSD2, MIM: 232300<li>G->R at 643: in GSD2; infantile form: in dbSNP rsrs28937909, MIM: 232300<li>D->E at 645: in GSD2; infantile form; most common mutation; deficient in phosphorylation and in proteolytic processing: in dbSNP rsrs28940868, MIM: 232300<li>D->H at 645: in GSD2; almost complete loss of activity, MIM: 232300<li>D->N at 645: in GSD2, MIM: 232300<li>C->W at 647: in GSD2, MIM: 232300<li>G->S at 648: in GSD2, MIM: 232300<li>R->H at 660: in GSD2; loss of function of the mutant enzyme, MIM: 232300<li>R->Q at 672: in GSD2, MIM: 232300<li>R->T at 672: in GSD2, MIM: 232300<li>R->W at 672: in GSD2, MIM: 232300<li>Missing  at 675: in GSD2; infantile form, MIM: 232300<li>E->K at 689: in allele GAA*4; dbSNP:rs1800309, MIM: 232300<li>R->C at 702: in GSD2; no enzymatic activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme, MIM: 232300<li>R->W at 725: in GSD2; adult form: in dbSNP rsrs28939100, MIM: 232300<li>W->C at 746: in dbSNP:rs1800312, MIM: 232300<li>P->R at 768: in GSD2; infantile form, MIM: 232300<li>I->V at 780: in dbSNP:rs1126690, MIM: 232300<li>V->I at 816: in dbSNP:rs1800314, MIM: 232300<li>A->D at 880: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>L->Q at 901: in GSD2; infantile form; severe, MIM: 232300<li>Missing  at 903: in GSD2; infantile form; severe; loss of activity, MIM: 232300<li>N->NGVPVSN at 925: in GSD2, MIM: 232300<li>T->I at 927: loss of glycosylation site; dbSNP:rs1800315, MIM: 232300<li>V->D at 949: in GSD2, MIM: 232300</ul>	<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>			ER	GO:0005783	<li>Q9MYM4</li><li>P49095</li><li>P42042</li><li>P10253</li><li>Q5R7A9</li>	Glycogen storage disease type 2 (GSD2) [MIM:232300]	<li>rs1042393</li><li>rs28939100</li><li>rs1800315</li><li>rs28937909</li><li>rs1800314</li><li>rs1800312</li><li>rs28940868</li><li>rs1800299</li><li>rs1800307</li><li>rs1126690</li><li>rs1800309</li><li>rs1042395</li>	2
P10275	367	<ul><li>E->K at 2: in PAIS, MIM: 312300<li>L->S at 54: in prostate cancer, MIM: 312300<li>L->Q at 57: in prostate cancer, MIM: 312300<li>Q->R at 64: in prostate cancer, MIM: 312300<li>Missing at 74-78, MIM: 312300<li>Q->H at 112: in prostate cancer, MIM: 312300<li>K->R at 180: in prostate cancer, MIM: 312300<li>Q->R at 194: in AIS, MIM: 300068<li>S->R at 205, MIM: 300068<li>G->R at 214: in AIS; 20% lower transactivation capacity, MIM: 300068<li>L->P at 255: in AIS, MIM: 300068<li>M->T at 266: in prostate cancer, MIM: 300068<li>P->S at 269: in prostate cancer, MIM: 300068<li>P->L at 340: in prostate cancer, MIM: 300068<li>P->R at 390: in AIS, MIM: 300068<li>P->S at 390: in AIS, MIM: 300068<li>Q->R at 443: in AIS; might be a polymorphism, MIM: 300068<li>Missing at 465-472, MIM: 300068<li>G->S at 491: in AIS, MIM: 300068<li>D->G at 528: in prostate cancer, MIM: 300068<li>L->F at 547: in PAIS, MIM: 312300<li>P->S at 548: in AIS, MIM: 300068<li>C->Y at 559: in AIS, MIM: 300068<li>G->V at 568: in a patient with isolated hypospadias, MIM: 300068<li>G->W at 568: in PAIS, MIM: 312300<li>Y->C at 571: in AIS, MIM: 300068<li>A->D at 573: in AIS; defective DNA binding and transactivation, MIM: 300068<li>L->P at 574: in prostate cancer, MIM: 300068<li>T->A at 575: in prostate cancer, MIM: 300068<li>C->F at 576: in AIS; lack of DNA binding, MIM: 300068<li>C->R at 576: in AIS, MIM: 300068<li>C->F at 579: in AIS; reduced transcription and DNA binding, MIM: 300068<li>C->Y at 579: in AIS, MIM: 300068<li>K->R at 580: in prostate cancer, MIM: 300068<li>V->F at 581: in AIS, MIM: 300068<li>F->S at 582: in PAIS, MIM: 312300<li>F->Y at 582: in PAIS, MIM: 312300<li>Missing  at 582: in AIS, MIM: 312300<li>R->K at 585: in AIS, MIM: 300068<li>A->V at 586: in prostate cancer; somatic mutation, MIM: 300068<li>A->S at 587: in prostate cancer; somatic mutation, MIM: 300068<li>A->T at 596: in AIS; abolishes dimerization, MIM: 300068<li>S->G at 597: in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors, MIM: 312300<li>S->T at 597: in a patient with severe hypospadias, MIM: 312300<li>C->F at 601: in AIS, MIM: 300068<li>D->Y at 604: in PAIS, MIM: 312300<li>R->Q at 607: in PAIS and breast cancer, MIM: 312300<li>R->K at 608: in PAIS and breast cancer; defective nuclear localization, MIM: 312300<li>N->T at 610: in PAIS, MIM: 312300<li>C->Y at 611: in AIS, MIM: 300068<li>R->H at 615: in AIS and PAIS, MIM: 312300<li>R->P at 615: in AIS, MIM: 300068<li>Missing  at 615: in AIS, MIM: 300068<li>L->P at 616: in AIS, MIM: 300068<li>L->R at 616: in PAIS, MIM: 312300<li>R->P at 617: in AIS and PAIS; loss of DNA-binding activity; associated with G-597 in a PAIS patient, MIM: 312300<li>C->Y at 619: in prostate cancer; loss of DNA binding; somatic mutation, MIM: 312300<li>R->Q at 629: in prostate cancer, MIM: 312300<li>K->T at 630: in prostate cancer, MIM: 312300<li>A->D at 645: in dbSNP:rs1800053, MIM: 312300<li>S->N at 647: in prostate cancer, MIM: 312300<li>I->N at 664: in AIS and PAIS, MIM: 312300<li>Q->R at 670: in prostate cancer, MIM: 312300<li>P->H at 671: in PAIS, MIM: 312300<li>I->T at 672: in prostate cancer, MIM: 312300<li>L->P at 677: in AIS, MIM: 300068<li>E->K at 681: in AIS, MIM: 300068<li>P->T at 682: in PAIS, MIM: 312300<li>G->A at 683: in prostate cancer, MIM: 312300<li>V->I at 684: in AIS, MIM: 300068<li>C->R at 686: in PAIS, MIM: 312300<li>A->V at 687: in PAIS, MIM: 312300<li>G->E at 688: in AIS, MIM: 300068<li>Missing  at 690: in PAIS, MIM: 300068<li>Missing  at 692: in AIS, MIM: 300068<li>D->H at 695: in AIS, MIM: 300068<li>D->N at 695: in AIS; almost complete loss of androgen binding and transcription activation, MIM: 300068<li>D->V at 695: in AIS, MIM: 300068<li>L->M at 700: in AIS, MIM: 300068<li>L->F at 701: in AIS, MIM: 300068<li>L->H at 701: in AIS and prostate cancer, MIM: 300068<li>S->A at 702: in AIS, MIM: 300068<li>S->C at 703: in AIS, MIM: 300068<li>S->G at 703: in PAIS and AIS, MIM: 312300<li>N->S at 705: in AIS, MIM: 300068<li>N->Y at 705: in AIS, MIM: 300068<li>L->R at 707: in AIS, MIM: 300068<li>G->A at 708: in PAIS, MIM: 312300<li>G->V at 708: in AIS, MIM: 300068<li>R->T at 710: in AIS, MIM: 300068<li>Q->E at 711: in PAIS, MIM: 312300<li>L->F at 712: in PAIS, MIM: 312300<li>V->M at 715: in prostate cancer; gain in function, MIM: 312300<li>K->E at 717: in prostate cancer, MIM: 312300<li>K->E at 720: in prostate cancer; found in bone metastases, MIM: 312300<li>A->T at 721: in prostate cancer; somatic mutation, MIM: 312300<li>L->F at 722: in AIS, MIM: 300068<li>P->S at 723: in AIS, MIM: 300068<li>G->D at 724: in AIS and prostate cancer, MIM: 300068<li>F->L at 725: in a patient with severe hypospadias, MIM: 300068<li>R->L at 726: in prostate cancer, MIM: 300068<li>N->K at 727: in AIS, MIM: 300068<li>L->S at 728: in PAIS, MIM: 312300<li>V->M at 730: in prostate cancer; increases transcription activation, MIM: 312300<li>D->N at 732: in AIS, MIM: 300068<li>D->Y at 732: in AIS, MIM: 300068<li>Q->H at 733: in PAIS, MIM: 312300<li>I->T at 737: in PAIS, MIM: 312300<li>W->R at 741: in AIS, MIM: 300068<li>M->I at 742: in PAIS, MIM: 312300<li>M->V at 742: in PAIS, MIM: 312300<li>G->E at 743: in AIS, MIM: 300068<li>G->V at 743: in PAIS and AIS, MIM: 312300<li>L->F at 744: in AIS and prostate cancer, MIM: 300068<li>M->T at 745: in PAIS, MIM: 312300<li>V->M at 746: in PAIS, MIM: 312300<li>A->D at 748: in PAIS, MIM: 312300<li>A->T at 748: in prostate cancer, MIM: 312300<li>A->V at 748: in prostate cancer, MIM: 312300<li>M->I at 749: in prostate cancer, MIM: 312300<li>M->V at 749: in PAIS and AIS, MIM: 312300<li>G->D at 750: in AIS; loss of androgen binding, MIM: 300068<li>G->S at 750: in prostate cancer, MIM: 300068<li>W->R at 751: in AIS, MIM: 300068<li>R->Q at 752: in AIS, MIM: 300068<li>F->L at 754: in PAIS and prostate cancer, MIM: 312300<li>F->V at 754: in AIS, MIM: 300068<li>T->A at 755: in prostate cancer, MIM: 300068<li>N->S at 756: in PAIS, MIM: 312300<li>V->A at 757: in prostate cancer, MIM: 312300<li>N->T at 758: in PAIS; 50% reduction in transactivation, MIM: 312300<li>S->F at 759: in AIS, MIM: 300068<li>S->P at 759: in prostate cancer, MIM: 300068<li>L->F at 762: in AIS; loss of androgen binding, MIM: 300068<li>Y->C at 763: in PAIS and prostate cancer; partial loss of androgen binding, MIM: 312300<li>Y->H at 763: in AIS, MIM: 300068<li>F->L at 764: in AIS, MIM: 300068<li>A->T at 765: in AIS; loss of androgen binding, MIM: 300068<li>A->V at 765: in AIS, MIM: 300068<li>P->S at 766: in AIS, MIM: 300068<li>D->E at 767: in AIS, MIM: 300068<li>L->P at 768: in AIS, MIM: 300068<li>N->H at 771: in PAIS, MIM: 312300<li>E->A at 772: in PAIS, MIM: 312300<li>E->G at 772: in PAIS, MIM: 312300<li>R->C at 774: in AIS; loss of androgen binding; frequent mutation, MIM: 300068<li>R->H at 774: in AIS and PAIS; almost complete loss of androgen binding, MIM: 312300<li>R->W at 779: in AIS, MIM: 300068<li>M->I at 780: in PAIS and AIS, MIM: 312300<li>S->N at 782: in prostate cancer; somatic mutation, MIM: 312300<li>C->Y at 784: in AIS; loss of androgen binding and of transactivation, MIM: 300068<li>M->V at 787: in AIS, MIM: 300068<li>R->S at 788: in AIS, MIM: 300068<li>L->F at 790: in AIS, MIM: 300068<li>S->P at 791: in prostate cancer, MIM: 300068<li>E->D at 793, MIM: 300068<li>F->S at 794: in AIS, MIM: 300068<li>Q->E at 798: in PAIS, AIS and prostate cancer; reduced transcription activation, MIM: 312300<li>C->Y at 806: in PAIS, MIM: 312300<li>M->R at 807: in AIS; loss of transactivation, MIM: 300068<li>M->T at 807: in PAIS, MIM: 312300<li>M->V at 807: in AIS; 25% androgen binding, MIM: 300068<li>L->F at 812: in AIS, MIM: 300068<li>S->N at 814: in AIS and PAIS, MIM: 312300<li>G->A at 820: in AIS, MIM: 300068<li>L->V at 821: in PAIS, MIM: 312300<li>F->V at 827: in PAIS, MIM: 312300<li>L->P at 830: in prostate cancer, MIM: 312300<li>R->L at 831: in AIS, MIM: 300068<li>R->Q at 831: in AIS; loss of androgen binding, MIM: 300068<li>Y->C at 834: in AIS; loss of androgen binding, MIM: 300068<li>R->C at 840: in AIS, MIM: 300068<li>R->G at 840: in PAIS, MIM: 312300<li>R->H at 840: in AIS: in dbSNP rsrs9332969, MIM: 300068<li>R->S at 840: in PAIS, MIM: 312300<li>I->S at 841: in PAIS, MIM: 312300<li>I->T at 842: in AIS: in dbSNP rsrs9332970, MIM: 300068<li>R->G at 846: in prostate cancer, MIM: 300068<li>R->K at 854: in PAIS, MIM: 312300<li>R->C at 855: in AIS, MIM: 300068<li>R->H at 855: in AIS; strongly reduced transcription activation: in dbSNP rsrs9332971, MIM: 300068<li>F->L at 856: in AIS, MIM: 300068<li>L->R at 863: in AIS, MIM: 300068<li>D->G at 864: in AIS, MIM: 300068<li>D->N at 864: in AIS; loss of androgen binding, MIM: 300068<li>S->P at 865: in AIS, MIM: 300068<li>V->E at 866: in AIS, MIM: 300068<li>V->L at 866: in PAIS, MIM: 312300<li>V->M at 866: in AIS and prostate cancer, MIM: 300068<li>I->M at 869: in PAIS, MIM: 312300<li>A->G at 870: in PAIS, MIM: 312300<li>A->V at 870: in PAIS, MIM: 312300<li>R->G at 871: in AIS, MIM: 300068<li>H->R at 874: in AIS, MIM: 300068<li>H->Y at 874: in prostate cancer; increases affinity for testosterone, androgen sensitivity and transcription activation, MIM: 300068<li>T->A at 877: in prostate cancer; alters receptor specificity so that transcription is activated by antiandrogens, such as cyproterone acetate; found in bone metastases, MIM: 300068<li>T->S at 877: in prostate cancer, MIM: 300068<li>D->Y at 879: in AIS, MIM: 300068<li>L->Q at 880: in prostate cancer, MIM: 300068<li>L->V at 881: in AIS, MIM: 300068<li>M->V at 886: in AIS, MIM: 300068<li>V->M at 889: in AIS and PAIS, MIM: 312300<li>D->N at 890: in prostate cancer, MIM: 312300<li>F->L at 891: in prostate cancer, MIM: 312300<li>P->L at 892: in AIS, MIM: 300068<li>M->T at 895: in AIS; low androgen binding and transactivation, MIM: 300068<li>A->T at 896: in prostate cancer, MIM: 300068<li>I->T at 898: in AIS, MIM: 300068<li>Q->R at 902: in prostate cancer, MIM: 300068<li>V->M at 903: in PAIS, MIM: 312300<li>P->H at 904: in AIS, MIM: 300068<li>P->S at 904: in AIS, MIM: 300068<li>L->F at 907: in AIS; almost complete loss of transcription activation, MIM: 300068<li>G->E at 909: in prostate cancer, MIM: 300068<li>G->R at 909: in PAIS, MIM: 312300<li>K->R at 910: in prostate cancer, MIM: 312300<li>V->L at 911: in PAIS, MIM: 312300<li>P->S at 913: in PAIS, MIM: 312300<li>F->L at 916: in AIS, MIM: 300068<li>H->R at 917: in AIS, MIM: 300068<li>Q->R at 919: in prostate cancer, MIM: 300068</ul>	<li>localization</li><li>transcription</li>	<li>GO:0051179</li><li>GO:0006350</li>	<li>androgen binding</li><li>DNA binding</li>	<li>GO:0005497</li><li>GO:0003677</li>			P22234	<li>Androgen insensitivity syndrome partial (PAIS) [MIM:312300]</li><li>Androgen insensitivity syndrome (AIS) [MIM:300068]</li>	<li>rs9332970</li><li>rs9332971</li><li>rs9332969</li><li>rs1800053</li>	2
P10314		<ul><li>RN->GK at 89-90: in allele A*3205<li>S->N at 101: in allele A*3203<li>M->I at 121: in allele A*3204<li>P->S at 129: in allele A*3204<li>L->F at 133: in allele A*3204<li>Q->R at 138: in allele A*3204<li>Q->K at 168: in allele A*3204<li>R->H at 175: in allele A*3202, allele A*3204 and allele A*3206<li>V->E at 176: in allele A*3204<li>L->Q at 180: in allele A*3202<li>E->D at 185: in allele A*3204</ul>										2
P10319		<ul><li>G->E at 86: in allele B*5804<li>II->TL at 118-119: in allele B*5802<li>R->W at 121: in allele B*5802<li>W->L at 171: in allele B*5805<li>V->A at 176: in allele B*5805<li>L->T at 187: in allele B*5805; requires 2 nucleotide substitutions</ul>										2
P10321	3107	<ul><li>E->K at 43: in dbSNP:rs1050438<li>A->E at 73: in dbSNP:rs1050409<li>V->M at 76: in dbSNP:rs1065382<li>K->N at 90: in allele Cw*0701; dbSNP:rs28626310<li>A->T at 97: in dbSNP:rs41543814<li>S->N at 101: in allele Cw*0709; dbSNP:rs2308557<li>N->K at 104: in allele Cw*0709; dbSNP:rs17408553<li>L->F at 119: in allele Cw*0704 and allele Cw*0711: in dbSNP rsrs1071649<li>S->Y at 123: in allele Cw*0701: in dbSNP rsrs1131115<li>Y->H at 137: in dbSNP:rs2308574<li>S->F at 140: in allele Cw*0704 and allele Cw*0711: in dbSNP rsrs713032<li>L->W at 171: in allele Cw*0703; dbSNP:rs1050366<li>L->D at 180: in allele Cw*0704 and allele Cw*0711; requires 2 nucleotide substitutions<li>A->V at 182: in dbSNP:rs1059539<li>T->L at 187: in allele Cw*0703; requires 2 nucleotide substitutions<li>E->K at 201: in allele Cw*0704 and allele Cw0711; dbSNP:rs1131103<li>V->M at 272: in dbSNP:rs1050276<li>V->I at 328: in dbSNP:rs1050118<li>A->V at 330: in dbSNP:rs1050105<li>M->K at 331: in allele Cw*0706: in dbSNP rsrs41542414<li>M->V at 331: in dbSNP:rs1130935<li>A->V at 348: in allele Cw*0706: in dbSNP rsrs41559915<li>T->A at 363: in allele Cw*0711: in dbSNP rsrs1130838</ul>									<li>rs28626310</li><li>rs1130935</li><li>rs1065382</li><li>rs713032</li><li>rs2308557</li><li>rs41543814</li><li>rs2308574</li><li>rs1050438</li><li>rs17408553</li><li>rs1050105</li><li>rs1130838</li><li>rs1050366</li><li>rs1050409</li><li>rs1050118</li><li>rs41559915</li><li>rs41542414</li><li>rs1059539</li><li>rs1131103</li><li>rs1050276</li><li>rs1131115</li><li>rs1071649</li>	2
P10323	49	<ul><li>L->V at 120: in dbSNP:rs1064734<li>F->L at 166: in dbSNP:rs1064735</ul>									<li>rs1064735</li><li>rs1064734</li>	2
P10398	369	<ul><li>M->T at 98: in dbSNP rsrs56197559<li>G->C at 331: in a colorectal adenocarcinoma sample; somatic mutation<li>E->D at 578: in dbSNP rsrs55852926</ul>									<li>rs56197559</li><li>rs55852926</li>	2
P10412	3008	<ul><li>A->V at 128: in a colorectal cancer sample; somatic mutation<li>K->R at 152: in dbSNP:rs2298090</ul>									rs2298090	2
P10415	596	<ul><li>T->S at 7<li>A->T at 43: in dbSNP:rs1800477<li>P->S at 59: in non-Hodgkin lymphoma; somatic mutation<li>V->I at 93: in non-Hodgkin lymphoma; somatic mutation</ul>									rs1800477	2
P10451	6696	<ul><li>S->N at 224: in dbSNP:rs7435825<li>R->H at 301: in dbSNP:rs4660</ul>									<li>rs4660</li><li>rs7435825</li>	2
P10515	1737	<ul><li>A->V at 43: in dbSNP:rs2303436<li>S->F at 98: in dbSNP:rs537057<li>L->F at 99: in dbSNP:rs537060<li>Q->R at 209: in dbSNP:rs11553595<li>D->V at 313: in dbSNP:rs11553592<li>V->A at 318: in dbSNP:rs627441<li>D->N at 451: in dbSNP:rs10891314</ul>									<li>rs2303436</li><li>rs10891314</li><li>rs537060</li><li>rs627441</li><li>rs11553595</li><li>rs11553592</li><li>rs537057</li>	2
P10523	6295	<ul><li>I->V at 76: in dbSNP:rs7565275<li>R->C at 84<li>T->M at 125<li>P->L at 364<li>V->I at 378<li>R->C at 384<li>V->A at 403: in dbSNP:rs1046976<li>V->I at 403: in dbSNP:rs1046974</ul>									<li>rs7565275</li><li>rs1046976</li><li>rs1046974</li>	2
P10586	5792	<ul><li>A->V at 412: in dbSNP:rs1065775<li>Y->C at 450: in dbSNP:rs3748796<li>D->N at 562: in dbSNP:rs3748800</ul>									<li>rs3748796</li><li>rs3748800</li><li>rs1065775</li>	2
P10600	7043	<ul><li>T->M at 60: in dbSNP:rs4252315</ul>									rs4252315	2
P10619	5476	<ul><li>Q->R at 49: in galactosialidosis, MIM: 256540<li>W->R at 65: in galactosialidosis, MIM: 256540<li>S->L at 90: in galactosialidosis, MIM: 256540<li>Y->N at 249: in galactosialidosis; small amount of activity, MIM: 256540<li>Y->C at 395: in galactosialidosis; loss of activity, MIM: 256540<li>F->V at 440: in galactosialidosis, MIM: 256540</ul>								Galactosialidosis [MIM:256540]		2
P10632	1558	<ul><li>R->K at 139: in allele CYP2C8*3; dbSNP:rs11572080<li>E->D at 154: in MP-12<li>N->K at 193: in MP-20<li>I->V at 244: in dbSNP:rs11572102<li>K->R at 249: in MP-12<li>I->M at 264: in allele CYP2C8*4; dbSNP:rs1058930<li>I->F at 269: in allele CYP2C8*2; only found in African-Americans; dbSNP:rs11572103<li>L->S at 390<li>K->R at 399: in allele CYP2C8*3; dbSNP:rs10509681<li>H->L at 411: in MP-20</ul>							P10632		<li>rs1058930</li><li>rs11572103</li><li>rs11572102</li><li>rs11572080</li><li>rs10509681</li>	2
P10635		<ul><li>V->M at 11: in allele CYP2D6*35; dbSNP:rs769258<li>R->H at 26: in allele CYP2D6*21 and allele CYP2D6*46; dbSNP:rs28371696<li>R->C at 28: in allele CYP2D6*22<li>P->S at 34: in allele CYP2D6*10 and allele CYP2D6*14; poor debrisquone metabolism; dbSNP:rs1065852<li>G->R at 42: in allele CYP2D6*12; impaired metabolism of sparteine; dbSNP:rs5030862<li>A->V at 85: in allele CYP2D6*23<li>L->M at 91: in dbSNP:rs28371703<li>H->R at 94: in dbSNP:rs28371704<li>T->I at 107: in allele CYP2D6*17; poor debrisquone metabolism; dbSNP:rs28371706<li>F->I at 120: in dbSNP:rs1135822<li>E->K at 155: in allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; dbSNP:rs28371710<li>G->R at 169: in allele CYP2D6*14; poor debrisquone metabolism<li>G->E at 212: in allele CYP2D6*6B and allele CYP2D6*6C; dbSNP:rs5030866<li>L->P at 231: in dbSNP:rs17002853<li>A->S at 237: in allele CYP2D6*33; dbSNP:rs28371717<li>Missing  at 281: in allele CYP2D6*9<li>R->C at 296: in allele CYP2D6*2, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; dbSNP:rs16947<li>I->L at 297: in allele CYP2D6*24<li>A->G at 300: in dbSNP:rs1058170<li>S->L at 311: in dbSNP:rs1800754<li>H->P at 324: in allele CYP2D6*7; loss of activity; dbSNP:rs5030867<li>R->G at 343: in allele CYP2D6*25<li>R->H at 365: in dbSNP:rs1058172<li>I->T at 369: in allele CYP2D6*26<li>E->K at 410: in allele CYP2D6*27<li>E->K at 418<li>P->A at 469<li>H->Y at 478: in dbSNP:rs28371735<li>S->T at 486: in allele CYP2D6*2, allele CYP2D6*10, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; impaired metabolism of sparteine; dbSNP:rs1135840</ul>							<li>P10635</li><li>Q2XNC8</li><li>Q2XNC9</li>		<li>rs1800754</li><li>rs1058170</li><li>rs1135822</li><li>rs28371735</li><li>rs28371704</li><li>rs28371703</li><li>rs1058172</li><li>rs17002853</li>	2
P10636	4137	<ul><li>R->H at 5: in FTDP17; reduces the ability of tau to promote microtubule assembly and promotes fibril formation in vitro, MIM: 600274<li>R->L at 5: in PSP; delays assembly initiation and lowers the mass of microtubules formed; but the assembly rate is increased compared to normal tau, MIM: 601104<li>D->N at 285: risk factor for progressive supranuclear palsy, MIM: 601104<li>V->A at 289: risk factor for progressive supranuclear palsy, MIM: 601104<li>H->Y at 441: in dbSNP rsrs2258689, MIM: 601104<li>S->P at 447: in dbSNP rsrs10445337, MIM: 601104<li>K->T at 574: in dementia; a dementia resembling Pick disease; reduces the ability to promote microtubule assembly by 70%, MIM: 601104<li>L->V at 583: in FTDP17; less able to promote microtubule assembly than wild-type tau, MIM: 600274<li>G->V at 589: in FTDP17, MIM: 600274<li>N->K at 596: in PPND, MIM: 168610<li>Missing  at 597: in FTDP17, MIM: 168610<li>N->H at 613: in FTDP17; reduced the ability of tau to promote microtubule assembly without having a significant effect on tau filament formation; effects at both the RNA and the protein level, MIM: 600274<li>Missing  at 613: in PSP/atypical PSP; heterozygosity may be a risk factor for both a PSP-like syndrome and Parkinson disease; reduced the ability of tau to promote microtubule assembly without having a significant effect on tau filament formation; effects at both the RNA and the protein level, MIM: 600274<li>P->L at 618: in FTDP17; most common mutation; reduction in the ability to promote microtubule assembly; accelerates aggregation of tau into filaments, MIM: 600274<li>P->S at 618: in FTDP17 and CBD; reduction in the ability to promote microtubule assembly, MIM: 600274<li>G->V at 620: in PSP, MIM: 601104<li>S->N at 622: in FTDP17; minimal parkinsonism; very early age of onset, MIM: 600274<li>K->M at 634: in FTDP17, MIM: 600274<li>S->F at 637: in Pick disease; markedly reduced ability of tau to promote microtubule assembly, MIM: 600274<li>V->M at 654: in FTDP17; ultrastructural and biochemical characteristics indistinguishable from Alzheimer disease; accelerates aggregation of tau into filaments, MIM: 600274<li>E->V at 659: in FTDP17, MIM: 600274<li>S->L at 669: in fatal respiratory hypoventilation; unusual apparent autosomal recessive inheritance; reduced binding to microtubules as well as increased fibrillization and aggregation, MIM: 600274<li>K->I at 686: in Pick disease; 90% reduction in the rate of microtubule assembly, MIM: 600274<li>G->R at 706: in dementia; a dementia resembling Pick disease; in vitro the mutation reduces the ability of tau to promote microtubule assembly by 25 to 30%, MIM: 600274<li>R->W at 723: in FTDP17/Alzheimer disease; accelerates aggregation of tau into filaments; reduces tau phosphorylation in cells compared to both the wild-type and other mutant forms, MIM: 600274</ul>	phosphorylation	GO:0016310	binding	GO:0005488	microtubule	GO:0005874	<li>P43137</li><li>Q99LS3</li><li>P19332</li><li>Q63471</li><li>P44997</li><li>P23132</li><li>P01359</li><li>P07743</li><li>O60542</li><li>O28142</li><li>P05451</li><li>Q5RB83</li><li>O74382</li><li>O82796</li><li>P83145</li><li>O00186</li><li>P10637</li><li>P42941</li><li>P0AGB1</li><li>P0AGB0</li><li>Q58989</li><li>P0AGB2</li><li>Q5M819</li><li>Q2KHU0</li><li>P16525</li><li>Q08731</li><li>O70300</li><li>O70301</li><li>P52758</li><li>P58384</li><li>Q9VSY6</li><li>P10758</li><li>Q96DR5</li><li>P78330</li>	<li>Pallido-ponto-nigral degeneration (PPND) [MIM:168610]</li><li>Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]</li><li>Progressive supranuclear palsy (PSP) [MIM:601104, 260540]</li>	<li>rs2258689</li><li>rs10445337</li>	2
P10643	730	<ul><li>C->R at 128: in dbSNP:rs2271708<li>R->Q at 220: in C7D, MIM: 217070<li>G->R at 379: in C7D, MIM: 217070<li>S->T at 389: in dbSNP:rs1063499, MIM: 217070<li>K->Q at 420: in dbSNP:rs3792646, MIM: 217070<li>R->S at 521: in C7D, MIM: 217070<li>T->P at 587: in dbSNP:rs13157656, MIM: 217070<li>E->Q at 682: in C7D, MIM: 217070<li>R->H at 687: in C7D, MIM: 217070</ul>								Component C7 deficiency (C7D) [MIM:217070]	<li>rs13157656</li><li>rs2271708</li><li>rs1063499</li><li>rs3792646</li>	2
P10644	5573	<ul><li>S->N at 9: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980<li>R->C at 74: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980<li>R->S at 146: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980<li>D->Y at 183: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980<li>A->D at 213: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980<li>G->W at 289: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980</ul>			<li>binding</li><li>PKA</li>	<li>GO:0005488</li><li>GO:0004691</li>				Carney complex type 1 (CNC1) [MIM:160980]		2
P10645	1113	<ul><li>R->Q at 61: in dbSNP:rs3742712<li>E->K at 176: in dbSNP:rs9658654<li>E->D at 264: in dbSNP:rs9658655<li>R->W at 271: in dbSNP:rs9658662<li>A->G at 274: in dbSNP:rs9658663<li>G->S at 315: in dbSNP:rs9658664<li>L->P at 332: in dbSNP:rs9658665<li>D->N at 369: in dbSNP:rs2228575<li>G->S at 382: reduces activity 4.7 fold; dbSNP:rs9658667<li>P->L at 388: increases activity 2.3 fold; dbSNP:rs9658668<li>R->W at 399: in dbSNP:rs729940</ul>									<li>rs3742712</li><li>rs9658654</li><li>rs9658655</li><li>rs2228575</li><li>rs9658662</li><li>rs9658664</li><li>rs9658663</li><li>rs9658665</li><li>rs729940</li><li>rs9658668</li><li>rs9658667</li>	2
P10646	7035	<ul><li>V->M at 292: in dbSNP:rs5940</ul>									rs5940	2
P10696	251	<ul><li>Q->E at 34: in dbSNP:rs1048983<li>L->M at 273: in dbSNP:rs17416141<li>L->R at 316: in dbSNP:rs1048992<li>G->E at 527: in dbSNP:rs1048999</ul>									<li>rs1048992</li><li>rs1048983</li><li>rs1048999</li><li>rs17416141</li>	2
P10721	3815	<ul><li>V->I at 532: in dbSNP rsrs55792975<li>M->L at 541: in dbSNP rsrs3822214<li>Missing  at 550-558: in GIST; somatic mutation<li>K->I at 550: in GIST; somatic mutation: in dbSNP rsrs28933968, MIM: 606764<li>Missing  at 551-555: in GIST; somatic mutation, MIM: 606764<li>Missing  at 559-560: in GIST; somatic mutation, MIM: 606764<li>V->A at 559: in GIST, MIM: 606764<li>V->D at 559: in GIST; somatic mutation, MIM: 606764<li>Missing  at 559: in GIST, MIM: 606764<li>E->K at 583: in piebaldism, MIM: 172800<li>F->C at 584: in piebaldism: in dbSNP rsrs28933371, MIM: 172800<li>F->L at 584: in piebaldism, MIM: 172800<li>G->R at 601: in piebaldism, MIM: 172800<li>L->P at 656: in piebaldism, MIM: 172800<li>G->R at 664: in piebaldism, MIM: 172800<li>C->S at 691: in dbSNP rsrs35200131, MIM: 172800<li>S->N at 715: in dbSNP rsrs56094246, MIM: 172800<li>D->N at 737: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 172800<li>R->G at 791: in piebaldism, MIM: 172800<li>R->G at 796: in piebaldism; with sensorineural deafness, MIM: 172800<li>R->W at 804: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 172800<li>G->V at 812: in piebaldism, MIM: 172800<li>D->F at 816: in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated, MIM: 172800<li>D->H at 816: in GCT; somatic mutation; constitutively activated: in dbSNP rsrs28933969, MIM: 172800<li>D->V at 816: in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ, MIM: 172800<li>D->Y at 816: in acute myeloid leukemia, mastocytosis and TGCT; somatic mutation; constitutively activated, MIM: 172800<li>D->G at 820: in mast cell disease; systemic, MIM: 172800<li>N->K at 822: in TGCT; somatic mutation, MIM: 172800<li>A->P at 829: in TGCT; somatic mutation, MIM: 172800<li>E->K at 839: in mastocytosis; somatic mutation; dominant negative mutation; loss of autophosphorylation, MIM: 172800<li>T->P at 847: in piebaldism, MIM: 172800<li>Missing  at 893-896: in piebaldism; severe, MIM: 172800</ul>	autophosphorylation	GO:0046777					<li>P27623</li><li>Q8RKI6</li><li>O75970</li>	<li>Gastrointestinal stromal tumor (GIST) [MIM:606764]</li><li>Piebaldism [MIM:172800]</li>	<li>rs28933968</li><li>rs3822214</li><li>rs28933969</li><li>rs55792975</li><li>rs35200131</li><li>rs28933371</li><li>rs56094246</li>	2
P10745	5949	<ul><li>R->H at 530: in a colorectal cancer sample; somatic mutation<li>V->M at 884: in dbSNP:rs11204213</ul>									rs11204213	2
P10746	7390	<ul><li>V->F at 3: in CEP; no residual activity, MIM: 263700<li>L->F at 4: in CEP, MIM: 263700<li>Y->C at 19: in CEP, MIM: 263700<li>S->P at 47: in CEP; less than 3% wild-type activity; severe cutaneous lesions, MIM: 263700<li>P->L at 53: in CEP; no detectable activity; severe phenotype, MIM: 263700<li>T->A at 62: in CEP; no detectable activity: in dbSNP rsrs28941775, MIM: 263700<li>A->V at 66: in CEP; residual activity; mild phenotype: in dbSNP rsrs28941774, MIM: 263700<li>A->T at 69: in CEP; less than 2% wild-type activity; moderately-severe phenotype, MIM: 263700<li>C->R at 73: in CEP; frequent mutation in Western countries; no detectable activity; severe phenotype, MIM: 263700<li>V->F at 82: in CEP; high residual activity; mild phenotype, MIM: 263700<li>V->A at 99: in CEP, MIM: 263700<li>A->V at 104: in CEP; residual activity, MIM: 263700<li>K->R at 124: in dbSNP:rs17153561, MIM: 263700<li>I->T at 129: in CEP; no residual activity, MIM: 263700<li>V->G at 171: in dbSNP:rs17173752, MIM: 263700<li>G->R at 188: in CEP; less than 5% wild-type activity, MIM: 263700<li>G->W at 188: in CEP; less than 2% wild-type activity; mild phenotype, MIM: 263700<li>EL->HIQSQAQSQAQ at 210-211: in CEP, MIM: 263700<li>S->P at 212: in CEP; no residual activity, MIM: 263700<li>I->S at 219: in CEP; less than 2% wild-type activity; moderately-severe phenotype, MIM: 263700<li>G->S at 225: in CEP, MIM: 263700<li>T->M at 228: in CEP; no detectable activity, MIM: 263700</ul>								Congenital erythropoietic porphyria (CEP) [MIM:263700]	<li>rs17173752</li><li>rs17153561</li><li>rs28941774</li><li>rs28941775</li>	2
P10767	2251	<ul><li>V->A at 36: in dbSNP:rs11613495<li>A->V at 63: in dbSNP:rs17183529<li>D->V at 174: in dbSNP:rs7961645<li>R->W at 191: in dbSNP:rs17183778</ul>									<li>rs11613495</li><li>rs7961645</li><li>rs17183778</li><li>rs17183529</li>	2
P10768	2098	<ul><li>G->E at 190: in allele ESD*2; dbSNP:rs9778<li>G->D at 257: in dbSNP:rs15303</ul>							<li>Q9GJT2</li><li>P10768</li>		<li>rs15303</li><li>rs9778</li>	2
P10809	3329	<ul><li>D->G at 29: in HLD4; transfection with the mutant protein impairs cell growth that worsens with increasing temperature, MIM: 612233<li>V->I at 98: in SPG13, MIM: 605280</ul>								<li>Hypomyelinating leukodystrophy type 4 (HLD4) [MIM:612233]</li><li>Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]</li>		2
P10826	5915	<ul><li>V->I at 90: in a colorectal cancer sample; somatic mutation</ul>										2
P10828	7068	<ul><li>D->G at 216: in dbSNP:rs9865746<li>A->T at 234: in GTHR, MIM: 188570<li>R->W at 243: in GTHR, MIM: 188570<li>R->H at 316: in PRTH, MIM: 145650<li>A->T at 317: in GTHR, MIM: 188570<li>R->C at 320: in GTHR, MIM: 188570<li>R->H at 320: in GTHR, MIM: 188570<li>G->R at 332: in GTHR: in dbSNP rsrs28999969, MIM: 188570<li>T->I at 337: in dbSNP:rs1054624, MIM: 188570<li>Missing  at 337: in GTHR, MIM: 188570<li>R->W at 338: in GTHR, MIM: 188570<li>Q->H at 340: in GTHR, MIM: 188570<li>K->I at 342: in GTHR, MIM: 188570<li>G->R at 345: in GTHR, MIM: 188570<li>G->S at 345: in GTHR, MIM: 188570<li>G->V at 345: in GTHR: in dbSNP rsrs28999970, MIM: 188570<li>G->E at 347: in GTHR: in dbSNP rsrs28999971, MIM: 188570<li>V->E at 348: in GTHR, MIM: 188570<li>T->I at 426: in GTHR, MIM: 188570<li>R->H at 438: in GTHR, MIM: 188570<li>M->V at 442: in GTHR, MIM: 188570<li>K->E at 443: in GTHR, MIM: 188570<li>C->R at 446: in GTHR, MIM: 188570<li>P->H at 453: in GTHR, MIM: 188570<li>P->S at 453: in GTHR, MIM: 188570<li>P->T at 453: in GTHR; dbSNP:rs28933408, MIM: 188570</ul>								<li>Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]</li><li>Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]</li>	<li>rs28999969</li><li>rs28933408</li><li>rs1054624</li><li>rs9865746</li><li>rs28999970</li><li>rs28999971</li>	2
P10909	1191	<ul><li>N->H at 317: in dbSNP:rs9331936<li>D->N at 328: in dbSNP:rs9331938<li>S->L at 396: in dbSNP:rs13494</ul>									<li>rs9331936</li><li>rs13494</li><li>rs9331938</li>	2
P10912	2690	<ul><li>C->S at 56: in Laron dwarfism, MIM: 262500<li>S->L at 58: in Laron dwarfism, MIM: 262500<li>E->K at 62: in short stature; idiopathic autosomal, MIM: 604271<li>W->R at 68: in Laron dwarfism, MIM: 262500<li>R->K at 89: in Laron dwarfism, MIM: 262500<li>F->S at 114: in Laron dwarfism; loss of ability to bind ligand, MIM: 262500<li>V->A at 143: in Laron dwarfism, MIM: 262500<li>P->Q at 149: in Laron dwarfism; disrupts GH binding, MIM: 262500<li>V->D at 162: in Laron dwarfism, MIM: 262500<li>V->F at 162: in dbSNP:rs6413484, MIM: 262500<li>V->I at 162: in short stature; idiopathic autosomal, MIM: 604271<li>D->H at 170: in Laron dwarfism; abolishes receptor homodimerization, MIM: 262500<li>I->T at 171: in Laron dwarfism; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions, MIM: 262500<li>Q->P at 172: in Laron dwarfism; almost completely abolishes GH-binding at cell surface and in membrane fractions, MIM: 262500<li>V->G at 173: in Laron dwarfism; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions, MIM: 262500<li>R->C at 179: in Laron dwarfism and short stature; idiopathic autosomal, MIM: 604271<li>R->H at 179: in dbSNP:rs6181, MIM: 604271<li>Y->C at 226: in Laron dwarfism, MIM: 262500<li>R->G at 229: in Laron dwarfism, MIM: 262500<li>R->H at 229: in short stature; idiopathic autosomal; dbSNP:rs6177, MIM: 604271<li>E->D at 242: in short stature; idiopathic autosomal: in dbSNP rsrs45588036, MIM: 604271<li>S->I at 244: in Laron dwarfism, MIM: 262500<li>D->N at 262: in Laron dwarfism, MIM: 262500<li>C->F at 440: in Laron dwarfism; dbSNP:rs6182, MIM: 262500<li>E->K at 465: in dbSNP:rs34283856, MIM: 262500<li>P->T at 495: in dbSNP:rs6183, MIM: 262500<li>I->L at 544: polymorphism with a modifier effect on plasma HDL cholesterol levels in familial hypercholesterolemia patients; dbSNP:rs6180, MIM: 262500<li>P->T at 579: in dbSNP:rs6184, MIM: 262500</ul>			binding	GO:0005488	<li>membrane fractions</li><li>cell surface</li>	<li>GO:0005624</li><li>GO:0009928,GO:0009986</li>		<li>Short stature [MIM:604271]</li><li>Laron dwarfism [MIM:262500]</li>	<li>rs6184</li><li>rs45588036</li><li>rs6177</li><li>rs6413484</li><li>rs34283856</li><li>rs6181</li><li>rs6180</li><li>rs6183</li><li>rs6182</li>	2
P10915	1404	<ul><li>N->S at 281: in dbSNP:rs6864342<li>R->H at 333: in a colorectal cancer sample; somatic mutation</ul>									rs6864342	2
P10916	4633	<ul><li>A->T at 13: in MVC2, MIM: 608758<li>F->L at 18: in CMH10: in dbSNP rsrs28932774, MIM: 608758<li>E->K at 22: in CMH10 and MVC2, MIM: 608758<li>G->R at 57: in dbSNP:rs2428140, MIM: 608758<li>R->Q at 58: in CMH10, MIM: 608758<li>P->A at 95: in MVC2, MIM: 608758<li>D->V at 166: in CMH10, MIM: 608758</ul>								<li>Cardiomyopathy hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]</li><li>Cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]</li>	<li>rs28932774</li><li>rs2428140</li>	2
P10997	3375	<ul><li>S->G at 53: in dbSNP:rs1800203</ul>									rs1800203	2
P11021	3309	<ul><li>N->H at 543: in dbSNP rsrs35356639</ul>									rs35356639	2
P11047	3915	<ul><li>I->V at 458: in dbSNP:rs20563<li>E->K at 731: in dbSNP:rs2230157<li>L->P at 888: in dbSNP:rs20558<li>R->H at 1116: in a colorectal cancer sample; somatic mutation<li>R->Q at 1121: in dbSNP:rs20559</ul>									<li>rs20563</li><li>rs20559</li><li>rs20558</li><li>rs2230157</li>	2
P11055	4621	<ul><li>T->I at 178: in DA2A and DA2B, MIM: 601680<li>S->F at 261: in DA2B, MIM: 601680<li>S->C at 292: in DA2B, MIM: 601680<li>E->K at 375: in DA2B, MIM: 601680<li>E->G at 498: in DA2A, MIM: 193700<li>D->Y at 517: in DA2B, MIM: 601680<li>Y->S at 583: in DA2A, MIM: 193700<li>R->C at 672: in DA2A, MIM: 193700<li>R->H at 672: in DA2A, MIM: 193700<li>G->V at 769: in DA2B, MIM: 601680<li>V->D at 825: in DA2A, MIM: 193700<li>K->E at 838: in DA2B, MIM: 601680<li>Missing  at 841: in DA2B, MIM: 601680<li>R->C at 1137: in dbSNP:rs12941197, MIM: 601680<li>T->A at 1192: in dbSNP:rs2285477, MIM: 601680<li>D->A at 1622: in DA2B, MIM: 601680<li>A->V at 1637: in DA2B: in dbSNP rsrs34165480, MIM: 601680</ul>								<li>Distal arthrogryposis type 2B (DA2B) [MIM:601680]</li><li>Distal arthrogryposis type 2A (DA2A) [MIM:193700]</li>	<li>rs34165480</li><li>rs12941197</li><li>rs2285477</li>	2
P11086	5409	<ul><li>N->S at 9: in dbSNP:rs11569781<li>T->A at 98: lower activity levels than wild-type; dbSNP:rs36060376<li>R->C at 112: in dbSNP:rs34530498<li>A->T at 175: in dbSNP:rs34341496<li>S->C at 188: in dbSNP:rs5639<li>L->H at 211: in dbSNP:rs5640<li>L->Q at 217: in dbSNP:rs5641<li>R->H at 254: in dbSNP:rs5642<li>W->R at 276: in dbSNP:rs5643</ul>									<li>rs5641</li><li>rs5640</li><li>rs5639</li><li>rs34341496</li><li>rs36060376</li><li>rs5642</li><li>rs5643</li><li>rs34530498</li><li>rs11569781</li>	2
P11117	53	<ul><li>R->Q at 29: in dbSNP:rs2167079<li>S->F at 320: in dbSNP:rs34425282<li>V->I at 402: in dbSNP:rs4647764</ul>									<li>rs2167079</li><li>rs34425282</li><li>rs4647764</li>	2
P11137	4133	<ul><li>A->G at 82: in dbSNP:rs2271251<li>E->G at 179: in dbSNP:rs6749066<li>E->D at 277: in a colorectal cancer sample; somatic mutation<li>R->K at 423: in dbSNP:rs741006<li>P->L at 705: in a colorectal cancer sample; somatic mutation<li>H->L at 976: in dbSNP:rs13425372<li>G->R at 991: in dbSNP:rs35927101<li>M->V at 1099: in dbSNP:rs17745550</ul>									<li>rs13425372</li><li>rs35927101</li><li>rs2271251</li><li>rs17745550</li><li>rs6749066</li><li>rs741006</li>	2
P11142	3312	<ul><li>D->Y at 32: in dbSNP:rs11551602<li>F->L at 459: in dbSNP:rs11551598</ul>									<li>rs11551598</li><li>rs11551602</li>	2
P11150		<ul><li>V->M at 95: in dbSNP:rs6078<li>V->VHYTVAV at 134: in HL deficiency<li>N->S at 215: in dbSNP:rs6083<li>S->F at 289: in HL deficiency, MIM: 151670<li>V->I at 342, MIM: 151670<li>L->F at 356: in dbSNP:rs3829462, MIM: 151670<li>T->M at 405: in HL deficiency, MIM: 151670<li>D->A at 409, MIM: 151670<li>S->N at 440: in dbSNP:rs6079, MIM: 151670</ul>								Hepatic lipase deficiency (HL deficiency) [MIM:151670]	<li>rs6083</li><li>rs6078</li><li>rs6079</li><li>rs3829462</li>	2
P11161	1959	<ul><li>I->N at 268: in CHN, MIM: 605253<li>D->V at 355: in CMT1D, MIM: 607678<li>R->W at 359: in DSS and CMT1D; associated with A-136 in the GJB1 gene in a DSS Korean girl, MIM: 145900<li>R->C at 381: in CMT1D, MIM: 607678<li>R->H at 381: in CMT1D, MIM: 607678<li>SD->RY at 382-383: in CHN, MIM: 607678<li>D->Y at 383: in CMT1D, MIM: 607678<li>R->W at 409: in CMT1D, MIM: 607678</ul>							<li>P15882</li><li>Q60HF7</li><li>O18968</li><li>P08034</li><li>Q17QN0</li><li>Q6WGK6</li><li>Q92570</li>	<li>Dejerine-Sottas syndrome (DSS) [MIM:145900]</li><li>Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]</li><li>Congenital hypomyelination neuropathy (CHN) [MIM:605253]</li>		2
P11166	6513	<ul><li>N->I at 34: in GLUT1 deficiency<li>N->S at 34: in GLUT1 deficiency; 55% of wild-type glucose uptake activity<li>S->F at 66: in GLUT1 deficiency<li>G->D at 91: in GLUT1 deficiency; significantly decreases the transport of 3-O-methyl-D-glucose<li>R->C at 126: in GLUT1 deficiency<li>R->H at 126: in GLUT1 deficiency; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity<li>R->L at 126: in GLUT1 deficiency; compound heterozygote with V-256<li>G->S at 130: in GLUT1 deficiency; 75% of wild-type glucose uptake activity<li>E->K at 146: in GLUT1 deficiency<li>R->C at 153: in GLUT1 deficiency; 44% of wild-type glucose uptake activity<li>Missing  at 169: in GLUT1 deficiency; 48% of wild-type glucose uptake activity<li>K->E at 256: in GLUT1 deficiency; compound heterozygote with L-126<li>A->T at 275: in DYT18; the mutation decreases glucose transport but does not affect cation permeability, MIM: 612126<li>Missing  at 282-285: in DYT18; accompanied by hemolytic anemia and altered erythrocyte ion concentrations; the mutation decreases glucose transport and causes a cation leak that alteres intracellular concentrations of sodium potassium and calcium, MIM: 612126<li>T->M at 295: in GLUT1 deficiency; 75% of wild-type glucose uptake activity, MIM: 612126<li>T->I at 310: in GLUT1 deficiency, MIM: 612126<li>G->S at 314: in DYT18; the mutation decreases glucose transport but does not affect cation permeability, MIM: 612126<li>R->W at 333: in GLUT1 deficiency; 43% of wild-type glucose uptake activity, MIM: 612126</ul>	<li>glucose transport</li><li>transport</li>	<li>GO:0015758</li><li>GO:0006810</li>			intracellular	GO:0005622	<li>P79365</li><li>P13355</li><li>P11166</li><li>P20303</li><li>P46896</li><li>P27674</li>	Dystonia type 18 (DYT18) [MIM:612126]		2
P11168	6514	<ul><li>P->L at 68: in dbSNP:rs7637863<li>V->I at 101: in dbSNP:rs1800572<li>T->I at 110: in dbSNP:rs5400<li>V->I at 197: in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes<li>L->P at 389: in FBS, MIM: 227810<li>I->T at 404: in dbSNP:rs2229608, MIM: 227810<li>P->L at 417: in FBS, MIM: 227810<li>V->E at 423: in FBS: in dbSNP rsrs28928874, MIM: 227810<li>L->V at 478: in dbSNP:rs5397, MIM: 227810</ul>	transport	GO:0006810					<li>P62706</li><li>Q9NRD0</li><li>Q9HAH7</li>	Fanconi-Bickel syndrome (FBS) [MIM:227810]	<li>rs28928874</li><li>rs2229608</li><li>rs5400</li><li>rs5397</li><li>rs1800572</li><li>rs7637863</li>	2
P11169	6515	<ul><li>V->L at 85: in dbSNP:rs17728193</ul>									rs17728193	2
P11171	2035	<ul><li>V->I at 214</ul>										2
P11172	7372	<ul><li>S->G at 30: in dbSNP:rs17843776<li>R->G at 96: in HOA, MIM: 258900<li>V->G at 109: in HOA, MIM: 258900<li>G->A at 213: in dbSNP:rs1801019, MIM: 258900<li>G->R at 429: in HOA, MIM: 258900<li>I->V at 446: in dbSNP:rs3772809, MIM: 258900</ul>							<li>P51019</li><li>P51017</li><li>P51018</li><li>P51015</li><li>P51016</li><li>Q51983</li><li>P51014</li><li>P51020</li>	Hereditary orotic aciduria (HOA) [MIM:258900]	<li>rs3772809</li><li>rs1801019</li><li>rs17843776</li>	2
P11177	5162	<ul><li>L->V at 31<li>Y->C at 132: in PDHE1 deficiency; dbSNP:rs28935769, MIM: 312170<li>P->S at 344: in PDHE1 deficiency; dbSNP:rs28933391, MIM: 312170</ul>								Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	<li>rs28933391</li><li>rs28935769</li>	2
P11182	1629	<ul><li>I->M at 98: in MSUD2, MIM: 248600<li>F->C at 276: in MSUD2, MIM: 248600<li>G->S at 384: in MSUD2; dbSNP:rs12021720, MIM: 248600</ul>								Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	rs12021720	2
P11215	3684	<ul><li>R->H at 77: influences susceptibility to SLE; dbSNP:rs1143679<li>M->T at 441: in dbSNP:rs11861251<li>A->V at 858: in dbSNP:rs1143683<li>P->S at 1146: in dbSNP:rs1143678</ul>									<li>rs1143679</li><li>rs11861251</li><li>rs1143678</li><li>rs1143683</li>	2
P11216	5834	<ul><li>A->S at 303: in dbSNP:rs2228976<li>D->N at 502: in dbSNP:rs2227891</ul>									<li>rs2228976</li><li>rs2227891</li>	2
P11217	5837	<ul><li>L->P at 116: in GSD5, MIM: 232600<li>R->W at 194: in GSD5, MIM: 232600<li>G->S at 205: in GSD5, MIM: 232600<li>L->P at 292: in GSD5; rare mutation, MIM: 232600<li>E->K at 349: in GSD5, MIM: 232600<li>L->P at 397: in GSD5, MIM: 232600<li>T->N at 488: in GSD5, MIM: 232600<li>K->T at 543: in GSD5, MIM: 232600<li>R->W at 602: in GSD5, MIM: 232600<li>E->K at 655: in GSD5, MIM: 232600<li>A->D at 660: in GSD5, MIM: 232600<li>Q->E at 666: in GSD5, MIM: 232600<li>N->Y at 685: in GSD5, MIM: 232600<li>G->R at 686: in GSD5, MIM: 232600<li>A->P at 687: in GSD5, MIM: 232600<li>A->V at 704: in GSD5, MIM: 232600<li>Missing  at 709: in GSD5; common in Japanese patients, MIM: 232600<li>W->R at 798: in GSD5, MIM: 232600</ul>								Glycogen storage disease type 5 (GSD5) [MIM:232600]		2
P11226	4153	<ul><li>T->A at 24: in Chinese<li>R->C at 52: in 0.05% of European and African populations; dbSNP:rs5030737<li>G->D at 54: in Caucasian and Chinese populations; dbSNP:rs1800450<li>G->E at 57: in West African population; dbSNP:rs1800451<li>N->Y at 214: in dbSNP:rs12260094</ul>									<li>rs1800451</li><li>rs12260094</li><li>rs1800450</li><li>rs5030737</li>	2
P11230	1140	<ul><li>E->G at 32: in dbSNP:rs17856697<li>L->M at 285: in SCCMS, MIM: 601462<li>V->M at 289: in SCCMS, MIM: 601462<li>Missing  at 449-451: in ACHRDCMS; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits, MIM: 601462</ul>								Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	rs17856697	2
P11245	10	<ul><li>L->I at 24: in dbSNP:rs45477599<li>R->Q at 64: in allele NAT2*14A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14D, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; a slow acetylator; dbSNP:rs1801279<li>R->W at 64: in allele NAT2*19; dbSNP:rs1805158<li>I->T at 114: in allele NAT2*5A, allele NAT2*5B, allele NAT2*5C, allele NAT2*5D, allele NAT2*5E, allele NAT2*5F, allele NAT2*14B and allele NAT2*14E; a slow acetylator; dbSNP:rs1801280<li>D->N at 122: in dbSNP:rs4986996<li>L->V at 135: in dbSNP:rs12720065<li>L->F at 137: in dbSNP:rs4986997<li>Q->P at 145: in allele NAT2*17<li>T->M at 193<li>R->Q at 197: in allele NAT2*5E, allele NAT2*6A, allele NAT2*6B, allele NAT2*6C, allele NAT2*6D and allele NAT2*14D; a slow acetylator; dbSNP:rs1799930<li>Y->H at 208: in dbSNP:rs56387565<li>P->L at 228: in dbSNP:rs45518335<li>K->R at 268: in allele NAT2*5B, allele NAT2*5C, allele NAT2*5F, allele NAT2*6C, allele NAT2*12A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; dbSNP:rs1208<li>K->T at 282: in allele NAT2*18; dbSNP:rs56054745<li>G->E at 286: in allele NAT2*7A and allele NAT2*7B; a slow acetylator; dbSNP:rs1799931</ul>							<li>P11246</li><li>P11245</li><li>P37293</li><li>Q7YRG5</li><li>P50293</li><li>Q6N069</li>		<li>rs1801279</li><li>rs4986997</li><li>rs56054745</li><li>rs4986996</li><li>rs45477599</li><li>rs1801280</li><li>rs1799931</li><li>rs12720065</li><li>rs45518335</li><li>rs1799930</li><li>rs56387565</li><li>rs1805158</li><li>rs1208</li>	2
P11274	613	<ul><li>S->P at 400: in a bladder transitional cell carcinoma sample; somatic mutation<li>I->M at 413: in dbSNP rsrs56321828<li>K->T at 558: in dbSNP:rs4437065<li>D->E at 752: in dbSNP rsrs12484731<li>N->S at 796: in dbSNP:rs140504<li>Y->C at 910: in dbSNP rsrs35537221<li>V->I at 949: in dbSNP rsrs2229038<li>E->K at 1037: in dbSNP:rs16999516<li>V->M at 1091<li>T->A at 1096<li>A->G at 1104<li>D->N at 1106<li>T->M at 1127: in dbSNP:rs35812689<li>A->T at 1149<li>E->K at 1161<li>K->E at 1187<li>V->M at 1189: in dbSNP rsrs55816482<li>A->G at 1204: in dbSNP rsrs56265970<li>W->R at 1235: in dbSNP rsrs55719322</ul>									<li>rs16999516</li><li>rs2229038</li><li>rs140504</li><li>rs4437065</li><li>rs35812689</li><li>rs55719322</li><li>rs55816482</li><li>rs12484731</li><li>rs35537221</li><li>rs56265970</li><li>rs56321828</li>	2
P11277	6710	<ul><li>W->R at 202: in HS; Kissimmee<li>S->N at 439: in dbSNP:rs229587<li>S->I at 613: in dbSNP:rs3742601<li>N->D at 1151: in dbSNP:rs77806<li>H->R at 1374: in dbSNP:rs10132778<li>R->Q at 1403: in dbSNP:rs17180350<li>G->R at 1408: in dbSNP:rs17245552<li>A->G at 2018: in EL3; Cagliary, MIM: 182870<li>S->P at 2019: in EL3; Providence, MIM: 182870<li>A->V at 2023: in EL3; Paris, MIM: 182870<li>W->R at 2024: in EL3; Linguere, MIM: 182870<li>L->R at 2025: in EL3; Buffalo, MIM: 182870<li>A->P at 2053: in EL3; Kayes, MIM: 182870</ul>								Elliptocytosis type 3 (EL3) [MIM:182870]	<li>rs10132778</li><li>rs17245552</li><li>rs77806</li><li>rs3742601</li><li>rs229587</li><li>rs17180350</li>	2
P11279	3916	<ul><li>I->T at 309: in dbSNP:rs9577230</ul>									rs9577230	2
P11309	5292	<ul><li>Y->H at 144: in a colorectal adenocarcinoma sample; somatic mutation<li>E->Q at 215<li>E->K at 226<li>E->D at 233</ul>										2
P11310	34	<ul><li>R->C at 53: in MCAD deficiency, MIM: 201450<li>Y->H at 67: in MCAD deficiency; mild, MIM: 201450<li>I->T at 78: in MCAD deficiency, MIM: 201450<li>Missing  at 115-116: in MCAD deficiency, MIM: 201450<li>C->Y at 116: in MCAD deficiency, MIM: 201450<li>T->I at 121: in MCAD deficiency, MIM: 201450<li>P->R at 132: in a breast cancer sample; somatic mutation, MIM: 201450<li>M->I at 149: in MCAD deficiency, MIM: 201450<li>T->A at 193: in MCAD deficiency; the thermostability is markedly decreased, MIM: 201450<li>G->R at 195: in MCAD deficiency, MIM: 201450<li>R->L at 206: in MCAD deficiency, MIM: 201450<li>C->R at 244: in MCAD deficiency, MIM: 201450<li>S->L at 245: in MCAD deficiency, MIM: 201450<li>G->R at 267: in MCAD deficiency, MIM: 201450<li>R->T at 281: in MCAD deficiency; mild or benign clinical phenotype, MIM: 201450<li>G->R at 310: in MCAD deficiency, MIM: 201450<li>M->T at 326: in MCAD deficiency, MIM: 201450<li>K->E at 329: in MCAD deficiency; most common variant, MIM: 201450<li>S->R at 336: in MCAD deficiency, MIM: 201450<li>Y->C at 352: in MCAD deficiency, MIM: 201450<li>I->T at 375: in MCAD deficiency, MIM: 201450</ul>							<li>Q8HXY8</li><li>P45952</li><li>P11310</li><li>Q9VSA3</li><li>Q22347</li><li>P41367</li><li>P08503</li>	Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]		2
P11362	2260	<ul><li>R->S at 22: in dbSNP:rs17175750<li>G->S at 48: in IHH, MIM: 146110<li>N->K at 77, MIM: 146110<li>R->C at 78: in KAL2, MIM: 147950<li>G->D at 97: in KAL2, MIM: 147950<li>Y->C at 99: in KAL2, MIM: 147950<li>C->F at 101: in KAL2, MIM: 147950<li>V->I at 102: in KAL2: in dbSNP rsrs55642501, MIM: 147950<li>S->L at 125: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 147950<li>D->A at 129: in KAL2, MIM: 147950<li>A->S at 167: in KAL2; with cleft palate, corpus callosum agenesis, unilateral deafness and fusion of fourth and fifth metacarpal bones, MIM: 147950<li>C->S at 178: in KAL2; with severe ear anomalies, MIM: 147950<li>W->G at 213: in dbSNP:rs17851623, MIM: 147950<li>D->H at 224: in KAL2, MIM: 147950<li>G->D at 237: in KAL2, MIM: 147950<li>G->S at 237: in IHH/KAL2; also found in a family member with isolated anosmia; may impair proper folding, MIM: 147950<li>L->P at 245: in KAL2, MIM: 147950<li>R->W at 250: in KAL2, MIM: 147950<li>P->R at 252: in PS; seems to be a gain of function, MIM: 101600<li>P->T at 252: in a lung bronchoalveolar carcinoma sample; somatic mutation, MIM: 101600<li>R->Q at 254: in KAL2, MIM: 147950<li>G->D at 270: in KAL2, MIM: 147950<li>V->M at 273: in KAL2, MIM: 147950<li>E->G at 274: in KAL2; also found in a family member with isolated anosmia, MIM: 147950<li>C->Y at 277: in KAL2, MIM: 147950<li>P->R at 283: in KAL2, MIM: 147950<li>I->T at 300: in non-syndromic trigonocephaly, MIM: 190440<li>N->I at 330: in OGD, MIM: 166250<li>S->C at 332: in KAL2, MIM: 147950<li>Y->C at 339: in KAL2, MIM: 147950<li>A->V at 343: in KAL2, MIM: 147950<li>S->C at 346: in KAL2; also found in a family member with isolated anosmia, MIM: 147950<li>P->L at 366: in IHH/KAL2, MIM: 147950<li>Y->C at 374: in OGD; elevated basal activity and increased FGF2-mediated activity, MIM: 166250<li>C->R at 381: in OGD, MIM: 166250<li>A->T at 520: in KAL2, MIM: 147950<li>I->V at 538: in KAL2, MIM: 147950<li>V->M at 607: in KAL2; with bimanual synkinesis, MIM: 147950<li>H->R at 621: in KAL2, MIM: 147950<li>R->G at 622: in KAL2; with severe ear anomalies, MIM: 147950<li>R->Q at 622: in KAL2, MIM: 147950<li>V->L at 664: in a lung large cell carcinoma sample; somatic mutation, MIM: 147950<li>W->R at 666: in KAL2; with cleft palate, MIM: 147950<li>S->F at 685: in KAL2, MIM: 147950<li>G->R at 687: in KAL2, MIM: 147950<li>I->F at 693: in KAL2, MIM: 147950<li>G->R at 703: in KAL2, MIM: 147950<li>G->S at 703: in KAL2, MIM: 147950<li>M->R at 719: in KAL2, MIM: 147950<li>P->H at 722: in IHH; associated with K-724; also found in a family member with isolated anosmia; reduced tyrosine kinase activity, MIM: 146110<li>P->S at 722: in KAL2, MIM: 147950<li>N->K at 724: in IHH; associated with H-722; also found in a family member with isolated anosmia; reduced tyrosine kinase activity, MIM: 146110<li>P->S at 745: in KAL2, MIM: 147950<li>L->V at 769: in dbSNP:rs2956723, MIM: 147950<li>P->S at 772: in KAL2; with cleft palate, unilateral absence of nasal cartilage, iris coloboma: in dbSNP rsrs56234888, MIM: 147950<li>V->I at 795: in KAL2; also found in a family member with isolated anosmia, MIM: 147950<li>G->R at 818: in dbSNP:rs17182456, MIM: 147950<li>R->C at 822: in dbSNP:rs17182463, MIM: 147950</ul>			kinase activity	GO:0016301			<li>Q98938</li><li>P79860</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>Q60487</li><li>P20003</li><li>P09038</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P48798</li><li>P48800</li><li>P48799</li><li>P97812</li><li>P79711</li><li>P03969</li><li>Q91612</li><li>P79693</li>	<li>Kallmann syndrome type 2 (KAL2) [MIM:147950]</li><li>Osteoglophonic dysplasia (OGD) [MIM:166250]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li><li>Non-syndromic trigonocephaly [MIM:190440]</li><li>Pfeiffer syndrome (PS) [MIM:101600]</li>	<li>rs17182456</li><li>rs17175750</li><li>rs17182463</li><li>rs2956723</li><li>rs55642501</li><li>rs17851623</li><li>rs56234888</li>	2
P11387	7150	<ul><li>G->S at 214: in dbSNP:rs6029542<li>K->R at 326: in breast cancer; somatic mutation<li>M->T at 370: in CPT-resistant leukemia<li>D->G at 533: in CPT-resistant leukemia<li>N->S at 722: in CPT-resistant leukemia<li>T->A at 729: in CPT-resistant lung cancer</ul>							<li>Q56148</li><li>P56872</li>		rs6029542	2
P11388	7153	<ul><li>R->Q at 450: in teniposide <li>R->K at 487: in amsacrine resistant cells<li>T->K at 1324: in dbSNP:rs28969502<li>G->D at 1386: in dbSNP:rs34300454<li>A->S at 1515: in dbSNP:rs11540720</ul>									<li>rs11540720</li><li>rs34300454</li><li>rs28969502</li>	2
P11413	2539	<ul><li>V->L at 12: in Sinnai<li>H->R at 32: in CSNA; Gahoe; class III; frequent in Chinese<li>Missing  at 35: in CNSHA; Sunderland; class I<li>A->G at 44: in Orissa; class III; frequent in Indian tribal populations<li>I->T at 48: in Aures; class II<li>D->N at 58: in Metaponto; class III<li>V->M at 68: in A: in dbSNP rsrs1050828<li>Y->H at 70: in Namoru; 4% activity<li>L->P at 75: in Swansea; class I<li>R->C at 81: in Konan/Ube; class III<li>R->H at 81: in Lagosanto; class III<li>S->C at 106: in Vancouver; class I<li>N->D at 126: in A: in dbSNP rsrs1050829<li>L->P at 128: in Vanua Lava; 4% activity<li>G->V at 131: in Chinese-4<li>E->K at 156: in Ilesha; class III<li>G->D at 163: in Plymouth; class I<li>G->S at 163: in Mahidol; class III<li>N->D at 165: in Chinese-3; class II<li>R->H at 166: in Naone; 1% activity<li>D->G at 176: in Shinshu; class I<li>D->V at 181: in Santa Maria; class I: in dbSNP rsrs5030872<li>R->W at 182: in Vancouver; class I<li>S->F at 188: in Sassari/Cagliari; class II; frequent in the Mediterranean: in dbSNP rsrs5030868<li>R->C at 198: in Coimbra; class II<li>R->P at 198: in CNSHA; Santiago; class I, MIM: 305900<li>M->V at 212: in Sibari; class III, MIM: 305900<li>V->L at 213: in Minnesota; class I, MIM: 305900<li>F->L at 216: in Harilaou; class I, MIM: 305900<li>R->L at 227: in A- type 2; class III, MIM: 305900<li>R->Q at 227: in Mexico City; class III, MIM: 305900<li>Missing  at 242-243: in Stonybrook; class I, MIM: 305900<li>R->G at 257: in Wayne; class I, MIM: 305900<li>E->K at 274: in Corum; class I, MIM: 305900<li>S->F at 278: in Wexham; class I, MIM: 305900<li>T->S at 279: in Chinese-1; class II, MIM: 305900<li>D->H at 282: in Seattle; class III, MIM: 305900<li>R->H at 285: in Montalbano; class III, MIM: 305900<li>V->M at 291: in Viangchan/Jammu; class II, MIM: 305900<li>E->K at 317: in Kalyan/Kerala; class III, MIM: 305900<li>Y->H at 322: in Rehovot, MIM: 305900<li>L->P at 323: in A- type 3; class III, MIM: 305900<li>A->T at 335: in Chatham; class III: in dbSNP rsrs5030869, MIM: 305900<li>L->F at 342: in Chinese-5, MIM: 305900<li>P->S at 353: in Ierapetra; class II, MIM: 305900<li>N->K at 363: in Loma Linda; class I, MIM: 305900<li>C->R at 385: in Tomah; class I, MIM: 305900<li>K->E at 386: in Iowa; class I, MIM: 305900<li>R->C at 387: in CNSHA; Guadajalara and Mount Sinai; class I, MIM: 305900<li>R->H at 387: in Beverly Hills; class I, MIM: 305900<li>R->H at 393: in Nashville/Anaheim; class I, MIM: 305900<li>V->L at 394: in CNSHA; Alhambra; class I, MIM: 305900<li>P->L at 396: in Bari; class I, MIM: 305900<li>E->K at 398: in Puerto Limon; class I, MIM: 305900<li>G->C at 410: in Riverside; class I, MIM: 305900<li>G->D at 410: in CNSHA; Japan; class I, MIM: 305900<li>E->K at 416: in Tokyo; class I, MIM: 305900<li>R->P at 439: in CNSHA; Pawnee; class I, MIM: 305900<li>L->F at 440: in Telti/Kobe; class I, MIM: 305900<li>G->R at 447: in Santiago de Cuba; class I, MIM: 305900<li>Q->H at 449: in Cassano; class II, MIM: 305900<li>R->C at 454: in Chinese-II/Maewo/Union; class II, <1% activity, MIM: 305900<li>R->H at 454: in Andalus; class I, MIM: 305900<li>R->L at 459: in Canton; class II; frequent in China, MIM: 305900<li>R->P at 459: in Cosenza; class II, MIM: 305900<li>R->H at 463: in Kaiping; class II, MIM: 305900<li>G->V at 488: in Campinas; class I, MIM: 305900</ul>								Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	<li>rs5030869</li><li>rs5030868</li><li>rs5030872</li><li>rs1050829</li><li>rs1050828</li>	2
P11465	5670	<ul><li>V->L at 20: in dbSNP:rs3887660<li>T->A at 176: in dbSNP:rs16976431<li>Q->L at 179: in dbSNP:rs1058086<li>T->R at 335: in dbSNP:rs1064937</ul>									<li>rs1064937</li><li>rs3887660</li><li>rs16976431</li><li>rs1058086</li>	2
P11473	7421	<ul><li>G->D at 33: in rickets<li>H->Q at 35: in rickets<li>K->E at 45: in rickets<li>G->D at 46: in rickets<li>F->I at 47: in rickets<li>R->Q at 50: in rickets<li>R->Q at 73: in rickets<li>R->Q at 80: in rickets<li>L->V at 230: in dbSNP:rs11574090<li>R->L at 274: in rickets; decreases affinity for ligand by a factor of 1000<li>H->Q at 305: in rickets<li>I->S at 314: in rickets<li>T->I at 362: in dbSNP:rs11574115<li>R->C at 391: in rickets</ul>									<li>rs11574115</li><li>rs11574090</li>	2
P11487	2248	<ul><li>S->P at 156: in congenital deafness with inner ear agenesis microtia and microdontia</ul>										2
P11488	2779	<ul><li>G->D at 38: in CSNBAD3; in the Nougaret family descendants, MIM: 610444</ul>								Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]		2
P11498	5091	<ul><li>H->L at 76: in dbSNP:rs7104156<li>V->A at 145: in PC deficiency; mild: in dbSNP rsrs28940591, MIM: 266150<li>R->C at 451: in PC deficiency; mild, MIM: 266150<li>A->T at 610: in PC deficiency; mild: in dbSNP rsrs28940589, MIM: 266150<li>M->I at 743: in PC deficiency; mild: in dbSNP rsrs28940590, MIM: 266150</ul>								Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	<li>rs28940591</li><li>rs28940590</li><li>rs28940589</li><li>rs7104156</li>	2
P11509	1548	<ul><li>G->R at 5: in allele CYP2A6*13: in dbSNP rsrs28399434<li>S->N at 29: in allele CYP2A6*14: in dbSNP rsrs28399435<li>V->L at 110: in allele CYP2A6*24<li>F->L at 118: in allele CYP2A6*25 and allele CYP2A6*26: in dbSNP rsrs28399440<li>R->L at 128: in allele CYP2A6*26<li>R->Q at 128: in allele CYP2A6*6; loss of activity; dbSNP:rs4986891<li>S->A at 131: in allele CYP2A6*26: in dbSNP rsrs59552350<li>L->H at 160: in allele CYP2A6*2; unable to catalyze 7-hydroxylation of coumarin; causes switching from coumarin 7-hydroxylation to 3-hydroxylation; dbSNP:rs1801272<li>K->E at 194: in allele CYP2A6*15<li>R->C at 203: in allele CYP2A6*23; greatly reduced activity toward nicotine C-oxidation as well as reduced coumarin 7-hydroxylation<li>R->S at 203: in allele CYP2A6*16: in dbSNP rsrs56256500<li>S->P at 224<li>T->S at 294: in dbSNP:rs4997557<li>V->M at 365: in allele CYP2A6*17: in dbSNP rsrs28399454<li>Y->F at 392: in dbSNP:rs1809810<li>N->D at 418: in allele CYP2A6*28: in dbSNP rsrs28399463<li>E->D at 419: in allele CYP2A6*28; dbSNP:rs8192730<li>N->Y at 438: in allele CYP2A6*24<li>I->T at 471: in allele CYP2A6*7; dbSNP:rs5031016<li>K->R at 476: in dbSNP:rs6413474<li>G->V at 479: in allele CYP2A6*5; loss of activity; dbSNP:rs5031017<li>R->L at 485: in allele CYP2A6*8: in dbSNP rsrs28399468</ul>							P11509		<li>rs4997557</li><li>rs4986891</li><li>rs59552350</li><li>rs1801272</li><li>rs28399463</li><li>rs5031017</li><li>rs56256500</li><li>rs28399435</li><li>rs5031016</li><li>rs28399434</li><li>rs1809810</li><li>rs6413474</li><li>rs28399454</li><li>rs28399440</li><li>rs28399468</li><li>rs8192730</li>	2
P11511	1588	<ul><li>W->R at 39: in dbSNP:rs2236722<li>T->M at 201: in dbSNP:rs28757184<li>R->C at 264: in dbSNP:rs700519<li>R->Q at 365: in AROD; 0.4% of wild-type activity, MIM: 107910<li>R->C at 375: in AROD, MIM: 107910<li>R->L at 375, MIM: 107910<li>R->C at 435: in AROD; 1.1% of wild-type activity, MIM: 107910<li>C->Y at 437: in AROD; complete loss of activity, MIM: 107910</ul>								Aromatase deficiency (AROD) [MIM:107910]	<li>rs700519</li><li>rs28757184</li><li>rs2236722</li>	2
P11532	1756	<ul><li>K->N at 18: in CMD3B, MIM: 302045<li>Missing  at 32-62: in BMD, MIM: 302045<li>L->R at 54: in DMD, MIM: 310200<li>Q->P at 133: in dbSNP:rs1800256, MIM: 310200<li>D->V at 165: in one patient with Becker muscular dystrophy, MIM: 310200<li>A->D at 168: in BMD, MIM: 300376<li>A->P at 171: in BMD, MIM: 300376<li>Y->N at 231: in BMD, MIM: 300376<li>T->A at 279: in CMD3B, MIM: 302045<li>L->F at 334: in a colorectal cancer sample; somatic mutation, MIM: 302045<li>Q->H at 365: in dbSNP:rs1800266, MIM: 302045<li>Missing  at 495-534: in BMD, MIM: 302045<li>L->I at 623: in dbSNP:rs1800259, MIM: 302045<li>D->G at 645: in DMD, MIM: 310200<li>K->E at 773: in DMD, MIM: 310200<li>A->G at 784: in dbSNP:rs1800260, MIM: 310200<li>G->D at 882: in dbSNP:rs228406, MIM: 310200<li>V->F at 1197: in dbSNP:rs1800262, MIM: 310200<li>E->Q at 1219: in a breast cancer sample; somatic mutation, MIM: 310200<li>T->I at 1245: in dbSNP:rs1800269, MIM: 310200<li>A->P at 1278: in dbSNP:rs1800270, MIM: 310200<li>K->N at 1377: in dbSNP:rs1800263, MIM: 310200<li>Q->L at 1469: in dbSNP:rs1057872, MIM: 310200<li>R->H at 1470: in a breast cancer sample; somatic mutation, MIM: 310200<li>N->K at 1672: in CMD3B: in dbSNP rsrs16990264, MIM: 302045<li>R->H at 1745: in dbSNP:rs1801187, MIM: 302045<li>R->S at 1844: in dbSNP:rs1801186, MIM: 302045<li>R->W at 2155: in dbSNP:rs1800273, MIM: 302045<li>A->V at 2164: in a colorectal cancer sample; somatic mutation, MIM: 302045<li>R->W at 2191, MIM: 302045<li>N->T at 2299, MIM: 302045<li>Missing  at 2305-2366: in DMD, MIM: 302045<li>K->Q at 2366: in dbSNP:rs1800275, MIM: 302045<li>E->V at 2910: in dbSNP rsrs41305353, MIM: 302045<li>N->D at 2912: in dbSNP:rs1800278, MIM: 302045<li>H->R at 2921: in BMD; dbSNP:rs1800279, MIM: 300376<li>Q->R at 2937: in dbSNP:rs1800280, MIM: 300376<li>F->L at 3228: in CMD3B, MIM: 302045<li>C->F at 3313: in one patient with Duchenne muscular dystrophy, MIM: 302045<li>D->H at 3335: in DMD, MIM: 310200<li>C->Y at 3340: in DMD, MIM: 310200<li>A->V at 3421: in BMD, MIM: 300376</ul>							<li>P11533</li><li>O97592</li><li>P11532</li><li>Q5GN48</li>	<li>Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]</li><li>Duchenne muscular dystrophy (DMD) [MIM:310200]</li><li>Becker muscular dystrophy (BMD) [MIM:300376]</li>	<li>rs16990264</li><li>rs1057872</li><li>rs1801187</li><li>rs1801186</li><li>rs228406</li><li>rs1800270</li><li>rs1800262</li><li>rs1800263</li><li>rs1800273</li><li>rs1800260</li><li>rs1800275</li><li>rs1800266</li><li>rs1800259</li><li>rs1800278</li><li>rs1800279</li><li>rs41305353</li><li>rs1800280</li><li>rs1800256</li><li>rs1800269</li>	2
P11586	4522	<ul><li>R->K at 134: in dbSNP:rs1950902<li>R->H at 293: associated with susceptibility to folate-sensitive NTD; dbSNP:rs34181110<li>R->Q at 653: may be associated with susceptibility to folate-sensitive NTD; dbSNP:rs2236225<li>T->M at 761: in dbSNP:rs10813<li>L->F at 769: in dbSNP:rs17857382</ul>									<li>rs34181110</li><li>rs17857382</li><li>rs10813</li><li>rs2236225</li><li>rs1950902</li>	2
P11597	1071	<ul><li>A->G at 15: in dbSNP:rs34065661<li>R->W at 154: in dbSNP:rs34716057<li>L->P at 168: in hyperalphalipoproteinemia; reduced secretion into plasma, MIM: 143470<li>R->C at 299: in hyperalphalipoproteinemia; reduced secretion into plasma, MIM: 143470<li>G->S at 331: in dbSNP:rs5881, MIM: 143470<li>V->M at 385: in dbSNP:rs34855278, MIM: 143470<li>A->P at 390: in dbSNP:rs5880, MIM: 143470<li>V->I at 422: in dbSNP:rs5882, MIM: 143470<li>V->M at 455: in dbSNP:rs2228667, MIM: 143470<li>D->G at 459: in CETP deficiency; dbSNP:rs2303790, MIM: 607322<li>R->Q at 468: in dbSNP:rs1800777, MIM: 607322<li>V->M at 486: in dbSNP:rs5887, MIM: 607322</ul>	secretion	GO:0046903					<li>P25914</li><li>P47896</li><li>P11597</li><li>P22687</li>	<li>Hyperalphalipoproteinemia [MIM:143470]</li><li>CETP deficiency [MIM:607322]</li>	<li>rs5882</li><li>rs34716057</li><li>rs2303790</li><li>rs5880</li><li>rs1800777</li><li>rs5881</li><li>rs2228667</li><li>rs34065661</li><li>rs34855278</li><li>rs5887</li>	2
P11678	8288	<ul><li>V->I at 35: in dbSNP:rs34553736<li>I->M at 40: in dbSNP:rs11079339<li>Q->H at 122: in dbSNP:rs11652709<li>A->E at 249: in dbSNP rsrs35896669<li>K->R at 276: in dbSNP rsrs35074452<li>R->H at 286: in EPD, MIM: 261500<li>P->L at 292: in dbSNP:rs33971258, MIM: 261500<li>R->P at 326: in dbSNP rsrs35832094, MIM: 261500<li>P->L at 358: in dbSNP:rs35135976, MIM: 261500<li>R->H at 364: in dbSNP rsrs35232062, MIM: 261500<li>K->T at 441: in dbSNP:rs35750729, MIM: 261500<li>V->M at 458: in dbSNP:rs34817773, MIM: 261500<li>H->Q at 496: in dbSNP:rs33955150, MIM: 261500<li>N->Y at 572: in dbSNP:rs2302311, MIM: 261500</ul>							<li>Q91130</li><li>Q90399</li><li>P38528</li><li>P17561</li><li>P32187</li><li>P32188</li>	Eosinophil peroxidase deficiency (EPD) [MIM:261500]	<li>rs11079339</li><li>rs35232062</li><li>rs35135976</li><li>rs2302311</li><li>rs34817773</li><li>rs35074452</li><li>rs35896669</li><li>rs35750729</li><li>rs33955150</li><li>rs34553736</li><li>rs35832094</li><li>rs11652709</li><li>rs33971258</li>	2
P11684	7356	<ul><li>R->G at 56: in dbSNP:rs1802634<li>T->A at 68: in dbSNP:rs1802632</ul>									<li>rs1802634</li><li>rs1802632</li>	2
P11686	6440	<ul><li>E->K at 66: in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function, MIM: 610913<li>I->T at 73: in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli, MIM: 610913<li>A->D at 116: in SMDP2, MIM: 610913<li>N->T at 138: influences susceptibility to RDS in premature infants; dbSNP:rs4715, MIM: 610913<li>R->Q at 167: in SMDP2; dbSNP:rs34957318, MIM: 610913<li>N->S at 186: influences susceptibility to RDS in premature infants; dbSNP:rs1124, MIM: 610913<li>L->Q at 188: in SMDP2, MIM: 610913</ul>					endosomes	GO:0005768	<li>P52204</li><li>P17810</li><li>P23942</li><li>P35906</li><li>O42281</li>	Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	<li>rs1124</li><li>rs34957318</li><li>rs4715</li>	2
P11712	1559	<ul><li>L->I at 19: in allele CYP2C9*7<li>R->C at 144: in allele CYP2C9*2; dbSNP:rs1799853<li>R->H at 150: in allele CYP2C9*8; dbSNP:rs7900194<li>H->R at 251: in allele CYP2C9*9; dbSNP:rs2256871<li>E->G at 272: in allele CYP2C9*10; dbSNP:rs9332130<li>R->W at 335: in allele CYP2C9*11: in dbSNP rsrs28371685<li>Y->C at 358: in dbSNP:rs1057909<li>I->L at 359: in allele CYP2C9*3; responsible for the tolbutamide poor metabolizer phenotype; dbSNP:rs1057910<li>I->T at 359: in allele CYP2C9*4: in dbSNP rsrs56165452<li>D->E at 360: in allele CYP2C9*5; increases the K: in dbSNP rsrs28371686<li>L->P at 413: in dbSNP rsrs28371687<li>G->D at 417<li>P->S at 489: in allele CYP2C9*12; dbSNP:rs9332239</ul>							P11712		<li>rs9332130</li><li>rs7900194</li><li>rs9332239</li><li>rs2256871</li><li>rs1799853</li><li>rs1057910</li><li>rs1057909</li><li>rs56165452</li><li>rs28371685</li><li>rs28371686</li><li>rs28371687</li>	2
P11717	3482	<ul><li>R->H at 91: in dbSNP:rs8191704<li>P->L at 203: in dbSNP:rs8191746<li>G->D at 231: in dbSNP:rs8191753<li>L->V at 252: in dbSNP:rs8191754<li>D->G at 273: in dbSNP:rs8191758<li>K->Q at 512: in dbSNP:rs8191776<li>R->Q at 529: in dbSNP:rs6413489<li>G->S at 604: in dbSNP:rs8191797<li>A->T at 724: in dbSNP:rs6413491<li>L->V at 817: in dbSNP:rs8191808<li>G->S at 856: in dbSNP:rs8191819<li>T->M at 1107: in dbSNP:rs8191842<li>V->I at 1124: in dbSNP:rs8191843<li>T->S at 1184: in dbSNP:rs8191844<li>E->A at 1254: in dbSNP:rs2230043<li>G->E at 1315: in dbSNP:rs8191859<li>R->H at 1335: in dbSNP:rs8191860<li>T->S at 1395: in dbSNP:rs2230048<li>G->R at 1619: in dbSNP:rs629849<li>Q->R at 1696: in dbSNP:rs11552587<li>R->H at 1832: in dbSNP:rs8191904<li>G->D at 1860: in dbSNP:rs8191905<li>I->M at 1908: in dbSNP:rs8191908<li>N->S at 2020: in dbSNP:rs1805075<li>A->V at 2459: in dbSNP:rs8191955</ul>									<li>rs8191819</li><li>rs2230043</li><li>rs6413491</li><li>rs2230048</li><li>rs8191908</li><li>rs8191905</li><li>rs8191860</li><li>rs8191904</li><li>rs629849</li><li>rs8191746</li><li>rs11552587</li><li>rs8191842</li><li>rs8191843</li><li>rs8191704</li><li>rs8191844</li><li>rs8191808</li><li>rs8191776</li><li>rs8191758</li><li>rs8191955</li><li>rs8191797</li><li>rs1805075</li><li>rs8191754</li><li>rs8191859</li><li>rs6413489</li><li>rs8191753</li>	2
P11766	128	<ul><li>L->S at 163: in dbSNP:rs28730623<li>V->I at 309: in dbSNP rsrs28730628<li>D->E at 353: in dbSNP:rs16996593</ul>									<li>rs16996593</li><li>rs28730628</li><li>rs28730623</li>	2
P11801	5681	<ul><li>N->S at 301: in dbSNP rsrs35552721</ul>									rs35552721	2
P11802	1019	<ul><li>R->C at 24: in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16: in dbSNP rsrs11547328, MIM: 609048<li>R->H at 24: in CMM3, MIM: 609048<li>N->S at 41: in CMM3; sporadic, MIM: 609048<li>R->Q at 82: in dbSNP:rs3211612, MIM: 609048<li>R->H at 122: in dbSNP rsrs34386532, MIM: 609048</ul>							<li>Q89273</li><li>Q96518</li><li>Q91QT2</li><li>P26379</li><li>P27411</li><li>P27410</li><li>P27920</li><li>Q96725</li><li>P28042</li><li>Q05002</li><li>Q9R0Z3</li><li>Q69014</li><li>P0C044</li><li>Q86117</li><li>P52637</li><li>Q86119</li><li>P0C045</li>	Cutaneous malignant melanoma 3 (CMM3) [MIM:609048, 155600]	<li>rs34386532</li><li>rs3211612</li><li>rs11547328</li>	2
P11844	1418	<ul><li>P->L at 148</ul>										2
P12018	7441	<ul><li>D->N at 76: in dbSNP:rs1320<li>S->L at 122: in dbSNP:rs11089979<li>E->K at 132: in dbSNP:rs5995720</ul>									<li>rs5995720</li><li>rs11089979</li><li>rs1320</li>	2
P12034	2250	<ul><li>M->V at 54: in dbSNP:rs33950145</ul>									rs33950145	2
P12035	3850	<ul><li>R->P at 503: in MCD: in dbSNP rsrs60410063, MIM: 122100<li>E->K at 509: in MCD: in dbSNP rsrs57872071, MIM: 122100</ul>							<li>Q99J39</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	Meesmann corneal dystrophy (MCD) [MIM:122100]	<li>rs57872071</li><li>rs60410063</li>	2
P12036	4744	<ul><li>P->S at 575: in dbSNP:rs6006164<li>Missing  at 796: in ALS<li>E->A at 811: in dbSNP:rs165602</ul>							<li>P37251</li><li>P37252</li><li>P65162</li><li>Q57625</li><li>P65161</li><li>Q57725</li><li>P70389</li><li>Q7U5G1</li><li>P0A622</li><li>P0A623</li><li>P42463</li><li>Q55141</li><li>O19929</li><li>O85293</li><li>O85294</li><li>Q04524</li><li>O02833</li><li>O67703</li><li>P66947</li><li>P66946</li><li>O78451</li><li>Q9RQ65</li><li>Q5KPJ5</li><li>P17597</li><li>P57321</li><li>O27492</li><li>O33112</li><li>Q09129</li><li>O33113</li><li>O08353</li><li>Q59498</li><li>Q59499</li><li>Q04789</li><li>O78518</li><li>Q9TLY1</li><li>P69683</li><li>P69684</li><li>P35858</li><li>P35859</li><li>P36620</li><li>P57320</li><li>P27868</li><li>P07342</li><li>Q89AP7</li><li>P27696</li><li>Q89AP8</li><li>Q02140</li><li>Q9MS98</li><li>P45260</li><li>O28555</li><li>P45261</li><li>P25605</li><li>Q6SSJ3</li><li>P51230</li><li>Q02137</li>		<li>rs165602</li><li>rs6006164</li>	2
P12104	2169	<ul><li>A->T at 55: in 29% of the population; 2-fold greater affinity for long-chain fatty acids; increased fat oxidation and insulin resistance; dbSNP:rs1799883</ul>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		rs1799883	2
P12107	1301	<ul><li>W->G at 8: in dbSNP:rs12025888<li>D->E at 46: in dbSNP:rs11164663<li>G->S at 559: in dbSNP:rs12143815<li>G->V at 625: in STL2, MIM: 604841<li>G->R at 676: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841<li>Missing  at 921-926: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841<li>Missing  at 1313-1315: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841<li>P->L at 1323: in dbSNP:rs3753841, MIM: 604841<li>A->V at 1326: in a breast cancer sample; somatic mutation, MIM: 604841<li>Q->K at 1328: in a breast cancer sample; somatic mutation, MIM: 604841<li>Q->L at 1328: in a breast cancer sample; somatic mutation, MIM: 604841<li>G->V at 1516: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841<li>S->P at 1535: in dbSNP:rs1676486, MIM: 604841<li>L->F at 1805: in dbSNP:rs1975916, MIM: 604841</ul>								Stickler syndrome type 2 (STL2) [MIM:604841]	<li>rs12143815</li><li>rs1676486</li><li>rs11164663</li><li>rs12025888</li><li>rs3753841</li><li>rs1975916</li>	2
P12109	1291	<ul><li>K->R at 121: in BM, MIM: 158810<li>G->V at 305: in BM, MIM: 158810<li>G->D at 341: in BM, MIM: 158810<li>R->Q at 439: in dbSNP:rs35059000, MIM: 158810<li>R->H at 850: in dbSNP:rs1053312, MIM: 158810</ul>								Bethlem myopathy (BM) [MIM:158810]	<li>rs1053312</li><li>rs35059000</li>	2
P12110	1292	<ul><li>D->N at 227: in dbSNP:rs35881321<li>G->S at 271: in BM, MIM: 158810<li>S->N at 399: in dbSNP:rs2839110, MIM: 158810<li>D->N at 621: in BM, MIM: 158810<li>R->H at 680: in dbSNP:rs1042917, MIM: 158810<li>G->R at 935: in dbSNP:rs35548026, MIM: 158810<li>I->L at 1015: in dbSNP:rs11910483, MIM: 158810</ul>								Bethlem myopathy (BM) [MIM:158810]	<li>rs35881321</li><li>rs1042917</li><li>rs11910483</li><li>rs35548026</li><li>rs2839110</li>	2
P12111	1293	<ul><li>T->M at 538: in dbSNP:rs34741387<li>R->H at 659: in dbSNP:rs36092870<li>V->E at 886: in dbSNP:rs9630964<li>K->Q at 1088: in dbSNP:rs11896521<li>G->E at 1679: in BM, MIM: 158810<li>P->L at 2218: in dbSNP:rs36117715, MIM: 158810<li>N->T at 2805: in dbSNP:rs35848091, MIM: 158810<li>D->H at 2831: in dbSNP:rs36104025, MIM: 158810<li>T->M at 2927: in dbSNP:rs6728818, MIM: 158810<li>M->V at 2988: in dbSNP:rs11690358, MIM: 158810<li>P->A at 3012: in dbSNP:rs2270669, MIM: 158810<li>T->I at 3069: in dbSNP:rs1131296, MIM: 158810</ul>								Bethlem myopathy (BM) [MIM:158810]	<li>rs9630964</li><li>rs34741387</li><li>rs6728818</li><li>rs36092870</li><li>rs2270669</li><li>rs36117715</li><li>rs11896521</li><li>rs35848091</li><li>rs11690358</li><li>rs1131296</li><li>rs36104025</li>	2
P12235	291	<ul><li>A->D at 90: in PEOA2, MIM: 609283<li>L->P at 98: in PEOA2, MIM: 609283<li>D->G at 104: in PEOA2: in dbSNP rsrs28999114, MIM: 609283<li>A->P at 114: in PEOA2, MIM: 609283<li>A->D at 123: in hypertrophic cardiomyopathy; sporadic patient with mild myopathy, exercise intolerance and lactic acidosis but no ophthalmoplegia, MIM: 609283<li>V->M at 289: in PEOA2; also found in a sporadic case affected by PEO, MIM: 609283</ul>								Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]	rs28999114	2
P12259	2153	<ul><li>G->S at 15: in dbSNP:rs9332485<li>D->H at 107: in dbSNP:rs6019<li>R->G at 334: in Hong Kong; does not predispose to clinical thrombosis<li>R->T at 334: in THR-APCR; Cambridge, MIM: 188055<li>I->T at 387: in THR-APCR; Liverpool; mutant protein is expressed with an additional carbohydrate chain, MIM: 188055<li>M->T at 413: in dbSNP:rs6033, MIM: 188055<li>R->K at 513: in dbSNP:rs6020, MIM: 188055<li>R->Q at 534: in Leiden; associated with THR-APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025, MIM: 188055<li>C->R at 613: in THR-APCR; Nijkerk, MIM: 188055<li>S->A at 775: in a colorectal cancer sample; somatic mutation, MIM: 188055<li>S->R at 781: in dbSNP:rs13306350, MIM: 188055<li>P->S at 809: in dbSNP:rs6031, MIM: 188055<li>N->T at 817: in dbSNP:rs6018, MIM: 188055<li>K->R at 858: in dbSNP:rs4524, MIM: 188055<li>H->R at 865: in dbSNP:rs4525, MIM: 188055<li>T->S at 915: in dbSNP:rs9332695, MIM: 188055<li>K->E at 925: in dbSNP:rs6032, MIM: 188055<li>N->S at 969: in dbSNP:rs9332604, MIM: 188055<li>R->L at 980: in dbSNP:rs9332605, MIM: 188055<li>H->Q at 1146: in dbSNP:rs6005, MIM: 188055<li>L->I at 1285: in dbSNP:rs1046712, MIM: 188055<li>H->R at 1327: in dbSNP:rs1800595, MIM: 188055<li>L->F at 1397: in dbSNP:rs13306334, MIM: 188055<li>P->S at 1404: in dbSNP:rs9332608, MIM: 188055<li>E->A at 1530: in dbSNP:rs6007, MIM: 188055<li>T->S at 1685: in dbSNP:rs6011, MIM: 188055<li>Y->C at 1730: in FA5D; Seoul 2, MIM: 227400<li>L->V at 1749: in dbSNP:rs6034, MIM: 227400<li>V->M at 1764: in dbSNP:rs6030, MIM: 227400<li>M->I at 1820: in dbSNP:rs6026, MIM: 227400<li>R->C at 2102: in FA5D; impairs both factor V secretion and activity, MIM: 227400<li>R->H at 2102: in THR-APCR, MIM: 188055<li>M->T at 2148: in dbSNP:rs9332701, MIM: 188055<li>K->R at 2185: in dbSNP:rs6679078, MIM: 188055<li>D->G at 2222: in dbSNP:rs6027, MIM: 188055</ul>	secretion	GO:0046903						<li>Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]</li><li>Factor V deficiency (FA5D) [MIM:227400]</li>	<li>rs6007</li><li>rs6005</li><li>rs6027</li><li>rs9332695</li><li>rs6011</li><li>rs6034</li><li>rs6033</li><li>rs6032</li><li>rs6031</li><li>rs6030</li><li>rs9332701</li><li>rs9332604</li><li>rs9332605</li><li>rs9332608</li><li>rs1046712</li><li>rs6018</li><li>rs6019</li><li>rs1800595</li><li>rs9332485</li><li>rs4524</li><li>rs4525</li><li>rs6020</li><li>rs6026</li><li>rs6025</li><li>rs6679078</li><li>rs13306334</li><li>rs13306350</li>	2
P12270	7175	<ul><li>S->N at 960: in dbSNP:rs3753565<li>V->G at 1428: in dbSNP:rs35550453<li>T->A at 1707: in dbSNP:rs35766045</ul>									<li>rs3753565</li><li>rs35550453</li><li>rs35766045</li>	2
P12271	6017	<ul><li>R->Q at 151: in ARRP; loss of ability to bind 11-cis-retinaldehyde: in dbSNP rsrs28933989, MIM: 268000<li>M->K at 226: in FA, MIM: 136880<li>R->W at 234: in Bothnia retinal dystrophy; dbSNP:rs28933990, MIM: 607475</ul>							Q62225	<li>Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]</li><li>Fundus albipunctatus (FA) [MIM:136880]</li><li>Bothnia retinal dystrophy [MIM:607475]</li>	<li>rs28933990</li><li>rs28933989</li>	2
P12272	5744	<ul><li>S->T at 169: in a breast cancer sample; somatic mutation</ul>										2
P12277	1152	<ul><li>K->R at 177: in dbSNP rsrs36002620<li>S->L at 309: in dbSNP rsrs35156510<li>L->F at 360: in dbSNP:rs12505</ul>									<li>rs12505</li><li>rs35156510</li><li>rs36002620</li>	2
P12314	2209	<ul><li>L->P at 105: in dbSNP:rs619322</ul>									rs619322	2
P12318	2212	<ul><li>Q->R at 63: in dbSNP:rs9427398<li>M->V at 140: in dbSNP:rs4986941<li>H->R at 167: may be associated with susceptibility to lupus nephritis; does not efficiently recognize IgG2; dbSNP:rs1801274<li>I->V at 218: in dbSNP:rs17851834</ul>									<li>rs17851834</li><li>rs9427398</li><li>rs4986941</li>	2
P12319	2205	<ul><li>K->R at 84: in dbSNP:rs2298804<li>S->N at 101: in dbSNP:rs2298805</ul>									<li>rs2298805</li><li>rs2298804</li>	2
P12429	306	<ul><li>S->N at 19: in dbSNP:rs5951<li>I->N at 219: in dbSNP:rs5948<li>P->L at 251: in dbSNP:rs5949<li>F->S at 291: in dbSNP:rs5941</ul>									<li>rs5941</li><li>rs5949</li><li>rs5948</li><li>rs5951</li>	2
P12524	4610	<ul><li>S->T at 362: in dbSNP:rs3134614</ul>									rs3134614	2
P12544	3001	<ul><li>T->M at 121: in dbSNP:rs3104233</ul>									rs3104233	2
P12643	650	<ul><li>S->A at 37: in dbSNP:rs2273073<li>P->S at 77: in dbSNP:rs36105541<li>A->T at 106: in dbSNP:rs2273074<li>L->S at 161: in dbSNP:rs34183594<li>R->S at 190: in dbSNP:rs235768<li>D->G at 387: in dbSNP:rs11545591</ul>									<li>rs2273074</li><li>rs11545591</li><li>rs34183594</li><li>rs2273073</li><li>rs36105541</li><li>rs235768</li>	2
P12644	652	<ul><li>S->C at 91: in renal hypodysplasia patients<li>E->G at 93: in MCOPS6, MIM: 607932<li>T->S at 116: in a renal hypodysplasia patient, MIM: 607932<li>N->K at 150: in a renal hypodysplasia patient, MIM: 607932<li>V->A at 152: in dbSNP:rs17563, MIM: 607932<li>T->A at 225, MIM: 607932<li>R->W at 226, MIM: 607932<li>S->T at 367, MIM: 607932</ul>								Microphthalmia syndromic type 6 (MCOPS6) [MIM:607932]	rs17563	2
P12645	651	<ul><li>Q->K at 176: in dbSNP:rs34213771<li>Q->L at 176: in dbSNP:rs34847147<li>R->Q at 192: in dbSNP:rs3733549<li>L->F at 205: in dbSNP:rs6831040<li>T->M at 222: in dbSNP:rs34505126</ul>									<li>rs34213771</li><li>rs3733549</li><li>rs34505126</li><li>rs6831040</li><li>rs34847147</li>	2
P12694	593	<ul><li>P->H at 39: in dbSNP:rs34589432<li>T->M at 151: in dbSNP:rs34442879<li>R->W at 159: in MSUD1A, MIM: 248600<li>Q->K at 190: in MSUD1A, MIM: 248600<li>A->T at 253: in MSUD1A, MIM: 248600<li>G->R at 290: in MSUD1A, MIM: 248600<li>I->T at 326: in MSUD1A, MIM: 248600<li>F->C at 409: in MSUD1A, MIM: 248600<li>Y->C at 413: in MSUD1A, MIM: 248600<li>Y->N at 438: in MSUD1A; impedes assembly of the E1 component, MIM: 248600</ul>			E1	GO:0004839				Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	<li>rs34442879</li><li>rs34589432</li>	2
P12724	6037	<ul><li>R->C at 72<li>T->R at 124: in dbSNP:rs2073342<li>G->R at 130: in dbSNP:rs12147890</ul>									<li>rs2073342</li><li>rs12147890</li>	2
P12757	6498	<ul><li>V->A at 38: in dbSNP:rs3772173</ul>									rs3772173	2
P12814	87	<ul><li>N->T at 707: in dbSNP:rs7157661<li>T->S at 868: in dbSNP:rs11557769</ul>									<li>rs11557769</li><li>rs7157661</li>	2
P12821	1636	<ul><li>A->T at 154: in dbSNP:rs13306087<li>A->T at 183: in dbSNP:rs12720754<li>Y->C at 244: in dbSNP:rs3730025<li>R->C at 260: in dbSNP:rs4302<li>R->L at 260: in dbSNP:rs4303<li>A->S at 261: in dbSNP:rs4303<li>P->L at 351: in dbSNP:rs2229839<li>G->R at 354: in dbSNP:rs56394458<li>R->Q at 379: in dbSNP:rs13306085<li>V->A at 524: in dbSNP:rs12720746<li>R->W at 561: in dbSNP:rs4314<li>D->G at 592: in dbSNP:rs12709426<li>M->T at 828: in dbSNP:rs13306091<li>T->M at 916: in dbSNP:rs3730043<li>I->T at 1018: in dbSNP:rs4976<li>F->V at 1051: in dbSNP:rs4977<li>T->M at 1187: in dbSNP:rs12709442<li>P->L at 1228: no effect on activity; increases secretion; rate of solubilization is 2.5-fold higher than wild-type<li>R->Q at 1279: in dbSNP:rs4980<li>R->S at 1286: in dbSNP:rs4364<li>Q->P at 1296: in dbSNP:rs4981</ul>	secretion	GO:0046903							<li>rs3730043</li><li>rs12720746</li><li>rs13306091</li><li>rs12709442</li><li>rs4981</li><li>rs12720754</li><li>rs4980</li><li>rs56394458</li><li>rs2229839</li><li>rs12709426</li><li>rs4364</li><li>rs4302</li><li>rs13306087</li><li>rs4303</li><li>rs4314</li><li>rs3730025</li><li>rs13306085</li><li>rs4976</li><li>rs4977</li>	2
P12829	4635	<ul><li>N->Y at 186: in dbSNP:rs16941677</ul>									rs16941677	2
P12830	999	<ul><li>D->N at 72: in dbSNP:rs35606263<li>H->Y at 123: in diffuse gastric cancer<li>T->P at 193: in diffuse gastric cancer<li>D->G at 244: in HDGC, MIM: 137215<li>S->A at 270: may contribute to prostate cancer, MIM: 137215<li>Missing  at 274-277: in gastric adenocarcinoma, MIM: 137215<li>M->I at 282: in a breast cancer sample; somatic mutation, MIM: 137215<li>N->S at 315: in lobular breast carcinoma, MIM: 137215<li>E->D at 336, MIM: 137215<li>T->A at 340: in HDGC and colorectal cancer, MIM: 137215<li>D->A at 370: in diffuse gastric cancer, MIM: 137215<li>I->N at 393: in dbSNP:rs34466743, MIM: 137215<li>Missing  at 400: in gastric carcinoma; loss of heterozygosity, MIM: 137215<li>Missing  at 418-423: in gastric carcinoma, MIM: 137215<li>E->Q at 463: in diffuse gastric cancer, MIM: 137215<li>T->I at 470, MIM: 137215<li>V->D at 473: in diffuse gastric cancer, MIM: 137215<li>V->I at 473: in dbSNP:rs36087757, MIM: 137215<li>L->P at 478: in dbSNP rsrs35520415, MIM: 137215<li>V->A at 487: in HDGC, MIM: 137215<li>A->T at 592: in thyroid cancer; may play a role in colorectal carcinogenesis: in dbSNP rsrs35187787, MIM: 137215<li>R->Q at 598: in diffuse gastric cancer, MIM: 137215<li>A->T at 617: in endometrial cancer; loss of heterozygosity; also found as a polymorphism; dbSNP:rs33935154, MIM: 608089<li>L->V at 630: in dbSNP:rs2276331, MIM: 608089<li>C->R at 695: in dbSNP:rs9282655, MIM: 608089<li>L->V at 711: in endometrial cancer, MIM: 608089<li>D->N at 777: in a breast cancer sample; somatic mutation, MIM: 608089<li>V->M at 832: in dbSNP rsrs35572355, MIM: 608089<li>S->G at 838: in ovarian cancer; loss of heterozygosity, MIM: 608089<li>E->K at 880: in dbSNP rsrs34507583, MIM: 608089</ul>							Q14126	<li>Hereditary diffuse gastric cancer (HDGC) [MIM:137215]</li><li>Endometrial cancer [MIM:608089]</li>	<li>rs2276331</li><li>rs34507583</li><li>rs35520415</li><li>rs9282655</li><li>rs35572355</li><li>rs34466743</li><li>rs36087757</li><li>rs35187787</li><li>rs35606263</li><li>rs33935154</li>	2
P12838	1669	<ul><li>A->P at 8: in dbSNP:rs28661751<li>R->Q at 74: in a colorectal cancer sample; somatic mutation</ul>									rs28661751	2
P12872	4295	<ul><li>V->A at 15: in dbSNP:rs2281820</ul>									rs2281820	2
P12882	4619	<ul><li>G->S at 640<li>S->L at 1306: in a breast cancer sample; somatic mutation<li>R->C at 1341: in dbSNP:rs3744564<li>A->T at 1445: in a breast cancer sample; somatic mutation<li>Q->H at 1539: in dbSNP:rs3764850<li>V->M at 1598: in a breast cancer sample; somatic mutation<li>R->C at 1716: in dbSNP:rs1077841</ul>									<li>rs3744564</li><li>rs1077841</li><li>rs3764850</li>	2
P12883	4625	<ul><li>D->A at 3: in dbSNP:rs3729993<li>A->V at 26: in CMH1, MIM: 192600<li>V->M at 39: in CMH1, MIM: 192600<li>V->I at 59: in CMH1, MIM: 192600<li>D->E at 107: in dbSNP:rs2754166, MIM: 192600<li>Y->H at 115: in CMH1, MIM: 192600<li>T->I at 124: in CMH1, MIM: 192600<li>R->G at 143: in CMH1, MIM: 192600<li>R->Q at 143: in CMH1, MIM: 192600<li>R->W at 143: in CMH1, MIM: 192600<li>K->N at 146: in CMH1, MIM: 192600<li>S->I at 148: in CMH1, MIM: 192600<li>Y->C at 162: in CMH1, MIM: 192600<li>V->L at 186: in CMH1, MIM: 192600<li>N->K at 187: in CMH1, MIM: 192600<li>T->N at 188: in CMH1, MIM: 192600<li>R->T at 190: in CMH1, MIM: 192600<li>A->T at 196: in CMH1, MIM: 192600<li>I->T at 201: in CMD1S, MIM: 160760<li>R->H at 204: in CMH1, MIM: 192600<li>K->Q at 207: in CMH1, MIM: 192600<li>P->L at 211: in CMH1, MIM: 192600<li>Q->K at 222: in CMH1, MIM: 192600<li>A->T at 223: in CMD1S, MIM: 160760<li>L->V at 227: in CMH1, MIM: 192600<li>N->S at 232: in CMH1, MIM: 192600<li>F->L at 244: in CMH1, MIM: 192600<li>R->Q at 249: in CMH1; dbSNP:rs3218713, MIM: 192600<li>G->E at 256: in CMH1, MIM: 192600<li>I->M at 263: in CMH1, MIM: 192600<li>I->T at 263: in CMH1, MIM: 192600<li>F->C at 312: in CMH1, MIM: 192600<li>V->M at 320: in CMH1, MIM: 192600<li>E->G at 328: in CMH1, MIM: 192600<li>M->T at 349: in CMH1, MIM: 192600<li>K->E at 351: in CMH1, MIM: 192600<li>A->T at 355: in CMH1, MIM: 192600<li>K->N at 383: in CMH1, MIM: 192600<li>A->V at 385: in CMH1, MIM: 192600<li>L->V at 390: in CMH1, MIM: 192600<li>R->L at 403: in CMH1, MIM: 192600<li>R->Q at 403: in CMH1, MIM: 192600<li>R->W at 403: in CMH1; dbSNP:rs3218714, MIM: 192600<li>V->L at 404: in CMH1, MIM: 192600<li>V->M at 404: in CMH1, MIM: 192600<li>V->M at 406: in CMH1, MIM: 192600<li>G->V at 407: in CMH1, MIM: 192600<li>V->I at 411: in CMH1, MIM: 192600<li>T->N at 412: in CMD1S, MIM: 160760<li>G->R at 425: in CMH1, MIM: 192600<li>A->V at 428: in CMH1, MIM: 192600<li>A->E at 430: in CMH1, MIM: 192600<li>M->T at 435: in CMH1, MIM: 192600<li>V->M at 440: in CMH1, MIM: 192600<li>T->M at 441: in MPD1, MIM: 160500<li>I->T at 443: in CMH1, MIM: 192600<li>K->E at 450: in CMH1, MIM: 192600<li>K->T at 450: in CMH1, MIM: 192600<li>R->C at 453: in CMH1, MIM: 192600<li>R->H at 453: in CMH1, MIM: 192600<li>E->Q at 466: in dbSNP:rs4981473, MIM: 192600<li>N->S at 479: in CMH1, MIM: 192600<li>E->K at 483: in CMH1, MIM: 192600<li>E->K at 499: in CMH1; dbSNP:rs3218715, MIM: 192600<li>E->A at 500: in CMH1, MIM: 192600<li>Y->C at 501: in CMH1, MIM: 192600<li>I->F at 511: in CMH1, MIM: 192600<li>I->T at 511: in CMH1, MIM: 192600<li>F->C at 513: in CMH1, MIM: 192600<li>M->R at 515: in CMH1, MIM: 192600<li>M->V at 515: in CMH1; infrequent, MIM: 192600<li>L->M at 517: in CMH1, MIM: 192600<li>S->P at 532: in CMD1S, MIM: 160760<li>A->V at 550: in CMD1S, MIM: 160760<li>G->R at 571: in CMH1, MIM: 192600<li>H->R at 576: in CMH1, MIM: 192600<li>G->R at 584: in CMH1, MIM: 192600<li>G->S at 584: in CMH1, MIM: 192600<li>D->V at 587: in CMH1, MIM: 192600<li>Q->R at 595: in CMH1, MIM: 192600<li>L->V at 601: in CMH1, MIM: 192600<li>N->S at 602: in CMH1, MIM: 192600<li>V->M at 606: in CMH1; in cis with V-728 gives a more severe phenotype, MIM: 192600<li>K->N at 615: in CMH1, MIM: 192600<li>K->Q at 615: in CMH1, MIM: 192600<li>S->L at 642: in CMD1S, MIM: 160760<li>M->I at 659: in CMH1, MIM: 192600<li>R->C at 663: in CMH1, MIM: 192600<li>R->H at 663: in CMH1, MIM: 192600<li>R->S at 663: in CMH1, MIM: 192600<li>R->C at 671: in CMH1, MIM: 192600<li>R->C at 694: in CMH1, MIM: 192600<li>R->H at 694: in CMH1, MIM: 192600<li>N->S at 696: in CMH1, MIM: 192600<li>V->A at 698: in CMH1, MIM: 192600<li>R->L at 712: in CMH1, MIM: 192600<li>G->R at 716: in CMH1, MIM: 192600<li>R->Q at 719: in CMH1, MIM: 192600<li>R->W at 719: in CMH1, MIM: 192600<li>R->C at 723: in CMH1, MIM: 192600<li>R->G at 723: in CMH1; malignant phenotype, MIM: 192600<li>A->V at 728: in CMH1; in cis with M-606 gives a more severe phenotype, MIM: 192600<li>P->L at 731: in CMH1, MIM: 192600<li>G->E at 733: in CMH1, MIM: 192600<li>Q->E at 734: in CMH1, MIM: 192600<li>Q->P at 734: in CMH1, MIM: 192600<li>I->M at 736: in CMH1, MIM: 192600<li>I->T at 736: in CMH1, MIM: 192600<li>G->R at 741: in CMH1, MIM: 192600<li>G->W at 741: in CMH1, MIM: 192600<li>A->E at 742: in CMH1, MIM: 192600<li>E->D at 743: in CMH1, MIM: 192600<li>V->G at 763: in CMH1, MIM: 192600<li>V->M at 763: in CMH1, MIM: 192600<li>F->L at 764: in CMD1S, MIM: 160760<li>G->R at 768: in CMH1, MIM: 192600<li>E->V at 774: in CMH1, MIM: 192600<li>D->E at 778: in CMH1, MIM: 192600<li>D->G at 778: in CMH1, MIM: 192600<li>D->V at 778: in CMH1, MIM: 192600<li>S->N at 782: in CMH1, MIM: 192600<li>R->C at 787: in CMH1, MIM: 192600<li>R->H at 787: in CMH1, MIM: 192600<li>L->F at 796: in CMH1, MIM: 192600<li>A->T at 797: in CMH1; dbSNP:rs3218716, MIM: 192600<li>M->L at 822: in CMH1, MIM: 192600<li>M->T at 822: in CMH1, MIM: 192600<li>G->E at 823: in CMH1, MIM: 192600<li>V->I at 824: in CMH1, MIM: 192600<li>E->Q at 846: in CMH1, MIM: 192600<li>Missing  at 847: in CMH1, MIM: 192600<li>M->T at 852: in CMH1, MIM: 192600<li>R->C at 858: in CMH1; infrequent, MIM: 192600<li>R->H at 858: in CMH1, MIM: 192600<li>R->C at 869: in CMH1, MIM: 192600<li>R->G at 869: in CMH1, MIM: 192600<li>R->H at 869: in CMH1: in dbSNP rsrs36211715, MIM: 192600<li>R->C at 870: in CMH1; dbSNP:rs36211715, MIM: 192600<li>R->H at 870: in CMH1: in dbSNP rsrs36211715, MIM: 192600<li>M->K at 877: in CMH1, MIM: 192600<li>Q->E at 882: in CMH1, MIM: 192600<li>Missing  at 883: in CMH1, MIM: 192600<li>E->G at 894: in CMH1, MIM: 192600<li>A->G at 901: in CMH1, MIM: 192600<li>C->F at 905: in CMH1, MIM: 192600<li>D->G at 906: in CMH1, MIM: 192600<li>L->V at 908: in CMH1, MIM: 192600<li>E->K at 921: in CMH1, MIM: 192600<li>E->K at 924: in CMH1, MIM: 192600<li>E->Q at 924: in CMH1, MIM: 192600<li>E->K at 927: in CMH1, MIM: 192600<li>Missing  at 927: in CMH1, MIM: 192600<li>D->N at 928: in CMH1, MIM: 192600<li>E->K at 930: in CMH1, MIM: 192600<li>Missing  at 930: in CMH1, MIM: 192600<li>E->K at 931: in CMH1, MIM: 192600<li>E->K at 935: in CMH1, MIM: 192600<li>E->K at 949: in CMH1, MIM: 192600<li>D->H at 953: in CMH1, MIM: 192600<li>T->N at 1019: in CMD1S, MIM: 160760<li>G->D at 1057: in CMH1, MIM: 192600<li>G->S at 1057: in CMH1, MIM: 192600<li>A->S at 1124: in dbSNP:rs1041961 and dbSNP:rs17420746, MIM: 192600<li>L->R at 1135: in CMH1, MIM: 192600<li>R->S at 1193: in CMD1S, MIM: 160760<li>E->Q at 1218: in CMH1, MIM: 192600<li>N->K at 1327: in CMH1, MIM: 192600<li>E->K at 1356: in CMH1, MIM: 192600<li>T->M at 1377: in CMH1, MIM: 192600<li>A->T at 1379: in CMH1, MIM: 192600<li>R->W at 1382: in CMH1, MIM: 192600<li>L->M at 1414: in CMH1, MIM: 192600<li>R->W at 1420: in CMH1, MIM: 192600<li>E->K at 1426: in CMD1S, MIM: 160760<li>A->T at 1454: in CMH1, MIM: 192600<li>K->N at 1459: in CMH1, MIM: 192600<li>R->C at 1475, MIM: 192600<li>S->C at 1491: in dbSNP:rs3729823, MIM: 192600<li>R->P at 1500: in MPD1, MIM: 160500<li>T->S at 1513: in CMH1, MIM: 192600<li>S->C at 1519, MIM: 192600<li>E->K at 1555: in CMH1, MIM: 192600<li>Missing  at 1617: in MPD1, MIM: 192600<li>R->C at 1634: in CMD1S, MIM: 160760<li>A->P at 1663: in MPD1, MIM: 160500<li>V->M at 1692: probable polymorphism; has been originally reported as a hypertrophic cardiomyopathy mutation, MIM: 160500<li>L->P at 1706: in MPD1, MIM: 160500<li>R->W at 1712: in CMH1, MIM: 192600<li>Missing  at 1729: in MPD1, MIM: 192600<li>E->K at 1753: in CMH1, MIM: 192600<li>E->K at 1768: in CMH1, MIM: 192600<li>S->G at 1776: in CMH1, MIM: 192600<li>A->T at 1777: in CMH1, MIM: 192600<li>R->W at 1845: in myosin storage myopathy and SPMM; dbSNP:rs28933098, MIM: 181430<li>T->M at 1854: in CMH1, MIM: 192600<li>E->K at 1883: in CMH1, MIM: 192600<li>H->L at 1901: in myosin storage myopathy, MIM: 608358<li>K->N at 1919, MIM: 608358<li>T->M at 1929: in CMH1, MIM: 192600</ul>					myosin	GO:0016459	<li>Q62225</li><li>P55210</li><li>Q02242</li>	<li>Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]</li><li>Myosin storage myopathy [MIM:608358]</li><li>Laing early-onset distal myopathy (MPD1) [MIM:160500]</li><li>Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]</li><li>Cardiomyopathy dilated type 1S (CMD1S) [MIM:160760]</li>	<li>rs28933098</li><li>rs3218713</li><li>rs3729993</li><li>rs1041961 and dbSNP:rs17420746</li><li>rs3218714</li><li>rs2754166</li><li>rs3218715</li><li>rs3729823</li><li>rs3218716</li><li>rs36211715</li><li>rs4981473</li>	2
P12931	6714	<ul><li>L->F at 176: in dbSNP:rs6018260<li>A->T at 237: in dbSNP rsrs34881773</ul>									<li>rs34881773</li><li>rs6018260</li>	2
P12955	5184	<ul><li>R->Q at 184: in PD, MIM: 170100<li>D->N at 276: in PD, MIM: 170100<li>G->D at 278: in PD, MIM: 170100<li>R->H at 388: in dbSNP:rs2230062, MIM: 170100<li>L->F at 435: in dbSNP:rs17570, MIM: 170100<li>G->R at 448: in PD, MIM: 170100<li>Missing  at 452: in PD, MIM: 170100</ul>								Prolidase deficiency (PD) [MIM:170100]	<li>rs2230062</li><li>rs17570</li>	2
P13010	7520	<ul><li>L->F at 463: in dbSNP:rs1805380<li>I->V at 508: in dbSNP:rs2287558</ul>									<li>rs1805380</li><li>rs2287558</li>	2
P13051	7374	<ul><li>Q->R at 4: in dbSNP:rs7488798<li>F->S at 251: in HIGM5; fully active and stable when expressed in E. coli; mistargeted to mitochondria rather than the nucleus, MIM: 608106</ul>					nucleus	GO:0005634		Immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]	rs7488798	2
P13073	1327	<ul><li>Y->F at 38</ul>										2
P13164	8519	<ul><li>P->A at 13: in dbSNP:rs9667990</ul>									rs9667990	2
P13224	2812	<ul><li>Y->C at 113: in BSS, MIM: 231200<li>A->P at 133: in BSS, MIM: 231200</ul>								Bernard-Soulier syndrome (BSS) [MIM:231200]		2
P13236	6351	<ul><li>M->V at 12: in dbSNP:rs9635771<li>P->L at 20: in dbSNP:rs1130750</ul>									<li>rs9635771</li><li>rs1130750</li>	2
P13385	6997	<ul><li>V->A at 22: in dbSNP:rs11130097<li>Y->D at 43: in dbSNP:rs2293025<li>R->G at 111: in dbSNP:rs34501971</ul>									<li>rs34501971</li><li>rs2293025</li><li>rs11130097</li>	2
P13473	3920	<ul><li>P->H at 256: in dbSNP:rs1043878<li>W->R at 321: in DAND, MIM: 300257</ul>								Danon disease (DAND) [MIM:300257]	rs1043878	2
P13489	6050	<ul><li>P->L at 170: in dbSNP:rs17585</ul>									rs17585	2
P13497	649	<ul><li>D->H at 45: in a breast cancer sample; somatic mutation<li>V->I at 719: in dbSNP:rs11996036</ul>									rs11996036	2
P13498	1535	<ul><li>G->R at 24: in ARCGD: in dbSNP rsrs28941476, MIM: 233690<li>H->Y at 72: in dbSNP:rs4673, MIM: 233690<li>R->Q at 90: in ARCGD, MIM: 233690<li>H->R at 94: in ARCGD, MIM: 233690<li>S->R at 118: in ARCGD, MIM: 233690<li>P->Q at 156: in ARCGD, MIM: 233690<li>A->V at 174: in dbSNP:rs1049254, MIM: 233690</ul>								Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	<li>rs4673</li><li>rs28941476</li><li>rs1049254</li>	2
P13501	6352	<ul><li>S->F at 24</ul>										2
P13521	7857	<ul><li>Y->H at 61: in dbSNP:rs16864976<li>A->V at 196: in dbSNP:rs1438157<li>D->G at 294: in dbSNP:rs17852053<li>R->G at 421: in dbSNP:rs17856669<li>D->G at 535: in dbSNP:rs17852054<li>P->L at 564: in dbSNP:rs36043001</ul>									<li>rs1438157</li><li>rs36043001</li><li>rs17852054</li><li>rs17856669</li><li>rs16864976</li><li>rs17852053</li>	2
P13533	4624	<ul><li>Q->E at 88: in dbSNP:rs442275<li>L->M at 783: in dbSNP:rs11847151<li>R->Q at 795: in CMH; late onset, MIM: 192600<li>I->N at 820: in ASD3, MIM: 160710<li>V->A at 1101: in dbSNP:rs365990, MIM: 160710<li>T->S at 1737: in dbSNP:rs1059854, MIM: 160710</ul>								<li>Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]</li><li>Atrial septal defect type 3 (ASD3) [MIM:160710]</li>	<li>rs1059854</li><li>rs11847151</li><li>rs365990</li><li>rs442275</li>	2
P13535	4626	<ul><li>I->T at 326: in dbSNP:rs34124921<li>A->V at 636: in dbSNP:rs34693726<li>R->Q at 674: in Carney complex variant and trismus-pseudocamptodactyly syndrome: in dbSNP rsrs28932773, MIM: 158300<li>E->G at 924: in dbSNP:rs4372733, MIM: 158300<li>M->T at 1229: in dbSNP:rs35962914, MIM: 158300<li>E->G at 1261: in dbSNP:rs1063926, MIM: 158300<li>W->R at 1692: in dbSNP:rs8069834, MIM: 158300</ul>								<li>Trismus-pseudocamptodactyly syndrome [MIM:158300]</li><li>Carney complex variant [MIM:608837]</li>	<li>rs1063926</li><li>rs34693726</li><li>rs8069834</li><li>rs28932773</li><li>rs4372733</li><li>rs35962914</li><li>rs34124921</li>	2
P13569	1080	<ul><li>S->F at 13: in CF, MIM: 219700<li>R->C at 31: in dbSNP:rs1800073, MIM: 219700<li>R->L at 31: in CF, MIM: 219700<li>S->F at 42: in CF, MIM: 219700<li>D->G at 44: in CF, MIM: 219700<li>D->V at 44: in dbSNP:rs1800074, MIM: 219700<li>S->Y at 50: in CBAVD, MIM: 277180<li>W->G at 57: in CF, MIM: 219700<li>P->L at 67: in CF, MIM: 219700<li>R->W at 74: in CF, MIM: 219700<li>R->Q at 75: in dbSNP:rs1800076, MIM: 219700<li>G->E at 85: in CF, MIM: 219700<li>F->L at 87: in CF, MIM: 219700<li>G->R at 91: in CF, MIM: 219700<li>E->K at 92: in CF, MIM: 219700<li>Q->R at 98: in CF, MIM: 219700<li>I->S at 105: in CF, MIM: 219700<li>Y->C at 109: in CF, MIM: 219700<li>D->H at 110: in CF, MIM: 219700<li>P->L at 111: in CBAVD, MIM: 277180<li>R->C at 117: in CF, MIM: 219700<li>R->H at 117: in CF and CBAVD, MIM: 219700<li>R->L at 117: in CF, MIM: 219700<li>R->P at 117: in CF, MIM: 219700<li>A->T at 120: in CF, MIM: 219700<li>L->P at 138: in dbSNP:rs1800078, MIM: 219700<li>H->R at 139: in CF, MIM: 219700<li>A->D at 141: in CF, MIM: 219700<li>I->T at 148: in CF; dbSNP:rs35516286, MIM: 219700<li>G->R at 149: in CBAVD, MIM: 277180<li>R->H at 170: in dbSNP:rs1800079, MIM: 277180<li>G->R at 178: in CF, MIM: 219700<li>S->G at 182: in dbSNP:rs1800080, MIM: 219700<li>Missing  at 192: in CF, MIM: 219700<li>E->K at 193: in CBAVD and CF, MIM: 219700<li>H->Q at 199: in CF, MIM: 219700<li>H->Y at 199: in CF, MIM: 219700<li>P->S at 205: in CF, MIM: 219700<li>L->W at 206: in CF, MIM: 219700<li>C->R at 225: in CF, MIM: 219700<li>M->K at 244: in CBAVD, MIM: 277180<li>R->G at 258: in CBAVD, MIM: 277180<li>N->Y at 287: in CF, MIM: 219700<li>R->Q at 297: in CF, MIM: 219700<li>Y->C at 301: in CF, MIM: 219700<li>S->N at 307: in CF, MIM: 219700<li>F->L at 311: in CF, MIM: 219700<li>Missing  at 311: in CF, MIM: 219700<li>G->E at 314: in CF, MIM: 219700<li>G->R at 314: in CF, MIM: 219700<li>V->M at 322: in dbSNP:rs1800085, MIM: 219700<li>R->W at 334: in CF; mild, MIM: 219700<li>I->K at 336: in CF, MIM: 219700<li>T->I at 338: in CF; mild; isolated hypotonic dehydration, MIM: 219700<li>L->P at 346: in CF; dominant mutation but mild phenotype, MIM: 219700<li>R->H at 347: in CF, MIM: 219700<li>R->L at 347: in CF, MIM: 219700<li>R->P at 347: in CF; MILD, MIM: 219700<li>T->S at 351: in dbSNP:rs1800086, MIM: 219700<li>R->Q at 352: in CF, MIM: 219700<li>Q->H at 353: in dbSNP:rs1800087, MIM: 219700<li>QT->KK at 359-360: in CF, MIM: 219700<li>Q->K at 359: in CF, MIM: 219700<li>K->KNK at 370: in CF, MIM: 219700<li>A->E at 455: in CF, MIM: 219700<li>V->F at 456: in CF, MIM: 219700<li>G->V at 458: in CF, MIM: 219700<li>L->F at 467: in dbSNP:rs1800089, MIM: 219700<li>V->M at 470: in dbSNP:rs213950, MIM: 219700<li>G->C at 480: in CF, MIM: 219700<li>S->F at 492: in CF, MIM: 219700<li>E->Q at 504: in CF, MIM: 219700<li>I->M at 506: in dbSNP:rs1800092, MIM: 219700<li>I->V at 506: in dbSNP rsrs1801178, MIM: 219700<li>I->V at 507: in dbSNP:rs1800091, MIM: 219700<li>Missing  at 507: in CF, MIM: 219700<li>F->C at 508: in dbSNP:rs1800093, MIM: 219700<li>Missing  at 508: in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane, MIM: 219700<li>D->G at 513: in CBAVD, MIM: 277180<li>V->F at 520: in CF, MIM: 219700<li>K->E at 532: in dbSNP:rs35032490, MIM: 219700<li>G->V at 544: in CBAVD, MIM: 277180<li>S->I at 549: in CF, MIM: 219700<li>S->N at 549: in CF, MIM: 219700<li>S->R at 549: in CF, MIM: 219700<li>G->D at 551: in CF, MIM: 219700<li>G->S at 551: in CF, MIM: 219700<li>R->Q at 553: in CF, MIM: 219700<li>L->S at 558: in CF, MIM: 219700<li>A->T at 559: in CF, MIM: 219700<li>R->K at 560: in CF, MIM: 219700<li>R->S at 560: in CF, MIM: 219700<li>R->T at 560: in CF, MIM: 219700<li>V->I at 562: in dbSNP:rs1800097, MIM: 219700<li>V->L at 562: in CF, MIM: 219700<li>Y->N at 563: in CF, MIM: 219700<li>Y->C at 569: in CF, MIM: 219700<li>Y->D at 569: in CF, MIM: 219700<li>Y->H at 569: in CF, MIM: 219700<li>L->S at 571: in CF, MIM: 219700<li>D->N at 572: in CF, MIM: 219700<li>P->H at 574: in CF, MIM: 219700<li>G->A at 576: in dbSNP:rs1800098, MIM: 219700<li>D->G at 579: in CF, MIM: 219700<li>I->F at 601: in CF, MIM: 219700<li>S->F at 605: in dbSNP:rs766874, MIM: 219700<li>L->S at 610: in CF, MIM: 219700<li>A->T at 613: in CF, MIM: 219700<li>D->G at 614: in CF, MIM: 219700<li>I->T at 618: in CF, MIM: 219700<li>L->S at 619: in CF, MIM: 219700<li>H->P at 620: in CF, MIM: 219700<li>H->Q at 620: in CF, MIM: 219700<li>G->D at 622: in oligospermia, MIM: 219700<li>G->R at 628: in CF, MIM: 219700<li>L->P at 633: in CF, MIM: 219700<li>D->V at 648: in CF, MIM: 219700<li>D->N at 651: in CF, MIM: 219700<li>S->G at 654: in dbSNP:rs1800099, MIM: 219700<li>T->S at 665: in CF, MIM: 219700<li>R->C at 668: in dbSNP:rs1800100, MIM: 219700<li>F->L at 693: in dbSNP:rs1800101, MIM: 219700<li>V->M at 754: in CF, MIM: 219700<li>R->M at 766: in CBAVD, MIM: 277180<li>R->G at 792: in CBAVD, MIM: 277180<li>A->G at 800: in CBAVD, MIM: 277180<li>I->M at 807: in CBAVD; dbSNP:rs1800103, MIM: 277180<li>E->K at 822: in CF, MIM: 219700<li>E->K at 826: in thoracic sarcoidosis, MIM: 219700<li>C->Y at 866: in CF, MIM: 219700<li>Y->H at 903: in dbSNP:rs1800106, MIM: 219700<li>S->I at 909: in dbSNP:rs1800107, MIM: 219700<li>S->L at 912, MIM: 219700<li>Y->C at 913: in CF, MIM: 219700<li>Y->C at 917: in CF, MIM: 219700<li>H->Y at 949: in CF, MIM: 219700<li>M->I at 952: in CF, MIM: 219700<li>L->S at 967: in dbSNP:rs1800110, MIM: 219700<li>L->F at 997: in CF; dbSNP:rs1800111, MIM: 219700<li>I->R at 1005: in CF, MIM: 219700<li>A->E at 1006: in CF, MIM: 219700<li>P->L at 1013: in CF, MIM: 219700<li>M->I at 1028: in CF, MIM: 219700<li>F->V at 1052: in CF, MIM: 219700<li>G->R at 1061: in CF, MIM: 219700<li>L->P at 1065: in CF, MIM: 219700<li>L->R at 1065: in CF, MIM: 219700<li>R->C at 1066: in CF, MIM: 219700<li>R->H at 1066: in CF, MIM: 219700<li>R->L at 1066: in CF, MIM: 219700<li>A->T at 1067: in CF, MIM: 219700<li>A->V at 1067: in dbSNP:rs1800114, MIM: 219700<li>R->P at 1070: in CF, MIM: 219700<li>R->Q at 1070: in CF, MIM: 219700<li>R->W at 1070: in CBAVD, MIM: 277180<li>Q->P at 1071: in CF, MIM: 219700<li>P->L at 1072: in CF, MIM: 219700<li>L->P at 1077: in CF, MIM: 219700<li>H->R at 1085: in CF, MIM: 219700<li>W->R at 1098: in CF, MIM: 219700<li>M->K at 1101: in CF: in dbSNP rsrs36210737, MIM: 219700<li>M->R at 1101: in CF, MIM: 219700<li>M->V at 1137: in CF, MIM: 219700<li>Missing  at 1140: in CF, MIM: 219700<li>D->H at 1152: in CF, MIM: 219700<li>R->L at 1162: in dbSNP:rs1800120, MIM: 219700<li>T->I at 1220: in dbSNP:rs1800123, MIM: 219700<li>I->V at 1234: in CF, MIM: 219700<li>S->R at 1235: in CF: in dbSNP rsrs34911792, MIM: 219700<li>G->E at 1244: in CF, MIM: 219700<li>G->E at 1249: in CF, MIM: 219700<li>S->N at 1251: in CF, MIM: 219700<li>S->P at 1255: in CF, MIM: 219700<li>D->N at 1270: in CF; dbSNP:rs11971167, MIM: 219700<li>W->R at 1282: in CF, MIM: 219700<li>R->M at 1283: in CF, MIM: 219700<li>F->S at 1286: in CF, MIM: 219700<li>Q->H at 1291: in CF, MIM: 219700<li>Q->R at 1291: in CF, MIM: 219700<li>N->H at 1303: in CF, MIM: 219700<li>N->K at 1303: in CF, MIM: 219700<li>G->D at 1349: in CF, MIM: 219700<li>A->V at 1364: in CBAVD, MIM: 277180<li>V->E at 1397: in CF, MIM: 219700<li>R->W at 1453: in dbSNP:rs4148725, MIM: 219700</ul>					plasma membrane	GO:0005886	<li>Q7JII7</li><li>Q07E42</li><li>Q2QL83</li><li>Q2IBE4</li><li>Q7JII8</li><li>Q5U820</li><li>Q2QLE5</li><li>Q07DW5</li><li>Q108U0</li><li>Q2IBA1</li><li>Q2QLC5</li><li>Q2QLA3</li><li>P13569</li><li>Q09YJ4</li><li>Q07DY5</li><li>Q9TUQ2</li><li>P35071</li><li>Q00554</li><li>Q00553</li><li>Q00552</li><li>P26363</li><li>P26362</li><li>P26361</li><li>Q09YH0</li><li>Q00555</li><li>Q2IBB3</li><li>Q2QLF9</li><li>P34158</li><li>Q07DV2</li><li>Q09YK5</li><li>Q2QLH0</li><li>Q2QLB4</li><li>Q2QL74</li><li>Q6PQZ2</li><li>Q9TSP5</li><li>Q5D1Z7</li><li>Q07DZ6</li><li>Q07DX5</li><li>Q2IBF6</li><li>Q07E16</li>	<li>Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]</li><li>Cystic fibrosis (CF) [MIM:219700]</li>	<li>rs1800078</li><li>rs1800079</li><li>rs1800111</li><li>rs1800110</li><li>rs1800074</li><li>rs1800073</li><li>rs1800076</li><li>rs1800114</li><li>rs35032490</li><li>rs1800080</li><li>rs213950</li><li>rs1800085</li><li>rs1800086</li><li>rs1800087</li><li>rs36210737</li><li>rs1800089</li><li>rs34911792</li><li>rs766874</li><li>rs1801178</li><li>rs1800100</li><li>rs1800101</li><li>rs1800103</li><li>rs11971167</li><li>rs1800106</li><li>rs1800107</li><li>rs1800093</li><li>rs1800091</li><li>rs1800092</li><li>rs1800123</li><li>rs1800097</li><li>rs1800098</li><li>rs35516286</li><li>rs1800120</li><li>rs4148725</li><li>rs1800099</li>	2
P13584	1580	<ul><li>R->W at 173: in allele CYP4B1*3 and allele CYP4B1*6; dbSNP:rs4646487<li>R->W at 264: in dbSNP:rs45446505<li>S->G at 322: in allele CYP4B1*4: in dbSNP rsrs45467195<li>Y->S at 329: in dbSNP:rs12094024<li>M->I at 331: in allele CYP4B1*2, allele CYP4B1*7 and allele CYP4B1*5; dbSNP:rs2297810<li>R->C at 340: in allele CYP4B1*2 and allele CYP4B1*7; dbSNP:rs4646491<li>V->I at 345: in allele CYP4B1*6<li>F->C at 354: in dbSNP:rs17102592<li>R->C at 375: in allele CYP4B1*2; dbSNP:rs2297809<li>R->Q at 482: in dbSNP:rs45622937</ul>							<li>P15128</li><li>P13584</li>		<li>rs17102592</li><li>rs2297810</li><li>rs4646487</li><li>rs45467195</li><li>rs2297809</li><li>rs4646491</li><li>rs12094024</li><li>rs45622937</li><li>rs45446505</li>	2
P13591	4684	<ul><li>D->N at 260: in dbSNP:rs17115160<li>E->D at 679: in dbSNP:rs17115280<li>T->M at 834: in dbSNP:rs17174409</ul>									<li>rs17174409</li><li>rs17115280</li><li>rs17115160</li>	2
P13598	3384	<ul><li>A->T at 37: in dbSNP:rs5503<li>R->H at 199: in dbSNP:rs5504<li>R->Q at 256: in dbSNP:rs3764867</ul>									<li>rs3764867</li><li>rs5504</li><li>rs5503</li>	2
P13611	1462	<ul><li>S->L at 300: in dbSNP:rs2652098<li>G->D at 428: in dbSNP:rs2287926<li>K->R at 1516: in dbSNP:rs309559<li>R->H at 1826: in dbSNP:rs188703<li>F->Y at 2301: in dbSNP:rs160278<li>V->L at 2315: in dbSNP:rs3734094<li>D->Y at 2937: in dbSNP:rs160277<li>N->K at 3011: in dbSNP:rs16900532</ul>									<li>rs3734094</li><li>rs188703</li><li>rs16900532</li><li>rs309559</li><li>rs2287926</li><li>rs2652098</li><li>rs160277</li><li>rs160278</li>	2
P13612	3676	<ul><li>S->T at 634: in dbSNP:rs35322532<li>V->A at 824: in dbSNP:rs1143675<li>Q->R at 878: in dbSNP:rs1143676</ul>									<li>rs1143675</li><li>rs1143676</li><li>rs35322532</li>	2
P13631	5916	<ul><li>S->L at 427: in dbSNP:rs2229774<li>G->S at 430: in a breast cancer sample; somatic mutation</ul>									rs2229774	2
P13637	478	<ul><li>I->T at 274: in DYT12, MIM: 128235<li>E->K at 277: in DYT12, MIM: 128235<li>T->M at 613: in DYT12, MIM: 128235<li>I->S at 758: in DYT12, MIM: 128235<li>F->L at 780: in DYT12, MIM: 128235<li>D->Y at 801: in DYT12, MIM: 128235</ul>								Dystonia-12 (DYT12) [MIM:128235]		2
P13645	3858	<ul><li>G->S at 126<li>M->R at 150: in BCIE: in dbSNP rsrs58901407, MIM: 113800<li>M->T at 150: in epidermal nevus epidermolytic hyperkeratotic type, MIM: 600648<li>N->H at 154: in BCIE: in dbSNP rsrs57784225, MIM: 113800<li>R->C at 156: in BCIE, MIM: 113800<li>R->H at 156: in BCIE: in dbSNP rsrs58075662, MIM: 113800<li>R->P at 156: in BCIE, MIM: 113800<li>R->S at 156: in BCIE, MIM: 113800<li>Y->D at 160: in BCIE; severe phenotype: in dbSNP rsrs58414354, MIM: 113800<li>Y->N at 160: in BCIE; severe phenotype, MIM: 113800<li>Y->S at 160: in BCIE; severe phenotype: in dbSNP rsrs58735429, MIM: 113800<li>L->S at 161: in BCIE: in dbSNP rsrs60118264, MIM: 113800<li>R->E at 422: in AEI; requires 2 nucleotide substitutions, MIM: 607602<li>K->E at 439: in BCIE; mild phenotype: in dbSNP rsrs61434181, MIM: 113800<li>L->Q at 442: in BCIE: in dbSNP rsrs58026994, MIM: 113800<li>I->T at 446: in AEI, MIM: 607602</ul>							P08478	<li>Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]</li><li>Epidermal nevus epidermolytic hyperkeratotic type [MIM:600648]</li><li>Ichthyosis annular epidermolytic (AEI) [MIM:607602]</li>	<li>rs58735429</li><li>rs58075662</li><li>rs58414354</li><li>rs60118264</li><li>rs58901407</li><li>rs57784225</li><li>rs58026994</li><li>rs61434181</li>	2
P13646	3860	<ul><li>M->T at 108: in WSN: in dbSNP rsrs60364670, MIM: 193900<li>L->P at 111: in WSN: in dbSNP rsrs59897026, MIM: 193900<li>N->S at 112: in WSN: in dbSNP rsrs59970018, MIM: 193900<li>L->P at 115: in WSN: in dbSNP rsrs60906702, MIM: 193900<li>L->P at 119: in WSN: in dbSNP rsrs60440396, MIM: 193900<li>A->G at 146: in dbSNP:rs760134, MIM: 193900</ul>								White sponge nevus of cannon (WSN) [MIM:193900]	<li>rs59970018</li><li>rs760134</li><li>rs60364670</li><li>rs60440396</li><li>rs59897026</li><li>rs60906702</li>	2
P13647	3852	<ul><li>P->L at 25: in MP-EBS: in dbSNP rsrs57499817, MIM: 131960<li>S->R at 79: in dbSNP:rs1065115, MIM: 131960<li>G->E at 138: in dbSNP:rs11170164, MIM: 131960<li>V->D at 143: in K-EBS: in dbSNP rsrs59851104, MIM: 131900<li>P->L at 152: in WC-EBS: in dbSNP rsrs60617604, MIM: 131800<li>D->V at 158: in WC-EBS: in dbSNP rsrs61222761, MIM: 131800<li>I->S at 161: in WC-EBS: in dbSNP rsrs58058996, MIM: 131800<li>E->K at 167: in WC-EBS: in dbSNP rsrs57378129, MIM: 131800<li>E->K at 168: in DM-EBS: in dbSNP rsrs58619430, MIM: 131760<li>R->P at 169: in DM-EBS: in dbSNP rsrs60720877, MIM: 131760<li>E->K at 170: in K-EBS: in dbSNP rsrs59115483, MIM: 131900<li>K->N at 173: in K-EBS: in dbSNP rsrs58163069, MIM: 131900<li>L->F at 175: in DM-EBS: in dbSNP rsrs57890479, MIM: 131760<li>N->S at 176: in DM-EBS: in dbSNP rsrs59092197, MIM: 131760<li>N->S at 177: in WC-EBS: in dbSNP rsrs61495052, MIM: 131800<li>F->S at 179: in DM-EBS: in dbSNP rsrs57781042, MIM: 131760<li>S->P at 181: in DM-EBS; with laryngeal involvment: in dbSNP rsrs60715293, MIM: 131760<li>V->L at 186: in K-EBS: in dbSNP rsrs61305583, MIM: 131900<li>V->M at 186: in K-EBS, MIM: 131900<li>E->K at 190: in WC-EBS; requires 2 nucleotide substitutions: in dbSNP rsrs58976397, MIM: 131800<li>Q->P at 191: in K-EBS: in dbSNP rsrs57751134, MIM: 131900<li>N->K at 193: in DM-EBS and WC-EBS: in dbSNP rsrs60586163, MIM: 131800<li>D->E at 197: in dbSNP:rs641615, MIM: 131800<li>K->T at 199: in WC-EBS: in dbSNP rsrs58766676, MIM: 131800<li>S->N at 232: in dbSNP:rs3194286, MIM: 131800<li>L->P at 311: in WC-EBS, MIM: 131800<li>V->A at 323: in K-EBS: in dbSNP rsrs59840738, MIM: 131900<li>V->D at 324: in WC-EBS: in dbSNP rsrs59335325, MIM: 131800<li>L->P at 325: in K-EBS: in dbSNP rsrs58107458, MIM: 131900<li>M->K at 327: in WC-EBS, MIM: 131800<li>M->T at 327: in WC-EBS: in dbSNP rsrs58072617, MIM: 131800<li>D->E at 328: in WC-EBS: in dbSNP rsrs59464425, MIM: 131800<li>D->G at 328: in WC-EBS, MIM: 131800<li>D->H at 328: in WC-EBS: in dbSNP rsrs56790237, MIM: 131800<li>D->V at 328: in WC-EBS: in dbSNP rsrs57142010, MIM: 131800<li>N->K at 329: in WC-EBS: in dbSNP rsrs59730172, MIM: 131800<li>R->C at 331: in WC-EBS: in dbSNP rsrs61297109, MIM: 131800<li>R->H at 331: in WC-EBS: in dbSNP rsrs56729325, MIM: 131800<li>R->S at 352: in WC-EBS: in dbSNP rsrs59112594, MIM: 131800<li>S->T at 387: in dbSNP:rs2669875, MIM: 131800<li>K->E at 404: in WC-EBS: in dbSNP rsrs60809982, MIM: 131800<li>E->K at 418: in K-EBS, MIM: 131900<li>A->D at 438: in WC-EBS: in dbSNP rsrs57845028, MIM: 131800<li>L->P at 463: in K-EBS: in dbSNP rsrs57599352, MIM: 131900<li>I->T at 467: in DM-EBS: in dbSNP rsrs60271599, MIM: 131760<li>T->P at 469: in DM-EBS: in dbSNP rsrs60596287, MIM: 131760<li>E->G at 475: in DM-EBS: in dbSNP rsrs61348633, MIM: 131760<li>E->K at 475: in DM-EBS: in dbSNP rsrs57155193, MIM: 131760<li>E->K at 477: in DM-EBS: in dbSNP rsrs59190510, MIM: 131760<li>G->D at 517: in K-EBS: in dbSNP rsrs58608695, MIM: 131900<li>S->G at 528: in dbSNP:rs11549950, MIM: 131900<li>G->S at 543: in dbSNP:rs11549949, MIM: 131900</ul>								<li>Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]</li><li>Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]</li><li>Epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) [MIM:131960]</li><li>Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]</li>	<li>rs59112594</li><li>rs61297109</li><li>rs57751134</li><li>rs60596287</li><li>rs57499817</li><li>rs58107458</li><li>rs58619430</li><li>rs57378129</li><li>rs11549950</li><li>rs60271599</li><li>rs58766676</li><li>rs11549949</li><li>rs59464425</li><li>rs59840738</li><li>rs57142010</li><li>rs58058996</li><li>rs56790237</li><li>rs3194286</li><li>rs58976397</li><li>rs60715293</li><li>rs61495052</li><li>rs57890479</li><li>rs60617604</li><li>rs57155193</li><li>rs59730172</li><li>rs58072617</li><li>rs60809982</li><li>rs57845028</li><li>rs59092197</li><li>rs58163069</li><li>rs61348633</li><li>rs641615</li><li>rs61305583</li><li>rs1065115</li><li>rs59190510</li><li>rs58608695</li><li>rs59851104</li><li>rs57781042</li><li>rs60720877</li><li>rs60586163</li><li>rs57599352</li><li>rs56729325</li><li>rs11170164</li><li>rs59115483</li><li>rs2669875</li><li>rs59335325</li><li>rs61222761</li>	2
P13667	9601	<ul><li>T->M at 173: in dbSNP:rs2290971</ul>									rs2290971	2
P13671	729	<ul><li>A->E at 119: in allotype C6 A; dbSNP:rs1801033<li>K->E at 397: in dbSNP:rs6896011<li>S->F at 470: in dbSNP:rs10462014</ul>									<li>rs6896011</li><li>rs1801033</li><li>rs10462014</li>	2
P13686	54	<ul><li>V->M at 148: in dbSNP:rs2305799<li>V->M at 200: in dbSNP:rs2229531<li>V->I at 221: in dbSNP:rs2229532</ul>									<li>rs2305799</li><li>rs2229532</li><li>rs2229531</li>	2
P13688	634	<ul><li>Q->K at 35: in dbSNP:rs8111171<li>A->V at 83: in dbSNP:rs8110904<li>Q->H at 123: in dbSNP:rs8111468<li>Q->R at 376: in dbSNP:rs41355544</ul>									<li>rs8111468</li><li>rs41355544</li><li>rs8111171</li><li>rs8110904</li>	2
P13693	7178	<ul><li>V->F at 146: in dbSNP:rs3087989</ul>									rs3087989	2
P13716	210	<ul><li>F->L at 12: in an asymptomatic patient with ALAD deficiency; significant reduction of activity<li>K->N at 59: in allele ALAD*2; 10% of population; dbSNP:rs1800435<li>G->R at 133: in AHP, MIM: 125270<li>V->M at 153: in AHP; reduction of activity, MIM: 125270<li>R->W at 240: in AHP, MIM: 125270<li>A->T at 274: in AHP, MIM: 125270<li>V->M at 275: in AHP, MIM: 125270</ul>							<li>Q8CNZ0</li><li>P43210</li><li>Q43058</li><li>P54919</li><li>Q59334</li><li>O84638</li><li>Q9PLU4</li><li>P0C1R9</li><li>P30950</li><li>Q02250</li><li>P0ACB2</li><li>P0ACB3</li><li>Q9ZMR8</li><li>Q6GG37</li><li>Q2FXR3</li><li>Q59295</li><li>Q5R971</li><li>Q42836</li><li>P43087</li><li>Q5HFA4</li><li>O26839</li><li>P56074</li><li>Q9Z7G1</li><li>P45622</li><li>Q6G8Q7</li><li>P45623</li><li>P24493</li><li>O33357</li><li>P30124</li><li>P13716</li><li>P42504</li><li>Q60178</li><li>Q9K8G2</li><li>Q5HNN5</li><li>P64333</li><li>P64335</li><li>P64334</li><li>O67876</li><li>P77923</li><li>Q59643</li><li>Q60HH9</li><li>Q8KCJ0</li><li>O28305</li><li>P77969</li><li>P46723</li><li>Q42682</li>	Acute hepatic porphyria (AHP) [MIM:125270]		2
P13725	5008	<ul><li>T->M at 9: in dbSNP:rs5763919</ul>									rs5763919	2
P13726	2152	<ul><li>T->A at 36: in dbSNP:rs3917604<li>I->V at 145: in dbSNP:rs3917627<li>R->W at 163: in dbSNP:rs5901<li>G->E at 281: in dbSNP:rs3789683</ul>									<li>rs3917604</li><li>rs5901</li><li>rs3789683</li><li>rs3917627</li>	2
P13727	5553	<ul><li>R->C at 179: in a colorectal cancer sample; somatic mutation</ul>										2
P13746		<ul><li>E->K at 43: in allele A*1102<li>F->L at 133: in allele A*1107<li>K->E at 168: in allele A*1105<li>H->R at 175: in allele A*1103<li>A->E at 176: in allele A*1103<li>R->T at 187: in allele A*1104<li>T->S at 345: in allele A*1105</ul>										2
P13747		<ul><li>G->R at 104: in allele E*0102<li>R->G at 128: in allele E*0103 and allele E*0104; dbSNP:rs1264457<li>R->G at 178: in allele E*0104</ul>										2
P13760		<ul><li>D->S at 86: in allele DRB1*0411; requires 2 nucleotide substitutions<li>L->I at 96: in allele DRB1*0402<li>Q->D at 99: in allele DRB1*0402; requires 2 nucleotide substitutions<li>K->E at 100: in allele DRB1*0402<li>K->R at 100: in allele DRB1*0403, allele DRB1*0404 and allele DRB1*0411<li>A->E at 103: in allele DRB1*0403 and allele DRB1*0411<li>G->V at 115: in allele DRB1*0402, allele DRB1*0403, allele DRB1*0404 and allele DRB1*0411</ul>							Q8IUH3			2
P13761		<ul><li>R->S at 58: in allele DRB1*0703<li>T->N at 106: in allele DRB1*0704<li>V->Y at 107: in allele DRB1*0704; requires 2 nucleotide substitutions</ul>							Q8IUH3			2
P13765	3112	<ul><li>R->Q at 18: in allele DOB*0102; dbSNP:rs2071554<li>V->I at 210: in dbSNP:rs11575907<li>L->F at 234: in allele DOB*0104; dbSNP:rs2070121<li>V->I at 244: in allele DOB*0103; dbSNP:rs2621330</ul>									<li>rs2621330</li><li>rs2070121</li><li>rs2071554</li><li>rs11575907</li>	2
P13796	3936	<ul><li>D->E at 24<li>E->K at 533: in dbSNP:rs4941543<li>P->A at 544: in dbSNP:rs17067725</ul>									<li>rs17067725</li><li>rs4941543</li>	2
P13797	5358	<ul><li>D->A at 488: in a breast cancer sample; somatic mutation</ul>										2
P13798	327	<ul><li>T->M at 541: in dbSNP:rs3816877</ul>									rs3816877	2
P13804	2108	<ul><li>G->R at 116: in GA2A, MIM: 231680<li>V->G at 157: in GA2A, MIM: 231680<li>T->I at 171: in dbSNP:rs1801591, MIM: 231680<li>T->M at 266: in GA2A, MIM: 231680</ul>								Glutaric aciduria type 2A (GA2A) [MIM:231680]	rs1801591	2
P13807	2997	<ul><li>I->M at 108: in dbSNP:rs5455<li>K->E at 130: in dbSNP:rs5456<li>N->S at 283: in dbSNP:rs5461<li>E->G at 359: in dbSNP:rs5465<li>M->V at 416: in dbSNP:rs5447<li>G->S at 464: in NIDDM<li>E->Q at 619: in dbSNP:rs5450<li>P->A at 691: in dbSNP:rs5453</ul>									<li>rs5456</li><li>rs5455</li><li>rs5447</li><li>rs5453</li><li>rs5461</li><li>rs5450</li><li>rs5465</li>	2
P13866	6523	<ul><li>D->G at 28: in GGM, MIM: 606824<li>D->N at 28: in GGM, MIM: 606824<li>N->S at 51: in dbSNP:rs17683011, MIM: 606824<li>R->W at 135: in GGM; loss of activity, MIM: 606824<li>G->R at 318: in GGM, MIM: 606824<li>A->T at 411: in dbSNP:rs17683430, MIM: 606824<li>A->V at 468: in GGM, MIM: 606824</ul>								Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	<li>rs17683430</li><li>rs17683011</li>	2
P13928	244	<ul><li>S->A at 6<li>G->A at 177: in dbSNP:rs3013886</ul>									rs3013886	2
P13929	2027	<ul><li>N->S at 71: in dbSNP:rs238238<li>V->A at 85: in dbSNP:rs238239<li>G->D at 156: in muscle-specific beta-enolase deficiency; when associated with E-374<li>G->E at 374: in muscle-specific beta-enolase deficiency; when associated with D-156</ul>							<li>P15429</li><li>P13929</li><li>P07322</li><li>P25704</li><li>P21550</li>		<li>rs238239</li><li>rs238238</li>	2
P13942	1302	<ul><li>P->S at 236: in dbSNP:rs35116188<li>E->K at 276: in dbSNP:rs9277934<li>D->G at 593<li>P->T at 621: in DFNB53, MIM: 609706<li>G->R at 661: in OSMED, MIM: 215150<li>G->E at 808: in DFNA13, MIM: 601868<li>E->K at 824: in dbSNP:rs1799909, MIM: 601868<li>P->L at 879, MIM: 601868<li>P->L at 894: in dbSNP:rs2855430, MIM: 601868<li>Missing  at 940-948: in STL3, MIM: 601868<li>R->C at 1034: in DFNA13, MIM: 601868<li>P->T at 1316: in dbSNP:rs2229784, MIM: 601868<li>G->E at 1441: in WZS, MIM: 277610<li>R->Q at 1600: in dbSNP:rs1799912, MIM: 277610<li>E->D at 1628: in dbSNP:rs2229790, MIM: 277610<li>P->L at 1722: in dbSNP:rs2229792, MIM: 277610</ul>								<li>Non-syndromic sensorineural deafness autosomal recessive type 53 (DFNB53) [MIM:609706]</li><li>Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]</li><li>Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 13 (DFNA13) [MIM:601868]</li>	<li>rs2855430</li><li>rs2229790</li><li>rs1799909</li><li>rs9277934</li><li>rs2229792</li><li>rs1799912</li><li>rs2229784</li><li>rs35116188</li>	2
P13945	155	<ul><li>W->R at 64: in dbSNP:rs4994<li>E->K at 249: in dbSNP:rs28364012<li>T->M at 265: in dbSNP:rs4995<li>R->C at 353: in dbSNP:rs36031925</ul>									<li>rs4995</li><li>rs28364012</li><li>rs4994</li><li>rs36031925</li>	2
P13994	81576	<ul><li>S->C at 22: in dbSNP:rs12974461<li>C->S at 336: in dbSNP:rs35761244</ul>									<li>rs35761244</li><li>rs12974461</li>	2
P14060	3283	<ul><li>T->I at 54: in dbSNP:rs3088283<li>R->I at 71: in dbSNP:rs4986952<li>I->V at 79: in dbSNP:rs6201<li>G->S at 90: in dbSNP:rs6684974<li>F->L at 286: in dbSNP:rs6205<li>T->N at 367: in dbSNP:rs1047303</ul>									<li>rs3088283</li><li>rs6684974</li><li>rs1047303</li><li>rs6201</li><li>rs4986952</li><li>rs6205</li>	2
P14061	3292	<ul><li>A->V at 238<li>S->G at 313: in dbSNP:rs605059</ul>									rs605059	2
P14091	1510	<ul><li>T->I at 329: in dbSNP:rs6503</ul>									rs6503	2
P14136	2670	<ul><li>P->L at 47: in Alexander disease; could be a polymorphism: in dbSNP rsrs57474185, MIM: 203450<li>L->F at 76: in Alexander disease: in dbSNP rsrs57120761, MIM: 203450<li>N->Y at 77: in Alexander disease: in dbSNP rsrs58732244, MIM: 203450<li>D->E at 78: in Alexander disease; adult form, MIM: 203450<li>R->C at 79: in Alexander disease: in dbSNP rsrs59793293, MIM: 203450<li>R->H at 79: in Alexander disease: in dbSNP rsrs59285727, MIM: 203450<li>R->C at 88: in Alexander disease: in dbSNP rsrs61622935, MIM: 203450<li>R->S at 88: in Alexander disease, MIM: 203450<li>E->Q at 223: in Alexander disease; adult form: in dbSNP rsrs56679084, MIM: 203450<li>R->C at 239: in Alexander disease: in dbSNP rsrs58064122, MIM: 203450<li>R->H at 239: in Alexander disease: in dbSNP rsrs59565950, MIM: 203450<li>A->V at 244: in Alexander disease: in dbSNP rsrs61497286, MIM: 203450<li>R->P at 258: in Alexander disease: in dbSNP rsrs61726468, MIM: 203450<li>D->N at 295: in dbSNP:rs1126642, MIM: 203450<li>E->D at 362: in Alexander disease: in dbSNP rsrs28932768, MIM: 203450<li>R->W at 416: in Alexander disease, MIM: 203450</ul>								Alexander disease [MIM:203450]	<li>rs59793293</li><li>rs56679084</li><li>rs28932768</li><li>rs57120761</li><li>rs59285727</li><li>rs58064122</li><li>rs61726468</li><li>rs57474185</li><li>rs1126642</li><li>rs59565950</li><li>rs61622935</li><li>rs58732244</li><li>rs61497286</li>	2
P14138	1908	<ul><li>A->T at 17: in HSCR1; dbSNP:rs11570255, MIM: 142623<li>Y->C at 127: in WS4, MIM: 277580<li>C->F at 159: in WS4, MIM: 277580<li>A->T at 224: in HSCR1; dbSNP:rs11570351, MIM: 142623</ul>								<li>Hirschsprung disease type 1 (HSCR1) [MIM:142623]</li><li>Waardenburg syndrome type IV (WS4) [MIM:277580]</li>	<li>rs11570351</li><li>rs11570255</li>	2
P14151	6402	<ul><li>F->L at 193: in dbSNP:rs1131498<li>E->Q at 201: in dbSNP:rs2229568<li>P->S at 213: in dbSNP:rs2229569<li>N->D at 369: in dbSNP:rs4987382</ul>									<li>rs2229569</li><li>rs4987382</li><li>rs1131498</li><li>rs2229568</li>	2
P14207	2350	<ul><li>H->N at 236: in a breast cancer sample; somatic mutation</ul>										2
P14209	4267	<ul><li>M->V at 166: in dbSNP:rs11556080<li>N->I at 173: in dbSNP:rs4717</ul>									<li>rs4717</li><li>rs11556080</li>	2
P14210	3082	<ul><li>S->I at 153: in dbSNP:rs17566<li>E->K at 304: in dbSNP:rs5745687<li>D->Y at 330: in dbSNP:rs5745688</ul>									<li>rs5745687</li><li>rs17566</li><li>rs5745688</li>	2
P14222	5551	<ul><li>V->M at 50: in FHL2, MIM: 603553<li>A->V at 91: in dbSNP:rs35947132, MIM: 603553<li>R->H at 123, MIM: 603553<li>V->M at 135: in dbSNP:rs12263572, MIM: 603553<li>V->G at 183: in FHL2, MIM: 603553<li>I->N at 224: in FHL2, MIM: 603553<li>R->W at 225: in FHL2; dbSNP:rs28933973, MIM: 603553<li>N->S at 252: in FHL2; dbSNP:rs28933375, MIM: 603553<li>C->Y at 279: in FHL2, MIM: 603553<li>Missing  at 285: in FHL2, MIM: 603553<li>P->L at 345: in FHL2; dbSNP:rs28933374, MIM: 603553<li>G->E at 429: in FHL2, MIM: 603553</ul>							Q14192	Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]	<li>rs35947132</li><li>rs12263572</li><li>rs28933374</li><li>rs28933973</li><li>rs28933375</li>	2
P14314	5589	<ul><li>S->N at 74: in dbSNP:rs10406672<li>A->T at 291: in dbSNP:rs11557488<li>A->G at 338: in dbSNP:rs35847588</ul>									<li>rs10406672</li><li>rs35847588</li><li>rs11557488</li>	2
P14324	2224	<ul><li>I->V at 391: in dbSNP:rs17456</ul>									rs17456	2
P14384	1368	<ul><li>R->H at 24: in dbSNP:rs7978197<li>V->I at 133: in dbSNP:rs7309831</ul>									<li>rs7978197</li><li>rs7309831</li>	2
P14406	1347	<ul><li>E->D at 40</ul>										2
P14410	6476	<ul><li>V->F at 15: in dbSNP:rs9290264<li>Q->R at 117: in CSID; missorting of the enzyme to the basolateral membrane, MIM: 222900<li>A->T at 231: in dbSNP:rs9283633, MIM: 222900<li>L->P at 341: in CSID; causes loss of anchored SI from the membrane, MIM: 222900<li>V->G at 577: in CSID, MIM: 222900<li>S->P at 594: in CSID, MIM: 222900<li>L->P at 620: in CSID; SI accumulates predominantly in the ER, MIM: 222900<li>T->P at 694: in CSID, MIM: 222900<li>G->D at 1073: in CSID, MIM: 222900<li>Q->P at 1098: in CSID; exhibits intracellular accumulation of mannose-rich SI in the Golgi, MIM: 222900<li>C->Y at 1229: in CSID, MIM: 222900<li>R->G at 1367: in CSID, MIM: 222900<li>I->M at 1523: in dbSNP:rs4855271, MIM: 222900<li>F->C at 1745: in CSID, MIM: 222900<li>T->S at 1802: in dbSNP:rs9917722, MIM: 222900</ul>					<li>intracellular</li><li>membrane</li><li>ER</li>	<li>GO:0005622</li><li>GO:0016020</li><li>GO:0005783</li>		Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	<li>rs9290264</li><li>rs9283633</li><li>rs9917722</li><li>rs4855271</li>	2
P14415	482	<ul><li>T->A at 199: in dbSNP:rs2227866</ul>									rs2227866	2
P14416	1813	<ul><li>V->I at 154: in DYT11; the contribution to this phenotype is unclear, MIM: 159900<li>P->S at 310: in dbSNP:rs1800496, MIM: 159900<li>S->C at 311: associated with schizophrenia; dbSNP:rs1801028, MIM: 159900</ul>								Myoclonus dystonia (MD) [MIM:159900]	<li>rs1801028</li><li>rs1800496</li>	2
P14543	4811	<ul><li>I->V at 246: in dbSNP:rs10733133<li>Q->R at 669: in dbSNP:rs3738534<li>F->S at 1036: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3738534</li><li>rs10733133</li>	2
P14550	10327	<ul><li>N->S at 52: in dbSNP:rs2229540</ul>									rs2229540	2
P14555	5320	<ul><li>H->Y at 19: in dbSNP:rs11573162</ul>									rs11573162	2
P14598	653361	<ul><li>R->Q at 42: in CGD1, MIM: 233700<li>R->H at 90: in dbSNP:rs13447, MIM: 233700<li>S->G at 99: in dbSNP rsrs17856077, MIM: 233700<li>T->S at 160, MIM: 233700<li>D->N at 166: in dbSNP:rs4868, MIM: 233700<li>K->E at 258, MIM: 233700<li>G->S at 262, MIM: 233700<li>A->V at 308: in dbSNP:rs13739, MIM: 233700</ul>								Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	<li>rs13447</li><li>rs13739</li><li>rs17856077</li><li>rs4868</li>	2
P14616	3645	<ul><li>A->E at 127: in dbSNP rsrs55757706<li>A->V at 161: in dbSNP rsrs55971900<li>R->H at 244: in dbSNP rsrs55951840<li>C->R at 246: in dbSNP rsrs56377825<li>E->Q at 278: in a lung adenocarcinoma sample; somatic mutation<li>R->C at 554: in dbSNP rsrs56068937<li>P->L at 928: in dbSNP rsrs56252149<li>G->E at 1065: in a glioblastoma multiforme sample; somatic mutation</ul>									<li>rs55757706</li><li>rs56377825</li><li>rs55951840</li><li>rs56252149</li><li>rs56068937</li><li>rs55971900</li>	2
P14618	5315	<ul><li>G->V at 204: in dbSNP:rs17853396</ul>									rs17853396	2
P14619	5592	<ul><li>I->V at 264: in dbSNP rsrs56082459<li>N->S at 282: in dbSNP:rs34997494</ul>									<li>rs34997494</li><li>rs56082459</li>	2
P14651	3213	<ul><li>P->T at 82: in dbSNP:rs2229304</ul>									rs2229304	2
P14653	3211	<ul><li>A->AHSA at 27: in allele HOXB1*B</ul>							<li>Q90346</li><li>P31259</li><li>P14653</li>			2
P14672	6517	<ul><li>S->R at 55: in dbSNP:rs35198331<li>T->S at 78: in dbSNP:rs5434<li>A->V at 358: in dbSNP:rs8192702<li>V->I at 383: in NIDDM, MIM: 125853<li>I->T at 385, MIM: 125853</ul>								Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs35198331</li><li>rs5434</li><li>rs8192702</li>	2
P14678	6628	<ul><li>S->P at 79: in dbSNP:rs11545672</ul>									rs11545672	2
P14679	7299	<ul><li>H->Q at 19: in OCA-IA, MIM: 203100<li>P->S at 21: in OCA-IA, MIM: 203100<li>C->Y at 36: in OCA-IA, MIM: 203100<li>D->G at 42: in OCA-IA; dbSNP:rs28940878, MIM: 203100<li>S->G at 44: in OCA-IA, MIM: 203100<li>S->R at 44: in OCA-IA, MIM: 203100<li>G->D at 47: in OCA-IA, MIM: 203100<li>G->V at 47: in OCA-IA, MIM: 203100<li>R->I at 52: in OCA-I, MIM: 203100<li>C->Y at 55: in OCA-IA; dbSNP:rs28940879, MIM: 203100<li>Q->H at 68: in OCA-IA, MIM: 203100<li>R->Q at 77: in OCA-IA, MIM: 203100<li>R->RR at 77: in OCA-IA, MIM: 203100<li>R->W at 77: in OCA-IA and OCA-IB, MIM: 606952<li>S->L at 79: in OCA-IA, MIM: 203100<li>W->R at 80: in OCA-IA, MIM: 203100<li>P->L at 81: in OCA-IA; dbSNP:rs28940876, MIM: 203100<li>C->R at 89: in OCA-IA; dbSNP:rs28940877, MIM: 203100<li>G->R at 97: in OCA-IA, MIM: 203100<li>G->R at 109: in OCA-IA, MIM: 203100<li>F->C at 134: in dbSNP:rs33955261, MIM: 203100<li>K->N at 142: in dbSNP:rs11545463, MIM: 203100<li>P->S at 152: in OCA-IB, MIM: 606952<li>T->S at 155: in OCA-IA, MIM: 203100<li>F->I at 176: in OCA-IA, MIM: 203100<li>V->F at 177: in OCA-IA, MIM: 203100<li>M->L at 179: in OCA-IA, MIM: 203100<li>H->N at 180: in OCA-IA, MIM: 203100<li>S->Y at 192: associated with SHEP3; light/dark skin; dbSNP:rs1042602: in dbSNP rsrs61569485,rs1042602, MIM: 203100<li>D->N at 199: in OCA-IA, MIM: 203100<li>A->S at 201: in OCA-IA, MIM: 203100<li>P->T at 205: in OCA-IA, MIM: 203100<li>A->T at 206: in OCA-IA; dbSNP:rs28940880, MIM: 203100<li>L->M at 216: in OCA-IA, MIM: 203100<li>R->G at 217: in OCA-IA, MIM: 203100<li>R->Q at 217: in OCA-IA, MIM: 203100<li>R->S at 217: in OCA-IA, MIM: 203100<li>R->W at 217: in OCA-IA, MIM: 203100<li>Missing  at 217: in OCA-IA, MIM: 203100<li>Missing  at 227: in OCA-IA, MIM: 203100<li>W->L at 236: in OCA-IA, MIM: 203100<li>W->S at 236: in OCA-IA, MIM: 203100<li>R->W at 239: in OCA-IA, MIM: 203100<li>D->V at 240: in OCA-IA, MIM: 203100<li>K->T at 243: in OCA-IA, MIM: 203100<li>G->R at 253: in OCA-IA, MIM: 203100<li>H->Y at 256: in OCA-IA, MIM: 203100<li>W->C at 272: in OCA-IA, MIM: 203100<li>V->F at 275: in OCA-IB, MIM: 606952<li>L->S at 288: in OCA-IA, MIM: 203100<li>C->G at 289: in OCA-IA, MIM: 203100<li>C->R at 289: in OCA-IA, MIM: 203100<li>E->G at 294: in OCA-IA, MIM: 203100<li>E->K at 294: in OCA-IA/IB, MIM: 203100<li>R->H at 299: in OCA-IA, MIM: 203100<li>R->S at 299: in OCA-IB, MIM: 606952<li>R->T at 308: in dbSNP:rs1042608, MIM: 606952<li>L->V at 312: in OCA-I, MIM: 606952<li>P->R at 313: in OCA-I, MIM: 606952<li>V->E at 318: in OCA-IA, MIM: 203100<li>T->A at 325: in OCA-IB, MIM: 606952<li>E->Q at 328: in OCA-IA, MIM: 203100<li>S->P at 329: in OCA-IA, MIM: 203100<li>M->T at 332: in OCA-IA, MIM: 203100<li>S->G at 339: in OCA-IA, MIM: 203100<li>F->L at 340: in OCA-I, MIM: 203100<li>E->G at 345: in OCA-IA, MIM: 203100<li>G->E at 346: in OCA-IA, MIM: 203100<li>A->E at 355: in OCA-IA, MIM: 203100<li>A->P at 355: in OCA-IA and OCA-IB, MIM: 606952<li>S->R at 361: in OCA-IA, MIM: 203100<li>H->Y at 367: in OCA, MIM: 203100<li>M->T at 370: in OCA-IA, MIM: 203100<li>N->T at 371: in OCA-IA, MIM: 203100<li>N->Y at 371: in OCA-IA, MIM: 203100<li>T->K at 373: in OCA-IA, MIM: 203100<li>Q->K at 378: in OCA-IA, MIM: 203100<li>S->P at 380: in OCA-IB, MIM: 606952<li>N->K at 382: in OCA-IA, MIM: 203100<li>D->N at 383: in OCA-IA, MIM: 203100<li>H->D at 390: in OCA-IB, MIM: 606952<li>V->F at 393: in OCA-IA, MIM: 203100<li>S->N at 395: in OCA-IA, MIM: 203100<li>S->R at 395: in OCA-IA, MIM: 203100<li>E->A at 398: in OCA-IA, MIM: 203100<li>E->V at 398: in OCA-IA, MIM: 203100<li>W->L at 400: in OCA-IA, MIM: 203100<li>R->G at 402: in OCA-IB, MIM: 606952<li>R->L at 402: in OCA-IA, MIM: 203100<li>R->Q at 402: in dbSNP:rs1126809, MIM: 203100<li>R->S at 403: in OCA-IA and OCA-IB, MIM: 606952<li>H->N at 404: in OCA-IA, MIM: 203100<li>H->P at 404: in OCA-I, MIM: 203100<li>R->L at 405: in OCA-IA, MIM: 203100<li>P->L at 406: in OCA-IA and OCA-IB, MIM: 606952<li>Q->H at 408: in OCA-IA, MIM: 203100<li>E->D at 409: in OCA-IA, MIM: 203100<li>A->S at 416: in OCA-IA, MIM: 203100<li>P->H at 417: in OCA-IA, MIM: 203100<li>G->R at 419: in OCA-IA, MIM: 203100<li>R->Q at 422: in OCA-ITS and OCA-IA, MIM: 203100<li>S->F at 424: in OCA-IA, MIM: 203100<li>M->K at 426: in OCA-IA, MIM: 203100<li>V->G at 427: in OCA-IA, MIM: 203100<li>P->L at 431: in OCA-IA, MIM: 203100<li>R->I at 434: in OCA-IA, MIM: 203100<li>N->D at 435: in OCA-IA, MIM: 203100<li>F->V at 439: in OCA-IA, MIM: 203100<li>D->G at 444: in OCA-IA, MIM: 203100<li>G->S at 446: in OCA-IA, MIM: 203100<li>D->N at 448: in OCA-IA and OCA-IB, MIM: 606952</ul>								<li>Oculocutaneous albinism type IA (OCA-IA) [MIM:203100]</li><li>Oculocutaneous albinism type I temperature-sensitive (OCA-ITS) [MIM:606952]</li><li>Oculocutaneous albinism type IB (OCA-IB) [MIM:606952]</li>	<li>rs33955261</li><li>rs1126809</li><li>rs28940880</li><li>rs1042608</li><li>rs11545463</li><li>rs61569485</li><li>rs28940879</li><li>rs28940876</li><li>rs1042602</li><li>rs28940877</li><li>rs28940878</li>	2
P14735	3416	<ul><li>E->K at 612: in dbSNP:rs2229708</ul>									rs2229708	2
P14770	2815	<ul><li>L->P at 7: in BSS, MIM: 231200<li>C->R at 24: in BSS: in dbSNP rsrs28933378, MIM: 231200<li>D->G at 37: in BSS, MIM: 231200<li>L->P at 56: in BSS: in dbSNP rsrs28933377, MIM: 231200<li>N->S at 61: in BSS; dbSNP:rs5030764, MIM: 231200<li>F->S at 71: in BSS, MIM: 231200<li>C->Y at 113: in BSS, MIM: 231200<li>A->T at 156: in BSS: in dbSNP rsrs3796130, MIM: 231200</ul>								Bernard-Soulier syndrome (BSS) [MIM:231200]	<li>rs28933377</li><li>rs28933378</li><li>rs3796130</li><li>rs5030764</li>	2
P14778	3554	<ul><li>A->G at 124: in dbSNP:rs2228139<li>T->M at 344: in dbSNP:rs28362304</ul>									<li>rs28362304</li><li>rs2228139</li>	2
P14780	4318	<ul><li>A->V at 20: in dbSNP:rs1805088<li>N->S at 38: in dbSNP:rs41427445<li>E->K at 82: in dbSNP:rs1805089<li>N->K at 127: in dbSNP:rs3918252<li>R->H at 239: in dbSNP:rs28763886<li>Q->R at 279: common polymorphism; may be associated with susceptibility to LDH; dbSNP:rs17576<li>F->V at 571: in dbSNP:rs35691798<li>P->R at 574: in dbSNP:rs2250889<li>R->Q at 668: in dbSNP:rs17577</ul>							<li>Q95028</li><li>Q27888</li><li>Q27797</li><li>P93052</li><li>P33571</li><li>P29038</li><li>Q99289</li>		<li>rs41427445</li><li>rs2250889</li><li>rs28763886</li><li>rs1805088</li><li>rs35691798</li><li>rs17576</li><li>rs17577</li><li>rs3918252</li><li>rs1805089</li>	2
P14784	3560	<ul><li>S->F at 83: in dbSNP:rs2228143<li>D->E at 391: in dbSNP:rs228942</ul>									<li>rs228942</li><li>rs2228143</li>	2
P14854	1340	<ul><li>R->H at 20: in two siblings with severe infantile encephalomyopathy</ul>										2
P14859	5451	<ul><li>S->F at 88: in a breast cancer sample; somatic mutation</ul>										2
P14867	2554	<ul><li>A->D at 322: in EJM, MIM: 606904</ul>								Juvenile myoclonic epilepsy (EJM) [MIM:606904]		2
P14868	1615	<ul><li>L->F at 426: in dbSNP:rs1803165</ul>									rs1803165	2
P14902	3620	<ul><li>A->T at 4: in dbSNP:rs35059413</ul>									rs35059413	2
P14923	3728	<ul><li>S->SS at 39: in ARVD12; affects the structure and distribution of mechanical and electrical cell junctions<li>M->L at 697: in dbSNP:rs1126821</ul>					cell junctions	GO:0030054			rs1126821	2
P14927	7381	<ul><li>L->P at 30: in dbSNP:rs35895613</ul>									rs35895613	2
P15056	673	<ul><li>A->P at 246: in CFC syndrome, MIM: 115150<li>Q->R at 257: in CFC syndrome, MIM: 115150<li>P->S at 301: in dbSNP rsrs34776339, MIM: 115150<li>R->I at 462: in colorectal cancer, MIM: 114500<li>I->S at 463: in colorectal cancer, MIM: 114500<li>G->E at 464: in colorectal cancer, MIM: 114500<li>G->V at 464: in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation, MIM: 114500<li>G->A at 466: in melanoma, MIM: 114500<li>G->E at 466: in melanoma, MIM: 114500<li>G->V at 466: in lung cancer, MIM: 211980<li>S->A at 467: in CFC syndrome, MIM: 115150<li>F->S at 468: in CFC syndrome, MIM: 115150<li>G->A at 469: in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation, MIM: 605027<li>G->E at 469: in CFC syndrome and colon cancer, MIM: 115150<li>G->R at 469: in NHL, MIM: 605027<li>G->V at 469: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 605027<li>L->F at 485: in CFC syndrome, MIM: 115150<li>K->E at 499: in CFC syndrome, MIM: 115150<li>E->G at 501: in CFC syndrome, MIM: 115150<li>E->K at 501: in CFC syndrome, MIM: 115150<li>N->D at 581: in CFC syndrome, MIM: 115150<li>N->S at 581: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 115150<li>E->K at 586: in ovarian cancer, MIM: 115150<li>D->G at 594: in NHL, MIM: 605027<li>F->L at 595: in colon cancer, MIM: 605027<li>G->R at 596: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 605027<li>G->V at 596: in CFC syndrome, MIM: 115150<li>L->R at 597: in lung cancer and ovarian cancer; ovarian serous carcinoma sample; somatic mutation, MIM: 211980<li>L->V at 597: in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation, MIM: 211980<li>V->D at 600: in a melanoma cell line; requires 2 nucleotide substitutions, MIM: 211980<li>V->E at 600: in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma; somatic mutation; most common mutation; elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis, MIM: 211980<li>K->E at 601: in colorectal cancer, MIM: 114500</ul>	apoptosis	GO:0006915	kinase activity	GO:0016301			Q9NZ71	<li>Non-Hodgkin lymphoma (NHL) [MIM:605027]</li><li>Lung cancer [MIM:211980]</li><li>Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]</li><li>Colorectal cancer (CRC) [MIM:114500]</li>	rs34776339	2
P15085	1357	<ul><li>A->T at 208: in dbSNP:rs34474469<li>H->R at 276: in dbSNP:rs17849959</ul>									<li>rs17849959</li><li>rs34474469</li>	2
P15086	1360	<ul><li>D->N at 208: in dbSNP:rs1059502</ul>									rs1059502	2
P15088	1359	<ul><li>A->S at 81: in dbSNP:rs2270523<li>M->T at 171: in dbSNP:rs12489516</ul>									<li>rs12489516</li><li>rs2270523</li>	2
P15090	2167	<ul><li>E->D at 23: in a breast cancer sample; somatic mutation</ul>										2
P15104	2752	<ul><li>R->C at 324: in CSGD; reduced glutamine synthetase activity, MIM: 610015<li>R->C at 341: in CSGD; suggests reduced glutamine synthetase activity, MIM: 610015</ul>							<li>P0A1P6</li><li>Q9CDL9</li><li>P0A1P7</li><li>Q96UV5</li><li>P94126</li><li>P15105</li><li>Q75BT9</li><li>P15106</li><li>P0A040</li><li>P15103</li><li>P15104</li><li>P12424</li><li>P43518</li><li>P36205</li><li>P12425</li><li>P16580</li><li>P11600</li><li>Q9ZLW5</li><li>Q9UY99</li><li>O29313</li><li>Q9KNJ2</li><li>O27612</li><li>Q8X169</li><li>P19064</li><li>O08467</li><li>Q8HZM5</li><li>O66514</li><li>Q6GHC6</li><li>P19904</li><li>Q96UG9</li><li>Q86ZF9</li><li>O00088</li><li>Q05650</li><li>Q4R7U3</li><li>O04867</li><li>Q9C2U9</li><li>Q09179</li><li>P46410</li><li>Q9HH09</li><li>P25821</li><li>Q9QY94</li><li>O58097</li><li>P10656</li><li>P77961</li><li>Q04831</li><li>Q9HU65</li><li>P94845</li><li>P13499</li><li>P15124</li><li>P0A039</li><li>Q874T6</li><li>Q96V52</li><li>Q06378</li><li>P21154</li><li>Q60182</li><li>Q6B4U7</li><li>Q6FMT6</li><li>P07804</li><li>P51121</li><li>P22248</li><li>P51120</li><li>Q86ZU6</li><li>Q6G9Q4</li><li>Q5HGC3</li><li>P10583</li><li>Q8CSR8</li><li>Q9UUN6</li><li>Q12613</li><li>Q9CLP2</li><li>Q9HNI2</li><li>P33035</li><li>P43794</li><li>Q05907</li><li>P99095</li><li>P23712</li><li>Q6C3E0</li><li>P0A9C7</li><li>P0A9C8</li><li>P00964</li><li>P28605</li><li>P45627</li><li>P0A9C5</li><li>P15623</li><li>P0A9C6</li><li>P43386</li><li>P09606</li><li>P23794</li><li>Q8J1R3</li><li>P04773</li><li>P60890</li><li>P32288</li><li>Q5HPN2</li><li>O59648</li><li>P28786</li><li>P20479</li>	Congenital systemic glutamine deficiency (CSGD) [MIM:610015]		2
P15121	231	<ul><li>I->F at 15: in dbSNP:rs5054<li>H->L at 42: in dbSNP:rs5056<li>L->V at 73: in dbSNP:rs5057<li>K->E at 90: in dbSNP:rs2229542<li>G->S at 204: in dbSNP:rs5061<li>T->I at 288: in dbSNP:rs5062</ul>									<li>rs5054</li><li>rs5062</li><li>rs5057</li><li>rs5056</li><li>rs5061</li><li>rs2229542</li>	2
P15144	290	<ul><li>V->M at 20: in dbSNP:rs10152474<li>R->Q at 86: in dbSNP:rs25653<li>D->Y at 242<li>L->P at 243<li>A->V at 311: in dbSNP:rs17240268<li>T->M at 321: in dbSNP:rs8179199<li>I->K at 603: in dbSNP:rs17240212<li>I->M at 603: in dbSNP:rs8192297<li>S->N at 752: in dbSNP:rs25651</ul>									<li>rs8192297</li><li>rs8179199</li><li>rs25653</li><li>rs25651</li><li>rs17240268</li><li>rs17240212</li><li>rs10152474</li>	2
P15151	5817	<ul><li>A->T at 67: in dbSNP:rs1058402<li>A->T at 295: in dbSNP:rs35365841<li>I->M at 340: in dbSNP:rs203710</ul>									<li>rs35365841</li><li>rs203710</li><li>rs1058402</li>	2
P15153	5880	<ul><li>P->L at 29: in a breast cancer sample; somatic mutation<li>D->N at 57: in neutrophil immunodeficiency syndrome; dominant-negative mutant; binds GDP, but not GTP; inhibits oxidase activation and superoxide anion production in vitro, MIM: 608203</ul>								Neutrophil immunodeficiency syndrome [MIM:608203]		2
P15157		<ul><li>R->P at 15: in alpha-II<li>K->Q at 221: in alpha-II; dbSNP:rs1137382</ul>							<li>P01939</li><li>Q08862</li>			2
P15169	1369	<ul><li>G->D at 178: in carboxypeptidase N deficiency, MIM: 212070</ul>								Carboxypeptidase N deficiency [MIM:212070]		2
P15172	4654	<ul><li>E->K at 262: in a breast cancer sample; somatic mutation<li>A->V at 309: in a breast cancer sample; somatic mutation</ul>										2
P15248	3578	<ul><li>T->M at 117: in dbSNP:rs2069885</ul>									rs2069885	2
P15259	5224	<ul><li>E->A at 89: in myopathy, MIM: 261670<li>R->W at 90: in myopathy, MIM: 261670<li>G->D at 97: in myopathy, MIM: 261670</ul>								Myopathy [MIM:261670]		2
P15260	3459	<ul><li>V->I at 61: in dbSNP:rs17175322<li>C->Y at 77: in MSMD; fails to bind IFN-gamma, MIM: 209950<li>I->T at 87: in MSMD; impaired response to IFN-gamma, MIM: 209950<li>Missing  at 99-102: in MSMD; fails to bind IFN-gamma, MIM: 209950<li>H->P at 335: in dbSNP:rs17175350, MIM: 209950<li>L->P at 467: in dbSNP:rs1887415, MIM: 209950</ul>							<li>O35735</li><li>P63309</li><li>Q25BC0</li><li>P07353</li><li>Q9TTB0</li><li>O57608</li><li>O77763</li><li>P46402</li><li>O57603</li><li>Q2PE75</li><li>Q866Y6</li><li>P79154</li><li>P28341</li><li>Q9TV67</li><li>P01579</li><li>Q865Y4</li><li>Q4ZH68</li><li>P17803</li><li>P30123</li><li>P42160</li><li>P42161</li><li>P42162</li><li>Q865W6</li><li>P63310</li><li>Q8MKF5</li><li>P63311</li><li>O35497</li><li>Q9QXX2</li><li>Q62574</li><li>O57571</li><li>Q7TSP4</li><li>Q9YGB9</li><li>Q647G2</li><li>Q865X1</li><li>P49708</li><li>P17773</li><li>O73915</li><li>Q1WM28</li><li>P01581</li><li>Q8SPW9</li><li>P01580</li><li>Q5CCK0</li><li>Q5I6S9</li><li>P28333</li>	Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	<li>rs17175322</li><li>rs1887415</li><li>rs17175350</li>	2
P15289	410	<ul><li>A->D at 18: in MLD; enzyme activity reduced to 5% of wild-type enzyme, MIM: 250100<li>D->N at 29: in MLD; infantile-onset; causes a severe reduction of enzyme activity, MIM: 250100<li>D->H at 30: in MLD; enzyme activity reduced to 2.4% of wild-type enzyme, MIM: 250100<li>G->S at 32: in MLD; late-infantile form, MIM: 250100<li>L->P at 68: in MLD; late-infantile form, MIM: 250100<li>L->P at 76, MIM: 250100<li>P->L at 82: in MLD; late-infantile-onset; dbSNP:rs6151411, MIM: 250100<li>R->Q at 84: in MLD; mild, MIM: 250100<li>R->W at 84: in MLD; juvenile form, MIM: 250100<li>G->D at 86: in MLD; severe; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment, MIM: 250100<li>P->A at 94: in MLD; adult form, MIM: 250100<li>S->N at 95: in MLD, MIM: 250100<li>S->F at 96: in MLD; severe, MIM: 250100<li>S->L at 96: in MLD; severe; no enzyme residual activity, MIM: 250100<li>G->D at 99: in MLD; adult type, MIM: 250100<li>G->V at 99: in MLD; late-infantile form, MIM: 250100<li>G->R at 119: in MLD; juvenile-onset, MIM: 250100<li>G->S at 122: in MLD; adult type, MIM: 250100<li>L->P at 135: in MLD, MIM: 250100<li>P->L at 136: in MLD; severe late-infantile type; loss of enzymatic activity, MIM: 250100<li>P->S at 136: in MLD; late-infantile form, MIM: 250100<li>Missing  at 137: in MLD, MIM: 250100<li>R->G at 143: in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control, MIM: 250100<li>P->L at 148: in MLD; juvenile-onset, MIM: 250100<li>D->Y at 152: in MLD, MIM: 250100<li>Q->H at 153: in MLD; late-infantile form; no enzyme residual activity, MIM: 250100<li>G->D at 154: in MLD, MIM: 250100<li>P->L at 155: in MLD; juvenile-onset, MIM: 250100<li>P->R at 155: in MLD, MIM: 250100<li>C->R at 156: in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme, MIM: 250100<li>P->R at 167: in MLD, MIM: 250100<li>D->N at 169: in MLD, MIM: 250100<li>C->Y at 172: in MLD; juvenile-onset, MIM: 250100<li>I->S at 179: in MLD; mild, MIM: 250100<li>L->Q at 181: in MLD; infantile form, MIM: 250100<li>Q->H at 190: in MLD; no enzyme residual activity, MIM: 250100<li>P->T at 191: in MLD; juvenile-onset, MIM: 250100<li>W->C at 193: in dbSNP:rs6151415, MIM: 250100<li>Y->C at 201: in MLD; juvenile-onset; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment, MIM: 250100<li>A->P at 212: in MLD; enzyme activity reduced to 2.6% of wild-type enzyme, MIM: 250100<li>A->V at 212: in MLD, MIM: 250100<li>R->H at 217: in MLD; enzyme activity reduced to 15.6% of wild-type enzyme, MIM: 250100<li>F->V at 219: in MLD; enzyme activity reduced to less than 1% of normal activity, MIM: 250100<li>A->V at 224: in MLD, MIM: 250100<li>H->Y at 227: in MLD; late-infantile form, MIM: 250100<li>P->T at 231: in MLD, MIM: 250100<li>R->C at 244: in MLD; juvenile-onset, MIM: 250100<li>R->H at 244: in MLD; infantile-onset, MIM: 250100<li>G->R at 245: in MLD; severe; represents 20% of all alleles among Australians and about 85% of all Australians Lebanese alleles, MIM: 250100<li>F->S at 247: in MLD, MIM: 250100<li>S->Y at 250: in MLD; infantile-onset, MIM: 250100<li>E->K at 253: in MLD; late-infantile, MIM: 250100<li>D->H at 255: in MLD; late-infantile form; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment, MIM: 250100<li>T->M at 274: in MLD; severe; 35% of normal activity, MIM: 250100<li>D->Y at 281: in MLD, MIM: 250100<li>N->S at 282: in MLD; enzyme activity reduced to 0.6% of wild-type enzyme, MIM: 250100<li>T->P at 286: in MLD; adult type: in dbSNP rsrs28940894, MIM: 250100<li>R->C at 288: in MLD, MIM: 250100<li>R->H at 288: in MLD; adult form, MIM: 250100<li>G->D at 293: in MLD; late-onset, MIM: 250100<li>G->S at 293: in MLD; adult type; causes a severe reduction of enzyme activity, MIM: 250100<li>C->Y at 294: in MLD; juvenile-onset; causes a severe reduction of enzyme activity, MIM: 250100<li>S->Y at 295: in MLD; severe, MIM: 250100<li>L->S at 298: in MLD; late-infantile form; complete loss of enzyme activity, MIM: 250100<li>C->F at 300: in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin does not increase the amount of the enzyme activity; strongly interferes with the octamerization process of the enzyme at low pH, MIM: 250100<li>K->N at 302: in MLD; enzyme activity reduced to 2.8% of wild-type enzyme, MIM: 250100<li>Y->H at 306: in MLD; juvenile-onset, MIM: 250100<li>G->D at 308: in MLD; late-infantile form, MIM: 250100<li>G->V at 308: in MLD; late-infantile form; no enzyme residual activity, MIM: 250100<li>G->S at 309: in MLD; severe; 13% of normal activity, MIM: 250100<li>R->Q at 311: in MLD; juvenile-onset, MIM: 250100<li>E->D at 312: in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme, MIM: 250100<li>A->T at 314: in MLD; infantile-onset, MIM: 250100<li>G->S at 325: in MLD; juvenile-onset, MIM: 250100<li>T->I at 327: in MLD; late-infantile form, MIM: 250100<li>D->V at 335: in MLD; late-infantile-onset; loss of enzymatic activity, MIM: 250100<li>N->S at 350: associated with arylsulfatase A pseudodeficiency; appeares to be responsible for the small size of the enzyme produced by pseudodeficiency fibroblasts because it leads to loss of an N-glycosylation site; dbSNP:rs2071421, MIM: 250100<li>F->V at 356: in dbSNP:rs6151422, MIM: 250100<li>K->N at 367: in MLD, MIM: 250100<li>R->Q at 370: in MLD; mild, MIM: 250100<li>R->W at 370: in MLD; severe; no enzyme residual activity, MIM: 250100<li>Y->N at 376: in MLD; enzyme activity reduced to 4.7% of wild-type enzyme, MIM: 250100<li>P->L at 377: in MLD; severe; high frequency among Habbanite Jews, MIM: 250100<li>D->E at 381: in MLD; early-infantile form, MIM: 250100<li>E->K at 382: in MLD; intermediate, MIM: 250100<li>R->C at 384: in MLD, MIM: 250100<li>R->Q at 390: in MLD; juvenile-onset, MIM: 250100<li>R->W at 390: in MLD; late-infantile and juvenile-onset, MIM: 250100<li>T->S at 391: in dbSNP:rs743616, MIM: 250100<li>H->Y at 397: in MLD; adult-onset, MIM: 250100<li>Missing  at 398: in MLD, MIM: 250100<li>Missing  at 406-408: in MLD; late-infantile-onset, MIM: 250100<li>T->I at 408: in MLD; adult type: in dbSNP rsrs28940895, MIM: 250100<li>T->I at 409: in MLD; mild, MIM: 250100<li>P->T at 425: in MLD; juvenile-onset; retains about 12% of specific enzyme activity; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin increases the amount of the enzyme activity; displays a modest reduction in the octamerization process of the enzyme at low pH, MIM: 250100<li>P->L at 426: in MLD; juvenile/adult-onset; mild; common mutation: in dbSNP rsrs28940893, MIM: 250100<li>L->P at 428: in MLD; late-infantile form, MIM: 250100<li>Y->S at 429: in MLD; adult-onset, MIM: 250100<li>N->S at 440: in dbSNP:rs6151427, MIM: 250100<li>A->V at 464, MIM: 250100<li>A->G at 469: in MLD; early-infantile form, MIM: 250100<li>C->G at 489: in MLD; late-onset, MIM: 250100<li>R->H at 496: in dbSNP:rs6151428, MIM: 250100</ul>					lysosomes	GO:0005764	<li>P51691</li><li>P26228</li><li>P82968</li>	Metachromatic leukodystrophy (MLD) [MIM:250100]	<li>rs2071421</li><li>rs743616</li><li>rs6151422</li><li>rs28940893</li><li>rs28940894</li><li>rs28940895</li><li>rs6151411</li><li>rs6151427</li><li>rs6151428</li><li>rs6151415</li>	2
P15291	2683	<ul><li>R->W at 21: in dbSNP:rs1065764<li>H->R at 257: in dbSNP:rs9169</ul>									<li>rs9169</li><li>rs1065764</li>	2
P15309	55	<ul><li>S->N at 15: in dbSNP:rs17850347<li>F->V at 124: in dbSNP:rs17856254<li>W->R at 226: in dbSNP:rs17856253<li>Y->H at 330: in dbSNP:rs17851392<li>V->A at 360: in dbSNP:rs17850198</ul>									<li>rs17851392</li><li>rs17856254</li><li>rs17856253</li><li>rs17850198</li><li>rs17850347</li>	2
P15311	7430	<ul><li>R->C at 180: in dbSNP:rs3103004<li>A->P at 494: in dbSNP:rs2230143<li>L->V at 532</ul>									<li>rs3103004</li><li>rs2230143</li>	2
P15313	525	<ul><li>T->I at 30: in dbSNP:rs17720303<li>L->P at 81: in dRTA, MIM: 267300<li>G->V at 123: in dRTA, MIM: 267300<li>R->W at 124: in dRTA, MIM: 267300<li>R->C at 157: in dRTA, MIM: 267300<li>E->K at 161, MIM: 267300<li>M->R at 174: in dRTA, MIM: 267300<li>T->P at 275: in dRTA, MIM: 267300<li>G->E at 316: in dRTA, MIM: 267300<li>P->R at 346: in dRTA, MIM: 267300<li>G->S at 364: in dRTA, MIM: 267300<li>R->H at 465: in dRTA, MIM: 267300</ul>								Distal renal tubular acidosis with deafness (dRTA) [MIM:267300]	rs17720303	2
P15328	2348	<ul><li>W->C at 160: in dbSNP:rs1801932</ul>									rs1801932	2
P15336	1386	<ul><li>D->H at 352: in a breast cancer sample; somatic mutation</ul>										2
P15382	3753	<ul><li>T->I at 7: in JLNS2; dbSNP:rs28933384, MIM: 612347<li>R->H at 32: in LQT5; could be a polymorphism; dbSNP:rs17857111, MIM: 176261<li>S->G at 38: in dbSNP:rs17846179 and dbSNP:rs1805127, MIM: 176261<li>V->F at 47: in JLNS2, MIM: 612347<li>L->H at 51: in JLNS2, MIM: 612347<li>G->A at 52: in dbSNP:rs17173509, MIM: 612347<li>TL->PP at 58-59: in JLNS2, MIM: 612347<li>S->L at 74: in LQT5, MIM: 176261<li>D->N at 76: in LQT5 and JLNS2; suppresses KCNQ1 currents markedly, MIM: 176261<li>D->N at 85: predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential between the mutant and the wildt-ype channels; dbSNP:rs1805128, MIM: 176261<li>W->R at 87: in LQT5, MIM: 176261<li>R->W at 98: in LQT5, MIM: 176261<li>V->I at 109: in LQT5; mild phenotype; significantly reduced the wild-type I, MIM: 176261<li>P->T at 127: in LQT5, MIM: 176261</ul>							<li>Q9MYS6</li><li>P51787</li><li>O97531</li><li>O73925</li><li>O70344</li><li>Q9TTJ7</li>	<li>Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]</li><li>Long QT syndrome type 5 (LQT5) [MIM:176261]</li>	<li>rs17846179 and dbSNP:rs1805127</li><li>rs17857111</li><li>rs17173509</li><li>rs28933384</li><li>rs1805128</li>	2
P15391	930	<ul><li>L->V at 174: in dbSNP:rs2904880<li>R->H at 514: in dbSNP:rs34763945</ul>									<li>rs34763945</li><li>rs2904880</li>	2
P15421	2996	<ul><li>R->P at 78: in dbSNP:rs17018900</ul>									rs17018900	2
P15428	3248	<ul><li>A->P at 140: in COA; inactive, MIM: 259100<li>Y->C at 217, MIM: 259100</ul>								Cranioosteoarthropathy (COA) [MIM:259100]		2
P15498	7409	<ul><li>T->M at 739: in dbSNP:rs36097961</ul>									rs36097961	2
P15502	2006	<ul><li>S->G at 422: in dbSNP:rs2071307</ul>									rs2071307	2
P15514	374	<ul><li>D->V at 80<li>Y->C at 81</ul>										2
P15516	3347	<ul><li>R->Q at 41: in histatin-3-2; loss of the proteolytic cleavage site; dbSNP:rs1136511<li>Missing  at 47-51: in histatin-3-2; dbSNP:rs17147990</ul>							P15516		rs1136511	2
P15529	4179	<ul><li>S->F at 13<li>R->Q at 59<li>P->S at 165: in HUS; reduced cell surface expression, MIM: 235400<li>C->Y at 228: in a colorectal cancer sample; somatic mutation, MIM: 235400<li>S->P at 240: in HUS; no change in cell surface expression but reduced activity, MIM: 235400<li>D->N at 266: in dbSNP:rs17006830, MIM: 235400<li>Missing  at 271-272: in HUS; no cell surface expression, MIM: 235400<li>P->L at 324: in dbSNP rsrs41317833, MIM: 235400<li>A->V at 353: in dbSNP rsrs35366573, MIM: 235400<li>V->G at 355, MIM: 235400</ul>					cell surface	GO:0009928,GO:0009986		Atypical hemolytic-uremic syndrome (HUS) [MIM:235400]	<li>rs41317833</li><li>rs17006830</li><li>rs35366573</li>	2
P15531	4830	<ul><li>S->G at 120: in neuroblastoma; increased motility of carcinoma cells</ul>										2
P15538	1584	<ul><li>C->Y at 10: in dbSNP:rs6405<li>P->S at 42: in AH4; non-classic, MIM: 202010<li>R->Q at 43: in dbSNP:rs4534, MIM: 202010<li>D->H at 63: in dbSNP:rs5282, MIM: 202010<li>N->H at 133: in AH4; non-classic, MIM: 202010<li>M->I at 160: in dbSNP:rs5287, MIM: 202010<li>K->R at 173: in dbSNP:rs4539, MIM: 202010<li>T->I at 248: in dbSNP:rs34620645, MIM: 202010<li>F->L at 257: in dbSNP:rs5288, MIM: 202010<li>S->N at 281: in dbSNP:rs5291, MIM: 202010<li>L->V at 293: in dbSNP:rs5292, MIM: 202010<li>T->M at 318: in AH4, MIM: 202010<li>T->M at 319: in AH4; non-classic, MIM: 202010<li>A->T at 348: in dbSNP:rs6407, MIM: 202010<li>R->Q at 374: in AH4, MIM: 202010<li>A->V at 386: in dbSNP:rs4541, MIM: 202010<li>R->H at 404: in dbSNP:rs4998896, MIM: 202010<li>Y->H at 439: in dbSNP:rs5294, MIM: 202010<li>R->H at 448: in AH4: in dbSNP rsrs28934586, MIM: 202010<li>F->C at 494, MIM: 202010</ul>								Adrenal hyperplasia type 4 (AH4) [MIM:202010]	<li>rs4539</li><li>rs4998896</li><li>rs4534</li><li>rs6405</li><li>rs5294</li><li>rs5282</li><li>rs34620645</li><li>rs6407</li><li>rs28934586</li><li>rs5288</li><li>rs4541</li><li>rs5287</li><li>rs5291</li><li>rs5292</li>	2
P15559	1728	<ul><li>R->W at 139: in dbSNP:rs1131341<li>P->S at 187: lack of activity; dbSNP:rs1800566<li>Q->H at 269: in dbSNP:rs34447156</ul>									<li>rs34447156</li><li>rs1131341</li><li>rs1800566</li>	2
P15621		<ul><li>G->A at 92: in dbSNP:rs11882046<li>T->A at 212: in dbSNP:rs11879168</ul>									<li>rs11882046</li><li>rs11879168</li>	2
P15735	5261	<ul><li>V->E at 106: in GSD9C, MIM: 172471<li>E->K at 157: in GSD9C, MIM: 172471<li>G->E at 189: in GSD9C, MIM: 172471<li>D->N at 215: in GSD9C, MIM: 172471<li>E->G at 247: in dbSNP:rs34006569, MIM: 172471<li>A->T at 317, MIM: 172471</ul>								Glycogen storage disease type 9C (GSD9C) [MIM:172471]	rs34006569	2
P15812		<ul><li>Q->R at 96<li>R->W at 154<li>L->P at 184</ul>										2
P15813	912	<ul><li>T->S at 64</ul>										2
P15814	3543	<ul><li>P->L at 120: in dbSNP:rs1064425<li>P->L at 142: in autosomal recessive non-Bruton type agammaglobulinemia; dbSNP:rs1064422, MIM: 601495</ul>								Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	<li>rs1064425</li><li>rs1064422</li>	2
P15848	411	<ul><li>S->F at 65: in MPS6; intermediate form, MIM: 253200<li>Missing  at 86: in MPS6; severe form; low protein levels and activity, MIM: 253200<li>T->M at 92: in MPS6; mild form, MIM: 253200<li>R->Q at 95: in MPS6; mild/severe form, MIM: 253200<li>P->H at 116: in MPS6; severe form, MIM: 253200<li>C->R at 117: in MPS6; severe form, MIM: 253200<li>G->V at 137: in MPS6; intermediate form, MIM: 253200<li>M->I at 142: in MPS6, MIM: 253200<li>G->R at 144: in MPS6; severe form; severe reduction of activity, MIM: 253200<li>W->L at 146: in MPS6, MIM: 253200<li>W->R at 146: in MPS6, MIM: 253200<li>W->S at 146: in MPS6, MIM: 253200<li>R->W at 152: in MPS6; intermediate form, MIM: 253200<li>R->Q at 160: in MPS6; intermediate form, MIM: 253200<li>C->R at 192: in MPS6; mild form; severe reduction of activity, MIM: 253200<li>Y->C at 210: in MPS6; mild/intermediate, MIM: 253200<li>L->P at 236: in MPS6; mild form, MIM: 253200<li>Q->R at 239: in MPS6, MIM: 253200<li>G->R at 302: in MPS6; severe form, MIM: 253200<li>W->C at 312: in MPS6; severe form; low protein levels and activity, MIM: 253200<li>R->Q at 315: in MPS6; intermediate form, MIM: 253200<li>L->P at 321: in MPS6; intermediate form; severe reduction of activity, MIM: 253200<li>V->M at 358: in dbSNP:rs1065757, MIM: 253200<li>V->M at 376: in dbSNP:rs17220759, MIM: 253200<li>S->N at 384: in MPS6; dbSNP:rs25414, MIM: 253200<li>H->P at 393: in MPS6; mild/severe form, MIM: 253200<li>F->L at 399: in MPS6, MIM: 253200<li>C->Y at 405: in MPS6; mild form, MIM: 253200<li>R->G at 484: in MPS6, MIM: 253200<li>L->P at 498: in MPS6; mild/severe form, MIM: 253200<li>C->Y at 521: in MPS6; severe form; severe reduction of activity, MIM: 253200<li>P->R at 531: in MPS6; mild form, MIM: 253200</ul>								Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	<li>rs25414</li><li>rs17220759</li><li>rs1065757</li>	2
P15863		<ul><li>Q->H at 45: in a patient with neural tube defects, but not clearly linked to the disease<li>T->R at 345: in dbSNP:rs17861058<li>P->L at 359: in dbSNP:rs17861059<li>P->L at 410: in dbSNP:rs17861061</ul>									<li>rs17861058</li><li>rs17861061</li><li>rs17861059</li>	2
P15882	1123	<ul><li>L->F at 20: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356<li>I->M at 126: in DURS2; behaves as a dominant gain-of -function allele that increases CHN1 activity in vitro, MIM: 604356<li>Y->H at 143: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356<li>A->V at 223: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356<li>G->S at 228: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro, MIM: 604356<li>P->Q at 252: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356<li>E->K at 313: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro, MIM: 604356</ul>					membrane	GO:0016020	<li>P15882</li><li>Q17QN0</li>	Duane retraction syndrome type 2 (DURS2) [MIM:604356]		2
P15884	6925	<ul><li>M->I at 450: in dbSNP:rs11660217<li>R->Q at 576: in PTHS, MIM: 610954<li>R->W at 576: in PTHS, MIM: 610954</ul>								Pitt-Hopkins syndrome (PTHS) [MIM:610954]	rs11660217	2
P15918	5896	<ul><li>A->V at 156: in dbSNP:rs1801203<li>S->L at 169: in dbSNP:rs4151027<li>R->G at 244<li>R->H at 247: in dbSNP:rs4151029<li>R->H at 249: in dbSNP:rs3740955<li>D->E at 302: in dbSNP:rs4151030<li>R->W at 314: in CHIDG; reduced recombination activity, MIM: 233650<li>C->Y at 328: in OS, MIM: 603554<li>R->C at 396: in OS, MIM: 603554<li>R->H at 396: in OS, MIM: 603554<li>R->L at 396: in OS, MIM: 603554<li>S->P at 401: in OS, MIM: 603554<li>R->Q at 410: in OS/T, MIM: 603554<li>D->G at 429: in OS, MIM: 603554<li>V->M at 433: in OS/T, MIM: 603554<li>M->V at 435: in OS, MIM: 603554<li>A->V at 444: in OS/T, MIM: 603554<li>R->K at 449: in dbSNP:rs4151031, MIM: 603554<li>R->H at 474: in OS/T, MIM: 603554<li>R->W at 507: in OS/T, MIM: 233650<li>W->C at 522: in OS/T, MIM: 233650<li>P->S at 525: in dbSNP:rs4151032, MIM: 233650<li>R->S at 559: in OS, MIM: 603554<li>R->C at 561: in OS, MIM: 603554<li>R->H at 561: in OS, MIM: 603554<li>R->C at 624: in OS, MIM: 603554<li>R->H at 624: in T, MIM: 601457<li>E->G at 669: in OS, MIM: 603554<li>E->K at 722: in T: in dbSNP rsrs28933392, MIM: 601457<li>R->H at 737: in OS and CHIDG; reduced recombination activity when associated with Trp-507, MIM: 603554<li>H->L at 753: in OS/T, MIM: 603554<li>R->Q at 778: in CHIDG; reduced recombination activity, MIM: 233650<li>K->R at 820: in dbSNP:rs2227973, MIM: 233650<li>R->W at 841: in alpha/beta T-cell lymphopenia; with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity, MIM: 233650<li>N->I at 855: in immunodeficiency; severe combined, MIM: 233650<li>E->K at 880: in dbSNP:rs4151033, MIM: 233650<li>L->R at 885: in OS, MIM: 603554<li>D->N at 887: in dbSNP:rs4151034, MIM: 603554<li>Y->C at 912: in OS, MIM: 603554<li>R->Q at 975: in OS, MIM: 603554<li>R->W at 975: in CHIDG; reduced recombination activity, MIM: 233650<li>Q->P at 981: in alpha/beta T-cell lymphopenia; with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity, MIM: 233650</ul>							<li>Q920J4</li><li>P19334</li><li>P07700</li><li>P55965</li>	<li>Severe combined immunodeficiency, B-cell-negative (T(-)B(-)NK(+)SCID) [MIM:601457]</li><li>Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]</li><li>Omenn syndrome (OS) [MIM:603554]</li>	<li>rs28933392</li><li>rs2227973</li><li>rs4151030</li><li>rs4151031</li><li>rs3740955</li><li>rs4151032</li><li>rs4151033</li><li>rs4151034</li><li>rs1801203</li><li>rs4151027</li><li>rs4151029</li>	2
P15923	6929	<ul><li>A->V at 8: in a colorectal cancer sample; somatic mutation<li>L->P at 120: in dbSNP:rs35354874<li>T->A at 198: in dbSNP:rs11879402<li>G->S at 431: in dbSNP:rs1052692</ul>									<li>rs11879402</li><li>rs35354874</li><li>rs1052692</li>	2
P15924	1832	<ul><li>N->K at 287: in SFWHS, MIM: 607655<li>S->R at 299: in ARVD8, MIM: 607450<li>I->F at 305: in dbSNP:rs17604693, MIM: 607450<li>R->K at 1255: in ARVD8, MIM: 607450<li>Y->C at 1512: in dbSNP:rs2076299, MIM: 607450<li>R->Q at 1738: in dbSNP:rs6929069, MIM: 607450<li>R->I at 1775: in ARVD8: in dbSNP rsrs34738426, MIM: 607450<li>R->C at 2366: in SFWHS; dbSNP:rs28931610, MIM: 607655<li>G->R at 2375: in a case of recessive arrhythmogenic right ventricular cardiomyopathy with skin abnormalities and woolly hair, MIM: 607655</ul>								<li>Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]</li><li>Familial arrhythmogenic right ventricular dysplasia 8 (ARVD8) [MIM:607450]</li>	<li>rs34738426</li><li>rs2076299</li><li>rs17604693</li><li>rs28931610</li><li>rs6929069</li>	2
P15927	6118	<ul><li>Y->S at 14: in dbSNP:rs28988896<li>G->R at 15: in dbSNP:rs28988897<li>N->S at 203: in dbSNP:rs28904899</ul>									<li>rs28904899</li><li>rs28988897</li><li>rs28988896</li>	2
P15941	4582	<ul><li>V->M at 1117<li>S->N at 1142</ul>										2
P15976	2623	<ul><li>V->M at 205: in XDAT; severe impairment of ZFPM1 binding and erythroid differentiation in vitro, MIM: 300367<li>G->S at 208: in XDAT; partially disrupts the interaction with ZFPM1, MIM: 300367<li>R->Q at 216: in XLTT; does not affect ZFPM1 binding; reduced affinity to palindromic GATA sites; supports erythroid maturation less efficiently than wild-type GATA1, MIM: 314050<li>D->G at 218: in XDAT; partially disrupts the interaction with ZFPM1, MIM: 300367<li>D->Y at 218: in XDAT; stronger loss of affinity than of G-218-GATA1 for ZFPM1 and disturbed GATA1 self-association, MIM: 300367</ul>			binding	GO:0005488			<li>P49604</li><li>Q8LAU9</li><li>P17678</li><li>P15976</li><li>Q8IX07</li>	<li>X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]</li><li>X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]</li>		2
P16050	246	<ul><li>D->H at 90: in dbSNP:rs11568142<li>G->V at 102: in dbSNP:rs41439950<li>N->K at 103: in dbSNP:rs11568099<li>R->Q at 205: in dbSNP:rs11568101<li>V->M at 239: in dbSNP:rs3892408<li>A->P at 461: in dbSNP:rs17852628<li>T->M at 560: in dbSNP:rs34210653</ul>									<li>rs34210653</li><li>rs11568142</li><li>rs11568101</li><li>rs17852628</li><li>rs3892408</li><li>rs11568099</li><li>rs41439950</li>	2
P16066	4881	<ul><li>A->V at 182: in dbSNP rsrs56019647<li>F->C at 270: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>V->M at 755: in dbSNP rsrs55837780<li>R->Q at 939: in dbSNP:rs35240348<li>E->K at 967: in dbSNP:rs35479618</ul>									<li>rs35479618</li><li>rs55837780</li><li>rs35240348</li><li>rs56019647</li>	2
P16070	960	<ul><li>R->P at 46: in In<li>T->M at 393: in dbSNP:rs11607491<li>R->K at 417: in dbSNP:rs9666607<li>T->I at 479: in dbSNP:rs1467558<li>D->H at 494: in dbSNP:rs12273397</ul>									<li>rs1467558</li><li>rs12273397</li><li>rs11607491</li><li>rs9666607</li>	2
P16083	4835	<ul><li>K->R at 16: in dbSNP:rs28383623<li>E->G at 29: in dbSNP:rs17136117<li>F->L at 47: in dbSNP:rs1143684<li>G->D at 58: in dbSNP:rs17300141<li>V->A at 184: in dbSNP:rs28383651</ul>									<li>rs17136117</li><li>rs17300141</li><li>rs1143684</li><li>rs28383623</li><li>rs28383651</li>	2
P16109		<ul><li>G->R at 179: in dbSNP:rs3917718<li>V->M at 209: in dbSNP:rs6125<li>C->F at 230: in dbSNP:rs3917869<li>T->I at 274: in dbSNP:rs3917724<li>P->L at 301: in dbSNP:rs6124<li>S->N at 331: in dbSNP:rs6131<li>M->V at 365: in dbSNP:rs6134<li>S->L at 385: in dbSNP:rs3917742<li>S->F at 500: in dbSNP:rs6130<li>E->K at 542: in dbSNP:rs3917769<li>D->N at 603: in dbSNP:rs6127<li>S->A at 619: in dbSNP:rs2228672<li>G->V at 631: in dbSNP:rs3917812<li>L->V at 640: associated with susceptibility to ischemic stroke; dbSNP:rs6133<li>T->N at 661: in dbSNP:rs3917814<li>N->S at 673: in dbSNP:rs3917815<li>T->P at 756: reduced frequency in patients with myocardial infarction; dbSNP:rs6136</ul>									<li>rs3917718</li><li>rs3917769</li><li>rs3917742</li><li>rs6131</li><li>rs6130</li><li>rs3917815</li><li>rs6124</li><li>rs3917814</li><li>rs6125</li><li>rs6134</li><li>rs3917812</li><li>rs6127</li><li>rs3917869</li><li>rs3917724</li><li>rs2228672</li>	2
P16144	3691	<ul><li>C->R at 38: in EB-PA; mild form, MIM: 226730<li>C->Y at 61: in EB-PA; lethal form, MIM: 226730<li>R->H at 98, MIM: 226730<li>D->Y at 131: in EB-PA; lethal form, MIM: 226730<li>L->P at 156: in EB-PA; mild form, MIM: 226730<li>C->G at 245: in EB-PA; lethal form, MIM: 226730<li>R->C at 252: in EB-PA; mild form, MIM: 226730<li>G->D at 273: in EB-PA; lethal form, MIM: 226730<li>R->C at 283: in EB-PA, MIM: 226730<li>V->D at 325: in EB-PA, MIM: 226730<li>L->P at 336: in EB-PA; mild form, MIM: 226730<li>Q->H at 478: in dbSNP:rs8079267, MIM: 226730<li>C->R at 562: in EB-PA; mild form, MIM: 226730<li>R->L at 844, MIM: 226730<li>G->D at 931: in GABEB, MIM: 226650<li>H->Q at 1216, MIM: 226650<li>R->H at 1225: in EB-PA; mild form, MIM: 226730<li>R->W at 1281: in EB-PA; mild form, MIM: 226730<li>P->L at 1779: in dbSNP:rs871443, MIM: 226730</ul>								<li>Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]</li><li>Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]</li>	<li>rs8079267</li><li>rs871443</li>	2
P16150	6693	<ul><li>T->I at 22: in dbSNP:rs2229653<li>T->A at 93: in dbSNP:rs2229654</ul>									<li>rs2229654</li><li>rs2229653</li>	2
P16152	873	<ul><li>P->S at 131: in dbSNP rsrs41557318</ul>									rs41557318	2
P16157	286	<ul><li>R->T at 21<li>L->R at 276: in SPH1<li>D->H at 332: in a breast cancer sample; somatic mutation<li>V->I at 463: in SPH1, MIM: 182900<li>R->H at 619: in Brueggen; dbSNP:rs2304877, MIM: 182900<li>L->I at 733: in dbSNP:rs11778936, MIM: 182900<li>V->A at 750, MIM: 182900<li>D->E at 845, MIM: 182900<li>V->L at 991, MIM: 182900<li>I->T at 1054: in SPH1, MIM: 182900<li>T->I at 1075: in dbSNP:rs35213384, MIM: 182900<li>A->P at 1126: in dbSNP:rs504465, MIM: 182900<li>T->P at 1192: in dbSNP:rs486770, MIM: 182900<li>E->D at 1286, MIM: 182900<li>M->V at 1325: in dbSNP:rs10093583, MIM: 182900<li>S->T at 1392, MIM: 182900<li>V->I at 1546: in dbSNP:rs1060130, MIM: 182900<li>D->N at 1592: in Duesseldorf, MIM: 182900</ul>							Q06160	Hereditary spherocytosis (HS) [MIM:182900]	<li>rs1060130</li><li>rs504465</li><li>rs2304877</li><li>rs10093583</li><li>rs35213384</li><li>rs11778936</li><li>rs486770</li>	2
P16188		<ul><li>H->Q at 21: in allele A*3002, allele A*3004 and allele A*3008<li>S->Y at 33: in allele A*3008<li>T->A at 55: in allele A*3006<li>R->G at 80: in allele A*3003<li>Q->E at 86: in allele A*3007<li>RN->GK at 89-90: in allele A*3007<li>Q->H at 94: in allele A*3002, allele A*3003, allele A*3004, allele A*3006 and allele A*3007<li>VD->EN at 100-101: in allele A*3002, allele A*3003, allele A*3004, allele A*3006 and allele A*3007<li>RW->HV at 175-176: in allele A*3004 and allele A*3006<li>W->R at 176: in allele A*3002, allele A*3003 and allele A*3007<li>L->W at 180: in allele A*3004 and allele A*3006</ul>										2
P16189		<ul><li>N->K at 90: in allele A*3102<li>A->D at 114: in allele A*3103<li>M->I at 121: in allele A*3103 and allele A*3104<li>Q->R at 138: in allele A*3103, allele A*3104 and allele A*3106<li>EW->DG at 190-191: in allele A*3105</ul>										2
P16190		<ul><li>R->S at 41: in allele A*3302<li>H->Y at 195: in allele A*3302 and allele A*3303<li>AV->PI at 217-218: in allele A*3302<li>M->V at 358: in allele A*3302</ul>										2
P16219	35	<ul><li>R->W at 46: in SCAD deficiency, MIM: 201470<li>G->S at 90: in SCAD deficiency; no detectable activity, MIM: 201470<li>G->C at 92: in SCAD deficiency, MIM: 201470<li>Missing  at 104: in SCAD deficiency; no detectable activity, MIM: 201470<li>R->C at 107: in SCAD deficiency, MIM: 201470<li>R->W at 171: 69% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1800556, MIM: 201470<li>W->R at 177: in SCAD deficiency: in dbSNP rsrs57443665, MIM: 201470<li>A->V at 192: in SCAD deficiency; no detectable activity: in dbSNP rsrs28940874, MIM: 201470<li>G->S at 209: 86% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1799958, MIM: 201470<li>R->W at 325: in SCAD deficiency; no detectable activity, MIM: 201470<li>S->L at 353: in SCAD deficiency; no detectable activity: in dbSNP rsrs28941773, MIM: 201470<li>R->W at 380: in SCAD deficiency; no detectable activity: in dbSNP rsrs28940875, MIM: 201470<li>R->C at 383: in SCAD deficiency: in dbSNP rsrs28940872, MIM: 201470<li>R->H at 383: in dbSNP:rs35233375, MIM: 201470</ul>							<li>Q06319</li><li>P16219</li><li>P52042</li><li>P15651</li><li>P79273</li><li>Q07417</li>	Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]	<li>rs28940872</li><li>rs1799958</li><li>rs57443665</li><li>rs28940874</li><li>rs35233375</li><li>rs1800556</li><li>rs28940875</li><li>rs28941773</li>	2
P16234	5156	<ul><li>G->D at 79: in dbSNP:rs36035373<li>G->D at 426: in dbSNP rsrs55865821<li>S->P at 478: in dbSNP:rs35597368<li>R->C at 764: in dbSNP rsrs34392012<li>G->R at 829: in a glioblastoma multiforme sample; somatic mutation<li>E->K at 996: in a metastatic melanoma sample; somatic mutation<li>D->N at 1071: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>									<li>rs55865821</li><li>rs34392012</li><li>rs36035373</li><li>rs35597368</li>	2
P16278	2720	<ul><li>P->L at 10: in dbSNP:rs7637099<li>R->C at 49: in GM1G1, MIM: 230500<li>I->T at 51: in GM1G3, MIM: 230650<li>R->C at 59: in GM1G1; protein enzymatically inactive; severe mutation, MIM: 230500<li>R->H at 59: in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation, MIM: 230500<li>R->W at 68: in GM1G2; no enzyme activity, MIM: 230600<li>T->M at 82: in GM1G3; mild phenotype, MIM: 230650<li>Y->H at 83: in MPS4B; 2-5% of activity, MIM: 253010<li>R->W at 109: in dbSNP:rs35289681, MIM: 253010<li>R->S at 121: in GM1G1, MIM: 230500<li>G->R at 123: in GM1G1: in dbSNP rsrs28934274, MIM: 230500<li>G->V at 134: in GM1G1, MIM: 230500<li>Missing  at 147: in GM1G1, MIM: 230500<li>R->S at 148: in GM1G1, MIM: 230500<li>D->Y at 151: in GM1G1; complete lack of protein; no enzymatic activity, MIM: 230500<li>L->R at 155: in GM1G3, MIM: 230650<li>L->S at 162: in GM1G1, MIM: 230500<li>R->C at 201: in GM1G2; residual enzyme activity; activity severely reduced in transfection with the F-436 polymorphism, MIM: 230600<li>R->H at 201: in GM1G2; also in GM1G1 and a patient with a slowly progressive GM1-gangliosidosis form, MIM: 230600<li>R->C at 208: in GM1G1, MIM: 230500<li>D->Y at 214: in GM1G3, MIM: 230650<li>V->A at 216: in GM1G1, MIM: 230500<li>T->M at 239: in GM1G1; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor, MIM: 230500<li>V->M at 240: in GM1G1, MIM: 230500<li>P->S at 263: in GM1G3, MIM: 230650<li>N->S at 266: in GM1G3, MIM: 230650<li>Y->D at 270: in GM1G3; originally classified as Morquio syndrome, MIM: 230650<li>G->D at 272: in GM1G1, MIM: 230500<li>W->L at 273: in MPS4B; 8% of activity, MIM: 253010<li>H->Y at 281: in GM1G1 and GM1G3, MIM: 230650<li>Y->C at 316: in GM1G1, MIM: 230500<li>D->N at 332: in GM1G1, MIM: 230500<li>Missing  at 377-381: in GM1G1, MIM: 230500<li>Q->P at 408: in MPS4B, MIM: 253010<li>S->L at 434: in GM1-gangliosidosis; unclassified clinical type, MIM: 253010<li>L->F at 436: seems to have a modulating action in the expression of the severity of other mutations: in dbSNP rsrs34421970, MIM: 253010<li>G->E at 438: in MPS4B; mild form; 5.7% of activity, MIM: 253010<li>R->Q at 457: in GM1G3: in dbSNP rsrs28934886, MIM: 230650<li>R->C at 482: in MPS4B; loss of activity, MIM: 253010<li>R->H at 482: in MPS4B and GM1G1; loss of activity, MIM: 253010<li>N->K at 484: in MPS4B; mild form; 1.9% of activity, MIM: 253010<li>D->N at 491: in GM1G1, MIM: 230500<li>D->Y at 491: in GM1G1, MIM: 230500<li>G->C at 494: in GM1G1, MIM: 230500<li>T->A at 500: in MPS4B; mild form; 2.1% of activity, MIM: 253010<li>W->C at 509: in MPS4B; also in a patient with a slowly progressive form of GM1-gangisidosis; loss of activity, MIM: 253010<li>R->C at 521: in a GM1-gangliosidosis patient; mild phenotype; reduction of activity; could be a polymorphism; dbSNP:rs4302331, MIM: 253010<li>S->G at 532, MIM: 253010<li>P->L at 549: in GM1G1, MIM: 230500<li>G->E at 554: in GM1-gangliosidosis; unclassified clinical type, MIM: 230500<li>K->R at 578: in GM1G1, MIM: 230500<li>G->D at 579: in GM1G1 and GM1G2; protein enzymatically inactive; severe mutation, MIM: 230600<li>R->C at 590: in GM1G1, MIM: 230500<li>R->H at 590: in GM1G2, MIM: 230600<li>Y->C at 591: in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor, MIM: 230500<li>Y->N at 591: in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor, MIM: 230500<li>R->W at 595: reduction of activity, MIM: 230500<li>E->G at 632: in GM1G2, MIM: 230600</ul>							P48648	<li>GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]</li><li>GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]</li><li>Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]</li><li>GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]</li>	<li>rs28934886</li><li>rs4302331</li><li>rs28934274</li><li>rs35289681</li><li>rs7637099</li><li>rs34421970</li>	2
P16284	5175	<ul><li>L->V at 125: in dbSNP:rs668</ul>									rs668	2
P16333	4690	<ul><li>A->V at 180: in dbSNP:rs13320485</ul>									rs13320485	2
P16383	6936	<ul><li>P->A at 32: in dbSNP:rs7559767<li>N->S at 249: in dbSNP:rs7560262<li>Q->E at 316: in dbSNP:rs6742946<li>T->A at 594: in dbSNP:rs6722682<li>E->D at 724: in dbSNP:rs17690300</ul>									<li>rs6722682</li><li>rs6742946</li><li>rs17690300</li><li>rs7560262</li><li>rs7559767</li>	2
P16401	3009	<ul><li>G->D at 86: in a colorectal cancer sample; somatic mutation<li>K->R at 144: in dbSNP:rs11970638<li>A->T at 211: in dbSNP:rs34144478</ul>									<li>rs34144478</li><li>rs11970638</li>	2
P16402	3007	<ul><li>E->K at 75: in dbSNP:rs2050949</ul>									rs2050949	2
P16403	3006	<ul><li>A->V at 18: in dbSNP:rs2230653<li>S->A at 113: in dbSNP:rs34810376<li>G->A at 124: in dbSNP:rs12111009</ul>									<li>rs12111009</li><li>rs2230653</li><li>rs34810376</li>	2
P16410	1493	<ul><li>T->A at 17: increased risk for Graves disease, insulin-dependent diabetes mellitus, thyroid-associated orbitopathy, systemic lupus erythematosus and susceptibility to HBV infection; dbSNP:rs231775</ul>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P29243</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		rs231775	2
P16415	55552	<ul><li>R->H at 566: in dbSNP:rs3745663</ul>									rs3745663	2
P16422	4072	<ul><li>M->T at 115: in dbSNP:rs1126497</ul>									rs1126497	2
P16435	5447	<ul><li>Y->D at 178: in AHV; complete loss of activity, MIM: 201750<li>P->L at 225, MIM: 201750<li>D->N at 252, MIM: 201750<li>A->P at 284: in AHV; significant reduction of activity, MIM: 201750<li>R->H at 454: in AHV; significant reduction of activity, MIM: 201750<li>V->E at 489: in AHV; significant reduction of activity, MIM: 201750<li>A->V at 500: in dbSNP:rs1057868, MIM: 201750<li>R->Q at 551, MIM: 201750<li>C->Y at 566: in IDS and AHV; significant reduction of activity, MIM: 201750<li>Y->C at 575: in AHV; with abnormal genitalia, MIM: 201750<li>V->F at 605: in IDS; significant reduction of activity, MIM: 201750<li>LKQDREHLW->R at 609-617: in AHV, MIM: 201750</ul>							P22304	<li>Isolated disordered steroidogenesis (IDS) [MIM:201750]</li><li>Adrenal hyperplasia variant type (AHV) [MIM:201750]</li>	rs1057868	2
P16442	28	<ul><li>G->R at 35: in dbSNP:rs8176696<li>V->F at 36: in dbSNP:rs688976<li>R->H at 63: in dbSNP:rs549446<li>P->S at 74: in dbSNP:rs512770<li>CR->W at 80-81<li>P->L at 156: in allele A2; dbSNP:rs1053878<li>R->H at 161: in dbSNP:rs8176738<li>T->M at 163: in allele Aw08<li>R->G at 176: in group B transferase; dbSNP:rs7853989<li>R->W at 198: in allele Aw07<li>R->C at 199: in dbSNP:rs8176739<li>M->R at 214: in allele Bel01; loss of manganese binding and reduced catalytic activity<li>F->I at 216: in dbSNP:rs8176740<li>E->D at 223: in allele B106<li>G->R at 230: in group B transferase; lower-level protein expression and intracellular cytoplasmic mislocation<li>G->S at 235: in group B transferase; dbSNP:rs8176743<li>P->L at 257: in dbSNP:rs8176745<li>L->M at 266: in group B transferase; important for the specificity; dbSNP:rs8176746<li>G->A at 268: in group B transferase; important for the specificity; dbSNP:rs8176747<li>G->R at 268: in dbSNP:rs8176747<li>V->M at 277: in dbSNP:rs8176748<li>M->R at 288<li>D->N at 291: in allele B104<li>K->M at 346: in allele Bw08<li>R->G at 352: in allele A107: in dbSNP rsrs56202119<li>R->W at 352: in allele A106 and allele B3</ul>			<li>manganese binding</li><li>catalytic activity</li>	<li>GO:0030145</li><li>GO:0003824</li>	intracellular	GO:0005622			<li>rs8176739</li><li>rs56202119</li><li>rs549446</li><li>rs8176738</li><li>rs8176696</li><li>rs8176747</li><li>rs8176748</li><li>rs8176745</li><li>rs8176740</li><li>rs688976</li><li>rs512770</li>	2
P16444	1800	<ul><li>R->H at 246: in a colorectal cancer sample; somatic mutation</ul>										2
P16452	2038	<ul><li>A->T at 112: in HS; Nippon/Fukuoka, MIM: 177070<li>R->Q at 280: in HS; Tozeur, MIM: 177070</ul>								Hereditary spherocytosis (HS) [MIM:177070]		2
P16455	4255	<ul><li>E->K at 30: in dbSNP:rs2020893<li>P->S at 58: in dbSNP:rs2308322<li>W->C at 65: in dbSNP:rs2282164<li>L->F at 84: in dbSNP:rs12917<li>I->V at 143: in dbSNP:rs2308321<li>G->R at 160: in dbSNP:rs2308318<li>E->D at 166: in dbSNP:rs2308320<li>K->R at 178: in dbSNP:rs2308327</ul>									<li>rs12917</li><li>rs2308320</li><li>rs2282164</li><li>rs2308318</li><li>rs2020893</li><li>rs2308327</li><li>rs2308322</li><li>rs2308321</li>	2
P16471	5618	<ul><li>I->V at 100: in dbSNP:rs2228482</ul>									rs2228482	2
P16473		<ul><li>D->H at 36: in a patient with Graves disease<li>C->S at 41: in CHNG1, MIM: 275200<li>P->T at 52: does not contribute to the genetic susceptibility to Graves disease; dbSNP:rs2234919, MIM: 275200<li>R->Q at 109: in CHNG1, MIM: 275200<li>P->A at 162: in CHNG1, MIM: 275200<li>I->N at 167: in CHNG1, MIM: 275200<li>K->R at 183: in FGH; enhances receptor response to chorionic gonadotropin, MIM: 603373<li>F->I at 197: in papillary cancer, MIM: 603373<li>D->E at 219: in papillary cancer, MIM: 603373<li>L->P at 252: in CHNG1; displays a low expression at the cell surface and a reduced response to bovine TSH in terms of cAMP production, MIM: 275200<li>S->I at 281: in hyperthyroidism; congenital; due to a toxic adenoma, MIM: 603372<li>S->N at 281: in non-autoimmune hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas and nonadenomatous nodules; gain of function, MIM: 609152<li>S->T at 281: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>R->C at 310: in CHNG1, MIM: 275200<li>C->W at 390: in CHNG1; persistent hypothyroidism and defective thyroid development; habolishes high affinity hormone binding, MIM: 275200<li>D->N at 410: in CHNG1; lack of adenylate cyclase activation, MIM: 275200<li>S->I at 425: in TTNs; 8 to 9 times higher levels of basal cAMP than wild-type TSHR and similar response to maximal TSH stimulation, MIM: 275200<li>G->S at 431: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function; constitutive activation of the G, MIM: 609152<li>R->H at 450: in CHNG1, MIM: 275200<li>M->T at 453: in non-autoimmune hyperthyroidism and TTNs; sporadic congenital; associated with hyperfunctioning thyroid adenomas, MIM: 609152<li>M->V at 463: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372<li>L->P at 467: in CHNG1, MIM: 275200<li>T->I at 477: in CHNG1; severe hypothyroidism, MIM: 275200<li>I->F at 486: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; also in hyperfunctioning follicular carcinoma, MIM: 603372<li>I->M at 486: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>G->S at 498: in CHNG1, MIM: 275200<li>S->N at 505: in hyperthyroidism and TTNs; sporadic congenital, MIM: 603372<li>S->R at 505: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372<li>V->A at 509: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function, MIM: 609152<li>L->Q at 512: in TTNs; 5 times higher levels of basal cAMP than wild-type TSHR and slightly less response to maximal TSH stimulation, MIM: 609152<li>L->R at 512: in hyperthyroidism and TTNs; associated with autonomously functioning thyroid nodules; 3.3-fold increase in basal cAMP level, MIM: 603372<li>F->L at 525: in CHNG1; impairs adenylate cyclase activation, MIM: 275200<li>R->H at 528, MIM: 275200<li>A->T at 553: in CHNG1; severe hypothyroidism, MIM: 275200<li>I->T at 568: in hyperthyroidism and TTNs; sporadic congenital; also in hyperfunctioning thyroid adenomas, MIM: 603372<li>A->N at 593: in toxic thyroid adenoma; requires 2 nucleotide substitutions; somatic mutation; N-593 and N-593/E-727 constitutively activate the cAMP cascade; double mutant's specific constitutive activity is 2.3-fold lower than the N-593 mutant, MIM: 603372<li>V->F at 597: in non-autoimmune hyperthyroidism; 11-fold increase in specific constitutive activity associated with reduction in receptor protein expression, MIM: 609152<li>V->L at 597: in hyperthyroidism; congenital with severe thyrotoxicosis, MIM: 603372<li>C->R at 600: in CHNG1, MIM: 275200<li>I->M at 606, MIM: 275200<li>D->G at 619: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>A->I at 623: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas; gain of function; requires 2 nucleotide substitutions, MIM: 603372<li>A->V at 623: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; gain of function, MIM: 603372<li>L->F at 629: in non-autoimmune hyperthyroidism; autosomal dominant; also in hyperfunctioning thyroid adenomas and nonadenomatous nodules, MIM: 609152<li>I->L at 630: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>F->C at 631: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>F->L at 631: in non-autoimmune hyperthyroidism and TTNs; congenital; also in hyperfunctioning thyroid adenomas; gain of function, MIM: 609152<li>T->A at 632: in hyperthyroidism and TTNs; associated with nonadenomatous hyperfunctioning nodules; gain of function, MIM: 603372<li>T->I at 632: in non-autoimmune hyperthyroidism and TTNs; autosomal dominant; also in a sporadic congenital case and in hyperfunctioning thyroid adenomas and nonadenomatous nodules; gain of function, MIM: 609152<li>D->A at 633: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>D->E at 633: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas and nonadenomatous nodules, MIM: 603372<li>D->H at 633: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; also in hyperfunctioning insular carcinoma; with severe thyrotoxicosis; gain of function, MIM: 603372<li>D->Y at 633: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>P->A at 639: in TTNs, MIM: 603372<li>P->S at 639: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function, MIM: 609152<li>A->V at 647: in hyperthyroidism; associated with nonadenomatous hyperfunctioning nodules, MIM: 603372<li>N->Y at 650: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372<li>V->F at 656: in TTNs, MIM: 603372<li>Missing  at 658-661: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372<li>N->S at 670: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372<li>C->Y at 672: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function, MIM: 609152<li>L->V at 677: in thyroid carcinoma; with thyrotoxicosis; gain of function, MIM: 609152<li>A->G at 703, MIM: 609152<li>N->D at 715: in papillary cancer, MIM: 609152<li>Q->E at 720, MIM: 609152<li>K->M at 723: in papillary cancer, MIM: 609152<li>D->E at 727: may be a predisposing factor in toxic multinodular goiter pathogenesis; activation of the cAMP cascade does not differ from the wild-type; dbSNP:rs1991517, MIM: 609152</ul>	<li>pathogenesis</li><li>development</li>	<li>GO:0009405</li><li>GO:0007275</li>	hormone binding	GO:0042562	cell surface	GO:0009928,GO:0009986	<li>P00936</li><li>P23466</li><li>P30528</li><li>P11030</li><li>P40363</li><li>Q59685</li><li>P56495</li><li>Q9WXC3</li><li>Q8WZ42</li><li>P0A1A7</li><li>Q05766</li><li>P0A1A8</li><li>P14763</li><li>Q8SPP9</li><li>P40134</li><li>Q9GJT2</li><li>P40135</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P10768</li><li>Q9R0P3</li><li>P43524</li><li>Q9BGN4</li><li>P08678</li><li>P27580</li><li>P40127</li><li>Q27987</li><li>Q8XAP1</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>P59739</li><li>P16473</li><li>P49606</li><li>Q01631</li>	<li>Hyperthyroidism [MIM:603372]</li><li>Familial gestational hyperthyroidism (FGH) [MIM:603373]</li><li>Non-autoimmune hyperthyroidism [MIM:609152]</li><li>Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]</li>		2
P16499	5145	<ul><li>R->H at 102: in ARRP, MIM: 268000<li>R->S at 102: in ARRP, MIM: 268000<li>A->T at 145: in dbSNP:rs35431421, MIM: 268000<li>N->S at 216: in dbSNP:rs10057110, MIM: 268000<li>V->A at 277, MIM: 268000<li>P->L at 293, MIM: 268000<li>S->R at 344: in ARRP, MIM: 268000<li>V->M at 391, MIM: 268000<li>Q->H at 492: in dbSNP:rs17711594, MIM: 268000<li>Q->K at 569: in ARRP, MIM: 268000<li>S->P at 573: in ARRP, MIM: 268000<li>K->Q at 827, MIM: 268000<li>G->V at 850, MIM: 268000</ul>								Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	<li>rs35431421</li><li>rs10057110</li><li>rs17711594</li>	2
P16519	5126	<ul><li>D->N at 424: in a colorectal cancer sample; somatic mutation</ul>										2
P16520	2784	<ul><li>V->M at 40: in dbSNP:rs45569331<li>D->N at 76: in dbSNP:rs2234756<li>V->M at 81: in dbSNP:rs45616032<li>G->S at 272: in dbSNP:rs5442<li>L->F at 280: in dbSNP:rs28395776<li>G->E at 324: in dbSNP:rs28395775<li>W->L at 339: in dbSNP:rs5444</ul>									<li>rs28395775</li><li>rs45569331</li><li>rs2234756</li><li>rs5444</li><li>rs28395776</li><li>rs5442</li><li>rs45616032</li>	2
P16562	7180	<ul><li>N->S at 131: in dbSNP:rs34457011</ul>									rs34457011	2
P16581	6401	<ul><li>A->S at 21: in dbSNP:rs3917407<li>M->I at 31: in dbSNP:rs3917408<li>C->W at 130: in dbSNP:rs5360<li>S->R at 149: polymorphism associated with coronary artery disease; dbSNP:rs5361<li>Q->P at 257: in dbSNP:rs3917422<li>E->K at 295: in dbSNP:rs5364<li>E->Q at 421: in dbSNP:rs5366<li>H->Y at 468: in dbSNP:rs5368<li>P->S at 550: in dbSNP:rs3917429<li>L->F at 575: in dbSNP:rs5355</ul>									<li>rs3917429</li><li>rs5355</li><li>rs5368</li><li>rs5364</li><li>rs3917422</li><li>rs5366</li><li>rs5360</li><li>rs3917407</li><li>rs3917408</li><li>rs5361</li>	2
P16591	2241	<ul><li>V->F at 128: in dbSNP:rs35150210<li>E->Q at 404: in an ovarian Endometrioid carcinoma sample; somatic mutation<li>M->V at 412: in dbSNP:rs33940843<li>L->V at 439: in dbSNP:rs34499946<li>A->P at 443: in dbSNP rsrs34259824<li>W->C at 460: in a lung small cell carcinoma sample; somatic mutation<li>I->T at 507: in dbSNP:rs34204308<li>E->Q at 813: in dbSNP rsrs56097357</ul>									<li>rs33940843</li><li>rs34259824</li><li>rs56097357</li><li>rs34499946</li><li>rs35150210</li><li>rs34204308</li>	2
P16615	488	<ul><li>G->E at 23: in DD: in dbSNP rsrs28929478, MIM: 124200<li>N->T at 39: in DD, MIM: 124200<li>K->KMFLTGK at 47: in DD, MIM: 124200<li>L->S at 65: in DD; severe form, MIM: 124200<li>R->Q at 131: in DD, MIM: 124200<li>P->L at 160: in DD, MIM: 124200<li>S->P at 186: in DD, MIM: 124200<li>G->D at 211: in DD; severe form, MIM: 124200<li>V->M at 223: in DD, MIM: 124200<li>C->F at 268: in DD; haemorrhagic lesions, MIM: 124200<li>G->V at 310: in DD, MIM: 124200<li>C->R at 318: in DD; severe form, MIM: 124200<li>I->T at 348: in DD, MIM: 124200<li>T->K at 357: in DD, MIM: 124200<li>E->G at 412: in DD, MIM: 124200<li>S->F at 495: in DD, MIM: 124200<li>C->R at 560: in DD; neuropsychiatric phenotype, MIM: 124200<li>P->L at 602: in AKV; loss of activity, MIM: 101900<li>F->S at 675: in DD; multiple neuropsychiatric features, MIM: 124200<li>K->E at 683: in DD; depression, MIM: 124200<li>D->N at 702: in DD; moderate form, MIM: 124200<li>A->D at 745: in DD; moderate form, MIM: 124200<li>G->R at 749: in DD, MIM: 124200<li>Missing  at 754: in DD, MIM: 124200<li>S->L at 765: in DD, MIM: 124200<li>N->S at 767: in DD; haemorrhagic lesions and neuropsychiatric phenotype, MIM: 124200<li>G->R at 769: in DD, MIM: 124200<li>A->T at 803: in DD; mild/moderate form, MIM: 124200<li>A->P at 838: in DD; severe form; petit mal epilepsy, MIM: 124200<li>V->F at 843: in DD; depression, MIM: 124200<li>C->G at 875: in DD; retinitis pigmentosa, MIM: 124200<li>S->Y at 920: in DD; mild/moderate/severe form; one patient with epilepsy, MIM: 124200<li>H->R at 943: in DD; learning difficulties, MIM: 124200<li>P->R at 975: in DD, MIM: 124200</ul>	learning	GO:0007612						<li>Darier disease (DD) [MIM:124200]</li><li>Acrokeratosis verruciformis (AKV) [MIM:101900]</li>	rs28929478	2
P16662	7364	<ul><li>H->Y at 268: in allele UGT2B7*2; dbSNP:rs7439366</ul>							P16662		rs7439366	2
P16671	948	<ul><li>P->S at 90: in platelet glycoprotein IV deficiency; type I; degradation in the cytoplasm due to defects in maturation; dbSNP:rs3765187, MIM: 608404<li>E->K at 123: in individuals from a malaria endemic area in West Africa, MIM: 608404<li>S->L at 127, MIM: 608404<li>V->F at 154: in dbSNP:rs5957, MIM: 608404<li>T->A at 174: in individuals from a malaria endemic area in West Africa, MIM: 608404<li>G->GN at 232: in individuals from a malaria endemic area in West Africa, MIM: 608404<li>F->L at 254: in platelet glycoprotein IV deficiency; type I, MIM: 608404<li>I->T at 271: in individuals from a malaria endemic area in West Africa, MIM: 608404<li>I->L at 413: in platelet glycoprotein IV deficiency; type I, MIM: 608404</ul>					cytoplasm	GO:0005737	<li>Q07969</li><li>P16671</li><li>P26201</li><li>Q08857</li><li>P70110</li>	Platelet glycoprotein IV deficiency [MIM:608404]	<li>rs3765187</li><li>rs5957</li>	2
P16860	4879	<ul><li>R->L at 25: in dbSNP:rs5227<li>R->H at 47: in dbSNP:rs5229<li>M->L at 93: in dbSNP:rs5230</ul>									<li>rs5227</li><li>rs5229</li><li>rs5230</li>	2
P16870	1363	<ul><li>W->R at 235: in dbSNP:rs34516004<li>R->Q at 297: in a colorectal cancer sample; somatic mutation</ul>									rs34516004	2
P16871	3575	<ul><li>T->I at 66: in T: in dbSNP rsrs1494558, MIM: 608971<li>E->D at 113: in dbSNP:rs11567735, MIM: 608971<li>P->S at 132: in T, MIM: 608971<li>I->V at 138: in T: in dbSNP rsrs1494555, MIM: 608971<li>T->I at 244: associated with MS; dbSNP:rs6897932, MIM: 608971<li>I->V at 356: in dbSNP:rs3194051, MIM: 608971<li>T->M at 414: in dbSNP:rs2229232, MIM: 608971</ul>								Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]	<li>rs11567735</li><li>rs6897932</li><li>rs1494558</li><li>rs3194051</li><li>rs1494555</li><li>rs2229232</li>	2
P16885	5336	<ul><li>H->R at 244: in dbSNP:rs11548656<li>R->W at 268: in dbSNP:rs17537869<li>T->A at 541: in dbSNP:rs11548657<li>D->Y at 883: in dbSNP:rs17856213</ul>									<li>rs17537869</li><li>rs11548657</li><li>rs17856213</li><li>rs11548656</li>	2
P16930	2184	<ul><li>N->I at 16: in TYRO1; loss of activity, MIM: 276700<li>F->C at 62: in TYRO1; loss of activity, MIM: 276700<li>Q->H at 64: in TYRO1; many patients of Pakistani origin, MIM: 276700<li>A->D at 134: in TYRO1; chronic; loss of activity, MIM: 276700<li>G->D at 158: in TYRO1, MIM: 276700<li>V->G at 166: in TYRO1, MIM: 276700<li>C->R at 193: in TYRO1; loss of activity, MIM: 276700<li>G->D at 207: in TYRO1, MIM: 276700<li>D->V at 233: in TYRO1; loss of activity; many patients of Turkish origin, MIM: 276700<li>W->G at 234: in TYRO1; loss of activity, MIM: 276700<li>P->T at 249: in TYRO1, MIM: 276700<li>P->L at 261: in TYRO1, MIM: 276700<li>T->P at 294: in TYRO1, MIM: 276700<li>G->S at 337: in TYRO1, MIM: 276700<li>R->W at 341: in TYRO1 and FAH pseudodeficiency; lower activity; dbSNP:rs11555096, MIM: 276700<li>P->L at 342: in TYRO1; chronic; loss of activity, MIM: 276700<li>Missing  at 366: in TYRO1, MIM: 276700<li>G->V at 369: in TYRO1, MIM: 276700<li>R->G at 381: in TYRO1; loss of activity, MIM: 276700<li>F->H at 405: in TYRO1; requires 2 nucleotide substitutions, MIM: 276700</ul>							P16930	Tyrosinemia type 1 (TYRO1) [MIM:276700]	rs11555096	2
P16989	8531	<ul><li>T->A at 75: in dbSNP:rs1126501</ul>									rs1126501	2
P17020	7564	<ul><li>E->K at 105: in dbSNP:rs3735784<li>R->H at 227: in dbSNP:rs3735786</ul>									<li>rs3735784</li><li>rs3735786</li>	2
P17022	7566	<ul><li>Q->R at 210: in dbSNP:rs17857095<li>M->I at 240: in dbSNP:rs17853545</ul>									<li>rs17853545</li><li>rs17857095</li>	2
P17026	7570	<ul><li>S->G at 65: in dbSNP:rs3740093<li>H->L at 129: in a breast cancer sample; somatic mutation</ul>									rs3740093	2
P17027	7571	<ul><li>S->G at 28: in dbSNP:rs2070832</ul>									rs2070832	2
P17028	7572	<ul><li>N->S at 220: in dbSNP:rs2032729<li>G->W at 331: in dbSNP:rs3568</ul>									<li>rs3568</li><li>rs2032729</li>	2
P17029	7586	<ul><li>V->A at 26: in dbSNP:rs17851996</ul>									rs17851996	2
P17030	219749	<ul><li>E->K at 21: in a breast cancer sample; somatic mutation<li>D->G at 81: in a breast cancer sample; somatic mutation<li>N->K at 453: in dbSNP:rs1208606</ul>									rs1208606	2
P17032	7587	<ul><li>D->N at 105: in dbSNP:rs2021319</ul>									rs2021319	2
P17035		<ul><li>R->G at 179: in dbSNP:rs13382164<li>K->Q at 465: in dbSNP:rs10417163<li>T->M at 524: in dbSNP:rs8107444</ul>									<li>rs13382164</li><li>rs10417163</li><li>rs8107444</li>	2
P17036	7551	<ul><li>I->T at 102: in dbSNP:rs11550034</ul>									rs11550034	2
P17038	7594	<ul><li>R->C at 244: in a colorectal cancer sample; somatic mutation<li>S->P at 718: in dbSNP:rs1063327</ul>									rs1063327	2
P17039		<ul><li>R->Q at 42: in dbSNP:rs1811<li>A->T at 109: in dbSNP:rs8100497<li>R->K at 298: in dbSNP:rs1345658<li>Y->C at 319: in dbSNP:rs765746</ul>									<li>rs1345658</li><li>rs1811</li><li>rs765746</li><li>rs8100497</li>	2
P17050	4668	<ul><li>S->C at 160: in Schindler disease; type III, MIM: 609241<li>E->K at 325: in Schindler disease; type I and type III, MIM: 609241<li>R->Q at 329: in Kanzaki disease, MIM: 609242<li>R->W at 329: in Kanzaki disease; loss of activity, MIM: 609242</ul>								<li>Kanzaki disease [MIM:609242]</li><li>Schindler disease [MIM:609241]</li>		2
P17066	3310	<ul><li>A->T at 150: in dbSNP:rs10919224<li>N->S at 153: in dbSNP:rs10919225<li>D->N at 154: in dbSNP:rs10919226<li>N->K at 170: in dbSNP:rs41297704<li>R->P at 173: in dbSNP:rs41297708<li>P->A at 178: in dbSNP:rs41297710<li>E->K at 194: in dbSNP:rs41297714<li>L->F at 198: in dbSNP:rs1079109<li>R->H at 260: in dbSNP:rs41299256<li>S->I at 464: in dbSNP:rs388218<li>R->H at 471: in dbSNP:rs41299256<li>K->E at 528: in dbSNP:rs570189<li>D->E at 562: in dbSNP:rs753856<li>M->V at 572: in dbSNP:rs452004<li>R->Q at 577: in dbSNP:rs368844<li>T->A at 626: in dbSNP:rs41299260</ul>									<li>rs10919226</li><li>rs10919225</li><li>rs10919224</li><li>rs753856</li><li>rs41297710</li><li>rs570189</li><li>rs41297708</li><li>rs41297714</li><li>rs41297704</li><li>rs1079109</li><li>rs388218</li><li>rs368844</li><li>rs452004</li><li>rs41299256</li><li>rs41299260</li>	2
P17097	7553	<ul><li>G->R at 188: in dbSNP:rs1735169<li>S->L at 347: in dbSNP:rs2228180<li>L->F at 596: in dbSNP:rs1735170</ul>									<li>rs2228180</li><li>rs1735169</li><li>rs1735170</li>	2
P17181	3454	<ul><li>V->L at 168: in dbSNP:rs2257167<li>V->I at 307: in dbSNP:rs17875833<li>T->M at 359: in dbSNP:rs17875834</ul>									<li>rs17875833</li><li>rs17875834</li><li>rs2257167</li>	2
P17213	671	<ul><li>A->T at 12: in dbSNP:rs5743497<li>A->V at 12: in dbSNP:rs5743498<li>A->V at 16: in dbSNP:rs1341023<li>R->C at 90: in dbSNP:rs5743500<li>K->E at 123: in dbSNP:rs5743542<li>E->Q at 140: in dbSNP:rs5743506<li>A->V at 196: in dbSNP:rs5743509<li>E->K at 216: in dbSNP:rs4358188<li>A->V at 280: in dbSNP:rs5741804<li>V->I at 377: in dbSNP:rs5743524<li>N->D at 404: in dbSNP:rs5741809<li>K->E at 451: in dbSNP:rs5743542</ul>									<li>rs1341023</li><li>rs4358188</li><li>rs5741809</li><li>rs5743500</li><li>rs5741804</li><li>rs5743509</li><li>rs5743524</li><li>rs5743542</li><li>rs5743498</li><li>rs5743506</li><li>rs5743497</li>	2
P17252	5578	<ul><li>P->S at 98: in a colorectal adenocarcinoma sample; somatic mutation<li>D->N at 467: in a glioblastoma multiforme sample; somatic mutation<li>M->V at 489: in dbSNP rsrs34406842<li>I->V at 568: in dbSNP:rs6504459</ul>									<li>rs6504459</li><li>rs34406842</li>	2
P17275	3726	<ul><li>L->V at 230: in dbSNP:rs17880705</ul>									rs17880705	2
P17301	3673	<ul><li>K->E at 534: in alloantigen HPA-5B; dbSNP:rs1801106<li>N->K at 691: in dbSNP:rs3212557<li>N->S at 927: in dbSNP:rs2287870<li>K->Q at 1127: in dbSNP:rs3212645</ul>							<li>O82030</li><li>Q9FEW2</li><li>Q9Y251</li><li>Q90YK5</li>		<li>rs3212645</li><li>rs2287870</li><li>rs1801106</li><li>rs3212557</li>	2
P17302	2697	<ul><li>Y->S at 17: in ODDD, MIM: 164200<li>S->P at 18: in ODDD, MIM: 164200<li>G->R at 21: in ODDD; involvement of only the fourth and fifth fingers; SDTY3, MIM: 164200<li>G->E at 22: in ODDD; involvement of only the fourth and fifth fingers; SDTY3, MIM: 164200<li>K->T at 23: in ODDD, MIM: 164200<li>S->P at 27: in ODDD, MIM: 164200<li>I->M at 31: in ODDD, MIM: 164200<li>A->V at 40: in ODDD, MIM: 164200<li>Q->K at 49: in ODDD, MIM: 164200<li>F->FF at 52: in ODDD, MIM: 164200<li>S->Y at 69: in ODDD, MIM: 164200<li>R->S at 76: in ODDD, MIM: 164200<li>L->V at 90: in ODDD, MIM: 164200<li>Y->C at 98: in ODDD, MIM: 164200<li>K->N at 102: in ODDD, MIM: 164200<li>L->P at 113: in ODDD, MIM: 164200<li>D->E at 124: in dbSNP:rs2228966, MIM: 164200<li>I->T at 130: in ODDD, MIM: 164200<li>K->E at 134: in ODDD, MIM: 164200<li>K->N at 134: in ODDD, MIM: 164200<li>G->R at 138: in ODDD, MIM: 164200<li>G->S at 143: in SDTY3; dbSNP:rs28931600, MIM: 186100<li>R->Q at 148: in dbSNP:rs2228960, MIM: 186100<li>A->T at 168: in dbSNP:rs2228961, MIM: 186100<li>Y->H at 185: in dbSNP:rs2228962, MIM: 186100<li>R->C at 202: in dbSNP:rs2228964, MIM: 186100<li>R->H at 202: in ODDD, MIM: 164200<li>T->M at 204: in dbSNP:rs2228965, MIM: 164200<li>V->L at 216: in ODDD, MIM: 164200<li>R->W at 239: in dbSNP:rs2227887, MIM: 164200<li>A->V at 253: in dbSNP:rs17653265, MIM: 164200<li>P->L at 283: in dbSNP:rs2228974, MIM: 164200<li>T->N at 290: in dbSNP:rs2227881, MIM: 164200<li>R->Q at 362: in HLHS; in one individual with atrioventricular septal defect; associated with Gln-376; abolishes phosphorylation by PKA and PKC; dbSNP:rs2227885, MIM: 241550<li>R->Q at 376: in HLHS; in one individual with atrioventricular septal defect; associated with Gln-362; abolishes phosphorylation by PKA and PKC, MIM: 241550</ul>	phosphorylation	GO:0016310	PKA	GO:0004691			<li>P13678</li><li>P13677</li><li>P05130</li><li>P34722</li>	<li>Hypoplastic left heart syndrome (HLHS) [MIM:241550]</li><li>Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]</li><li>Syndactyly type III (SDTY3) [MIM:186100]</li>	<li>rs2228966</li><li>rs2228964</li><li>rs2227881</li><li>rs2228965</li><li>rs2227887</li><li>rs28931600</li><li>rs17653265</li><li>rs2228962</li><li>rs2228974</li><li>rs2228961</li><li>rs2228960</li>	2
P17405	6609	<ul><li>V->A at 36: in dbSNP:rs1050228<li>C->R at 157: seems to be less active<li>G->R at 242: in NPB, MIM: 607616<li>E->Q at 246: in NPA; 30% residual activity, MIM: 257200<li>S->R at 248: in NPA, MIM: 257200<li>L->P at 302: in NPA; in 23% of NPA Ashkenazi Jewish patients, MIM: 257200<li>V->E at 316: in dbSNP:rs12575136, MIM: 257200<li>H->Y at 319: in NPA, MIM: 257200<li>T->I at 322: in dbSNP:rs1050233, MIM: 257200<li>P->S at 371: in NPB, MIM: 607616<li>M->I at 382: in NPA, MIM: 257200<li>N->S at 383: in NPB, MIM: 607616<li>N->T at 389: in NPA, MIM: 257200<li>W->G at 391: in NPB; low sphingomyelin degradation rates, MIM: 607616<li>H->Y at 421: in NPB, MIM: 607616<li>S->R at 436: in NPB, MIM: 607616<li>Y->C at 446: in NPA, MIM: 257200<li>F->S at 463: in NPA, MIM: 257200<li>P->L at 475: in NPA, MIM: 257200<li>R->L at 496: in NPA; in 32% of NPA Ashkenazi Jewish patients, MIM: 257200<li>G->R at 506: in dbSNP:rs1050239, MIM: 257200<li>Y->H at 537: in NPA, MIM: 257200<li>G->S at 577: in NPA, MIM: 257200<li>Missing  at 608: in NPB; prevalent among NPB patients from the North African Maghreb region, MIM: 257200</ul>							<li>Q8NG41</li><li>P10776</li><li>Q8MJV4</li>	<li>Niemann-Pick disease type B (NPB) [MIM:607616]</li><li>Niemann-Pick disease type A (NPA) [MIM:257200]</li>	<li>rs12575136</li><li>rs1050233</li><li>rs1050228</li><li>rs1050239</li>	2
P17516	1109	<ul><li>G->E at 135: in dbSNP:rs11253043<li>S->C at 145: in dbSNP:rs3829125<li>C->Y at 170: in dbSNP:rs17851824<li>R->Q at 250: in dbSNP:rs4880718<li>L->V at 311: in dbSNP:rs17134592</ul>									<li>rs17851824</li><li>rs11253043</li><li>rs17134592</li><li>rs4880718</li><li>rs3829125</li>	2
P17538		<ul><li>T->A at 250: in dbSNP:rs4737</ul>									rs4737	2
P17568	4713	<ul><li>R->G at 106: in dbSNP:rs3752220</ul>									rs3752220	2
P17612	5566	<ul><li>L->V at 41: in dbSNP rsrs56029020<li>R->Q at 46: in dbSNP rsrs56085217<li>S->C at 264: in dbSNP:rs35635531</ul>									<li>rs56029020</li><li>rs56085217</li><li>rs35635531</li>	2
P17643	7306	<ul><li>R->H at 326: in dbSNP:rs16929374<li>R->Q at 356: in OCA-III, MIM: 203290</ul>								Oculocutaneous albinism type III (OCA-III) [MIM:203290]	rs16929374	2
P17655	824	<ul><li>E->D at 22: in dbSNP:rs25655<li>S->G at 68: in dbSNP:rs2230083<li>K->R at 476: in dbSNP:rs9804140<li>E->Q at 521: in dbSNP rsrs28370127<li>K->Q at 568: in dbSNP:rs17599<li>K->Q at 677: in dbSNP rsrs2230082</ul>									<li>rs2230083</li><li>rs2230082</li><li>rs17599</li><li>rs25655</li><li>rs9804140</li><li>rs28370127</li>	2
P17661	1674	<ul><li>S->I at 2: in CSM; entirely similar expression patterns as the wild-type: in dbSNP rsrs58999456, MIM: 601419<li>S->F at 46: in CSM; entirely similar expression patterns as the wild-type: in dbSNP rsrs60794845, MIM: 601419<li>S->Y at 46: in CSM; entirely similar expression patterns as the wild-type, MIM: 601419<li>Missing  at 173-179: in CSM; severe form, MIM: 601419<li>A->V at 213: in CSM, MIM: 601419<li>E->D at 245: in CSM, MIM: 601419<li>A->P at 337: in CSM; mild adult-onset; unable to form a filamentous network: in dbSNP rsrs59962885, MIM: 601419<li>N->D at 342: in CSM; unable to form a filamentous network, MIM: 601419<li>L->P at 345: in CSM; distal onset; incapable of forming filamentous networks: in dbSNP rsrs57639980, MIM: 601419<li>R->P at 350: in Kaeser syndrome and CSM; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits: in dbSNP rsrs57965306, MIM: 181400<li>R->P at 355: in CSM: in dbSNP rsrs61368398, MIM: 601419<li>A->P at 357: in CSM; unable to polymerize and form an intracellular filamentous network: in dbSNP rsrs58898021, MIM: 601419<li>Missing  at 359-361: in CSM, MIM: 601419<li>A->P at 360: in CSM; heterozygous with Ile-391 gives a severe childhood-onset; unable to form a filamentous network, MIM: 601419<li>Missing  at 366: in CSM, MIM: 601419<li>L->P at 370: in CSM; unable to polymerize and form an intracellular filamentous network: in dbSNP rsrs59308628, MIM: 601419<li>L->P at 385: in CSM: in dbSNP rsrs57955682, MIM: 601419<li>Q->P at 389: in CSM: in dbSNP rsrs28930075, MIM: 601419<li>N->I at 393: in CSM; heterozygous with Pro-358 gives a severe childhood-onset; unable to form a filamentous network, MIM: 601419<li>R->W at 406: in CSM; unable to form a filamentous network: in dbSNP rsrs61726465, MIM: 601419<li>T->I at 442: in CSM; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 601419<li>K->M at 449: in CSM, MIM: 601419<li>K->T at 449: in CSM; entirely similar expression patterns as the wild-type, MIM: 601419<li>I->M at 451: in CMD1I; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 604765<li>R->W at 454: in CSM; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 601419<li>S->I at 460: in CSM; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 601419</ul>					<li>intracellular</li><li>intermediate filaments</li>	<li>GO:0005622</li><li>GO:0005882</li>	<li>P31001</li><li>P23239</li><li>P02541</li><li>P83762</li><li>P02542</li><li>O62654</li><li>P02540</li><li>P48675</li><li>P17661</li><li>Q5XFN2</li>	<li>Desmin-related cardio-skeletal myopathy (CSM) [MIM:601419]</li><li>Cardiomyopathy dilated type 1I (CMD1I) [MIM:604765]</li><li>Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]</li>	<li>rs57955682</li><li>rs58898021</li><li>rs61726465</li><li>rs58999456</li><li>rs59308628</li><li>rs61368398</li><li>rs28930075</li><li>rs59962885</li><li>rs57965306</li><li>rs57639980</li><li>rs60794845</li>	2
P17676	1051	<ul><li>G->S at 195: in dbSNP:rs4253440</ul>									rs4253440	2
P17677	2596	<ul><li>V->I at 59: in dbSNP:rs6291<li>K->E at 162: in dbSNP:rs11557762</ul>									<li>rs6291</li><li>rs11557762</li>	2
P17735	6898	<ul><li>N->D at 70: in dbSNP:rs16973344<li>G->V at 362: in TYRO2: in dbSNP rsrs28934277, MIM: 276600</ul>								Tyrosinemia type 2 (TYRO2) [MIM:276600]	<li>rs16973344</li><li>rs28934277</li>	2
P17787	1141	<ul><li>V->L at 287: in ENFL3, MIM: 605375<li>V->M at 287: in ENFL3; approximately 10-fold increase in acetylcholine sensitivity, MIM: 605375<li>Q->H at 397: in dbSNP rsrs55685423, MIM: 605375</ul>								Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]	rs55685423	2
P17812	1503	<ul><li>S->I at 571: in dbSNP:rs17856308</ul>									rs17856308	2
P17813	2022	<ul><li>T->M at 5: in dbSNP rsrs35400405<li>L->P at 8: in HHT1, MIM: 187300<li>V->F at 49: in HHT1, MIM: 187300<li>G->V at 52: in HHT1, MIM: 187300<li>C->R at 53: in HHT1, MIM: 187300<li>L->R at 107: in HHT1, MIM: 187300<li>W->C at 149: in HHT1, MIM: 187300<li>A->D at 160: in HHT1, MIM: 187300<li>Missing  at 192-198: in HHT1, MIM: 187300<li>Missing  at 207: in HHT1, MIM: 187300<li>L->P at 221: in HHT1, MIM: 187300<li>Missing  at 232-233: in HHT1, MIM: 187300<li>I->T at 263: in HHT1, MIM: 187300<li>Missing  at 263: in HHT1, MIM: 187300<li>L->P at 306: in HHT1, MIM: 187300<li>D->H at 366: in dbSNP:rs1800956, MIM: 187300<li>C->S at 412: in HHT1, MIM: 187300<li>G->V at 413: in HHT1, MIM: 187300<li>V->M at 504: in HHT1, MIM: 187300<li>S->L at 615: in HHT1, MIM: 187300</ul>							<li>P61833</li><li>P61831</li><li>P61830</li><li>Q757N1</li><li>Q8SS77</li><li>P69150</li>	Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	<li>rs35400405</li><li>rs1800956</li>	2
P17844	1655	<ul><li>S->A at 480: in dbSNP:rs1140409</ul>									rs1140409	2
P17858	5211	<ul><li>G->A at 81<li>R->W at 151<li>D->V at 237: in dbSNP:rs1057037</ul>									rs1057037	2
P17861	7494	<ul><li>D->V at 12: in a breast cancer sample; somatic mutation<li>R->K at 232: in a breast cancer sample; somatic mutation</ul>										2
P17900	2760	<ul><li>A->T at 19: in dbSNP:rs1048719<li>I->V at 59: in dbSNP:rs153477<li>M->V at 69: in dbSNP:rs153478<li>Missing  at 88: in GM2GAB<li>C->R at 138: in GM2GAB, MIM: 272750<li>R->P at 169: in GM2GAB, MIM: 272750</ul>								GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	<li>rs153478</li><li>rs153477</li><li>rs1048719</li>	2
P17927	1378	<ul><li>H->R at 1208: in dbSNP:rs2274567<li>T->I at 1408<li>T->M at 1408: in dbSNP:rs3737002<li>K->E at 1590: in MCC: in dbSNP rsrs17047660<li>R->G at 1601: in Sl: in dbSNP rsrs17047661<li>S->T at 1610: in Sl: in dbSNP rsrs4844609<li>I->V at 1615: in dbSNP:rs6691117<li>P->R at 1827: in dbSNP:rs3811381<li>H->D at 1850</ul>									<li>rs3811381</li><li>rs17047661</li><li>rs17047660</li><li>rs2274567</li><li>rs6691117</li><li>rs3737002</li><li>rs4844609</li>	2
P17931	3958	<ul><li>P->H at 64: in dbSNP:rs4644<li>T->P at 98: in dbSNP:rs4652<li>R->K at 183: in dbSNP:rs10148371</ul>									<li>rs4652</li><li>rs4644</li><li>rs10148371</li>	2
P17936	3486	<ul><li>T->M at 7: in a colorectal cancer sample; somatic mutation<li>A->G at 32: in dbSNP:rs2854746<li>A->T at 56: in dbSNP rsrs34257987<li>H->P at 158: in dbSNP:rs9282734<li>G->S at 234: in dbSNP rsrs35712717<li>R->C at 252: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2854746</li><li>rs9282734</li><li>rs34257987</li><li>rs35712717</li>	2
P17948	2321	<ul><li>K->T at 60: in dbSNP rsrs56409818<li>I->L at 128: in dbSNP:rs35073261<li>E->K at 144: in dbSNP rsrs55974987<li>R->Q at 281: in dbSNP rsrs55687105<li>L->I at 422: in a lung adenocarcinoma sample; somatic mutation<li>R->Q at 781: in a glioma low grade oligodendroglioma sample; somatic mutation<li>M->V at 938: in dbSNP rsrs35549791<li>E->A at 982: in dbSNP:rs35832528<li>L->V at 1061: in a bladder transitional cell carcinoma sample; somatic mutation</ul>									<li>rs55974987</li><li>rs35832528</li><li>rs35549791</li><li>rs55687105</li><li>rs35073261</li><li>rs56409818</li>	2
P17987	6950	<ul><li>V->L at 7: in a breast cancer sample; somatic mutation</ul>										2
P18031	5770	<ul><li>G->S at 381: in dbSNP:rs16995304<li>P->L at 387: associated with low glucose tolerance; dbSNP:rs16995309</ul>									<li>rs16995309</li><li>rs16995304</li>	2
P18054	239	<ul><li>E->K at 259: in dbSNP:rs4987104<li>Q->R at 261: in dbSNP:rs1126667<li>A->T at 298<li>N->S at 322: in dbSNP:rs434473<li>R->H at 430: in dbSNP:rs11571342</ul>									<li>rs4987104</li><li>rs434473</li><li>rs11571342</li><li>rs1126667</li>	2
P18065	3485	<ul><li>A->D at 140</ul>										2
P18074	2068	<ul><li>G->R at 47: in XP-D, MIM: 278730<li>T->A at 76: in XP-D, MIM: 278730<li>R->H at 112: in TTDP and XP-D, MIM: 278730<li>I->M at 199: in dbSNP:rs1799791, MIM: 278730<li>H->Y at 201: in dbSNP:rs1799792, MIM: 278730<li>D->N at 234: in XP-D, MIM: 278730<li>C->Y at 259: in TTDP, MIM: 601675<li>D->N at 312: in dbSNP:rs1799793, MIM: 601675<li>L->V at 461: in XP-D and TTDP, MIM: 278730<li>Missing  at 482: in TTDP, MIM: 278730<li>L->P at 485: in XP-D; the corresponding mutation in fission yeast causes complete loss of activity, MIM: 278730<li>R->G at 487: in TTDP, MIM: 601675<li>Missing  at 488-493: in TTDP; mild, MIM: 601675<li>R->Q at 511: in XP-D, MIM: 278730<li>S->R at 541: in XP-D; mild, MIM: 278730<li>Y->C at 542: in XP-D, MIM: 278730<li>EK->VSE at 582-583: in XP-D, MIM: 278730<li>R->P at 592: in TTDP, MIM: 601675<li>A->P at 594: in TTDP, MIM: 601675<li>R->L at 601: in XP-D, MIM: 278730<li>R->W at 601: in XP-D, MIM: 278730<li>G->D at 602: in XP-D; combined with features of Cockayne syndrome, MIM: 278730<li>R->C at 616, MIM: 278730<li>R->P at 616: in XP-D and TTDP, MIM: 278730<li>R->W at 616: in XP-D and COFS2, MIM: 278730<li>R->C at 658: in TTDP, MIM: 601675<li>R->G at 658: in TTDP, MIM: 601675<li>R->H at 658: in TTDP, MIM: 601675<li>C->R at 663: in TTDP, MIM: 601675<li>R->W at 666: in XP-D, MIM: 278730<li>D->G at 673: in TTDP, MIM: 601675<li>G->R at 675: in XP-D/CS; severe form, MIM: 601675<li>D->N at 681: in XP-D and COFS2, MIM: 278730<li>R->Q at 683: in XP-D; CNS, MIM: 278730<li>R->W at 683: in XP-D; CNS; vitamin D-mediated activation of CYP24A1 is impaired in patient fibroblasts due to altered TFIIH-dependent phosphorylation of ETS1, subsequent impaired cooperation of ETS1 with VDR and altered VDR recruitement to CYP24A1 promoter: in dbSNP rsrs41556519, MIM: 278730<li>G->R at 713: in TTDP, MIM: 601675<li>Missing  at 716-730: in XP-D and TTDP, MIM: 601675<li>R->W at 722: in TTDP, MIM: 601675<li>A->P at 725: in TTDP, MIM: 601675<li>K->Q at 751: may be linked to a reduced activity; dbSNP:rs13181, MIM: 601675</ul>	phosphorylation	GO:0016310					<li>P13053</li><li>P13474</li><li>P11473</li><li>O42392</li><li>Q95MH5</li><li>Q28037</li><li>O13124</li><li>P15062</li><li>P14921</li><li>P49701</li><li>P48281</li><li>Q07973</li>	<li>Trichothiodystrophy photosensitive (TTDP) [MIM:601675]</li><li>Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]</li><li>Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]</li>	<li>rs1799791</li><li>rs1799792</li><li>rs1799793</li><li>rs41556519</li><li>rs13181</li>	2
P18084	3693	<ul><li>L->V at 428: in dbSNP:rs2291090<li>R->Q at 431: in dbSNP:rs2291089<li>N->S at 477: in dbSNP:rs2291087</ul>									<li>rs2291090</li><li>rs2291087</li><li>rs2291089</li>	2
P18085	378	<ul><li>V->A at 68: in dbSNP:rs11550597</ul>									rs11550597	2
P18089	151	<ul><li>G->A at 211: in dbSNP:rs9333568<li>Missing  at 301-303: common polymorphism; frequency in Caucasians 0.31 and in African-Americans 0.12; impaired phosphorylation and desensitization by GRKs<li>V->I at 376: in dbSNP:rs29000569<li>V->G at 379<li>V->I at 379: in dbSNP:rs29000569</ul>	phosphorylation	GO:0016310							<li>rs29000569</li><li>rs9333568</li>	2
P18146	1958	<ul><li>T->I at 28: in dbSNP:rs13181973<li>N->K at 144: in dbSNP:rs28365166<li>S->R at 145: in dbSNP:rs28365164<li>E->D at 219: in dbSNP:rs28365165</ul>									<li>rs28365164</li><li>rs28365165</li><li>rs28365166</li><li>rs13181973</li>	2
P18206	7414	<ul><li>V->L at 234: in dbSNP:rs17853882<li>L->M at 277: in CMD1W, MIM: 611407<li>A->V at 934: in dbSNP:rs16931179, MIM: 611407<li>P->A at 943, MIM: 611407<li>Missing  at 954: in CMD1W, MIM: 611407<li>R->W at 975: in CMD1W; significantly alters metavinculin-mediated cross-linking of actin filaments, MIM: 611407</ul>							<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>O17320</li><li>P53689</li><li>P78711</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P20904</li><li>P45520</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q64727</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P18206</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>P12003</li><li>P14235</li><li>O00937</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>Q04615</li><li>P24902</li><li>O74258</li><li>P26234</li>	Cardiomyopathy dilated type 1W (CMD1W) [MIM:611407]	<li>rs17853882</li><li>rs16931179</li>	2
P18283	2877	<ul><li>A->L at 37: requires 2 nucleotide substitutions<li>P->L at 126: in dbSNP:rs17881652<li>R->C at 146: in dbSNP:rs17880492<li>I->M at 176</ul>									<li>rs17881652</li><li>rs17880492</li>	2
P18428	3929	<ul><li>P->L at 9: in dbSNP:rs2232580<li>R->Q at 111: in dbSNP:rs2232583<li>L->I at 125: in dbSNP:rs2232585<li>E->K at 147: in dbSNP:rs36015492<li>V->M at 166: in dbSNP:rs5744204<li>M->I at 242: in dbSNP:rs2232601<li>D->G at 283: in dbSNP:rs2232607<li>H->R at 294: in dbSNP:rs2232608<li>P->L at 333: in dbSNP:rs2232613<li>L->F at 339: in dbSNP:rs5744212<li>I->T at 364: in dbSNP:rs2232615<li>F->L at 436: in dbSNP:rs2232618<li>A->T at 445: in dbSNP:rs2232619</ul>									<li>rs2232580</li><li>rs36015492</li><li>rs5744204</li><li>rs2232613</li><li>rs2232615</li><li>rs2232618</li><li>rs2232608</li><li>rs2232607</li><li>rs2232619</li><li>rs2232601</li><li>rs5744212</li><li>rs2232583</li><li>rs2232585</li>	2
P18440	9	<ul><li>R->W at 64: in allele NAT1*17; a slow acetylator; has defective enzyme activity; dbSNP:rs56379106<li>R->T at 117: in allele NAT1*5; dbSNP:rs55641436<li>V->I at 149: in allele NAT1*11; catalyzes the N-acetylation of aromatic amines and the O- and N,O-acetylation of their N-hydroxylated metabolites at rates up to 2-fold higher; dbSNP:rs4987076<li>RE->TQ at 166-167: in allele NAT1*5<li>R->Q at 187: in allele NAT1*14; a slow acetylator; dbSNP:rs4986782<li>M->V at 205: in allele NAT1*21<li>T->I at 207: in dbSNP:rs4987195<li>S->A at 214: in allele NAT1*11; dbSNP:rs4986783<li>D->V at 251: in allele NAT1*22; dbSNP:rs56172717<li>E->K at 261: in allele NAT1*24<li>I->V at 263: in allele NAT1*25</ul>							<li>P18605</li><li>P23975</li><li>P18440</li><li>P79398</li><li>P12945</li><li>P50292</li><li>Q99624</li>		<li>rs55641436</li><li>rs56379106</li><li>rs4987076</li><li>rs4987195</li><li>rs56172717</li><li>rs4986782</li><li>rs4986783</li>	2
P18462		<ul><li>Y->F at 33: in allele A*2503<li>H->Q at 94: in allele A*2502</ul>										2
P18463		<ul><li>T->N at 104: in allele B*3705<li>LR->RG at 106-107: in allele B*3705<li>Y->H at 195: in allele B*3704</ul>										2
P18464		<ul><li>TWQT->IIQR at 118-121: in allele B*5104<li>S->R at 155: in allele B*5124<li>E->V at 176: in allele B*5108<li>L->D at 180: in allele B*5108; requires 2 nucleotide substitutions<li>W->G at 191: in allele B*5103<li>H->Y at 195: in allele B*5102</ul>										2
P18465		<ul><li>V->R at 121: in allele B*5705; requires 2 nucleotide substitutions<li>V->L at 127: in allele B*5705<li>H->Y at 137: in allele B*5705<li>D->N at 138: in allele B*5702, allele B*5703 and allele B*5705<li>S->Y at 140: in allele B*5702, allele B*5703 and allele B*5705<li>L->R at 180: in allele B*5702 and allele B*5705</ul>										2
P18505	2560	<ul><li>H->Q at 421: found in 1.1% of population and in some schizophrenic patients; dbSNP:rs41311286<li>I->N at 429: in dbSNP:rs17852014</ul>									<li>rs41311286</li><li>rs17852014</li>	2
P18507	2566	<ul><li>R->Q at 82: in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam: in dbSNP rsrs28933070, MIM: 611277<li>R->G at 177: in FEB8, MIM: 611277<li>K->M at 328: in GEFS+3, MIM: 604233</ul>							O23087	<li>Generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:604233]</li><li>Childhood absence epilepsy type 2 (ECA2) [MIM:607681]</li><li>Familial febrile convulsions type 8 (FEB8) [MIM:611277]</li>	rs28933070	2
P18509	116	<ul><li>D->G at 54: in dbSNP:rs2856966</ul>									rs2856966	2
P18510	3557	<ul><li>A->T at 124: in dbSNP:rs45507693</ul>									rs45507693	2
P18545	5148	<ul><li>P->H at 27</ul>										2
P18564	3694	<ul><li>P->T at 437: in dbSNP:rs2305820</ul>									rs2305820	2
P18577	6006	<ul><li>W->C at 16: associated with altered expression of E antigen<li>A->T at 36: in C<li>Q->R at 41: in C<li>L->I at 60<li>N->S at 68: in dbSNP:rs1053344<li>P->S at 103: in C/Rh2 antigen; dbSNP:rs676785<li>A->V at 127: in dbSNP:rs1053346<li>G->D at 128: in dbSNP:rs1053347<li>R->T at 154: in RhEKH<li>T->S at 182: in dbSNP:rs1053350<li>N->K at 198: in dbSNP:rs1053354<li>P->A at 226: in E/Rh5 antigen; dbSNP:rs609320<li>Q->E at 233: in RhEFM<li>M->V at 238: in RhEFM<li>L->V at 245: in VS antigen; dbSNP:rs1053361<li>H->P at 323: in dbSNP:rs1053366<li>I->S at 325: in dbSNP:rs1053367<li>H->D at 329: in dbSNP:rs1053370<li>H->R at 329: in dbSNP:rs1053371<li>S->Y at 330: in dbSNP:rs1053372<li>I->N at 331: in dbSNP:rs1053373</ul>							<li>P08099</li><li>P28679</li><li>P91657</li>		<li>rs1053347</li><li>rs1053366</li><li>rs1053373</li><li>rs1053354</li><li>rs1053367</li><li>rs1053372</li><li>rs609320</li><li>rs1053361</li><li>rs1053350</li><li>rs1053344</li><li>rs676785</li><li>rs1053346</li><li>rs1053370</li><li>rs1053371</li>	2
P18825	152	<ul><li>Missing at 322-325</ul>										2
P18827	6382	<ul><li>T->M at 76: in dbSNP:rs2230922<li>L->Q at 136: in dbSNP:rs10205485</ul>									<li>rs2230922</li><li>rs10205485</li>	2
P18846	466	<ul><li>P->A at 191: in dbSNP:rs2230674</ul>									rs2230674	2
P18847	467	<ul><li>T->M at 38: in dbSNP:rs11571541</ul>									rs11571541	2
P18848	468	<ul><li>Q->P at 22: in dbSNP:rs4894<li>P->A at 258: in dbSNP:rs1803323<li>E->D at 322: in dbSNP:rs1803324</ul>									<li>rs1803324</li><li>rs1803323</li><li>rs4894</li>	2
P18850	22926	<ul><li>M->L at 67: in dbSNP:rs1058405<li>M->V at 67: in dbSNP:rs1058405<li>A->P at 145: in dbSNP:rs2070150<li>P->S at 157: in dbSNP:rs1135983</ul>									<li>rs1135983</li><li>rs2070150</li><li>rs1058405</li>	2
P18858	3978	<ul><li>A->V at 24: in dbSNP:rs3730855<li>P->L at 52: in dbSNP:rs4987181<li>R->W at 62: in dbSNP:rs3730863<li>D->G at 72: in dbSNP:rs4987070<li>K->E at 152: in a colorectal cancer sample; somatic mutation<li>G->E at 249: in dbSNP:rs3730911<li>N->S at 267: in dbSNP:rs3730933<li>V->M at 349: in dbSNP:rs3730947<li>V->I at 369: in dbSNP:rs3730966<li>R->H at 409: in dbSNP:rs4987068<li>M->V at 480: in dbSNP:rs3730980<li>E->K at 566: in LIG1 deficiency<li>S->L at 612: in a colorectal cancer sample; somatic mutation<li>T->I at 614: in dbSNP:rs3731003<li>R->L at 677: in dbSNP:rs3731008<li>R->W at 771: in LIG1 deficiency</ul>							<li>P18858</li><li>Q96JA1</li><li>P43075</li>		<li>rs3730947</li><li>rs3730855</li><li>rs3730911</li><li>rs3730980</li><li>rs4987068</li><li>rs3730863</li><li>rs4987181</li><li>rs3731008</li><li>rs3730966</li><li>rs3731003</li><li>rs4987070</li><li>rs3730933</li>	2
P18887		<ul><li>R->L at 7: in dbSNP:rs2307186<li>V->M at 10: in dbSNP:rs2307171<li>V->A at 72: in dbSNP:rs25496<li>R->H at 107: in dbSNP:rs2228487<li>E->K at 157: in dbSNP:rs2307180<li>P->L at 161: in dbSNP:rs2307191<li>R->W at 194: in dbSNP:rs1799782<li>R->H at 280: in dbSNP:rs25489<li>K->N at 298: in dbSNP:rs2307188<li>T->A at 304: in dbSNP:rs25490<li>P->S at 309: in dbSNP:rs25491<li>R->W at 350: in a colorectal cancer sample; somatic mutation<li>R->Q at 399: in dbSNP:rs25487<li>S->Y at 485: in dbSNP:rs2307184<li>P->L at 514: in dbSNP:rs25474<li>R->Q at 559: in dbSNP:rs2307167<li>R->W at 560: in dbSNP:rs2307166<li>Y->S at 576: in dbSNP:rs2307177</ul>									<li>rs25489</li><li>rs2307188</li><li>rs25490</li><li>rs2307171</li><li>rs25474</li><li>rs25487</li><li>rs25496</li><li>rs1799782</li><li>rs2307180</li><li>rs2228487</li><li>rs2307191</li><li>rs2307166</li><li>rs2307167</li><li>rs25491</li><li>rs2307184</li><li>rs2307177</li><li>rs2307186</li>	2
P19012	3866	<ul><li>T->A at 147: in dbSNP:rs1050784<li>K->R at 416: in dbSNP:rs2305556<li>G->A at 421: in dbSNP:rs897420</ul>									<li>rs897420</li><li>rs1050784</li><li>rs2305556</li>	2
P19013	3851	<ul><li>A->V at 72: in allele K4A1<li>Missing  at 83-96: in allele K4B<li>E->EQ at 153: in WSN<li>E->K at 449: in WSN, MIM: 193900</ul>								White sponge nevus of cannon (WSN) [MIM:193900]		2
P19022	1000	<ul><li>A->T at 21: in dbSNP:rs17495042<li>A->T at 118: in dbSNP:rs17445840<li>S->T at 196: in dbSNP:rs1041970<li>I->L at 212: in dbSNP:rs1041972<li>T->A at 454: in dbSNP:rs17857112<li>N->S at 845: in dbSNP:rs2289664</ul>									<li>rs2289664</li><li>rs17857112</li><li>rs17495042</li><li>rs1041972</li><li>rs17445840</li><li>rs1041970</li>	2
P19075	7103	<ul><li>G->A at 73: in dbSNP:rs3763978<li>S->A at 213: in dbSNP:rs1051334</ul>									<li>rs3763978</li><li>rs1051334</li>	2
P19087	2780	<ul><li>L->I at 107: in dbSNP:rs3738766<li>V->M at 124: in dbSNP:rs41280330<li>G->D at 183: in dbSNP:rs1799940</ul>									<li>rs41280330</li><li>rs1799940</li><li>rs3738766</li>	2
P19099	1585	<ul><li>A->T at 29: in dbSNP:rs6438<li>R->Q at 30: in dbSNP:rs6441<li>N->NRL at 140: in CMO-1 deficiency; the enzyme is inactive<li>K->R at 173: in dbSNP:rs4539<li>R->W at 181: in CMO-2 deficiency; reduces 18-hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact: in dbSNP rsrs28931609, MIM: 610600<li>T->I at 185: in CMO-2 deficiency, MIM: 610600<li>E->D at 198: in CMO-2 deficiency, MIM: 610600<li>N->T at 222: in dbSNP:rs5308, MIM: 610600<li>I->T at 248: in dbSNP:rs4547, MIM: 610600<li>N->S at 281: in dbSNP:rs4537, MIM: 610600<li>I->T at 339: in dbSNP:rs4544, MIM: 610600<li>E->V at 383: in dbSNP:rs5312, MIM: 610600<li>V->A at 386: in CMO-2 deficiency; small but consistent reduction in the production of 18-hydroxycorticosterone; dbSNP:rs4541, MIM: 610600<li>V->E at 403: in dbSNP:rs5315, MIM: 610600<li>G->S at 435: in dbSNP:rs4545, MIM: 610600<li>L->P at 461: in CMO-1 deficiency; abolishes the 18-hydroxylase activity required for conversion of 11-deoxycorticosterone to aldosterone, MIM: 203400<li>F->V at 487: in dbSNP:rs5317, MIM: 203400<li>T->A at 498: in CMO-2 deficiency, MIM: 610600</ul>							<li>O04121</li><li>Q9LKN0</li><li>O22553</li><li>Q93XE1</li>	<li>Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]</li><li>Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400]</li>	<li>rs4539</li><li>rs4547</li><li>rs4545</li><li>rs4544</li><li>rs28931609</li><li>rs5308</li><li>rs6438</li><li>rs5317</li><li>rs5312</li><li>rs5315</li><li>rs4537</li><li>rs6441</li>	2
P19113	3067	<ul><li>T->M at 31: in dbSNP:rs17740607<li>E->V at 49: in a colorectal cancer sample; somatic mutation<li>E->K at 285: in a colorectal cancer sample; somatic mutation<li>F->L at 553: in dbSNP:rs16963486<li>E->D at 644: in dbSNP:rs2073440</ul>									<li>rs2073440</li><li>rs17740607</li><li>rs16963486</li>	2
P19174	5335	<ul><li>T->N at 209: in dbSNP:rs2229348<li>S->G at 279: in dbSNP:rs2228246<li>S->T at 739: in dbSNP rsrs34203315<li>I->T at 813: in dbSNP:rs753381</ul>									<li>rs2229348</li><li>rs34203315</li><li>rs2228246</li><li>rs753381</li>	2
P19224	54578	<ul><li>S->A at 7: in allele UGT1A6*2, allele UGT1A6*3 and allele UGT1A6*4; dbSNP:rs6759892<li>S->Y at 70: in dbSNP:rs1042708<li>T->A at 181: in allele UGT1A6*2; dbSNP:rs2070959<li>R->S at 184: in allele UGT1A6*2 and allele UGT1A6*4; dbSNP:rs1105879<li>A->P at 510: in dbSNP:rs1042709</ul>							<li>Q28611</li><li>P19224</li><li>P08430</li><li>Q64435</li>		<li>rs2070959</li><li>rs1042708</li><li>rs1042709</li><li>rs6759892</li><li>rs1105879</li>	2
P19235	2057	<ul><li>P->A at 380: in dbSNP:rs35423344<li>N->S at 487: in ECYT1 and erythroleukemia, MIM: 133100<li>P->S at 488: in ECYT1, MIM: 133100</ul>								Erythrocytosis familial type 1 (ECYT1) [MIM:133100]	rs35423344	2
P19237	7135	<ul><li>R->W at 67: in dbSNP:rs2296695</ul>									rs2296695	2
P19256	965	<ul><li>S->G at 15: in dbSNP:rs17426456</ul>									rs17426456	2
P19320	7412	<ul><li>M->I at 18: in dbSNP:rs34228330<li>S->F at 318: in dbSNP:rs3783611<li>T->A at 384: in dbSNP:rs3783612<li>G->A at 413: in dbSNP:rs3783613<li>V->I at 421: in dbSNP:rs34100871<li>H->R at 488: in dbSNP:rs34199378<li>I->L at 716: in dbSNP:rs3783615</ul>									<li>rs3783613</li><li>rs3783615</li><li>rs34199378</li><li>rs34100871</li><li>rs34228330</li><li>rs3783612</li><li>rs3783611</li>	2
P19338	4691	<ul><li>P->L at 68: in dbSNP:rs11542691<li>P->L at 122: in dbSNP:rs11542687<li>A->V at 174: in dbSNP:rs11542689</ul>									<li>rs11542691</li><li>rs11542689</li><li>rs11542687</li>	2
P19367	3098	<ul><li>L->S at 529: in hexokinase deficiency, MIM: 235700<li>T->S at 680: in hexokinase deficiency; HK Utrecht, MIM: 235700<li>L->M at 776: in dbSNP:rs1054203, MIM: 235700</ul>							<li>Q969A8</li><li>Q26609</li><li>P80581</li><li>P50506</li><li>P33284</li><li>Q02155</li>	Hexokinase deficiency [MIM:235700]	rs1054203	2
P19388	5434	<ul><li>S->F at 44: in dbSNP:rs12459404</ul>									rs12459404	2
P19404	4729	<ul><li>V->A at 29: in dbSNP:rs906807</ul>									rs906807	2
P19419	2002	<ul><li>G->S at 144: in dbSNP:rs1997639<li>S->N at 183: in dbSNP:rs1059579</ul>									<li>rs1997639</li><li>rs1059579</li>	2
P19429	7137	<ul><li>A->V at 2: in CMD2A, MIM: 611880<li>R->C at 79: in dbSNP:rs3729712, MIM: 611880<li>P->S at 82: in CMH7, MIM: 191044<li>R->Q at 141: in CMH7, MIM: 191044<li>L->Q at 144: in RCM1, MIM: 115210<li>R->G at 145: in CMH7, MIM: 191044<li>R->W at 145: in RCM1: in dbSNP rsrs28934871, MIM: 115210<li>A->V at 157: in CMH7, MIM: 191044<li>R->P at 162: in CMH7, MIM: 191044<li>R->Q at 162: in CMH7, MIM: 191044<li>S->F at 166: in CMH7, MIM: 191044<li>A->T at 171: in RCM1, MIM: 115210<li>Missing  at 177: in CMH7, MIM: 115210<li>K->E at 178: in RCM1: in dbSNP rsrs28934870, MIM: 115210<li>R->Q at 186: in CMH7, MIM: 191044<li>D->H at 190: in CMH7 and RCM1, MIM: 115210<li>R->H at 192: in RCM1, MIM: 115210<li>D->N at 196: in CMH7, MIM: 191044<li>R->H at 204: in CMH7, MIM: 191044<li>K->Q at 206: in CMH7, MIM: 191044</ul>								<li>Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]</li><li>Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]</li><li>Cardiomyopathy dilated type 2A (CMD2A) [MIM:611880]</li>	<li>rs28934871</li><li>rs28934870</li><li>rs3729712</li>	2
P19438	7132	<ul><li>H->Q at 51: in FHF, MIM: 142680<li>C->R at 59: in FHF, MIM: 142680<li>C->S at 59: in FHF, MIM: 142680<li>C->G at 62: in FHF, MIM: 142680<li>C->Y at 62: in FHF, MIM: 142680<li>P->L at 75: in FHF; may be a polymorphism; dbSNP:rs4149637, MIM: 142680<li>T->M at 79: in FHF, MIM: 142680<li>C->F at 81: in FHF, MIM: 142680<li>C->S at 99: in FHF, MIM: 142680<li>S->G at 115: in FHF, MIM: 142680<li>C->R at 117: in FHF, MIM: 142680<li>C->Y at 117: in FHF, MIM: 142680<li>R->P at 121: in FHF, MIM: 142680<li>R->Q at 121: in FHF; may be a polymorphism; dbSNP:rs4149584, MIM: 142680<li>P->T at 305: in dbSNP:rs1804532, MIM: 142680</ul>								Familial hibernian fever (FHF) [MIM:142680]	<li>rs1804532</li><li>rs4149584</li><li>rs4149637</li>	2
P19440	2678	<ul><li>S->L at 51: in dbSNP:rs2330837<li>K->E at 52: in dbSNP:rs2330838<li>A->V at 177: in dbSNP:rs3895576<li>V->A at 272: in dbSNP:rs4049829<li>N->D at 419: in dbSNP:rs17004876<li>V->A at 435: in dbSNP:rs16986465</ul>									<li>rs17004876</li><li>rs4049829</li><li>rs2330838</li><li>rs16986465</li><li>rs2330837</li><li>rs3895576</li>	2
P19447	2071	<ul><li>F->S at 99: in XP-B; combined with features of Cockayne syndrome; mild, MIM: 610651<li>K->R at 117: in dbSNP:rs1805161, MIM: 610651<li>T->P at 119: in TTDP; mild, MIM: 601675<li>G->C at 402: in dbSNP:rs1805162, MIM: 601675<li>K->Q at 418: in a breast cancer sample; somatic mutation, MIM: 601675<li>S->L at 704: in dbSNP:rs4150521, MIM: 601675<li>S->P at 735: in dbSNP:rs4150522, MIM: 601675</ul>								<li>Trichothiodystrophy photosensitive (TTDP) [MIM:601675]</li><li>Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]</li>	<li>rs4150522</li><li>rs4150521</li><li>rs1805161</li><li>rs1805162</li>	2
P19474	6737	<ul><li>P->A at 52: in dbSNP:rs1042302<li>G->R at 96: in dbSNP:rs2975162<li>E->K at 231: in dbSNP:rs2554934</ul>									<li>rs2554934</li><li>rs2975162</li><li>rs1042302</li>	2
P19525	5610	<ul><li>V->E at 428: in dbSNP rsrs56219559<li>L->V at 439: in a lung adenocarcinoma sample; somatic mutation<li>I->V at 506: in dbSNP rsrs34821155</ul>									<li>rs56219559</li><li>rs34821155</li>	2
P19526	2523	<ul><li>A->V at 12: in dbSNP:rs2071699<li>D->Y at 148: in para-Bombay allele H4: in dbSNP rsrs56346833<li>Y->C at 154: in Bombay H-<li>Y->H at 154: in para-Bombay allele H5: in dbSNP rsrs55678037<li>L->H at 164: in para-Bombay<li>W->C at 171: in Bombay H-<li>Y->H at 241: in para-Bombay allele H3: in dbSNP rsrs55907428<li>L->R at 242: in Bombay H-: in dbSNP rsrs28934588<li>V->E at 259: in Bombay H-<li>A->V at 315: in Bombay H-<li>E->K at 348: in para-Bombay allele H5: in dbSNP rsrs56131151<li>W->C at 349: in Bombay H-</ul>									<li>rs55907428</li><li>rs28934588</li><li>rs56346833</li><li>rs56131151</li><li>rs2071699</li><li>rs55678037</li>	2
P19532	7030	<ul><li>S->C at 96: in dbSNP:rs5953258<li>T->A at 313: in dbSNP:rs3027470</ul>									<li>rs5953258</li><li>rs3027470</li>	2
P19544	7490	<ul><li>A->T at 131: in hypospadias<li>P->S at 181: in WT1; dbSNP:rs2234584, MIM: 194070<li>S->N at 223: in WT1, MIM: 194070<li>G->A at 253: in WT1, MIM: 194070<li>S->G at 273: in mesothelioma, MIM: 194070<li>R->Q at 312: in IDMS, MIM: 256370<li>C->Y at 330: in DDS, MIM: 194080<li>M->R at 342: in DDS, MIM: 194080<li>C->G at 355: in WT1, MIM: 194070<li>C->Y at 355: in DDS, MIM: 194080<li>C->G at 360: in DDS, MIM: 194080<li>C->Y at 360: in DDS, MIM: 194080<li>F->L at 364: in nephrotic syndrome, MIM: 194080<li>R->C at 366: in WT1, DDS and Meacham syndrome, MIM: 194070<li>R->H at 366: in DDS and WT1, MIM: 194070<li>R->L at 366: in DDS, MIM: 194080<li>Q->P at 369: in DDS, MIM: 194080<li>H->Q at 373: in DDS and WT1, MIM: 194070<li>H->Y at 373: in DDS, MIM: 194080<li>H->R at 377: in DDS, MIM: 194080<li>H->Y at 377: in IDMS, MIM: 256370<li>G->C at 379: in nephrotic syndrome, MIM: 256370<li>F->L at 383: in IDMS, MIM: 256370<li>C->R at 385: in DDS, MIM: 194080<li>C->F at 388: in DDS, MIM: 194080<li>C->R at 388: in nephrotic syndrome, MIM: 194080<li>C->Y at 388: in DDS, MIM: 194080<li>F->L at 392: in FS, MIM: 136680<li>R->L at 394: in WT1, MIM: 194070<li>R->P at 394: in DDS, MIM: 194080<li>R->Q at 394: in DDS, MIM: 194080<li>R->W at 394: in DDS, WT1 and Meacham syndrome, MIM: 194070<li>D->G at 396: in DDS, MIM: 194080<li>D->N at 396: in DDS and IDMS, MIM: 256370<li>D->Y at 396: in DDS, MIM: 194080<li>H->P at 397: in nephrotic syndrome, MIM: 194080<li>L->P at 398: in DDS, MIM: 194080<li>H->Y at 401: in DDS, MIM: 194080<li>H->R at 405: in DDS, MIM: 194080</ul>							<li>O62651</li><li>P19544</li><li>P49953</li><li>P50902</li>	<li>Frasier syndrome (FS) [MIM:136680]</li><li>Isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]</li><li>Wilms tumor 1 (WT1) [MIM:194070]</li><li>Denys-Drash syndrome (DDS) [MIM:194080]</li><li>Meacham syndrome [MIM:608978]</li>		2
P19622	2020	<ul><li>L->F at 121: in dbSNP:rs3735653</ul>									rs3735653	2
P19623	6723	<ul><li>L->V at 149: in dbSNP:rs1049932</ul>									rs1049932	2
P19634	6548	<ul><li>N->K at 682: in dbSNP:rs35703140</ul>									rs35703140	2
P19652	5005	<ul><li>R->Q at 38: in dbSNP:rs17650<li>V->A at 99: in dbSNP:rs2636889<li>G->R at 141: in dbSNP:rs12685968<li>C->R at 167: in dbSNP:rs1126777<li>M->V at 174: in dbSNP:rs2636890</ul>									<li>rs1126777</li><li>rs12685968</li><li>rs17650</li><li>rs2636890</li><li>rs2636889</li>	2
P19784	1459	<ul><li>E->A at 188: in dbSNP rsrs55911801</ul>									rs55911801	2
P19793	6256	<ul><li>P->L at 261: in dbSNP:rs2234960<li>A->S at 327: in dbSNP:rs1805345<li>S->I at 336: in dbSNP:rs1805345<li>A->V at 398: in dbSNP:rs11542209</ul>									<li>rs1805345</li><li>rs2234960</li><li>rs11542209</li>	2
P19801	26	<ul><li>T->M at 16: in dbSNP rsrs10156191<li>S->F at 332: in dbSNP rsrs1049742<li>M->I at 479: in dbSNP rsrs45558339<li>D->H at 645: in dbSNP:rs1049793<li>N->H at 659: in dbSNP rsrs35070995</ul>									<li>rs35070995</li><li>rs10156191</li><li>rs1049793</li><li>rs1049742</li><li>rs45558339</li>	2
P19827	3697	<ul><li>S->T at 263: in dbSNP:rs1042777<li>E->V at 585: in allele ITIH1*2; dbSNP:rs678<li>Q->R at 595: in allele ITIH1*2 and allele ITIH1*3; dbSNP:rs1042779<li>G->C at 695: in dbSNP:rs1042904<li>D->E at 844: in dbSNP:rs1042849</ul>							<li>P97278</li><li>Q29052</li><li>P19827</li>		<li>rs1042849</li><li>rs1042777</li><li>rs1042904</li><li>rs1042779</li><li>rs678</li>	2
P19838	4790	<ul><li>T->I at 489: in dbSNP rsrs4648065<li>M->V at 506: in dbSNP rsrs4648072<li>T->I at 566: in dbSNP rsrs4648085<li>R->K at 578: in dbSNP rsrs4648086<li>H->Q at 711: in dbSNP rsrs4648099<li>A->T at 901: in dbSNP rsrs4648118</ul>									<li>rs4648099</li><li>rs4648072</li><li>rs4648118</li><li>rs4648065</li><li>rs4648086</li><li>rs4648085</li>	2
P19878	4688	<ul><li>Missing  at 19-21: in CGD2<li>R->Q at 77: in CGD2, MIM: 233710<li>G->E at 78: in CGD2, MIM: 233710<li>A->V at 128: in CGD2, MIM: 233710<li>DK->EV at 160-161: in CGD2, MIM: 233710<li>K->R at 181: in dbSNP:rs2274064, MIM: 233710<li>T->M at 279: in dbSNP:rs13306581, MIM: 233710<li>V->A at 297: in dbSNP:rs35937854, MIM: 233710<li>R->K at 328, MIM: 233710<li>H->Q at 389: in dbSNP:rs17849502, MIM: 233710<li>R->W at 395: in AR-CGD; dbSNP:rs13306575, MIM: 233710<li>N->I at 419: in dbSNP:rs35012521, MIM: 233710</ul>								Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	<li>rs35937854</li><li>rs2274064</li><li>rs13306581</li><li>rs35012521</li><li>rs13306575</li><li>rs17849502</li>	2
P19883	10468	<ul><li>E->Q at 152: in dbSNP:rs11745088</ul>									rs11745088	2
P19957	5266	<ul><li>T->M at 17: in dbSNP:rs17333103<li>T->P at 34: in dbSNP:rs2664581</ul>									<li>rs17333103</li><li>rs2664581</li>	2
P19971	1890	<ul><li>R->Q at 44: in MNGIE: in dbSNP rsrs28931613, MIM: 603041<li>G->R at 145: in MNGIE, MIM: 603041<li>G->S at 153: in MNGIE, MIM: 603041<li>K->R at 222: in MNGIE, MIM: 603041<li>E->A at 289: in MNGIE, MIM: 603041<li>Missing  at 397-398: in MNGIE, MIM: 603041<li>S->L at 471: in dbSNP:rs11479, MIM: 603041</ul>								Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	<li>rs28931613</li><li>rs11479</li>	2
P20020	490	<ul><li>M->R at 267: rare polymorphism</ul>										2
P20023	1380	<ul><li>S->N at 639: in dbSNP:rs17615<li>I->V at 993: in dbSNP:rs17258982<li>A->E at 1003: in dbSNP:rs6540433</ul>									<li>rs17615</li><li>rs17258982</li><li>rs6540433</li>	2
P20036	3113	<ul><li>A->T at 42: in dbSNP:rs1126533<li>A->V at 42: in dbSNP:rs1126534<li>M->L at 62: in dbSNP:rs2308911<li>Q->R at 81: in dbSNP:rs1042178<li>L->S at 97: in dbSNP:rs2308917<li>T->A at 114: in dbSNP:rs1126542<li>K->R at 142: in dbSNP:rs1042190<li>F->V at 191: in dbSNP:rs1042308</ul>									<li>rs1126534</li><li>rs1042308</li><li>rs1126533</li><li>rs2308917</li><li>rs1042190</li><li>rs1126542</li><li>rs1042178</li><li>rs2308911</li>	2
P20039		<ul><li>R->E at 100: in allele DRB1*1103; requires 2 nucleotide substitutions<li>G->V at 115: in allele DRB1*1103 and allele DRB1*1104</ul>							Q8IUH3			2
P20042	8894	<ul><li>E->D at 177: in dbSNP:rs17856024</ul>									rs17856024	2
P20061	6947	<ul><li>R->H at 35: in dbSNP:rs34528912<li>D->Y at 301: in dbSNP:rs34324219</ul>									<li>rs34324219</li><li>rs34528912</li>	2
P20062	6948	<ul><li>I->V at 23: in dbSNP:rs9606756<li>F->L at 89: in dbSNP:rs35915865<li>M->T at 198<li>R->W at 215: in dbSNP:rs35838082<li>I->L at 219<li>R->Q at 227: in dbSNP:rs17849434<li>R->P at 259: in dbSNP:rs1801198<li>S->F at 348: in dbSNP:rs9621049<li>L->S at 376: in dbSNP:rs1131603<li>R->Q at 399: in dbSNP:rs4820889</ul>									<li>rs17849434</li><li>rs4820889</li><li>rs35915865</li><li>rs9606756</li><li>rs35838082</li><li>rs1801198</li><li>rs1131603</li><li>rs9621049</li>	2
P20073	310	<ul><li>R->Q at 441: in dbSNP:rs3750575</ul>									rs3750575	2
P20138	945	<ul><li>A->V at 14: in dbSNP:rs12459419<li>W->R at 22: in dbSNP:rs35814802<li>R->G at 69: in dbSNP:rs2455069<li>S->N at 128: in dbSNP:rs34919259<li>R->W at 202: in dbSNP:rs4082929<li>I->L at 242: in dbSNP:rs988337<li>F->L at 243: in dbSNP:rs11882250<li>V->L at 294: in dbSNP:rs2271652<li>G->R at 304: in dbSNP:rs35112940<li>T->A at 331: in dbSNP:rs35632246</ul>									<li>rs4082929</li><li>rs2455069</li><li>rs11882250</li><li>rs12459419</li><li>rs35112940</li><li>rs35814802</li><li>rs988337</li><li>rs34919259</li><li>rs35632246</li><li>rs2271652</li>	2
P20151	3817	<ul><li>V->L at 18: in dbSNP:rs6072<li>R->W at 250: in dbSNP:rs198977</ul>									<li>rs6072</li><li>rs198977</li>	2
P20160	566	<ul><li>Missing  at 248: in 50% of the molecules</ul>										2
P20226	6908	<ul><li>Missing at 92-95</ul>										2
P20231	7177	<ul><li>HGP->RDR at 51-53: in beta-III</ul>										2
P20248	890	<ul><li>V->I at 163: in dbSNP:rs769242</ul>									rs769242	2
P20273	933	<ul><li>A->T at 34<li>Q->E at 152: observed with a marginally higher frequency in patients with systemic lupus erythematosus<li>E->K at 203<li>G->R at 551: in dbSNP:rs35715143<li>Y->H at 639: in dbSNP:rs1058407<li>S->G at 664: in dbSNP:rs17719289<li>R->C at 669<li>G->D at 745: in dbSNP:rs10406069</ul>									<li>rs1058407</li><li>rs35715143</li><li>rs17719289</li><li>rs10406069</li>	2
P20309	1131	<ul><li>V->I at 65: in dbSNP:rs2067481<li>L->P at 431: in dbSNP:rs16839102</ul>									<li>rs16839102</li><li>rs2067481</li>	2
P20333	7133	<ul><li>V->M at 187: in dbSNP:rs2228494<li>M->R at 196: frequent polymorphism; seems to be associated with hyperandrogenism, polycystic ovary syndrome : in dbSNP rsrs1061622<li>E->K at 232: in dbSNP:rs5746026<li>A->T at 236: in dbSNP:rs5746027<li>L->P at 264: in dbSNP:rs2229700<li>T->P at 269: in dbSNP:rs17879042<li>Q->R at 295: in dbSNP:rs5746032<li>P->R at 301: in dbSNP:rs17883432</ul>									<li>rs5746032</li><li>rs1061622</li><li>rs5746027</li><li>rs5746026</li><li>rs17883432</li><li>rs2229700</li><li>rs2228494</li><li>rs17879042</li>	2
P20396	7200	<ul><li>L->V at 8: in dbSNP:rs5658</ul>									rs5658	2
P20585	4437	<ul><li>Missing at 57-65<li>A->AAAA at 62<li>I->V at 79: in dbSNP:rs1650697<li>F->L at 709: in dbSNP:rs1805354<li>Y->F at 789: in dbSNP:rs10067975<li>R->Q at 949: in dbSNP:rs184967<li>A->T at 1045: in dbSNP:rs26279<li>T->A at 1054: in dbSNP:rs1805131</ul>									<li>rs1805354</li><li>rs1650697</li><li>rs26279</li><li>rs10067975</li><li>rs184967</li><li>rs1805131</li>	2
P20591	4599	<ul><li>A->V at 381: in dbSNP:rs34717738<li>Q->H at 611: in dbSNP:rs2230454</ul>									<li>rs2230454</li><li>rs34717738</li>	2
P20594	4882	<ul><li>P->T at 32: in AMDM; dbSNP:rs28931581, MIM: 602875<li>W->G at 115: in AMDM; markedly deficient activity; dbSNP:rs28931582, MIM: 602875<li>D->E at 176: in AMDM; dbSNP:rs28929479, MIM: 602875<li>M->I at 232: in dbSNP rsrs55747238, MIM: 602875<li>T->M at 297: in AMDM; markedly deficient activity, MIM: 602875<li>Y->C at 338: in AMDM, MIM: 602875<li>A->T at 409: in AMDM, MIM: 602875<li>G->E at 413: in AMDM; markedly deficient activity, MIM: 602875<li>Y->C at 708: in AMDM, MIM: 602875<li>Q->E at 771: in dbSNP:rs5816, MIM: 602875<li>R->W at 776: in AMDM, MIM: 602875<li>V->I at 882: in dbSNP rsrs55700371, MIM: 602875<li>R->C at 957: in AMDM, MIM: 602875<li>G->A at 959: in AMDM, MIM: 602875</ul>								Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	<li>rs28929479</li><li>rs5816</li><li>rs55747238</li><li>rs55700371</li><li>rs28931582</li><li>rs28931581</li>	2
P20618	5689	<ul><li>P->A at 11: in dbSNP:rs12717<li>I->N at 208: in dbSNP:rs10541</ul>									<li>rs10541</li><li>rs12717</li>	2
P20648	495	<ul><li>V->A at 265: in dbSNP:rs2733743</ul>									rs2733743	2
P20700	4001	<ul><li>A->V at 501: in dbSNP:rs36105360</ul>									rs36105360	2
P20701	3683	<ul><li>R->H at 144: in dbSNP:rs34166708<li>R->W at 214: in dbSNP:rs1064524<li>Q->K at 746: in dbSNP:rs34838942<li>R->T at 791: in dbSNP:rs2230433</ul>									<li>rs2230433</li><li>rs1064524</li><li>rs34838942</li><li>rs34166708</li>	2
P20702	3687	<ul><li>W->R at 48: in dbSNP:rs2230424<li>F->L at 201: in dbSNP:rs1574566<li>A->T at 251: in dbSNP:rs2230428<li>P->R at 517: in dbSNP:rs2230429<li>E->K at 547: in dbSNP:rs17853815<li>F->L at 971: in dbSNP:rs2230427</ul>									<li>rs1574566</li><li>rs2230424</li><li>rs2230427</li><li>rs2230429</li><li>rs17853815</li><li>rs2230428</li>	2
P20711	1644	<ul><li>V->M at 17: in dbSNP:rs6264<li>P->H at 47: in AADCD, MIM: 608643<li>E->D at 61: in dbSNP:rs11575292, MIM: 608643<li>A->V at 91: in AADCD, MIM: 608643<li>G->S at 102: in AADCD, MIM: 608643<li>S->R at 147: in AADCD, MIM: 608643<li>P->L at 210: in dbSNP:rs6262, MIM: 608643<li>M->V at 217: in dbSNP:rs6263, MIM: 608643<li>M->I at 239: in dbSNP:rs11575377, MIM: 608643<li>M->L at 239: in dbSNP:rs11575376, MIM: 608643<li>S->F at 250: in AADCD, MIM: 608643<li>A->T at 275: in AADCD, MIM: 608643<li>F->L at 309: in AADCD, MIM: 608643<li>R->Q at 347: in AADCD, MIM: 608643<li>L->I at 408: in AADCD, MIM: 608643<li>R->Q at 462: in dbSNP:rs11575542, MIM: 608643</ul>								Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	<li>rs11575377</li><li>rs11575542</li><li>rs11575376</li><li>rs6262</li><li>rs6263</li><li>rs6264</li><li>rs11575292</li>	2
P20718	2999	<ul><li>R->Q at 84: in dbSNP:rs20545</ul>									rs20545	2
P20742		<ul><li>L->V at 379: in dbSNP:rs12230214<li>V->M at 691: in dbSNP:rs3213832<li>V->A at 813: in dbSNP:rs2277413<li>R->H at 1128: in a colorectal cancer sample; somatic mutation<li>I->N at 1443: in dbSNP:rs10842971</ul>									<li>rs12230214</li><li>rs10842971</li><li>rs2277413</li><li>rs3213832</li>	2
P20783	4908	<ul><li>G->E at 76: in dbSNP:rs1805149</ul>									rs1805149	2
P20794	4117	<ul><li>I->V at 189: in dbSNP rsrs56215624<li>R->P at 272: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>D->E at 329: in dbSNP:rs17579447<li>N->S at 384: in dbSNP rsrs55773478<li>P->S at 520: in dbSNP:rs567083<li>F->L at 550: in dbSNP rsrs56217305</ul>									<li>rs56215624</li><li>rs17579447</li><li>rs56217305</li><li>rs55773478</li><li>rs567083</li>	2
P20800	1907	<ul><li>F->L at 131: in dbSNP:rs5798<li>P->L at 168: in dbSNP:rs11572371</ul>									<li>rs11572371</li><li>rs5798</li>	2
P20807	825	<ul><li>V->I at 4: in LGMD2A, MIM: 253600<li>G->E at 21: in dbSNP:rs28364364, MIM: 253600<li>P->L at 26: in LGMD2A, MIM: 253600<li>D->N at 77: in LGMD2A, MIM: 253600<li>S->F at 86: in LGMD2A; severe, MIM: 253600<li>Missing  at 93-100: in LGMD2A, MIM: 253600<li>E->K at 107: in dbSNP:rs1801505, MIM: 253600<li>R->G at 118: in LGMD2A, MIM: 253600<li>C->R at 137: in LGMD2A, MIM: 253600<li>A->G at 160: in dbSNP:rs17592, MIM: 253600<li>I->L at 162: in LGMD2A, MIM: 253600<li>L->Q at 182: in LGMD2A, MIM: 253600<li>P->L at 183: in LGMD2A, MIM: 253600<li>T->M at 184: in LGMD2A; dbSNP:rs35889956, MIM: 253600<li>L->P at 189: in LGMD2A, MIM: 253600<li>Missing  at 200-204: in LGMD2A, MIM: 253600<li>G->S at 214: in LGMD2A, MIM: 253600<li>Missing  at 215-221: in LGMD2A, MIM: 253600<li>S->P at 215: in LGMD2A, MIM: 253600<li>E->K at 217: in LGMD2A, MIM: 253600<li>G->R at 222: in LGMD2A, MIM: 253600<li>E->K at 226: in LGMD2A, MIM: 253600<li>T->I at 232: in LGMD2A, MIM: 253600<li>G->E at 234: in LGMD2A, MIM: 253600<li>A->T at 236: in dbSNP:rs1801449, MIM: 253600<li>Missing  at 254: in LGMD2A, MIM: 253600<li>P->L at 319: in LGMD2A, MIM: 253600<li>H->Q at 334: in LGMD2A, MIM: 253600<li>Y->N at 336: in LGMD2A, MIM: 253600<li>V->G at 354: in LGMD2A, MIM: 253600<li>W->C at 360: in LGMD2A, MIM: 253600<li>R->C at 437: in LGMD2A, MIM: 253600<li>R->W at 440: in LGMD2A, MIM: 253600<li>G->D at 441: in LGMD2A, MIM: 253600<li>G->R at 445: in LGMD2A, MIM: 253600<li>R->C at 448: in LGMD2A, MIM: 253600<li>R->G at 448: in LGMD2A, MIM: 253600<li>R->H at 448: in LGMD2A, MIM: 253600<li>S->G at 479: in LGMD2A, MIM: 253600<li>Q->E at 486: in LGMD2A, MIM: 253600<li>R->Q at 489: in LGMD2A, MIM: 253600<li>R->W at 489: in LGMD2A, MIM: 253600<li>R->Q at 490: in LGMD2A, MIM: 253600<li>R->W at 490: in LGMD2A, MIM: 253600<li>R->W at 493: in LGMD2A, MIM: 253600<li>G->R at 496: in LGMD2A, MIM: 253600<li>I->T at 502: in LGMD2A, MIM: 253600<li>R->Q at 541: in LGMD2A, MIM: 253600<li>G->W at 567: in LGMD2A, MIM: 253600<li>R->Q at 572: in LGMD2A, MIM: 253600<li>R->W at 572: in LGMD2A, MIM: 253600<li>S->L at 606: in LGMD2A, MIM: 253600<li>E->A at 622: in dbSNP:rs11557723, MIM: 253600<li>Q->P at 638: in LGMD2A, MIM: 253600<li>R->P at 698: in LGMD2A, MIM: 253600<li>A->V at 702: in LGMD2A, MIM: 253600<li>D->G at 705: in LGMD2A, MIM: 253600<li>D->H at 705: in LGMD2A, MIM: 253600<li>F->S at 731: in LGMD2A, MIM: 253600<li>S->G at 744: in LGMD2A, MIM: 253600<li>R->Q at 748: in LGMD2A, MIM: 253600<li>R->Q at 769: in LGMD2A, MIM: 253600<li>H->D at 774: in LGMD2A; could be a rare polymorphism, MIM: 253600<li>A->E at 798: in LGMD2A; could be a rare polymorphism, MIM: 253600</ul>								Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	<li>rs35889956</li><li>rs28364364</li><li>rs1801449</li><li>rs17592</li><li>rs1801505</li><li>rs11557723</li>	2
P20809	3589	<ul><li>V->M at 108: in dbSNP:rs4252576<li>R->H at 112: in dbSNP:rs4252548</ul>									<li>rs4252576</li><li>rs4252548</li>	2
P20810	831	<ul><li>E->K at 380: in dbSNP:rs1643702<li>C->S at 408: in dbSNP:rs754615<li>A->V at 537: in dbSNP:rs4948<li>E->G at 592</ul>									<li>rs754615</li><li>rs1643702</li><li>rs4948</li>	2
P20813	1555	<ul><li>Q->L at 21: in allele CYP2B6*10; dbSNP:rs34883432<li>R->C at 22: in allele CYP2B6*2 and allele CYP2B6*10; dbSNP:rs8192709<li>T->S at 26: in dbSNP rsrs33973337<li>D->G at 28: in dbSNP rsrs33980385<li>R->P at 29: in dbSNP:rs34284776<li>R->S at 29: in dbSNP rsrs33926104<li>M->V at 46: in allele CYP2B6*11; dbSNP:rs35303484<li>G->E at 99: in allele CYP2B6*12: in dbSNP rsrs36060847<li>K->E at 139: in allele CYP2B6*8 and allele CYP2B6*13: in dbSNP rsrs12721655<li>R->Q at 140: in allele CYP2B6*14: in dbSNP rsrs35773040<li>P->A at 167: in dbSNP:rs3826711<li>Q->H at 172: in allele CYP2B6*6, allele CYP2B6*7, allele CYP2B6*9 and allele CYP2B6*13; dbSNP:rs3745274<li>S->R at 259: in allele CYP2B6*3: in dbSNP rsrs45482602<li>K->R at 262: in allele CYP2B6*4, allele CYP2B6*6, allele CYP2B6*7 and allele CYP2B6*13; slight decrease in activity; dbSNP:rs2279343<li>N->K at 289: in dbSNP rsrs34277950<li>T->S at 306: in dbSNP rsrs34698757<li>I->T at 328: in dbSNP:rs28399499<li>I->N at 391: in allele CYP2B6*15; dbSNP:rs35979566<li>R->C at 487: in allele CYP2B6*5 and allele CYP2B6*7; dbSNP:rs3211371</ul>							P20813		<li>rs36060847</li><li>rs3826711</li><li>rs34284776</li><li>rs34277950</li><li>rs34883432</li><li>rs35979566</li><li>rs33973337</li><li>rs35303484</li><li>rs3211371</li><li>rs33980385</li><li>rs34698757</li><li>rs8192709</li><li>rs3745274</li><li>rs12721655</li><li>rs28399499</li><li>rs45482602</li><li>rs35773040</li><li>rs2279343</li><li>rs33926104</li>	2
P20815	1577	<ul><li>R->C at 28: in allele CYP3A5*8; dbSNP:rs55817950<li>H->Y at 30: in dbSNP:rs28383468<li>Q->R at 200: in allele CYP3A5*4; dbSNP:rs56411402<li>D->E at 277: in dbSNP:rs28383477<li>A->T at 337: in allele CYP3A5*9; dbSNP:rs28383479<li>I->V at 371: in dbSNP:rs28365092<li>T->N at 398: in allele CYP3A5*2; dbSNP:rs28365083<li>F->S at 446: in dbSNP:rs41279854<li>I->T at 488: in dbSNP:rs28365085</ul>							P20815		<li>rs28383479</li><li>rs28383477</li><li>rs28383468</li><li>rs28365083</li><li>rs55817950</li><li>rs28365085</li><li>rs28365092</li><li>rs41279854</li><li>rs56411402</li>	2
P20823	6927	<ul><li>L->H at 12: in MODY3, MIM: 600496<li>G->R at 20: in MODY3, MIM: 600496<li>I->L at 27: in dbSNP:rs1169288, MIM: 600496<li>G->D at 31: in MODY3, MIM: 600496<li>E->K at 48: in IDDM, MIM: 222100<li>A->V at 98: in dbSNP:rs1800574, MIM: 222100<li>L->R at 107: in MODY3, MIM: 600496<li>K->E at 117: in MODY3, MIM: 600496<li>Y->C at 122: in MODY3, MIM: 600496<li>N->Y at 127: in a hepatocellular carcinoma sample; somatic mutation, MIM: 600496<li>I->N at 128: in MODY3, MIM: 600496<li>P->T at 129: in MODY3, MIM: 600496<li>R->Q at 131: in MODY3, MIM: 600496<li>R->W at 131: in MODY3, MIM: 600496<li>V->M at 133: in MODY3, MIM: 600496<li>S->F at 142: in MODY3, MIM: 600496<li>H->Y at 143: in MODY3, MIM: 600496<li>K->N at 158: in MODY3, MIM: 600496<li>R->Q at 159: in MODY3, MIM: 600496<li>R->W at 159: in MODY3, MIM: 600496<li>A->T at 161: in MODY3, MIM: 600496<li>W->C at 165: in a hepatocellular carcinoma sample; somatic mutation, MIM: 600496<li>G->D at 191: in late-onset NIDDM, MIM: 600496<li>R->W at 200: in MODY3, MIM: 600496<li>R->C at 203: in MODY3, MIM: 600496<li>R->H at 203: in MODY3, MIM: 600496<li>K->Q at 205: in MODY3, MIM: 600496<li>W->C at 206: in a hepatic adenoma sample; somatic mutation, MIM: 600496<li>W->L at 206: in a hepatic adenoma sample; somatic mutation, MIM: 600496<li>R->Q at 229: in MODY3, MIM: 600496<li>N->S at 237: in a hepatic multiple adenoma sample; somatic mutation, MIM: 600496<li>C->G at 241: in MODY3 and IDDM, MIM: 600496<li>R->G at 244: in a hepatic adenoma sample; somatic mutation, MIM: 600496<li>Q->P at 250: in a hepatocellular carcinoma sample; somatic mutation, MIM: 600496<li>L->M at 254: in late-onset NIDDM; low penetrance; could be a rare polymorphism, MIM: 600496<li>V->D at 259: in MODY3, MIM: 600496<li>T->M at 260: in MODY3, MIM: 600496<li>R->C at 263: in MODY3, MIM: 600496<li>F->C at 268: in a hepatic adenoma sample; somatic mutation, MIM: 600496<li>R->W at 271: in MODY3, MIM: 600496<li>R->C at 272: in NIDDM, MIM: 600496<li>R->H at 272: in IDDM and MODY3, MIM: 600496<li>K->E at 273: in a hepatic adenoma sample; somatic mutation, MIM: 600496<li>G->S at 319: strong association with NIDDM susceptibility; unique to the Canadian Oji-Cree population, MIM: 600496<li>G->R at 415: in IDDM; loss of function, MIM: 222100<li>S->C at 432: in MODY3, MIM: 600496<li>P->L at 447: in MODY3, MIM: 600496<li>S->N at 487: in dbSNP:rs2464196, MIM: 600496<li>H->R at 514, MIM: 600496<li>P->L at 519: in MODY3, MIM: 600496<li>T->R at 537: in MODY3; incomplete penetrance, MIM: 600496<li>G->S at 574: in a black African with an atypical form of diabetes; also in an individual with hepatic adenoma and familial early-onset diabetes; dbSNP:rs1169305, MIM: 600496<li>R->G at 583: in IDDM, MIM: 222100<li>R->Q at 583: in late-onset NIDDM; also in an individual with hepatic hyperplasia and familial early-onset diabetes, MIM: 222100<li>S->I at 594: in MODY3, MIM: 600496<li>I->M at 618: in MODY3, MIM: 600496<li>E->K at 619: in MODY3, MIM: 600496<li>T->I at 620: in MODY3; incomplete penetrance, MIM: 600496</ul>								<li>Insulin-dependent diabetes mellitus (IDDM) [MIM:222100]</li><li>Maturity onset diabetes of the young type 3 (MODY3) [MIM:600496]</li>	<li>rs2464196</li><li>rs1169288</li><li>rs1169305</li><li>rs1800574</li>	2
P20827	1942	<ul><li>D->V at 159: in dbSNP:rs4745</ul>									rs4745	2
P20839	3614	<ul><li>R->P at 224: in RP10, MIM: 180105<li>D->N at 226: in RP10, MIM: 180105<li>V->I at 268: in RP10, MIM: 180105</ul>							<li>Q39290</li><li>Q9SYA6</li>	Retinitis pigmentosa type 10 (RP10) [MIM:180105]		2
P20849	1297	<ul><li>S->P at 339: in dbSNP rsrs592121<li>Q->R at 621: in dbSNP rsrs1135056<li>K->R at 870: in dbSNP:rs1056921<li>L->V at 882: in dbSNP:rs1056923</ul>									<li>rs1056921</li><li>rs1135056</li><li>rs592121</li><li>rs1056923</li>	2
P20851	725	<ul><li>K->Q at 102: in dbSNP rsrs56258224<li>P->S at 198: in dbSNP:rs1803226</ul>									<li>rs1803226</li><li>rs56258224</li>	2
P20853	1549	<ul><li>F->I at 61: in dbSNP:rs10425176<li>C->R at 64: in dbSNP:rs10425169<li>H->R at 274: in dbSNP:rs4079366<li>A->G at 301: in dbSNP:rs2545754<li>R->C at 311: in dbSNP:rs3869579<li>M->T at 368: in dbSNP:rs2261144</ul>									<li>rs10425169</li><li>rs2545754</li><li>rs2261144</li><li>rs4079366</li><li>rs10425176</li><li>rs3869579</li>	2
P20908	1289	<ul><li>G->S at 530: in EDS1, MIM: 130000<li>G->D at 1489: in EDS1, MIM: 130000<li>C->S at 1639: in EDS1, MIM: 130000</ul>								Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]		2
P20929		<ul><li>T->A at 146: in dbSNP:rs4077109<li>E->Q at 191: in dbSNP:rs35686968<li>K->N at 1027: in dbSNP:rs6735208<li>Y->H at 1301: in dbSNP:rs6711382<li>E->D at 1469: in dbSNP:rs34800215<li>V->I at 1479: in dbSNP:rs34577613<li>V->M at 1491: in dbSNP:rs7426114<li>Y->H at 1969: in dbSNP:rs34532796<li>K->N at 2613: in dbSNP:rs13013209<li>R->Q at 2773: in dbSNP:rs35974308<li>S->P at 2912: in dbSNP:rs6713162<li>V->G at 2952: in dbSNP:rs13024542<li>W->C at 3360: in dbSNP:rs10172023<li>S->T at 3887: in dbSNP:rs35227368<li>P->L at 4271: in dbSNP:rs4327235<li>N->S at 4337: in dbSNP:rs16830236<li>R->T at 4401: in dbSNP:rs2288210<li>D->V at 5030: in dbSNP:rs2288200<li>R->P at 5463: in dbSNP:rs16830171<li>G->E at 5934: in dbSNP:rs3732309</ul>									<li>rs35227368</li><li>rs6711382</li><li>rs6713162</li><li>rs16830171</li><li>rs10172023</li><li>rs34532796</li><li>rs34577613</li><li>rs3732309</li><li>rs13024542</li><li>rs16830236</li><li>rs35686968</li><li>rs6735208</li><li>rs7426114</li><li>rs2288200</li><li>rs2288210</li><li>rs4327235</li><li>rs34800215</li><li>rs13013209</li><li>rs4077109</li><li>rs35974308</li>	2
P20930	2312	<ul><li>S->L at 1184: in dbSNP:rs3120649<li>R->G at 1376: in dbSNP:rs11581433<li>R->C at 1437: in dbSNP:rs12750571<li>A->V at 1805: in dbSNP:rs12405241<li>H->Q at 1961: in dbSNP:rs3126079<li>I->T at 2022: in dbSNP:rs3120655<li>H->Q at 2507: in dbSNP:rs3126074<li>R->Q at 2540: in dbSNP:rs12407748<li>D->Y at 2781: in dbSNP:rs2065958<li>S->F at 3371: in dbSNP:rs3120647<li>S->P at 3396: in dbSNP:rs11584340<li>H->Y at 3415: in dbSNP:rs7512553<li>S->Y at 3427: in dbSNP:rs11204978<li>G->A at 3436: in dbSNP:rs2065955<li>H->Q at 3437: in dbSNP:rs12073613<li>R->C at 3490: in dbSNP:rs2184953<li>Q->R at 3512: in dbSNP:rs12407748<li>D->N at 3584: in dbSNP:rs3814300<li>S->F at 3695: in dbSNP:rs3120647<li>T->A at 3696: in dbSNP:rs2011331<li>S->P at 3720: in dbSNP:rs11584340<li>H->Y at 3739: in dbSNP:rs7512553<li>S->Y at 3751: in dbSNP:rs11204978<li>G->A at 3760: in dbSNP:rs2065955<li>H->Q at 3761: in dbSNP:rs12073613<li>R->C at 3814: in dbSNP:rs2184953<li>G->W at 3827: in dbSNP:rs12728908<li>D->N at 3908: in dbSNP:rs3814300<li>S->P at 3935: in dbSNP:rs3126065<li>S->L at 3970: in dbSNP:rs3814299</ul>									<li>rs12073613</li><li>rs2065955</li><li>rs3814300</li><li>rs11204978</li><li>rs11581433</li><li>rs2065958</li><li>rs2011331</li><li>rs3814299</li><li>rs11584340</li><li>rs2184953</li><li>rs12407748</li><li>rs3126065</li><li>rs12750571</li><li>rs3126074</li><li>rs3126079</li><li>rs3120647</li><li>rs3120649</li><li>rs3120655</li><li>rs7512553</li><li>rs12405241</li><li>rs12728908</li>	2
P20933	175	<ul><li>V->L at 12: in AGU; could be a polymorphism, MIM: 208400<li>G->D at 60: in AGU; German, MIM: 208400<li>S->P at 72: in AGU; Arab. Specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum, MIM: 208400<li>G->E at 100: in AGU; Canadian, MIM: 208400<li>A->V at 101: in AGU; Italian, MIM: 208400<li>F->S at 135: in AGU; Canadian, MIM: 208400<li>S->T at 149: in dbSNP:rs2228119, MIM: 208400<li>R->Q at 161: in AGU; Finnish, MIM: 208400<li>C->S at 163: in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles, MIM: 208400<li>G->E at 252: in AGU; Finnish, MIM: 208400<li>G->R at 252: in AGU; Italian, MIM: 208400<li>T->I at 257: in AGU; Finnish, MIM: 208400<li>G->R at 302: in AGU; Turkish, MIM: 208400<li>C->R at 306: in AGU; American white, MIM: 208400</ul>					endoplasmic reticulum	GO:0005783	<li>Q4R6C4</li><li>Q64191</li><li>P30918</li><li>Q21697</li><li>P20933</li><li>O02467</li><li>Q47898</li><li>P30919</li><li>P83451</li>	Aspartylglucosaminuria (AGU) [MIM:208400]	rs2228119	2
P20936	5921	<ul><li>R->L at 398: in basal cell carcinomas<li>K->E at 400: in basal cell carcinomas<li>I->V at 401: in basal cell carcinomas<li>C->Y at 540: in CMAVM, MIM: 608354</ul>								Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]		2
P21108	221823	<ul><li>E->D at 279: in dbSNP:rs3800962</ul>									rs3800962	2
P21127	984	<ul><li>R->C at 57: in dbSNP rsrs17424353<li>R->W at 201<li>S->L at 414<li>V->A at 452<li>I->V at 463<li>G->S at 506<li>L->Q at 601<li>K->N at 641<li>A->V at 670</ul>									rs17424353	2
P21128	8909	<ul><li>E->Q at 31: in dbSNP:rs6504<li>E->V at 31: in dbSNP:rs6505</ul>									<li>rs6504</li><li>rs6505</li>	2
P21217	2525	<ul><li>G->S at 5: in dbSNP:rs28362458<li>L->R at 20: in Le: in dbSNP rsrs28362459<li>W->R at 68: in Le: in dbSNP rsrs812936<li>Q->K at 102: in Le: in dbSNP rsrs59796499<li>T->M at 105: in Le: in dbSNP rsrs778986<li>S->A at 124: in Le<li>R->C at 160: in dbSNP:rs28362462<li>D->N at 162: in Le: in dbSNP rsrs28362463<li>G->S at 170: in Le: in dbSNP rsrs28362464<li>G->R at 223: in Le<li>V->M at 270: in Le<li>T->M at 325: in dbSNP:rs28381969<li>R->Q at 327: in dbSNP:rs28381970<li>D->A at 336: in Le<li>I->K at 356: in Le: in dbSNP rsrs3894326</ul>									<li>rs28381969</li><li>rs3894326</li><li>rs778986</li><li>rs28362459</li><li>rs812936</li><li>rs28381970</li><li>rs28362458</li><li>rs28362464</li><li>rs59796499</li><li>rs28362462</li><li>rs28362463</li>	2
P21266	2947	<ul><li>V->I at 224: in dbSNP:rs7483</ul>									rs7483	2
P21291	1465	<ul><li>K->I at 108: in dbSNP:rs3738283</ul>									rs3738283	2
P21333	2316	<ul><li>A->G at 39: in PVNH4, MIM: 300537<li>E->V at 82: in PVNH1; dbSNP:rs28935169, MIM: 300049<li>M->V at 102: in PVNH1, MIM: 300049<li>A->V at 128: in PVNH4, MIM: 300537<li>S->F at 149: in PVNH1, MIM: 300049<li>Q->P at 170: in OPD2, MIM: 304120<li>L->F at 172: in OPD1, MIM: 311300<li>R->G at 196: in OPD2, MIM: 304120<li>R->W at 196: in OPD1, MIM: 311300<li>A->S at 200: in OPD2, MIM: 304120<li>D->Y at 203: in OPD1, MIM: 311300<li>P->L at 207: in OPD1; dbSNP:rs28935469, MIM: 311300<li>E->K at 254: in OPD2; dbSNP:rs28935470, MIM: 304120<li>A->P at 273: in OPD2, MIM: 304120<li>V->A at 320: in dbSNP:rs1064816, MIM: 304120<li>F->L at 370: in dbSNP:rs1064817, MIM: 304120<li>V->M at 528: in PVNH1, MIM: 300049<li>V->A at 552: in dbSNP:rs730319, MIM: 300049<li>T->K at 555: in OPD2, MIM: 304120<li>L->F at 656: in PVNH1, MIM: 300049<li>S->L at 1012: in dbSNP:rs17091204, MIM: 300049<li>D->A at 1159: in FMD; dbSNP:rs28935471, MIM: 305620<li>D->E at 1184: in MNS, MIM: 309350<li>S->L at 1186: in FMD, MIM: 305620<li>A->T at 1188: in MNS; dbSNP:rs28935472, MIM: 309350<li>S->L at 1199: in MNS; dbSNP:rs28935473, MIM: 309350<li>A->G at 1419: in dbSNP:rs35504556, MIM: 309350<li>Missing  at 1620: in FMD, MIM: 309350<li>Missing  at 1635-1637: in otopalatodigital spectrum disorder, MIM: 309350<li>C->F at 1645: in OPD2, MIM: 304120<li>G->C at 1728: in FMD, MIM: 305620<li>A->T at 1764: in PVNH1, MIM: 300049</ul>								<li>Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]</li><li>Melnick-Needles syndrome (MNS) [MIM:309350]</li><li>Frontometaphyseal dysplasia (FMD) [MIM:305620]</li><li>Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]</li><li>Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]</li><li>Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]</li>	<li>rs730319</li><li>rs35504556</li><li>rs17091204</li><li>rs28935469</li><li>rs1064816</li><li>rs28935473</li><li>rs28935472</li><li>rs28935471</li><li>rs28935470</li><li>rs1064817</li><li>rs28935169</li>	2
P21359	4763	<ul><li>H->R at 31: in NF1, MIM: 162200<li>A->D at 74: in mismatch repair deficient cancer cells, MIM: 162200<li>Y->C at 80, MIM: 162200<li>Y->S at 80: in dbSNP:rs4795581, MIM: 162200<li>S->F at 82: in NF1, MIM: 162200<li>C->Y at 93: in NF1, MIM: 162200<li>I->S at 117: in NF1, MIM: 162200<li>L->P at 145: in NF1, MIM: 162200<li>I->N at 157: in NF1, MIM: 162200<li>D->E at 176: in mismatch repair deficient cancer cells; polymorphism, MIM: 162200<li>D->V at 186: in NF1; reduced splicing enhancement, MIM: 162200<li>L->R at 194: in NFNS, MIM: 601321<li>L->P at 216: in NF1, MIM: 162200<li>C->R at 324: in NF1, MIM: 162200<li>E->V at 337: in NF1, MIM: 162200<li>D->G at 338: in NF1, MIM: 162200<li>L->P at 357: in NF1, MIM: 162200<li>Y->C at 489: in NF1, MIM: 162200<li>Y->C at 491: in NF1, MIM: 162200<li>L->P at 508: in NF1, MIM: 162200<li>L->P at 532: in NF1, MIM: 162200<li>L->P at 549: in NF1, MIM: 162200<li>S->R at 574: in NF1, MIM: 162200<li>L->R at 578: in NF1, MIM: 162200<li>I->T at 581: in NF1, MIM: 162200<li>K->R at 583: in NF1, MIM: 162200<li>L->V at 604: in NF1, MIM: 162200<li>G->R at 629: in NF1, MIM: 162200<li>S->F at 665: in NF1; unknown pathological significance, MIM: 162200<li>P->L at 678: in dbSNP:rs17881753, MIM: 162200<li>L->P at 695: in NF1, MIM: 162200<li>H->R at 712: in mismatch repair deficient cancer cells, MIM: 162200<li>L->P at 763: in NF1, MIM: 162200<li>R->H at 765, MIM: 162200<li>W->S at 777: in NF1, MIM: 162200<li>T->K at 780: in NF1, MIM: 162200<li>H->P at 781: in NF1, MIM: 162200<li>W->C at 784: in NF1, MIM: 162200<li>W->R at 784: in NF1, MIM: 162200<li>L->F at 844: in NF1, MIM: 162200<li>L->P at 844: in NF1, MIM: 162200<li>L->R at 844: in NF1; sporadic, MIM: 162200<li>L->P at 847: in NF1, MIM: 162200<li>G->E at 848: in NF1, MIM: 162200<li>R->C at 873: in NF1, MIM: 162200<li>L->P at 898: in NF1; sporadic, MIM: 162200<li>L->P at 920: in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1, MIM: 162200<li>M->R at 968: in NF1, MIM: 162200<li>Missing  at 991: in NF1, MIM: 162200<li>M->R at 1035: in NF1, MIM: 162200<li>M->V at 1073: in NF1, MIM: 162200<li>L->P at 1147: in NF1, MIM: 162200<li>N->S at 1156: in NF1, MIM: 162200<li>G->D at 1166: in NF1, MIM: 162200<li>L->I at 1187: in a colorectal cancer sample; somatic mutation, MIM: 162200<li>F->C at 1193: in NF1, MIM: 162200<li>L->R at 1196: in NF1, MIM: 162200<li>R->G at 1204: in NF1, MIM: 162200<li>R->W at 1204: in NF1, MIM: 162200<li>L->P at 1243: in NF1; with neurofibromatous neuropathy, MIM: 162200<li>R->P at 1250: in NF1, MIM: 162200<li>R->G at 1276: in NF1, MIM: 162200<li>R->P at 1276: in NF1; complete loss of GAP activity, MIM: 162200<li>R->Q at 1276: in NF1 and mismatch repair deficient cancer cells, MIM: 162200<li>R->S at 1412: in NF1; significant reduction of GAP activity, MIM: 162200<li>Y->H at 1422: in dbSNP:rs17884349, MIM: 162200<li>K->E at 1430: in NF1, MIM: 162200<li>K->Q at 1440: in NF1, MIM: 162200<li>K->R at 1440: in NF1, MIM: 162200<li>K->E at 1444: in NF1 and NFNS; significant reduction of intrinsic GAP activity, MIM: 162200<li>K->N at 1444: in NF1, MIM: 162200<li>K->R at 1444: in NF1, MIM: 162200<li>L->P at 1446: in NF1, MIM: 162200<li>N->T at 1451: in NFNS, MIM: 601321<li>V->L at 1453: in NFNS, MIM: 601321<li>Missing  at 1459: in NFNS, MIM: 601321<li>S->G at 1489: in NF1, MIM: 162200<li>I->V at 1605: in NF1, MIM: 162200<li>R->W at 1611: in NF1, MIM: 162200<li>L->LGHEQQKLPAAT at 1733: in NF1, MIM: 162200<li>A->S at 1785: in NF1, MIM: 162200<li>P->L at 1951: in a colorectal cancer sample; somatic mutation, MIM: 162200<li>W->R at 1952: in NF1, MIM: 162200<li>L->P at 1953: in NF1, MIM: 162200<li>Missing  at 1953: in NF1, MIM: 162200<li>G->R at 2001: in NF1, MIM: 162200<li>D->N at 2012: in NF1, MIM: 162200<li>L->P at 2088: in spinal NF; null mutation; 50% reduction of protein level; no cafe-au-lait macules, MIM: 162210<li>L->M at 2164: in NF1, MIM: 162200<li>Y->N at 2192: in NF1, MIM: 162200<li>P->A at 2221: in NF1, MIM: 162200<li>E->K at 2357: in NF1, MIM: 162200<li>Missing  at 2387-2388: in NF1, MIM: 162200<li>T->I at 2507: in NF1, MIM: 162200<li>V->L at 2511: in dbSNP rsrs2230850, MIM: 162200<li>T->A at 2631: in NF1, MIM: 162200<li>G->R at 2745: in a breast cancer sample; somatic mutation, MIM: 162200</ul>	mismatch repair	GO:0006298					<li>Q92263</li><li>P20936</li><li>Q92211</li><li>P09851</li><li>Q5PEA9</li><li>P74873</li><li>P21359</li><li>P74851</li><li>P50904</li><li>P35608</li>	<li>Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]</li><li>Familial spinal neurofibromatosis (spinal NF) [MIM:162210]</li><li>Type 1 neurofibromatosis (NF1) [MIM:162200]</li>	<li>rs4795581</li><li>rs17884349</li><li>rs2230850</li><li>rs17881753</li>	2
P21397	4128	<ul><li>D->E at 15: in a breast cancer sample; somatic mutation<li>F->V at 314: in dbSNP:rs1799835<li>K->R at 520: in dbSNP:rs1800466</ul>									<li>rs1800466</li><li>rs1799835</li>	2
P21399	48	<ul><li>A->D at 395: in dbSNP:rs3814519<li>G->R at 486: in dbSNP:rs34630459</ul>									<li>rs34630459</li><li>rs3814519</li>	2
P21439	5244	<ul><li>D->E at 87<li>P->S at 95<li>W->R at 138: in PFIC3, MIM: 602347<li>R->K at 150: in ICP, MIM: 147480<li>F->I at 165: in cholelithiasis, MIM: 600803<li>T->A at 175: in dbSNP rsrs58238559, MIM: 600803<li>L->V at 238: in dbSNP:rs45596335, MIM: 600803<li>I->V at 263: in dbSNP:rs45547936, MIM: 600803<li>M->T at 301: in cholelithiasis, MIM: 600803<li>S->F at 320: in ICP and cholelithiasis, MIM: 147480<li>S->I at 346: in PFIC3, MIM: 602347<li>I->V at 367, MIM: 602347<li>E->G at 395: in PFIC3, MIM: 602347<li>T->A at 424: in PFIC3, MIM: 602347<li>V->M at 425: in PFIC3, MIM: 602347<li>E->G at 450, MIM: 602347<li>E->D at 528: in dbSNP:rs45524431, MIM: 602347<li>G->D at 535: in PFIC3, MIM: 602347<li>I->F at 541: in PFIC3, MIM: 602347<li>A->D at 546: in ICP; disruption of protein trafficking with subsequent lack of functional protein at the cell surface, MIM: 147480<li>L->R at 556: in PFIC3, MIM: 602347<li>D->G at 564: in PFIC3, MIM: 602347<li>R->Q at 590: in dbSNP:rs45575636, MIM: 602347<li>L->Q at 591: in cholelithiasis, MIM: 600803<li>T->N at 651: in dbSNP:rs45476795, MIM: 600803<li>R->G at 652: in dbSNP:rs2230028, MIM: 600803<li>F->S at 711: in PFIC3, MIM: 602347<li>G->S at 742, MIM: 602347<li>G->E at 762: in ICP, MIM: 147480<li>I->L at 764: in a heterozygous patient with risperidone-induced cholestasis, MIM: 147480<li>T->M at 775, MIM: 147480<li>R->Q at 788, MIM: 147480<li>A->T at 934: in cholelithiasis, MIM: 600803<li>G->S at 983: in PFIC3: in dbSNP rsrs56187107, MIM: 602347<li>L->Q at 1082: in a heterozygous patient with amoxicillin/clavulanic acid-induced cholestasis, MIM: 602347<li>Missing  at 1161: in cholelithiasis, MIM: 602347<li>P->S at 1168: in cholelithiasis, MIM: 600803</ul>					cell surface	GO:0009928,GO:0009986	P17237	<li>Cholelithiasis [MIM:600803]</li><li>Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]</li><li>Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]</li>	<li>rs56187107</li><li>rs45524431</li><li>rs45575636</li><li>rs45547936</li><li>rs58238559</li><li>rs2230028</li><li>rs45476795</li><li>rs45596335</li>	2
P21452		<ul><li>I->T at 23: in dbSNP:rs5030920<li>R->H at 375: in dbSNP:rs2229170</ul>									<li>rs2229170</li><li>rs5030920</li>	2
P21453	1901	<ul><li>S->L at 15: in dbSNP:rs4987250<li>A->T at 115: in dbSNP:rs11542632<li>P->R at 332: in dbSNP:rs7549921</ul>									<li>rs11542632</li><li>rs7549921</li><li>rs4987250</li>	2
P21462	2357	<ul><li>L->V at 101: in dbSNP rsrs2070745<li>N->K at 192: in dbSNP rsrs1042229<li>A->E at 346: in dbSNP rsrs867228</ul>									<li>rs1042229</li><li>rs867228</li><li>rs2070745</li>	2
P21506	7556	<ul><li>Q->R at 227: in dbSNP:rs11147259</ul>									rs11147259	2
P21549	189	<ul><li>P->L at 11: common polymorphism; reduction of specific activity in vitro; causes mistargeting when associated with R-170; dbSNP:rs34116584<li>N->S at 22: in dbSNP:rs34885252<li>G->R at 41: in PH1; protein destabilization and loss of activity in the presence of L-11, MIM: 259900<li>G->V at 41: in PH1, MIM: 259900<li>G->E at 82: in PH1; abolishes catalytic activity by interfering with pyridoxal phosphate binding, MIM: 259900<li>E->EE at 95: in PH1, MIM: 259900<li>G->R at 116: in PH1, MIM: 259900<li>F->I at 152: in PH1; protein destabilization and loss of activity in the presence of L-11, MIM: 259900<li>G->R at 156: in PH1, MIM: 259900<li>G->R at 170: in PH1; causes mistargeting when associated with L-11, MIM: 259900<li>D->N at 183: in PH1, MIM: 259900<li>S->F at 187: in PH1, MIM: 259900<li>S->P at 205: in PH1, MIM: 259900<li>R->C at 233: in PH1, MIM: 259900<li>R->H at 233: in PH1, MIM: 259900<li>I->T at 244: in PH1; prevalent mutation in the Canary islands; protein misfolding and loss of activity when associated with P-11, MIM: 259900<li>A->T at 295: in dbSNP:rs13408961, MIM: 259900<li>I->M at 340: common polymorphism; dbSNP:rs4426527, MIM: 259900</ul>			<li>pyridoxal phosphate binding</li><li>catalytic activity</li>	<li>GO:0030170</li><li>GO:0003824</li>			<li>P78364</li><li>Q9ST43</li>	Primary hyperoxaluria type I (PH1) [MIM:259900]	<li>rs34116584</li><li>rs4426527</li><li>rs13408961</li><li>rs34885252</li>	2
P21580	7128	<ul><li>A->V at 125: in dbSNP:rs5029941<li>F->C at 127: in dbSNP:rs2230926<li>A->P at 766: in dbSNP:rs5029957</ul>									<li>rs2230926</li><li>rs5029941</li><li>rs5029957</li>	2
P21583	4254	<ul><li>T->A at 54: in dbSNP:rs3741457<li>F->Y at 232: in dbSNP:rs12721563</ul>									<li>rs3741457</li><li>rs12721563</li>	2
P21589	4907	<ul><li>T->A at 376: in dbSNP:rs2229523<li>M->T at 379: in dbSNP:rs2229524</ul>									<li>rs2229523</li><li>rs2229524</li>	2
P21675	6872	<ul><li>L->V at 269: in dbSNP:rs28382158<li>A->G at 297: in dbSNP rsrs35317750<li>G->D at 453: in a colorectal adenocarcinoma sample; somatic mutation<li>E->K at 651: in a metastatic melanoma sample; somatic mutation<li>M->I at 691: in a lung bronchoalveolar carcinoma sample; somatic mutation<li>V->I at 1383: in dbSNP:rs7050748</ul>									<li>rs35317750</li><li>rs7050748</li><li>rs28382158</li>	2
P21695	2819	<ul><li>I->V at 54: in dbSNP:rs2232202<li>A->P at 113: in dbSNP:rs1128867<li>V->A at 197: in dbSNP:rs2232207</ul>									<li>rs2232207</li><li>rs2232202</li><li>rs1128867</li>	2
P21709	2041	<ul><li>A->V at 160: in dbSNP:rs4725617<li>R->C at 351: in dbSNP rsrs56006153<li>R->Q at 492: in dbSNP:rs11768549<li>R->Q at 575: in dbSNP rsrs35719334<li>A->T at 585: in dbSNP rsrs34178823<li>P->L at 697: in dbSNP rsrs34372369<li>E->K at 703: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>S->R at 807: in dbSNP rsrs56244405<li>V->M at 900: in dbSNP:rs6967117</ul>									<li>rs6967117</li><li>rs34372369</li><li>rs4725617</li><li>rs34178823</li><li>rs35719334</li><li>rs11768549</li><li>rs56244405</li><li>rs56006153</li>	2
P21728	1812	<ul><li>T->P at 37: in dbSNP:rs5327<li>T->R at 37: in dbSNP:rs5328<li>R->S at 50: in dbSNP:rs5330<li>S->A at 199: in dbSNP:rs5331</ul>									<li>rs5330</li><li>rs5331</li><li>rs5328</li><li>rs5327</li>	2
P21730	728	<ul><li>N->D at 2: in dbSNP:rs4467185<li>N->K at 279: in dbSNP:rs11880097</ul>									<li>rs11880097</li><li>rs4467185</li>	2
P21731	6915	<ul><li>R->L at 60: in bleeding disorder; defective interaction with G proteins; impairs phospholipase C and adenylyl cyclase activation; isoform 1. Has no affect on adenylyl cyclase inhibition; isoform 2: in dbSNP rsrs34377097<li>C->S at 68: in dbSNP:rs5743<li>V->E at 80: in dbSNP:rs5744<li>E->V at 94: in dbSNP:rs5746<li>A->T at 160: in dbSNP:rs5749<li>V->E at 176: in dbSNP:rs5750<li>V->I at 217: in dbSNP:rs5751</ul>							<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>Q9WXC3</li><li>Q99279</li><li>P0A1A7</li><li>P0A1A8</li><li>Q05766</li><li>Q57506</li><li>P40134</li><li>Q99280</li><li>P40135</li><li>Q26896</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P40136</li><li>P26338</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>P15318</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q26721</li><li>Q25263</li><li>Q01631</li><li>Q99396</li><li>Q27675</li>		<li>rs5749</li><li>rs5751</li><li>rs5750</li><li>rs34377097</li><li>rs5743</li><li>rs5744</li><li>rs5746</li>	2
P21741	4192	<ul><li>Missing  at 21-22: in 35% of the chains</ul>										2
P21757	4481	<ul><li>F->C at 23: in dbSNP rsrs35175081<li>T->I at 269: in dbSNP:rs13306543<li>P->A at 275: in dbSNP:rs3747531</ul>									<li>rs3747531</li><li>rs13306543</li><li>rs35175081</li>	2
P21781	2252	<ul><li>M->T at 59: in dbSNP:rs34531231</ul>									rs34531231	2
P21802	2263	<ul><li>R->P at 6: in dbSNP:rs3750819<li>S->L at 57: in dbSNP rsrs56226109<li>Y->C at 105: in CS, MIM: 123500<li>A->F at 172: in PS; requires 2 nucleotide substitutions, MIM: 101600<li>M->T at 186: in dbSNP:rs755793, MIM: 101600<li>R->C at 203: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation, MIM: 101600<li>SP->FS at 252-253: in PS, MIM: 101600<li>S->F at 252: in APRS; requires 2 nucleotide substitutions, MIM: 101200<li>S->L at 252: in CS, MIM: 123500<li>S->W at 252: in APRS and PS; common mutation, MIM: 101600<li>P->R at 253: in APRS; common mutation, MIM: 101200<li>P->L at 263: in CS, MIM: 123500<li>S->P at 267: in CS, MIM: 123500<li>T->TG at 268: in CS, MIM: 123500<li>G->V at 272: in an ovarian serous carcinoma sample; somatic mutation, MIM: 123500<li>Missing  at 273: in PS; type 2, MIM: 123500<li>F->V at 276: in CS, MIM: 123500<li>C->F at 278: in CS, JWS and PS, MIM: 101600<li>C->Y at 278: in CS, MIM: 123500<li>Y->C at 281: in CS, MIM: 123500<li>D->N at 283: in a lung squamous cell carcinoma sample; somatic mutation, MIM: 123500<li>Missing  at 287-289: in CS, MIM: 123500<li>I->S at 288: in CS, MIM: 123500<li>Q->P at 289: in CS and JWS, MIM: 123150<li>W->C at 290: in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation, MIM: 101600<li>W->G at 290: in CS, MIM: 123500<li>W->R at 290: in CS, MIM: 123500<li>K->E at 292: in CS, MIM: 123500<li>Y->C at 301: in CS, MIM: 123500<li>A->S at 314: in craniosynostosis, MIM: 123500<li>A->S at 315: in a non-syndromic craniosynostosis patient with abnormal intrauterine history; confers predisposition to craniosynostosis, MIM: 123500<li>D->A at 321: in PS, MIM: 101600<li>Y->C at 328: in CS, MIM: 123500<li>N->I at 331: in CS, MIM: 123500<li>A->ANA at 337: in CS, MIM: 123500<li>A->P at 337: in CS, MIM: 123500<li>G->E at 338: in CS, MIM: 123500<li>G->R at 338: in CS, MIM: 123500<li>Y->C at 340: in PS, MIM: 101600<li>Y->H at 340: in CS, MIM: 123500<li>T->P at 341: in PS and CS, MIM: 101600<li>C->F at 342: in CS, MIM: 123500<li>C->G at 342: in PS, MIM: 101600<li>C->R at 342: in CS, JWS, PS and ABS, MIM: 101600<li>C->S at 342: in CS, JWS, PS and ABS, MIM: 101600<li>C->W at 342: in CS, MIM: 123500<li>C->Y at 342: in CS and PS, MIM: 101600<li>A->G at 344: in CS and JWS, MIM: 123150<li>A->P at 344: in CS and PS, MIM: 101600<li>S->C at 347: in CS, MIM: 123500<li>S->C at 351: in CS, PS and ABS, MIM: 101600<li>S->C at 354: in CS, MIM: 123500<li>S->Y at 354: in CS, MIM: 123500<li>Missing  at 356-358: in CS, MIM: 123500<li>V->F at 359: in CS and PS, MIM: 101600<li>A->S at 362: in CS, MIM: 123500<li>S->C at 372: in Beare-Stevenson cutis gyrata syndrome, MIM: 123790<li>Y->C at 375: in PS and Beare-Stevenson cutis gyrata syndrome, MIM: 101600<li>G->R at 384: in CS, MIM: 123500<li>K->E at 526: in FSPC, MIM: 609579<li>N->H at 549: in CS, MIM: 123500<li>E->G at 565: in PS, MIM: 101600<li>R->T at 612: in a lung adenocarcinoma sample; somatic mutation, MIM: 101600<li>G->R at 613, MIM: 101600<li>A->T at 628: in LADDS, MIM: 149730<li>K->R at 641: in PS, MIM: 101600<li>A->T at 648: in LADDS, MIM: 149730<li>RD->S at 649-650: in LADDS, MIM: 149730<li>K->N at 659: in craniosynostosis, MIM: 149730<li>G->E at 663: in PS, MIM: 101600<li>R->G at 678: in CS, MIM: 123500</ul>							<li>Q8RYD9</li><li>Q9UJV9</li>	<li>Antley-Bixler syndrome (ABS) [MIM:207410]</li><li>Jackson-Weiss syndrome (JWS) [MIM:123150]</li><li>Apert syndrome (APRS) [MIM:101200]</li><li>Crouzon syndrome (CS) [MIM:123500]</li><li>Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]</li><li>Familial scaphocephaly syndrome (FSPC) [MIM:609579]</li><li>Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]</li><li>Pfeiffer syndrome (PS) [MIM:101600]</li>	<li>rs755793</li><li>rs56226109</li><li>rs3750819</li>	2
P21810	633	<ul><li>R->T at 266: in a breast cancer sample; somatic mutation<li>K->N at 288: in a breast cancer sample; somatic mutation</ul>										2
P21817	6261	<ul><li>L->V at 13: in CCD; autosomal recessive form, MIM: 117000<li>C->R at 35: in MHS1, MIM: 145600<li>R->C at 44: in CCD and MHS1, MIM: 145600<li>R->W at 109: in MMDO, MIM: 255320<li>E->G at 160: in CCD, MIM: 117000<li>R->C at 163: in CCD and MHS1; 2-3% of the cases, MIM: 145600<li>R->L at 163: in MHS1; induces an increase sensitivity to caffeine, MIM: 145600<li>G->R at 165: in MHS1, MIM: 145600<li>D->N at 166: in MHS1, MIM: 145600<li>R->C at 177: in MHS1, MIM: 145600<li>Y->C at 178: in MHS1, MIM: 145600<li>G->E at 215: in CCD; autosomal recessive form, MIM: 117000<li>D->V at 227: in MHS1, MIM: 145600<li>G->R at 248: in MHS1; could be a polymorphism; dbSNP:rs1801086, MIM: 145600<li>A->T at 291: in dbSNP:rs2229140, MIM: 145600<li>R->W at 328: in MHS1; has increased sensitivity to both caffeine and halothane, MIM: 145600<li>G->R at 341: in MHS1; 10% of the cases; dbSNP:rs28933997, MIM: 145600<li>R->C at 401: in MHS1, MIM: 145600<li>R->H at 401: in MHS1, MIM: 145600<li>R->S at 401: in MHS1, MIM: 145600<li>I->M at 403: in CCD and MHS1, MIM: 145600<li>R->C at 471, MIM: 145600<li>M->V at 485, MIM: 145600<li>Y->S at 522: in CCD and MHS1, MIM: 145600<li>R->C at 533: in MHS1, MIM: 145600<li>R->H at 533: in MHS1, MIM: 145600<li>R->W at 552: in MHS1, MIM: 145600<li>R->C at 614: in CCD and MHS1; 3-5% of the cases: in dbSNP rsrs28933996, MIM: 145600<li>R->L at 614: in MHS1, MIM: 145600<li>R->K at 1109: in dbSNP:rs35719391, MIM: 145600<li>S->G at 1342: in dbSNP:rs34694816, MIM: 145600<li>S->N at 1489: in dbSNP:rs34404839, MIM: 145600<li>G->S at 1704: in CCD; autosomal recessive form, MIM: 117000<li>P->L at 1787: in dbSNP:rs34934920, MIM: 117000<li>G->A at 1832, MIM: 117000<li>G->C at 2060: in dbSNP:rs35364374, MIM: 117000<li>M->K at 2101, MIM: 117000<li>V->L at 2117: in MHS1, MIM: 145600<li>D->E at 2129: in MHS1, MIM: 145600<li>R->C at 2163: in MHS1: in dbSNP rsrs28933998, MIM: 145600<li>R->H at 2163: in CCD and MHS1: in dbSNP rsrs28933999, MIM: 145600<li>R->P at 2163: in MHS1, MIM: 145600<li>V->M at 2168: in CCD and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type, MIM: 145600<li>T->M at 2206: in MHS1; induces an increase sensitivity to caffeine: in dbSNP rsrs28934000, MIM: 145600<li>T->R at 2206: in MHS1, MIM: 145600<li>V->I at 2214: in MHS1, MIM: 145600<li>V->I at 2280: in MHS1, MIM: 145600<li>N->S at 2342: in MHS1, MIM: 145600<li>E->D at 2344: in MHS1; uncertain pathogenicity, MIM: 145600<li>V->M at 2346: in MHS1, MIM: 145600<li>Missing  at 2347: in MHS1, MIM: 145600<li>E->G at 2348: in MHS1, MIM: 145600<li>A->T at 2350: in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity, MIM: 145600<li>R->C at 2355: in MHS1, MIM: 145600<li>A->T at 2367: in MHS1, MIM: 145600<li>A->P at 2421: in CCD; autosomal recessive form, MIM: 117000<li>M->K at 2423: in MMDO and CCD; autosomal recessive form, MIM: 255320<li>A->T at 2428: in MHS1; induces an increase sensitivity to caffeine, MIM: 145600<li>D->N at 2431: in MHS1, MIM: 145600<li>G->R at 2434: in MHS1, MIM: 145600<li>R->H at 2435: in CCD and MHS1: in dbSNP rsrs28933396, MIM: 145600<li>R->L at 2435: in MHS1, MIM: 145600<li>A->V at 2437: in MHS1, MIM: 145600<li>R->W at 2452: in MHS1, MIM: 145600<li>R->C at 2454: in MHS1; induces an increase sensitivity to caffeine, MIM: 145600<li>R->H at 2454: in CCD and MHS1; severe form; induces an increase sensitivity to caffeine, MIM: 145600<li>R->C at 2458: in MHS1: in dbSNP rsrs28933397, MIM: 145600<li>R->H at 2458: in MHS1, MIM: 145600<li>V->I at 2509: in dbSNP:rs2071088, MIM: 145600<li>R->W at 2676: in MHS1; located on the same allele as S-2787: in dbSNP rsrs28934001, MIM: 145600<li>E->K at 2779: in dbSNP:rs2915952, MIM: 145600<li>T->S at 2787: in MHS1; located on the same allele as W-2676; dbSNP:rs35180584, MIM: 145600<li>A->V at 3118: in dbSNP:rs2915960, MIM: 145600<li>P->S at 3527: in CCD; autosomal recessive form, MIM: 117000<li>R->H at 3539: in CCD; autosomal recessive form, MIM: 117000<li>Q->E at 3756: in dbSNP:rs4802584, MIM: 117000<li>R->Q at 3772: in CCD; autosomal recessive form, MIM: 117000<li>I->M at 3916: in MHS1, MIM: 145600<li>R->S at 4136: in MHS1, MIM: 145600<li>Missing  at 4214-4216: in CCD, MIM: 145600<li>V->L at 4234: in MHS1, MIM: 145600<li>R->Q at 4558: in CCD; autosomal recessive form, MIM: 117000<li>T->A at 4637: in CCD, MIM: 117000<li>T->I at 4637: in core/rod disease, MIM: 117000<li>G->D at 4638: in CCD, MIM: 117000<li>Missing  at 4647-4648: in CCD, MIM: 117000<li>L->P at 4650: in CCD; autosomal recessive form, MIM: 117000<li>H->P at 4651: in CCD, MIM: 117000<li>P->S at 4668, MIM: 117000<li>F->S at 4684: in MHS1, MIM: 145600<li>K->Q at 4724: in CCD; autosomal recessive form, MIM: 117000<li>R->Q at 4737: in MHS1, MIM: 145600<li>R->W at 4737: in MHS1, MIM: 145600<li>L->P at 4793: in CCD, MIM: 117000<li>Y->C at 4796: in CCD, MIM: 117000<li>L->F at 4814: in CCD, MIM: 117000<li>L->P at 4824: in MHS1, MIM: 145600<li>R->C at 4825: in CCD, MIM: 117000<li>T->I at 4826: in MHS1, MIM: 145600<li>L->V at 4838: in MHS1, MIM: 145600<li>V->M at 4842: in CCD; autosomal recessive form, MIM: 117000<li>A->V at 4846: in CCD; autosomal recessive form, MIM: 117000<li>V->I at 4849: in MHS1 and CCD; autosomal recessive form, MIM: 145600<li>Missing  at 4860: in CCD, MIM: 145600<li>R->C at 4861: in CCD, MIM: 117000<li>R->H at 4861: in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene, MIM: 117000<li>FYNKSED->Y at 4863-4869: in CCD, MIM: 117000<li>Y->C at 4864: in CCD, MIM: 117000<li>K->R at 4876: in MHS1, MIM: 145600<li>G->R at 4891: in CCD, MIM: 117000<li>R->Q at 4893: in CCD, MIM: 117000<li>R->W at 4893: in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene, MIM: 117000<li>G->V at 4897: in CCD, MIM: 117000<li>I->T at 4898: in CCD; severe phenotype; also present in some patients with MHS1; no response to the agonists halothane and caffeine, MIM: 117000<li>G->E at 4899: in CCD, MIM: 117000<li>G->R at 4899: in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene, MIM: 117000<li>A->V at 4906: in CCD, MIM: 117000<li>R->G at 4914: in CCD, MIM: 117000<li>R->T at 4914: in CCD, MIM: 117000<li>Missing  at 4927-4928: in CCD, MIM: 117000<li>I->M at 4938: in CCD, MIM: 117000<li>D->E at 4939: in MHS1, MIM: 145600<li>A->T at 4940: in CCD, MIM: 117000<li>G->V at 4942: in MHS1, MIM: 145600<li>P->L at 4973: in MHS1, MIM: 145600</ul>					intracellular	GO:0005622		<li>Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]</li><li>Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]</li><li>Central core disease of muscle (CCD) [MIM:117000]</li>	<li>rs28933996</li><li>rs2915952</li><li>rs28933997</li><li>rs28933998</li><li>rs28933999</li><li>rs1801086</li><li>rs34934920</li><li>rs2915960</li><li>rs35719391</li><li>rs34694816</li><li>rs4802584</li><li>rs35180584</li><li>rs34404839</li><li>rs28933397</li><li>rs2229140</li><li>rs28933396</li><li>rs2071088</li><li>rs28934000</li><li>rs28934001</li><li>rs35364374</li>	2
P21854	971	<ul><li>P->L at 234: in dbSNP:rs34791102</ul>									rs34791102	2
P21860	2065	<ul><li>S->Y at 20: in dbSNP rsrs34379766<li>P->L at 30: in dbSNP rsrs56017157<li>V->M at 104: in an ovarian mucinous carcinoma sample; somatic mutation<li>T->I at 204: in dbSNP rsrs56107455<li>N->S at 385: in dbSNP:rs12320176<li>R->W at 683: in dbSNP rsrs56387488<li>S->L at 717: in dbSNP rsrs35961836<li>I->T at 744: in dbSNP rsrs55787439<li>K->R at 998: in dbSNP rsrs56259600<li>S->C at 1119: in dbSNP:rs773123<li>R->H at 1127: in dbSNP:rs2271188<li>L->I at 1177: in dbSNP rsrs55699040<li>T->K at 1254: in dbSNP rsrs55709407<li>G->S at 1271: in dbSNP:rs11171743</ul>									<li>rs55709407</li><li>rs56107455</li><li>rs55699040</li><li>rs34379766</li><li>rs56017157</li><li>rs35961836</li><li>rs56387488</li><li>rs55787439</li><li>rs11171743</li><li>rs12320176</li><li>rs2271188</li><li>rs56259600</li><li>rs773123</li>	2
P21912	6390	<ul><li>A->G at 3: found in an individual with features of Cowden-like syndrome and absence of PTEN mutations; associated with increased manganese superoxide dismutase expression; associated with normal reactive oxygen species; associated with a 1.2-fold increase in AKT expression and 1.3-fold change in MAPK expression; dbSNP:rs11203289<li>A->AQ at 29: in pheochromocytoma<li>K->E at 40<li>A->P at 43: in pheochromocytoma, MIM: 171300<li>R->G at 46: in pheochromocytoma, MIM: 171300<li>R->Q at 46: in pheochromocytoma and PLG4, MIM: 171300<li>G->R at 53: in pheochromocytoma, MIM: 171300<li>L->H at 65: in pheochromocytoma, MIM: 171300<li>L->P at 65: in pheochromocytoma, MIM: 171300<li>L->S at 87: in pheochromocytoma, MIM: 171300<li>S->F at 100: in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function, MIM: 171300<li>C->Y at 101: in pheochromocytoma, MIM: 171300<li>I->N at 127: in pheochromocytoma, MIM: 171300<li>P->R at 131: in PGL4, MIM: 171300<li>H->P at 132: in PLG4, MIM: 115310<li>S->P at 163: found in two individuals with features of Cowden-like syndrome and absence of PTEN mutations; associated with increased manganese superoxide dismutase function; associated with increased reactive oxygen species; associated with a 2.7-fold change in AKT expression and a 1.7-fold increase in MAPK expression; dbSNP:rs33927012, MIM: 115310<li>C->R at 192: in pheochromocytoma, MIM: 171300<li>C->Y at 196: in pheochromocytoma, MIM: 171300<li>P->R at 197: in PLG4, MIM: 115310<li>R->C at 230: in pheochromocytoma, MIM: 171300<li>R->H at 242: in familial malignant paraganglioma and pheochromocytoma, pheochromocytoma and PLG4, MIM: 171300</ul>							<li>O42781</li><li>Q00859</li><li>P21912</li><li>P27638</li><li>P48932</li><li>P48933</li><li>P80480</li><li>P60483</li><li>P21801</li><li>P60484</li><li>O50258</li><li>Q3T189</li><li>P80477</li>	<li>Hereditary paragangliomas type 4 (PLG4) [MIM:115310]</li><li>Pheochromocytoma [MIM:171300]</li>	<li>rs33927012</li><li>rs11203289</li>	2
P21917	1815	<ul><li>V->G at 194: in Afro-Caribbeans; dbSNP:rs1800443<li>Missing  at 265-344: in allele D4.2<li>Missing  at 281-328: in allele D4.4<li>P->A at 329: in allele D4.4<li>G->S at 332: in allele D4.4</ul>									rs1800443	2
P21918	1816	<ul><li>C->S at 62: in dbSNP:rs2227840<li>L->R at 88: in dbSNP:rs6282<li>G->E at 110: in dbSNP:rs2227849<li>F->V at 207: in dbSNP:rs2227845<li>S->N at 233: in dbSNP:rs2227843<li>V->I at 238: in dbSNP:rs2227852<li>R->H at 247: in dbSNP:rs2227847<li>A->V at 269: in dbSNP:rs2227842<li>A->V at 286: in dbSNP:rs2227850<li>P->Q at 330: in dbSNP:rs1800762<li>N->D at 351<li>S->C at 453</ul>									<li>rs2227845</li><li>rs2227842</li><li>rs2227843</li><li>rs1800762</li><li>rs2227849</li><li>rs2227847</li><li>rs2227850</li><li>rs2227852</li><li>rs6282</li><li>rs2227840</li>	2
P21953	594	<ul><li>T->I at 41: in dbSNP:rs35470366<li>R->P at 183: in MSUD1B; dbSNP:rs28934895, MIM: 248600<li>H->R at 206: in MSUD1B, MIM: 248600<li>G->S at 278: in MSUD1B, MIM: 248600</ul>								Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	<li>rs28934895</li><li>rs35470366</li>	2
P21964	1312	<ul><li>C->S at 34: in dbSNP:rs6270<li>A->S at 72: correlated with reduced enzyme activity; could be a risk allele for schizophrenia; dbSNP:rs6267<li>A->T at 102: in dbSNP:rs5031015<li>A->V at 146: in dbSNP:rs4986871<li>V->M at 158: in allele COMT*2; associated with low enzyme activity and thermolability; may increase the tendency to develop high blood pressure and abdominal obesity; dbSNP:rs4680</ul>							<li>O81646</li><li>Q43239</li><li>P46484</li><li>Q9SWC2</li><li>O23760</li><li>Q8LL87</li><li>P21964</li><li>Q9FQY8</li><li>Q06528</li><li>Q6ZD89</li><li>P28002</li><li>Q8GU25</li><li>Q8W013</li><li>Q06509</li><li>Q99028</li><li>O82054</li><li>Q43609</li>		<li>rs4986871</li><li>rs5031015</li><li>rs6267</li><li>rs4680</li><li>rs6270</li>	2
P21980	7052	<ul><li>R->H at 76: in dbSNP:rs41274720<li>R->H at 214: in dbSNP:rs45530133<li>Q->R at 324: in dbSNP:rs45567334<li>M->R at 330: in early-onset diabetes type 2<li>I->N at 331: in early-onset diabetes type 2<li>R->W at 436: in dbSNP:rs45629036<li>P->S at 536: in dbSNP:rs45556333<li>G->V at 660: in a colorectal cancer sample; somatic mutation</ul>									<li>rs45530133</li><li>rs45567334</li><li>rs45556333</li><li>rs45629036</li><li>rs41274720</li>	2
P22003	653	<ul><li>H->Y at 2: in dbSNP:rs9475437</ul>									rs9475437	2
P22004	654	<ul><li>R->C at 257: in dbSNP:rs10458105<li>A->D at 343: in a colorectal cancer sample; somatic mutation<li>P->L at 476: in a colorectal cancer sample; somatic mutation</ul>									rs10458105	2
P22033	4594	<ul><li>I->V at 69<li>P->L at 86: in MMAM; mut0, MIM: 251000<li>G->E at 87: in MMAM; mut0, MIM: 251000<li>R->H at 93: in MMAM; mut0, MIM: 251000<li>G->R at 94: in MMAM; mut0, MIM: 251000<li>G->V at 94: in MMAM; mut- and mut0, MIM: 251000<li>P->R at 95: in MMAM; mut0, MIM: 251000<li>W->R at 105: in MMAM; mut0, MIM: 251000<li>R->C at 108: in MMAM; mut0, MIM: 251000<li>R->G at 108: in MMAM; mut-, MIM: 251000<li>R->H at 108: in MMAM; mut0, MIM: 251000<li>Q->R at 109: in MMAM; mut0, MIM: 251000<li>A->V at 137: in MMAM; mut0, MIM: 251000<li>G->S at 145: in MMAM; mut0, MIM: 251000<li>S->L at 148: in MMAM, MIM: 251000<li>D->N at 156: in MMAM; mut-, MIM: 251000<li>G->V at 158: in MMAM; mut0, MIM: 251000<li>F->S at 174: in MMAM; mut0, MIM: 251000<li>M->V at 186: in MMAM; mut-, MIM: 251000<li>N->K at 189: in MMAM; mut-, MIM: 251000<li>A->E at 191: in MMAM; mut- and mut0, MIM: 251000<li>A->E at 197: in MMAM; mut0, MIM: 251000<li>G->R at 203: in MMAM; mut0, MIM: 251000<li>G->C at 215: in MMAM; mut- and mut0, MIM: 251000<li>G->S at 215: in MMAM; mut0, MIM: 251000<li>Q->H at 218: in MMAM; mut0, MIM: 251000<li>N->Y at 219: in MMAM; mut0, MIM: 251000<li>R->Q at 228: in MMAM; mut0, MIM: 251000<li>T->I at 230: in MMAM; mut-, MIM: 251000<li>Y->N at 231: in MMAM; mut-, MIM: 251000<li>S->N at 262: in MMAM; mut0, MIM: 251000<li>H->Y at 265: in MMAM; mut-, MIM: 251000<li>L->S at 281: in MMAM; mut0, MIM: 251000<li>G->E at 291: in MMAM; mut0, MIM: 251000<li>Q->P at 293: in MMAM; mut0, MIM: 251000<li>L->S at 305: in MMAM; mut0, MIM: 251000<li>S->F at 306: in MMAM; mut0, MIM: 251000<li>G->V at 312: in MMAM; mut0, MIM: 251000<li>Y->C at 316: in MMAM; mut-, MIM: 251000<li>A->T at 324: in MMAM; mut-, MIM: 251000<li>L->F at 328: in MMAM; mut0, MIM: 251000<li>L->P at 328: in MMAM; mut0, MIM: 251000<li>Missing  at 346: in MMAM; mut0, MIM: 251000<li>L->R at 347: in MMAM; mut0, MIM: 251000<li>H->Y at 350: in MMAM; mut0, MIM: 251000<li>V->D at 368: in MMAM, MIM: 251000<li>R->C at 369: in MMAM; mut0, MIM: 251000<li>R->H at 369: in MMAM; mut- and mut0, MIM: 251000<li>T->P at 370: in MMAM; mut0, MIM: 251000<li>A->E at 377: in MMAM; mut0, MIM: 251000<li>Q->H at 383: in MMAM; mut0, MIM: 251000<li>Q->P at 383: in MMAM; mut0, MIM: 251000<li>H->N at 386: in MMAM; mut0, MIM: 251000<li>N->H at 388: in MMAM; mut0, MIM: 251000<li>Missing  at 389: in MMAM; mut0, MIM: 251000<li>Missing  at 412: in MMAM; mut0, MIM: 251000<li>G->R at 426: in MMAM; mut-, MIM: 251000<li>G->D at 427: in MMAM; mut0, MIM: 251000<li>A->T at 499: in dbSNP:rs2229385, MIM: 251000<li>L->P at 518: in MMAM; mut0, MIM: 251000<li>R->H at 532: in dbSNP:rs1141321, MIM: 251000<li>A->P at 535: in MMAM; mut0, MIM: 251000<li>C->Y at 560: in MMAM; mut0, MIM: 251000<li>T->R at 566: in MMAM; mut0, MIM: 251000<li>F->S at 573: in MMAM; mut-, MIM: 251000<li>Y->C at 587: in MMAM; mut-, MIM: 251000<li>T->A at 598: in dbSNP:rs9473556, MIM: 251000<li>P->R at 615: in MMAM; mut0, MIM: 251000<li>P->T at 615: in MMAM; mut0, MIM: 251000<li>R->C at 616: in MMAM; mut0, MIM: 251000<li>L->R at 617: in MMAM, MIM: 251000<li>K->N at 621: in MMAM; mut0, MIM: 251000<li>G->R at 623: in MMAM; mut0, MIM: 251000<li>Q->R at 624: in MMAM, MIM: 251000<li>G->C at 626: in MMAM; mut-, MIM: 251000<li>H->R at 627: in MMAM; mut0, MIM: 251000<li>G->E at 630: in MMAM; mut0, MIM: 251000<li>V->G at 633: in MMAM; mut-, MIM: 251000<li>G->E at 637: in MMAM; mut-, MIM: 251000<li>G->R at 637: in MMAM; mut0, MIM: 251000<li>F->I at 638: in MMAM; mut0, MIM: 251000<li>D->Y at 640: in MMAM; mut0, MIM: 251000<li>G->R at 642: in MMAM; mut-, MIM: 251000<li>G->D at 648: in MMAM; mut-, MIM: 251000<li>V->E at 669: in MMAM; mut0, MIM: 251000<li>V->I at 671: in dbSNP:rs8589, MIM: 251000<li>H->R at 678: in MMAM; mut-, MIM: 251000<li>E->EL at 684: in MMAM; mut-, MIM: 251000<li>L->R at 685: in MMAM; mut-, MIM: 251000<li>R->W at 694: in MMAM; mut- and mut0, MIM: 251000<li>M->K at 700: in MMAM; mut-, MIM: 251000<li>G->R at 703: in MMAM; mut0, MIM: 251000<li>G->V at 717: in MMAM; mut-; interfers with the binding of the cofactor to the apoenzyme, MIM: 251000</ul>			binding	GO:0005488			P16332	Methylmalonic aciduria type mut (MMAM) [MIM:251000]	<li>rs9473556</li><li>rs2229385</li><li>rs8589</li><li>rs1141321</li>	2
P22059	5007	<ul><li>D->A at 278: in a colorectal cancer sample; somatic mutation</ul>										2
P22061	5110	<ul><li>I->V at 120: in dbSNP:rs4816</ul>									rs4816	2
P22079	4025	<ul><li>T->I at 105: in dbSNP:rs8178318<li>A->T at 244: in dbSNP:rs8178338<li>R->Q at 414: in dbSNP:rs8178355<li>V->M at 421: in dbSNP:rs2301870<li>R->Q at 514: in dbSNP:rs8178401<li>I->T at 614: in dbSNP:rs8178408<li>D->N at 700: in dbSNP:rs8178412</ul>									<li>rs8178401</li><li>rs8178318</li><li>rs8178408</li><li>rs2301870</li><li>rs8178412</li><li>rs8178355</li><li>rs8178338</li>	2
P22102	2618	<ul><li>L->F at 21: in dbSNP:rs1804387<li>V->I at 421: in dbSNP:rs8788<li>D->G at 510: in dbSNP:rs35927582<li>P->A at 641: in dbSNP:rs34588874<li>D->G at 752: in dbSNP:rs8971</ul>									<li>rs8788</li><li>rs8971</li><li>rs35927582</li><li>rs1804387</li><li>rs34588874</li>	2
P22105	7148	<ul><li>R->W at 29: in EDS3<li>T->A at 302: in dbSNP:rs1150752<li>R->H at 511: in dbSNP:rs204896<li>V->M at 1195: in EDS3<li>H->R at 1248: in dbSNP:rs185819<li>P->H at 2363: in dbSNP:rs2269428<li>G->S at 2555: in dbSNP:rs2269429<li>E->G at 2578: in dbSNP:rs1009382<li>L->I at 4033</ul>									<li>rs204896</li><li>rs1009382</li><li>rs1150752</li><li>rs185819</li><li>rs2269429</li><li>rs2269428</li>	2
P22223	1001	<ul><li>V->M at 237: in dbSNP:rs17854171<li>N->I at 322: in EEM, MIM: 225280<li>R->H at 477: in dbSNP:rs34494880, MIM: 225280<li>R->H at 503: in HJMD, MIM: 601553<li>Q->H at 563: in dbSNP:rs1126933, MIM: 601553</ul>								<li>Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]</li><li>Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280]</li>	<li>rs1126933</li><li>rs17854171</li><li>rs34494880</li>	2
P22234	10606	<ul><li>K->N at 201: in dbSNP:rs11549976</ul>									rs11549976	2
P22301	3586	<ul><li>G->R at 15: in CD; decreases secretion thereby reducing the anti-inflammatory effect, MIM: 266600</ul>	secretion	GO:0046903						Crohn disease (CD) [MIM:266600]		2
P22303	43	<ul><li>R->Q at 34: in dbSNP:rs17881553<li>P->A at 135: in dbSNP:rs17885778<li>V->E at 333: in dbSNP:rs8286<li>H->N at 353: in Yt: in dbSNP rsrs1799805</ul>									<li>rs17885778</li><li>rs8286</li><li>rs17881553</li><li>rs1799805</li>	2
P22304	3423	<ul><li>L->P at 41: in MPS2; mild form; increase in enzyme activity observed in transfected cells, MIM: 309900<li>Missing  at 41: in MPS2; intermediate form, MIM: 309900<li>D->N at 45: in MPS2, MIM: 309900<li>R->P at 48: in MPS2; mild form, MIM: 309900<li>Y->D at 54: in MPS2; severe form, MIM: 309900<li>N->D at 63: in MPS2; mild/intermediate form, MIM: 309900<li>A->E at 68: in MPS2; severe, MIM: 309900<li>S->N at 71: in MPS2; mild form, MIM: 309900<li>S->R at 71: in MPS2; severe form, MIM: 309900<li>L->F at 73: in MPS2; severe form, MIM: 309900<li>A->E at 79: in MPS2; mild form, MIM: 309900<li>A->E at 82: in MPS2, MIM: 309900<li>A->V at 82: in MPS2; no significant enzyme activity, MIM: 309900<li>A->S at 85: in MPS2; severe form, MIM: 309900<li>A->T at 85: in MPS2; mild to severe forms, MIM: 309900<li>P->L at 86: in MPS2; intermediate to severe forms, MIM: 309900<li>P->Q at 86: in MPS2, MIM: 309900<li>P->R at 86: in MPS2; severe form, MIM: 309900<li>S->N at 87: in MPS2; mild form, MIM: 309900<li>R->C at 88: in MPS2; severe form, MIM: 309900<li>R->G at 88: in MPS2; severe form, MIM: 309900<li>R->H at 88: in MPS2; intermediate/severe form; higher affinity for the artificial substrate; poor transport to lysosomes, MIM: 309900<li>R->L at 88: in MPS2; severe form, MIM: 309900<li>R->P at 88: in MPS2; severe form; total absence of residual activity; poor transport to lysosomes, MIM: 309900<li>V->F at 89: in MPS2, MIM: 309900<li>L->P at 92: in MPS2; severe form, MIM: 309900<li>G->D at 94: in MPS2; mild form, MIM: 309900<li>R->G at 95: in MPS2; intermediate form, MIM: 309900<li>R->T at 95: in MPS2; mild form, MIM: 309900<li>Missing  at 95: in MPS2; severe form, MIM: 309900<li>L->R at 102: in MPS2; mild form, MIM: 309900<li>Y->C at 108: in MPS2; mild form, MIM: 309900<li>Y->S at 108: in MPS2; mild form, MIM: 309900<li>N->Y at 115: in MPS2, MIM: 309900<li>S->Y at 117: in MPS2; severe form, MIM: 309900<li>Missing  at 117: in MPS2; severe form; deleterious mutation; results in an inactive enzyme, MIM: 309900<li>T->I at 118: in MPS2; mild to severe forms; greatly reduced activity; poor transport to lysosomes, MIM: 309900<li>Missing  at 118: in MPS2; severe form, MIM: 309900<li>P->H at 120: in MPS2; mild form, MIM: 309900<li>P->R at 120: in MPS2; severe form, MIM: 309900<li>Q->H at 121: in MPS2; severe form, MIM: 309900<li>Q->R at 121: in MPS2; severe form, MIM: 309900<li>E->V at 125: in MPS2; mild form, MIM: 309900<li>S->W at 132: in MPS2; severe form, MIM: 309900<li>G->R at 134: in MPS2; severe form, MIM: 309900<li>K->N at 135: in MPS2; intermediate form, MIM: 309900<li>K->R at 135: in MPS2; intermediate form: in dbSNP rsrs28937311, MIM: 309900<li>H->D at 138: in MPS2; mild/intermediate form, MIM: 309900<li>G->V at 140: in MPS2; no significant enzyme activity, MIM: 309900<li>S->F at 143: in MPS2, MIM: 309900<li>D->H at 148: in MPS2; intermediate form, MIM: 309900<li>H->P at 159: in MPS2; severe form, MIM: 309900<li>Missing  at 159: in MPS2; intermediate form, MIM: 309900<li>P->R at 160: in MPS2, MIM: 309900<li>N->I at 181: in MPS2; mild form, MIM: 309900<li>L->P at 182: in MPS2; intermediate form, MIM: 309900<li>C->F at 184: in MPS2; mild/intermediate form, MIM: 309900<li>C->W at 184: in MPS2, MIM: 309900<li>L->S at 196: in MPS2; mild/intermediate form, MIM: 309900<li>D->G at 198: in MPS2; mild form, MIM: 309900<li>A->P at 205: in MPS2; intermediate form, MIM: 309900<li>L->P at 221: in MPS2; intermediate form, MIM: 309900<li>G->E at 224: in MPS2; severe form, MIM: 309900<li>Y->D at 225: in MPS2; intermediate form, MIM: 309900<li>K->M at 227: in MPS2; intermediate form, MIM: 309900<li>K->Q at 227: in MPS2; severe form, MIM: 309900<li>P->L at 228: in MPS2, MIM: 309900<li>P->T at 228: in MPS2; severe form, MIM: 309900<li>H->R at 229: in MPS2; intermediate/severe form, MIM: 309900<li>H->Y at 229: in MPS2; severe form, MIM: 309900<li>P->L at 231: in MPS2; mild form, MIM: 309900<li>D->N at 252: in MPS2, MIM: 309900<li>L->P at 259: in MPS2; severe form, MIM: 309900<li>Y->N at 264: in MPS2, MIM: 309900<li>N->I at 265: in MPS2; intermediate form; deleterious mutation; residual activity of 7.5% of the wild-type, MIM: 309900<li>P->H at 266: in MPS2; mild form, MIM: 309900<li>P->R at 266: in MPS2, MIM: 309900<li>D->V at 269: in MPS2, MIM: 309900<li>Q->H at 293: in MPS2; mild form, MIM: 309900<li>S->I at 299: in MPS2; mild form, MIM: 309900<li>D->E at 308: in MPS2; mild form, MIM: 309900<li>D->N at 308: in MPS2; intermediate form, MIM: 309900<li>T->A at 309: in MPS2; severe form, MIM: 309900<li>R->C at 313: in MPS2; could be a polymorphism, MIM: 309900<li>L->P at 314: in MPS2; severe form, MIM: 309900<li>S->L at 333: in MPS2; severe form, MIM: 309900<li>D->G at 334: in MPS2; severe form, MIM: 309900<li>D->N at 334: in MPS2; mild form, MIM: 309900<li>H->R at 335: in MPS2; intermediate form, MIM: 309900<li>G->E at 336: in MPS2; severe from, MIM: 309900<li>G->R at 336: in MPS2; severe form, MIM: 309900<li>W->R at 337: in MPS2; intermediate form, MIM: 309900<li>L->R at 339: in MPS2; severe form, MIM: 309900<li>G->D at 340: in MPS2; mild form, MIM: 309900<li>E->K at 341: in MPS2; severe form, MIM: 309900<li>H->Y at 342: in MPS2; mild form, MIM: 309900<li>W->C at 345: in MPS2; mild form, MIM: 309900<li>A->D at 346: in MPS2; mild/severe form, MIM: 309900<li>A->V at 346: in MPS2; mild/severe form, MIM: 309900<li>K->I at 347: in MPS2, MIM: 309900<li>K->Q at 347: in MPS2; severe form, MIM: 309900<li>K->T at 347: in MPS2; severe form; deleterious mutation confirmed, MIM: 309900<li>Y->H at 348: in MPS2, MIM: 309900<li>S->I at 349: in MPS2; severe form, MIM: 309900<li>P->R at 358: in MPS2; severe form, MIM: 309900<li>L->R at 403: in MPS2; intermediate form, MIM: 309900<li>L->P at 410: in MPS2, MIM: 309900<li>C->G at 422: in MPS2; mild form: in dbSNP rsrs28937310, MIM: 309900<li>C->R at 422: in MPS2; severe form, MIM: 309900<li>C->Y at 432: in MPS2; severe form, MIM: 309900<li>E->K at 434: in MPS2, MIM: 309900<li>Q->P at 465: in MPS2; severe form, MIM: 309900<li>P->L at 467: in MPS2; severe form, MIM: 309900<li>R->G at 468: in MPS2; mild to severe forms, MIM: 309900<li>R->L at 468: in MPS2; mild to severe forms, MIM: 309900<li>R->Q at 468: in MPS2; severe/intermediate form; greatly reduced activity; poor transport to lysosomes, MIM: 309900<li>R->W at 468: in MPS2; mild to severe forms, MIM: 309900<li>P->H at 469: in MPS2; mild form, MIM: 309900<li>D->G at 478: in MPS2; mild form, MIM: 309900<li>D->Y at 478: in MPS2; severe form, MIM: 309900<li>P->L at 480: in MPS2; mild form, MIM: 309900<li>P->Q at 480: in MPS2; mild form, MIM: 309900<li>P->R at 480: in MPS2; severe form, MIM: 309900<li>I->K at 485: in MPS2, MIM: 309900<li>I->R at 485: in MPS2; severe form, MIM: 309900<li>MG->IA at 488-489: in MPS2; intermediate form; mutation A-489 confirmed as causative of MPS2, MIM: 309900<li>Y->S at 490: in MPS2; intermediate form, MIM: 309900<li>S->F at 491: in MPS2; mild form, MIM: 309900<li>W->C at 502: in MPS2; severe form, MIM: 309900<li>W->S at 502: in MPS2, MIM: 309900<li>E->K at 521: in MPS2; severe form, MIM: 309900<li>E->V at 521: in MPS2; severe form, MIM: 309900<li>Y->C at 523: in MPS2; mild form, MIM: 309900</ul>	transport	GO:0006810			lysosomes	GO:0005764		Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	<li>rs28937311</li><li>rs28937310</li>	2
P22307	6342	<ul><li>A->D at 155: in a breast cancer sample; somatic mutation</ul>										2
P22309	54658	<ul><li>L->R at 15: in CN-II; mutant protein rapidly degraded by the proteasome owing to its mislocalization in the cell, MIM: 606785<li>P->Q at 34: in CN-II, MIM: 606785<li>H->D at 39: in CN-I, MIM: 218800<li>G->R at 71: in CN-II, Gilbert syndrome and transient familial neonatal hyperbilirubinemia; dbSNP:rs4148323, MIM: 237900<li>F->L at 83: in Gilbert syndrome: in dbSNP rsrs56059937, MIM: 143500<li>Missing  at 170: in CN-I and CN-II; has nearly normal activity at pH 7.6 and is inactive at pH 6.4, MIM: 143500<li>L->Q at 175: in CN-II, MIM: 606785<li>C->R at 177: in CN-I, MIM: 218800<li>R->W at 209: in CN-II, MIM: 606785<li>V->G at 225: in CN-II: in dbSNP rsrs35003977, MIM: 606785<li>P->Q at 229: in CN-II and Gilbert syndrome: in dbSNP rsrs35350960, MIM: 143500<li>G->R at 276: in CN-I, MIM: 218800<li>E->V at 291: in CN-I, MIM: 218800<li>A->V at 292: in CN-I, MIM: 218800<li>I->T at 294: in Gilbert syndrome and CN-II; 40-55% normal activity; normal Km for bilirubin; when homozygous far less repressive and generates the mild Gilbert phenotype, MIM: 143500<li>G->E at 308: in CN-I; no enzyme activity, MIM: 218800<li>Q->R at 331: in CN-II, MIM: 606785<li>R->L at 336: in CN-I and CN-II, MIM: 606785<li>R->Q at 336: in CN-I, MIM: 218800<li>R->W at 336: in CN-II, MIM: 606785<li>W->R at 354: in CN-II, MIM: 606785<li>Q->R at 357: in CN-I, MIM: 218800<li>R->G at 367: in Gilbert syndrome: in dbSNP rsrs55750087, MIM: 143500<li>A->T at 368: in CN-I, MIM: 218800<li>S->F at 375: in CN-I; no enzyme activity, MIM: 218800<li>H->R at 376: in CN-I and CN-II, MIM: 606785<li>G->V at 377: in CN-I and CN-II, MIM: 606785<li>S->R at 381: in CN-I, MIM: 218800<li>P->S at 387: in CN-I, MIM: 218800<li>G->V at 395: in CN-I, MIM: 218800<li>N->D at 400: in CN-II: in dbSNP rsrs28934877, MIM: 606785<li>A->P at 401: in CN-I, MIM: 218800<li>R->C at 403: in CN-II, MIM: 606785<li>K->E at 428: in CN-I, MIM: 218800<li>W->R at 461: in CN-I and CN-II, MIM: 606785<li>A->D at 478: in CN-II, MIM: 606785<li>Y->D at 486: in CN-II, Gilbert syndrome and transient familial neonatal hyperbilirubinemia: in dbSNP rsrs34993780, MIM: 237900<li>A->P at 511: in dbSNP:rs1042709, MIM: 237900</ul>							Q9BXI3	<li>Crigler-Najjar syndrome type II (CN-II) [MIM:606785]</li><li>Transient familial neonatal hyperbilirubinemia [MIM:237900]</li><li>Gilbert syndrome [MIM:143500]</li><li>Crigler-Najjar syndrome type I (CN-I) [MIM:218800]</li>	<li>rs28934877</li><li>rs34993780</li><li>rs56059937</li><li>rs4148323</li><li>rs35350960</li><li>rs35003977</li><li>rs1042709</li><li>rs55750087</li>	2
P22310	54657	<ul><li>P->T at 24: in dbSNP:rs6755571<li>L->P at 132: in Crigler-Najjar type II<li>I->F at 176: in dbSNP:rs45540231<li>Q->R at 332: in Crigler-Najjar type II<li>S->F at 376: in Crigler-Najjar type I<li>Y->D at 487: in Crigler-Najjar type II: in dbSNP rsrs34993780</ul>									<li>rs34993780</li><li>rs6755571</li><li>rs45540231</li>	2
P22314	7317	<ul><li>R->H at 447: in dbSNP:rs2070169<li>M->I at 539: in SMAX2, MIM: 301830<li>S->G at 547: in SMAX2, MIM: 301830</ul>								Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	rs2070169	2
P22352	2878	<ul><li>F->L at 128: in dbSNP:rs8177445</ul>									rs8177445	2
P22413	5167	<ul><li>L->P at 91: in OPLL, MIM: 602475<li>K->Q at 173: associated with NIDDM; dbSNP:rs1044498, MIM: 602475<li>N->S at 179: in dbSNP:rs2273411, MIM: 602475<li>Y->H at 268: in dbSNP:rs1805139, MIM: 602475<li>S->F at 287: in OPLL, MIM: 602475<li>G->V at 342: in IIAC, MIM: 208000<li>Y->F at 371: in IIAC, MIM: 208000<li>L->F at 579: in IIAC, MIM: 208000<li>R->C at 774: in IIAC; dbSNP:rs28933977, MIM: 208000<li>T->P at 779: in dbSNP:rs1805138, MIM: 208000<li>R->T at 886: in dbSNP:rs8192683, MIM: 208000</ul>								<li>Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]</li><li>Idiopathic infantile arterial calcification (IIAC) [MIM:208000]</li>	<li>rs2273411</li><li>rs1805138</li><li>rs1805139</li><li>rs8192683</li>	2
P22455	2264	<ul><li>V->I at 10: in dbSNP:rs1966265<li>P->L at 136: in dbSNP:rs376618<li>T->A at 179: in dbSNP rsrs55675160<li>G->R at 388: in dbSNP:rs351855<li>G->S at 426: in dbSNP rsrs55879131<li>D->N at 516: in dbSNP rsrs34158682<li>R->Q at 529: in dbSNP:rs34284947<li>V->M at 550: in breast pleomorphic lobular sample; somatic mutation<li>P->T at 712: in a lung adenocarcinoma sample; somatic mutation<li>S->N at 772: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>									<li>rs34158682</li><li>rs55675160</li><li>rs351855</li><li>rs55879131</li><li>rs1966265</li><li>rs34284947</li><li>rs376618</li>	2
P22460	3741	<ul><li>P->S at 228: in dbSNP:rs1056464<li>G->S at 300: in a breast cancer sample; somatic mutation<li>R->K at 578: in dbSNP:rs12720445</ul>									<li>rs1056464</li><li>rs12720445</li>	2
P22466	51083	<ul><li>A->V at 16: in dbSNP:rs34725707</ul>									rs34725707	2
P22492	3010	<ul><li>V->L at 14: in dbSNP:rs198844<li>L->F at 52: in dbSNP:rs2051542<li>Q->K at 178: in dbSNP:rs198845</ul>									<li>rs198845</li><li>rs198844</li><li>rs2051542</li>	2
P22528	6699	<ul><li>T->I at 11: in dbSNP:rs3795382<li>Q->H at 23: in clone 15B<li>V->L at 61: in clone 41D<li>A->P at 80: in clone 15B</ul>									rs3795382	2
P22532	6703	<ul><li>T->A at 20: in dbSNP:rs1846857</ul>									rs1846857	2
P22557	212	<ul><li>D->Y at 159: in XLSA, MIM: 301300<li>Y->H at 199: in XLSA, MIM: 301300<li>R->Q at 204: in XLSA; 15% to 35% activity of wild-type, MIM: 301300<li>T->S at 388: in XLSA, MIM: 301300<li>R->C at 411: in XLSA; 12% to 25% activity of wild-type, MIM: 301300<li>R->Q at 448: in XLSA, MIM: 301300<li>R->C at 452: in XLSA, MIM: 301300<li>I->N at 476: in XLSA, MIM: 301300<li>R->H at 560: in XLSA, MIM: 301300</ul>								X-linked sideroblastic anemia (XLSA) [MIM:301300]		2
P22570	2232	<ul><li>R->L at 7: in dbSNP rsrs28365947<li>R->Q at 123: in dbSNP:rs690514<li>G->V at 213: in dbSNP rsrs35692345<li>P->L at 248: in dbSNP rsrs35072974<li>R->W at 251: in dbSNP:rs34038065<li>R->C at 301: in dbSNP rsrs34118765<li>T->M at 345: in dbSNP:rs35660143<li>P->S at 352: in dbSNP rsrs35696549<li>T->A at 472: in dbSNP rsrs35769464</ul>									<li>rs35769464</li><li>rs34118765</li><li>rs35072974</li><li>rs35660143</li><li>rs35692345</li><li>rs690514</li><li>rs28365947</li><li>rs34038065</li><li>rs35696549</li>	2
P22607	2261	<ul><li>G->R at 65: in dbSNP:rs2305178<li>T->S at 79: in a lung adenocarcinoma sample; somatic mutation<li>C->R at 228: in a colorectal adenocarcinoma sample; somatic mutation<li>R->C at 248: in bladder cancer, PLSD-SD, keratinocytic non-epidermolytic nevus and TD; severe and lethal; also found as somatic mutation in one patient with multiple myeloma, MIM: 187600<li>S->C at 249: in bladder cancer, cervical cancer, PLSD-SD and TD; type 1, MIM: 187600<li>P->R at 250: in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis; dbSNP:rs4647924, MIM: 602849<li>E->K at 322: in colorectal cancer, MIM: 602849<li>T->M at 338: in dbSNP rsrs56240927, MIM: 602849<li>G->C at 370: in bladder cancer, keratinocytic non-epidermolytic nevus and TD; type 1, MIM: 187600<li>S->C at 371: in TD; type 1, MIM: 187600<li>Y->C at 373: in PLSD-SD and TD; type 1, MIM: 187600<li>G->C at 375: in ACH, MIM: 100800<li>G->R at 380: in keratinocytic non-epidermolytic nevus and ACH; results in constitutive activation; very common mutation; dbSNP:rs28931614, MIM: 162900<li>F->L at 384: in dbSNP:rs17881656, MIM: 162900<li>A->E at 391: in CAN; dbSNP:rs28931615, MIM: 612247<li>A->T at 441: in dbSNP:rs17884368, MIM: 612247<li>D->N at 513: in LADDS, MIM: 149730<li>I->V at 538: in hypochondroplasia, MIM: 146000<li>N->K at 540: in hypochondroplasia: in dbSNP rsrs28933068, MIM: 146000<li>N->S at 540: in hypochondroplasia; mild, MIM: 146000<li>N->T at 540: in hypochondroplasia, MIM: 146000<li>R->H at 621: in CATSHL syndrome, MIM: 610474<li>D->N at 646: in dbSNP rsrs56266857, MIM: 610474<li>K->E at 650: in TD and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation, MIM: 187600<li>K->M at 650: in ACH and TD; type 1, MIM: 187600<li>K->Q at 650: in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations, MIM: 146000<li>A->T at 717: in dbSNP:rs17882190, MIM: 146000<li>I->F at 726: in dbSNP:rs17880763, MIM: 146000</ul>								<li>Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]</li><li>Bladder cancer [MIM:109800]</li><li>Hypochondroplasia (HCH) [MIM:146000]</li><li>Cervical cancer [MIM:603956]</li><li>Achondroplasia (ACH) [MIM:100800]</li><li>Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]</li><li>Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]</li><li>Keratinocytic non-epidermolytic nevus [MIM:162900]</li><li>Thanatophoric dysplasia (TD) [MIM:187600, 187601]</li><li>Muenke syndrome (MNKS) [MIM:602849]</li><li>Platyspondylic lethal skeletal dysplasia Sand Diego type (PLSD-SD) [MIM:270230]</li>	<li>rs56240927</li><li>rs2305178</li><li>rs17884368</li><li>rs28931614</li><li>rs28931615</li><li>rs17880763</li><li>rs17881656</li><li>rs28933068</li><li>rs56266857</li><li>rs17882190</li><li>rs4647924</li>	2
P22612	5568	<ul><li>I->N at 251: in dbSNP rsrs56287972<li>H->D at 268: in dbSNP:rs3730386</ul>									<li>rs56287972</li><li>rs3730386</li>	2
P22674	10309	<ul><li>L->M at 161: in dbSNP:rs13169396</ul>									rs13169396	2
P22680	1581	<ul><li>F->S at 100<li>N->S at 233: in dbSNP:rs8192874<li>D->N at 347</ul>									rs8192874	2
P22692	3487	<ul><li>V->G at 42: in dbSNP:rs599199</ul>									rs599199	2
P22694	5567	<ul><li>R->Q at 106: in dbSNP:rs36117118</ul>									rs36117118	2
P22695	7385	<ul><li>R->S at 148: in dbSNP:rs2228473<li>R->Q at 183: in dbSNP:rs4850<li>F->Y at 208: in a colorectal cancer sample; somatic mutation<li>R->H at 254: in dbSNP:rs11863893</ul>									<li>rs11863893</li><li>rs4850</li><li>rs2228473</li>	2
P22735	7051	<ul><li>S->Y at 42: in LI1: in dbSNP rsrs41295338, MIM: 242300<li>D->V at 102: in LI1, MIM: 242300<li>D->N at 132: in dbSNP:rs2229462, MIM: 242300<li>R->H at 142: in LI1, MIM: 242300<li>R->C at 143: in LI1 and NCIE, MIM: 242100<li>R->H at 143: in LI1, MIM: 242300<li>G->S at 218: in LI1, MIM: 242300<li>N->T at 289: in LI1, MIM: 242300<li>R->W at 307: in LI1, MIM: 242300<li>R->Q at 323: in LI1, MIM: 242300<li>V->L at 379: in LI1 and NCIE, MIM: 242100<li>R->H at 389: in NCIE, MIM: 242100<li>R->L at 396: in NCIE, MIM: 242100<li>V->M at 518: in dbSNP:rs35312232, MIM: 242100<li>R->C at 607: in dbSNP:rs2229464, MIM: 242100<li>S->L at 755: in dbSNP:rs35926651, MIM: 242100<li>D->V at 802: in dbSNP:rs2228337, MIM: 242100</ul>								<li>Ichthyosis lamellar type 1 (LI1) [MIM:242300]</li><li>Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]</li>	<li>rs35926651</li><li>rs2228337</li><li>rs35312232</li><li>rs41295338</li><li>rs2229462</li><li>rs2229464</li>	2
P22748	762	<ul><li>R->W at 14: in RP17; abolishes interaction with SLC4A4. Impaired SLC4A4 cotransporter activity stimulation, MIM: 600852<li>R->S at 219: in RP17; no catalytic activity. Impaired SLC4A4 cotransporter activity stimulation, MIM: 600852<li>V->L at 237: in dbSNP:rs2229178, MIM: 600852</ul>			catalytic activity	GO:0003824			<li>O13134</li><li>Q9Y6R1</li><li>Q9XSZ4</li><li>Q4U116</li><li>Q9GL77</li>	Retinitis pigmentosa type 17 (RP17) [MIM:600852]	rs2229178	2
P22749	10578	<ul><li>T->I at 119: in dbSNP:rs11127</ul>									rs11127	2
P22760	13	<ul><li>I->V at 281: in dbSNP:rs1803155</ul>									rs1803155	2
P22792	1370	<ul><li>A->T at 305: in dbSNP:rs3732477<li>W->R at 509: in dbSNP:rs4974539<li>V->M at 536: in dbSNP:rs11711157</ul>									<li>rs11711157</li><li>rs4974539</li><li>rs3732477</li>	2
P22830	2235	<ul><li>G->C at 55: in EPP; dbSNP:rs3848519, MIM: 177000<li>P->R at 62: in EPP, MIM: 177000<li>I->K at 71: in EPP; enzyme totally inactive, MIM: 177000<li>R->Q at 96: in dbSNP:rs1041951, MIM: 177000<li>Q->L at 139: in EPP; autosomal recessive EPP; enzyme retains 18% of activity, MIM: 177000<li>S->P at 151: in EPP; enzyme totally inactive, MIM: 177000<li>E->K at 178: in EPP, MIM: 177000<li>L->R at 182: in EPP; enzyme totally inactive, MIM: 177000<li>I->T at 186: in EPP, MIM: 177000<li>Y->H at 191: in EPP; enzyme retains 72% of activity, MIM: 177000<li>P->T at 192: in EPP; enzyme totally inactive, MIM: 177000<li>C->Y at 236: in EPP; enzyme retains 12% of activity, MIM: 177000<li>F->L at 260: in EPP; autosomal recessive EPP; enzyme retains 52% of activity, MIM: 177000<li>S->L at 264: in EPP, MIM: 177000<li>M->I at 267: in EPP; unchanged activity; but increased thermolability, MIM: 177000<li>T->I at 283: in EPP; enzyme almost inactive, MIM: 177000<li>M->K at 288: in EPP; enzyme totally inactive, MIM: 177000<li>P->L at 334: in EPP; autosomal recessive EPP; enzyme retains 19% of activity, MIM: 177000<li>V->G at 362: in EPP, MIM: 177000<li>K->N at 379: in EPP; autosomal recessive EPP; enzyme retains 37% of activity, MIM: 177000<li>H->P at 386: in EPP; loss of activity, MIM: 177000<li>C->S at 406: in EPP; enzyme almost inactive, MIM: 177000<li>C->Y at 406: in EPP; enzyme almost inactive, MIM: 177000<li>NPVC->KSVG at 408-411: in EPP; no detectable enzymatic activity, MIM: 177000<li>F->S at 417: in EPP; reduced activity, MIM: 177000<li>Missing  at 417: in EPP; enzyme totally inactive, MIM: 177000</ul>							P11678	Erythropoietic protoporphyria (EPP) [MIM:177000]	<li>rs3848519</li><li>rs1041951</li>	2
P22888	3973	<ul><li>Q->QLQ at 18<li>C->R at 131: in LCH, MIM: 152790<li>N->S at 284, MIM: 152790<li>S->N at 306, MIM: 152790<li>C->S at 343: in LCH, MIM: 152790<li>E->K at 354: in LCH, MIM: 152790<li>A->V at 373: in FMPP, MIM: 176410<li>M->T at 398: in FMPP, MIM: 176410<li>L->R at 457: in FMPP, MIM: 176410<li>I->L at 542: in FMPP, MIM: 176410<li>C->R at 543: in FMPP, MIM: 176410<li>D->G at 564: in FMPP, MIM: 176410<li>D->N at 564: in a breast cancer sample; somatic mutation, MIM: 176410<li>A->V at 568: in FMPP, MIM: 176410<li>M->I at 571: in FMPP, MIM: 176410<li>A->V at 572: in FMPP, MIM: 176410<li>I->L at 575: in FMPP, MIM: 176410<li>T->I at 577: in FMPP, MIM: 176410<li>D->E at 578: in FMPP, MIM: 176410<li>D->G at 578: in FMPP, MIM: 176410<li>D->H at 578: in Leydig cell tumor; somatic mutation; causes receptor activation and precocious puberty, MIM: 176410<li>D->Y at 578: in FMPP, MIM: 176410<li>C->R at 581: in FMPP, MIM: 176410<li>A->P at 593: in LCH; abolishes signal transduction, MIM: 152790<li>Missing  at 608-609: in LCH, MIM: 152790<li>S->Y at 616: in LCH; micropenis, MIM: 152790<li>I->K at 625: in LCH, MIM: 152790</ul>	transduction	GO:0009293						<li>Familial male precocious puberty (FMPP) [MIM:176410]</li><li>Leydig cell hypoplasia (LCH) [MIM:152790]</li>		2
P22891	8858	<ul><li>E->K at 70: in dbSNP:rs3024778<li>R->H at 295: in dbSNP:rs3024772</ul>									<li>rs3024772</li><li>rs3024778</li>	2
P22894	4317	<ul><li>S->C at 3: in dbSNP:rs17099450<li>T->I at 32: in dbSNP:rs3765620<li>K->E at 87: in dbSNP:rs1940475<li>G->E at 154: in dbSNP rsrs35056226<li>D->V at 193: in dbSNP rsrs34428739<li>N->Y at 246: in dbSNP rsrs35243553<li>V->A at 436: in dbSNP rsrs34009635<li>K->T at 460: in dbSNP:rs35866072</ul>									<li>rs35866072</li><li>rs35243553</li><li>rs1940475</li><li>rs3765620</li><li>rs35056226</li><li>rs34428739</li><li>rs34009635</li><li>rs17099450</li>	2
P22897	4360	<ul><li>T->I at 167: in dbSNP:rs2296414</ul>									rs2296414	2
P23025	7507	<ul><li>Missing at 78<li>P->L at 94: in XP-A, MIM: 278700<li>V->I at 97: in dbSNP:rs10983315, MIM: 278700<li>C->F at 108: in XP-A; severe form, MIM: 278700<li>R->K at 130: in XP-A, MIM: 278700<li>Q->H at 185: in XP-A, MIM: 278700<li>R->Q at 228: in dbSNP:rs1805160, MIM: 278700<li>V->L at 234: in dbSNP:rs3176749, MIM: 278700<li>H->R at 244: in XP-A; mild form, MIM: 278700<li>L->V at 252: in dbSNP:rs3176750, MIM: 278700</ul>								Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	<li>rs10983315</li><li>rs3176750</li><li>rs1805160</li><li>rs3176749</li>	2
P23109	270	<ul><li>E->K at 22: in dbSNP:rs2273268<li>P->L at 48: polymorphism; activity comparable to wild-type<li>R->W at 388: in AMPDDM; loss of activity: in dbSNP rsrs35859650, MIM: 102770<li>R->H at 425: in AMPDDM; loss of activity, MIM: 102770<li>P->H at 633: in a colorectal cancer sample; somatic mutation, MIM: 102770</ul>								Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	<li>rs2273268</li><li>rs35859650</li>	2
P23141	1066	<ul><li>G->GA at 18<li>S->N at 75: in dbSNP:rs2307240<li>G->E at 143: 5.4-fold decrease in activity with p-nitrophenyl acetate as substrate; no change in affinity for p-nitrophenyl acetate; loss of activity with L- or D-methylphenidate as substrate<li>R->H at 199: in dbSNP:rs2307243<li>D->E at 203: in dbSNP:rs2307227<li>Missing at 362</ul>									<li>rs2307227</li><li>rs2307243</li><li>rs2307240</li>	2
P23142	2192	<ul><li>Q->R at 141: in dbSNP:rs136730</ul>									rs136730	2
P23219	5742	<ul><li>R->W at 8: in dbSNP:rs1236913<li>P->L at 17: in dbSNP rsrs3842787<li>R->H at 53: in dbSNP rsrs3842789<li>R->L at 149: in dbSNP rsrs10306140<li>L->M at 237: in dbSNP rsrs5789<li>K->R at 359: in dbSNP:rs5791<li>I->V at 443: in dbSNP:rs5792<li>V->I at 481: in dbSNP rsrs5794</ul>									<li>rs10306140</li><li>rs5789</li><li>rs1236913</li><li>rs5791</li><li>rs3842789</li><li>rs5792</li><li>rs3842787</li><li>rs5794</li>	2
P23258	7283	<ul><li>M->V at 413: in dbSNP:rs13663</ul>									rs13663	2
P23276	3792	<ul><li>A->T at 163: in dbSNP:rs8175974<li>R->P at 180: in KEL24 antigen: in dbSNP rsrs61729039<li>T->M at 193: in KEL1/K antigen; dbSNP:rs8176058<li>R->Q at 248: in KEL25 antigen: in dbSNP rsrs61729040<li>E->K at 249: in KEL27 antigen: in dbSNP rsrs61729042<li>R->Q at 281: in KEL21/Kp: in dbSNP rsrs61729036<li>R->W at 281: in KEL3/Kp: in dbSNP rsrs8176059<li>V->A at 302: in KEL17 antigen: in dbSNP rsrs61729034<li>A->V at 322: in KEL22 antigen: in dbSNP rsrs61729037<li>Q->R at 382: in KEL23 antigen: in dbSNP rsrs61729038<li>R->Q at 406: in KEL26 antigen: in dbSNP rsrs61729041<li>R->Q at 492: in KEL19 antigen: in dbSNP rsrs61729035<li>E->V at 494: in KEL10/Ul: in dbSNP rsrs61729032<li>H->R at 548: in KEL12 antigen: in dbSNP rsrs61729033<li>L->P at 597: in KEL6/Js: in dbSNP rsrs8176038<li>S->A at 726: in dbSNP:rs8176048</ul>							<li>Q08979</li><li>P38853</li>		<li>rs61729040</li><li>rs61729041</li><li>rs61729032</li><li>rs61729033</li><li>rs61729042</li><li>rs61729034</li><li>rs8176038</li><li>rs61729036</li><li>rs61729035</li><li>rs8176058</li><li>rs61729038</li><li>rs8176059</li><li>rs61729037</li><li>rs8176048</li><li>rs61729039</li><li>rs8175974</li>	2
P23280	765	<ul><li>Q->L at 37: in dbSNP:rs34265054<li>T->M at 55: in dbSNP:rs2274327<li>M->L at 68: in dbSNP:rs2274328<li>G->A at 70: in dbSNP:rs2274329<li>S->G at 90: in dbSNP:rs2274333</ul>									<li>rs2274329</li><li>rs34265054</li><li>rs2274327</li><li>rs2274328</li><li>rs2274333</li>	2
P23284	5479	<ul><li>V->L at 60: in dbSNP:rs11558595</ul>									rs11558595	2
P23327	3270	<ul><li>S->N at 43: in dbSNP:rs3745298<li>S->A at 96: in dbSNP:rs3745297<li>Missing at 204</ul>									<li>rs3745298</li><li>rs3745297</li>	2
P23352	3730	<ul><li>C->Y at 163: in KAL1, MIM: 308700<li>Missing  at 163: in KAL1, MIM: 308700<li>C->R at 172: in KAL1, MIM: 308700<li>R->P at 262: in KAL1, MIM: 308700<li>N->K at 267: in KAL1; loss of effect on the migratory activity of GnRH neurons, MIM: 308700<li>N->S at 304: in KAL1, MIM: 308700<li>S->L at 396: in KAL1, MIM: 308700<li>E->K at 514: in KAL1; loss of effect on the migratory activity of GnRH neurons: in dbSNP rsrs28937309, MIM: 308700<li>F->L at 517: in KAL1; loss of effect on the migratory activity of GnRH neurons, MIM: 308700<li>V->I at 534: in dbSNP:rs808119, MIM: 308700<li>W->R at 571: in KAL1, MIM: 308700<li>K->M at 666, MIM: 308700<li>R->H at 668, MIM: 308700</ul>							<li>Q90369</li><li>P33005</li><li>P23352</li><li>P27429</li>	Kallmann syndrome type 1 (KAL1) [MIM:308700]	<li>rs28937309</li><li>rs808119</li>	2
P23368	4200	<ul><li>P->L at 114: in dbSNP:rs16952692<li>G->E at 450: in dbSNP:rs649224</ul>									<li>rs16952692</li><li>rs649224</li>	2
P23378		<ul><li>A->P at 283: in NKH, MIM: 605899<li>P->T at 329: in one non-ketotic hyperglycinemia patient, MIM: 605899<li>R->S at 515: in NKH, MIM: 605899<li>S->I at 564: in NKH; common mutation in Finland, MIM: 605899<li>Missing  at 756: in NKH, MIM: 605899</ul>								Non-ketotic hyperglycinemia (NKH) [MIM:605899]		2
P23381	7453	<ul><li>A->S at 54: in dbSNP:rs2234521<li>E->D at 455: in a breast cancer sample; somatic mutation</ul>									rs2234521	2
P23409	4618	<ul><li>A->D at 90: in ADCNM, MIM: 160150<li>A->S at 112: in ADCNM; also identified in a Becker muscular dystrophy patient; dbSNP:rs28928909, MIM: 160150</ul>								Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	rs28928909	2
P23415	2741	<ul><li>I->N at 272: in STHE, MIM: 149400<li>P->T at 278: in STHE, MIM: 149400<li>R->H at 280: in STHE, MIM: 149400<li>Q->H at 294: in STHE, MIM: 149400<li>R->L at 299: in STHE; decreased potency of glycine to activate the channel, MIM: 149400<li>R->Q at 299: in STHE; decreased potency of glycine to activate the channel, MIM: 149400<li>K->E at 304: in STHE, MIM: 149400<li>Y->C at 307: in STHE, MIM: 149400<li>R->H at 428: in STHE, MIM: 149400</ul>								Startle disease (STHE) [MIM:149400]		2
P23434	2653	<ul><li>L->S at 21: in dbSNP:rs8052579<li>N->S at 73: in dbSNP:rs8177877</ul>									<li>rs8177877</li><li>rs8052579</li>	2
P23443	6198	<ul><li>M->I at 225<li>R->C at 272<li>W->C at 276<li>G->E at 289: in a colorectal cancer sample; somatic mutation<li>S->A at 398</ul>										2
P23458	3716	<ul><li>N->K at 973: in dbSNP rsrs34680086</ul>									rs34680086	2
P23468	5789	<ul><li>R->Q at 28: in a colorectal cancer sample; somatic mutation<li>L->P at 276: in a colorectal cancer sample; somatic mutation<li>Q->E at 447: in dbSNP:rs10977171<li>V->A at 901: in a colorectal cancer sample; somatic mutation<li>E->D at 1078: in dbSNP:rs7869444</ul>									<li>rs10977171</li><li>rs7869444</li>	2
P23470		<ul><li>G->S at 574: in dbSNP:rs2292245<li>Q->R at 639: in dbSNP:rs9870460</ul>									<li>rs2292245</li><li>rs9870460</li>	2
P23471	5803	<ul><li>I->S at 3: in dbSNP:rs740965<li>R->L at 6: in dbSNP:rs11980387<li>G->D at 1433: in dbSNP:rs1147504</ul>									<li>rs1147504</li><li>rs740965</li><li>rs11980387</li>	2
P23490	4014	<ul><li>S->G at 29: in dbSNP:rs6661601</ul>									rs6661601	2
P23497	6672	<ul><li>M->V at 433: in HeLa cells; dbSNP:rs12724<li>S->P at 471: in HeLa cells<li>E->G at 699: in dbSNP:rs34700604</ul>									<li>rs12724</li><li>rs34700604</li>	2
P23508	4163	<ul><li>R->K at 190: in dbSNP:rs6594681<li>R->L at 267: in colorectal cancer<li>P->L at 486: in colorectal cancer; dbSNP:rs35269015<li>S->L at 490: in colorectal cancer<li>R->Q at 506: in colorectal cancer<li>A->V at 698: in colorectal cancer<li>S->C at 751: in dbSNP:rs17313892</ul>									<li>rs17313892</li><li>rs6594681</li><li>rs35269015</li>	2
P23515	4974	<ul><li>G->D at 21: in dbSNP:rs11080149<li>V->A at 435: in dbSNP:rs16972169</ul>									<li>rs16972169</li><li>rs11080149</li>	2
P23526	191	<ul><li>R->W at 38: in dbSNP:rs13043752<li>D->N at 86</ul>									rs13043752	2
P23560	627	<ul><li>T->I at 2: in CCHS; dbSNP:rs8192466, MIM: 209880<li>V->M at 66: polymorphism that impairs localization to secretory granules or synapses; associated with poorer episodic memory; may have a protective effect in obsessive-compulsive disorder; dbSNP:rs6265, MIM: 209880<li>Q->H at 75: in dbSNP:rs1048218, MIM: 209880<li>R->M at 125: in dbSNP:rs1048220, MIM: 209880<li>R->L at 127: in dbSNP:rs1048221, MIM: 209880</ul>	<li>memory</li><li>localization</li>	<li>GO:0007613</li><li>GO:0051179</li>			<li>synapses</li><li>secretory granules</li>	<li>GO:0045202</li><li>GO:0030141</li>		Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	<li>rs1048220</li><li>rs1048221</li><li>rs6265</li><li>rs8192466</li><li>rs1048218</li>	2
P23582	4880	<ul><li>R->Q at 82: in dbSNP:rs5267</ul>									rs5267	2
P23743	1606	<ul><li>H->Y at 538: in dbSNP:rs17852990</ul>									rs17852990	2
P23760	5077	<ul><li>F->L at 45: in WS1, MIM: 193500<li>N->H at 47: in WS3, MIM: 148820<li>N->K at 47: in CDHS, MIM: 122880<li>G->R at 48: in WS1, MIM: 193500<li>P->L at 50: in WS1; important hearing loss, MIM: 193500<li>R->L at 56: in WS1; associated with meningomyelocele, MIM: 193500<li>I->F at 59: in WS1, MIM: 193500<li>I->N at 59: in WS1, MIM: 193500<li>V->M at 60: in WS1, MIM: 193500<li>M->V at 62: in WS1, MIM: 193500<li>Missing  at 63-67: in WS1, MIM: 193500<li>S->L at 73: in WS1, MIM: 193500<li>V->M at 78: in WS1, MIM: 193500<li>G->A at 81: in WS1; originally classified as Waardenburg syndrome type 2, MIM: 193500<li>S->F at 84: in WS3, MIM: 148820<li>K->E at 85: in WS1, MIM: 193500<li>Y->H at 90: in WS3: in dbSNP rsrs28939096, MIM: 148820<li>G->D at 99: in WS1, MIM: 193500<li>F->S at 238: in WS1, MIM: 193500<li>V->F at 265: in WS1, MIM: 193500<li>W->C at 266: in WS1, MIM: 193500<li>R->C at 270: in WS1 and WS3, MIM: 148820<li>R->C at 271: in WS1, MIM: 193500<li>R->G at 271: in WS1, MIM: 193500<li>R->H at 271: in WS1; associated with Lys-273 in one family, MIM: 193500<li>R->K at 273: associated with His-271 in one Waardenburg syndrome type I family, MIM: 193500<li>T->K at 315: in dbSNP:rs2234675, MIM: 193500<li>Q->H at 391: in WS1, MIM: 193500</ul>	hearing	GO:0007605					<li>P23630</li><li>P13345</li><li>P05821</li><li>Q9T1X2</li><li>P13344</li><li>P10099</li><li>P15176</li><li>O00399</li><li>P51728</li><li>Q03709</li>	<li>Waardenburg syndrome type 1 (WS1) [MIM:193500]</li><li>Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]</li><li>Waardenburg syndrome type 3 (WS3) [MIM:148820]</li>	<li>rs2234675</li><li>rs28939096</li>	2
P23771	2625	<ul><li>G->S at 242: in dbSNP:rs11567901<li>W->R at 274: in HDR, MIM: 146255<li>R->L at 366: in a breast cancer sample; somatic mutation, MIM: 146255</ul>								Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]	rs11567901	2
P23786	1376	<ul><li>P->H at 50: in CPT-II deficiency; muscular type; dbSNP:rs28936674: in dbSNP rsrs28936375, MIM: 608836<li>S->L at 113: in CPT-II deficiency; muscular form. Frequent mutation, may be a polymorphism as it found in some 'normal' cDNA seqeuences, MIM: 608836<li>R->Q at 151: in CPT-II deficiency, MIM: 608836<li>E->K at 174: in CPT-II deficiency; muscular type: in dbSNP rsrs28936674, MIM: 608836<li>Y->D at 210: in CPT-II deficiency, MIM: 608836<li>D->G at 213: in CPT-II deficiency, MIM: 608836<li>M->T at 214: in CPT-II deficiency, MIM: 608836<li>P->L at 227: in CPT-II deficiency, MIM: 608836<li>R->Q at 296: in CPT-II deficiency, MIM: 608836<li>F->C at 352: in dbSNP:rs2229291, MIM: 608836<li>V->I at 368: common polymorphism; dbSNP:rs1799821, MIM: 608836<li>F->Y at 383: in CPT-II deficiency; hepatocardiomuscular form; dbSNP:rs28936673, MIM: 608836<li>F->L at 448: in CPT-II deficiency, MIM: 608836<li>Y->F at 479: in CPT-II deficiency, MIM: 608836<li>R->C at 503: in CPT-II deficiency, MIM: 608836<li>G->D at 549: in CPT-II deficiency, MIM: 608836<li>Q->R at 550: in CPT-II deficiency, MIM: 608836<li>D->N at 553: in CPT-II deficiency: in dbSNP rsrs28936376, MIM: 608836<li>S->C at 588: in dbSNP:rs1871748, MIM: 608836<li>G->R at 600: in CPT-II deficiency, MIM: 608836<li>P->S at 604: in CPT-II deficiency, MIM: 608836<li>Y->S at 628: in CPT-II deficiency; hepatocardiomuscular form: in dbSNP rsrs28936673, MIM: 608836<li>R->C at 631: in CPT-II deficiency; early-onset hepatocardiomuscular form, MIM: 608836<li>M->V at 647: common polymorphism; dbSNP:rs1799822, MIM: 608836</ul>							<li>Q60HG9</li><li>P23786</li><li>P18886</li><li>Q2KJB7</li><li>P52825</li>	<li>Carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:255110, 600649]</li><li>Lethal neonatal carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:608836]</li>	<li>rs1871748</li><li>rs2229291</li><li>rs28936673</li><li>rs28936674</li><li>rs1799822</li><li>rs1799821</li><li>rs28936375</li><li>rs28936376</li>	2
P23921	6240	<ul><li>K->Q at 590: in dbSNP:rs2228123<li>V->A at 778: in dbSNP:rs2229196</ul>									<li>rs2228123</li><li>rs2229196</li>	2
P23942	5961	<ul><li>R->W at 13: in RP7; in combination with a null mutation of ROM1, MIM: 608133<li>I->V at 32: in some patients with macular dystrophy, MIM: 608133<li>L->F at 45: in RP7; in combination with a null mutation of ROM1, MIM: 608133<li>Missing  at 67: in PDREP; also in cone-rod dystrophy, MIM: 608133<li>G->R at 68: in PDREP; also in cone-rod dystrophy, MIM: 169150<li>Missing  at 118: in RP7, MIM: 169150<li>L->R at 126: in RP7, MIM: 608133<li>R->W at 142: in a patient with central areolar choroidal dystrophy, MIM: 608133<li>K->R at 153: in RP7, MIM: 608133<li>Missing  at 153: in RP7, MIM: 608133<li>D->N at 157: in PDREP, MIM: 169150<li>C->Y at 165: in RP7, MIM: 608133<li>G->D at 167: in PDREP; butterfly-shaped, MIM: 169150<li>G->S at 167: in PDREP; butterfly-shaped, MIM: 169150<li>Missing  at 169: in some patients with macular dystrophy, MIM: 169150<li>R->G at 172: in PDREP; butterfly-shaped, MIM: 169150<li>R->Q at 172: in some patients with macular dystrophy, MIM: 169150<li>R->W at 172: in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy, MIM: 169150<li>D->V at 173: in RP7, MIM: 608133<li>Y->S at 184: in cone-rod dystrophy, MIM: 608133<li>L->P at 185: in RP7; in combination with a null mutation of ROM1, MIM: 608133<li>Missing  at 193: in PDREP; also in cone-rod dystrophy, MIM: 608133<li>R->L at 195: in CCAD, MIM: 608133<li>G->D at 208: in RP7, MIM: 608133<li>P->R at 210: in PDREP and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization, MIM: 608133<li>P->S at 210: in RP7, MIM: 608133<li>F->L at 211: in RP7, MIM: 608133<li>S->G at 212: in RP7, MIM: 608133<li>S->T at 212: in AVMD, MIM: 608161<li>C->R at 213: in PDREP, MIM: 169150<li>C->S at 214: in RP7, MIM: 608133<li>P->L at 216: in RP7, MIM: 608133<li>P->S at 216: in RP7, MIM: 608133<li>P->R at 219: in some patients with macular dystrophy, MIM: 608133<li>Missing  at 219: in RP7, MIM: 608133<li>R->Q at 220: in PDREP, MIM: 169150<li>R->W at 220: in PDREP, MIM: 169150<li>N->H at 244: in cone-rod dystrophy, MIM: 169150<li>N->K at 244: in RP7; with bulls-eye maculopathy, MIM: 608133<li>G->D at 266: in RP7, MIM: 608133<li>V->I at 268: in AVMD, MIM: 608161<li>E->Q at 304: associated with D-338 on the same haplotype: in dbSNP rsrs390659, MIM: 608161<li>G->D at 305: in AVMD, MIM: 608161<li>K->R at 310: in dbSNP rsrs425876, MIM: 608161<li>P->L at 313, MIM: 608161<li>G->D at 338: associated with Q-304 on the same haplotype: in dbSNP rsrs434102, MIM: 608161</ul>							<li>P52205</li><li>P53046</li><li>Q695U0</li><li>Q03395</li>	<li>Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]</li><li>Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]</li><li>Retinitis pigmentosa type 7 (RP7) [MIM:608133]</li>	<li>rs425876</li><li>rs434102</li><li>rs390659</li>	2
P23945	2492	<ul><li>S->Y at 128: in OHSS; displays increase in affinity and sensitivity toward hCG and does not show any constitutive activity nor promiscuous activation by TSH, MIM: 608115<li>I->T at 160: in ODG1; impairs cell surface expression, MIM: 233300<li>A->V at 189: in ODG1; very frequent in the Finnish population, MIM: 233300<li>D->V at 224: in ODG1; FSH binding is barely detectable; impaired targeting to the cell membrane; adenylate cyclase stimulation by FSH is 4 +-2% residual activity, MIM: 233300<li>T->A at 307: in dbSNP:rs6165, MIM: 233300<li>P->R at 348: in ODG1, MIM: 233300<li>A->T at 419: in ODG1, MIM: 233300<li>T->A at 449: in OHSS; increase of receptor sensitivity to both hCG and TSH together with an increase in basal activity, MIM: 608115<li>T->I at 449: in OHSS; dbSNP:rs28928870, MIM: 608115<li>P->T at 519: in ODG1; totally impairs adenylate cyclase stimulation in vitro; alters the cell surface targeting of the receptor which remains trapped intracellularly, MIM: 233300<li>S->R at 524: in dbSNP:rs6167, MIM: 233300<li>I->T at 545: in OHSS; displays promiscuous activation by both hCG and TSH together with detectable constitutive activity, MIM: 608115<li>D->G at 567: in FSHR activation; 1.5-fold increase in basal cAMP production compared to the wild-type receptor indicating that this mutation leads to ligand-independent constitutive activation, MIM: 608115<li>D->N at 567: in OHSS; dbSNP:rs28928871, MIM: 608115<li>R->C at 573: in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity, MIM: 233300<li>F->S at 591: in ovarian sex cord tumor; loss of function, MIM: 233300<li>L->V at 601: in ODG1; binds FSH with a similar affinity than the wild-type receptor; adenylate cyclase stimulation by FSH is 12 +-3% residual activity, MIM: 233300<li>N->S at 680: associated with longer menstrual cycles; dbSNP:rs6166, MIM: 233300</ul>	<li>menstrual cycles</li><li>transduction</li>	<li>GO:0042698</li><li>GO:0009293</li>	binding	GO:0005488	<li>cell membrane</li><li>cell surface</li>	<li>GO:0005886</li><li>GO:0009928,GO:0009986</li>	<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>P32212</li><li>Q9WXC3</li><li>P0A1A7</li><li>Q6R6L8</li><li>P0A1A8</li><li>Q05766</li><li>P79763</li><li>P40134</li><li>P40135</li><li>P40130</li><li>P14605</li><li>Q8R428</li><li>Q59119</li><li>P49059</li><li>P43524</li><li>Q6YNB6</li><li>P27580</li><li>P08678</li><li>P40127</li><li>P35379</li><li>P35376</li><li>Q8XAP1</li><li>Q7ZTV5</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>P59739</li><li>Q95179</li><li>P49606</li><li>Q5GJ04</li><li>Q01631</li><li>P23945</li><li>P47799</li>	<li>Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]</li><li>Ovarian dysgenesis 1 (ODG1) [MIM:233300]</li>	<li>rs6166</li><li>rs6167</li><li>rs28928870</li><li>rs28928871</li><li>rs6165</li>	2
P23946	1215	<ul><li>G->R at 46: in dbSNP:rs5246<li>H->R at 66: in dbSNP:rs5247<li>R->H at 98: in dbSNP:rs13306252</ul>									<li>rs13306252</li><li>rs5247</li><li>rs5246</li>	2
P23975	6530	<ul><li>N->K at 7: in dbSNP:rs11568323<li>V->I at 69: in dbSNP:rs1805064<li>T->I at 99: in dbSNP:rs1805065<li>V->I at 245: in dbSNP:rs1805066<li>T->R at 283: in dbSNP:rs45564432<li>N->T at 292: in dbSNP:rs5563<li>V->L at 356: in dbSNP:rs5565<li>A->P at 369: in dbSNP:rs5566<li>N->S at 375: in dbSNP:rs5567<li>V->I at 449: in dbSNP:rs2234910<li>A->P at 457: in OI; loss of function, MIM: 604715<li>K->R at 463: in dbSNP:rs5570, MIM: 604715<li>G->S at 478: in dbSNP:rs1805067, MIM: 604715<li>F->C at 528: in dbSNP:rs5558, MIM: 604715<li>Y->H at 548: in dbSNP:rs5559, MIM: 604715<li>I->T at 549: in dbSNP:rs3743788, MIM: 604715</ul>								Orthostatic intolerance (OI) [MIM:604715]	<li>rs2234910</li><li>rs5559</li><li>rs45564432</li><li>rs5558</li><li>rs5567</li><li>rs5566</li><li>rs5565</li><li>rs5563</li><li>rs5570</li><li>rs3743788</li><li>rs11568323</li><li>rs1805067</li><li>rs1805066</li><li>rs1805065</li><li>rs1805064</li>	2
P24001	9235	<ul><li>D->N at 152</ul>										2
P24043	3908	<ul><li>R->S at 96: in dbSNP:rs34626728<li>Y->H at 240: in dbSNP:rs3778142<li>C->Y at 527: in MDC1A, MIM: 607855<li>L->Q at 545, MIM: 607855<li>R->H at 619: in dbSNP:rs3816665, MIM: 607855<li>H->D at 644: in dbSNP:rs35879899, MIM: 607855<li>C->R at 862: in MDC1A, MIM: 607855<li>R->L at 919: in dbSNP:rs35277491, MIM: 607855<li>V->M at 1138: in dbSNP:rs2306942, MIM: 607855<li>P->A at 1160: in a breast cancer sample; somatic mutation, MIM: 607855<li>T->A at 1205: in dbSNP:rs35889149, MIM: 607855<li>K->Q at 1561: in dbSNP:rs4143752, MIM: 607855<li>A->T at 1945: in dbSNP:rs3828736, MIM: 607855<li>L->P at 2564: in MDC1A, MIM: 607855<li>Y->H at 2586, MIM: 607855<li>A->V at 2587: in dbSNP:rs6569605, MIM: 607855<li>E->K at 2614, MIM: 607855<li>T->A at 2636: in dbSNP:rs2244008, MIM: 607855<li>T->A at 3029: in dbSNP:rs34551216, MIM: 607855</ul>								Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	<li>rs6569605</li><li>rs35277491</li><li>rs35879899</li><li>rs3816665</li><li>rs3828736</li><li>rs2306942</li><li>rs4143752</li><li>rs3778142</li><li>rs2244008</li><li>rs34626728</li><li>rs35889149</li><li>rs34551216</li>	2
P24046	2569	<ul><li>M->V at 26: in dbSNP:rs12200969<li>H->R at 27: in dbSNP:rs1186902</ul>									<li>rs12200969</li><li>rs1186902</li>	2
P24071	2204	<ul><li>D->N at 113: in dbSNP:rs11666735<li>S->G at 269: in dbSNP:rs16986050</ul>									<li>rs16986050</li><li>rs11666735</li>	2
P24158	5657	<ul><li>V->I at 119: in dbSNP:rs351111<li>A->T at 135: in dbSNP:rs1042281<li>T->S at 136: in dbSNP:rs1042282</ul>									<li>rs1042281</li><li>rs1042282</li><li>rs351111</li>	2
P24298	2875	<ul><li>H->N at 14: in allele GPT*2; dbSNP:rs1063739</ul>							<li>P52892</li><li>P52893</li><li>P52894</li><li>P96000</li><li>Q10334</li><li>Q9H3H5</li><li>P39465</li><li>P42867</li><li>P42864</li><li>P13191</li><li>P42881</li><li>P07286</li><li>P24140</li><li>P34106</li><li>P23338</li><li>P24298</li>		rs1063739	2
P24347		<ul><li>V->A at 38: in dbSNP:rs738792<li>E->K at 44: in dbSNP:rs28363646<li>P->L at 61: in dbSNP:rs28363647<li>S->P at 86: in dbSNP:rs28363648<li>D->N at 166: in a colorectal cancer sample; somatic mutation<li>F->S at 182: in dbSNP:rs17854940</ul>									<li>rs28363647</li><li>rs28363648</li><li>rs738792</li><li>rs17854940</li><li>rs28363646</li>	2
P24386	1121	<ul><li>Q->L at 471: in CHM, MIM: 303100</ul>							<li>P24386</li><li>P52195</li>	Choroideremia (CHM) [MIM:303100]		2
P24394	3566	<ul><li>I->V at 75: associated with atopic asthma; dbSNP:rs1805010<li>S->L at 387: in dbSNP:rs6413500<li>E->A at 400: in dbSNP:rs1805011<li>C->R at 431: in dbSNP:rs1805012<li>S->L at 436: in dbSNP:rs1805013<li>A->T at 492: in dbSNP:rs35606110<li>A->V at 492: in dbSNP:rs34727572<li>S->P at 503: lowered total IgE concentration; dbSNP:rs1805015<li>Q->R at 576: associated with atopic dermatitis; lowered total IgE concentration; no effect on IL4-induced signal transduction; dbSNP:rs1801275<li>V->I at 579: in dbSNP:rs3024677<li>P->S at 675: in dbSNP:rs3024678<li>S->A at 752: in dbSNP:rs1805016<li>S->P at 786: in 1.8% of the population; dbSNP:rs1805014</ul>	transduction	GO:0009293					<li>Q9XS58</li><li>Q3S4V6</li><li>Q9MZR8</li><li>P47966</li><li>P55030</li><li>P42202</li><li>Q2PE74</li><li>Q60440</li><li>O77762</li><li>Q865X5</li><li>P79339</li><li>P51492</li><li>Q8HYB1</li><li>Q865Y0</li><li>Q7YS71</li><li>P05112</li><li>P79155</li><li>Q04745</li><li>P30367</li><li>P30368</li><li>P46652</li><li>P51744</li><li>Q58M18</li>		<li>rs35606110</li><li>rs1801275</li><li>rs34727572</li><li>rs3024678</li><li>rs3024677</li><li>rs1805012</li><li>rs1805013</li><li>rs6413500</li><li>rs1805014</li><li>rs1805015</li><li>rs1805010</li><li>rs1805011</li><li>rs1805016</li>	2
P24462	1551	<ul><li>R->T at 409: in dbSNP:rs2257401</ul>									rs2257401	2
P24530	1910	<ul><li>P->T at 5: in dbSNP:rs12720160<li>L->Q at 7: in dbSNP:rs5345<li>L->F at 17: in dbSNP:rs5346<li>G->S at 57: in HSCR2; sporadic; sex-dependent gene dosage effect; neuronal intestinal dysplasia; could be a polymorphism; dbSNP:rs1801710, MIM: 600155<li>R->M at 76: in dbSNP:rs2228271, MIM: 600155<li>F->V at 112: in dbSNP:rs5347, MIM: 600155<li>A->G at 183: in WS4, MIM: 277580<li>T->M at 244: in dbSNP:rs5350, MIM: 277580<li>W->C at 276: in HSCR2, MIM: 600155<li>F->L at 292: in WS4, MIM: 277580<li>S->N at 305: in HSCR2; familial; dbSNP:rs5352, MIM: 600155<li>R->W at 319: in HSCR2; sporadic, MIM: 600155<li>M->I at 374: in HSCR2, MIM: 600155<li>P->L at 383: in HSCR2; familial, MIM: 600155</ul>								<li>Waardenburg syndrome type IV (WS4) [MIM:277580]</li><li>Hirschsprung disease type 2 (HSCR2) [MIM:600155]</li>	<li>rs5350</li><li>rs1801710</li><li>rs2228271</li><li>rs5352</li><li>rs5347</li><li>rs5346</li><li>rs12720160</li><li>rs5345</li>	2
P24539	515	<ul><li>T->M at 152: in dbSNP:rs1264895<li>T->N at 152: in dbSNP:rs1264895</ul>									rs1264895	2
P24557	6916	<ul><li>R->H at 60: in allele CYP5A1*2; dbSNP:rs6138<li>L->P at 82: in GHDD, MIM: 231095<li>R->W at 85: in a breast cancer sample; somatic mutation, MIM: 231095<li>V->I at 124: in dbSNP rsrs8192833, MIM: 231095<li>D->E at 160: in allele CYP5A1*3; dbSNP:rs5768, MIM: 231095<li>L->I at 162: in dbSNP:rs6137, MIM: 231095<li>N->S at 245: in allele CYP5A1*4: in dbSNP rsrs55856189, MIM: 231095<li>K->E at 257: in dbSNP:rs5769, MIM: 231095<li>R->G at 260: in dbSNP:rs5770, MIM: 231095<li>Q->K at 316: in dbSNP:rs5771, MIM: 231095<li>I->T at 331: in dbSNP:rs6140, MIM: 231095<li>L->V at 356: in allele CYP5A1*5; dbSNP:rs4529, MIM: 231095<li>L->V at 357: in dbSNP:rs4529, MIM: 231095<li>E->K at 388: in dbSNP:rs3735354, MIM: 231095<li>G->V at 389: in dbSNP:rs5760, MIM: 231095<li>R->Q at 412: in GHDD, MIM: 231095<li>Q->E at 416: in allele CYP5A1*6; dbSNP:rs4528, MIM: 231095<li>R->C at 424: in dbSNP:rs5762, MIM: 231095<li>A->T at 429: in dbSNP:rs4526, MIM: 231095<li>E->K at 449: in allele CYP5A1*7: in dbSNP rsrs8192868, MIM: 231095<li>T->N at 450: in allele CYP5A1*8; dbSNP:rs5763, MIM: 231095<li>R->Q at 465: in allele CYP5A1*9: in dbSNP rsrs41311778, MIM: 231095<li>G->W at 481: in GHDD, MIM: 231095<li>L->P at 487: in GHDD, MIM: 231095<li>R->Q at 501: in dbSNP rsrs8192864, MIM: 231095<li>L->P at 512: in dbSNP:rs13306050, MIM: 231095</ul>							<li>Q2KIG5</li><li>P47787</li><li>P24557</li>	Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	<li>rs5768</li><li>rs4528</li><li>rs5769</li><li>rs4529</li><li>rs5763</li><li>rs8192833</li><li>rs6140</li><li>rs8192864</li><li>rs55856189</li><li>rs4526</li><li>rs8192868</li><li>rs6138</li><li>rs6137</li><li>rs41311778</li><li>rs5770</li><li>rs5762</li><li>rs5771</li><li>rs5760</li><li>rs3735354</li><li>rs13306050</li>	2
P24592	3489	<ul><li>R->G at 128: in dbSNP:rs9658616<li>R->L at 134: in dbSNP:rs34995393<li>R->L at 217: in dbSNP:rs6413498<li>R->Q at 217: in dbSNP rsrs6413498<li>T->P at 236: in dbSNP:rs1053134</ul>									<li>rs6413498</li><li>rs1053134</li><li>rs9658616</li><li>rs34995393</li>	2
P24593	3488	<ul><li>R->W at 138: in dbSNP:rs11575194</ul>									rs11575194	2
P24666	52	<ul><li>K->N at 7: in dbSNP:rs11691572<li>Q->R at 106: in allele ACP1*A: in dbSNP rsrs7576247<li>S->F at 137: in dbSNP:rs35569198</ul>							<li>Q5ZKG5</li><li>P32463</li><li>Q5REM7</li><li>P11064</li><li>P81693</li><li>P24666</li><li>P36184</li><li>P93092</li>		<li>rs7576247</li><li>rs11691572</li><li>rs35569198</li>	2
P24723	5583	<ul><li>A->V at 19: in dbSNP rsrs55645551<li>K->R at 65: in dbSNP rsrs55737090<li>R->Q at 149: in dbSNP rsrs55848048<li>R->Q at 359: in dbSNP rsrs55818778<li>V->I at 374: associated with susceptibility to ischemic stroke; increases autophosphorylation and kinase activity: in dbSNP rsrs2230500<li>T->A at 575: in a aLL TEL/AML1+ sample; somatic mutation<li>T->I at 594: in a colorectal adenocarcinoma sample; somatic mutation<li>P->S at 612: in dbSNP rsrs34159231<li>D->V at 645: in dbSNP:rs35561533</ul>	autophosphorylation	GO:0046777	kinase activity	GO:0016301			<li>P41212</li><li>Q01196</li>		<li>rs2230500</li><li>rs55645551</li><li>rs34159231</li><li>rs55848048</li><li>rs55818778</li><li>rs55737090</li><li>rs35561533</li>	2
P24752	38	<ul><li>A->P at 5: in dbSNP:rs3741056<li>Missing  at 85: in 3KTD<li>N->S at 93: in 3KTD; 10% activity, MIM: 203750<li>G->A at 152: in 3KTD, MIM: 203750<li>N->D at 158: in 3KTD; no activity, MIM: 203750<li>G->R at 183: in 3KTD; no activity, MIM: 203750<li>T->M at 297: in 3KTD; 10% normal activity, MIM: 203750<li>A->P at 301: in 3KTD; 5% normal activity, MIM: 203750<li>I->T at 312: in 3KTD; 10% activity, MIM: 203750<li>A->P at 333: in 3KTD; no activity, MIM: 203750<li>G->V at 379: in 3KTD, MIM: 203750<li>A->T at 380: in 3KTD; 7% normal activity, MIM: 203750</ul>								3-ketothiolase deficiency (3KTD) [MIM:203750]	rs3741056	2
P24821		<ul><li>Q->R at 539: in dbSNP:rs1757095<li>V->I at 605: in dbSNP:rs3827816<li>Q->R at 680: in dbSNP:rs1061494<li>A->T at 1781: in dbSNP:rs2274750<li>Q->E at 2008: in dbSNP:rs13321</ul>									<li>rs13321</li><li>rs1061494</li><li>rs1757095</li><li>rs2274750</li><li>rs3827816</li>	2
P24855	1773	<ul><li>R->S at 2: in dbSNP:rs8176927<li>Q->E at 31: in allele DNASE1*4<li>R->G at 107: in dbSNP:rs8176928<li>V->M at 114: in allele DNASE1*5<li>G->R at 127: in dbSNP:rs8176919<li>P->A at 154: in allele DNASE1*3; dbSNP:rs1799891<li>R->C at 207: in allele DNASE1*6<li>C->Y at 231: in dbSNP:rs8176940<li>R->Q at 244: in allele DNASE1*1; dbSNP:rs1053874<li>A->P at 246: in dbSNP:rs8176939<li>G->D at 262: in dbSNP:rs8176924</ul>							<li>Q9YGI5</li><li>Q4AEE3</li><li>P00639</li><li>P24855</li><li>P11936</li><li>Q767J3</li><li>P11937</li><li>O18998</li>		<li>rs8176919</li><li>rs8176940</li><li>rs8176928</li><li>rs8176939</li><li>rs8176927</li><li>rs8176924</li><li>rs1053874</li><li>rs1799891</li>	2
P24928	5430	<ul><li>R->C at 292: in dbSNP:rs2229198</ul>									rs2229198	2
P24941	1017	<ul><li>Y->S at 15: in dbSNP:rs3087335<li>V->L at 18: in dbSNP:rs11554376<li>P->L at 45: in a glioblastoma multiforme sample; somatic mutation<li>T->S at 290: in dbSNP:rs2069413</ul>									<li>rs3087335</li><li>rs2069413</li><li>rs11554376</li>	2
P25021	3274	<ul><li>N->D at 217<li>K->R at 231<li>V->M at 268</ul>										2
P25024	3577	<ul><li>M->R at 31: in dbSNP:rs16858811<li>R->C at 71: in dbSNP:rs1805038<li>M->L at 268: in dbSNP:rs9282752<li>S->T at 276: common polymorphism; dbSNP:rs2234671<li>A->T at 306<li>R->C at 335: in dbSNP:rs16858808<li>S->L at 342: in dbSNP:rs16858806</ul>									<li>rs16858806</li><li>rs16858808</li><li>rs9282752</li><li>rs1805038</li><li>rs16858811</li><li>rs2234671</li>	2
P25025	3579	<ul><li>R->C at 80: in dbSNP:rs1805038</ul>									rs1805038	2
P25054	324	<ul><li>R->W at 99: in FAP; could be a rare polymorphism, MIM: 175100<li>S->I at 171: in FAP, MIM: 175100<li>R->C at 414: in FAP, MIM: 175100<li>S->G at 722: in FAP, MIM: 175100<li>S->T at 784: in FAP, MIM: 175100<li>G->C at 817: in gastric cancer, MIM: 175100<li>P->S at 870: in dbSNP:rs33974176, MIM: 175100<li>I->T at 880: in colorectal carcinoma and gastric cancer; from a patient with Turcot syndrome, MIM: 175100<li>V->I at 890: in colorectal carcinoma; from a patient with Turcot syndrome, MIM: 175100<li>S->Y at 906: in colorectal tumor, MIM: 175100<li>E->G at 911: in FAP and colorectal tumor, MIM: 175100<li>N->D at 942: in gastric cancer, MIM: 175100<li>Y->C at 1027: in colorectal tumor, MIM: 175100<li>E->G at 1057: in non-FAP, MIM: 175100<li>N->D at 1118, MIM: 175100<li>G->E at 1120: in gastric cancer: in dbSNP rsrs28933379, MIM: 175100<li>R->C at 1171: in FAP; could be a polymorphism, MIM: 175100<li>R->H at 1171: in gastric cancer, MIM: 175100<li>P->L at 1176: in FAP, MIM: 175100<li>A->P at 1184: in FAP, MIM: 175100<li>F->S at 1197: in gastric cancer, MIM: 175100<li>I->F at 1254: in a colorectal cancer sample; somatic mutation, MIM: 175100<li>I->T at 1259: in gastric cancer, MIM: 175100<li>T->M at 1292, MIM: 175100<li>A->V at 1296: in MDB; sporadic, MIM: 155255<li>I->V at 1304, MIM: 155255<li>I->K at 1307: in 6% of Ashkenazi Jews; associated with slightly increased risk of colon and breast cancer; dbSNP:rs1801155, MIM: 155255<li>G->E at 1312: in gastric cancer, MIM: 155255<li>T->A at 1313: in FAP and colorectal tumor, MIM: 175100<li>E->Q at 1317: may contribute to colorectal tumor development; dbSNP:rs1801166, MIM: 175100<li>V->A at 1326: in gastric cancer, MIM: 175100<li>R->W at 1348: in FAP, MIM: 175100<li>D->H at 1422: in colorectal tumor, MIM: 175100<li>V->I at 1472: in MDB; sporadic, MIM: 155255<li>S->G at 1495: in MDB; sporadic, MIM: 155255<li>T->S at 1496: in dbSNP:rs2229996, MIM: 155255<li>A->V at 1508: in colorectal carcinoma from a patient with Turcot syndrome, MIM: 155255<li>V->D at 1822: in dbSNP:rs459552, MIM: 155255<li>R->T at 1882: in dbSNP:rs34157245, MIM: 155255<li>S->T at 1973: in dbSNP:rs4987109, MIM: 155255<li>V->L at 2499: in dbSNP:rs33941929, MIM: 155255<li>G->S at 2502: in dbSNP:rs2229995, MIM: 155255<li>S->C at 2621: in FAP, MIM: 175100<li>I->T at 2738: in FAP, MIM: 175100<li>L->F at 2839: in FAP, MIM: 175100</ul>	development	GO:0007275					<li>Q12884</li><li>Q92990</li><li>Q8BZM1</li>	<li>Medulloblastoma (MDB) [MIM:155255]</li><li>Familial adenomatous polyposis (FAP) [MIM:175100]</li>	<li>rs2229995</li><li>rs4987109</li><li>rs34157245</li><li>rs33941929</li><li>rs33974176</li><li>rs2229996</li><li>rs459552</li><li>rs28933379</li><li>rs1801155</li><li>rs1801166</li>	2
P25063		<ul><li>T->S at 44: in dbSNP:rs10465460<li>A->V at 57: increases the risk of MS in the general population; preferentially transmitted to MS-affected family members and resulted in more rapid progression to disability; dbSNP:rs8734</ul>									rs10465460	2
P25067	1296	<ul><li>G->R at 3<li>R->Q at 155: in FECD; identified as a polymorphism in the Japanese population, MIM: 136800<li>R->Q at 304: in FECD, MIM: 136800<li>G->R at 357: in FECD; uncertain pathogenicity, MIM: 136800<li>R->H at 434: in FECD, MIM: 136800<li>Q->K at 455: in FECD and PPCD2, MIM: 609140<li>T->M at 502, MIM: 609140<li>P->L at 575: in FECD; uncertain pathogenicity, MIM: 136800<li>T->I at 645, MIM: 136800</ul>								<li>Posterior polymorphous corneal dystrophy 2 (PPCD2) [MIM:609140]</li><li>Fuchs endothelial corneal dystrophy (FECD) [MIM:136800]</li>		2
P25092	2984	<ul><li>C->R at 30: in dbSNP rsrs56142849<li>G->R at 61: in a metastatic melanoma sample; somatic mutation<li>R->Q at 114: in dbSNP rsrs56275235<li>L->F at 281: in dbSNP:rs1420635<li>R->L at 464: in dbSNP rsrs55684775<li>E->K at 610: in dbSNP rsrs55897626<li>I->V at 859: in dbSNP rsrs34890806<li>Q->R at 1045: in dbSNP rsrs35617837<li>Y->C at 1072: in dbSNP rsrs35179392</ul>									<li>rs34890806</li><li>rs1420635</li><li>rs55684775</li><li>rs35617837</li><li>rs56275235</li><li>rs56142849</li><li>rs35179392</li><li>rs55897626</li>	2
P25098	156	<ul><li>I->T at 184: in dbSNP rsrs55696045<li>R->Q at 578: in a colorectal adenocarcinoma sample; somatic mutation</ul>									rs55696045	2
P25101	1909	<ul><li>I->L at 136: in a breast cancer sample; somatic mutation</ul>										2
P25103	6869	<ul><li>Y->H at 192: display properties similar to those of the wild-type receptor</ul>										2
P25105	5724	<ul><li>A->D at 224: in dbSNP:rs5938<li>N->S at 338: in dbSNP:rs5939</ul>									<li>rs5939</li><li>rs5938</li>	2
P25106	57007	<ul><li>L->W at 219: in dbSNP:rs10183641</ul>									rs10183641	2
P25116	2149	<ul><li>S->G at 166: in dbSNP:rs5893<li>Y->N at 187: in dbSNP:rs2230849<li>V->L at 257: in dbSNP:rs2227832<li>S->Y at 412: in dbSNP:rs2227799</ul>									<li>rs2227832</li><li>rs5893</li><li>rs2230849</li><li>rs2227799</li>	2
P25189	4359	<ul><li>I->M at 30: in CMT1B, MIM: 118200<li>V->F at 32: in CMT1B; severe, MIM: 118200<li>T->I at 34: in CMT1B, MIM: 118200<li>D->Y at 35: in CMTDID, MIM: 607791<li>H->P at 39: in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane, MIM: 118200<li>Missing  at 42: in DSS, MIM: 118200<li>S->F at 44: in CMT2I and CMT1B, MIM: 607677<li>Missing  at 50: in CMT1B, MIM: 607677<li>Missing  at 51-57: in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion, MIM: 607677<li>S->F at 51: in CMT1B, MIM: 118200<li>S->C at 54: in CMT1B; severe, MIM: 118200<li>S->P at 54: in CMT1B, MIM: 118200<li>E->K at 56: in CMT2, MIM: 118200<li>V->F at 58: in CMT1B; moderate, MIM: 118200<li>D->H at 60: in CMT2I, MIM: 607677<li>D->G at 61: in CMT2; unclassified, MIM: 607677<li>I->F at 62: in CMT1B, MIM: 118200<li>I->M at 62: in CMT2I, MIM: 607677<li>S->C at 63: in DSS, MIM: 145900<li>S->F at 63: in CMT1B, MIM: 118200<li>Missing  at 63: in CMT1B, MIM: 118200<li>Missing  at 64: in CMT1B and DSS, MIM: 118200<li>T->A at 65: in CMT1B, MIM: 118200<li>T->I at 65: in CMT1B, MIM: 118200<li>Y->C at 68: in CMT1B; severe/mild, MIM: 118200<li>D->V at 75: in CMT2J, MIM: 607736<li>S->L at 78: in CMT1B; severe, MIM: 118200<li>S->W at 78: in CMT1B, MIM: 118200<li>H->R at 81: in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane, MIM: 118200<li>H->Y at 81: in CMT; associated with F-113, MIM: 118200<li>Y->C at 82: in CMT1B and DSS, MIM: 145900<li>I->N at 89: in CMT2I; patient carrying also Met-92 and Met-162, MIM: 607677<li>D->E at 90: in CMT1B, MIM: 118200<li>V->M at 92: in CMT2I; patient carrying also Asn-89 and Met-162, MIM: 607677<li>G->E at 93: in CMT1B, MIM: 118200<li>K->E at 96: in CMT1B, MIM: 118200<li>E->V at 97: in CMT2J, MIM: 607736<li>R->C at 98: in CMT1B; severe and DSS, MIM: 118200<li>R->H at 98: in CMT1B, MIM: 118200<li>R->P at 98: in CMT1B, MIM: 118200<li>R->S at 98: in CMT1B, MIM: 118200<li>I->T at 99: in CMT1B, MIM: 118200<li>W->C at 101: in CMT1B, MIM: 118200<li>G->E at 103: in CMT1B, MIM: 118200<li>D->N at 109: in CMT1B, MIM: 118200<li>G->D at 110: in DSS, MIM: 145900<li>I->T at 112: in CMT1B; severe, MIM: 118200<li>V->F at 113: in CMT; unclassified; associated with Y-81, MIM: 118200<li>V->I at 113: in CMT2, MIM: 118200<li>I->T at 114: in DSS; associated on the same allele as His-116 and Asn-128 in one patient, MIM: 145900<li>N->H at 116: in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient, MIM: 145900<li>D->DFY at 118: in DSS, MIM: 145900<li>D->N at 118: in CMT2I, MIM: 607677<li>Y->C at 119: in CMT2; unclassified, MIM: 607677<li>N->S at 122: in CMT1B; loss of glycosylation site, MIM: 118200<li>G->C at 123: in DSS and CMT1B, MIM: 145900<li>Missing  at 124-125: in DSS, MIM: 145900<li>T->K at 124: in CHN, MIM: 605253<li>T->M at 124: in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation, MIM: 607736<li>C->Y at 127: in DSS, MIM: 145900<li>D->E at 128: in CMT1B, MIM: 118200<li>D->N at 128: in DSS; associated on the same allele as Thr-114 and His-116 in one patient, MIM: 145900<li>K->R at 130: in CMT1B and DSS, MIM: 145900<li>N->K at 131: in Roussy-Levy syndrome, MIM: 180800<li>P->L at 132: in CMT1B; moderate, MIM: 118200<li>D->E at 134: in CMT1B, MIM: 118200<li>D->G at 134: in CMT1B, MIM: 118200<li>D->N at 134: in CMT1B, MIM: 118200<li>I->L at 135: in CMT1B and DSS, MIM: 145900<li>I->T at 135: in CMT1B, MIM: 118200<li>V->E at 136: in DSS, MIM: 145900<li>G->S at 137: in CMT1B, MIM: 118200<li>K->N at 138: in CMT1B, MIM: 118200<li>T->N at 139: in CMT1B, MIM: 118200<li>S->T at 140: in CMT1B, MIM: 118200<li>T->M at 143: in CMT1B, MIM: 118200<li>Y->S at 145: in CMT1B, MIM: 118200<li>V->F at 146: in CMT1B, MIM: 118200<li>I->M at 162: in CMT2I; patient carrying also Asn-89 and Met-92, MIM: 607677<li>G->R at 163: in CMT1B, MIM: 118200<li>G->A at 167: in CMT1B and DSS; severe, MIM: 145900<li>G->R at 167: in DSS and CMT, MIM: 145900<li>L->R at 170: in CMT1B, MIM: 118200<li>T->ER at 216: in CMT1B; referred to as 'T216ER', MIM: 118200<li>A->T at 221: in DSS, MIM: 145900<li>D->Y at 224: in CMT1B; also in two asymptomatic individuals from the same family, MIM: 118200<li>R->S at 227: in CMT1B, MIM: 118200<li>K->E at 236: in CMT2I, MIM: 607677<li>Missing  at 236: in CMT1B, MIM: 607677<li>R->L at 244, MIM: 607677</ul>					cell membrane	GO:0005886	<li>Q94F87</li><li>P42286</li><li>Q6V3V8</li><li>P54420</li><li>P15882</li><li>Q15013</li><li>Q17QN0</li><li>O25424</li><li>Q9ZLB9</li><li>Q92570</li><li>Q6V3W0</li><li>P06608</li>	<li>Dejerine-Sottas syndrome (DSS) [MIM:145900]</li><li>Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]</li><li>Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]</li><li>Congenital hypomyelination neuropathy (CHN) [MIM:605253]</li><li>Roussy-Levy syndrome [MIM:180800]</li><li>Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791]</li><li>Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]</li>		2
P25205	4172	<ul><li>S->G at 105: in dbSNP:rs2307332<li>D->V at 280: in dbSNP:rs2307329<li>F->L at 287: in dbSNP:rs2307328<li>I->L at 590: in dbSNP:rs17240063<li>R->W at 774: in dbSNP:rs2230239<li>E->K at 777: in dbSNP:rs2230240</ul>									<li>rs2230240</li><li>rs2307332</li><li>rs2230239</li><li>rs2307329</li><li>rs17240063</li><li>rs2307328</li>	2
P25440	6046	<ul><li>G->E at 30: in a glioblastoma multiforme sample; somatic mutation<li>A->G at 49<li>A->S at 49: in dbSNP rsrs55669504<li>A->P at 212: in dbSNP rsrs35952031<li>L->F at 238: in dbSNP:rs176250<li>P->Q at 260: in dbSNP rsrs35294809<li>A->V at 474: in dbSNP:rs3918143<li>R->K at 547: in dbSNP:rs1049369<li>R->G at 558: in a gastric adenocarcinoma sample; somatic mutation<li>A->T at 569: in dbSNP rsrs34530779<li>A->P at 599: in dbSNP rsrs55952113<li>P->L at 714: in a glioblastoma multiforme sample; somatic mutation</ul>									<li>rs55952113</li><li>rs35294809</li><li>rs35952031</li><li>rs3918143</li><li>rs34530779</li><li>rs55669504</li><li>rs1049369</li><li>rs176250</li>	2
P25445	355	<ul><li>A->T at 16: in dbSNP:rs3218619<li>A->T at 25: in non-Hodgkin lymphoma; somatic mutation<li>T->A at 28: in ALPS1A; associated with autoimmune hepatitis type 2, MIM: 601859<li>C->R at 82: in ALPS1A, MIM: 601859<li>N->S at 118: in squamous cell carcinoma; burn-scar related; somatic mutation, MIM: 601859<li>R->W at 121: in ALPS1A, MIM: 601859<li>T->I at 122: in dbSNP:rs3218614, MIM: 601859<li>C->R at 178: in squamous cell carcinoma; burn-scar related; somatic mutation, MIM: 601859<li>L->F at 180: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859<li>P->L at 183: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859<li>I->V at 184: in dbSNP:rs28362322, MIM: 601859<li>T->I at 198: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859<li>Y->C at 232: in ALPS1A, MIM: 601859<li>T->K at 241: in ALPS1A, MIM: 601859<li>T->P at 241: in ALPS1A, MIM: 601859<li>R->P at 250: in ALPS1A, MIM: 601859<li>R->Q at 250: in ALPS1A, MIM: 601859<li>N->D at 255: in squamous cell carcinoma; burn-scar related; somatic mutation, MIM: 601859<li>A->D at 257: in ALPS1A, MIM: 601859<li>D->G at 260: in ALPS1A, MIM: 601859<li>D->V at 260: in ALPS1A and non-Hodgkin lymphoma; somatic mutation: in dbSNP rsrs28929498, MIM: 601859<li>D->Y at 260: in ALPS1A, MIM: 601859<li>N->K at 264: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859<li>T->I at 270: in ALPS1A, MIM: 601859<li>E->G at 272: in ALPS1A, MIM: 601859<li>E->K at 272: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859<li>L->F at 278: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859<li>K->N at 299: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859<li>T->I at 305: in dbSNP:rs3218611, MIM: 601859<li>I->S at 310: in ALPS1A, MIM: 601859</ul>								Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	<li>rs3218611</li><li>rs28362322</li><li>rs3218619</li><li>rs28929498</li><li>rs3218614</li>	2
P25686	3300	<ul><li>G->R at 270: in dbSNP:rs34127289</ul>									rs34127289	2
P25705	498	<ul><li>A->S at 32: in dbSNP:rs2228437<li>I->V at 223: in dbSNP:rs2228436</ul>									<li>rs2228437</li><li>rs2228436</li>	2
P25774	1520	<ul><li>R->W at 113: in dbSNP:rs2230061<li>S->T at 161: in dbSNP:rs1059604</ul>									<li>rs2230061</li><li>rs1059604</li>	2
P25787	5683	<ul><li>L->V at 110: in a colorectal cancer sample; somatic mutation</ul>										2
P25874	7350	<ul><li>A->T at 64: in dbSNP rsrs45539933<li>M->L at 229: in dbSNP:rs2270565</ul>									<li>rs2270565</li><li>rs45539933</li>	2
P25929	4886	<ul><li>K->T at 374: in dbSNP:rs5578</ul>									rs5578	2
P25940	50509	<ul><li>R->H at 134: in dbSNP:rs2303098<li>R->P at 1207: in dbSNP:rs2287813<li>V->M at 1428: in dbSNP:rs3815746<li>I->M at 1594: in dbSNP:rs3745581<li>V->I at 1691: in dbSNP:rs2277969</ul>									<li>rs3815746</li><li>rs2303098</li><li>rs2277969</li><li>rs3745581</li><li>rs2287813</li>	2
P25942	958	<ul><li>C->Q at 26: in bladder carcinoma cell line Hu549; requires 2 nucleotide substitutions<li>S->G at 35: in bladder carcinoma cell line Hu549<li>S->T at 39: in bladder carcinoma cell line Hu549<li>C->R at 83: in HIGM3: in dbSNP rsrs28931586, MIM: 606843<li>S->L at 124: in dbSNP:rs11569321, MIM: 606843<li>P->A at 227: in dbSNP:rs11086998, MIM: 606843</ul>								Hyper-IgM immunodeficiency type 3 (HIGM3) [MIM:606843]	<li>rs28931586</li><li>rs11569321</li><li>rs11086998</li>	2
P25963	4792	<ul><li>S->I at 32: in ADEDAID: in dbSNP rsrs28933100, MIM: 612132</ul>								Ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]	rs28933100	2
P26010	3695	<ul><li>H->Y at 672: in dbSNP:rs11539433</ul>									rs11539433	2
P26012	3696	<ul><li>S->F at 552: in dbSNP:rs5002476</ul>									rs5002476	2
P26022	5806	<ul><li>H->Q at 39: in dbSNP:rs34655398<li>D->A at 48: in dbSNP:rs3816527<li>A->V at 290: in dbSNP:rs35415718<li>E->K at 313: in dbSNP:rs4478039</ul>									<li>rs35415718</li><li>rs3816527</li><li>rs34655398</li><li>rs4478039</li>	2
P26358	1786	<ul><li>H->R at 97: in dbSNP:rs16999593<li>I->V at 311: in dbSNP:rs2228612</ul>									<li>rs16999593</li><li>rs2228612</li>	2
P26367	5080	<ul><li>N->S at 17: in AN2, MIM: 106210<li>G->W at 18: in AN2 and Peters anomaly, MIM: 604229<li>R->P at 19: in AN2, MIM: 106210<li>Missing  at 22-26: in AN2; sporadic form, MIM: 106210<li>R->G at 26: in Peters anomaly, MIM: 604229<li>I->S at 29: in AN2; sporadic form, MIM: 106210<li>I->V at 29: in AN2, MIM: 106210<li>A->P at 33: in AN2; sporadic form, MIM: 106210<li>Missing  at 37-39: in AN2; sporadic form, MIM: 106210<li>I->S at 42: in AN2; mild, MIM: 106210<li>S->P at 43: in AN2; sporadic form, MIM: 106210<li>R->Q at 44: in AN2, MIM: 106210<li>L->R at 46: in AN2; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein, MIM: 106210<li>C->R at 52: in AN2; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein, MIM: 106210<li>V->D at 53: in Peters anomaly, congenital cataract and foveal hypoplasia; Japanese pedigrees, MIM: 604229<li>V->L at 53: in AN2; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein, MIM: 106210<li>I->T at 56: in AN2; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation, MIM: 106210<li>T->P at 63: in AN2; mild, MIM: 106210<li>G->V at 64: in foveal hypoplasia; associated with presenile cataract syndrome, MIM: 136520<li>P->S at 68: in morning glory disk anomaly; significant impairment of transcriptional activation ability, MIM: 136520<li>G->D at 73: in AN2; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein, MIM: 106210<li>A->E at 79: in AN2; mild, MIM: 106210<li>I->K at 87: in AN2, MIM: 106210<li>I->R at 87: in AN2; loss of activity, MIM: 106210<li>P->R at 118: in nystagmus; associated with a variant form of aniridia, MIM: 106210<li>S->R at 119: in AN2; sporadic form, MIM: 106210<li>R->C at 125: in foveal hypoplasia; isolated, MIM: 136520<li>V->D at 126: in ectopia pupillae, MIM: 129750<li>R->C at 128: in foveal hypoplasia; isolated, MIM: 136520<li>Q->H at 178: in AN2, MIM: 106210<li>R->Q at 208: in AN2; mild, MIM: 106210<li>R->W at 208: in AN2, MIM: 106210<li>R->T at 242: in AN2; the mutant homeodomain binds DNA as well as the wild-type homeodomain; the mutant does not modify the DNA-binding properties of the paired domain; the steady-state levels of the full length mutant protein are higher than those of the wild-type one; a responsive promoter is activated to a higher extend by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion, MIM: 106210<li>F->S at 258: in ocular coloboma; significant impairment of transcriptional activation ability, MIM: 120200<li>S->I at 292: in bilateral optic nerve hypoplasia; significant impairment of transcriptional activation ability, MIM: 165550<li>A->T at 321: shows about two-fold higher binding efficiency than the normal wild-type protein; transcriptional activation ability is about 89% of that of the wild-type protein, MIM: 165550<li>S->A at 353: in AN2; familial form, MIM: 106210<li>S->P at 363: in Peters anomaly, MIM: 604229<li>P->Q at 375: in AN2; reduced DNA binding ability, MIM: 106210<li>Q->R at 378: in optic nerve aplasia, MIM: 106210<li>M->V at 381: in bilateral optic nerve hypoplasia, MIM: 165550<li>G->D at 387, MIM: 165550<li>T->A at 391: in bilateral optic nerve aplasia, MIM: 165550<li>Q->R at 422: in AN2 and ocular anterior segment anomalies; loss of DNA binding ability, MIM: 106210</ul>	digestion	GO:0007586	<li>binding</li><li>DNA-binding</li>	<li>GO:0005488</li><li>GO:0003677</li>			<li>P24664</li><li>Q59149</li><li>P81916</li><li>P26367</li><li>P35050</li><li>P23916</li><li>P83348</li>	<li>Peters anomaly [MIM:604229]</li><li>Ocular coloboma [MIM:120200]</li><li>Foveal hypoplasia [MIM:136520]</li><li>Bilateral optic nerve hypoplasia [MIM:165550]</li><li>Ectopia pupillae [MIM:129750]</li><li>Aniridia type II (AN2) [MIM:106210]</li>		2
P26371	3846	<ul><li>G->R at 8: in dbSNP:rs34213141<li>Y->C at 40: in dbSNP:rs10792769</ul>									<li>rs10792769</li><li>rs34213141</li>	2
P26373	6137	<ul><li>A->T at 112: in dbSNP:rs9930567<li>T->P at 170: in dbSNP:rs16965839</ul>									<li>rs16965839</li><li>rs9930567</li>	2
P26378	1996	<ul><li>P->S at 270: in dbSNP:rs2494876</ul>									rs2494876	2
P26436	56	<ul><li>G->R at 126: in dbSNP:rs34788353</ul>									rs34788353	2
P26439	3284	<ul><li>A->E at 10: in AH2; activity abolished: in dbSNP rsrs28934880, MIM: 201810<li>A->V at 10: in AH2; nonsalt-wasting form, MIM: 201810<li>G->D at 15: in AH2; activity abolished, MIM: 201810<li>D->N at 74: in dbSNP:rs4986954, MIM: 201810<li>A->T at 82: in AH2, MIM: 201810<li>E->Q at 94: in dbSNP:rs6211, MIM: 201810<li>N->S at 100: in AH2; nonsalt-wasting form, MIM: 201810<li>L->W at 108: in AH2; activity abolished, MIM: 201810<li>G->R at 129: in AH2; nonsalt-wasting form, MIM: 201810<li>E->K at 142: in AH2; activity abolished, MIM: 201810<li>P->L at 155: in AH2; nonsalt-wasting form, MIM: 201810<li>A->V at 167: in AH2; late onset; almost normal activity: in dbSNP rsrs35486059, MIM: 201810<li>L->R at 173: in AH2; nonsalt-wasting form, MIM: 201810<li>P->L at 186: in AH2; activity abolished, MIM: 201810<li>L->P at 205: in AH2, MIM: 201810<li>S->G at 213: in AH2; late onset; partial loss of activity, MIM: 201810<li>K->E at 216: in AH2; late onset; partial loss of activity, MIM: 201810<li>P->H at 222: in AH2; nonsalt-wasting form; activity abolished, MIM: 201810<li>P->Q at 222: in AH2; activity abolished, MIM: 201810<li>P->T at 222: in AH2, MIM: 201810<li>Missing  at 231-238: in AH2; activity abolished, MIM: 201810<li>L->S at 236: in AH2; mild; 100% of activity; dbSNP:rs35887327, MIM: 201810<li>A->P at 245: in AH2; loss of 88% of activity, MIM: 201810<li>Y->N at 253: in AH2; activity abolished, MIM: 201810<li>Y->D at 254: in AH2; activity abolished, MIM: 201810<li>T->M at 259: in AH2; activity abolished, MIM: 201810<li>T->R at 259: in AH2; activity abolished, MIM: 201810<li>G->V at 294: in AH2; nonsalt-wasting form; activity abolished, MIM: 201810</ul>								Adrenal hyperplasia type 2 (AH2) [MIM:201810]	<li>rs6211</li><li>rs35486059</li><li>rs35887327</li><li>rs28934880</li><li>rs4986954</li>	2
P26440	3712	<ul><li>L->P at 42: in IVA, MIM: 243500<li>R->P at 50: in IVA, MIM: 243500<li>D->N at 69: in IVA, MIM: 243500<li>G->V at 199: in IVA, MIM: 243500<li>A->V at 311: in IVA: in dbSNP rsrs28940889, MIM: 243500<li>C->R at 357: in IVA, MIM: 243500<li>V->A at 371: in IVA, MIM: 243500<li>R->C at 392: in IVA, MIM: 243500<li>R->L at 411: in IVA, MIM: 243500</ul>								Isovaleric acidemia (IVA) [MIM:243500]	rs28940889	2
P26441	1270	<ul><li>N->S at 49: in dbSNP:rs17152779<li>H->R at 182: in dbSNP:rs6266</ul>									<li>rs6266</li><li>rs17152779</li>	2
P26442		<ul><li>I->V at 181: in dbSNP:rs4924</ul>									rs4924	2
P26572	4245	<ul><li>R->Q at 223: in dbSNP:rs7726005<li>P->L at 435: in dbSNP:rs634501</ul>									<li>rs7726005</li><li>rs634501</li>	2
P26639	6897	<ul><li>G->D at 21: in dbSNP:rs34334786</ul>									rs34334786	2
P26640	7407	<ul><li>P->R at 51: in dbSNP:rs2607015<li>R->C at 181: in dbSNP:rs35196751<li>P->S at 626: in dbSNP:rs11531<li>P->L at 1008: in dbSNP:rs1076827</ul>									<li>rs2607015</li><li>rs1076827</li><li>rs35196751</li><li>rs11531</li>	2
P26651	7538	<ul><li>P->S at 37: in dbSNP:rs17878633<li>P->S at 55: in dbSNP:rs2229272<li>I->F at 259: in dbSNP rsrs17886974<li>V->F at 324: in dbSNP rsrs17884899</ul>									<li>rs17886974</li><li>rs17878633</li><li>rs17884899</li><li>rs2229272</li>	2
P26678	5350	<ul><li>R->C at 9: in CMD1P; impairs phosphorylation by PKA, MIM: 609909<li>Missing  at 14: in CMD1P; destabilizes the homopentamer, MIM: 609909</ul>	phosphorylation	GO:0016310	PKA	GO:0004691				Cardiomyopathy dilated type 1P (CMD1P) [MIM:609909]		2
P26715	3821	<ul><li>S->N at 29: in dbSNP:rs2253849</ul>									rs2253849	2
P26717	3822	<ul><li>S->N at 2: in allele NKG2-C*02: in dbSNP rsrs28403159<li>S->F at 102: in allele NKG2-C*02</ul>									rs28403159	2
P26718	22914	<ul><li>A->T at 72: in allele NKG2-D*02; dbSNP:rs2255336<li>N->S at 177: in dbSNP:rs2306182</ul>									<li>rs2255336</li><li>rs2306182</li>	2
P26842	939	<ul><li>A->T at 59: in dbSNP:rs25680<li>R->H at 233: in dbSNP:rs2532502</ul>									<li>rs2532502</li><li>rs25680</li>	2
P26885	2286	<ul><li>R->Q at 7: in dbSNP:rs4672<li>TA->S at 21-22<li>A->T at 25<li>C->Y at 97</ul>									rs4672	2
P26927	4485	<ul><li>C->Y at 13<li>C->F at 212<li>E->K at 676: in dbSNP:rs7798</ul>									rs7798	2
P26951	3563	<ul><li>A->T at 12: in dbSNP:rs6647004<li>E->G at 77: in dbSNP:rs17886756<li>S->T at 123: in dbSNP:rs17883572<li>V->L at 323: in dbSNP:rs17883366</ul>									<li>rs17886756</li><li>rs6647004</li><li>rs17883366</li><li>rs17883572</li>	2
P26998		<ul><li>R->Q at 105: in dbSNP:rs17670506<li>D->H at 113: in dbSNP:rs9608378<li>V->I at 159: in dbSNP:rs4455261<li>G->R at 165: in CATCN2, MIM: 609741</ul>								Autosomal recessive congenital nuclear cataract 2 (CATCN2) [MIM:609741]	<li>rs4455261</li><li>rs9608378</li><li>rs17670506</li>	2
P27037	92	<ul><li>S->R at 258: in dbSNP rsrs34917571<li>D->N at 306: in a gastric adenocarcinoma sample; somatic mutation</ul>									rs34917571	2
P27169	5444	<ul><li>M->L at 55: associated with susceptibility to diabetic retinopathy; dbSNP:rs854560<li>I->V at 102: polymorphism associated with decreased activity that seems to be associated with an increased risk for prostate cancer<li>R->G at 160: in dbSNP:rs13306698<li>Q->R at 192: polymorphism important for activity; dbSNP:rs662</ul>									<li>rs13306698</li><li>rs662</li><li>rs854560</li>	2
P27352	2694	<ul><li>Q->R at 23: in IFD; could be a polymorphism; dbSNP:rs35211634, MIM: 261000<li>S->L at 46: in IFD, MIM: 261000<li>G->R at 65: in dbSNP:rs11825834, MIM: 261000<li>N->S at 255: in dbSNP:rs35867471, MIM: 261000</ul>								Hereditary intrinsic factor deficiency (IFD) [MIM:261000]	<li>rs35211634</li><li>rs35867471</li><li>rs11825834</li>	2
P27361	5595	<ul><li>E->K at 323: in dbSNP rsrs55859133</ul>									rs55859133	2
P27448	4140	<ul><li>V->A at 452<li>S->G at 466</ul>										2
P27539	2657	<ul><li>A->V at 118: in dbSNP:rs4808863</ul>									rs4808863	2
P27540	405	<ul><li>R->Q at 430: in dbSNP:rs2229175<li>E->K at 435: in dbSNP:rs2229176<li>D->N at 511: in dbSNP:rs1805133<li>D->E at 517: in dbSNP:rs10305741<li>P->L at 706: in dbSNP:rs2275237</ul>									<li>rs10305741</li><li>rs2229176</li><li>rs1805133</li><li>rs2275237</li><li>rs2229175</li>	2
P27635	6134	<ul><li>N->S at 202: in dbSNP:rs4909 and dbSNP:rs12012747<li>L->M at 206: in Autism<li>H->Q at 213: in Autism</ul>									rs4909 and dbSNP:rs12012747	2
P27694	6117	<ul><li>T->A at 351: in dbSNP:rs5030755</ul>									rs5030755	2
P27695	328	<ul><li>Q->H at 51: in dbSNP:rs1048945<li>I->V at 64: in dbSNP:rs2307486<li>D->E at 148: in dbSNP:rs1130409</ul>									<li>rs1048945</li><li>rs1130409</li><li>rs2307486</li>	2
P27701	3732	<ul><li>I->V at 241: in dbSNP:rs1139971</ul>									rs1139971	2
P27708	790	<ul><li>R->Q at 177: in a colorectal cancer sample; somatic mutation<li>Y->C at 735: in a colorectal cancer sample; somatic mutation</ul>										2
P27816	4134	<ul><li>R->Q at 23: in dbSNP:rs11711953<li>P->L at 366: in dbSNP:rs13097415<li>S->P at 367: in dbSNP:rs13096947<li>D->G at 409: in dbSNP:rs13076542<li>S->Y at 427: in dbSNP:rs1060407<li>E->Q at 441: in dbSNP:rs2230169<li>I->V at 628: in dbSNP:rs1137524<li>I->V at 994: in dbSNP:rs35736893</ul>									<li>rs1137524</li><li>rs13076542</li><li>rs13096947</li><li>rs2230169</li><li>rs13097415</li><li>rs11711953</li><li>rs35736893</li><li>rs1060407</li>	2
P27918	5199	<ul><li>T->I at 3: in a breast cancer sample; somatic mutation<li>V->M at 53: in dbSNP:rs8177068<li>R->W at 100: in PFD; type II, MIM: 312060<li>P->L at 204: in dbSNP:rs8177076, MIM: 312060<li>G->S at 250: in dbSNP:rs8177077, MIM: 312060<li>G->V at 298: in PFD; type I: in dbSNP rsrs28935480, MIM: 312060<li>Q->R at 343: in PFD; type II, MIM: 312060<li>Y->D at 414: in PFD; type III, MIM: 312060</ul>								Properdin deficiency (PFD) [MIM:312060]	<li>rs8177076</li><li>rs8177077</li><li>rs8177068</li><li>rs28935480</li>	2
P27930	7850	<ul><li>E->K at 181: in dbSNP rsrs28385682<li>E->K at 292: in dbSNP:rs3218976</ul>									<li>rs3218976</li><li>rs28385682</li>	2
P27986	5295	<ul><li>M->I at 326: in dbSNP:rs3730089<li>R->Q at 409: in severe insulin resistance; reduction of insulin-stimulated activity<li>E->K at 451: in dbSNP:rs17852841</ul>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		<li>rs17852841</li><li>rs3730089</li>	2
P27987	3707	<ul><li>A->T at 322: in dbSNP:rs3754413<li>S->A at 408: in dbSNP:rs6667260<li>P->Q at 552: in dbSNP:rs708776</ul>									<li>rs6667260</li><li>rs3754413</li><li>rs708776</li>	2
P28039	313	<ul><li>D->N at 28: in dbSNP:rs11976480<li>A->T at 166: in dbSNP:rs3735384<li>A->G at 266: in dbSNP:rs3735386</ul>									<li>rs11976480</li><li>rs3735384</li><li>rs3735386</li>	2
P28062	5696	<ul><li>G->R at 8: in LMP7C<li>PGH->RPD at 30-32: in LPM7C</ul>										2
P28065	5698	<ul><li>G->E at 9: in dbSNP:rs35100697<li>V->I at 32: in dbSNP:rs241419<li>R->H at 60: in dbSNP:rs17587<li>R->C at 173: in dbSNP:rs17213861</ul>									<li>rs241419</li><li>rs17213861</li><li>rs35100697</li><li>rs17587</li>	2
P28067		<ul><li>H->Q at 162: in allele DMA*0103 and allele DMA*0104<li>D->H at 163: in allele DMA*0103 and allele DMA*0104<li>V->I at 166: in allele DMA*0102 and allele DMA*0104<li>G->A at 181: in allele DMA*0103<li>R->C at 210: in allele DMA*0104<li>R->H at 210: in allele DMA*0103</ul>							P28067			2
P28068	3109	<ul><li>T->A at 28: in dbSNP:rs17583782<li>S->F at 45: in allele DMB*0106: in dbSNP rsrs41560814<li>D->V at 49: in dbSNP:rs17617333<li>S->N at 71: in dbSNP:rs17617321<li>A->E at 162: in allele DMB*0102 and allele DMB*0106: in dbSNP rsrs2071555<li>A->V at 162: in allele DMB*0104 and allele DMB*0105: in dbSNP rsrs2071555<li>I->T at 197: in allele DMB*0103, allele DMB*0104 and allele DMB*0106; dbSNP:rs1042337</ul>							P28068		<li>rs1042337</li><li>rs2071555</li><li>rs41560814</li><li>rs17583782</li><li>rs17617333</li><li>rs17617321</li>	2
P28069	5449	<ul><li>Q->R at 4: in dbSNP:rs1051612<li>A->V at 19: in dbSNP:rs35182189<li>P->L at 24: in CPHD, MIM: 173110<li>F->C at 135: in CPHD, MIM: 173110<li>R->Q at 143: in CPHD, MIM: 173110<li>A->P at 158: in CPHD, MIM: 173110<li>E->G at 174: in CPHD, MIM: 173110<li>W->R at 193: in CPHD, MIM: 173110<li>D->Y at 227: in dbSNP rsrs1131815, MIM: 173110<li>P->S at 239: in CPHD; loss of function, MIM: 173110<li>R->W at 271: in CPHD, MIM: 173110</ul>								Familial combined pituitary hormone deficiency (CPHD) [MIM:173110]	<li>rs1131815</li><li>rs35182189</li><li>rs1051612</li>	2
P28070	5692	<ul><li>M->I at 95: in dbSNP:rs1804241<li>I->T at 234: in dbSNP:rs4603</ul>									<li>rs4603</li><li>rs1804241</li>	2
P28072	5694	<ul><li>P->A at 107: in dbSNP:rs2304974</ul>									rs2304974	2
P28074	5693	<ul><li>R->C at 24: in dbSNP:rs11543947</ul>									rs11543947	2
P28161	2946	<ul><li>S->N at 173: in dbSNP:rs2229050</ul>									rs2229050	2
P28221	3352	<ul><li>S->L at 265: in dbSNP:rs6299</ul>									rs6299	2
P28222	3351	<ul><li>F->C at 124: in dbSNP:rs130060<li>F->L at 219: in dbSNP:rs130061<li>I->V at 367: in dbSNP:rs130063<li>E->K at 374: in dbSNP:rs130064</ul>									<li>rs130064</li><li>rs130063</li><li>rs130060</li><li>rs130061</li>	2
P28223	3356	<ul><li>T->N at 25: in dbSNP:rs1805055<li>I->V at 197: in dbSNP:rs6304<li>A->V at 447: in dbSNP:rs6308<li>H->Y at 452: in dbSNP:rs6314</ul>									<li>rs6314</li><li>rs6304</li><li>rs1805055</li><li>rs6308</li>	2
P28288	5825	<ul><li>G->D at 17: in ZWS-2, MIM: 170995</ul>								Zellweger syndrome type 2 (ZWS-2) [MIM:170995]		2
P28290	6744	<ul><li>R->W at 833: in dbSNP:rs13419020<li>P->L at 836: in dbSNP:rs17647806</ul>									<li>rs17647806</li><li>rs13419020</li>	2
P28300	4015	<ul><li>R->Q at 158: in dbSNP:rs1800449</ul>									rs1800449	2
P28325	1473	<ul><li>C->R at 46: in 45% of the population; dbSNP:rs1799841</ul>									rs1799841	2
P28328	5828	<ul><li>E->K at 55: in IRD, MIM: 266510</ul>								Infantile Refsum disease (IRD) [MIM:266510]		2
P28329	1103	<ul><li>D->E at 47: in dbSNP:rs3810948<li>A->T at 120: in dbSNP:rs3810950<li>L->P at 210: in CMSEA; impaired activity: in dbSNP rsrs28930071, MIM: 254210<li>P->A at 211: in CMSEA; impaired activity, MIM: 254210<li>R->P at 222: in dbSNP:rs8178989, MIM: 254210<li>L->F at 243: in dbSNP:rs8178990, MIM: 254210<li>P->L at 299: in dbSNP:rs868749, MIM: 254210<li>I->T at 305: in CMSEA; impaired activity: in dbSNP rsrs28929482, MIM: 254210<li>I->T at 336: in CMSEA, MIM: 254210<li>A->G at 392, MIM: 254210<li>D->N at 400: in dbSNP:rs8178991, MIM: 254210<li>R->C at 420: in CMSEA; impaired activity, MIM: 254210<li>E->K at 441: in CMSEA; completely lack activity: in dbSNP rsrs28930070, MIM: 254210<li>M->V at 461: in dbSNP:rs4838544, MIM: 254210<li>R->G at 482: in CMSEA; impaired activity: in dbSNP rsrs28929481, MIM: 254210<li>S->L at 498: in CMSEA; impaired activity, MIM: 254210<li>V->L at 506: in CMSEA; impaired activity, MIM: 254210<li>R->H at 560: in CMSEA; impaired activity, MIM: 254210</ul>								Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	<li>rs3810950</li><li>rs8178991</li><li>rs3810948</li><li>rs8178990</li><li>rs28929481</li><li>rs28929482</li><li>rs4838544</li><li>rs8178989</li><li>rs28930071</li><li>rs28930070</li><li>rs868749</li>	2
P28330	33	<ul><li>S->T at 303: in dbSNP:rs1801204<li>K->Q at 333: in dbSNP:rs2286963</ul>									<li>rs2286963</li><li>rs1801204</li>	2
P28331	4719	<ul><li>R->Q at 241: in dbSNP:rs17856901<li>R->W at 241: in complex I deficiency<li>D->G at 252: in complex I deficiency<li>V->F at 649: in dbSNP:rs1044049</ul>							Q07842		<li>rs1044049</li><li>rs17856901</li>	2
P28332	130	<ul><li>C->G at 102: in dbSNP:rs28720152<li>I->V at 114: in dbSNP:rs28720153<li>T->P at 151: in dbSNP:rs34582580</ul>									<li>rs28720152</li><li>rs28720153</li><li>rs34582580</li>	2
P28335	3358	<ul><li>C->S at 23: in dbSNP:rs6318<li>I->V at 156: in RNA edited version<li>N->S at 158: in RNA edited version<li>I->V at 160: in RNA edited version</ul>									rs6318	2
P28336	4829	<ul><li>L->M at 390: in dbSNP:rs7453944</ul>									rs7453944	2
P28340	5424	<ul><li>R->W at 5: in dbSNP:rs9282830<li>R->H at 19: in dbSNP:rs3218773<li>G->C at 21: in dbSNP:rs9282831<li>R->W at 30: in dbSNP:rs3218772<li>R->H at 119: in dbSNP:rs1726801<li>S->N at 173: in dbSNP:rs1726803<li>R->H at 177: in dbSNP:rs3218750<li>P->L at 347: in dbSNP:rs2230243<li>R->H at 849: in dbSNP:rs3218775<li>R->Q at 1086: in dbSNP:rs3219457</ul>									<li>rs1726803</li><li>rs3218773</li><li>rs3218775</li><li>rs2230243</li><li>rs3218750</li><li>rs3218772</li><li>rs9282831</li><li>rs9282830</li><li>rs3219457</li><li>rs1726801</li>	2
P28347		<ul><li>Y->H at 421: in SCRA; dbSNP:rs11567847, MIM: 108985</ul>								Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]		2
P28356	3235	<ul><li>Missing at 259</ul>										2
P28358	3236	<ul><li>M->K at 319: in CVT; also in Charcot-Marie-Tooth disease-like foot deformities, MIM: 192950</ul>								Congenital vertical talus (CVT) [MIM:192950]		2
P28360	4487	<ul><li>M->K at 61: in HYD1, MIM: 106600<li>E->V at 78: in OFC5; unilateral, bilateral cleft palate and cleft palate only; Filipino poulation, MIM: 608874<li>G->D at 91: in OFC5; cleft palate only; Filipino population, MIM: 608874<li>V->G at 114: in OFC5; cleft palate only; Danish population, MIM: 608874<li>G->E at 116: in OFC5; bilateral cleft palate; Uruguayan population, MIM: 608874<li>R->S at 151: in OFC5; unilateral cleft palate; Japanese population, MIM: 608874<li>R->P at 196: in HYD1; severely impairs DNA-binding, MIM: 106600</ul>			DNA-binding	GO:0003677			<li>P0ACD8</li><li>Q83RW9</li><li>P0ACD9</li><li>P69740</li><li>P69739</li><li>Q46046</li><li>Q46045</li>	<li>Autosomal dominant hypodontia (HYD1) [MIM:106600]</li><li>Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]</li>		2
P28370	6594	<ul><li>Q->R at 656: in dbSNP:rs1134838</ul>									rs1134838	2
P28472	2562	<ul><li>G->R at 32: in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type, MIM: 612269<li>Q->L at 173: in dbSNP:rs17850679, MIM: 612269<li>R->H at 217: in insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA, MIM: 612269</ul>								Childhood absence epilepsy type 5 (ECA5) [MIM:612269]	rs17850679	2
P28562	1843	<ul><li>A->T at 56: in dbSNP rsrs34013988<li>Y->H at 187: in dbSNP:rs34471628</ul>									<li>rs34471628</li><li>rs34013988</li>	2
P28566	3354	<ul><li>A->T at 208: in dbSNP:rs3828741<li>S->F at 262: in dbSNP:rs6303</ul>									<li>rs3828741</li><li>rs6303</li>	2
P28676	25801	<ul><li>S->A at 80: in dbSNP:rs17783344</ul>									rs17783344	2
P28698	7593	<ul><li>R->H at 51: in dbSNP:rs3752109<li>R->H at 103: in dbSNP:rs3752110<li>R->Q at 130: in dbSNP:rs3752111<li>I->V at 331: in dbSNP:rs4756<li>R->P at 441: in dbSNP:rs2229255</ul>									<li>rs2229255</li><li>rs3752109</li><li>rs4756</li><li>rs3752111</li><li>rs3752110</li>	2
P28715	2073	<ul><li>P->H at 72: in XP-G; combined with features of Cockayne syndrome, MIM: 278780<li>V->I at 145: in dbSNP:rs4987063, MIM: 278780<li>H->R at 181: in dbSNP:rs4150295, MIM: 278780<li>M->V at 254: in dbSNP:rs1047769, MIM: 278780<li>Q->R at 256: in dbSNP:rs4150313, MIM: 278780<li>S->C at 311: in dbSNP:rs2307491, MIM: 278780<li>E->K at 399: in dbSNP rsrs4150315, MIM: 278780<li>C->S at 529: in dbSNP:rs2227869, MIM: 278780<li>V->I at 590: in dbSNP rsrs4150318, MIM: 278780<li>V->L at 597: in dbSNP rsrs4150319, MIM: 278780<li>F->L at 670: in dbSNP:rs1803542, MIM: 278780<li>Q->R at 680: in dbSNP:rs4987168, MIM: 278780<li>A->V at 792: in XP-G; mild form, MIM: 278780<li>L->P at 858: in XP-G; reduced stability and greatly impaired endonuclease activity, MIM: 278780<li>A->T at 874: in XP-G; mild form; residual activity: in dbSNP rsrs28929496, MIM: 278780<li>N->S at 879: in dbSNP:rs4150342, MIM: 278780<li>R->H at 1009: in dbSNP rsrs4150387, MIM: 278780<li>G->R at 1053: in dbSNP:rs9514066, MIM: 278780<li>G->Q at 1080, MIM: 278780<li>G->R at 1080: in dbSNP:rs9514067, MIM: 278780<li>D->H at 1104: in dbSNP:rs17655, MIM: 278780<li>A->V at 1119: in dbSNP:rs2227871, MIM: 278780</ul>							<li>P04323</li><li>P20825</li><li>P10399</li><li>P10978</li><li>P00641</li><li>Q00962</li><li>P38446</li><li>P15629</li><li>P13717</li><li>P05400</li><li>P03554</li><li>P03556</li><li>Q03269</li><li>P03555</li><li>Q03277</li><li>P10394</li><li>Q03278</li><li>Q03275</li><li>Q05118</li><li>Q03276</li><li>P11283</li><li>P16423</li><li>Q03273</li><li>Q03274</li><li>Q03271</li><li>Q03272</li><li>P09523</li><li>P11369</li><li>Q8I7P9</li><li>Q03270</li><li>P11367</li><li>Q02964</li><li>P10400</li><li>P20314</li><li>Q03279</li><li>P10401</li>	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	<li>rs4150318</li><li>rs4150387</li><li>rs4150319</li><li>rs4150295</li><li>rs1047769</li><li>rs17655</li><li>rs4150342</li><li>rs4987063</li><li>rs2227869</li><li>rs2307491</li><li>rs2227871</li><li>rs9514067</li><li>rs1803542</li><li>rs9514066</li><li>rs4150315</li><li>rs4987168</li><li>rs28929496</li><li>rs4150313</li>	2
P28749	5933	<ul><li>I->M at 1035: in dbSNP:rs8114297</ul>									rs8114297	2
P28799	2896	<ul><li>A->D at 9: in UP-FTD; no significant difference in the total mRNA between cases and controls; although the mutant protein is expressed it is not secreted and appears to be trapped within an intracellular compartment, MIM: 607485<li>G->A at 515: in dbSNP:rs25647, MIM: 607485</ul>					intracellular	GO:0005622		Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]	rs25647	2
P28827	5797	<ul><li>S->R at 39: in dbSNP:rs35224276</ul>									rs35224276	2
P28845	3290	<ul><li>V->E at 148: in a breast cancer sample; somatic mutation</ul>										2
P28906	947	<ul><li>A->S at 367: in dbSNP:rs28362497</ul>									rs28362497	2
P28907	952	<ul><li>R->W at 140: seems to contribute to the development of type II diabetes; 50% reduction in activity; dbSNP:rs1800561</ul>	development	GO:0007275							rs1800561	2
P28908	943	<ul><li>C->F at 273: in dbSNP:rs2230624<li>C->Y at 273<li>C->R at 297: in dbSNP:rs1763642<li>P->S at 314: in dbSNP:rs2275170<li>S->G at 402: in dbSNP:rs2230625<li>Q->R at 466: in dbSNP:rs35511003</ul>									<li>rs35511003</li><li>rs1763642</li><li>rs2230624</li><li>rs2230625</li><li>rs2275170</li>	2
P29017	911	<ul><li>N->T at 70: in dbSNP:rs3138100<li>F->S at 300: in dbSNP:rs3138105</ul>									<li>rs3138105</li><li>rs3138100</li>	2
P29033	2706	<ul><li>G->R at 12: in KID syndrome, MIM: 148210<li>S->F at 17: in KID syndrome; dbSNP:rs28929485, MIM: 148210<li>V->I at 27: in dbSNP:rs2274084, MIM: 148210<li>R->H at 32: in DFNB1, MIM: 220290<li>R->L at 32, MIM: 220290<li>M->T at 34: in dbSNP:rs35887622, MIM: 220290<li>V->I at 37: in DFNB1; was reported first as a polymorphism, MIM: 220290<li>W->C at 44: in DFNA3, MIM: 601544<li>W->S at 44: in DFNA3; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect, MIM: 601544<li>G->E at 45: in deafness, MIM: 601544<li>DEQ->E at 46-48: may contribute to deafness, MIM: 601544<li>D->N at 50: in KID syndrome and HID syndrome; dbSNP:rs28931594, MIM: 148210<li>D->Y at 50: in KID syndrome: in dbSNP rsrs28931594, MIM: 148210<li>N->K at 54: in BPS, MIM: 149200<li>G->A at 59: in PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein, MIM: 148350<li>G->S at 59: in BPS, MIM: 149200<li>D->H at 66: in VS and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein, MIM: 124500<li>I->T at 71: in deafness, MIM: 124500<li>R->Q at 75: in PPKDFN: in dbSNP rsrs28931593, MIM: 148350<li>R->W at 75: in PPKDFN and DFNA3; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect, MIM: 148350<li>W->R at 77: in DFNB1, MIM: 220290<li>L->P at 79: in DFNB1, MIM: 220290<li>Q->K at 80: in DFNB1, MIM: 220290<li>F->L at 83, MIM: 220290<li>V->L at 84: in DFNB1, MIM: 220290<li>T->R at 86: in deafness, MIM: 220290<li>L->P at 90: in DFNB1, MIM: 220290<li>M->I at 93: in DFNB1, MIM: 220290<li>V->M at 95: in DFNB1, MIM: 220290<li>I->T at 111, MIM: 220290<li>S->R at 113: in DFNB1, MIM: 220290<li>E->G at 114: in dbSNP:rs2274083, MIM: 220290<li>Missing  at 120: in DFNB1, MIM: 220290<li>T->N at 123, MIM: 220290<li>R->H at 127: very common polymorphism in India, MIM: 220290<li>E->K at 129: in DFNB1, MIM: 220290<li>R->Q at 143: in DFNA3, MIM: 601544<li>R->W at 143: in DFNB1, MIM: 220290<li>V->I at 153: may contribute to deafness, MIM: 220290<li>D->V at 159: in DFNB1; dbSNP:rs28931592, MIM: 220290<li>G->S at 160: in dbSNP:rs34988750, MIM: 220290<li>R->W at 165, MIM: 220290<li>V->M at 167: may contribute to deafness, MIM: 220290<li>C->Y at 169, MIM: 220290<li>V->A at 178: in DFNB1, MIM: 220290<li>D->N at 179: in DFNA3; dbSNP:rs28931595, MIM: 601544<li>R->P at 184: in DFNB1, MIM: 220290<li>R->Q at 184: in DFNA3, MIM: 601544<li>R->W at 184: in deafness, MIM: 601544<li>F->L at 191, MIM: 601544<li>A->S at 197: in DFNA3, MIM: 601544<li>C->F at 202: in DFNA3, MIM: 601544<li>I->K at 203: in DFNB1, MIM: 220290<li>I->T at 203, MIM: 220290<li>L->P at 214: in DFNB1, MIM: 220290</ul>					nucleus	GO:0005634	Q14807	<li>Bart-Pumphrey syndrome (BPS) [MIM:149200]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 1 (DFNB1) [MIM:220290]</li><li>Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]</li><li>Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 3 (DFNA3) [MIM:601544]</li><li>Vohwinkel syndrome (VS) [MIM:124500]</li><li>Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]</li>	<li>rs2274083</li><li>rs34988750</li><li>rs2274084</li><li>rs28929485</li><li>rs28931594</li><li>rs28931595</li><li>rs28931593</li><li>rs28931592</li><li>rs35887622</li>	2
P29083	2960	<ul><li>P->S at 366: in dbSNP:rs3732401</ul>									rs3732401	2
P29084	2961	<ul><li>I->T at 133: in dbSNP:rs2229299<li>K->R at 183: in dbSNP:rs2978277</ul>									<li>rs2978277</li><li>rs2229299</li>	2
P29120	5122	<ul><li>R->Q at 80: in dbSNP:rs1799904<li>Missing  at 213: in PC1 deficiency<li>N->D at 221: associated with susceptibility to obesity; induces a 10.4% reduction of activity : in dbSNP rsrs6232<li>S->L at 307: in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates<li>G->R at 483: in PC1 deficiency; prevents processing of pro-PCSK1 and leads to its retention in the endoplasmic reticulum, MIM: 600955<li>Q->E at 665: in dbSNP:rs6234, MIM: 600955<li>S->T at 690: in dbSNP:rs6235, MIM: 600955</ul>			catalytic activity	GO:0003824	<li>intracellular</li><li>endoplasmic reticulum</li>	<li>GO:0005622</li><li>GO:0005783</li>	<li>P22413</li><li>P28840</li><li>P63239</li><li>Q9GLR1</li><li>P63240</li><li>P29120</li>	Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	<li>rs6232</li><li>rs6235</li><li>rs6234</li><li>rs1799904</li>	2
P29122	5046	<ul><li>C->R at 502: in dbSNP:rs1058260</ul>									rs1058260	2
P29218	3612	<ul><li>I->V at 109: in dbSNP:rs204781</ul>									rs204781	2
P29274	135	<ul><li>A->V at 50: in dbSNP:rs4530<li>R->H at 300: in dbSNP:rs4990<li>G->R at 392</ul>									<li>rs4530</li><li>rs4990</li>	2
P29279		<ul><li>H->D at 83: in dbSNP:rs7451102</ul>									rs7451102	2
P29317	1969	<ul><li>G->R at 391: in dbSNP rsrs34192549<li>T->M at 511: in dbSNP rsrs55747232<li>R->H at 568: in dbSNP rsrs56198600<li>G->S at 777: in a gastric adenocarcinoma sample; somatic mutation<li>R->H at 876: in dbSNP rsrs35903225</ul>									<li>rs35903225</li><li>rs34192549</li><li>rs56198600</li><li>rs55747232</li>	2
P29320	2042	<ul><li>T->K at 37: in a colorectal cancer sample; somatic mutation<li>N->S at 85: in a colorectal cancer sample; somatic mutation<li>S->Y at 229: in a lung large cell carcinoma sample; somatic mutation<li>S->F at 449: in a lung neuroendocrine carcinoma sample; somatic mutation<li>G->L at 518: in a lung squamous cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions<li>I->V at 564: in dbSNP rsrs55712516<li>C->S at 568: in dbSNP rsrs56077781<li>L->P at 590: in dbSNP rsrs56081642<li>I->L at 621: in a colorectal cancer sample; somatic mutation<li>G->E at 766: in a lung adenocarcinoma sample; somatic mutation<li>A->G at 777: in dbSNP rsrs34437982<li>D->N at 806: in a colorectal cancer sample; somatic mutation<li>R->H at 914: in dbSNP:rs17801309<li>W->R at 924: in dbSNP:rs35124509</ul>									<li>rs35124509</li><li>rs34437982</li><li>rs55712516</li><li>rs56077781</li><li>rs17801309</li><li>rs56081642</li>	2
P29322	2046	<ul><li>G->S at 45: in dbSNP rsrs45498698<li>V->L at 60: in dbSNP rsrs56402644<li>N->K at 123: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>R->C at 179: in a gastric adenocarcinoma sample; somatic mutation<li>R->L at 198: in a lung adenocarcinoma sample; somatic mutation<li>V->M at 444: in dbSNP:rs2295021<li>E->Q at 612: in dbSNP:rs999765<li>P->L at 860: in a metastatic melanoma sample; somatic mutation</ul>									<li>rs2295021</li><li>rs56402644</li><li>rs999765</li><li>rs45498698</li>	2
P29323	2048	<ul><li>R->H at 199: in prostate cancer<li>A->S at 279: in prostate cancer; dbSNP:rs35882952<li>C->G at 289<li>I->V at 361: in dbSNP rsrs56180036<li>V->A at 650: in prostate cancer<li>D->N at 678: in dbSNP rsrs28936395<li>H->N at 679: in prostate cancer<li>R->W at 844: in dbSNP rsrs55826626<li>M->V at 883: in prostate cancer<li>I->M at 909: in prostate cancer</ul>									<li>rs28936395</li><li>rs35882952</li><li>rs56180036</li><li>rs55826626</li>	2
P29353	6464	<ul><li>A->V at 205: in dbSNP:rs8191981<li>M->V at 410: in dbSNP:rs8191979</ul>									<li>rs8191979</li><li>rs8191981</li>	2
P29371	6870	<ul><li>K->R at 286: in dbSNP:rs2276973<li>A->T at 449: in dbSNP:rs17033889</ul>									<li>rs2276973</li><li>rs17033889</li>	2
P29372	4350	<ul><li>K->Q at 22: in dbSNP:rs3176383<li>P->L at 64: in dbSNP:rs2308315<li>Y->H at 71: in dbSNP:rs2266607<li>Q->R at 93: in dbSNP:rs25671<li>R->C at 120: in dbSNP:rs2308313<li>R->Q at 141: in dbSNP:rs2308312<li>A->V at 258: in dbSNP:rs769193<li>A->S at 298: in dbSNP:rs2234949</ul>									<li>rs2234949</li><li>rs769193</li><li>rs2308315</li><li>rs2266607</li><li>rs2308313</li><li>rs2308312</li><li>rs25671</li><li>rs3176383</li>	2
P29374	5926	<ul><li>H->P at 412: in dbSNP:rs34982206<li>N->S at 724: in dbSNP:rs2230098<li>T->A at 779: in dbSNP:rs1051858</ul>									<li>rs1051858</li><li>rs34982206</li><li>rs2230098</li>	2
P29375	5927	<ul><li>M->T at 865: in dbSNP:rs11062385<li>P->A at 1190: in dbSNP:rs2229353</ul>									<li>rs2229353</li><li>rs11062385</li>	2
P29376	4058	<ul><li>R->Q at 42: in dbSNP:rs2305030<li>C->R at 384: in dbSNP rsrs55683312<li>D->N at 535: in dbSNP rsrs35932273<li>R->S at 569<li>R->Q at 673: in dbSNP rsrs55876255<li>P->S at 745: in dbSNP rsrs55900837<li>P->S at 838: in dbSNP rsrs56367146</ul>									<li>rs55683312</li><li>rs55876255</li><li>rs55900837</li><li>rs35932273</li><li>rs2305030</li><li>rs56367146</li>	2
P29400	1287	<ul><li>G->D at 54: in APSX; adult type, MIM: 301050<li>G->S at 114: in APSX, MIM: 301050<li>G->E at 129: in APSX; juvenile type, MIM: 301050<li>G->V at 129: in APSX; juvenile type, MIM: 301050<li>G->R at 174: in APSX, MIM: 301050<li>G->C at 177: in APSX; presenting with dot-and-fleck retinopathy, MIM: 301050<li>G->R at 177: in APSX; adult type, MIM: 301050<li>G->R at 192: in APSX, MIM: 301050<li>G->V at 204: in APSX; juvenile type, MIM: 301050<li>G->R at 216: in APSX; juvenile type, MIM: 301050<li>G->S at 219: in APSX, MIM: 301050<li>G->R at 230: in APSX; juvenile type, MIM: 301050<li>G->E at 239: in APSX, MIM: 301050<li>G->R at 264: in APSX; adult type, MIM: 301050<li>G->V at 289: in APSX; juvenile type, MIM: 301050<li>G->R at 292: in APSX, MIM: 301050<li>G->V at 292: in APSX; juvenile type, MIM: 301050<li>G->D at 295: in APSX, MIM: 301050<li>G->S at 298: in APSX, MIM: 301050<li>G->R at 319: in APSX; juvenile type, MIM: 301050<li>G->E at 325: in APSX, MIM: 301050<li>G->R at 325: in APSX; juvenile and adult types, MIM: 301050<li>G->V at 331: in APSX, MIM: 301050<li>Missing  at 365-367: in APSX; juvenile type, MIM: 301050<li>G->E at 365: in APSX; juvenile type, MIM: 301050<li>G->E at 371: in APSX; juvenile type, MIM: 301050<li>G->A at 374: in APSX, MIM: 301050<li>G->D at 383: in APSX; juvenile type, MIM: 301050<li>G->E at 400: in APSX; adult type, MIM: 301050<li>G->V at 406: in APSX; adult type, MIM: 301050<li>G->D at 409: in APSX, MIM: 301050<li>G->V at 412: in APSX; adult type, MIM: 301050<li>G->R at 415: in APSX, MIM: 301050<li>G->E at 420: in APSX; juvenile type, MIM: 301050<li>G->V at 420: in APSX, MIM: 301050<li>G->E at 423: in APSX, MIM: 301050<li>A->D at 430, MIM: 301050<li>I->S at 444: in dbSNP:rs2272946, MIM: 301050<li>Missing  at 456-458: in APSX, MIM: 301050<li>G->E at 466: in APSX, MIM: 301050<li>G->R at 472: in APSX, MIM: 301050<li>G->E at 491: in APSX; juvenile type, MIM: 301050<li>G->D at 494: in APSX; adult type, MIM: 301050<li>Missing  at 496-507: in APSX; juvenile type, MIM: 301050<li>G->C at 497: in APSX; adult type, MIM: 301050<li>G->C at 521: in APSX, MIM: 301050<li>G->S at 521: in APSX, MIM: 301050<li>G->D at 524: in APSX; adult type, MIM: 301050<li>G->R at 545: in APSX, MIM: 301050<li>G->V at 545: in APSX, MIM: 301050<li>G->R at 558: in APSX, MIM: 301050<li>G->R at 561: in APSX, MIM: 301050<li>G->A at 567: in APSX; juvenile type, MIM: 301050<li>G->D at 573: in APSX, MIM: 301050<li>G->E at 579: in APSX, MIM: 301050<li>G->R at 579: in APSX; adult type, MIM: 301050<li>G->V at 603: in APSX, MIM: 301050<li>G->R at 609: in APSX; juvenile type, MIM: 301050<li>G->V at 609: in APSX; juvenile type, MIM: 301050<li>P->S at 619, MIM: 301050<li>G->C at 621: in APSX, MIM: 301050<li>G->D at 624: in APSX, MIM: 301050<li>G->D at 629: in APSX, MIM: 301050<li>G->D at 632: in APSX, MIM: 301050<li>E->K at 633: in APSX, MIM: 301050<li>G->D at 635: in APSX, MIM: 301050<li>G->A at 638: in APSX, MIM: 301050<li>G->S at 638: in APSX; juvenile type, MIM: 301050<li>G->V at 638: in APSX, MIM: 301050<li>G->R at 653: in APSX; juvenile type, MIM: 301050<li>K->N at 664: in dbSNP:rs34077552, MIM: 301050<li>G->A at 669: in APSX; juvenile type, MIM: 301050<li>G->D at 681: in APSX, MIM: 301050<li>G->V at 684: in APSX; adult type, MIM: 301050<li>G->E at 687: in APSX, MIM: 301050<li>G->E at 722: in APSX, MIM: 301050<li>P->A at 739, MIM: 301050<li>P->S at 739: in APSX; juvenile type, MIM: 301050<li>G->E at 740: in APSX; juvenile type, MIM: 301050<li>G->D at 743: in APSX, MIM: 301050<li>G->D at 772: in APSX; juvenile type, MIM: 301050<li>G->R at 796: in APSX, MIM: 301050<li>Missing  at 802-807: in APSX, MIM: 301050<li>G->R at 802: in APSX, MIM: 301050<li>G->E at 808: in APSX; adult type, MIM: 301050<li>G->V at 811: in APSX; juvenile type, MIM: 301050<li>Missing  at 822-824: in APSX, MIM: 301050<li>G->R at 822: in APSX, MIM: 301050<li>G->E at 852: in APSX; juvenile type, MIM: 301050<li>G->R at 852: in APSX, MIM: 301050<li>Missing  at 864-875: in APSX, MIM: 301050<li>G->E at 866: in APSX; adult type, MIM: 301050<li>G->R at 869: in APSX; juvenile type, MIM: 301050<li>G->R at 872: in APSX, MIM: 301050<li>G->R at 878: in APSX, MIM: 301050<li>M->V at 898: in APSX; mild phenotype, MIM: 301050<li>G->V at 902: in APSX; juvenile type, MIM: 301050<li>G->E at 911: in APSX, MIM: 301050<li>G->C at 941: in APSX, MIM: 301050<li>Missing  at 942: in APSX, MIM: 301050<li>G->D at 947: in APSX, MIM: 301050<li>G->V at 953: in APSX; found on the same allele as variant Glu-1211, MIM: 301050<li>Missing  at 988-992: in APSX; adult type, MIM: 301050<li>G->A at 1006: in APSX, MIM: 301050<li>G->V at 1006: in APSX, MIM: 301050<li>G->E at 1015: in APSX, MIM: 301050<li>G->V at 1015: in APSX, MIM: 301050<li>G->S at 1030: in APSX, MIM: 301050<li>G->V at 1036: in APSX, MIM: 301050<li>G->S at 1039: in APSX; juvenile type, MIM: 301050<li>G->E at 1045: in APSX, MIM: 301050<li>G->R at 1066: in APSX, MIM: 301050<li>G->S at 1066: in APSX, MIM: 301050<li>G->D at 1086: in APSX, MIM: 301050<li>G->V at 1104: in APSX, MIM: 301050<li>G->R at 1107: in APSX, MIM: 301050<li>G->D at 1143: in APSX; juvenile type, MIM: 301050<li>G->S at 1143: in APSX; adult type, MIM: 301050<li>G->R at 1158: in APSX, MIM: 301050<li>G->R at 1161: in APSX, MIM: 301050<li>G->S at 1167: in APSX, MIM: 301050<li>G->S at 1170: in APSX, MIM: 301050<li>G->R at 1182: in APSX; juvenile type, MIM: 301050<li>G->R at 1196: in APSX, MIM: 301050<li>G->C at 1205: in APSX; juvenile type, MIM: 301050<li>G->E at 1211: in APSX; found on the same allele as variant Val-953, MIM: 301050<li>G->R at 1211: in APSX, MIM: 301050<li>G->D at 1220: in APSX, MIM: 301050<li>G->D at 1229: in APSX; adult type, MIM: 301050<li>G->C at 1241: in APSX, MIM: 301050<li>G->D at 1244: in APSX, MIM: 301050<li>G->S at 1252: in APSX; adult type, MIM: 301050<li>G->E at 1261: in APSX, MIM: 301050<li>G->S at 1270: in APSX, MIM: 301050<li>G->S at 1333: in APSX, MIM: 301050<li>G->S at 1357: in APSX, MIM: 301050<li>G->V at 1379: in APSX; adult type, MIM: 301050<li>R->C at 1410: in APSX; adult and juvenile types, MIM: 301050<li>G->W at 1421: in APSX; adult type, MIM: 301050<li>R->C at 1422: in APSX; juvenile type, MIM: 301050<li>G->V at 1427: in APSX; adult type, MIM: 301050<li>L->M at 1428, MIM: 301050<li>G->D at 1442: in APSX, MIM: 301050<li>G->S at 1451: in APSX, MIM: 301050<li>G->A at 1486: in APSX; adult type, MIM: 301050<li>S->F at 1488: in APSX, MIM: 301050<li>A->D at 1498: in APSX, MIM: 301050<li>R->H at 1511: in APSX; juvenile type; could be a non pathogenic variant, MIM: 301050<li>P->T at 1517: in APSX; juvenile type, MIM: 301050<li>W->S at 1538: in APSX; adult type, MIM: 301050<li>P->A at 1559, MIM: 301050<li>R->Q at 1563: in APSX, MIM: 301050<li>C->S at 1564: in APSX; adult type, MIM: 301050<li>C->R at 1567: in APSX; juvenile type, MIM: 301050<li>G->D at 1596: in APSX, MIM: 301050<li>Missing  at 1597-1685: in APSX, MIM: 301050<li>L->R at 1649: in APSX; adult type, MIM: 301050<li>R->P at 1677: in APSX, MIM: 301050<li>R->Q at 1677: in APSX, MIM: 301050<li>C->W at 1678: in APSX, MIM: 301050<li>Missing  at 1679-1685: in APSX, MIM: 301050</ul>							P00864	Alport syndrome X-linked (APSX) [MIM:301050]	<li>rs34077552</li><li>rs2272946</li>	2
P29401	7086	<ul><li>I->V at 181: in dbSNP:rs17052920</ul>									rs17052920	2
P29460	3593	<ul><li>V->I at 33: in dbSNP:rs3213096<li>V->F at 298: in dbSNP:rs3213119</ul>									<li>rs3213119</li><li>rs3213096</li>	2
P29466	834	<ul><li>R->H at 15: in dbSNP:rs1042743</ul>									rs1042743	2
P29474	4846	<ul><li>R->Q at 112: in dbSNP:rs3918166<li>E->D at 298: in susceptibility to coronary spasm; dbSNP:rs1799983<li>R->C at 474: in a colorectal cancer sample; somatic mutation<li>R->Q at 602: in a colorectal cancer sample; somatic mutation<li>V->M at 827: in dbSNP:rs3918232<li>R->M at 885: in dbSNP:rs3918201<li>Q->L at 982: in dbSNP:rs3918234</ul>									<li>rs3918201</li><li>rs1799983</li><li>rs3918232</li><li>rs3918166</li><li>rs3918234</li>	2
P29475	4842	<ul><li>P->S at 228: in dbSNP:rs9658279<li>D->A at 394: in dbSNP:rs9658356<li>N->D at 725: in dbSNP:rs9658403<li>G->D at 864: in dbSNP:rs9658445<li>Q->R at 1064: in dbSNP:rs9658482</ul>									<li>rs9658403</li><li>rs9658445</li><li>rs9658482</li><li>rs9658356</li><li>rs9658279</li>	2
P29508	6317	<ul><li>G->A at 351: in dbSNP:rs3180227<li>T->A at 357: in dbSNP:rs1065205</ul>									<li>rs3180227</li><li>rs1065205</li>	2
P29536	25802	<ul><li>T->M at 295: in dbSNP:rs2820312</ul>									rs2820312	2
P29590	5371	<ul><li>F->L at 645: in dbSNP:rs5742915</ul>									rs5742915	2
P29597	7297	<ul><li>R->C at 4: in dbSNP:rs35163004<li>R->H at 4: in dbSNP:rs12720343<li>A->V at 81: in dbSNP:rs1049619<li>R->H at 197: in dbSNP:rs12720263<li>V->F at 362: in dbSNP:rs2304256<li>G->S at 363: in dbSNP:rs2304255<li>V->M at 386: in dbSNP rsrs55956017<li>R->Q at 442: in dbSNP:rs2304254<li>I->S at 684: in dbSNP:rs12720356<li>R->W at 703: in dbSNP rsrs55882956<li>H->R at 732: in a colorectal adenocarcinoma sample; somatic mutation<li>P->H at 820: in dbSNP:rs34046749<li>A->V at 928: in dbSNP:rs35018800<li>P->A at 1104: in dbSNP:rs34536443<li>E->G at 1163: in dbSNP rsrs55886939</ul>									<li>rs55882956</li><li>rs34536443</li><li>rs55956017</li><li>rs34046749</li><li>rs2304255</li><li>rs2304256</li><li>rs2304254</li><li>rs12720343</li><li>rs12720263</li><li>rs12720356</li><li>rs1049619</li><li>rs35163004</li><li>rs35018800</li><li>rs55886939</li>	2
P29803	5161	<ul><li>M->L at 280: in dbSNP:rs2229137<li>R->G at 376: in dbSNP:rs17024795</ul>									<li>rs17024795</li><li>rs2229137</li>	2
P29965	959	<ul><li>M->R at 36: in HIGM1, MIM: 308230<li>G->R at 38: in HIGM1, MIM: 308230<li>G->R at 116: in HIGM1, MIM: 308230<li>G->S at 116: in HIGM1, MIM: 308230<li>A->E at 123: in HIGM1, MIM: 308230<li>H->R at 125: in HIGM1, MIM: 308230<li>V->A at 126: in HIGM1, MIM: 308230<li>V->D at 126: in HIGM1, MIM: 308230<li>SE->RG at 128-129: in HIGM1, MIM: 308230<li>W->C at 140: in HIGM1, MIM: 308230<li>W->G at 140: in HIGM1, MIM: 308230<li>W->R at 140: in HIGM1, MIM: 308230<li>K->T at 143: in HIGM1, MIM: 308230<li>G->E at 144: in HIGM1, MIM: 308230<li>T->N at 147: in HIGM1, MIM: 308230<li>L->P at 155: in HIGM1, MIM: 308230<li>Y->C at 170: in HIGM1, MIM: 308230<li>A->D at 173: in HIGM1, MIM: 308230<li>Q->R at 174: in HIGM1, MIM: 308230<li>T->I at 176: in HIGM1, MIM: 308230<li>L->P at 195: in HIGM1, MIM: 308230<li>A->D at 208: in HIGM1, MIM: 308230<li>T->N at 211: in HIGM1, MIM: 308230<li>G->R at 219, MIM: 308230<li>H->Y at 224: in HIGM1, MIM: 308230<li>G->A at 226: in HIGM1, MIM: 308230<li>G->V at 227: in HIGM1, MIM: 308230<li>Missing  at 227: in HIGM1, MIM: 308230<li>L->S at 231: in HIGM1, MIM: 308230<li>A->P at 235: in HIGM1, MIM: 308230<li>V->E at 237: in HIGM1, MIM: 308230<li>T->M at 254: in HIGM1, MIM: 308230<li>G->D at 257: in HIGM1, MIM: 308230<li>G->S at 257: in HIGM1, MIM: 308230<li>L->S at 258: in HIGM1, MIM: 308230</ul>								X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]		2
P29966	4082	<ul><li>P->L at 250: in dbSNP rsrs45593337<li>A->V at 274: in dbSNP rsrs3734458</ul>									<li>rs3734458</li><li>rs45593337</li>	2
P29972	358	<ul><li>P->L at 38: in Co<li>A->V at 45: in Co: in dbSNP rsrs28362692<li>G->D at 165: in dbSNP:rs28362731</ul>									<li>rs28362692</li><li>rs28362731</li>	2
P29973	1259	<ul><li>R->Q at 28<li>D->N at 114<li>N->D at 118: in dbSNP:rs28642966<li>S->F at 316: in ARRP, MIM: 268000</ul>								Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	rs28642966	2
P30038	8659	<ul><li>P->L at 16: in allele ALDH4A1*4<li>S->L at 352: in HPII; allele ALDH4A1*3, MIM: 239510<li>V->I at 470: in dbSNP:rs2230709, MIM: 239510<li>T->A at 473: in dbSNP:rs6695033, MIM: 239510</ul>							P30038	Hyperprolinemia type II (HPII) [MIM:239510]	<li>rs6695033</li><li>rs2230709</li>	2
P30039	64081	<ul><li>R->C at 17: in dbSNP:rs12359690<li>H->R at 257: in dbSNP:rs4142048</ul>									<li>rs12359690</li><li>rs4142048</li>	2
P30042	8209	<ul><li>V->A at 6: in dbSNP:rs968714<li>V->M at 148: in dbSNP:rs17264865<li>L->V at 248: in dbSNP:rs2838497</ul>									<li>rs968714</li><li>rs2838497</li><li>rs17264865</li>	2
P30043	645	<ul><li>R->Q at 46: in dbSNP:rs11547746</ul>									rs11547746	2
P30044	25824	<ul><li>C->Y at 33: in dbSNP:rs7938623<li>F->L at 157: in a breast cancer sample; somatic mutation</ul>									rs7938623	2
P30048	10935	<ul><li>S->R at 55: in dbSNP rsrs34698541<li>A->T at 218: in dbSNP rsrs36064375<li>T->I at 234: in dbSNP:rs35697338</ul>									<li>rs35697338</li><li>rs36064375</li><li>rs34698541</li>	2
P30084	1892	<ul><li>V->A at 11: in dbSNP:rs10466126<li>T->I at 75: in dbSNP:rs1049951</ul>									<li>rs10466126</li><li>rs1049951</li>	2
P30086	5037	<ul><li>S->N at 9</ul>										2
P30101	2923	<ul><li>K->R at 415: in dbSNP:rs6413485</ul>									rs6413485	2
P30153	5518	<ul><li>H->R at 87: in lung</ul>										2
P30154	5519	<ul><li>G->R at 8: in a lung cancer patient<li>G->A at 15: in a colorectal cancer patient<li>P->S at 65: in a lung cancer patient<li>G->D at 90: in a lung cancer patient; dbSNP:rs1805076<li>L->P at 101: in a colon adenocarcinoma<li>K->E at 343: in a lung cancer patient<li>S->P at 365: in a colorectal cancer patient<li>V->A at 448: in a colon adenocarcinoma<li>V->E at 498: in a colorectal cancer patient<li>L->I at 499: in a colorectal cancer patient<li>V->G at 500: in a colorectal cancer patient<li>D->G at 504: in a lung cancer patient<li>V->A at 545: in a colon adenocarcinoma</ul>									rs1805076	2
P30260	996	<ul><li>G->A at 270: in a breast cancer sample; somatic mutation<li>S->P at 320: in dbSNP:rs3208653<li>Y->H at 496: in dbSNP:rs13666</ul>									<li>rs3208653</li><li>rs13666</li>	2
P30279	894	<ul><li>G->R at 268: in dbSNP:rs3217921</ul>									rs3217921	2
P30281	896	<ul><li>P->S at 134: in dbSNP:rs3218089<li>E->D at 253: in dbSNP:rs33966734<li>S->A at 259: in dbSNP:rs1051130</ul>									<li>rs33966734</li><li>rs3218089</li><li>rs1051130</li>	2
P30291	7465	<ul><li>G->C at 210: in dbSNP:rs34412975<li>S->I at 472: in dbSNP rsrs56411856</ul>									<li>rs34412975</li><li>rs56411856</li>	2
P30301	4284	<ul><li>E->G at 134: in cataract; uni-lamellar which is stable after birth; loss of activity<li>T->R at 138: in cataract; multi-focal opacities which increase throughout life; loss of activity</ul>										2
P30304	993	<ul><li>S->F at 88: in dbSNP:rs3731499<li>R->G at 182: in dbSNP:rs6771386<li>R->W at 182: in dbSNP:rs6771386</ul>									<li>rs6771386</li><li>rs3731499</li>	2
P30305	994	<ul><li>E->K at 548: in dbSNP:rs11570019</ul>									rs11570019	2
P30307	995	<ul><li>S->N at 14: in dbSNP:rs11567959<li>R->C at 70: in dbSNP:rs3734166<li>S->N at 78: in dbSNP:rs11567962<li>G->R at 297: in dbSNP:rs11567997</ul>									<li>rs11567962</li><li>rs11567997</li><li>rs11567959</li><li>rs3734166</li>	2
P30411	624	<ul><li>R->C at 14: in dbSNP:rs1046248<li>G->E at 354: in dbSNP:rs2227279</ul>									<li>rs1046248</li><li>rs2227279</li>	2
P30414	4820	<ul><li>L->V at 861: in dbSNP:rs33969824<li>S->L at 935: in dbSNP:rs35770315</ul>									<li>rs35770315</li><li>rs33969824</li>	2
P30419	4836	<ul><li>Q->K at 61: in dbSNP:rs3087878</ul>									rs3087878	2
P30443		<ul><li>F->S at 33: in allele A*0102<li>R->S at 41: in allele A*0102<li>G->R at 80: in allele A*0107<li>M->V at 91: in allele A*0107<li>A->E at 100: in allele A*0107<li>D->A at 114: in allele A*0107<li>I->M at 121: in allele A*0103<li>R->L at 180: in allele A*0106<li>V->A at 182: in allele A*0106</ul>										2
P30447		<ul><li>Y->C at 31: in allele A*2305<li>K->N at 151: in allele A*2303<li>L->W at 180: in allele A*2302<li>DG->EW at 190-191: in allele A*2304</ul>										2
P30450	100133382	<ul><li>F->L at 60: in allele A*2615<li>RN->GE at 86-87: in allele A*2607<li>R->G at 89: in dbSNP:rs1059459<li>N->K at 90: in allele A*2607<li>H->Q at 94: in dbSNP:rs1059463<li>DRAN->HRVD at 98-101: in allele A*2603<li>A->E at 100: in allele A*2605<li>N->D at 101: in dbSNP:rs1136688<li>P->S at 129: in dbSNP:rs1136700<li>G->W at 131: in dbSNP:rs1136702<li>F->L at 133: in dbSNP:rs1059488<li>D->N at 140: in allele A*2602<li>N->K at 151: in dbSNP:rs1059509<li>I->T at 166: in dbSNP:rs1059516<li>R->H at 169: in dbSNP:rs1059520<li>E->V at 176: in allele A*2612<li>W->Q at 180: in allele A*2608; requires 2 nucleotide substitutions<li>W->R at 180: in dbSNP:rs9260155<li>E->D at 185: in dbSNP:rs1059542<li>R->L at 187: in allele A*2604<li>I->V at 306: in dbSNP:rs1136949</ul>									<li>rs1136949</li><li>rs1059542</li><li>rs1059520</li><li>rs1059509</li><li>rs1059463</li><li>rs9260155</li><li>rs1059488</li><li>rs1136700</li><li>rs1059516</li><li>rs1136688</li><li>rs1059459</li><li>rs1136702</li>	2
P30453		<ul><li>I->V at 3: in allele A*3402<li>K->N at 90: in allele A*3402<li>R->I at 121: in allele A*3402<li>P->S at 129: in allele A*3402<li>Q->R at 138: in allele A*3402<li>W->L at 180: in allele A*3402<li>L->I at 312: in allele A*3402</ul>										2
P30455		<ul><li>V->A at 182: in allele A*3602<li>E->D at 185: in allele A*3602</ul>										2
P30457		<ul><li>S->W at 28: in allele A*6602<li>D->A at 114: in allele A*6602<li>R->E at 187: in allele A*6602; requires 2 nucleotide substitutions</ul>										2
P30459		<ul><li>R->W at 23: in allele A*7402<li>Q->G at 86: in allele A*7404; requires 2 nucleotide substitutions<li>N->K at 90: in allele A*7404<li>T->A at 97: in allele A*7405<li>G->A at 103: in allele A*7403</ul>										2
P30460		<ul><li>N->D at 87: in allele B*0810<li>F->S at 91: in allele B*0804<li>S->N at 101: in allele B*0806<li>L->W at 119: in allele B*0809<li>S->R at 121: in allele B*0812<li>S->T at 121: in allele B*0809<li>HN->YH at 137-138: in allele B*0814<li>N->D at 138: in allele B*0807<li>Y->D at 140: in allele B*0814<li>V->E at 176: in allele B*0806<li>D->L at 180: in allele B*0813; requires 2 nucleotide substitutions<li>D->R at 180: in allele B*0806; requires 2 nucleotide substitutions</ul>										2
P30461		<ul><li>TW->II at 118-119: in allele B*1301<li>T->R at 121: in allele B*1301<li>N->D at 138: in allele B*1304<li>L->S at 140: in allele B*1304<li>L->R at 169: in allele B*1303 and allele B*1304; requires 2 nucleotide substitutions<li>Y->C at 183: in allele B*1308<li>E->L at 187: in allele B*1303 and allele B*1304</ul>										2
P30462		<ul><li>S->A at 35: in allele B*1402 and allele B*1403<li>L->R at 180: in allele B*1403</ul>										2
P30464		<ul><li>A->S at 48: in allele B*1503<li>MA->EE at 69-70: in allele B*1503<li>E->N at 87: in allele B*1502 and allele B*1511; requires 2 nucleotide substitutions<li>S->C at 91: in allele B*1566<li>S->Y at 91: in allele B*1511<li>TL->II at 118-119: in allele B*1502<li>L->W at 119: in allele B*1504<li>R->T at 121: in allele B*1504<li>H->Y at 137: in allele B*1502<li>W->L at 180: in allele B*1502 and allele B*1503<li>EW->DG at 190-191: in allele B*1519<li>P->L at 274: in allele B*1519</ul>										2
P30466		<ul><li>N->E at 87: in allele B*1812; requires 2 nucleotide substitutions<li>S->F at 91: in allele B*1807<li>Y->D at 98: in allele B*1803<li>R->N at 121: in allele B*1802; requires 2 nucleotide substitutions<li>L->R at 180: in allele B*1813<li>T->E at 187: in allele B*1810; requires 2 nucleotide substitutions<li>H->Y at 195: in allele B*1810 and allele B*1811</ul>										2
P30475		<ul><li>Y->D at 33: in allele B*3912<li>S->A at 35: in allele B*3904 and allele B*3912<li>V->M at 36: in allele B*3904<li>N->E at 87: in allele B*3902, allele B*3908 and allele B*3923; requires 2 nucleotide substitutions<li>C->S at 91: in allele B*3902, allele B*3908 and allele B*3923<li>C->Y at 91: in allele B*3910<li>D->Y at 98: in allele B*3905, allele B*3907 and allele B*3908<li>L->W at 119: in allele B*3906<li>R->S at 121: in allele B*3903 and allele B*3924<li>R->T at 121: in allele B*3906<li>M->T at 122: in allele B*3924<li>Y->S at 123: in allele B*3909<li>N->D at 138: in allele B*3907<li>F->S at 140: in allele B*3907<li>Q->R at 168: in allele B*3923<li>L->R at 180: in allele B*3908</ul>										2
P30479		<ul><li>N->K at 104: in allele B*4105<li>W->L at 119: in allele B*4102, allele B*4103 and allele B*4104<li>R->S at 121: in allele B*4102 and allele B*4104<li>V->L at 127: in allele B*4104<li>N->D at 138: in allele B*4104</ul>										2
P30480		<ul><li>Y->H at 33: in allele B*4202</ul>										2
P30481		<ul><li>T->A at 65: in allele B*4407 and allele B*4408<li>KE->MA at 69-70: in allele B*4408<li>D->E at 85: in allele B*4413<li>E->N at 87: in allele B*4412; requires 2 nucleotide substitutions<li>N->S at 101: in allele B*4409<li>TALR->NLRG at 104-107: in allele B*4409<li>D->Y at 140: in allele B*4405<li>D->L at 180: in allele B*4403, allele B*4407 and allele B*4413; requires 2 nucleotide substitutions<li>D->R at 180: in allele B*4404; requires 2 nucleotide substitutions<li>L->T at 187: in allele B*4404; requires 2 nucleotide substitutions</ul>										2
P30483		<ul><li>Q->R at 139: in allele B*4503<li>S->W at 191: in allele B*4504</ul>										2
P30484		<ul><li>D->G at 98: in allele B*4602</ul>										2
P30485		<ul><li>D->S at 101: in allele B*4702 and allele B*4703; requires 2 nucleotide substitutions<li>T->N at 104: in allele B*4702 and allele B*4703<li>LR->RG at 106-107: in allele B*4702</ul>										2
P30486		<ul><li>S->R at 121: in allele B*4803</ul>										2
P30487		<ul><li>T->A at 48: in allele B*04903<li>L->Q at 56: in allele B*04903<li>T->A at 65: in allele B*04903<li>K->T at 69: in allele B*04903<li>I->T at 104: in allele B*04902</ul>										2
P30488		<ul><li>L->V at 127: in allele B*5004<li>W->S at 191: in allele B*5002</ul>										2
P30490		<ul><li>TE->MA at 69-70: in allele B*5202<li>E->V at 176: in allele B*5203<li>H->Y at 195: in allele B*5203</ul>										2
P30491		<ul><li>N->D at 101: in allele B*5303<li>N->S at 101: in allele B*5305<li>IA->TL at 104-105: in allele B*5303<li>I->T at 118: in allele B*5307<li>Y->S at 123: in allele B*5307<li>L->V at 127: in allele B*5307<li>HD->YN at 137-138: in allele B*5307<li>S->F at 140: in allele B*5304 and allele B*5307<li>V->E at 176: in allele B*5306<li>Y->H at 195: in allele B*5302 and allele B*5306</ul>										2
P30492		<ul><li>Y->H at 33: in allele B*5402<li>AM->SV at 35-36: in allele B*5402</ul>										2
P30493		<ul><li>E->A at 82: in allele B*5505<li>S->N at 101: in allele B*5512<li>W->L at 119: in allele B*5504 and allele B*5508; requires 2 nucleotide substitutions<li>T->R at 121: in allele B*5508<li>T->S at 121: in allele B*5504<li>L->V at 127: in allele B*5504 and allele B*5508<li>L->Y at 140: in allele B*5504 and allele B*5508<li>S->R at 155: in allele B*5504 and allele B*5508<li>E->V at 176: in allele B*5502, allele B*5504, allele B*5508 and allele B*5512<li>L->R at 180: in allele B*5509<li>T->E at 187: in allele B*5509; requires 2 nucleotide substitutions<li>T->L at 187: in allele B*5508; requires 2 nucleotide substitutions</ul>										2
P30495		<ul><li>E->T at 69: in allele B*5606; requires 2 nucleotide substitutions<li>S->N at 101: in allele B*5607<li>NLRG->TALR at 104-107: in allele B*5607<li>W->L at 119: in allele B*5602, allele B*5603 and allele B*5604<li>T->R at 121: in allele B*5602, allele B*5603 and allele B*5604<li>L->V at 127: in allele B*5603, allele B*5604, allele B*5605 and allele B*5606<li>N->D at 138: in allele B*5603<li>L->S at 140: in allele B*5603<li>L->Y at 140: in allele B*5605 and allele B*5606; requires 2 nucleotide substitutions<li>V->E at 176: in allele B*5603, allele B*5605 and allele B*5606<li>L->W at 180: in allele B*5603<li>Y->H at 195: in allele B*5605 and allele B*5606</ul>										2
P30498		<ul><li>F->C at 91: in allele B*7803<li>D->Y at 98: in allele B*7802</ul>										2
P30499		<ul><li>E->A at 5: in allele Cw*0102, allele CW*0103 and allele CW*0104<li>N->K at 92: in allele Cw*0102, allele CW*0103 and allele CW*0104<li>D->N at 138: in allele CW*0103<li>Y->F at 140: in allele CW*0103<li>Y->S at 140: in allele CW*0104<li>E->Q at 179: in allele Cw*0102, allele Cw*0103 and allele CW*0104<li>R->W at 180: in allele Cw*0104<li>S->T at 202: in allele Cw*0102, allele CW*0103 and allele CW*0104<li>W->R at 243: in allele CW*0104<li>M->V at 272: in allele CW*0104<li>V->M at 328: in allele CW*0104<li>S->C at 364: in allele Cw*0102, allele CW*0103 and allele CW*0104</ul>										2
P30501		<ul><li>E->A at 5: in allele Cw*0202<li>I->L at 10: in allele Cw*0202<li>GR->AP at 73-74: in allele Cw*0202<li>N->K at 92: in allele Cw*0202<li>E->Q at 179: in allele Cw*0202<li>K->T at 202: in allele Cw*0202<li>S->C at 364: in allele Cw*0202</ul>										2
P30504		<ul><li>S->Y at 33: in allele Cw*0403 and allele Cw*0406<li>S->A at 35: in allele Cw*0403 and allele Cw*0406<li>W->R at 38: in allele Cw*0403 and allele Cw*0406<li>G->S at 40: in allele Cw*0403 and allele Cw*0406<li>R->H at 45: in allele Cw*0403 and allele Cw*0406<li>V->L at 52: in allele Cw*0405<li>E->A at 73: in allele Cw*0403 and allele Cw*0406<li>R->L at 180: in allele Cw*0404 and allele Cw*0406<li>M->V at 327: in allele Cw*0403 and allele Cw*0406</ul>										2
P30505		<ul><li>T->K at 162: in allele Cw*0802<li>T->E at 176: in allele Cw*0802; requires 2 nucleotide substitutions<li>L->R at 180: in allele Cw*0802<li>G->R at 199: in allele CW*0803</ul>										2
P30508		<ul><li>K->N at 90: in allele Cw*1208<li>A->T at 97: in allele Cw*1205 and allele Cw*1209<li>S->G at 101: in allele Cw*1207<li>S->N at 101: in allele Cw*1204, allele Cw*1205 and allele Cw*1209<li>N->K at 104: in allele Cw*1204, allele Cw*1205 and allele Cw*1209<li>R->W at 121: in allele Cw*1203, allele Cw*1204, allele Cw*1205, allele Cw*1206, allele Cw*1207 and allele Cw*1209<li>G->V at 144: in allele Cw*1206<li>W->R at 180: in allele Cw*1209<li>H->P at 208<li>A->T at 363</ul>										2
P30510		<ul><li>R->H at 45: in allele Cw*1403<li>T->A at 97: in allele Cw*1404<li>S->N at 101: in allele Cw*1403</ul>										2
P30511	3134	<ul><li>S->P at 272: in dbSNP:rs1736924</ul>									rs1736924	2
P30512	649853	<ul><li>N->H at 90: in allele A*2904<li>H->D at 126: in allele A*2902, allele A*2903 and allele A*2904<li>EW->DG at 190-191: in allele A*2903</ul>										2
P30518	554	<ul><li>T->S at 7: in dbSNP:rs5196<li>G->E at 12: in dbSNP:rs2071126<li>A->V at 42: in dbSNP:rs5198<li>L->P at 43: in XNDI, MIM: 304800<li>L->P at 44: in XNDI, MIM: 304800<li>I->K at 46: in XNDI, MIM: 304800<li>L->R at 53: in XNDI, MIM: 304800<li>N->D at 55: in XNDI, MIM: 304800<li>N->H at 55: in XNDI, MIM: 304800<li>L->P at 59: in XNDI, MIM: 304800<li>A->V at 61, MIM: 304800<li>Missing  at 62-64: in XNDI, MIM: 304800<li>L->P at 62: in XNDI, MIM: 304800<li>R->W at 64, MIM: 304800<li>H->R at 80: in XNDI, MIM: 304800<li>L->F at 81: in XNDI, MIM: 304800<li>L->P at 83: in XNDI, MIM: 304800<li>L->Q at 83: in XNDI, MIM: 304800<li>A->D at 84: in XNDI, MIM: 304800<li>D->N at 85: in XNDI, MIM: 304800<li>V->M at 88: in XNDI, MIM: 304800<li>Q->R at 92: in XNDI, MIM: 304800<li>L->Q at 94: in XNDI, MIM: 304800<li>P->L at 95: in XNDI, MIM: 304800<li>W->R at 99: in XNDI, MIM: 304800<li>R->C at 104: in XNDI; binding capacity is 10% of wild-type, but binding affinity is stronger than wild-type, MIM: 304800<li>F->V at 105: in XNDI, MIM: 304800<li>R->C at 106: in XNDI, MIM: 304800<li>G->E at 107: in XNDI, MIM: 304800<li>C->R at 112: in XNDI, MIM: 304800<li>C->Y at 112: in XNDI, MIM: 304800<li>R->W at 113: in XNDI; dbSNP:rs28935496, MIM: 304800<li>G->R at 122: in XNDI, MIM: 304800<li>M->K at 123: in XNDI, MIM: 304800<li>S->F at 126: in XNDI, MIM: 304800<li>S->F at 127: in XNDI, MIM: 304800<li>Y->S at 128: in XNDI, MIM: 304800<li>I->F at 130: in XNDI, MIM: 304800<li>A->D at 132: in XNDI, MIM: 304800<li>L->P at 135: in XNDI, MIM: 304800<li>R->C at 137: in NSIAD; constitutively active, MIM: 300539<li>R->H at 137: in XNDI; fails to activate the adenylyl cyclase system, MIM: 304800<li>R->L at 137: in NSIAD; constitutively active, MIM: 300539<li>R->S at 139, MIM: 300539<li>R->P at 143: in XNDI, MIM: 304800<li>A->V at 147: in dbSNP:rs5200, MIM: 304800<li>A->P at 163: in XNDI, MIM: 304800<li>W->S at 164: in XNDI, MIM: 304800<li>S->L at 167: in XNDI, MIM: 304800<li>S->T at 167: in XNDI, MIM: 304800<li>P->S at 173: in XNDI, MIM: 304800<li>Q->L at 174: in XNDI, MIM: 304800<li>R->C at 181: in XNDI, MIM: 304800<li>G->C at 185: in XNDI, MIM: 304800<li>D->G at 191: in XNDI, MIM: 304800<li>G->D at 201: in XNDI, MIM: 304800<li>R->C at 202: in XNDI, MIM: 304800<li>R->C at 203: in XNDI, MIM: 304800<li>T->N at 204: in XNDI, MIM: 304800<li>Y->C at 205: in XNDI, MIM: 304800<li>V->D at 206: in XNDI, MIM: 304800<li>T->N at 207: in XNDI, MIM: 304800<li>I->F at 209: in XNDI, MIM: 304800<li>F->S at 214: in XNDI, MIM: 304800<li>V->M at 215, MIM: 304800<li>P->T at 217: in XNDI, MIM: 304800<li>L->P at 219: in XNDI, MIM: 304800<li>L->R at 219: in XNDI, MIM: 304800<li>Missing  at 247-250: in XNDI, MIM: 304800<li>R->H at 247: in a breast cancer sample; somatic mutation, MIM: 304800<li>R->W at 252, MIM: 304800<li>M->K at 272: in XNDI, MIM: 304800<li>V->A at 277: in XNDI, MIM: 304800<li>Missing  at 277: in CDNI, MIM: 304800<li>Y->C at 280: in CDNI, MIM: 304800<li>L->P at 282: in XNDI, MIM: 304800<li>A->P at 285: in CDNI, MIM: 304800<li>P->L at 286: in XNDI, MIM: 304800<li>P->R at 286: in XNDI, MIM: 304800<li>P->S at 286: in XNDI, MIM: 304800<li>F->L at 287: in XNDI, MIM: 304800<li>L->P at 289: in XNDI, MIM: 304800<li>L->P at 292: in XNDI, MIM: 304800<li>A->P at 294: in XNDI, MIM: 304800<li>L->P at 309: in XNDI, MIM: 304800<li>L->R at 309: in XNDI, MIM: 304800<li>S->R at 315: in XNDI, MIM: 304800<li>N->K at 317: in XNDI, MIM: 304800<li>S->T at 318, MIM: 304800<li>C->R at 319: in XNDI, MIM: 304800<li>N->D at 321: in XNDI, MIM: 304800<li>N->K at 321: in XNDI, MIM: 304800<li>N->Y at 321: in XNDI, MIM: 304800<li>P->H at 322: in XNDI, MIM: 304800<li>P->S at 322: in XNDI, MIM: 304800<li>W->R at 323: in XNDI, MIM: 304800<li>W->S at 323: in XNDI, MIM: 304800<li>G->D at 352, MIM: 304800</ul>			binding	GO:0005488			<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>Q9WXC3</li><li>Q99279</li><li>P0A1A7</li><li>P0A1A8</li><li>Q05766</li><li>Q57506</li><li>P40134</li><li>Q99280</li><li>P40135</li><li>Q26896</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P40136</li><li>P26338</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>P15318</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q26721</li><li>Q25263</li><li>Q01631</li><li>Q99396</li><li>Q27675</li>	<li>Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]</li><li>Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]</li>	<li>rs28935496</li><li>rs2071126</li><li>rs5200</li><li>rs5198</li><li>rs5196</li>	2
P30519	3163	<ul><li>R->Q at 137: in dbSNP:rs17884623<li>P->L at 146: in dbSNP:rs17880805</ul>									<li>rs17884623</li><li>rs17880805</li>	2
P30520	159	<ul><li>L->F at 179: in dbSNP:rs12134870</ul>									rs12134870	2
P30530	558	<ul><li>T->M at 105<li>R->W at 288: in a lung neuroendocrine carcinoma sample; somatic mutation<li>R->C at 492: in a gastric adenocarcinoma sample; somatic mutation<li>S->G at 508: in dbSNP rsrs35538872</ul>									rs35538872	2
P30532	1138	<ul><li>V->I at 134: in dbSNP:rs2229961<li>D->N at 398: associated with susceptibility to lung cancer; dbSNP:rs16969968</ul>									<li>rs16969968</li><li>rs2229961</li>	2
P30533	4043	<ul><li>N->S at 114: in dbSNP:rs2228158<li>V->M at 311: in dbSNP:rs1800493</ul>									<li>rs1800493</li><li>rs2228158</li>	2
P30536	706	<ul><li>A->T at 147: in dbSNP:rs6971<li>H->R at 162: in dbSNP:rs6972<li>E->Q at 169: in dbSNP:rs9333342</ul>									<li>rs9333342</li><li>rs6971</li><li>rs6972</li>	2
P30542	134	<ul><li>A->S at 43: in dbSNP:rs11547175<li>S->P at 50: in dbSNP:rs11547174<li>R->H at 105: in dbSNP:rs11547176<li>E->K at 170: in a colorectal cancer sample; somatic mutation<li>P->Q at 261: in dbSNP:rs17852405</ul>									<li>rs17852405</li><li>rs11547176</li><li>rs11547175</li><li>rs11547174</li>	2
P30556	185	<ul><li>L->V at 48: in dbSNP:rs2011425<li>A->T at 163: in dbSNP:rs12721226<li>A->S at 244: in dbSNP:rs12721225<li>T->M at 282: in RTD, MIM: 267430<li>C->W at 289: in dbSNP:rs1064533, MIM: 267430<li>T->P at 336: in dbSNP:rs1801021, MIM: 267430</ul>								Renal tubular dysgenesis (RTD) [MIM:267430]	<li>rs2011425</li><li>rs1064533</li><li>rs1801021</li><li>rs12721226</li><li>rs12721225</li>	2
P30559	5021	<ul><li>A->S at 16: in dbSNP:rs237906<li>A->T at 218: in dbSNP:rs4686302</ul>									<li>rs4686302</li><li>rs237906</li>	2
P30566	158	<ul><li>A->V at 2: in ADSL deficiency; severe, MIM: 103050<li>A->V at 3: in ADSL deficiency; severe, MIM: 103050<li>M->L at 26: in ADSL deficiency; severe, MIM: 103050<li>S->N at 31: in dbSNP:rs5757921, MIM: 103050<li>I->V at 72: in ADSL deficiency; severe, MIM: 103050<li>P->A at 100: in ADSL deficiency; moderate, MIM: 103050<li>Y->H at 114: in ADSL deficiency; severe. Total loss of activity, MIM: 103050<li>R->W at 141: in ADSL deficiency; severe, MIM: 103050<li>K->M at 147: in dbSNP:rs11089991, MIM: 103050<li>R->Q at 190: in ADSL deficiency; moderate: in dbSNP rsrs28941471, MIM: 103050<li>R->C at 194: in ADSL deficiency; severe, MIM: 103050<li>K->E at 246: in ADSL deficiency; moderate, MIM: 103050<li>D->N at 268: in ADSL deficiency; severe. Total loss of activity, MIM: 103050<li>R->C at 303: in ADSL deficiency; mild, MIM: 103050<li>L->V at 311: in ADSL deficiency; severe, MIM: 103050<li>P->L at 318: in ADSL deficiency; severe, MIM: 103050<li>V->M at 364: in ADSL deficiency; severe, MIM: 103050<li>R->W at 374: in ADSL deficiency; severe, MIM: 103050<li>S->R at 395: in ADSL deficiency; severe, MIM: 103050<li>R->C at 396: in ADSL deficiency; severe, MIM: 103050<li>R->H at 396: in ADSL deficiency; severe, MIM: 103050<li>D->Y at 422: in ADSL deficiency; moderate, MIM: 103050<li>L->V at 423: in ADSL deficiency; moderate, MIM: 103050<li>R->H at 426: in ADSL deficiency; severe. Most frequent mutation, MIM: 103050<li>D->N at 430: in ADSL deficiency; mild, MIM: 103050<li>S->P at 438: in ADSL deficiency; severe, MIM: 103050<li>S->P at 447: in ADSL deficiency; severe, MIM: 103050<li>T->S at 450: in ADSL deficiency; moderate, MIM: 103050<li>R->P at 452: in ADSL deficiency; severe, MIM: 103050</ul>							<li>P21265</li><li>Q8HXY5</li><li>P30566</li>	Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	<li>rs28941471</li><li>rs11089991</li><li>rs5757921</li>	2
P30613	5313	<ul><li>G->E at 37: in pyruvate kinase hyperactivity, MIM: 102900<li>S->P at 80: in CNSHA, MIM: 266200<li>R->P at 86: in CNSHA, MIM: 266200<li>I->N at 90: in CNSHA, MIM: 266200<li>G->R at 95: in CNSHA, MIM: 266200<li>M->T at 107: in CNSHA, MIM: 266200<li>G->R at 111: in CNSHA, MIM: 266200<li>A->P at 115: in CNSHA; Val de Marne, MIM: 266200<li>S->F at 120: in CNSHA; Beaujon, MIM: 266200<li>S->Y at 130: in CNSHA; Conakry, MIM: 266200<li>Missing  at 131: in CNSHA, MIM: 266200<li>V->D at 134: in CNSHA, MIM: 266200<li>I->T at 153: in CNSHA, MIM: 266200<li>L->P at 155: in CNSHA, MIM: 266200<li>G->V at 159: in CNSHA, MIM: 266200<li>R->C at 163: in CNSHA; Linz, MIM: 266200<li>E->Q at 172: in CNSHA; Sassari, MIM: 266200<li>I->T at 219: in CNSHA, MIM: 266200<li>D->DD at 221: in CNSHA, MIM: 266200<li>G->A at 222: in CNSHA; Katsushika, MIM: 266200<li>G->R at 263: in CNSHA, MIM: 266200<li>G->W at 263: in CNSHA, MIM: 266200<li>G->R at 275: in CNSHA, MIM: 266200<li>D->N at 281: in CNSHA, MIM: 266200<li>F->V at 287: in CNSHA, MIM: 266200<li>V->L at 288: in CNSHA; Moriguchi, MIM: 266200<li>D->N at 293: in CNSHA, MIM: 266200<li>A->V at 295: in CNSHA, MIM: 266200<li>I->N at 310: in CNSHA; Dordrecht, MIM: 266200<li>I->T at 314: in CNSHA; Hong Kong, MIM: 266200<li>E->K at 315: in CNSHA, MIM: 266200<li>D->E at 331: in CNSHA; Parma, MIM: 266200<li>D->N at 331: in CNSHA, MIM: 266200<li>G->S at 332: in CNSHA, MIM: 266200<li>V->M at 335: in CNSHA, MIM: 266200<li>A->S at 336: in CNSHA, MIM: 266200<li>R->P at 337: in CNSHA, MIM: 266200<li>R->Q at 337: in CNSHA, MIM: 266200<li>D->H at 339: in CNSHA, MIM: 266200<li>G->A at 341: in CNSHA, MIM: 266200<li>G->D at 341: in CNSHA, MIM: 266200<li>I->F at 342: in CNSHA, MIM: 266200<li>K->N at 348: in CNSHA; Kamata, MIM: 266200<li>Missing  at 348: in CNSHA; Brescia, MIM: 266200<li>A->D at 352: in CNSHA, MIM: 266200<li>Missing  at 354: in CNSHA, MIM: 266200<li>I->T at 357: in CNSHA, MIM: 266200<li>R->C at 359: in CNSHA; Aomori, MIM: 266200<li>R->H at 359: in CNSHA, MIM: 266200<li>N->D at 361: in CNSHA, MIM: 266200<li>G->D at 364: in CNSHA; Tjaereborg, MIM: 266200<li>V->F at 368: in CNSHA; Osaka, MIM: 266200<li>S->I at 376: in CNSHA, MIM: 266200<li>T->M at 384: in CNSHA; Tokyo/Beirut; most common mutation in Japanese population, MIM: 266200<li>R->W at 385: in CNSHA, MIM: 266200<li>E->G at 387: in CNSHA, MIM: 266200<li>D->N at 390: in CNSHA; Mantova, MIM: 266200<li>A->T at 392: in CNSHA, MIM: 266200<li>N->K at 393: in CNSHA, MIM: 266200<li>N->S at 393: in CNSHA; Paris, MIM: 266200<li>A->D at 394: in CNSHA, MIM: 266200<li>A->V at 394: in CNSHA, MIM: 266200<li>C->CS at 401: in CNSHA, MIM: 266200<li>T->A at 408: in CNSHA; Hirosaki, MIM: 266200<li>T->I at 408: in CNSHA, MIM: 266200<li>Q->K at 421: in CNSHA; Fukushima/Maebashi/Sendai, MIM: 266200<li>R->Q at 426: in CNSHA; Sapporo, MIM: 266200<li>R->W at 426: in CNSHA; Naniwa, MIM: 266200<li>E->A at 427: in CNSHA, MIM: 266200<li>E->D at 427: in CNSHA, MIM: 266200<li>A->T at 431: in CNSHA, MIM: 266200<li>G->D at 458: in CNSHA, MIM: 266200<li>A->V at 459: in CNSHA, MIM: 266200<li>V->M at 460: in CNSHA, MIM: 266200<li>A->G at 468: in CNSHA, MIM: 266200<li>A->V at 468: in CNSHA; Hadano, MIM: 266200<li>T->A at 477: in CNSHA, MIM: 266200<li>R->H at 479: in CNSHA; Amish, MIM: 266200<li>S->F at 485: in CNSHA, MIM: 266200<li>R->W at 486: in CNSHA; frequent mutation, MIM: 266200<li>R->Q at 488: in CNSHA, MIM: 266200<li>R->W at 490: in CNSHA, MIM: 266200<li>A->T at 495: in CNSHA, MIM: 266200<li>A->V at 495: in CNSHA, MIM: 266200<li>R->C at 498: in CNSHA, MIM: 266200<li>R->H at 498: in CNSHA, MIM: 266200<li>R->L at 504: in CNSHA, MIM: 266200<li>V->I at 506: in dbSNP:rs8177988, MIM: 266200<li>R->Q at 510: in CNSHA; the most common mutation in European population, MIM: 266200<li>G->R at 511: in CNSHA, MIM: 266200<li>R->C at 531: in CNSHA, MIM: 266200<li>R->Q at 532: in CNSHA, MIM: 266200<li>R->W at 532: in CNSHA, MIM: 266200<li>V->M at 552: in CNSHA, MIM: 266200<li>G->A at 557: in CNSHA, MIM: 266200<li>R->G at 559: in CNSHA, MIM: 266200<li>N->K at 566: in CNSHA, MIM: 266200<li>R->Q at 569: in CNSHA, MIM: 266200</ul>							<li>P94939</li><li>P30614</li><li>P78031</li><li>P46614</li><li>Q02499</li><li>O06134</li><li>P43924</li><li>Q12669</li><li>Q875M9</li><li>O62619</li><li>Q8K9M3</li><li>Q27686</li><li>Q9Z984</li><li>Q7RVA8</li><li>P94685</li><li>Q04668</li><li>Q6BS75</li><li>O94122</li><li>Q89AI8</li><li>Q07637</li><li>P34038</li><li>Q875S4</li><li>Q10208</li><li>P70789</li><li>P47458</li><li>P51182</li><li>P51181</li><li>P80885</li><li>O08309</li><li>Q46078</li><li>Q44473</li><li>Q759A9</li><li>P32044</li><li>O51323</li><li>Q46289</li><li>O05118</li><li>Q9PK61</li><li>P81344</li><li>Q27788</li><li>Q875Z9</li><li>P31865</li><li>O44006</li><li>Q57572</li><li>P22360</li><li>Q56301</li><li>P19680</li><li>P57404</li><li>Q8FP04</li>	<li>Chronic nonspherocytic hemolytic anemia (CNSHA) [MIM:266200]</li><li>Pyruvate kinase hyperactivity [MIM:102900]</li>	rs8177988	2
P30622	6249	<ul><li>R->W at 769: in dbSNP:rs3741447<li>S->P at 930: in dbSNP:rs17883517<li>D->E at 1069: in dbSNP:rs1129167<li>M->I at 1202: in a breast cancer sample; somatic mutation<li>A->S at 1213: in dbSNP:rs17881033</ul>									<li>rs1129167</li><li>rs3741447</li><li>rs17883517</li><li>rs17881033</li>	2
P30679	2769	<ul><li>C->Y at 147: in dbSNP:rs310680</ul>									rs310680	2
P30685		<ul><li>G->V at 40: in allele B*3507<li>A->S at 48: in allele B*3525<li>T->E at 69: in allele B*3525; requires 2 nucleotide substitutions<li>N->E at 87: in allele B*3528; requires 2 nucleotide substitutions<li>F->S at 91: in allele B*3528<li>Y->D at 98: in allele B*3529<li>G->D at 107: in allele B*3536<li>II->TL at 118-119: in allele B*3505 and allele B*3532<li>R->S at 121: in allele B*3505 and allele B*3530<li>L->V at 127: in allele B*3532<li>L->F at 133: in allele B*3502<li>D->N at 138: in allele B*3502, allele B*3504 and allele B*3506<li>S->F at 140: in allele B*3506 and allele B*3536<li>S->Y at 140: in allele B*3502, allele B*3503 and allele B*3504<li>L->R at 180: in allele B*3508</ul>										2
P30711	2952	<ul><li>A->T at 21: in dbSNP:rs2266635<li>D->N at 141: in dbSNP:rs2266633<li>V->I at 169: in dbSNP:rs2266637<li>E->K at 173: in dbSNP:rs2234953</ul>									<li>rs2266637</li><li>rs2234953</li><li>rs2266633</li><li>rs2266635</li>	2
P30712	2953	<ul><li>E->K at 129: in dbSNP:rs140195<li>M->I at 139: in dbSNP:rs1622002</ul>									<li>rs140195</li><li>rs1622002</li>	2
P30740	1992	<ul><li>A->V at 82: in dbSNP:rs34825616</ul>									rs34825616	2
P30793	2643	<ul><li>G->D at 15: in HGCH-3<li>P->L at 23: in DYT5: in dbSNP rsrs41298432, MIM: 128230<li>L->Q at 71: in DYT5, MIM: 128230<li>A->V at 74: in DYT5, MIM: 128230<li>L->P at 79: in DYT5, MIM: 128230<li>G->A at 83: in DYT5, MIM: 128230<li>Missing  at 88-89: in DYT5, MIM: 128230<li>R->P at 88: in DYT5, MIM: 128230<li>R->W at 88: in DYT5, MIM: 128230<li>G->V at 90: in DYT5, MIM: 128230<li>M->K at 102: in DYT5, MIM: 128230<li>M->R at 102: in DYT5, MIM: 128230<li>T->I at 106: in DYT5, MIM: 128230<li>G->D at 108: in GCH1D; phenotype presenting with dystonia and motor delay, MIM: 128230<li>D->N at 115: in DYT5, MIM: 128230<li>D->V at 134: in DYT5, MIM: 128230<li>I->K at 135: in DYT5, MIM: 128230<li>C->R at 141: in DYT5, MIM: 128230<li>C->W at 141: in DYT5, MIM: 128230<li>H->P at 144: in DYT5, MIM: 128230<li>H->P at 153: in DYT5, MIM: 128230<li>L->R at 163: in DYT5, MIM: 128230<li>S->T at 176: in DYT5, MIM: 128230<li>R->S at 178: in DYT5, MIM: 128230<li>Q->R at 180: in DYT5, MIM: 128230<li>R->H at 184: in GCH1D; severe hyperphenylalaninemia, MIM: 233910<li>T->K at 186: in DYT5, MIM: 128230<li>V->I at 191: in DYT5, MIM: 128230<li>P->L at 199: in DYT5, MIM: 128230<li>G->E at 201: in DYT5, MIM: 128230<li>G->R at 203: in DYT5, MIM: 128230<li>M->I at 211: in GCH1D; severe hyperphenylalaninemia, MIM: 233910<li>M->V at 211: in DYT5, MIM: 128230<li>M->V at 213: in DYT5, MIM: 128230<li>M->T at 221: in GCH1D; a patient presenting with dystonia and motor delay; compound heterozygote for an additional deletion, MIM: 128230<li>K->R at 224: in GCH1D and DYT5; phenotype presenting with dystonia and myoclonus: in dbSNP rsrs41298442, MIM: 128230<li>F->S at 234: in DYT5, MIM: 128230<li>R->W at 241: in DYT5, MIM: 128230<li>R->S at 249: in DYT5, MIM: 128230</ul>							P30793	<li>Autosomal dominant dopa-responsive dystonia (DRD) [MIM:128230]</li><li>Atypical severe phenylketonuria (PKU) [MIM:233910]</li>	<li>rs41298442</li><li>rs41298432</li>	2
P30837	219	<ul><li>A->V at 86: in allele ALDHA1B1*2; dbSNP:rs2228093<li>L->R at 107: in allele ALDHA1B1*3; dbSNP:rs2073478<li>T->I at 202: in dbSNP:rs4646773<li>M->V at 253: in dbSNP:rs4878199</ul>									<li>rs2228093</li><li>rs4878199</li><li>rs2073478</li><li>rs4646773</li>	2
P30838	218	<ul><li>A->S at 134: in dbSNP:rs887241<li>G->E at 309: in dbSNP:rs3744692<li>P->A at 329: in allele ALDH3A1*2; dbSNP:rs2228100</ul>							<li>P30838</li><li>P30907</li>		<li>rs3744692</li><li>rs2228100</li><li>rs887241</li>	2
P30926	1143	<ul><li>T->I at 91: in dbSNP:rs12914008<li>R->W at 136<li>S->G at 140: in dbSNP rsrs56218866<li>M->V at 467</ul>									<li>rs56218866</li><li>rs12914008</li>	2
P30953	8387	<ul><li>P->L at 129: in dbSNP:rs1735011<li>A->T at 143: in dbSNP rsrs150989<li>S->P at 262: in dbSNP:rs379856</ul>									<li>rs150989</li><li>rs379856</li><li>rs1735011</li>	2
P30954	26476	<ul><li>I->M at 62: in dbSNP:rs10908722<li>M->I at 103: in dbSNP:rs12048482<li>M->I at 112: in dbSNP:rs12118628</ul>									<li>rs12118628</li><li>rs10908722</li><li>rs12048482</li>	2
P30968	2798	<ul><li>N->K at 10: in IHH; is able to bind GnRH but with a reduced affinity in vitro, MIM: 146110<li>E->K at 90: in IHH; virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover; impairs GnRHR-effector coupling, MIM: 146110<li>Q->R at 106: in IHH and fertile eunuch syndrome; decreases but does not eliminate GnRH binding, MIM: 146110<li>A->D at 129: in IHH; complete loss of function, MIM: 146110<li>R->H at 139: in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro, MIM: 146110<li>S->R at 168: in IHH; complete loss of the receptor-mediated signaling response, MIM: 146110<li>A->T at 171: in IHH; complete loss of ligand binding and receptor activation; specific receptor binding of radioisotope-labeled GnRH ligand is undetectable in transfected cells, MIM: 146110<li>S->R at 217: in IHH; altered hormone binding, MIM: 146110<li>R->Q at 262: in IHH; minimal effects upon receptor affinity but expression decreased; altered activation of phospholipase C, MIM: 146110<li>Y->C at 284: in IHH; minimal effects upon receptor affinity but receptor expression decreased: in dbSNP rsrs28933074, MIM: 146110</ul>			<li>binding</li><li>hormone binding</li><li>receptor binding</li>	<li>GO:0005488</li><li>GO:0042562</li><li>GO:0005102</li>			<li>Q98938</li><li>Q01776</li><li>P79871</li><li>Q14623</li><li>Q8CH60</li><li>P79852</li><li>Q19PY9</li><li>O13243</li><li>P97812</li><li>P32237</li><li>P32236</li><li>Q91612</li><li>P79693</li><li>P79860</li><li>P49922</li><li>P30969</li><li>P30968</li><li>P79866</li><li>Q8SPZ1</li><li>O13220</li><li>O13240</li><li>Q9MZI6</li><li>P79719</li><li>O13215</li><li>P27429</li><li>Q9TTI8</li><li>P79711</li><li>O18821</li>	<li>Fertile eunuch syndrome [MIM:228300]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li>	rs28933074	2
P30988	799	<ul><li>P->L at 463: in dbSNP:rs1801197</ul>									rs1801197	2
P30989	4923	<ul><li>Q->H at 275: in dbSNP:rs35373650<li>V->I at 304: in dbSNP:rs2273075</ul>									<li>rs2273075</li><li>rs35373650</li>	2
P31040	6389	<ul><li>F->V at 33: in dbSNP:rs1061518<li>D->V at 38: in dbSNP:rs34635677<li>E->Q at 240: in dbSNP:rs1041946<li>A->V at 524: in LS, MIM: 256000<li>R->W at 554: in LS, MIM: 256000<li>G->E at 555: in complex II deficiency and LS, MIM: 256000<li>V->I at 657: in dbSNP:rs6962, MIM: 256000</ul>								Leigh syndrome (LS) [MIM:256000]	<li>rs1061518</li><li>rs6962</li><li>rs34635677</li><li>rs1041946</li>	2
P31146	11151	<ul><li>R->K at 415: in dbSNP:rs1804109<li>T->P at 443: in dbSNP:rs1053574</ul>									<li>rs1804109</li><li>rs1053574</li>	2
P31150	2664	<ul><li>L->P at 92: in MRX41; causes reduced binding and recycling of RAB3A, MIM: 300104<li>R->P at 423: in MRX48, MIM: 300104</ul>			binding	GO:0005488			<li>P20336</li><li>Q4R4R9</li><li>P11023</li>	<li>Mental retardation X-linked type 48 (MRX48) [MIM:300104]</li><li>Mental retardation X-linked type 41 (MRX41) [MIM:300104]</li>		2
P31151	6278	<ul><li>E->D at 28: in dbSNP:rs3014837</ul>									rs3014837	2
P31152	5596	<ul><li>V->M at 38: in dbSNP:rs3752087<li>R->P at 371: in dbSNP rsrs3752089</ul>									<li>rs3752089</li><li>rs3752087</li>	2
P31213	6716	<ul><li>A->T at 49<li>L->Q at 55: in PPSH, MIM: 264600<li>G->D at 85: in PPSH, MIM: 264600<li>V->L at 89: in dbSNP:rs523349, MIM: 264600<li>L->V at 113, MIM: 264600<li>G->D at 115: in PPSH, MIM: 264600<li>G->R at 123: in PPSH, MIM: 264600<li>Q->R at 126: in PPSH, MIM: 264600<li>R->W at 145: in PPSH, MIM: 264600<li>Missing  at 157: in PPSH, MIM: 264600<li>G->R at 158: in PPSH, MIM: 264600<li>P->L at 181: in PPSH, MIM: 264600<li>G->S at 183: in PPSH, MIM: 264600<li>G->S at 196: in PPSH, MIM: 264600<li>E->D at 197: in PPSH, MIM: 264600<li>E->K at 200: in PPSH, MIM: 264600<li>A->D at 207: in PPSH, MIM: 264600<li>P->R at 212: in PPSH, MIM: 264600<li>L->M at 224: in dbSNP:rs9332963, MIM: 264600<li>R->Q at 227: in micropenis, MIM: 264600<li>A->T at 228: in PPSH, MIM: 264600<li>H->R at 231: in PPSH, MIM: 264600<li>Y->F at 235: in PPSH, MIM: 264600<li>S->Y at 245: in PPSH, MIM: 264600<li>R->Q at 246: in PPSH, MIM: 264600<li>R->W at 246: in PPSH, MIM: 264600</ul>								Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	<li>rs9332963</li><li>rs523349</li>	2
P31249	3232	<ul><li>S->C at 129: in dbSNP:rs1051932</ul>									rs1051932	2
P31268	3204	<ul><li>T->A at 18: in dbSNP:rs2301721</ul>									rs2301721	2
P31271	3209	<ul><li>A->AAAAAAA at 125: in HFGS<li>A->AAAAAAAAA at 129: in HFGS<li>Q->L at 371: in Guttmacher syndrome, MIM: 176305<li>N->H at 372: in HFGS; severe, MIM: 140000</ul>								<li>Hand-foot-genital syndrome (HFGS) [MIM:140000]</li><li>Guttmacher syndrome [MIM:176305]</li>		2
P31274	3225	<ul><li>G->S at 87: in a colorectal cancer sample; somatic mutation</ul>										2
P31276	3229	<ul><li>S->I at 50: in dbSNP:rs1867298</ul>									rs1867298	2
P31277	3237	<ul><li>G->D at 245</ul>										2
P31323	5577	<ul><li>E->D at 335: in dbSNP:rs3729881</ul>									rs3729881	2
P31327	1373	<ul><li>H->R at 337: in CPS1D; dbSNP:rs28940283, MIM: 237300<li>T->A at 344: in dbSNP:rs1047883, MIM: 237300<li>V->G at 457: in CPS1D, MIM: 237300<li>T->M at 544: in CPS1D, MIM: 237300<li>Q->R at 810: in CPS1D, MIM: 237300<li>L->S at 843: in CPS1D, MIM: 237300<li>R->H at 850: in CPS1D, MIM: 237300<li>K->E at 875: in CPS1D, MIM: 237300<li>S->P at 918: in CPS1D, MIM: 237300<li>F->S at 1266: in dbSNP:rs1047886, MIM: 237300<li>M->L at 1283: in dbSNP:rs1047887, MIM: 237300<li>G->S at 1376, MIM: 237300<li>T->N at 1406: 30-40% higher activity; risk factor for persistent pulmonary hypertension of the newborn; dbSNP:rs1047891, MIM: 237300</ul>								Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	<li>rs1047887</li><li>rs1047883</li><li>rs1047886</li><li>rs28940283</li><li>rs1047891</li>	2
P31358	1043	<ul><li>NI->SM at 40-41<li>N->S at 40: in dbSNP:rs1071849<li>I->M at 41: in dbSNP:rs17645</ul>									<li>rs17645</li><li>rs1071849</li>	2
P31371	2254	<ul><li>I->V at 94: in dbSNP:rs12427696</ul>									rs12427696	2
P31391	6754	<ul><li>N->T at 83: in dbSNP:rs1065191<li>G->D at 236: in dbSNP:rs35601930<li>F->V at 284: in dbSNP:rs3746726<li>F->S at 321: in dbSNP:rs2567608</ul>									<li>rs35601930</li><li>rs2567608</li><li>rs1065191</li><li>rs3746726</li>	2
P31415	844	<ul><li>Y->F at 134: in dbSNP:rs34489853</ul>									rs34489853	2
P31431	6385	<ul><li>F->L at 12: in dbSNP:rs4458268</ul>									rs4458268	2
P31512	2329	<ul><li>I->T at 37<li>T->S at 308: in dbSNP:rs3737925<li>V->A at 323: in dbSNP:rs1042767<li>E->Q at 339: in dbSNP rsrs61342270<li>G->S at 372: in dbSNP rsrs45599742<li>F->L at 536: in dbSNP rsrs45487792<li>L->R at 544: in dbSNP rsrs45528740</ul>									<li>rs3737925</li><li>rs45487792</li><li>rs45528740</li><li>rs61342270</li><li>rs45599742</li><li>rs1042767</li>	2
P31513	2328	<ul><li>E->D at 24: modest increase in catalytic efficiency toward trimethylamine, methimazole, ethylenethiourea and sulindac<li>E->K at 32: in TMAU, MIM: 602079<li>A->T at 52: in TMAU, MIM: 602079<li>N->K at 61: loss of activity, MIM: 602079<li>N->S at 61: in TMAU; more than 90% reduction in catalytic efficiency toward trimethylamine, benzydamine and methyl p-tolyl sulfide, MIM: 602079<li>M->I at 66: in TMAU; loss of activity; affects FAD binding, MIM: 602079<li>D->H at 132: in dbSNP:rs12072582, MIM: 602079<li>P->L at 153: in TMAU; 90% reduction in catalytic efficiency toward trimethylamine and benzydamine; 34% reduction in catalytic efficiency toward methyl p-tolyl sulfide; nearly no effect on affinity for these substrates, MIM: 602079<li>E->K at 158: 35%, 45% and 71% increase in catalytic efficiency toward trimethylamine, benzydamine and methyl p-tolyl sulfide, respectively; dbSNP:rs2266782, MIM: 602079<li>D->E at 198, MIM: 602079<li>R->C at 205: in dbSNP:rs28363549, MIM: 602079<li>V->M at 257: 65% increase in catalytic efficiency toward trimethylamine and 60% reduction toward benzydamine and methyl p-tolyl sulfide; dbSNP:rs1736557, MIM: 602079<li>V->A at 277: in dbSNP:rs2066530, MIM: 602079<li>E->G at 308: 16% reduction in catalytic efficiency toward trimethylamine and 40% increase toward benzydamine and methyl p-tolyl sulfide; dbSNP:rs2266780, MIM: 602079<li>L->P at 360: in dbSNP:rs28363581, MIM: 602079<li>E->Q at 362: in dbSNP:rs2066532, MIM: 602079<li>R->L at 387: in TMAU, MIM: 602079<li>K->N at 416: 2-fold decrease in affinity for trimethylamine; 3-fold decrease in catalytic efficiency toward methimazole; 3-fold increase in catalytic efficiency toward sulindac; 30% increase in catalytic efficiency toward ethylenethiourea, MIM: 602079<li>M->I at 434: in TMAU; profoundly alters enzyme function, MIM: 602079<li>R->W at 492: in TMAU; loss of activity; affects FAD binding, MIM: 602079<li>G->R at 503, MIM: 602079</ul>			FAD binding	GO:0050660				Trimethylaminuria (TMAU) [MIM:602079]	<li>rs28363581</li><li>rs2266780</li><li>rs1736557</li><li>rs12072582</li><li>rs2266782</li><li>rs2066530</li><li>rs2066532</li><li>rs28363549</li>	2
P31629	3097	<ul><li>R->Q at 46: in dbSNP:rs17072013<li>A->V at 1041: in dbSNP:rs34875559<li>L->I at 1293: in dbSNP:rs35675714<li>L->P at 1538: in dbSNP:rs109836</ul>									<li>rs17072013</li><li>rs35675714</li><li>rs109836</li><li>rs34875559</li>	2
P31639	6524	<ul><li>N->S at 654: in GLYS1, MIM: 233100</ul>								Renal glucosuria (GLYS1) [MIM:233100]		2
P31641	6533	<ul><li>I->M at 17: in dbSNP:rs1042350<li>L->V at 18: in dbSNP:rs1042351<li>W->C at 236: in dbSNP:rs1042352</ul>									<li>rs1042351</li><li>rs1042350</li><li>rs1042352</li>	2
P31645	6532	<ul><li>G->A at 56: in dbSNP:rs6355<li>K->N at 201: in dbSNP:rs2228673<li>I->L at 425: in dbSNP:rs28914832<li>I->V at 425: polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity<li>F->L at 465: in dbSNP:rs28914833<li>L->V at 550: in dbSNP:rs28914834<li>K->N at 605: in dbSNP:rs6352</ul>	serotonin transport	GO:0006837							<li>rs28914834</li><li>rs28914832</li><li>rs28914833</li><li>rs6352</li><li>rs2228673</li><li>rs6355</li>	2
P31749	207	<ul><li>V->A at 167: in dbSNP:rs11555433</ul>									rs11555433	2
P31751	208	<ul><li>I->V at 188: in dbSNP rsrs55859611<li>R->K at 208: in dbSNP:rs35817154</ul>									<li>rs55859611</li><li>rs35817154</li>	2
P31785	3561	<ul><li>D->N at 39: in XSCID, MIM: 300400<li>C->G at 62: in XSCID, MIM: 300400<li>E->G at 68: in XSCID, MIM: 300400<li>E->K at 68: in XSCID, MIM: 300400<li>N->K at 84: in XSCID, MIM: 300400<li>Y->C at 89: in XSCID, MIM: 300400<li>Y->C at 105: in XSCID, MIM: 300400<li>E->K at 109: in dbSNP:rs17875899, MIM: 300400<li>G->D at 114: in XSCID, MIM: 300400<li>C->F at 115: in XSCID, MIM: 300400<li>C->R at 115: in XSCID; atypical, MIM: 300400<li>H->P at 123: in XSCID, MIM: 300400<li>Y->N at 125: in XSCID, MIM: 300400<li>Q->P at 144: in XSCID, MIM: 300400<li>I->N at 153: in XSCID, MIM: 300400<li>A->V at 156: in XSCID, MIM: 300400<li>L->H at 162: in XSCID, MIM: 300400<li>L->P at 172: in XSCID, MIM: 300400<li>L->Q at 172: in XSCID, MIM: 300400<li>C->R at 182: in XSCID, MIM: 300400<li>L->S at 183: in XSCID, MIM: 300400<li>R->C at 222: in XCID, MIM: 312863<li>R->W at 224: in XSCID, MIM: 300400<li>R->C at 226: in XSCID, MIM: 300400<li>R->H at 226: in XSCID, MIM: 300400<li>F->C at 227: in XSCID, MIM: 300400<li>L->P at 230: in XSCID, MIM: 300400<li>C->Y at 231: in XSCID, MIM: 300400<li>G->R at 232: in XSCID, MIM: 300400<li>W->WQHW at 237: in XSCID, MIM: 300400<li>W->C at 240: in XSCID, MIM: 300400<li>S->I at 241: in XSCID, MIM: 300400<li>M->R at 270: in XSCID, MIM: 300400<li>R->Q at 285: in XSCID, MIM: 300400<li>L->Q at 293: in XCID, MIM: 312863</ul>								<li>X-linked combined immunodeficiency (XCID) [MIM:312863]</li><li>X-linked severe combined immunodeficiency (XSCID) [MIM:300400]</li>	rs17875899	2
P31930	7384	<ul><li>D->H at 215: in dbSNP:rs17080284<li>N->S at 301</ul>									rs17080284	2
P31939	471	<ul><li>T->S at 116: in dbSNP:rs2372536<li>K->R at 426: in AICA-ribosuria; loss of AICAR transformylase activity, MIM: 608688</ul>							<li>Q8D244</li><li>Q5HUK6</li><li>Q97T99</li><li>Q8UBM8</li><li>Q87D58</li><li>Q9PNY2</li><li>Q9HUV9</li><li>P54113</li><li>Q5E257</li><li>Q5XEF2</li><li>Q89WU7</li><li>P43852</li><li>P57143</li><li>Q9F1T4</li><li>Q8YSJ2</li><li>Q9PC10</li><li>Q87KT0</li><li>Q8FR29</li><li>Q9JUQ8</li><li>Q8CT27</li><li>Q8ZAR3</li><li>Q71YQ3</li><li>P67539</li><li>Q8NS21</li><li>Q8RC55</li><li>Q6AD62</li><li>Q7MGT5</li><li>Q46480</li><li>Q9CWJ9</li><li>Q8DD06</li><li>Q9KY50</li><li>Q8DRM1</li><li>Q5HQ97</li><li>Q9ABY4</li><li>Q88DK3</li><li>Q8KA70</li><li>Q8KFK6</li><li>Q92AP3</li><li>P67545</li><li>P67544</li><li>Q8Z335</li><li>P67546</li><li>P67541</li><li>Q8NX88</li><li>P67540</li><li>P57828</li><li>Q8DWK8</li><li>P67543</li><li>P67542</li><li>P15639</li><li>P31335</li><li>Q6GI11</li><li>Q89B23</li><li>Q8CXK7</li><li>Q8P310</li><li>O67775</li><li>Q5HH11</li><li>Q7UKJ8</li><li>Q9JZM7</li><li>Q8G6B1</li><li>P12048</li><li>Q92KX6</li><li>Q6GAE0</li><li>Q9X0X6</li><li>Q8XMK2</li><li>Q9KF53</li><li>Q9RHX6</li><li>Q87VR9</li><li>Q8F3W6</li><li>P74741</li><li>Q8PD47</li><li>Q8FB68</li><li>Q8A155</li><li>Q8REV6</li><li>Q72RT5</li><li>P38009</li><li>P31939</li><li>Q9CFG0</li><li>Q97J91</li><li>Q8Y6C5</li><li>Q892X3</li><li>Q8Y232</li><li>Q8K8Y6</li><li>Q8PQ19</li><li>Q8DIN5</li><li>Q9KV80</li><li>Q88U29</li><li>Q8EJM1</li><li>P26978</li><li>Q9Z5H5</li><li>Q9RAJ5</li><li>Q8X611</li><li>Q9RW01</li><li>Q98ES7</li><li>O74928</li>	AICA-ribosuria [MIM:608688]	rs2372536	2
P31941	200315	<ul><li>T->A at 19: in dbSNP:rs17000556</ul>									rs17000556	2
P31942	3189	<ul><li>N->S at 163: in dbSNP:rs2273903<li>G->A at 284: in dbSNP:rs16925347</ul>									<li>rs2273903</li><li>rs16925347</li>	2
P31947	2810	<ul><li>M->I at 155: in dbSNP:rs11542705</ul>									rs11542705	2
P31994	2213	<ul><li>Y->F at 205: in dbSNP:rs1050499<li>I->T at 232<li>Y->D at 258</ul>									rs1050499	2
P31997	1088	<ul><li>G->V at 17: in dbSNP:rs28367882<li>A->V at 45: in dbSNP:rs35221575<li>R->K at 114: in dbSNP:rs1041997<li>L->V at 322: in dbSNP:rs45476198<li>I->M at 340: in dbSNP:rs8103051</ul>									<li>rs8103051</li><li>rs45476198</li><li>rs28367882</li><li>rs1041997</li><li>rs35221575</li>	2
P32004	3897	<ul><li>W->S at 9: in HSAS, MIM: 307000<li>H->N at 30, MIM: 307000<li>G->S at 121: in HSAS, MIM: 307000<li>I->S at 179: in HSAS, MASA and SPG1, MIM: 303350<li>R->Q at 184: in HSAS; severe, MIM: 307000<li>R->W at 184: in HSAS, MIM: 307000<li>Y->C at 194: in HSAS, MIM: 307000<li>D->Y at 202: in MASA, MIM: 303350<li>H->Q at 210: in MASA; dbSNP:rs28933683, MIM: 303350<li>I->T at 219: in HSAS, MIM: 307000<li>P->L at 240: in HSAS and partial agenesis of the corpus callosum, MIM: 304100<li>C->Y at 264: in HSAS; severe, MIM: 307000<li>G->D at 268: in MASA, MIM: 303350<li>E->K at 309: in MASA, MIM: 303350<li>W->C at 335: in HSAS, MIM: 307000<li>W->R at 335: in HSAS, MASA and HSCR, MIM: 303350<li>G->R at 370: in HSAS, MASA and SPG1, MIM: 303350<li>R->C at 386: in HSAS, MIM: 307000<li>N->I at 408: in HSAS, MIM: 307000<li>A->P at 415: in HSAS, MIM: 307000<li>V->D at 421: in HSAS, MIM: 307000<li>A->D at 426: in MASA, MIM: 303350<li>Missing  at 439-443: in HSAS, MIM: 303350<li>G->R at 452: in HSAS; severe, MIM: 307000<li>R->C at 473: in HSAS and MASA, MIM: 303350<li>L->P at 482: in MASA, MIM: 303350<li>C->Y at 497: in HSAS, MIM: 307000<li>Missing  at 526: in HSAS, MIM: 307000<li>S->P at 542: in HSAS, MIM: 307000<li>D->N at 598: in MASA, MIM: 303350<li>R->P at 632: in MASA, MIM: 303350<li>K->E at 655: in HSAS, MIM: 307000<li>S->C at 674: in MASA; associated with callosal agenesis, MIM: 303350<li>A->D at 691: in MASA; associated with callosal agenesis, MIM: 303350<li>A->T at 691: in HSAS, MIM: 307000<li>G->R at 698: in HSAS and MASA; associated with callosal agenesis, MIM: 303350<li>R->W at 739, MIM: 303350<li>M->T at 741: in HSAS, MIM: 307000<li>R->P at 751: in HSAS, MIM: 307000<li>V->M at 752: in MASA, HSCR and HSAS, MIM: 303350<li>V->F at 768: in HSAS, MIM: 307000<li>V->I at 768: in dbSNP rsrs36021462, MIM: 307000<li>D->N at 770: in MASA; associated with callosal agenesis, MIM: 303350<li>Y->C at 784: in HSAS, MIM: 307000<li>L->P at 935: in HSAS, MIM: 307000<li>Missing  at 936-948: in HSAS, MIM: 307000<li>P->L at 941: in HSAS and MASA, MIM: 303350<li>Y->C at 1070: in HSAS, MIM: 307000<li>S->L at 1194: in HSAS and MASA, MIM: 303350<li>S->L at 1224: in HSAS, MIM: 307000<li>G->E at 1239, MIM: 307000</ul>							<li>Q0VD27</li><li>P15519</li><li>Q9UHY7</li>	<li>Hirschsprung disease (HSCR) [MIM:142623]</li><li>Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]</li><li>Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]</li><li>Partial agenesis of the corpus callosum [MIM:304100]</li><li>Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]</li>	<li>rs36021462</li><li>rs28933683</li>	2
P32019	3633	<ul><li>T->M at 745: in dbSNP:rs11488569</ul>									rs11488569	2
P32119	7001	<ul><li>D->E at 153: in dbSNP rsrs34012472</ul>									rs34012472	2
P32189		<ul><li>S->N at 185<li>N->H at 232<li>N->D at 294: in GKD, MIM: 307030<li>A->T at 382, MIM: 307030<li>D->V at 446: in GKD, MIM: 307030<li>W->R at 509: in GKD, MIM: 307030</ul>								GK deficiency (GKD) [MIM:307030]		2
P32239	887	<ul><li>L->F at 37: in dbSNP:rs1805000<li>V->G at 77: in dbSNP:rs35816985<li>V->I at 125: in dbSNP:rs1805002<li>R->H at 215: in dbSNP:rs1805004<li>R->Q at 319: in dbSNP:rs1805001</ul>									<li>rs1805000</li><li>rs1805002</li><li>rs1805001</li><li>rs1805004</li><li>rs35816985</li>	2
P32241	7433	<ul><li>R->M at 341: in dbSNP:rs17855906<li>R->L at 445: in dbSNP:rs3733055</ul>									<li>rs3733055</li><li>rs17855906</li>	2
P32243	5015	<ul><li>R->G at 89: in MCOPS5, MIM: 610125<li>P->T at 133: in MCOPS5, MIM: 610125<li>P->A at 134: in MCOPS5, MIM: 610125</ul>								Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]		2
P32245	4160	<ul><li>T->A at 11: in obesity; partial activity<li>S->R at 30: in obesity<li>S->Y at 36: in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor<li>D->V at 37: in obesity; dbSNP:rs13447325<li>V->M at 50: in obesity<li>S->C at 58: in obesity<li>N->S at 62: in obesity; shows a partial cAMP response to alpha-MSH<li>P->L at 78: in obesity; dbSNP:rs13447326<li>Missing  at 88-92: in obesity; the mutant receptor is expressed well on the cell surface but is completely devoid of ligand binding and cAMP generation in response to agonist stimulation<li>N->D at 97: in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression<li>I->S at 102: in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor<li>I->T at 102: in obesity<li>V->I at 103: in dbSNP:rs2229616<li>L->P at 106: in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression<li>T->M at 112: in obesity; could be a polymorphism; dbSNP:rs13447329<li>I->K at 125: in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression<li>S->L at 127: in obesity; signaling properties in response to alpha-MSH, beta-MSH and gamma-1-MSH are impaired; dbSNP:rs13447331<li>R->Q at 165: in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332<li>R->W at 165: in obesity: in dbSNP rsrs13447332<li>I->V at 170: in obesity<li>A->T at 175: in obesity; shows a partial cAMP response to alpha-MSH<li>G->D at 181: in obesity; does not bind alpha-MSH; dbSNP:rs13447333<li>A->V at 219: in obesity; shows significantly impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor<li>I->T at 226<li>I->L at 251: in dbSNP:rs52820871<li>G->S at 252: in obesity; dbSNP:rs13447336<li>V->I at 253: in obesity; shows a partial cAMP response to alpha-MSH<li>C->R at 271: in obesity; completely unable to generate cAMP in response to ligand; shows impaired cell surface expression<li>C->Y at 271: in obesity; no activity<li>N->S at 274: in obesity<li>I->S at 316: in obesity; shows reduced cAMP response to alpha-MSH; retains normal affinity for the antagonist AGRP<li>I->T at 317: in obesity; dbSNP:rs13447337<li>L->F at 325: in obesity; does not bind alpha-MSH</ul>			binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>P68000</li><li>P68001</li><li>Q9YGK2</li><li>Q9YGK4</li><li>P56568</li><li>P10000</li><li>P22923</li><li>P01189</li><li>P01197</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>P01206</li><li>P61281</li><li>P41589</li><li>P01201</li><li>P01202</li><li>Q91082</li><li>P61280</li><li>Q9TU18</li><li>P56413</li><li>P06298</li><li>P06297</li><li>P11280</li><li>Q9YGK5</li><li>P06299</li><li>P11885</li><li>O00253</li><li>P21252</li>		<li>rs13447329</li><li>rs2229616</li><li>rs13447326</li><li>rs13447325</li><li>rs13447337</li><li>rs13447336</li><li>rs13447332</li><li>rs52820871</li><li>rs13447333</li><li>rs13447331</li>	2
P32247	680	<ul><li>T->P at 53: in dbSNP:rs5232<li>L->Q at 162: in dbSNP:rs5234</ul>									<li>rs5232</li><li>rs5234</li>	2
P32248	1236	<ul><li>M->V at 7: in dbSNP:rs45521932</ul>									rs45521932	2
P32249	1880	<ul><li>A->V at 338: in an acute myeloid leukemia sample; somatic mutation</ul>										2
P32297	1136	<ul><li>L->LL at 21</ul>										2
P32298	2868	<ul><li>R->L at 65: in dbSNP:rs2960306<li>D->H at 95: in dbSNP:rs13305979<li>A->T at 116: in dbSNP:rs34857805<li>A->V at 142: in dbSNP:rs1024323<li>T->R at 183: in dbSNP:rs45538934<li>V->I at 247: in dbSNP:rs35605687<li>H->Q at 383: in dbSNP rsrs55852353<li>L->P at 425: in dbSNP rsrs34022679<li>A->V at 440: in dbSNP:rs1801058<li>V->I at 473: in dbSNP rsrs35024854<li>V->A at 486: in dbSNP:rs1801058<li>A->T at 495: in dbSNP rsrs35463176</ul>									<li>rs35463176</li><li>rs35605687</li><li>rs2960306</li><li>rs45538934</li><li>rs35024854</li><li>rs1024323</li><li>rs34857805</li><li>rs13305979</li><li>rs1801058</li><li>rs34022679</li><li>rs55852353</li>	2
P32302	643	<ul><li>E->K at 34: in a breast cancer sample; somatic mutation<li>G->S at 344: in dbSNP:rs665648</ul>									rs665648	2
P32320	978	<ul><li>K->Q at 27: in dbSNP:rs2072671</ul>									rs2072671	2
P32418	6546	<ul><li>E->V at 692: in dbSNP:rs5557</ul>									rs5557	2
P32455	2633	<ul><li>I->V at 78: in dbSNP:rs1048401<li>E->D at 166: in dbSNP:rs17130717<li>S->T at 349: in dbSNP:rs1048425<li>G->A at 409: in dbSNP:rs1048443</ul>									<li>rs1048401</li><li>rs1048443</li><li>rs1048425</li><li>rs17130717</li>	2
P32519	1997	<ul><li>N->S at 58: in dbSNP:rs7799<li>T->S at 343: in dbSNP:rs1056820<li>T->I at 403: in dbSNP:rs7323148</ul>									<li>rs1056820</li><li>rs7799</li><li>rs7323148</li>	2
P32745	6753	<ul><li>A->V at 33: in dbSNP:rs4988466<li>P->L at 37: in dbSNP:rs34943557<li>S->F at 251: in dbSNP:rs6413537<li>R->C at 336: in dbSNP:rs4988469<li>S->T at 411: in dbSNP:rs229568<li>R->H at 414: in dbSNP:rs4988471</ul>									<li>rs34943557</li><li>rs4988471</li><li>rs4988466</li><li>rs6413537</li><li>rs4988469</li><li>rs229568</li>	2
P32754	3242	<ul><li>A->T at 33: in two patients with hawkinsinuria; dbSNP:rs1154510<li>R->Q at 113: in dbSNP:rs11833399<li>Y->C at 160: in TYRO3: in dbSNP rsrs28934278, MIM: 276710<li>I->F at 267, MIM: 276710<li>A->V at 268: in TYRO3, MIM: 276710<li>I->M at 335: in TYRO3, MIM: 276710<li>V->L at 340: in dbSNP:rs36023382, MIM: 276710</ul>							Q06418	Tyrosinemia type 3 (TYRO3) [MIM:276710]	<li>rs28934278</li><li>rs36023382</li><li>rs1154510</li><li>rs11833399</li>	2
P32780	2965	<ul><li>R->W at 234: in dbSNP:rs4150603<li>S->F at 285: in dbSNP:rs4150636<li>L->V at 517: in dbSNP:rs4150665</ul>									<li>rs4150603</li><li>rs4150665</li><li>rs4150636</li>	2
P32856	2054	<ul><li>S->T at 42: in dbSNP:rs17564</ul>									rs17564	2
P32881	3445	<ul><li>E->K at 137: in dbSNP:rs3739630</ul>									rs3739630	2
P32927	1439	<ul><li>E->Q at 249: in dbSNP:rs16845<li>P->T at 603: in PAP; dbSNP:rs1801122, MIM: 265120<li>G->V at 647: in dbSNP:rs1801115, MIM: 265120<li>V->M at 652: in dbSNP:rs1801114, MIM: 265120<li>P->S at 696: in dbSNP:rs16997517, MIM: 265120</ul>							<li>P16790</li><li>O32449</li><li>Q9NVV4</li><li>Q97A76</li><li>Q9JUV1</li><li>O74326</li><li>P52440</li><li>Q9PD69</li><li>Q06141</li><li>Q09131</li><li>Q9ZWQ8</li><li>Q87DF8</li><li>Q51D88</li><li>P75092</li><li>P96084</li><li>Q9D0D3</li><li>P51004</li><li>P28958</li><li>P51005</li><li>Q97UA2</li><li>P51006</li><li>P52439</li><li>O96690</li><li>O43150</li><li>P51003</li><li>P42786</li><li>P0ABF1</li><li>P0ABF2</li><li>P0ABF3</li><li>P84399</li><li>Q3UHX2</li><li>P10226</li><li>O83041</li><li>Q10295</li><li>Q9UT49</li><li>P29468</li><li>Q61183</li><li>P25500</li><li>O74518</li><li>P27417</li><li>Q9JZR6</li><li>Q62785</li><li>P93732</li><li>Q8Z9C3</li><li>Q8ZRQ8</li><li>Q7SIG6</li><li>P52279</li><li>P80366</li><li>Q38924</li><li>P52278</li><li>Q9S2L4</li><li>P09274</li><li>Q13442</li><li>P46544</li><li>P46541</li><li>P46542</li><li>Q9UTN3</li><li>P46547</li><li>P36322</li><li>P47266</li><li>P44439</li><li>P36702</li>	Congenital pulmonary alveolar proteinosis (PAP) [MIM:265120]	<li>rs1801115</li><li>rs16845</li><li>rs1801114</li><li>rs1801122</li><li>rs16997517</li>	2
P32929	1491	<ul><li>T->I at 67: in cystathionuria; dbSNP:rs28941785<li>Q->E at 240: in cystathionuria: in dbSNP rsrs28941786<li>S->I at 403: in dbSNP:rs1021737</ul>									<li>rs1021737</li><li>rs28941786</li><li>rs28941785</li>	2
P32930	654231	<ul><li>Q->R at 20: in dbSNP:rs13312633</ul>									rs13312633	2
P32942	3385	<ul><li>I->V at 63: in dbSNP:rs17697947<li>D->G at 143: in dbSNP:rs2304237<li>S->T at 525: in dbSNP:rs2230399</ul>									<li>rs2304237</li><li>rs17697947</li><li>rs2230399</li>	2
P33032	4161	<ul><li>F->L at 209: in dbSNP:rs2236700</ul>									rs2236700	2
P33076	4261	<ul><li>L->V at 45: in dbSNP:rs2229317<li>K->IE at 120: in BLS2<li>G->R at 174: in dbSNP:rs8046121<li>L->P at 469: in BLS2; mild immunodeficiency; has residual MHC class II trans activation activity, MIM: 209920<li>G->A at 500: in dbSNP:rs4774, MIM: 209920<li>A->G at 658: in dbSNP:rs2229319, MIM: 209920<li>R->Q at 900: in dbSNP:rs7197779, MIM: 209920<li>Missing  at 940-963: in BLS2, MIM: 209920<li>F->S at 962: in BLS2, MIM: 209920<li>Missing  at 964-991: in BLS2, MIM: 209920<li>Missing  at 1027: in BLS2, MIM: 209920</ul>								Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	<li>rs2229317</li><li>rs2229319</li><li>rs4774</li><li>rs7197779</li><li>rs8046121</li>	2
P33151	1003	<ul><li>I->T at 503: in dbSNP:rs16956504<li>T->I at 517: in dbSNP:rs1049970</ul>									<li>rs1049970</li><li>rs16956504</li>	2
P33241	4046	<ul><li>A->T at 100: in dbSNP:rs621679<li>Q->K at 229: in dbSNP:rs1803928</ul>									<li>rs621679</li><li>rs1803928</li>	2
P33260	1562	<ul><li>T->M at 385: in dbSNP:rs2281891</ul>									rs2281891	2
P33261	1557	<ul><li>L->P at 17: in allele CYP2C19*14: in dbSNP rsrs55752064<li>I->L at 19: in allele CYP2C19*15: in dbSNP rsrs17882687<li>S->G at 51: in allele CYP2C19*19<li>M->T at 74: in dbSNP rsrs28399505<li>E->D at 92: in dbSNP rsrs17878459<li>W->R at 120: in allele CYP2C19*8; loss of activity: in dbSNP rsrs41291556<li>E->A at 122: in dbSNP rsrs17885179<li>R->Q at 132: in allele CYP2C19*6; loss of activity<li>R->H at 144: in allele CYP2C19*9: in dbSNP rsrs17884712<li>R->H at 150: in allele CYP2C19*11: in dbSNP rsrs58973490<li>A->P at 161<li>F->L at 168: in dbSNP rsrs28399510<li>P->L at 227: in allele CYP2C19*10; dbSNP:rs6413438<li>R->H at 329: in allele CYP2C19*18<li>V->I at 331: in allele CYP2C19*1A, allele CYP2C19*5A, allele CYP2C19*8 and allele CYP2C19*16: in dbSNP rsrs3758581<li>R->C at 410: in allele CYP2C19*13: in dbSNP rsrs17879685<li>R->W at 433: in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity: in dbSNP rsrs56337013<li>R->C at 442: in allele CYP2C19*16; lowered catalytic activity</ul>			catalytic activity	GO:0003824			P33261		<li>rs55752064</li><li>rs17884712</li><li>rs3758581</li><li>rs17878459</li><li>rs17879685</li><li>rs6413438</li><li>rs17882687</li><li>rs28399505</li><li>rs17885179</li><li>rs58973490</li><li>rs41291556</li><li>rs28399510</li><li>rs56337013</li>	2
P33316	1854	<ul><li>P->S at 100: in dbSNP rsrs28381104</ul>									rs28381104	2
P33402	2977	<ul><li>E->V at 681: in a colorectal cancer sample; somatic mutation<li>N->T at 685: in a colorectal cancer sample; somatic mutation</ul>										2
P33527	4363	<ul><li>C->S at 43: in dbSNP rsrs41395947<li>T->I at 73: in dbSNP rsrs41494447<li>T->M at 117<li>R->S at 433: in dbSNP rsrs60782127<li>R->Q at 633<li>G->V at 671: no effect on leukotriene C4 and estradiol glucuronide transport: in dbSNP rsrs45511401<li>R->Q at 723: in dbSNP:rs4148356<li>R->Q at 1058: in dbSNP rsrs41410450<li>S->L at 1512</ul>	glucuronide transport	GO:0015779							<li>rs41410450</li><li>rs60782127</li><li>rs41395947</li><li>rs4148356</li><li>rs45511401</li><li>rs41494447</li>	2
P33763	6276	<ul><li>D->G at 54</ul>										2
P33765	140	<ul><li>A->T at 105: in a colorectal cancer sample; somatic mutation<li>I->L at 248: in dbSNP:rs35511654<li>M->K at 266: in dbSNP:rs2800889</ul>									<li>rs35511654</li><li>rs2800889</li>	2
P33897	215	<ul><li>N->T at 13: very rare polymorphism; does not affect ALDP function<li>C->W at 88: in X-ALD, MIM: 300100<li>E->K at 90: in X-ALD, MIM: 300100<li>S->L at 98: in X-ALD; CALD type, MIM: 300100<li>A->D at 99: in X-ALD; AMN-type, MIM: 300100<li>S->R at 103: in X-ALD, MIM: 300100<li>R->C at 104: in X-ALD, MIM: 300100<li>R->H at 104: in X-ALD; ADO-type, MIM: 300100<li>T->I at 105: in X-ALD; ADO-type, MIM: 300100<li>T->P at 105: in X-ALD, MIM: 300100<li>L->P at 107: in X-ALD; ALD/AMN/ADO-types and asymptomatic, MIM: 300100<li>S->L at 108: in X-ALD, MIM: 300100<li>S->W at 108: in X-ALD; CALD and AMN-types, MIM: 300100<li>R->C at 113: in X-ALD, MIM: 300100<li>R->P at 113: in X-ALD, MIM: 300100<li>G->R at 116: in X-ALD; CALD-type, MIM: 300100<li>Missing  at 138-141: in X-ALD; ALD-type, MIM: 300100<li>A->T at 141: in X-ALD, MIM: 300100<li>P->S at 143: in X-ALD, MIM: 300100<li>N->S at 148: in X-ALD; ADO-type, MIM: 300100<li>S->N at 149: in X-ALD, MIM: 300100<li>R->C at 152: in X-ALD; ADO-type, MIM: 300100<li>R->L at 152: in X-ALD, MIM: 300100<li>R->P at 152: in X-ALD, MIM: 300100<li>R->S at 152: in X-ALD, MIM: 300100<li>S->P at 161: in X-ALD, MIM: 300100<li>R->H at 163: in X-ALD, MIM: 300100<li>R->P at 163: in X-ALD, MIM: 300100<li>Y->C at 174: in X-ALD, MIM: 300100<li>Y->D at 174: in X-ALD; ALD-type, MIM: 300100<li>Y->S at 174: in X-ALD; CALD-type, MIM: 300100<li>Q->E at 178: in X-ALD; AMN-type, MIM: 300100<li>Y->C at 181: in X-ALD; ALMD-type, MIM: 300100<li>R->P at 182: in X-ALD, MIM: 300100<li>R->W at 189: in X-ALD, MIM: 300100<li>L->P at 190: in X-ALD, MIM: 300100<li>D->H at 194: in X-ALD, MIM: 300100<li>T->K at 198: in X-ALD, MIM: 300100<li>D->N at 200: in X-ALD, MIM: 300100<li>D->V at 200: in X-ALD; CALD-type, MIM: 300100<li>S->SAAS at 207: in X-ALD, MIM: 300100<li>L->P at 211: in X-ALD, MIM: 300100<li>S->C at 213: in X-ALD, MIM: 300100<li>N->D at 214: in X-ALD, MIM: 300100<li>K->E at 217: in X-ALD, MIM: 300100<li>P->T at 218: in X-ALD, MIM: 300100<li>L->P at 220: in X-ALD, MIM: 300100<li>D->G at 221: in X-ALD; CALD and AMN-types, MIM: 300100<li>V->E at 224: in X-ALD, MIM: 300100<li>L->P at 229: in X-ALD, MIM: 300100<li>T->M at 254: in X-ALD; AMN-type, MIM: 300100<li>T->P at 254: in X-ALD; AMN-type, MIM: 300100<li>P->L at 263: in X-ALD; CALD, AMN and AD-types, MIM: 300100<li>G->R at 266: in X-ALD, MIM: 300100<li>E->K at 271: in X-ALD, MIM: 300100<li>R->W at 274: in X-ALD, MIM: 300100<li>K->E at 276: in X-ALD; CALD-type, MIM: 300100<li>G->GN at 277: in X-ALD; ADO-type, MIM: 300100<li>G->R at 277: in X-ALD; AMN-type, MIM: 300100<li>G->W at 277: in X-ALD, MIM: 300100<li>R->C at 280: in X-ALD, MIM: 300100<li>R->P at 285: in X-ALD, MIM: 300100<li>E->D at 291: in X-ALD; ACALD and CALD-types, MIM: 300100<li>E->K at 291: in X-ALD, MIM: 300100<li>Missing  at 291: in X-ALD; ALD-type, MIM: 300100<li>A->T at 294: in X-ALD; AMN-type, MIM: 300100<li>Y->C at 296: in X-ALD, MIM: 300100<li>G->D at 298: in X-ALD, MIM: 300100<li>E->EVGQ at 300: in X-ALD, MIM: 300100<li>E->K at 302: in X-ALD, MIM: 300100<li>L->P at 322: in X-ALD, MIM: 300100<li>K->M at 336: in X-ALD, MIM: 300100<li>W->R at 339: in X-ALD, MIM: 300100<li>S->P at 342: in X-ALD; AMN-type, MIM: 300100<li>G->D at 343: in X-ALD, MIM: 300100<li>G->S at 343: in X-ALD, MIM: 300100<li>R->G at 389: in X-ALD; AMN-type, MIM: 300100<li>R->H at 389: in X-ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70, MIM: 300100<li>R->Q at 401: in X-ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70, MIM: 300100<li>R->W at 401: in X-ALD, MIM: 300100<li>R->W at 418: in X-ALD; AMN-type, MIM: 300100<li>Missing  at 427: in X-ALD, MIM: 300100<li>P->R at 484: in X-ALD; CALD, AMN and ADO-types; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70, MIM: 300100<li>L->P at 503: in X-ALD, MIM: 300100<li>G->V at 507: in X-ALD; CALD-types, MIM: 300100<li>G->S at 512: in X-ALD; CALD and AS-types; reduced ATPase activity, MIM: 300100<li>S->R at 514: in X-ALD, MIM: 300100<li>S->F at 515: in X-ALD, MIM: 300100<li>R->Q at 518: in X-ALD; CALD-type, MIM: 300100<li>R->W at 518: in X-ALD; CALD-type, MIM: 300100<li>G->W at 522: in X-ALD; AD-type, MIM: 300100<li>Missing  at 528: in X-ALD; CALD-type, MIM: 300100<li>G->S at 529: in X-ALD, MIM: 300100<li>P->L at 534: in X-ALD; CALD-type, MIM: 300100<li>F->S at 540: in X-ALD, MIM: 300100<li>P->L at 543: in X-ALD, MIM: 300100<li>Q->R at 544: in X-ALD, MIM: 300100<li>S->P at 552: in X-ALD, MIM: 300100<li>R->H at 554: in X-ALD, MIM: 300100<li>Q->R at 556: in X-ALD; ACALD type, MIM: 300100<li>P->L at 560: in X-ALD; CALD-type, MIM: 300100<li>P->R at 560: in X-ALD; AMN and ALMD-types, MIM: 300100<li>P->S at 560: in X-ALD, MIM: 300100<li>M->K at 566: in X-ALD, MIM: 300100<li>R->P at 591: in X-ALD, MIM: 300100<li>R->Q at 591: in X-ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70, MIM: 300100<li>R->W at 591: in X-ALD, MIM: 300100<li>S->L at 606: in X-ALD; decreased ATP-binding affinity, MIM: 300100<li>S->P at 606: in X-ALD; CALD, AMN and ALMD-types, MIM: 300100<li>G->D at 608: in X-ALD; CALD-type, MIM: 300100<li>E->G at 609: in X-ALD, MIM: 300100<li>E->K at 609: in X-ALD; AMN-type, MIM: 300100<li>A->V at 616: in X-ALD, MIM: 300100<li>R->C at 617: in X-ALD; ALD-type and asymptomatic, MIM: 300100<li>R->G at 617: in X-ALD; ADO and AMN-types with cerebral involvement, MIM: 300100<li>R->H at 617: in X-ALD, MIM: 300100<li>A->D at 626: in X-ALD, MIM: 300100<li>A->T at 626: in X-ALD; CALD and AMN-types, MIM: 300100<li>D->H at 629: in X-ALD, MIM: 300100<li>E->G at 630: in X-ALD, MIM: 300100<li>C->Y at 631: in X-ALD, MIM: 300100<li>T->I at 632: in X-ALD, MIM: 300100<li>S->I at 633: in X-ALD; asymptomatic, MIM: 300100<li>S->R at 633: in X-ALD, MIM: 300100<li>V->M at 635: in X-ALD, MIM: 300100<li>S->I at 636: in X-ALD, MIM: 300100<li>D->Y at 638: in X-ALD, MIM: 300100<li>A->P at 646: in X-ALD, MIM: 300100<li>L->P at 654: in X-ALD, MIM: 300100<li>Missing  at 657: in X-ALD; CALD-type, MIM: 300100<li>R->P at 660: in X-ALD; CALD-type, MIM: 300100<li>R->W at 660: in X-ALD; CALD, ALMD and AS-types, MIM: 300100<li>H->D at 667: in X-ALD, MIM: 300100<li>T->I at 668: in X-ALD, MIM: 300100<li>W->R at 679: in X-ALD; AMN-type, MIM: 300100<li>T->M at 693: in X-ALD, MIM: 300100</ul>			<li>ATP-binding</li><li>ATPase activity</li>	<li>GO:0005524</li><li>GO:0016887</li>			<li>P33897</li><li>Q9BXJ7</li><li>P48410</li><li>Q6UKI2</li><li>P28288</li><li>P16970</li><li>P55096</li><li>Q9UBJ2</li><li>P07752</li><li>Q40677</li>	Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]		2
P33908	4121	<ul><li>R->G at 651: in dbSNP:rs35544784</ul>									rs35544784	2
P33981	7272	<ul><li>A->V at 97: in dbSNP:rs2230513<li>D->N at 758: in dbSNP:rs2230512</ul>									<li>rs2230512</li><li>rs2230513</li>	2
P33991	4173	<ul><li>E->G at 460: in dbSNP:rs17287663<li>L->M at 650: in dbSNP:rs762679</ul>									<li>rs17287663</li><li>rs762679</li>	2
P33992	4174	<ul><li>S->T at 136: in dbSNP:rs2307334<li>T->S at 180: in dbSNP:rs2307340<li>V->I at 258: in dbSNP:rs2230933</ul>									<li>rs2307340</li><li>rs2230933</li><li>rs2307334</li>	2
P33993	4176	<ul><li>R->Q at 114: in dbSNP:rs2307348<li>N->S at 144: in dbSNP:rs2070215<li>G->S at 473: in dbSNP:rs2307347</ul>									<li>rs2070215</li><li>rs2307348</li><li>rs2307347</li>	2
P34059	2588	<ul><li>L->M at 15: in MPS4A, MIM: 253000<li>Missing  at 17-18: in MPS4A, MIM: 253000<li>G->R at 23: in MPS4A, MIM: 253000<li>L->P at 36: in MPS4A, MIM: 253000<li>M->L at 41: in MPS4A, MIM: 253000<li>G->E at 42: in MPS4A, MIM: 253000<li>G->R at 47: in MPS4A; severe form, MIM: 253000<li>Missing  at 52-55: in MPS4A, MIM: 253000<li>S->F at 53: in MPS4A, MIM: 253000<li>D->N at 60: in MPS4A; mild form, MIM: 253000<li>R->W at 61: in MPS4A, MIM: 253000<li>L->M at 67: associated with S-409 in a MPS4A patient; dbSNP:rs11862754, MIM: 253000<li>F->V at 69: in MPS4A, MIM: 253000<li>NFYS->T at 71-74: in MPS4A, MIM: 253000<li>P->R at 77: in MPS4A; severe form, MIM: 253000<li>C->Y at 79: in MPS4A, MIM: 253000<li>S->L at 80: in MPS4A; intermediate form, MIM: 253000<li>R->W at 90: in MPS4A; severe form, MIM: 253000<li>R->C at 94: in MPS4A; mild/intermediate form, MIM: 253000<li>R->G at 94: in MPS4A; mild/intermediate form, MIM: 253000<li>R->L at 94: in MPS4A, MIM: 253000<li>G->C at 96: in MPS4A, MIM: 253000<li>G->V at 96: in MPS4A; severe form, MIM: 253000<li>F->V at 97: in MPS4A; mild form, MIM: 253000<li>A->T at 107: in MPS4A, MIM: 253000<li>Q->R at 111: in MPS4A; intermediate form, MIM: 253000<li>I->F at 113: in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry, MIM: 253000<li>G->S at 116: in MPS4A, MIM: 253000<li>P->L at 125: in MPS4A; severe form, MIM: 253000<li>S->R at 135: in MPS4A; severe form, MIM: 253000<li>V->A at 138: in MPS4A; mild/severe/intermediate form, MIM: 253000<li>G->S at 139: in MPS4A; severe form, MIM: 253000<li>W->C at 141: in MPS4A, MIM: 253000<li>W->R at 141: in MPS4A; severe form, MIM: 253000<li>H->Y at 150: in MPS4A, MIM: 253000<li>P->L at 151: in MPS4A; severe form, MIM: 253000<li>P->S at 151: in MPS4A; severe form, MIM: 253000<li>G->E at 155: in MPS4A, MIM: 253000<li>G->R at 155: in MPS4A; severe form, MIM: 253000<li>F->C at 156: in MPS4A; severe form, MIM: 253000<li>F->S at 156: in MPS4A; mild form, MIM: 253000<li>S->F at 162: in MPS4A, MIM: 253000<li>N->T at 164: in MPS4A, MIM: 253000<li>H->Q at 166: in MPS4A; severe form, MIM: 253000<li>F->V at 167: in MPS4A, MIM: 253000<li>G->R at 168: in MPS4A, MIM: 253000<li>D->A at 171: in MPS4A, MIM: 253000<li>I->V at 178, MIM: 253000<li>P->H at 179: in MPS4A; severe form, MIM: 253000<li>P->L at 179: in MPS4A; severe form, MIM: 253000<li>P->S at 179: in MPS4A, MIM: 253000<li>E->G at 185: in MPS4A; severe form, MIM: 253000<li>T->M at 200: in dbSNP:rs7187889, MIM: 253000<li>A->V at 203: in MPS4A, MIM: 253000<li>N->K at 204: in MPS4A; mild form, MIM: 253000<li>W->G at 230: in MPS4A; severe form, MIM: 253000<li>A->G at 231: in dbSNP:rs34745339, MIM: 253000<li>D->N at 233: in MPS4A, MIM: 253000<li>V->F at 239: in MPS4A, MIM: 253000<li>G->D at 247: in MPS4A, MIM: 253000<li>R->W at 253: in MPS4A, MIM: 253000<li>A->T at 257: in MPS4A; severe form, MIM: 253000<li>R->Q at 259: in MPS4A; mild form, MIM: 253000<li>E->D at 260: in MPS4A, MIM: 253000<li>Missing  at 279-287: in MPS4A; mild form, MIM: 253000<li>F->V at 284: in MPS4A; severe form, MIM: 253000<li>Missing  at 285: in MPS4A, MIM: 253000<li>S->L at 287: in MPS4A; severe form, MIM: 253000<li>G->S at 290: in MPS4A; severe form, MIM: 253000<li>A->D at 291: in MPS4A; mild form, MIM: 253000<li>A->T at 291: in MPS4A; severe form, MIM: 253000<li>S->F at 295: in MPS4A; mild form, MIM: 253000<li>G->C at 301: in MPS4A; severe form, MIM: 253000<li>L->P at 307: in MPS4A, MIM: 253000<li>G->R at 309: in MPS4A; severe form, MIM: 253000<li>K->N at 310: in MPS4A, MIM: 253000<li>T->S at 312: in MPS4A; mild/intermediate/severe form, MIM: 253000<li>M->R at 318: in MPS4A; severe form, MIM: 253000<li>W->C at 325: in MPS4A, MIM: 253000<li>Missing  at 325: in MPS4A, MIM: 253000<li>G->D at 340: in MPS4A, MIM: 253000<li>S->R at 341: in MPS4A, MIM: 253000<li>M->R at 343: in MPS4A; severe form, MIM: 253000<li>D->E at 344: in MPS4A, MIM: 253000<li>D->N at 344: in MPS4A; severe form, MIM: 253000<li>L->P at 345: in MPS4A, MIM: 253000<li>F->L at 346: in MPS4A; severe form, MIM: 253000<li>A->V at 351: in MPS4A; severe form, MIM: 253000<li>L->P at 352: in MPS4A, MIM: 253000<li>P->L at 357: in MPS4A, MIM: 253000<li>R->G at 361: in MPS4A, MIM: 253000<li>L->P at 369: in MPS4A, MIM: 253000<li>R->Q at 376: in MPS4A; severe form, MIM: 253000<li>R->S at 380: in MPS4A, MIM: 253000<li>R->T at 380: in MPS4A, MIM: 253000<li>R->C at 386: in MPS4A; severe form, MIM: 253000<li>R->H at 386: in MPS4A, MIM: 253000<li>D->N at 388: in MPS4A, MIM: 253000<li>M->V at 391: in MPS4A; severe form, MIM: 253000<li>A->V at 392: in MPS4A, MIM: 253000<li>A->S at 393: in dbSNP:rs2303269, MIM: 253000<li>L->P at 395: in MPS4A, MIM: 253000<li>L->V at 395: in MPS4A; severe form, MIM: 253000<li>H->D at 398: in MPS4A, MIM: 253000<li>H->Y at 401: in MPS4A, MIM: 253000<li>Missing  at 403-404: in MPS4A, MIM: 253000<li>N->H at 407: in MPS4A, MIM: 253000<li>W->S at 409: in MPS4A; associated with M-67 in a patient, MIM: 253000<li>E->V at 450: in MPS4A; severe form, MIM: 253000<li>F->I at 452: in MPS4A, MIM: 253000<li>A->V at 459, MIM: 253000<li>S->P at 470: in MPS4A, MIM: 253000<li>P->S at 484: in MPS4A, MIM: 253000<li>N->S at 487: in MPS4A, MIM: 253000<li>V->M at 488, MIM: 253000<li>M->V at 494: in MPS4A; severe form, MIM: 253000<li>P->T at 510: in a colorectal cancer sample; somatic mutation, MIM: 253000</ul>								Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	<li>rs34745339</li><li>rs2303269</li><li>rs7187889</li><li>rs11862754</li>	2
P34096	6038	<ul><li>T->S at 16: in dbSNP:rs3748338</ul>									rs3748338	2
P34741	6383	<ul><li>A->T at 59: in dbSNP:rs3816208<li>S->T at 71: in dbSNP:rs1042381</ul>									<li>rs1042381</li><li>rs3816208</li>	2
P34810	968	<ul><li>Q->K at 254: in dbSNP:rs25679<li>I->T at 329: in dbSNP:rs35452170<li>A->T at 340: in dbSNP:rs17607<li>A->T at 350: in dbSNP:rs9901675</ul>									<li>rs35452170</li><li>rs17607</li><li>rs25679</li><li>rs9901675</li>	2
P34820	656	<ul><li>H->R at 293: in dbSNP:rs6525</ul>									rs6525	2
P34896	6470	<ul><li>L->F at 474: in dbSNP:rs1979277</ul>									rs1979277	2
P34913	2053	<ul><li>K->R at 55: in dbSNP:rs41507953<li>R->C at 103: in dbSNP:rs17057255<li>R->Q at 287: in dbSNP:rs751141<li>R->RR at 403</ul>									<li>rs751141</li><li>rs41507953</li><li>rs17057255</li>	2
P34925	6259	<ul><li>N->S at 96<li>R->C at 224<li>V->I at 240: in an ovarian mucinous carcinoma sample; somatic mutation</ul>										2
P34931	3305	<ul><li>A->P at 8: in dbSNP:rs9469057<li>A->T at 268: in dbSNP rsrs34620296<li>D->G at 294: in dbSNP rsrs34360259<li>T->M at 479: in dbSNP:rs482145<li>T->M at 493: in dbSNP:rs2227956<li>E->A at 558: in dbSNP:rs2227955<li>E->K at 602: in dbSNP:rs2075800</ul>									<li>rs34360259</li><li>rs2075800</li><li>rs482145</li><li>rs9469057</li><li>rs2227955</li><li>rs2227956</li><li>rs34620296</li>	2
P34947	2869	<ul><li>Q->L at 41: in dbSNP:rs17098707<li>A->V at 119: in dbSNP rsrs55980792<li>G->S at 122: in dbSNP rsrs55902633<li>T->M at 129: in dbSNP:rs34679178<li>L->I at 141: in dbSNP rsrs56254855<li>D->E at 163: in a lung neuroendocrine carcinoma sample; somatic mutation<li>R->H at 304: in dbSNP rsrs2230349</ul>									<li>rs55980792</li><li>rs55902633</li><li>rs56254855</li><li>rs34679178</li><li>rs2230349</li><li>rs17098707</li>	2
P34949	4351	<ul><li>M->T at 51: in CDG1B, MIM: 602579<li>S->L at 102: in CDG1B, MIM: 602579<li>Y->C at 129: in CDG1B, MIM: 602579<li>D->N at 131: in CDG1B, MIM: 602579<li>M->T at 138: in CDG1B, MIM: 602579<li>I->T at 140: in CDG1B, MIM: 602579<li>R->Q at 152: in CDG1B, MIM: 602579<li>R->Q at 219: in CDG1B, MIM: 602579<li>G->S at 250: in CDG1B, MIM: 602579<li>Y->C at 255: in CDG1B, MIM: 602579<li>R->H at 295: in CDG1B; dbSNP:rs28928906, MIM: 602579<li>I->T at 398: in CDG1B, MIM: 602579<li>R->H at 418: in CDG1B, MIM: 602579</ul>								Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	rs28928906	2
P34969	3363	<ul><li>T->K at 92<li>P->L at 279<li>P->Q at 448: in dbSNP:rs33954285</ul>									rs33954285	2
P34972	1269	<ul><li>Q->R at 63: associated with depresssion in Japanese population; dbSNP:rs2501432<li>H->Y at 316: in dbSNP:rs2229579</ul>									<li>rs2229579</li><li>rs2501432</li>	2
P34981	7201	<ul><li>N->K at 10: in dbSNP:rs5774<li>I->M at 168: in dbSNP:rs13306060</ul>									<li>rs5774</li><li>rs13306060</li>	2
P34982		<ul><li>R->Q at 25: in dbSNP:rs769423</ul>									rs769423	2
P34995	5731	<ul><li>A->T at 71: in dbSNP:rs1057362<li>T->M at 223: in dbSNP:rs28364042<li>H->R at 256: in dbSNP:rs7249305</ul>									<li>rs28364042</li><li>rs1057362</li><li>rs7249305</li>	2
P35030		<ul><li>T->A at 188: in dbSNP:rs855581<li>Y->C at 232: in dbSNP:rs1048379</ul>									<li>rs855581</li><li>rs1048379</li>	2
P35052	2817	<ul><li>A->D at 337: in a breast cancer sample; somatic mutation<li>G->S at 500: in dbSNP:rs2228331</ul>									rs2228331	2
P35070	685	<ul><li>C->G at 7: in dbSNP:rs28549760<li>L->M at 124: in dbSNP:rs11938093</ul>									<li>rs11938093</li><li>rs28549760</li>	2
P35125	9098	<ul><li>W->R at 475: in dbSNP:rs8073787<li>R->Q at 912: in dbSNP:rs9899177<li>I->V at 1330: in dbSNP:rs1053611</ul>									<li>rs8073787</li><li>rs9899177</li><li>rs1053611</li>	2
P35212	2701	<ul><li>P->S at 71<li>A->V at 128<li>V->I at 130: in dbSNP rsrs41266431<li>P->S at 319: in allele CX37*2; dbSNP:rs1764391</ul>									<li>rs41266431</li><li>rs1764391</li>	2
P35221	1495	<ul><li>A->V at 179: in dbSNP rsrs28363394<li>P->S at 219: in dbSNP:rs28363406</ul>									<li>rs28363406</li><li>rs28363394</li>	2
P35222	1499	<ul><li>S->R at 23: in hepatocellular carcinoma; no effect<li>Missing  at 25-33: in hepatocellular carcinoma<li>D->A at 32: in hepatocellular carcinoma<li>D->G at 32: in PTR and hepatocellular carcinoma, MIM: 132600<li>D->Y at 32: in PTR, hepatoblastoma and hepatocellular carcinoma: in dbSNP rsrs28931588, MIM: 132600<li>S->F at 33: in PTR, MDB and hepatocellular carcinoma, MIM: 132600<li>S->L at 33: in hepatocellular carcinoma, MIM: 132600<li>S->Y at 33: in PTR; enhances transactivation of target genes, MIM: 132600<li>G->E at 34: in PTR, MIM: 132600<li>G->R at 34: in hepatocellular carcinoma, MIM: 132600<li>G->V at 34: in hepatoblastoma: in dbSNP rsrs28931589, MIM: 132600<li>I->S at 35: in hepatocellular carcinoma, MIM: 132600<li>SG->W at 37-38: in hepatocellular carcinoma, MIM: 132600<li>S->A at 37: in MDB and hepatocellular carcinoma; enhances transactivation of target genes, MIM: 155255<li>S->C at 37: in PTR and hepatoblastoma, MIM: 132600<li>S->F at 37: in PTR, MIM: 132600<li>S->Y at 37: in hepatocellular carcinoma, MIM: 132600<li>T->A at 41: in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes, MIM: 132600<li>T->I at 41: in PTR and hepatocellular carcinoma, MIM: 132600<li>S->F at 45: in hepatocellular carcinoma, MIM: 132600<li>S->P at 45: in hepatocellular carcinoma, MIM: 132600<li>M->V at 688: in dbSNP:rs4135384, MIM: 132600</ul>	phosphorylation	GO:0016310					P18168	<li>Medulloblastoma (MDB) [MIM:155255]</li><li>Pilomatrixoma (PTR) [MIM:132600]</li>	<li>rs28931588</li><li>rs28931589</li><li>rs4135384</li>	2
P35225		<ul><li>R->Q at 130: in dbSNP:rs20541</ul>									rs20541	2
P35226	648	<ul><li>C->Y at 18: in dbSNP:rs1042059</ul>									rs1042059	2
P35228	4843	<ul><li>R->W at 221: in dbSNP:rs3730017<li>S->L at 608: in dbSNP:rs2297518<li>A->S at 679: in a breast cancer sample; somatic mutation<li>T->A at 747: in dbSNP:rs28944173<li>R->C at 1009: in dbSNP:rs28944201</ul>									<li>rs28944173</li><li>rs28944201</li><li>rs2297518</li><li>rs3730017</li>	2
P35232	5245	<ul><li>V->A at 88: in breast cancer<li>R->H at 105: in breast cancer</ul>										2
P35237	5269	<ul><li>M->V at 90: in dbSNP:rs2295769<li>G->S at 153: in dbSNP:rs2295766</ul>									<li>rs2295766</li><li>rs2295769</li>	2
P35240	4771	<ul><li>L->R at 46: in vestibular schwannoma<li>F->S at 62: in NF2, MIM: 101000<li>M->V at 77: in NF2, MIM: 101000<li>K->E at 79: in vestibular schwannoma, MIM: 101000<li>Missing  at 96: in NF2 and in sporadic meningioma, MIM: 101000<li>E->G at 106: in NF2, MIM: 101000<li>L->I at 117: in sporadic meningioma, MIM: 101000<li>Missing  at 119: in sporadic meningioma, MIM: 101000<li>Missing  at 122-129: in sporadic meningioma, MIM: 101000<li>L->P at 141: in NF2, MIM: 101000<li>G->C at 197: in NF2, MIM: 101000<li>V->M at 219: in vestibular schwannoma, MIM: 101000<li>N->Y at 220: in NF2, MIM: 101000<li>L->R at 234: in NF2 and in retinal hamartoma; severe, MIM: 101000<li>I->F at 273: in breast ductal carcinoma, MIM: 101000<li>L->F at 339: in sporadic meningioma, MIM: 101000<li>Q->H at 344: in dbSNP:rs2229064, MIM: 101000<li>R->H at 351, MIM: 101000<li>T->M at 352: in NF2, MIM: 101000<li>L->P at 360: in NF2, MIM: 101000<li>K->I at 364: in melanoma, MIM: 101000<li>K->E at 413: in NF2, MIM: 101000<li>R->C at 418: in vestibular schwannoma, MIM: 101000<li>E->K at 463: in a breast cancer sample; somatic mutation, MIM: 101000<li>K->T at 533: in NF2, MIM: 101000<li>L->P at 535: in NF2; late onset, MIM: 101000<li>Q->P at 538: in NF2; mild, MIM: 101000<li>L->H at 539: in NF2, MIM: 101000<li>K->M at 579: in NF2, MIM: 101000</ul>							<li>P59750</li><li>P35240</li>	Neurofibromatosis 2 (NF2) [MIM:101000]	rs2229064	2
P35241	5962	<ul><li>K->E at 328: in dbSNP:rs17854427<li>D->N at 490: in dbSNP:rs34471100<li>D->N at 578: in DFNB24, MIM: 611022</ul>								Non-syndromic sensorineural deafness autosomal recessive type 24 (DFNB24) [MIM:611022]	<li>rs34471100</li><li>rs17854427</li>	2
P35247	6441	<ul><li>M->T at 31: in dbSNP rsrs721917<li>L->V at 123: in dbSNP rsrs17878336<li>A->T at 180: in dbSNP:rs2243639<li>S->T at 290: in dbSNP rsrs3088308<li>E->K at 309: in dbSNP rsrs4469829</ul>									<li>rs3088308</li><li>rs2243639</li><li>rs721917</li><li>rs17878336</li><li>rs4469829</li>	2
P35249	5984	<ul><li>V->A at 292: in dbSNP:rs2066497<li>T->S at 354: in a breast cancer sample; somatic mutation</ul>									rs2066497	2
P35250	5982	<ul><li>A->V at 232: in dbSNP:rs3135684</ul>									rs3135684	2
P35251	5981	<ul><li>I->V at 598: in dbSNP:rs2066791<li>R->L at 613: in dbSNP:rs1057747<li>E->D at 692<li>Q->K at 955<li>S->L at 1146</ul>									<li>rs2066791</li><li>rs1057747</li>	2
P35269	2962	<ul><li>A->V at 3: in dbSNP:rs34826931</ul>									rs34826931	2
P35318	133	<ul><li>S->R at 50: in dbSNP:rs5005<li>P->R at 85: in dbSNP:rs2228573</ul>									<li>rs5005</li><li>rs2228573</li>	2
P35321	6698	<ul><li>H->Q at 42: in dbSNP:rs1611762<li>V->I at 61: in dbSNP:rs1611764</ul>									<li>rs1611762</li><li>rs1611764</li>	2
P35325	6701	<ul><li>P->S at 39: in dbSNP:rs1048268</ul>									rs1048268	2
P35346	6755	<ul><li>G->R at 37: in dbSNP:rs4988482<li>L->M at 48: in dbSNP:rs4988483<li>A->V at 52: in dbSNP:rs4988484<li>W->R at 105: in dbSNP:rs34803074<li>P->S at 109: in dbSNP:rs4988487<li>R->C at 234: in dbSNP:rs34070276<li>L->S at 251: in dbSNP:rs34474910<li>V->I at 267: in dbSNP:rs35125411<li>T->M at 333: in dbSNP:rs12596873<li>P->L at 335: in dbSNP:rs169068<li>R->K at 339: in dbSNP:rs35072648<li>G->R at 357: in dbSNP:rs34947461</ul>									<li>rs34947461</li><li>rs34474910</li><li>rs4988487</li><li>rs34803074</li><li>rs4988484</li><li>rs35072648</li><li>rs4988482</li><li>rs4988483</li><li>rs35125411</li><li>rs169068</li><li>rs34070276</li><li>rs12596873</li>	2
P35348	148	<ul><li>G->W at 40: in a breast cancer sample; somatic mutation<li>I->S at 200: in dbSNP:rs2229125<li>C->R at 347: frequent polymorphism; dbSNP:rs1048101<li>K->R at 414: in dbSNP:rs3730247<li>E->D at 465: in dbSNP:rs2229126</ul>									<li>rs2229126</li><li>rs2229125</li><li>rs3730247</li><li>rs1048101</li>	2
P35354	5743	<ul><li>R->H at 228: in dbSNP:rs3218622<li>P->A at 428: in dbSNP:rs4648279<li>E->G at 488: in dbSNP:rs5272<li>V->A at 511: in dbSNP:rs5273<li>G->R at 587: in dbSNP:rs3218625</ul>									<li>rs3218625</li><li>rs5272</li><li>rs5273</li><li>rs4648279</li><li>rs3218622</li>	2
P35367	3269	<ul><li>K->N at 19: in dbSNP:rs2067466<li>G->E at 270: in dbSNP:rs7651620<li>D->E at 385: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2067466</li><li>rs7651620</li>	2
P35368	147	<ul><li>V->G at 51: in dbSNP:rs8192448</ul>									rs8192448	2
P35372	4988	<ul><li>A->V at 6: in dbSNP:rs1799972<li>N->D at 40: in 10% of the population; dbSNP:rs1799971<li>G->V at 63: in dbSNP:rs9282817<li>S->F at 66: in dbSNP:rs9282819<li>S->C at 147: rare polymorphism; dbSNP:rs17174794<li>N->D at 152: in dbSNP rsrs17174801<li>R->H at 260: rare polymorphism; dbSNP:rs1799974<li>R->C at 265: in dbSNP rsrs17174822<li>D->N at 274: in dbSNP rsrs17174829</ul>									<li>rs17174829</li><li>rs17174822</li><li>rs9282819</li><li>rs9282817</li><li>rs1799974</li><li>rs17174801</li><li>rs17174794</li><li>rs1799971</li><li>rs1799972</li>	2
P35398	6095	<ul><li>P->S at 18: in a colorectal cancer sample; somatic mutation</ul>										2
P35410	116511	<ul><li>D->E at 288: in dbSNP:rs17184100</ul>									rs17184100	2
P35414	187	<ul><li>V->I at 300: in dbSNP:rs7943508</ul>									rs7943508	2
P35442	7058	<ul><li>T->S at 133: in dbSNP:rs36088849<li>L->F at 375: in dbSNP:rs35404985</ul>									<li>rs36088849</li><li>rs35404985</li>	2
P35443	7060	<ul><li>L->Q at 55: in dbSNP:rs17881847<li>A->P at 387: in dbSNP:rs1866389<li>A->V at 420: in dbSNP:rs17882372<li>V->I at 646: in dbSNP:rs2229396<li>V->I at 737: in dbSNP:rs2229398</ul>									<li>rs17881847</li><li>rs1866389</li><li>rs2229398</li><li>rs17882372</li><li>rs2229396</li>	2
P35453	3239	<ul><li>Missing  at 57-63: in BDSD; does not affect capacity to transactivate EPHA7 promoter<li>Missing at 57-58<li>A->AAAAAAAAAA at 57: in SPD and in syndactyly type 5<li>S->A at 252: in dbSNP:rs35290213<li>R->W at 306: in SPD; dbSNP:rs28933082, MIM: 186000<li>S->C at 316: in BDE and BDD; dbSNP:rs28928892, MIM: 113300<li>I->L at 322: in BDE; dbSNP:rs28928891, MIM: 113300<li>Q->R at 325: in syndactyly type 5; impairs capacity to transactivate EPHA7 promoter, MIM: 186300</ul>							<li>O42422</li><li>Q15375</li>	<li>Brachydactyly type D (BDD) [MIM:113200]</li><li>Syndactyly type 5 [MIM:186300]</li><li>Synpolydactyly (SPD) [MIM:186000]</li><li>Brachydactyly type E (BDE) [MIM:113300]</li>	<li>rs28928891</li><li>rs28928892</li><li>rs28933082</li><li>rs35290213</li>	2
P35462	1814	<ul><li>S->G at 9: associated with susceptibility to ETM1; gain of function; dbSNP:rs6280</ul>									rs6280	2
P35475	3425	<ul><li>Missing  at 16-19: in MPS1H<li>H->Q at 33: in dbSNP:rs10794537<li>G->D at 51: in MPS1H, MIM: 607014<li>A->T at 75: in MPS1H, MIM: 607014<li>A->V at 79: in MPS1H/S; reduction of activity and protein levels, MIM: 607015<li>H->P at 82: in MPS1H/S, MIM: 607015<li>H->Q at 82: reduction of protein levels, MIM: 607015<li>R->Q at 89: in MPS1S; in Japanese 21% of alleles, MIM: 607016<li>R->W at 89: in MPS1S, MIM: 607016<li>R->Q at 105: in dbSNP:rs3755955, MIM: 607016<li>G->R at 116, MIM: 607016<li>M->I at 133: in MPS1H, MIM: 607014<li>E->K at 182: in MPS1H, MIM: 607014<li>G->D at 208: in MPS1H, MIM: 607014<li>L->P at 218: in MPS1H, MIM: 607014<li>L->Q at 238: in MPS1H/S, MIM: 607015<li>S->F at 260: in MPS1H/S, MIM: 607015<li>V->A at 279, MIM: 607015<li>A->T at 300: in IDUA pseudodeficiency, MIM: 607015<li>D->Y at 315: in MPS1, MIM: 607015<li>A->P at 327: in MPS1H and MPS1H/S, MIM: 607015<li>L->R at 346: in MPS1H/S; 0.4% of normal activity, MIM: 607015<li>Missing  at 349-350: in MPS1H, MIM: 607015<li>D->N at 349: in MPS1H, MIM: 607014<li>D->Y at 349: in MPS1H, MIM: 607014<li>N->I at 350: in MPS1S, MIM: 607016<li>A->T at 361: in dbSNP:rs6831280, MIM: 607016<li>R->C at 363: in MPS1H/S; loss of activity, MIM: 607015<li>T->P at 366: in MPS1H, MIM: 607014<li>Q->R at 380: in MPS1H/S, MIM: 607015<li>R->H at 383: in MPS1S; 2-3% of normal activity, MIM: 607016<li>T->R at 388: in MPS1H, MIM: 607014<li>L->LALL at 396: in MPS1H, MIM: 607014<li>G->R at 409: in MPS1H; dbSNP:rs11934801, MIM: 607014<li>S->R at 423: in MPS1S; significant reduction of activity and protein levels, MIM: 607016<li>Missing  at 445: in MPS1S, MIM: 607016<li>V->I at 454, MIM: 607016<li>R->P at 489: in MPS1H; dbSNP:rs4690226, MIM: 607014<li>L->P at 490: in MPS1H/S, MIM: 607015<li>R->P at 492: in MPS1S, MIM: 607016<li>P->L at 496: in MPS1H/S, MIM: 607015<li>M->T at 504: in MPS1H/S, MIM: 607015<li>P->R at 533: in MPS1H and MPS1H/S; in 3% of the MPS1H patients, MIM: 607015<li>F->I at 602: in MPS1H/S; reduction of activity and protein levels, MIM: 607015<li>R->G at 619: in MPS1H/S; 1.5% of normal activity, MIM: 607015<li>W->R at 626: in MPS1H/S, MIM: 607015<li>R->P at 628: in MPS1H/S, MIM: 607015</ul>							<li>Q01634</li><li>P54199</li><li>P35475</li><li>P42677</li>	<li>Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]</li><li>Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]</li><li>Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]</li>	<li>rs6831280</li><li>rs11934801</li><li>rs3755955</li><li>rs10794537</li>	2
P35498	6323	<ul><li>E->D at 78: in SMEI, MIM: 607208<li>Y->C at 84, MIM: 607208<li>R->Q at 101: in SMEI, MIM: 607208<li>S->G at 103: in SMEI, MIM: 607208<li>T->I at 112: in SMEI, MIM: 607208<li>R->S at 118: in SMEI, MIM: 607208<li>M->T at 145: in FEB3; loss of function, MIM: 604403<li>G->E at 177: in SMEI, MIM: 607208<li>D->V at 188: in GEFS+2, MIM: 604233<li>W->R at 190: in SMEI, MIM: 607208<li>T->M at 226: in a patient with cryptogenic generalized epilepsy, MIM: 607208<li>I->S at 227: in SMEI, MIM: 607208<li>A->T at 239: in SMEI, MIM: 607208<li>I->N at 252: in SMEI, MIM: 607208<li>G->W at 265: in SMEI, MIM: 607208<li>W->R at 280: in SMEI, MIM: 607208<li>T->I at 297: in SMEI, MIM: 607208<li>G->E at 343: in SMEI, MIM: 607208<li>D->E at 366: in SMEI, MIM: 607208<li>R->Q at 377: in GEFS+2, MIM: 604233<li>R->C at 393: in a patient with myoclonic astatic epilepsy, MIM: 604233<li>R->H at 393: in SMEI, MIM: 607208<li>A->P at 395: in a patient with cryptogenic generalized epilepsy, MIM: 607208<li>V->E at 422: in a patient with cryptogenic generalized epilepsy, MIM: 607208<li>Y->N at 426: in SMEI, MIM: 607208<li>R->Q at 542: associated with autism, MIM: 607208<li>S->G at 626: in a patient with cryptogenic generalized epilepsy, MIM: 607208<li>Y->C at 790: in GEFS+2, MIM: 604233<li>T->S at 808: in SMEI, MIM: 607208<li>T->M at 875: in GEFS+2, MIM: 604233<li>F->C at 902: in SMEI, MIM: 607208<li>R->C at 931: in SMEI, MIM: 607208<li>M->I at 934: in SMEI, MIM: 607208<li>H->Q at 939: in SMEI, MIM: 607208<li>V->A at 944: in SMEI, MIM: 607208<li>R->C at 946: in SMEI, MIM: 607208<li>R->H at 946: in SMEI, MIM: 607208<li>C->R at 959: in SMEI, MIM: 607208<li>M->V at 960: in SMEI, MIM: 607208<li>M->V at 973: in a patient with cryptogenic generalized epilepsy, MIM: 607208<li>G->R at 979: in SMEI, MIM: 607208<li>V->A at 983: in SMEI, MIM: 607208<li>N->I at 985: in SMEI, MIM: 607208<li>L->F at 986: in SMEI; complete loss of function, MIM: 607208<li>N->I at 1011: in SMEI, MIM: 607208<li>I->T at 1034: associated with autism, MIM: 607208<li>F->L at 1038: associated with autism, MIM: 607208<li>A->T at 1067: in dbSNP:rs2298771, MIM: 607208<li>W->R at 1204: in GEFS+2, MIM: 604233<li>L->P at 1207: in SMEI, MIM: 607208<li>S->R at 1231: in SMEI, MIM: 607208<li>G->R at 1233: in SMEI, MIM: 607208<li>E->D at 1238: in SMEI, MIM: 607208<li>F->L at 1263: in SMEI, MIM: 607208<li>L->P at 1265: in SMEI, MIM: 607208<li>K->T at 1270: in GEFS+2, MIM: 604233<li>Missing  at 1289: in SMEI, MIM: 604233<li>V->M at 1335: in SMEI, MIM: 607208<li>V->L at 1353: in GEFS+2; complete loss of function, MIM: 604233<li>L->P at 1355: in SMEI, MIM: 607208<li>W->S at 1358: in SMEI, MIM: 607208<li>S->P at 1362: in SMEI, MIM: 607208<li>V->I at 1366: in GEFS+2 and ICEGTC, MIM: 607208<li>V->M at 1390: in SMEI, MIM: 607208<li>V->A at 1428: in GEFS+2, MIM: 604233<li>W->R at 1434: in SMEI, MIM: 607208<li>Q->R at 1450: in SMEI, MIM: 607208<li>L->I at 1461: in SMEI, MIM: 607208<li>Y->C at 1462: in SMEI, MIM: 607208<li>F->S at 1463: in SMEI, MIM: 607208<li>G->V at 1480: in a patient with myoclonic astatic epilepsy, MIM: 607208<li>Q->K at 1489: in FHM3, MIM: 609634<li>F->S at 1543: in a patient with cryptogenic focal epilepsy, MIM: 609634<li>Missing  at 1559: in SMEI, MIM: 609634<li>R->C at 1596: in a patient with cryptogenic focal epilepsy, MIM: 609634<li>V->F at 1611: in SMEI, MIM: 607208<li>P->S at 1632: in SMEI, MIM: 607208<li>R->Q at 1636: in a patient with Lennon-Gastaut syndrome, MIM: 607208<li>R->C at 1648: in SMEI, MIM: 607208<li>R->H at 1648: in GEFS+2, MIM: 604233<li>I->M at 1656: in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation, MIM: 604233<li>R->C at 1657: in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation; shows a 50% reduction in current density and accelerates recovery from slow inactivation, MIM: 604233<li>R->H at 1657: in a patient with cryptogenic focal epilepsy, MIM: 604233<li>F->S at 1661: in SMEI, MIM: 607208<li>P->A at 1668: in SMEI, MIM: 607208<li>G->R at 1674: in SMEI, MIM: 607208<li>Y->C at 1684: in SMEI, MIM: 607208<li>A->D at 1685: in SMEI, MIM: 607208<li>A->V at 1685: in GEFS+2; complete loss of function, MIM: 604233<li>F->S at 1692: in SMEI, MIM: 607208<li>T->I at 1709: in SMEI, MIM: 607208<li>G->E at 1749: in SMEI, MIM: 607208<li>Missing  at 1766: in SMEI, MIM: 607208<li>M->T at 1780: in SMEI, MIM: 607208<li>Y->C at 1781: in SMEI, MIM: 607208<li>Missing  at 1807-1810: in SMEI, MIM: 607208<li>F->L at 1808: in SMEI, MIM: 607208<li>WEKF->C at 1812-1815: in SMEI, MIM: 607208<li>W->G at 1812: in SMEI, MIM: 607208<li>F->S at 1831: in SMEI, MIM: 607208<li>M->T at 1852: in GEFS+2, MIM: 604233<li>E->D at 1881: in SMEI, MIM: 607208<li>T->I at 1909: in SMEI, MIM: 607208<li>R->G at 1928: in SMEI, MIM: 607208<li>I->T at 1955: associated with autism, MIM: 607208<li>E->G at 1957: in infantile spasms, MIM: 607208</ul>								<li>Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]</li><li>Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]</li><li>Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]</li><li>Familial hemiplegic migraine 3 (FHM3) [MIM:609634]</li><li>Familial febrile convulsions type 3 (FEB3) [MIM:604403]</li>	rs2298771	2
P35499	6329	<ul><li>M->V at 135<li>I->V at 141: in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation, MIM: 608390<li>R->W at 222: in HOKPP, MIM: 170400<li>S->L at 246, MIM: 170400<li>Q->K at 270: in PMC, MIM: 168300<li>V->M at 445: in MYOSCN4A, MIM: 608390<li>E->K at 452: in MYOSCN4A; variable phenotype ranging from mild to severe myotonia, MIM: 608390<li>G->S at 524: in dbSNP rsrs6504191, MIM: 608390<li>N->D at 559: in dbSNP:rs1047705, MIM: 608390<li>R->H at 669: in HOKPP, MIM: 170400<li>F->S at 671: in MYOSCN4A, MIM: 608390<li>R->C at 672: in HOKPP, MIM: 170400<li>R->G at 672: in HOKPP, MIM: 170400<li>R->H at 672: in HOKPP, MIM: 170400<li>R->S at 672: in HOKPP, MIM: 170400<li>R->G at 675: in NKPP, MIM: 170500<li>R->Q at 675: in NKPP, MIM: 170500<li>R->W at 675: in NKPP, MIM: 170500<li>T->M at 704: in HYPP and PMC, MIM: 170500<li>A->T at 715: in MYOSCN4A, MIM: 608390<li>V->I at 781: in HYPP and NKPP, MIM: 170500<li>S->F at 804: in PMC, MIM: 168300<li>S->N at 804: in MYOSCN4A, MIM: 608390<li>A->D at 861, MIM: 608390<li>R->Q at 1132: in HOKPP, MIM: 170400<li>R->H at 1135: in HOKPP, MIM: 170400<li>A->D at 1152: in PMC, MIM: 168300<li>A->T at 1156: in PMC and HYPP, MIM: 170500<li>P->S at 1158: in HOKPP, MIM: 170400<li>I->V at 1160: in MYOSCN4A; acetazolamide-responsive myotonia, MIM: 608390<li>V->I at 1293: in PMC; without cold paralysis, MIM: 168300<li>N->K at 1297: in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset, MIM: 608390<li>G->A at 1306: in PMC, MIM: 168300<li>G->E at 1306: in MYOSCN4A and PMC; severe, MIM: 168300<li>G->V at 1306: in MYOSCN4A and PMC, MIM: 168300<li>I->N at 1310: in MYOSCN4A, MIM: 608390<li>T->M at 1313: in PMC, MIM: 168300<li>D->N at 1376: in dbSNP:rs2058194, MIM: 168300<li>L->R at 1433: in PMC and HYPP, MIM: 170500<li>L->P at 1436: in PMC, MIM: 168300<li>V->E at 1442: in CMSSCNA4, MIM: 603967<li>R->C at 1448: in PMC, MIM: 168300<li>R->H at 1448: in PMC, MIM: 168300<li>R->L at 1448: in PMC, MIM: 168300<li>G->E at 1456: in PMC, MIM: 168300<li>F->S at 1473: in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge, MIM: 168300<li>M->I at 1476: in MYOSCN4A; highly variable severity, MIM: 608390<li>A->D at 1481: in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness, MIM: 608390<li>V->M at 1589: in PMC, MIM: 168300<li>M->V at 1592: in HYPP and NKPP, MIM: 170500<li>F->I at 1705: in PMC; increases the extent of charge immobilization in response to strong depolarization, MIM: 168300</ul>								<li>Periodic paralysis hyperkalemic (HYPP) [MIM:170500]</li><li>Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]</li><li>Periodic paralysis hypokalemic (HOKPP) [MIM:170400]</li><li>Periodic paralysis normokalemic (NKPP) [MIM:170500]</li><li>A congenital myasthenic syndrome due to mutation in SCNA4 (CMSSCNA4) [MIM:603967]</li><li>Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]</li>	<li>rs2058194</li><li>rs6504191</li><li>rs1047705</li>	2
P35503	54659	<ul><li>Q->R at 6: in dbSNP:rs28898617<li>W->R at 11: in dbSNP:rs3821242<li>R->W at 45: in dbSNP:rs45625338<li>V->A at 47: in dbSNP:rs6431625<li>R->W at 49: in dbSNP:rs45595237<li>T->I at 78: in dbSNP:rs28898618<li>M->I at 114: in dbSNP:rs28898619<li>T->I at 144: in dbSNP:rs13406898<li>M->V at 270: in dbSNP:rs45449995</ul>									<li>rs45449995</li><li>rs3821242</li><li>rs6431625</li><li>rs45595237</li><li>rs13406898</li><li>rs45625338</li><li>rs28898619</li><li>rs28898617</li><li>rs28898618</li>	2
P35504	54579	<ul><li>L->S at 48: in dbSNP:rs3755323<li>L->P at 63: in dbSNP:rs3755321<li>T->S at 144: in dbSNP:rs28946885<li>A->G at 158: in dbSNP:rs12475068<li>H->Y at 225: in dbSNP:rs17862867<li>V->L at 249: in dbSNP:rs17862868<li>G->R at 259: in dbSNP:rs3892170</ul>									<li>rs17862867</li><li>rs3755323</li><li>rs17862868</li><li>rs3755321</li><li>rs28946885</li><li>rs12475068</li><li>rs3892170</li>	2
P35520	875	<ul><li>R->C at 18: associated with 1/3 to 2/3 the enzyme activity of the wild-type<li>P->L at 49: in CBSD, MIM: 236200<li>R->W at 58: in CBSD; 18% of activity; linked with Val-113, MIM: 236200<li>H->R at 65: in CBSD, MIM: 236200<li>A->P at 69: in dbSNP:rs17849313, MIM: 236200<li>P->R at 78: in CBSD; 50% of activity; severe form, MIM: 236200<li>G->R at 85: in CBSD; loss of activity, MIM: 236200<li>P->S at 88: in CBSD, MIM: 236200<li>L->P at 101: in CBSD; common mutation in Irish population; loss of activity, MIM: 236200<li>K->N at 102: in CBSD; 50% of activity, MIM: 236200<li>K->Q at 102: in CBSD; severe form; linked with Arg-77; dbSNP:rs34040148, MIM: 236200<li>C->R at 109: in CBSD; loss of activity, MIM: 236200<li>A->V at 114: in CBSD; mild form; when linked with W-58 severe form; partial loss of activity; affects tetramer formation by promoting formation of larger aggregates, MIM: 236200<li>G->R at 116: in CBSD, MIM: 236200<li>R->C at 121: in CBSD, MIM: 236200<li>R->H at 121: in CBSD, MIM: 236200<li>R->L at 121: in CBSD; mild form, MIM: 236200<li>R->P at 125: in CBSD, MIM: 236200<li>R->Q at 125: in CBSD; severe form; loss of activity; when linked with D-132 moderate form, MIM: 236200<li>R->W at 125: in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>M->V at 126: in CBSD; loss of activity, MIM: 236200<li>E->D at 128: in CBSD, MIM: 236200<li>E->D at 131: in CBSD; loss of activity; linked with Q-125, MIM: 236200<li>G->R at 139: in CBSD; mild form, MIM: 236200<li>I->M at 143: in CBSD; 4% of activity; stable, MIM: 236200<li>E->K at 144: in CBSD; loss of activity, MIM: 236200<li>P->L at 145: in CBSD; linked with Q-438, MIM: 236200<li>G->R at 148: in CBSD; loss of activity; absent capacity to form multimeric quaternary structure, MIM: 236200<li>Missing  at 151-159: in CBSD, MIM: 236200<li>G->R at 151: in CBSD, MIM: 236200<li>I->M at 152: in CBSD; severe form, MIM: 236200<li>L->Q at 154: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200<li>A->T at 155: in CBSD; complete loss of activity; severely affects tetramer formation by promoting formation of larger aggregates, MIM: 236200<li>A->V at 155: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200<li>C->Y at 165: in CBSD; severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200<li>V->A at 168: in CBSD, MIM: 236200<li>V->M at 168: in CBSD, MIM: 236200<li>M->V at 173: in CBSD; presents 40% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure, MIM: 236200<li>E->K at 176: in CBSD; severe form; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates, MIM: 236200<li>V->A at 180: in CBSD, MIM: 236200<li>T->M at 191: in CBSD; moderate and severe forms; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>D->V at 198: in CBSD, MIM: 236200<li>R->H at 224: in CBSD, MIM: 236200<li>A->T at 226: in CBSD; presents 20% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure, MIM: 236200<li>N->K at 228: in CBSD; loss of activity, MIM: 236200<li>N->S at 228: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200<li>A->P at 231: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200<li>D->N at 234: in CBSD, MIM: 236200<li>Missing  at 234: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200<li>E->K at 239: in CBSD, MIM: 236200<li>Missing  at 247-256: in CBSD, MIM: 236200<li>T->M at 257: in CBSD; moderate to severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200<li>T->M at 262: in CBSD; moderate form, MIM: 236200<li>T->R at 262: in CBSD; severe form, MIM: 236200<li>R->G at 266: in CBSD, MIM: 236200<li>R->K at 266: in CBSD; mild form: in dbSNP rsrs28934275, MIM: 236200<li>Missing  at 270: in CBSD, MIM: 236200<li>C->Y at 275: in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>I->T at 278: in CBSD; mild to severe form; common mutation; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates; dbSNP:rs5742905, MIM: 236200<li>A->P at 288: in CBSD, MIM: 236200<li>A->T at 288: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200<li>P->L at 290: in CBSD, MIM: 236200<li>E->K at 302: in CBSD; 5% of activity, MIM: 236200<li>G->R at 305: in CBSD, MIM: 236200<li>G->S at 307: in CBSD; moderate to severe form; linked with D-534; has significantly decreased levels of enzyme activity; common mutation, MIM: 236200<li>V->A at 320: in CBSD; has 36% of wild-type enzyme activity, MIM: 236200<li>A->E at 331: in CBSD, MIM: 236200<li>A->V at 331: in CBSD, MIM: 236200<li>R->C at 336: in CBSD; protein expression is comparable to wild-type; loss of activity; absent capacity to form multimeric quaternary structure, MIM: 236200<li>R->H at 336: in CBSD; mild form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>L->P at 338: in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>G->S at 347: in CBSD; protein expression is comparable to wild-type; loss of activity, MIM: 236200<li>S->N at 349: in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>S->N at 352: in CBSD, MIM: 236200<li>T->M at 353: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200<li>V->M at 354: in CBSD, MIM: 236200<li>A->P at 355: in CBSD, MIM: 236200<li>A->T at 361: in CBSD, MIM: 236200<li>R->C at 369: in CBSD; when linked with C-491 severe form, MIM: 236200<li>R->H at 369: in CBSD; dbSNP:rs11700812, MIM: 236200<li>C->Y at 370: in CBSD, MIM: 236200<li>V->M at 371: in CBSD, MIM: 236200<li>D->N at 376: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200<li>R->Q at 379: in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>R->W at 379: in CBSD, MIM: 236200<li>K->E at 384: in CBSD; severe form, MIM: 236200<li>K->N at 384: in CBSD; moderate form, MIM: 236200<li>M->I at 391: in CBSD, MIM: 236200<li>P->L at 422: in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine: in dbSNP rsrs28934892, MIM: 236200<li>T->N at 434: in CBSD, MIM: 236200<li>I->T at 435: in CBSD; does not affect activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine, MIM: 236200<li>R->Q at 439: in CBSD; linked with K-143, MIM: 236200<li>D->N at 444: in CBSD; impaired stimulation by S-adenosylmethionine: in dbSNP rsrs28934891, MIM: 236200<li>V->E at 454: in CBSD, MIM: 236200<li>L->P at 456: in CBSD; severe; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200<li>S->L at 466: in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine, MIM: 236200<li>R->C at 491: in CBSD; linked with C-368, MIM: 236200<li>Q->K at 526: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200<li>V->D at 534: in CBSD; linked with S-306, MIM: 236200<li>L->S at 539: in CBSD, MIM: 236200<li>R->Q at 548: presents 60% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure, MIM: 236200</ul>							<li>Q6G7E9</li><li>Q8NVE3</li><li>P60086</li><li>Q4JIM5</li><li>P60087</li><li>Q6GER3</li><li>P60088</li>	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	<li>rs5742905</li><li>rs11700812</li><li>rs28934892</li><li>rs28934275</li><li>rs17849313</li><li>rs28934891</li><li>rs34040148</li>	2
P35523	1180	<ul><li>R->C at 105: in MCR, MIM: 255700<li>W->G at 118: in dbSNP:rs10282312, MIM: 255700<li>D->G at 136: in MCR, MIM: 255700<li>Y->C at 150: in MCR, MIM: 255700<li>F->V at 161: in MCD and MCR, MIM: 255700<li>V->G at 165: in MCR, MIM: 255700<li>F->L at 167: in MCR, MIM: 255700<li>G->R at 200: in MCD and MCR, MIM: 255700<li>G->E at 230: in MCD and MCR, MIM: 255700<li>V->L at 236: in MCR, MIM: 255700<li>Y->C at 261: in MCR, MIM: 255700<li>G->E at 285: in MCR, MIM: 255700<li>V->A at 286: in MCD, MIM: 160800<li>I->M at 290: in MCD, MIM: 160800<li>E->K at 291: in MCR, MIM: 255700<li>R->Q at 300, MIM: 255700<li>F->S at 307: in MCD, MIM: 160800<li>A->T at 313: in MCD and MCR, MIM: 255700<li>R->Q at 317: in MCD, MIM: 160800<li>V->I at 327: in MCR, MIM: 255700<li>I->T at 329: in MCR, MIM: 255700<li>R->Q at 338: in MCD and MCR, MIM: 255700<li>F->C at 413: in MCR, MIM: 255700<li>A->V at 415: in MCR, MIM: 255700<li>A->T at 437: in dbSNP:rs41276054, MIM: 255700<li>P->L at 480: in MCD, MIM: 160800<li>G->R at 482: in MCR, MIM: 255700<li>M->V at 485: in MCR, MIM: 255700<li>R->S at 496: in MCR, MIM: 255700<li>E->K at 548: in a breast cancer sample; somatic mutation, MIM: 255700<li>Q->R at 552: in MCD, MCR and in myotonia levior, MIM: 255700<li>I->N at 556: in MCD and MCR; mild form, MIM: 255700<li>V->I at 563: in MCR, MIM: 255700<li>F->L at 708: in MCR, MIM: 255700<li>P->L at 727: in dbSNP:rs13438232, MIM: 255700</ul>							<li>Q99J39</li><li>Q3YC04</li><li>P08235</li><li>P01549</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	<li>Autosomal recessive myotonia congenita (MCR) [MIM:255700]</li><li>Autosomal dominant myotonia congenita (MCD) [MIM:160800]</li>	<li>rs10282312</li><li>rs13438232</li><li>rs41276054</li>	2
P35527	3857	<ul><li>M->R at 157: in EPPK, MIM: 144200<li>M->T at 157: in EPPK: in dbSNP rsrs59510579, MIM: 144200<li>M->V at 157: in EPPK: in dbSNP rsrs58597584, MIM: 144200<li>L->F at 160: in EPPK; with knuckle pads: in dbSNP rsrs28940896, MIM: 144200<li>L->V at 160: in EPPK, MIM: 144200<li>N->H at 161: in EPPK, MIM: 144200<li>N->I at 161: in EPPK, MIM: 144200<li>N->K at 161: in EPPK: in dbSNP rsrs57536312, MIM: 144200<li>N->S at 161: in EPPK: in dbSNP rsrs56707768, MIM: 144200<li>N->Y at 161: in EPPK: in dbSNP rsrs59296273, MIM: 144200<li>R->P at 163: in EPPK, MIM: 144200<li>R->Q at 163: in EPPK: in dbSNP rsrs57758262, MIM: 144200<li>R->W at 163: in EPPK: in dbSNP rsrs59616921, MIM: 144200<li>Y->WL at 167: in EPPK, MIM: 144200<li>L->S at 168: in EPPK: in dbSNP rsrs61157095, MIM: 144200<li>V->M at 171: in EPPK: in dbSNP rsrs57019720, MIM: 144200<li>Q->P at 172: in EPPK: in dbSNP rsrs59878153, MIM: 144200<li>L->F at 458: in EPPK: in dbSNP rsrs58120120, MIM: 144200</ul>								<li>EPPK [MIM:149100]</li><li>Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]</li>	<li>rs56707768</li><li>rs58120120</li><li>rs59616921</li><li>rs57758262</li><li>rs28940896</li><li>rs59878153</li><li>rs59296273</li><li>rs58597584</li><li>rs57019720</li><li>rs61157095</li><li>rs57536312</li><li>rs59510579</li>	2
P35542	6291	<ul><li>Y->C at 89: in dbSNP:rs2460827</ul>									rs2460827	2
P35544		<ul><li>T->I at 53</ul>										2
P35548	4488	<ul><li>T->M at 129: in dbSNP:rs4242182<li>P->H at 148: in CRS2; gain of function, MIM: 604757<li>L->P at 154: in PFM1, MIM: 168500<li>Missing  at 159-160: in PFM1; loss of function, MIM: 168500<li>R->H at 172: in PFM1; loss of function, MIM: 168500</ul>							Q9UKN5	<li>Craniosynostosis type 2 (CRS2) [MIM:604757]</li><li>Parietal foramina 1 (PFM1) [MIM:168500]</li>	rs4242182	2
P35555	2200	<ul><li>Y->C at 20: in MFS, MIM: 154700<li>A->T at 27: in dbSNP:rs25397, MIM: 154700<li>R->C at 62: in MFS; also in a patient with ectopia lentis and retinal detachment: in dbSNP rsrs25403, MIM: 154700<li>C->F at 89: in MFS, MIM: 154700<li>C->R at 111: in MFS, MIM: 154700<li>R->C at 114: in MFS, MIM: 154700<li>S->C at 115: in EL, MIM: 129600<li>R->C at 122: in MFS, MIM: 154700<li>C->Y at 123: in MFS, MIM: 154700<li>C->Y at 129: in MFS; severe neonatal, MIM: 154700<li>C->S at 154: in MFS, MIM: 154700<li>C->F at 166: in MFS, MIM: 154700<li>C->S at 166: in MFS, MIM: 154700<li>C->R at 177: in MFS: in dbSNP rsrs363853, MIM: 154700<li>W->G at 217: in MFS, MIM: 154700<li>C->R at 224: in MFS, MIM: 154700<li>R->C at 240: in MFS and EL, MIM: 154700<li>W->C at 366: in MFS, MIM: 154700<li>R->G at 439: in MFS, MIM: 154700<li>C->G at 476: in MFS, MIM: 154700<li>D->Y at 490: in MFS, MIM: 154700<li>C->F at 504: in MFS, MIM: 154700<li>Missing  at 507: in MFS, MIM: 154700<li>C->Y at 541: in MFS, MIM: 154700<li>R->C at 545: in MFS, MIM: 154700<li>N->I at 548: in MFS, MIM: 154700<li>G->S at 560: in MFS, MIM: 154700<li>C->Y at 570: in MFS, MIM: 154700<li>C->Y at 587: in MFS, MIM: 154700<li>G->D at 592: in MFS, MIM: 154700<li>C->Y at 596: in MFS, MIM: 154700<li>C->W at 598: in MFS, MIM: 154700<li>R->C at 627: in MFS; enhances proteolytic degradation, MIM: 154700<li>C->K at 628: in MFS; requires 2 nucleotide substitutions, MIM: 154700<li>Missing  at 629-633: in MFS, MIM: 154700<li>Y->C at 635: in MFS, MIM: 154700<li>R->I at 636: in MFS, MIM: 154700<li>C->S at 652: in MFS, MIM: 154700<li>D->N at 654: in MFS, MIM: 154700<li>C->R at 661: in MFS, MIM: 154700<li>C->Y at 661: in EL; patient presenting also mitral valve prolapse, MIM: 129600<li>S->Y at 681: in MFS, MIM: 154700<li>C->R at 683: in MFS, MIM: 154700<li>C->W at 685: in MFS, MIM: 154700<li>A->T at 705: in MFS, MIM: 154700<li>C->Y at 711: in MFS, MIM: 154700<li>D->A at 723: in MFS, MIM: 154700<li>D->V at 723: in MFS, MIM: 154700<li>C->F at 734: in MFS, MIM: 154700<li>Y->C at 746: in MFS, MIM: 154700<li>C->Y at 748: in MFS, MIM: 154700<li>C->G at 750: in MFS; enhances proteolytic degradation, MIM: 154700<li>C->G at 776: in MFS, MIM: 154700<li>C->Y at 776: in MFS, MIM: 154700<li>C->R at 781: in MFS, MIM: 154700<li>C->Y at 781: in MFS, MIM: 154700<li>C->S at 816: in MFS, MIM: 154700<li>C->Y at 832: in MFS, MIM: 154700<li>C->R at 862: in MFS, MIM: 154700<li>C->G at 890: in MFS, MIM: 154700<li>C->R at 890: in MFS, MIM: 154700<li>C->R at 908: in MFS, MIM: 154700<li>E->G at 913: in MFS, MIM: 154700<li>C->G at 921: in MFS, MIM: 154700<li>C->R at 926: in MFS; enhances proteolytic degradation, MIM: 154700<li>V->I at 984: in MFS, MIM: 154700<li>G->E at 985: in MFS; atypical, MIM: 154700<li>G->R at 985: in MFS, MIM: 154700<li>C->R at 996: in MFS: in dbSNP rsrs140592, MIM: 154700<li>G->R at 1013: in MFS; severe neonatal: in dbSNP rsrs140593, MIM: 154700<li>K->N at 1023: in MFS; severe neonatal, MIM: 154700<li>K->R at 1043: in MFS, MIM: 154700<li>C->Y at 1044: in MFS, MIM: 154700<li>I->T at 1048: in MFS, MIM: 154700<li>Missing  at 1048: in MFS, MIM: 154700<li>C->R at 1053: in MFS, MIM: 154700<li>C->G at 1055: in MFS; neonatal, MIM: 154700<li>C->W at 1055: in MFS, MIM: 154700<li>C->Y at 1055: in MFS, MIM: 154700<li>G->D at 1058: in MFS, MIM: 154700<li>G->GC at 1058: in MFS, MIM: 154700<li>D->G at 1072: in MFS, MIM: 154700<li>E->K at 1073: in MFS; severe neonatal, MIM: 154700<li>C->R at 1074: in MFS; severe neonatal, MIM: 154700<li>C->W at 1086: in MFS, MIM: 154700<li>Y->C at 1101: in MFS, MIM: 154700<li>D->V at 1113: in MFS, MIM: 154700<li>C->G at 1117: in MFS, MIM: 154700<li>C->Y at 1117: in MFS, MIM: 154700<li>G->S at 1127: in a mild form of inherited weakness of elastic tissue that predisposes to ascending aortic aneurysm and dissection later in life, MIM: 154700<li>V->I at 1128: in a patient with mitral valve prolapse, MIM: 154700<li>C->Y at 1129: in MFS, MIM: 154700<li>N->Y at 1131: in MFS, MIM: 154700<li>R->P at 1137: in MFS, MIM: 154700<li>P->A at 1148: in dbSNP:rs140598, MIM: 154700<li>C->S at 1153: in MFS, MIM: 154700<li>C->Y at 1153: in MFS; severe: in dbSNP rsrs140599, MIM: 154700<li>D->N at 1155: in MFS, MIM: 154700<li>R->H at 1170: in MFS; mild, MIM: 154700<li>C->W at 1171: in MFS, MIM: 154700<li>N->K at 1173: in MFS, MIM: 154700<li>E->G at 1200: in MFS, MIM: 154700<li>Missing  at 1211: in MFS, MIM: 154700<li>Y->C at 1219: in MFS, MIM: 154700<li>C->Y at 1223: in MFS and SGS, MIM: 182212<li>C->Y at 1242: in MFS, MIM: 154700<li>C->S at 1249: in MFS, MIM: 154700<li>Y->C at 1261: in MFS, MIM: 154700<li>Y->D at 1261: in MFS, MIM: 154700<li>C->R at 1265: in MFS; subdiagnostic variant of MFS, MIM: 154700<li>C->S at 1278: in MFS, MIM: 154700<li>C->G at 1284: in MFS, MIM: 154700<li>E->Q at 1325: in MFS, MIM: 154700<li>C->S at 1333: in MFS, MIM: 154700<li>A->P at 1337: in MFS; neonatal, MIM: 154700<li>C->Y at 1339: in MFS, MIM: 154700<li>E->K at 1366: in MFS, MIM: 154700<li>C->S at 1374: in MFS, MIM: 154700<li>N->S at 1382: in MFS, MIM: 154700<li>C->R at 1389: in MFS, MIM: 154700<li>Missing  at 1394-1396: in MFS, MIM: 154700<li>C->R at 1402: in MFS, MIM: 154700<li>D->Y at 1404: in MFS, MIM: 154700<li>P->A at 1424: in MFS, MIM: 154700<li>P->S at 1424: in MFS, MIM: 154700<li>C->S at 1429: in MFS, MIM: 154700<li>G->E at 1475: in MFS, MIM: 154700<li>G->S at 1475: in MFS, MIM: 154700<li>C->R at 1513: in MFS, MIM: 154700<li>R->C at 1530: in EL, MIM: 129600<li>C->F at 1564: in MFS, MIM: 154700<li>C->Y at 1564: in MFS, MIM: 154700<li>M->T at 1576: in MFS, MIM: 154700<li>C->F at 1589: in MFS, MIM: 154700<li>C->G at 1610: in MFS, MIM: 154700<li>C->G at 1631: in MFS, MIM: 154700<li>C->R at 1663: in MFS, MIM: 154700<li>C->Y at 1663: in MFS, MIM: 154700<li>Missing  at 1692-1699: in WMS, MIM: 154700<li>C->F at 1770: in MFS, MIM: 154700<li>R->P at 1790: in MFS, MIM: 154700<li>C->R at 1791: in MFS, MIM: 154700<li>C->Y at 1791: in MFS, MIM: 154700<li>C->W at 1793: in MFS, MIM: 154700<li>G->E at 1796: in MFS, MIM: 154700<li>C->S at 1806: in MFS, MIM: 154700<li>C->Y at 1806: in MFS, MIM: 154700<li>C->S at 1833: in MFS, MIM: 154700<li>C->Y at 1835: in MFS, MIM: 154700<li>P->S at 1837: in MFS, MIM: 154700<li>C->Y at 1876: in MFS, MIM: 154700<li>T->I at 1887: in MFS, MIM: 154700<li>N->K at 1893: in MFS, MIM: 154700<li>C->R at 1895: in MFS, MIM: 154700<li>C->Y at 1900: in MFS, MIM: 154700<li>I->T at 1909: in MFS, MIM: 154700<li>R->S at 1915: in MFS, MIM: 154700<li>C->G at 1928: in MFS, MIM: 154700<li>C->R at 1928: in MFS, MIM: 154700<li>C->Y at 1928: in MFS, MIM: 154700<li>Missing  at 1931: in MFS, MIM: 154700<li>C->Y at 1971: in MFS, MIM: 154700<li>C->Y at 1977: in MFS, MIM: 154700<li>C->Y at 1998: in MFS, MIM: 154700<li>C->Y at 2038: in MFS: in dbSNP rsrs363804, MIM: 154700<li>C->R at 2085: in MFS, MIM: 154700<li>C->W at 2099: in MFS, MIM: 154700<li>T->M at 2101, MIM: 154700<li>C->R at 2111: in MFS: in dbSNP rsrs363815, MIM: 154700<li>C->Y at 2111: in MFS, MIM: 154700<li>D->E at 2127: in MFS, MIM: 154700<li>C->Y at 2142: in MFS, MIM: 154700<li>N->S at 2144: in MFS, MIM: 154700<li>C->W at 2151: in MFS, MIM: 154700<li>P->R at 2154: in EL, MIM: 129600<li>A->P at 2160: in MFS, MIM: 154700<li>C->F at 2221: in MFS, MIM: 154700<li>C->G at 2221: in MFS, MIM: 154700<li>C->S at 2221: in MFS, MIM: 154700<li>N->H at 2223: in MFS, MIM: 154700<li>C->R at 2251: in MFS, MIM: 154700<li>C->R at 2258: in MFS, MIM: 154700<li>I->T at 2269: in MFS, MIM: 154700<li>R->W at 2282: in MFS, MIM: 154700<li>C->S at 2307: in MFS, MIM: 154700<li>R->W at 2335: in MFS, MIM: 154700<li>C->Y at 2339: in EL; patient presenting also flat corneas, MIM: 129600<li>A->T at 2385: in MFS, MIM: 154700<li>C->Y at 2406: in MFS, MIM: 154700<li>C->W at 2442: in MFS, MIM: 154700<li>E->K at 2447: in EL, MIM: 129600<li>Y->C at 2474: in MFS, MIM: 154700<li>C->R at 2489: in MFS, MIM: 154700<li>C->R at 2500: in MFS, MIM: 154700<li>C->Y at 2500: in MFS, MIM: 154700<li>C->R at 2511: in MFS, MIM: 154700<li>C->W at 2535: in MFS, MIM: 154700<li>G->R at 2536: in MFS, MIM: 154700<li>E->K at 2570: in MFS, MIM: 154700<li>C->R at 2571: in MFS, MIM: 154700<li>C->F at 2581: in MFS, MIM: 154700<li>I->T at 2585: in MFS, MIM: 154700<li>C->S at 2592: in MFS, MIM: 154700<li>C->R at 2605: in MFS, MIM: 154700<li>C->Y at 2605: in MFS, MIM: 154700<li>E->K at 2610: in MFS, MIM: 154700<li>G->R at 2618: in MFS, MIM: 154700<li>H->P at 2623: in MFS, MIM: 154700<li>N->K at 2624: in MFS, MIM: 154700<li>G->R at 2627: in MFS, MIM: 154700<li>Y->C at 2629: in MFS, MIM: 154700<li>C->G at 2652: in MFS, MIM: 154700<li>C->S at 2663: in MFS, MIM: 154700<li>G->C at 2668: in MFS, MIM: 154700<li>R->C at 2680: in MFS, MIM: 154700<li>R->W at 2726: in MFS; defects in protein processing, MIM: 154700</ul>	protein processing	GO:0016485						<li>Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]</li><li>Marfan syndrome (MFS) [MIM:154700]</li><li>Isolated ectopia lentis (EL) [MIM:129600]</li>	<li>rs140593</li><li>rs140592</li><li>rs25397</li><li>rs363853</li><li>rs140599</li><li>rs25403</li><li>rs140598</li><li>rs363815</li><li>rs363804</li>	2
P35556	2201	<ul><li>E->K at 390: in CCA, MIM: 121050<li>S->T at 593, MIM: 121050<li>R->H at 680, MIM: 121050<li>V->I at 964: in dbSNP rsrs154001, MIM: 121050<li>G->D at 1056: in CCA, MIM: 121050<li>I->T at 1092: in CCA, MIM: 121050<li>D->H at 1114: in CCA, MIM: 121050<li>C->F at 1141: in CCA, MIM: 121050<li>G->C at 1178: in CCA, MIM: 121050<li>C->Y at 1197: in CCA, MIM: 121050<li>C->R at 1239: in CCA, MIM: 121050<li>C->W at 1252: in CCA: in dbSNP rsrs28931602, MIM: 121050<li>C->Y at 1252: in CCA, MIM: 121050<li>C->W at 1256: in CCA, MIM: 121050<li>C->R at 1267: in CCA, MIM: 121050<li>C->S at 1433: in CCA, MIM: 121050<li>G->W at 1771, MIM: 121050<li>L->F at 2265, MIM: 121050<li>P->T at 2427: in dbSNP:rs1801169, MIM: 121050<li>L->S at 2580: in dbSNP:rs2291628, MIM: 121050<li>P->S at 2770: in dbSNP:rs1801170, MIM: 121050</ul>							<li>P82859</li><li>O02197</li>	Congenital contractural arachnodactyly (CCA) [MIM:121050]	<li>rs28931602</li><li>rs154001</li><li>rs2291628</li><li>rs1801169</li><li>rs1801170</li>	2
P35557	2645	<ul><li>D->N at 4<li>A->T at 11<li>R->W at 36: in MODY2, MIM: 125851<li>A->S at 53: in MODY2, MIM: 125851<li>E->K at 70: in MODY2; large increase in Km for glucose, MIM: 125851<li>G->A at 80: in MODY2, MIM: 125851<li>G->S at 80: in MODY2, MIM: 125851<li>M->T at 107, MIM: 125851<li>Y->H at 108: in MODY2, MIM: 125851<li>I->T at 110: in MODY2, MIM: 125851<li>A->D at 119: in MODY2, MIM: 125851<li>S->P at 131: in MODY2; significant increase in the Km and in the affinity for ATP, MIM: 125851<li>H->R at 137: in MODY2, MIM: 125851<li>F->S at 150: in MODY2, MIM: 125851<li>L->P at 164: in MODY2, MIM: 125851<li>T->P at 168: in MODY2, MIM: 125851<li>G->R at 175: in MODY2, MIM: 125851<li>V->M at 182: in MODY2, MIM: 125851<li>A->T at 188: in MODY2; large increase in Km for glucose, MIM: 125851<li>V->A at 203: in MODY2, MIM: 125851<li>T->M at 209: in MODY2, MIM: 125851<li>M->K at 210: in MODY2, MIM: 125851<li>M->T at 210: in MODY2, MIM: 125851<li>C->R at 213: in MODY2, MIM: 125851<li>E->K at 221: in MODY2, MIM: 125851<li>V->M at 226: in MODY2, MIM: 125851<li>G->C at 227: in MODY2, MIM: 125851<li>T->M at 228: in MODY2, MIM: 125851<li>E->K at 256: in MODY2, MIM: 125851<li>W->R at 257: in MODY2; almost complete loss of activity, MIM: 125851<li>A->T at 259: in MODY2, MIM: 125851<li>G->E at 261: in MODY2, MIM: 125851<li>G->R at 261: in MODY2, MIM: 125851<li>E->Q at 279: in MODY2, MIM: 125851<li>G->R at 299: in MODY2, MIM: 125851<li>E->K at 300: in MODY2, MIM: 125851<li>E->Q at 300: in MODY2, MIM: 125851<li>L->P at 309: in MODY2, MIM: 125851<li>S->L at 336: in MODY2, MIM: 125851<li>V->M at 367: in MODY2, MIM: 125851<li>C->Y at 382: in MODY2, MIM: 125851<li>A->T at 384: in MODY2, MIM: 125851<li>G->V at 385: in MODY2, MIM: 125851<li>R->C at 392: in MODY2, MIM: 125851<li>K->E at 414: in MODY2; large increase in Km for glucose, MIM: 125851<li>V->M at 455: in HHF3, MIM: 602485</ul>							Q8NIG3	<li>Familial hyperinsulinemic hypoglycemia type 3 (HHF3) [MIM:602485]</li><li>Maturity onset diabetes of the young type 2 (MODY2) [MIM:125851]</li>		2
P35558	5105	<ul><li>R->Q at 55: in dbSNP:rs28383585<li>M->T at 60: in dbSNP:rs28383586<li>T->I at 138: in dbSNP:rs28359542<li>V->L at 184: in dbSNP:rs707555<li>I->V at 267: in dbSNP:rs8192708<li>E->K at 276: in dbSNP:rs11552145<li>V->I at 368: in dbSNP:rs1804160<li>P->S at 427: in dbSNP:rs28359550<li>E->D at 586: in dbSNP:rs1042529</ul>									<li>rs28359550</li><li>rs8192708</li><li>rs28359542</li><li>rs28383586</li><li>rs11552145</li><li>rs1042529</li><li>rs1804160</li><li>rs707555</li><li>rs28383585</li>	2
P35568	3667	<ul><li>P->R at 158: in dbSNP:rs1801108<li>M->T at 209: in dbSNP:rs1801118<li>A->P at 512: in dbSNP:rs1801276<li>T->R at 608: may contribute to insulin resistance by impairing metabolic signaling through PI3K-dependent pathways<li>Missing  at 723: in NIDDM<li>S->F at 809: in dbSNP:rs1801120<li>S->G at 892: in dbSNP:rs1801277<li>G->R at 971: in dbSNP:rs1801278<li>S->Y at 1043: in NIDDM, MIM: 125853<li>C->Y at 1095: in NIDDM, MIM: 125853<li>D->N at 1137: in dbSNP:rs3731594, MIM: 125853</ul>							<li>P23727</li><li>Q9Z1L0</li><li>P48736</li><li>P0C236</li><li>P07453</li><li>P42633</li><li>P27986</li><li>P68243</li><li>P68992</li><li>P81423</li><li>P32871</li><li>P54673</li><li>P54675</li><li>P54674</li><li>P26450</li><li>P68245</li><li>P54676</li><li>P69046</li><li>P01316</li><li>P01314</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P18109</li><li>P12704</li><li>P12708</li><li>P67974</li><li>P67973</li><li>P67971</li><li>O35904</li><li>P01330</li><li>P69048</li><li>P69047</li><li>P01324</li><li>O00329</li><li>P42348</li><li>P01320</li><li>P42347</li><li>P01328</li><li>Q8UUU2</li><li>Q63787</li><li>Q9TQY7</li><li>P01340</li><li>Q9JHG7</li><li>P67969</li><li>P68990</li><li>P67968</li><li>P68991</li><li>P01336</li><li>P81881</li><li>P68988</li><li>P42338</li><li>P13190</li><li>P01334</li><li>P68987</li><li>O02697</li><li>P42337</li><li>P01331</li><li>P42336</li><li>P09477</li><li>P09476</li><li>P68989</li><li>Q8BTI9</li>	The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs1801278</li><li>rs1801277</li><li>rs1801118</li><li>rs1801276</li><li>rs1801120</li><li>rs1801108</li><li>rs3731594</li>	2
P35573	178	<ul><li>T->A at 38: in dbSNP:rs35278779<li>Q->R at 229: in dbSNP:rs17121403<li>R->Q at 387: in dbSNP:rs17121464<li>A->S at 701: in dbSNP:rs3736297<li>S->C at 962: in dbSNP:rs34714252<li>P->S at 1067: in dbSNP:rs3753494<li>G->R at 1115: in dbSNP:rs2230307<li>I->N at 1144: in dbSNP:rs2230308<li>A->T at 1207: in dbSNP:rs11807956<li>R->H at 1253: in dbSNP:rs12043139<li>E->K at 1343<li>G->R at 1448: in GSD3, MIM: 232400<li>R->G at 1487: in dbSNP:rs12118058, MIM: 232400</ul>								Glycogen storage disease type 3 (GSD3) [MIM:232400]	<li>rs2230307</li><li>rs35278779</li><li>rs2230308</li><li>rs11807956</li><li>rs17121403</li><li>rs12118058</li><li>rs12043139</li><li>rs17121464</li><li>rs3753494</li><li>rs34714252</li><li>rs3736297</li>	2
P35575	2538	<ul><li>M->R at 5: in GSD1A, MIM: 232200<li>T->A at 16: in GSD1A, MIM: 232200<li>T->R at 16: in GSD1A; abolishes enzyme activity as well as reduces enzyme stability, MIM: 232200<li>Q->R at 20: in GSD1A, MIM: 232200<li>D->V at 38: in GSD1A, MIM: 232200<li>Q->P at 54: in GSD1A, MIM: 232200<li>W->R at 63: in GSD1A, MIM: 232200<li>A->P at 65: in GSD1A, MIM: 232200<li>G->R at 68: in GSD1A, MIM: 232200<li>K->N at 76: in GSD1A, MIM: 232200<li>W->R at 77: in GSD1A, MIM: 232200<li>G->R at 81: in GSD1A, MIM: 232200<li>R->C at 83: in GSD1A; loss of catalytic activity; dbSNP:rs1801175, MIM: 232200<li>R->H at 83: in GSD1A; dbSNP:rs1801176, MIM: 232200<li>R->I at 83: in GSD1A, MIM: 232200<li>T->I at 108: in GSD1A, MIM: 232200<li>E->K at 110: in GSD1A, MIM: 232200<li>T->I at 111: in GSD1A, MIM: 232200<li>P->L at 113: in GSD1A, MIM: 232200<li>P->L at 116: in a breast cancer sample; somatic mutation, MIM: 232200<li>H->L at 119: in GSD1A, MIM: 232200<li>G->D at 122: in GSD1A, MIM: 232200<li>A->T at 124: in GSD1A, MIM: 232200<li>W->L at 156: in GSD1A, MIM: 232200<li>V->A at 166: in GSD1A, MIM: 232200<li>V->G at 166: in GSD1A, MIM: 232200<li>R->Q at 170: in GSD1A, MIM: 232200<li>F->C at 177: in GSD1A, MIM: 232200<li>P->S at 178: in GSD1A, MIM: 232200<li>H->P at 179: in GSD1A, MIM: 232200<li>G->E at 184: in GSD1A, MIM: 232200<li>G->V at 184: in GSD1A, MIM: 232200<li>G->D at 188: in GSD1A, MIM: 232200<li>G->R at 188: in GSD1A, MIM: 232200<li>G->S at 188: in GSD1A, MIM: 232200<li>Y->C at 209: in GSD1A; abolishes enzyme activity as well as reduces enzyme stability, MIM: 232200<li>L->P at 211: in GSD1A, MIM: 232200<li>G->R at 222: in GSD1A, MIM: 232200<li>W->R at 236: in GSD1A, MIM: 232200<li>A->T at 241: in GSD1A, MIM: 232200<li>P->L at 257: in GSD1A, MIM: 232200<li>N->K at 264: in GSD1A, MIM: 232200<li>L->P at 265: in GSD1A, MIM: 232200<li>G->V at 266: in GSD1A, MIM: 232200<li>G->R at 270: in GSD1A, MIM: 232200<li>G->V at 270: in GSD1A, MIM: 232200<li>G->W at 270: in GSD1A, MIM: 232200<li>R->C at 295: in GSD1A, MIM: 232200<li>S->P at 298: in GSD1A, MIM: 232200<li>F->L at 322: in GSD1A, MIM: 232200<li>Missing  at 327: in GSD1A, MIM: 232200<li>V->F at 338: in GSD1A, MIM: 232200<li>I->N at 341: in GSD1A, MIM: 232200<li>L->R at 345: in GSD1A, MIM: 232200</ul>			catalytic activity	GO:0003824				Glycogen storage disease type 1A (GSD1A) [MIM:232200]	<li>rs1801176</li><li>rs1801175</li>	2
P35579	4627	<ul><li>N->K at 93: in MHA, MIM: 155100<li>A->T at 95: in MHA, MIM: 155100<li>S->L at 96: in EPS, MIM: 153650<li>K->N at 373: in MHA and SBS, MIM: 605249<li>R->C at 702: in APSM, EPS, FTNS, MHA and SBS, MIM: 605249<li>R->H at 702: in APSM and EPS, MIM: 153650<li>R->H at 705: in DFNA17, MIM: 603622<li>K->N at 810: in a breast cancer sample; somatic mutation, MIM: 603622<li>K->Q at 910: in FTNS, MIM: 153640<li>V->E at 967: in dbSNP:rs16996652, MIM: 153640<li>Missing  at 1066-1072: in MHA and SBS, MIM: 153640<li>S->P at 1114: in APSM, MIM: 153650<li>T->I at 1155: in MHA and FTNS, MIM: 155100<li>R->C at 1165: in FTNS and SBS, MIM: 605249<li>R->L at 1165: in FTNS, MHA and SBS, MIM: 605249<li>Missing  at 1205-1207: in SBS, MIM: 605249<li>R->W at 1400: in a EPS patient; might contribute to pathogenicity; when associated with L-96, MIM: 605249<li>D->H at 1424: in FTNS and MHA, MIM: 155100<li>D->N at 1424: in FTNS, MHA, SBS and MPSD; affects protein stability, MIM: 605249<li>D->Y at 1424: in MHA, MIM: 155100<li>I->V at 1626: in dbSNP:rs2269529, MIM: 155100<li>I->V at 1816: in EPS, MIM: 153650<li>E->K at 1841: in FTNS, SBS, MHA and EPS, MIM: 605249</ul>							O81192	<li>May-Hegglin anomaly (MHA) [MIM:155100]</li><li>Fechtner syndrome (FTNS) [MIM:153640]</li><li>Epstein syndrome (EPS) [MIM:153650]</li><li>Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]</li><li>Macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 17 (DFNA17) [MIM:603622]</li><li>Sebastian syndrome (SBS) [MIM:605249]</li>	<li>rs2269529</li><li>rs16996652</li>	2
P35590	7075	<ul><li>V->M at 448: in dbSNP rsrs56302794<li>A->V at 1104: in dbSNP rsrs35573981<li>R->H at 1109: in dbSNP rsrs34993202</ul>									<li>rs35573981</li><li>rs56302794</li><li>rs34993202</li>	2
P35609	88	<ul><li>Q->R at 9: in CMD1AA, MIM: 612158<li>M->V at 604: in dbSNP:rs35997569, MIM: 612158</ul>								Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]	rs35997569	2
P35610	6646	<ul><li>Q->R at 526: in dbSNP:rs13306731</ul>									rs13306731	2
P35611	118	<ul><li>R->C at 6: in dbSNP:rs2295497<li>Y->N at 270: in dbSNP:rs4971<li>E->D at 376: in dbSNP:rs4972<li>G->W at 460: in dbSNP:rs4961<li>N->I at 510: in dbSNP:rs4962<li>S->C at 586: in dbSNP:rs4963</ul>									<li>rs2295497</li><li>rs4962</li><li>rs4971</li><li>rs4963</li><li>rs4972</li><li>rs4961</li>	2
P35612	119	<ul><li>D->N at 28: in dbSNP:rs4986<li>S->C at 98: in dbSNP:rs4987<li>E->D at 335: in dbSNP:rs4982<li>T->A at 439: in dbSNP:rs17855969<li>S->R at 663: in dbSNP:rs4985</ul>									<li>rs4982</li><li>rs4985</li><li>rs4987</li><li>rs4986</li><li>rs17855969</li>	2
P35613	682	<ul><li>E->K at 208: in Ok<li>G->V at 269: in dbSNP:rs1803203</ul>									rs1803203	2
P35625	7078	<ul><li>S->C at 179: in SFD, MIM: 136900<li>G->C at 189: in SFD, MIM: 136900<li>G->C at 190: in SFD, MIM: 136900<li>Y->C at 191: in SFD, MIM: 136900<li>S->C at 204: in SFD, MIM: 136900</ul>								Sorsby fundus dystrophy (SFD) [MIM:136900]		2
P35626	157	<ul><li>R->S at 50: in dbSNP rsrs55700971<li>N->S at 60: in dbSNP rsrs55740593<li>R->K at 104: in a lung bronchoalveolar carcinoma sample; somatic mutation<li>V->M at 409: in dbSNP:rs2272859</ul>									<li>rs55740593</li><li>rs2272859</li><li>rs55700971</li>	2
P35637	2521	<ul><li>R->C at 244: in ALS6, MIM: 608030<li>K->Q at 312: in a breast cancer sample; somatic mutation, MIM: 608030<li>R->G at 514: in ALS6, MIM: 608030<li>R->S at 514: in ALS6, MIM: 608030<li>G->C at 515: in ALS6, MIM: 608030<li>H->Q at 517: does not affect protein nuclear localization, MIM: 608030<li>R->K at 518: in ALS6, MIM: 608030<li>R->C at 521: in ALS6; results in aberrant trafficking and cytoplasmic retention of the protein, MIM: 608030<li>R->G at 521: in ALS6; results in aberrant trafficking and cytoplasmic retention of the protein, MIM: 608030<li>R->H at 521: in ALS6; results in aberrant trafficking and cytoplasmic retention of the protein, MIM: 608030<li>R->G at 522: in ALS6, MIM: 608030<li>R->S at 524: in ALS6, MIM: 608030<li>R->T at 524: in ALS6, MIM: 608030<li>P->L at 525: in ALS6, MIM: 608030</ul>	localization	GO:0051179						Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]		2
P35638	1649	<ul><li>A->V at 115: in a colorectal cancer sample; somatic mutation</ul>										2
P35658	8021	<ul><li>G->A at 424: in a breast cancer sample; somatic mutation<li>P->S at 574: in dbSNP:rs103612<li>P->L at 1378: in a breast cancer sample; somatic mutation<li>A->V at 1392: in a breast cancer sample; somatic mutation</ul>									rs103612	2
P35659	7913	<ul><li>V->A at 140: in dbSNP:rs17336208</ul>									rs17336208	2
P35663	1538	<ul><li>D->H at 399: in dbSNP:rs12008888</ul>									rs12008888	2
P35670	540	<ul><li>A->D at 14<li>N->S at 41: in WD, MIM: 277900<li>G->V at 85: in WD, MIM: 277900<li>G->D at 96, MIM: 277900<li>V->L at 290, MIM: 277900<li>I->V at 390, MIM: 277900<li>S->A at 406: in dbSNP:rs1801243, MIM: 277900<li>V->L at 446, MIM: 277900<li>V->L at 456: in dbSNP:rs1801244, MIM: 277900<li>L->V at 466, MIM: 277900<li>A->S at 486: in WD, MIM: 277900<li>L->S at 492: in WD, MIM: 277900<li>Y->H at 532: in WD, MIM: 277900<li>N->S at 565, MIM: 277900<li>G->D at 591: in WD, MIM: 277900<li>A->P at 604: in WD, MIM: 277900<li>FD->Y at 608-609: in WD, MIM: 277900<li>R->Q at 616: in WD, MIM: 277900<li>R->W at 616: in WD, MIM: 277900<li>G->A at 626: in WD, MIM: 277900<li>H->Y at 639: in WD, MIM: 277900<li>L->S at 641: in WD, MIM: 277900<li>D->H at 642: in WD, MIM: 277900<li>M->R at 645: in WD, MIM: 277900<li>S->Y at 653: in WD, MIM: 277900<li>M->I at 665: in WD, MIM: 277900<li>Missing  at 670-671: in WD, MIM: 277900<li>P->L at 690: in WD, MIM: 277900<li>G->R at 691: in WD, MIM: 277900<li>S->C at 693: in WD, MIM: 277900<li>C->Y at 703: in WD, MIM: 277900<li>L->P at 708: in WD, MIM: 277900<li>G->A at 710: in WD, MIM: 277900<li>G->R at 710: in WD, MIM: 277900<li>G->S at 710: in WD, MIM: 277900<li>G->V at 710: in WD, MIM: 277900<li>G->E at 711: in WD, MIM: 277900<li>G->R at 711: in WD, MIM: 277900<li>G->W at 711: in WD, MIM: 277900<li>Y->C at 713: in WD, MIM: 277900<li>S->P at 721: in WD, MIM: 277900<li>R->G at 723, MIM: 277900<li>T->R at 737: in WD, MIM: 277900<li>Y->C at 741: in WD, MIM: 277900<li>S->P at 744: in WD, MIM: 277900<li>I->F at 747: in WD, MIM: 277900<li>A->G at 756: in WD, MIM: 277900<li>P->L at 760: in WD, MIM: 277900<li>D->G at 765: in WD, MIM: 277900<li>D->N at 765: in WD: in dbSNP rsrs28942075, MIM: 277900<li>T->M at 766: in WD, MIM: 277900<li>T->R at 766: in WD, MIM: 277900<li>P->H at 768: in WD, MIM: 277900<li>M->I at 769: in WD, MIM: 277900<li>M->R at 769: in WD, MIM: 277900<li>M->V at 769: in WD, MIM: 277900<li>L->P at 776: in WD, MIM: 277900<li>L->V at 776: possible polymorphism, MIM: 277900<li>R->G at 778: in WD, MIM: 277900<li>R->L at 778: in WD; most common mutation: in dbSNP rsrs28942074, MIM: 277900<li>R->Q at 778: in WD, MIM: 277900<li>R->W at 778: in WD, MIM: 277900<li>L->F at 795: in WD, MIM: 277900<li>L->R at 795: in WD, MIM: 277900<li>K->R at 832: in dbSNP:rs1061472, MIM: 277900<li>P->L at 840: in WD, MIM: 277900<li>I->T at 857: in WD, MIM: 277900<li>A->T at 861: in WD, MIM: 277900<li>V->I at 864, MIM: 277900<li>G->R at 869: in WD, MIM: 277900<li>G->V at 869: in WD, MIM: 277900<li>A->V at 874: in WD, MIM: 277900<li>R->G at 875, MIM: 277900<li>R->V at 875: in WD; requires 2 nucleotide substitutions, MIM: 277900<li>V->M at 890: in WD, MIM: 277900<li>G->V at 891: in WD, MIM: 277900<li>Q->R at 898: in WD, MIM: 277900<li>D->E at 918: in WD, MIM: 277900<li>D->N at 918: in WD, MIM: 277900<li>R->G at 919: in WD, MIM: 277900<li>R->W at 919: in WD, MIM: 277900<li>S->N at 921: in WD, MIM: 277900<li>T->P at 933: in WD, MIM: 277900<li>T->M at 935: in WD, MIM: 277900<li>G->C at 943: in WD, MIM: 277900<li>G->D at 943: in WD, MIM: 277900<li>G->S at 943: in WD: in dbSNP rsrs28942076, MIM: 277900<li>V->G at 949: in WD, MIM: 277900<li>K->R at 952: in dbSNP:rs732774, MIM: 277900<li>I->F at 967: in WD; dbSNP:rs60003608, MIM: 277900<li>R->Q at 969: in WD, MIM: 277900<li>S->Y at 975: in WD, MIM: 277900<li>T->M at 977: in WD, MIM: 277900<li>C->Y at 985: in WD, MIM: 277900<li>G->R at 988: in WD, MIM: 277900<li>T->M at 991: in WD; dbSNP:rs41292782, MIM: 277900<li>P->H at 992: in WD, MIM: 277900<li>P->L at 992: in WD; common mutation, MIM: 277900<li>V->A at 995, MIM: 277900<li>M->T at 996: in WD, MIM: 277900<li>G->R at 1000: in WD, MIM: 277900<li>A->T at 1003: in WD, MIM: 277900<li>A->V at 1003: in WD, MIM: 277900<li>A->V at 1018: in WD, MIM: 277900<li>T->I at 1029: in WD, MIM: 277900<li>T->I at 1031: in WD, MIM: 277900<li>T->A at 1033: in WD, MIM: 277900<li>T->S at 1033: in WD, MIM: 277900<li>G->V at 1035: in WD, MIM: 277900<li>R->K at 1038: in WD; dbSNP:rs59959366, MIM: 277900<li>R->P at 1041: in WD, MIM: 277900<li>R->W at 1041: in WD, MIM: 277900<li>L->P at 1043: in WD, MIM: 277900<li>P->L at 1052: in WD, MIM: 277900<li>G->E at 1061: in WD, MIM: 277900<li>A->V at 1063: in WD; could be a polymorphism, MIM: 277900<li>E->A at 1064: in WD, MIM: 277900<li>E->K at 1064: in WD, MIM: 277900<li>A->P at 1065: in WD, MIM: 277900<li>E->G at 1068: in WD; common mutation, MIM: 277900<li>H->Q at 1069: in WD; common mutation, MIM: 277900<li>L->F at 1083: in WD, MIM: 277900<li>G->E at 1089: in WD, MIM: 277900<li>G->V at 1089: in WD, MIM: 277900<li>F->L at 1094: in WD, MIM: 277900<li>Q->P at 1095: in WD, MIM: 277900<li>P->R at 1098: in WD, MIM: 277900<li>G->S at 1099: in WD, MIM: 277900<li>G->R at 1101: in WD, MIM: 277900<li>I->T at 1102: in WD, MIM: 277900<li>C->F at 1104: in WD, MIM: 277900<li>C->Y at 1104: in WD, MIM: 277900<li>V->D at 1106: in WD, MIM: 277900<li>V->I at 1106: in WD, MIM: 277900<li>V->M at 1109, MIM: 277900<li>G->D at 1111: in WD, MIM: 277900<li>V->A at 1140: in dbSNP:rs1801249, MIM: 277900<li>Q->H at 1142: in WD, MIM: 277900<li>T->N at 1143, MIM: 277900<li>V->M at 1146: in WD, MIM: 277900<li>I->T at 1148: in WD; dbSNP:rs60431989, MIM: 277900<li>R->H at 1151: in WD, MIM: 277900<li>W->C at 1153: in WD, MIM: 277900<li>W->R at 1153: in WD, MIM: 277900<li>A->S at 1168: in WD, MIM: 277900<li>M->T at 1169: in WD, MIM: 277900<li>M->V at 1169: possible polymorphism, MIM: 277900<li>E->K at 1173: in WD, MIM: 277900<li>G->E at 1176: in WD, MIM: 277900<li>G->R at 1176: in WD, MIM: 277900<li>A->G at 1183: in WD, MIM: 277900<li>A->T at 1183: in WD, MIM: 277900<li>G->C at 1186: in WD, MIM: 277900<li>G->S at 1186: in WD, MIM: 277900<li>H->R at 1207: in dbSNP:rs7334118, MIM: 277900<li>G->V at 1213: in WD, MIM: 277900<li>Missing  at 1216-1217: in WD, MIM: 277900<li>V->M at 1216: in WD, MIM: 277900<li>Missing  at 1217-1218: in WD, MIM: 277900<li>T->M at 1220: in WD, MIM: 277900<li>G->E at 1221: in WD, MIM: 277900<li>D->N at 1222: in WD, MIM: 277900<li>D->V at 1222: in WD, MIM: 277900<li>D->Y at 1222: in WD, MIM: 277900<li>T->P at 1232: in WD, MIM: 277900<li>V->G at 1239: in WD, MIM: 277900<li>P->S at 1245, MIM: 277900<li>K->N at 1248: in WD, MIM: 277900<li>V->I at 1252: in WD, MIM: 277900<li>L->I at 1255: in WD, MIM: 277900<li>Q->R at 1256: in WD, MIM: 277900<li>V->F at 1262: in WD, MIM: 277900<li>G->R at 1266: in WD; common mutation, MIM: 277900<li>G->V at 1266: in WD, MIM: 277900<li>D->A at 1267: in WD, MIM: 277900<li>N->S at 1270: in WD, MIM: 277900<li>D->N at 1271: in WD, MIM: 277900<li>P->L at 1273: in WD, MIM: 277900<li>A->V at 1278: in WD; uncertain pathogenicity, MIM: 277900<li>D->G at 1279: in WD, MIM: 277900<li>D->Y at 1279: in WD, MIM: 277900<li>Missing  at 1285-1292: in WD, MIM: 277900<li>G->S at 1287: in WD, MIM: 277900<li>D->N at 1296: in WD, MIM: 277900<li>V->I at 1297, MIM: 277900<li>Missing  at 1297: in WD, MIM: 277900<li>L->P at 1305: in WD, MIM: 277900<li>S->R at 1310: in WD, MIM: 277900<li>R->P at 1322: in WD, MIM: 277900<li>L->V at 1327: in WD, MIM: 277900<li>Y->S at 1331: in WD, MIM: 277900<li>I->T at 1336: in WD, MIM: 277900<li>G->D at 1341: in WD, MIM: 277900<li>G->S at 1341: in WD, MIM: 277900<li>G->V at 1341: in WD, MIM: 277900<li>P->S at 1352: in WD, MIM: 277900<li>W->R at 1353: in WD, MIM: 277900<li>G->C at 1355: in WD, MIM: 277900<li>G->S at 1355: in WD, MIM: 277900<li>A->S at 1358: in WD, MIM: 277900<li>S->F at 1363: in WD, MIM: 277900<li>L->P at 1368: in WD, MIM: 277900<li>L->P at 1373: in WD, MIM: 277900<li>L->R at 1373: in WD, MIM: 277900<li>C->S at 1375: in WD, MIM: 277900<li>P->S at 1379: in WD, MIM: 277900<li>D->E at 1407, MIM: 277900<li>T->M at 1434: in WD; dbSNP:rs60986317, MIM: 277900</ul>								Wilson disease (WD) [MIM:277900]	<li>rs59959366</li><li>rs60986317</li><li>rs7334118</li><li>rs1801243</li><li>rs1801244</li><li>rs1061472</li><li>rs41292782</li><li>rs1801249</li><li>rs28942076</li><li>rs28942075</li><li>rs60431989</li><li>rs28942074</li><li>rs60003608</li><li>rs732774</li>	2
P35680	6928	<ul><li>S->F at 36: in MODY5; gain-of-function mutation, MIM: 604284<li>V->G at 61: in MODY5, MIM: 604284<li>G->C at 76: in MODY5, MIM: 604284<li>V->G at 110: in MODY5, MIM: 604284<li>R->P at 112: in MODY5, MIM: 604284<li>Q->E at 136: in MODY5, MIM: 604284<li>S->L at 148: in MODY5, MIM: 604284<li>S->W at 148: in RCAD, MIM: 137920<li>S->P at 151: in renal tract malformation, MIM: 137920<li>H->N at 153: in MODY5, MIM: 604284<li>K->E at 156: in MODY5; has diminished transcriptional activity by loss of DNA binding activity, MIM: 604284<li>K->Q at 164: in MODY5, MIM: 604284<li>R->H at 165: in MODY5, MIM: 604284<li>R->Q at 235: in MODY5, MIM: 604284<li>A->T at 241: in diabetic nephropathy, MIM: 604284<li>E->D at 260: in MODY5; insignificant differences in transactivation ability between wild-type and mutated HNF1B, MIM: 604284<li>R->G at 276: in MODY5, MIM: 604284<li>R->Q at 276: in MODY5, MIM: 604284<li>G->D at 285: in MODY5, MIM: 604284<li>R->C at 295: in MODY5, MIM: 604284<li>R->H at 295: in MODY5, MIM: 604284<li>R->P at 295: in MODY5, MIM: 604284<li>G->S at 370: in MODY5, MIM: 604284<li>S->R at 465: in NIDDM; 22% reduction in activity, MIM: 125853<li>G->S at 492: in diabetes; ealy onset association; uncertain pathogenicity; dbSNP:rs1805035, MIM: 125853</ul>			DNA binding	GO:0003677			<li>Q63149</li><li>P24503</li><li>P55283</li><li>P35680</li><li>P39038</li><li>Q03365</li>	<li>Renal cysts and diabetes syndrome (RCAD) [MIM:137920]</li><li>Maturity-onset diabetes of the young type 5 (MODY5) [MIM:604284]</li><li>Type 2 diabetes mellitus non-insulin dependent (NIDDM) [MIM:125853]</li>	rs1805035	2
P35713	54345	<ul><li>W->R at 95: in HLTS; dbSNP:rs28936693, MIM: 607823<li>A->P at 104: in HLTS; dbSNP:rs28936692, MIM: 607823</ul>								Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	<li>rs28936693</li><li>rs28936692</li>	2
P35749	4629	<ul><li>A->T at 1104: in dbSNP:rs34263860<li>A->T at 1234: in dbSNP:rs16967494<li>Missing  at 1241-1264: in AAT4<li>V->A at 1289: in dbSNP:rs16967510<li>V->M at 1310: in dbSNP:rs7196804<li>M->V at 1508: in dbSNP:rs35176378<li>R->Q at 1758: in AAT4, MIM: 132900</ul>								Aortic aneurysm familial thoracic type 4 (AAT4) [MIM:132900]	<li>rs16967510</li><li>rs35176378</li><li>rs7196804</li><li>rs34263860</li><li>rs16967494</li>	2
P35754	2745	<ul><li>D->Y at 47: in dbSNP:rs4767</ul>									rs4767	2
P35789	81931	<ul><li>D->Y at 93: in dbSNP:rs12151060</ul>									rs12151060	2
P35858	3483	<ul><li>L->F at 97: in dbSNP:rs35947557<li>P->L at 307: in dbSNP:rs34297640<li>P->S at 498: in dbSNP:rs9282730<li>R->W at 548: in dbSNP:rs9282731</ul>									<li>rs35947557</li><li>rs9282731</li><li>rs9282730</li><li>rs34297640</li>	2
P35869	196	<ul><li>P->S at 517<li>R->K at 554: in dbSNP:rs2066853<li>V->I at 570: in dbSNP:rs4986826<li>M->V at 786</ul>									<li>rs2066853</li><li>rs4986826</li>	2
P35900	54474	<ul><li>S->R at 4: in a colorectal cancer sample; somatic mutation<li>S->N at 129: in dbSNP:rs7212483</ul>									rs7212483	2
P35908	3849	<ul><li>Q->P at 187: in IBS, MIM: 146800<li>I->N at 188: in IBS, MIM: 146800<li>N->D at 192: in IBS, MIM: 146800<li>N->K at 192: in IBS, MIM: 146800<li>N->Y at 192: in IBS, MIM: 146800<li>E->D at 471: in IBS, MIM: 146800<li>E->K at 471: in IBS, MIM: 146800<li>E->K at 482: in IBS, MIM: 146800<li>E->V at 482: in IBS, MIM: 146800<li>I->N at 483: in IBS, MIM: 146800<li>T->P at 485: in IBS, MIM: 146800<li>L->P at 490: in IBS, MIM: 146800<li>E->D at 493: in IBS, MIM: 146800<li>E->K at 493: in IBS, MIM: 146800<li>E->K at 494: in IBS, MIM: 146800</ul>								Ichthyosis bullosa of Siemens (IBS) [MIM:146800]		2
P35913	5158	<ul><li>R->C at 74: in RP; autosomal recessive, MIM: 268000<li>E->K at 166, MIM: 268000<li>Y->H at 212, MIM: 268000<li>Y->H at 219: in RP; autosomal recessive, MIM: 268000<li>L->H at 228: in RP; autosomal recessive and autosomal dominant, MIM: 268000<li>L->I at 228, MIM: 268000<li>H->N at 258: in CSNBAD2, MIM: 163500<li>V->I at 320: in dbSNP:rs10902758, MIM: 163500<li>L->P at 527: in RP; autosomal recessive, MIM: 268000<li>I->N at 535: in RP; autosomal recessive, MIM: 268000<li>R->Q at 552: in RP; autosomal recessive, MIM: 268000<li>H->Y at 557: in RP; autosomal dominant, MIM: 268000<li>G->D at 576: in RP; autosomal recessive, MIM: 268000<li>E->D at 654: in dbSNP:rs17849286, MIM: 268000<li>L->R at 699: in RP; autosomal recessive, MIM: 268000<li>L->R at 854: in RP; autosomal recessive, MIM: 268000</ul>								<li>Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]</li><li>Retinitis pigmentosa (RP) [MIM:268000]</li>	<li>rs10902758</li><li>rs17849286</li>	2
P35914	3155	<ul><li>R->Q at 41: in HMG-CoA lyase deficiency, MIM: 246450<li>D->E at 42: in HMG-CoA lyase deficiency, MIM: 246450<li>D->G at 42: in HMG-CoA lyase deficiency, MIM: 246450<li>D->H at 42: in HMG-CoA lyase deficiency, MIM: 246450<li>V->L at 70: in HMG-CoA lyase deficiency, MIM: 246450<li>H->R at 233: in HMG-CoA lyase deficiency, MIM: 246450<li>E->K at 279: in HMG-CoA lyase deficiency: in dbSNP rsrs28934894, MIM: 246450</ul>							<li>P38060</li><li>Q5R9E1</li><li>P97519</li><li>Q8HXZ6</li><li>P13703</li><li>P35915</li><li>Q29448</li><li>P35914</li>	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA lyase deficiency) [MIM:246450]	rs28934894	2
P35916	2324	<ul><li>N->D at 149: in dbSNP rsrs34221241<li>R->C at 378: in a renal clear cell carcinoma sample; somatic mutation<li>T->A at 494: in dbSNP:rs307826<li>N->S at 527: in dbSNP:rs35874891<li>P->S at 641: does not affect kinase activity: in dbSNP rsrs55667289<li>G->R at 857: in LYH1A; loss of kinase activity, MIM: 153100<li>H->Y at 868: in dbSNP rsrs35171798, MIM: 153100<li>H->Q at 890: in dbSNP:rs448012, MIM: 153100<li>P->S at 954: in juvenile hemangioma: in dbSNP rsrs34255532, MIM: 153100<li>T->I at 1010: in a metastatic melanoma sample; somatic mutation, MIM: 153100<li>R->Q at 1031: in dbSNP rsrs56082504, MIM: 153100<li>H->R at 1035: in LYH1A; loss of kinase activity, MIM: 153100<li>R->P at 1041: in LYH1A; loss of kinase activity, MIM: 153100<li>L->P at 1044: in LYH1A; loss of kinase activity, MIM: 153100<li>D->N at 1049: in dbSNP rsrs56310180, MIM: 153100<li>R->Q at 1075, MIM: 153100<li>P->L at 1114: in LYH1A; loss of kinase activity, MIM: 153100<li>P->S at 1137: in juvenile hemangioma, MIM: 153100<li>R->H at 1146: in dbSNP rsrs1130379, MIM: 153100</ul>			kinase activity	GO:0016301				Lymphedema hereditary type 1 (LYH1A) [MIM:153100]	<li>rs35171798</li><li>rs34221241</li><li>rs34255532</li><li>rs56310180</li><li>rs307826</li><li>rs56082504</li><li>rs35874891</li><li>rs1130379</li><li>rs55667289</li><li>rs448012</li>	2
P35968	3791	<ul><li>Q->R at 2: in a lung adenocarcinoma sample; somatic mutation<li>V->M at 136: in dbSNP:rs35636987<li>A->G at 248: in a renal clear cell carcinoma sample; somatic mutation<li>R->L at 275: in a colorectal cancer sample; somatic mutation<li>V->I at 297: in dbSNP:rs2305948<li>L->V at 462: in dbSNP:rs56286620<li>Q->H at 472: in dbSNP:rs1870377<li>C->R at 482: in dbSNP:rs34231037<li>G->R at 539: in dbSNP:rs55716939<li>T->M at 689: in dbSNP:rs34038364<li>D->N at 814: in dbSNP:rs35603373<li>V->E at 848: in dbSNP:rs1139776<li>G->R at 873: in a colorectal cancer sample; somatic mutation<li>V->I at 952: in dbSNP:rs13129474<li>A->T at 1065: in dbSNP:rs56302315</ul>									<li>rs34038364</li><li>rs35636987</li><li>rs1139776</li><li>rs13129474</li><li>rs35603373</li><li>rs2305948</li><li>rs34231037</li><li>rs1870377</li><li>rs56302315</li><li>rs55716939</li><li>rs56286620</li>	2
P36021	6567	<ul><li>A->V at 150: in MCT8 deficiency, MIM: 300523<li>L->P at 397: in MCT8 deficiency, MIM: 300523<li>L->P at 438: in MCT8 deficiency, MIM: 300523</ul>							P36021	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]		2
P36222	1116	<ul><li>R->G at 145: in dbSNP:rs880633<li>I->T at 311: in dbSNP:rs1049407</ul>									<li>rs1049407</li><li>rs880633</li>	2
P36269	2687	<ul><li>L->I at 11: in dbSNP:rs5760274<li>K->R at 330: in dbSNP:rs2275984<li>Q->H at 332: in dbSNP:rs6004105<li>I->V at 475: in dbSNP:rs7288201</ul>									<li>rs7288201</li><li>rs2275984</li><li>rs5760274</li><li>rs6004105</li>	2
P36382	2702	<ul><li>P->S at 88: in atrial fibrillation; idiopatic somatic<li>A->S at 96: in atrial fibrillation; idiopatic</ul>										2
P36404	402	<ul><li>V->A at 141: in dbSNP:rs664226</ul>									rs664226	2
P36405	403	<ul><li>L->M at 34: in dbSNP:rs1141895</ul>									rs1141895	2
P36406	373	<ul><li>D->N at 480: in dbSNP:rs34046496</ul>									rs34046496	2
P36507	5605	<ul><li>F->C at 57: in CFC syndrome, MIM: 115150</ul>								Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]		2
P36508	7629	<ul><li>T->M at 48: in dbSNP:rs2228265<li>R->C at 272: in dbSNP:rs33959228<li>R->Q at 403: in dbSNP:rs35582935</ul>									<li>rs35582935</li><li>rs2228265</li><li>rs33959228</li>	2
P36543	529	<ul><li>R->G at 50: in a colorectal cancer sample; somatic mutation</ul>										2
P36551	1371	<ul><li>V->A at 135: in HCP, MIM: 121300<li>Missing  at 162-168: in HCP, MIM: 121300<li>G->S at 189: in HCP; <5% of activity, MIM: 121300<li>G->W at 197: in HCP, MIM: 121300<li>E->K at 201: in HCP, MIM: 121300<li>S->F at 208: in HCP: in dbSNP rsrs28929486, MIM: 121300<li>L->R at 214: in HCP, MIM: 121300<li>P->R at 249: in HCP, MIM: 121300<li>P->S at 249: in HCP, MIM: 121300<li>N->H at 272: in dbSNP:rs1131857, MIM: 121300<li>G->R at 280: in HCP, MIM: 121300<li>V->I at 294: in dbSNP:rs2228056, MIM: 121300<li>H->D at 295: in HCP, MIM: 121300<li>R->C at 328: in HCP: in dbSNP rsrs28929487, MIM: 121300<li>R->W at 331: in HCP, MIM: 121300<li>R->C at 352: in dbSNP:rs11921054, MIM: 121300<li>Missing  at 390: in HCP, MIM: 121300<li>K->E at 404: in HCP; harderoporphyria form, MIM: 121300<li>W->R at 427: in HCP, MIM: 121300<li>R->C at 447: in HCP: in dbSNP rsrs28931603, MIM: 121300</ul>							<li>P96095</li><li>Q8X6L0</li><li>Q7MVY0</li><li>Q01770</li><li>Q8G969</li><li>Q87QG0</li><li>P16230</li><li>Q7MLM1</li><li>Q8ZGE1</li><li>O27502</li><li>Q8EH67</li><li>Q8PS69</li><li>P29350</li><li>Q8ZQE8</li><li>Q58175</li><li>Q898N5</li><li>Q9X0Q4</li><li>Q8R6M9</li><li>P02760</li><li>Q8D8V3</li><li>Q8FJE0</li><li>Q8RFL1</li><li>Q8XHA1</li><li>Q83S05</li><li>Q8Z829</li><li>Q8KBT4</li><li>Q8A9X8</li><li>P75825</li><li>P31101</li><li>P23327</li>	Hereditary coproporphyria (HCP) [MIM:121300]	<li>rs11921054</li><li>rs2228056</li><li>rs28931603</li><li>rs28929486</li><li>rs28929487</li><li>rs1131857</li>	2
P36575	407	<ul><li>L->F at 44: in dbSNP:rs17855428</ul>									rs17855428	2
P36639	4521	<ul><li>M->V at 124: in dbSNP:rs4866</ul>									rs4866	2
P36776	9361	<ul><li>E->D at 87: in dbSNP:rs34413649<li>R->Q at 241: in dbSNP:rs11085147</ul>									<li>rs11085147</li><li>rs34413649</li>	2
P36871	5236	<ul><li>K->M at 68: in allele PGM1*7+, allele PGM1*7-, allele PGM1*3+ and allele PGM1*3-<li>I->V at 88: in dbSNP:rs855314<li>R->C at 221: in allele PGM1*2+, allele PGM1*2-, allele PGM1*3+ and allele PGM1*3-; dbSNP:rs1126728<li>Y->H at 420: in allele PGM1*1-, allele PGM1*2-, allele PGM1*3- and allele PGM1*7-; dbSNP:rs11208257<li>V->I at 501: in dbSNP:rs6676290</ul>							<li>P93262</li><li>P00949</li><li>Q9M4G4</li><li>P33401</li><li>O04499</li><li>Q42908</li><li>P36871</li><li>Q9SNX2</li><li>Q9ZSQ4</li><li>Q9SM60</li><li>Q4R5E4</li>		<li>rs855314</li><li>rs11208257</li><li>rs6676290</li><li>rs1126728</li>	2
P36873	5501	<ul><li>F->S at 152: in dbSNP:rs11558237</ul>									rs11558237	2
P36888	2322	<ul><li>D->G at 7: in dbSNP:rs12872889<li>V->A at 158: in dbSNP rsrs56321896<li>V->M at 194<li>T->M at 227: in dbSNP:rs1933437<li>D->N at 324: in dbSNP:rs35602083<li>D->V at 358: in dbSNP rsrs34172843<li>V->I at 557: in dbSNP:rs35958982</ul>									<li>rs1933437</li><li>rs34172843</li><li>rs56321896</li><li>rs12872889</li><li>rs35602083</li><li>rs35958982</li>	2
P36894	657	<ul><li>P->T at 2: in dbSNP rsrs11528010<li>F->Y at 58: in a renal clear cell carcinoma sample; somatic mutation<li>Y->D at 62: in JPS, MIM: 174900<li>C->Y at 82: in JPS, MIM: 174900<li>C->R at 124: in JPS, MIM: 174900<li>C->R at 130: in JPS, MIM: 174900<li>A->D at 338: in CD, MIM: 158350<li>C->Y at 376: in JPS, MIM: 174900<li>R->C at 443: in JPS: in dbSNP rsrs35619497, MIM: 174900<li>V->M at 450: in dbSNP rsrs55932635, MIM: 174900<li>M->T at 470: in JPS, MIM: 174900<li>R->Q at 486: in a gastric adenocarcinoma sample; somatic mutation, MIM: 174900</ul>								<li>Juvenile polyposis syndrome (JPS) [MIM:174900]</li><li>Cowden disease (CD) [MIM:158350]</li>	<li>rs55932635</li><li>rs35619497</li><li>rs11528010</li>	2
P36896	91	<ul><li>F->L at 146: in dbSNP rsrs34488074<li>L->V at 408: in dbSNP:rs928906</ul>									<li>rs34488074</li><li>rs928906</li>	2
P36897	7046	<ul><li>Missing  at 24-26: in allele TGFBR1*6A; could be a tumor susceptibility allele<li>A->AA at 26: in allele TGFBR1*10A; rare polymorphism<li>I->V at 139<li>V->I at 153: in dbSNP rsrs56014374<li>T->I at 200: in LDS1A, MIM: 609192<li>K->E at 232: in LDS2A, MIM: 608967<li>S->L at 241: in LDS1A, MIM: 609192<li>N->H at 267: in a patient with Marfan syndrome, MIM: 609192<li>Y->C at 291: in dbSNP rsrs35974499, MIM: 609192<li>M->R at 318: in LDS1A, MIM: 609192<li>D->G at 400: in LDS1A, MIM: 609192<li>R->P at 487: in LDS1A and LDS2A, MIM: 608967<li>R->Q at 487: in LDS2A and AAT5, MIM: 608967<li>R->W at 487: in LDS2A, MIM: 608967</ul>							<li>Q5CD18</li><li>P36897</li><li>O46680</li>	<li>Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]</li><li>Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]</li><li>Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]</li>	<li>rs35974499</li><li>rs56014374</li>	2
P36941	4055	<ul><li>V->I at 274: in dbSNP:rs35681405</ul>									rs35681405	2
P36952		<ul><li>S->P at 176: in dbSNP:rs2289519<li>V->L at 187: in dbSNP:rs2289520<li>I->V at 319: in dbSNP:rs1455555</ul>									<li>rs2289520</li><li>rs2289519</li><li>rs1455555</li>	2
P36955		<ul><li>M->T at 72: in dbSNP:rs1136287<li>P->R at 132: in dbSNP:rs1804145</ul>									<li>rs1804145</li><li>rs1136287</li>	2
P36956	6720	<ul><li>N->S at 306: in dbSNP:rs17855793<li>A->T at 309: in dbSNP:rs35188700<li>V->M at 417: in dbSNP:rs2229590<li>V->M at 580: in dbSNP:rs36215896<li>R->H at 746: in dbSNP:rs2228461<li>S->L at 834: in dbSNP:rs17855792<li>T->A at 1000: in dbSNP:rs1042017<li>A->P at 1008: in dbSNP:rs35014224</ul>									<li>rs1042017</li><li>rs2228461</li><li>rs17855793</li><li>rs35188700</li><li>rs36215896</li><li>rs35014224</li><li>rs2229590</li><li>rs17855792</li>	2
P36957		<ul><li>A->P at 213<li>P->T at 384</ul>										2
P36959	2766	<ul><li>A->T at 234<li>F->I at 256: in dbSNP:rs1042391</ul>									rs1042391	2
P36969	2879	<ul><li>S->N at 2: in dbSNP:rs8178967<li>A->T at 120: in infertility; reduced activity</ul>									rs8178967	2
P37023	94	<ul><li>GA->EP at 48-49: in HHT2<li>G->R at 48: in HHT2, MIM: 600376<li>W->C at 50: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376<li>C->Y at 51: in HHT2, MIM: 600376<li>R->Q at 67: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376<li>R->W at 67: in HHT2, MIM: 600376<li>C->W at 77: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376<li>N->D at 96: in HHT2, MIM: 600376<li>D->A at 179: in HHT2; mutant protein is capable of targeting the cell surface appropriately, MIM: 600376<li>G->D at 211: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum: in dbSNP rsrs28936687, MIM: 600376<li>E->K at 215: in HHT2, MIM: 600376<li>G->R at 223: in HHT2, MIM: 600376<li>K->R at 229: in HHT2, MIM: 600376<li>Missing  at 232: in HHT2; mutant protein is capable of targeting the cell surface appropriately, MIM: 600376<li>Missing  at 233: in HHT2, MIM: 600376<li>I->N at 245: in dbSNP:rs1804508, MIM: 600376<li>Missing  at 254: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376<li>L->F at 285: in HHT2, MIM: 600376<li>A->P at 306: in HHT2, MIM: 600376<li>H->Y at 314: in HHT2, MIM: 600376<li>S->I at 333: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376<li>L->P at 337: in HHT2, MIM: 600376<li>C->Y at 344: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum: in dbSNP rsrs28936688, MIM: 600376<li>A->P at 347: in HHT2, MIM: 600376<li>R->Q at 374: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376<li>R->W at 374: in HHT2: in dbSNP rsrs28936401, MIM: 600376<li>M->R at 376: in HHT2: in dbSNP rsrs28936399, MIM: 600376<li>M->V at 376: in HHT2, MIM: 600376<li>P->L at 378: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376<li>E->K at 379: in HHT2, MIM: 600376<li>D->G at 397: in HHT2, MIM: 600376<li>I->N at 398: in HHT2: in dbSNP rsrs28936400, MIM: 600376<li>W->S at 399: in HHT2: in dbSNP rsrs28936402, MIM: 600376<li>E->D at 407: in HHT2, MIM: 600376<li>R->P at 411: in HHT2: in dbSNP rsrs28936398, MIM: 600376<li>R->Q at 411: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum: in dbSNP rsrs28936398, MIM: 600376<li>R->W at 411: in HHT2, MIM: 600376<li>P->T at 424: in HHT2, MIM: 600376<li>F->L at 425: in HHT2, MIM: 600376<li>F->V at 425: in HHT2, MIM: 600376<li>Missing  at 425: in HHT2, MIM: 600376<li>R->L at 479: in HHT2, MIM: 600376<li>A->V at 482: in HHT2, MIM: 600376<li>R->W at 484: in HHT2, MIM: 600376<li>K->T at 487: in HHT2; mutant protein is capable of targeting the cell surface appropriately, MIM: 600376</ul>					<li>cytoplasm</li><li>endoplasmic reticulum</li><li>cell surface</li>	<li>GO:0005737</li><li>GO:0005783</li><li>GO:0009928,GO:0009986</li>	<li>P61833</li><li>P61831</li><li>P61830</li><li>Q757N1</li><li>P69150</li>	Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	<li>rs28936687</li><li>rs28936399</li><li>rs28936688</li><li>rs28936398</li><li>rs28936400</li><li>rs28936402</li><li>rs28936401</li><li>rs1804508</li>	2
P37058	3293	<ul><li>V->I at 31: in dbSNP:rs2066480<li>A->T at 56: in MPH; Cambridge-2. Affects NADPH cofactor binding, MIM: 264300<li>S->L at 65: in MPH, MIM: 264300<li>R->Q at 80: in MPH; Gaza, MIM: 264300<li>R->W at 80: in MPH, MIM: 264300<li>N->S at 130: in MPH; Cambridge-1. Complete loss of activity, MIM: 264300<li>Q->P at 176: in MPH, MIM: 264300<li>A->V at 203: in MPH, MIM: 264300<li>V->E at 205: in MPH, MIM: 264300<li>F->I at 208: in MPH, MIM: 264300<li>E->D at 215: in MPH, MIM: 264300<li>S->L at 232: in MPH: in dbSNP rsrs28939085, MIM: 264300<li>M->V at 235: in MPH, MIM: 264300<li>C->Y at 268: in MPH; complete loss of activity, MIM: 264300<li>P->L at 282: in MPH, MIM: 264300<li>G->S at 289: in dbSNP:rs2066479, MIM: 264300</ul>			cofactor binding	GO:0048037				Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	<li>rs28939085</li><li>rs2066480</li><li>rs2066479</li>	2
P37059	3294	<ul><li>A->T at 121: in dbSNP:rs8191136</ul>									rs8191136	2
P37088	6337	<ul><li>G->C at 327: in PHA1, MIM: 264350<li>P->H at 402: in dbSNP:rs13306616, MIM: 264350<li>W->R at 493: rare polymorphism; dbSNP:rs5742912, MIM: 264350<li>S->L at 562: in PHA1, MIM: 264350<li>C->F at 618: in dbSNP:rs3741913, MIM: 264350<li>T->A at 663: in dbSNP:rs2228576, MIM: 264350</ul>								Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) [MIM:264350]	<li>rs3741913</li><li>rs2228576</li><li>rs5742912</li><li>rs13306616</li>	2
P37108	6727	<ul><li>P->S at 51: in dbSNP:rs1802601<li>S->I at 68: in dbSNP:rs1802600<li>P->A at 124: in dbSNP:rs7535<li>T->A at 125: in dbSNP:rs16924476<li>A->T at 127: in dbSNP:rs16924521<li>T->A at 130: in dbSNP:rs4814</ul>									<li>rs4814</li><li>rs16924521</li><li>rs7535</li><li>rs16924476</li><li>rs1802601</li><li>rs1802600</li>	2
P37173	7048	<ul><li>M->V at 36: in dbSNP:rs17025864<li>C->R at 61: in a gastric adenocarcinoma sample; somatic mutation<li>I->V at 73: in a colorectal cancer sample; somatic mutation<li>V->I at 191: in dbSNP:rs56105708<li>L->P at 308: in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934568, MIM: 610380<li>T->M at 315: in HNPCC6; dbSNP:rs34833812, MIM: 190182<li>H->Y at 328: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 190182<li>Y->N at 336: in LDS1B, MIM: 610168<li>A->P at 355: in LDS1B, MIM: 610168<li>G->W at 357: in LDS1B, MIM: 610168<li>M->I at 373: in dbSNP:rs35719192, MIM: 610168<li>V->M at 387: in a breast tumor; dbSNP:rs35766612, MIM: 610168<li>N->S at 435: in a breast tumor; signaling of TGF-beta significantly inhibited, MIM: 610168<li>V->A at 439: in dbSNP:rs1050833, MIM: 610168<li>V->A at 447: in a breast tumor; signaling of TGF-beta significantly inhibited, MIM: 610168<li>S->F at 449: in LDS2B; has a negative effect on TGF-beta signaling, MIM: 610380<li>L->M at 452: in a breast tumor; signaling of TGF-beta significantly inhibited, MIM: 610380<li>R->C at 460: in AAT3, MIM: 610380<li>R->H at 460: in AAT3, MIM: 610380<li>N->S at 490: in a gastric adenocarcinoma sample; somatic mutation, MIM: 610380<li>E->Q at 526: in esophageal cancer, MIM: 133239<li>R->C at 528: in LDS1B, MIM: 610168<li>R->H at 528: in LDS1B, MIM: 610168<li>R->C at 537: in LDS2B; has a negative effect on TGF-beta signaling: in dbSNP rsrs28934869, MIM: 610380</ul>								<li>Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]</li><li>Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]</li><li>Esophageal cancer [MIM:133239]</li><li>Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]</li><li>Hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:190182]</li>	<li>rs28934869</li><li>rs1050833</li><li>rs34833812</li><li>rs28934568</li><li>rs17025864</li><li>rs35719192</li><li>rs35766612</li><li>rs56105708</li>	2
P37198	23636	<ul><li>G->S at 139: in dbSNP:rs3745489<li>A->S at 233: in dbSNP:rs2290772<li>S->T at 283: in dbSNP:rs1062798<li>Q->P at 391: in SNDI, MIM: 271930</ul>								Infantile striatonigral degeneration (SNDI) [MIM:271930]	<li>rs3745489</li><li>rs2290772</li><li>rs1062798</li>	2
P37231	5468	<ul><li>P->A at 12: significant independent determinant of CIMT; may protect from early atherosclerosis in subjetc at risk for diabetes; associated with BMI; dbSNP:rs1801282: in dbSNP rsrs1801282,rs1805192<li>P->A at 40: in dbSNP:rs1805192<li>P->Q at 113: in obesity; dbSNP:rs1800571, MIM: 601665<li>Q->P at 314: in colon cancer; sporadic; somatic mutation; loss of ligand-binding; dbSNP:rs28936407, MIM: 601665<li>R->H at 316: in colon cancer; sporadic; somatic mutation; partial loss of ligand-binding; dbSNP:rs28936407, MIM: 601665<li>V->M at 318: in diabetes, MIM: 601665<li>F->L at 388: in FPLD3, MIM: 604367<li>R->C at 425: in FPLD3, MIM: 604367<li>P->L at 495: in diabetes, MIM: 604367</ul>			binding	GO:0005488				<li>Obesity [MIM:601665]</li><li>Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]</li>	<li>rs1800571</li><li>rs1801282</li><li>rs1805192</li><li>rs28936407</li>	2
P37268	2222	<ul><li>K->R at 45: influences plasma cholesterol levels; associated with increased total cholesterol and non-high-density lipoprotein cholesterol; dbSNP:rs11549147<li>L->P at 392: in dbSNP:rs1804473</ul>							P81182		<li>rs1804473</li><li>rs11549147</li>	2
P37275	6935	<ul><li>G->R at 90: in dbSNP:rs12217419<li>K->R at 553: in dbSNP:rs35753967</ul>									<li>rs35753967</li><li>rs12217419</li>	2
P37287	5277	<ul><li>R->W at 19: in PNH: in dbSNP rsrs34422225, MIM: 311770<li>D->H at 40: in PNH, MIM: 311770<li>G->A at 48: in PNH, MIM: 311770<li>G->D at 48: in PNH, MIM: 311770<li>G->V at 48: in PNH, MIM: 311770<li>H->R at 128: in PNH, MIM: 311770<li>S->F at 155: in PNH, MIM: 311770<li>G->R at 239: in PNH, MIM: 311770<li>N->D at 297: in PNH, MIM: 311770</ul>								Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	rs34422225	2
P37288	552	<ul><li>G->S at 6: in dbSNP:rs2228154</ul>									rs2228154	2
P37802	8407	<ul><li>L->Q at 69: in dbSNP:rs17849636</ul>									rs17849636	2
P37837	6888	<ul><li>Missing  at 171: in TALDO1 deficiency</ul>							<li>Q8VI73</li><li>P37837</li><li>Q2TBL6</li><li>Q29593</li>			2
P37840	6622	<ul><li>A->P at 30: in PARK1, MIM: 168601<li>E->K at 46: in PARK1 and DLB; significant increase in binding to negatively charged phospholipid liposomes, MIM: 127750<li>A->T at 53: in PARK1; no effect on osmotic stress-induced phosphorylation, MIM: 168601</ul>	phosphorylation	GO:0016310	binding	GO:0005488				<li>Lewy body dementia (DLB) [MIM:127750]</li><li>Autosomal dominant Parkinson disease 1 (PARK1) [MIM:168601, 168600]</li>		2
P38117	2109	<ul><li>D->N at 128: in GA2B, MIM: 231680<li>T->M at 154: in dbSNP:rs1130426, MIM: 231680<li>R->Q at 164: in GA2B, MIM: 231680</ul>								Glutaric aciduria type 2B (GA2B) [MIM:231680]	rs1130426	2
P38398	672	<ul><li>E->K at 10: in BC and BOC, MIM: 113705<li>V->A at 11: unclassified, MIM: 113705<li>I->V at 21: unclassified, MIM: 113705<li>L->S at 22: in BC, MIM: 113705<li>E->K at 23: in BC and BOC, MIM: 113705<li>L->F at 30: in a breast cancer sample; somatic mutation, MIM: 113705<li>C->G at 61: in BC and ovarian cancer; no interaction with BAP1: in dbSNP rsrs28897672, MIM: 113705<li>C->G at 64: in BC; no interaction with BAP1, MIM: 113705<li>C->Y at 64: unclassified: in dbSNP rsrs55851803, MIM: 113705<li>R->K at 71: in BC; unknown pathological significance, MIM: 113705<li>S->R at 153: in dbSNP:rs28897674, MIM: 113705<li>E->K at 227: in ovarian cancer; could be a polymorphism, MIM: 113705<li>H->R at 239, MIM: 113705<li>V->M at 271: in BC, MIM: 113705<li>G->S at 275: in dbSNP:rs8176153, MIM: 113705<li>P->S at 346: in BC; could be a polymorphism, MIM: 113705<li>Q->R at 356: common polymorphism; dbSNP:rs1799950, MIM: 113705<li>Missing  at 369: in BC, MIM: 113705<li>I->M at 379: unclassified: in dbSNP rsrs56128296, MIM: 113705<li>F->L at 461: in BC: in dbSNP rsrs56046357, MIM: 113705<li>Y->D at 465: in BC, MIM: 113705<li>R->I at 507: unclassified, MIM: 113705<li>G->V at 552: in BC, MIM: 113705<li>N->I at 656, MIM: 113705<li>D->N at 693: rare polymorphism; dbSNP:rs4986850, MIM: 113705<li>N->D at 723: in dbSNP:rs4986845, MIM: 113705<li>D->Y at 749: in BC, MIM: 113705<li>L->F at 758: in a breast cancer sample; somatic mutation, MIM: 113705<li>V->A at 772: rare polymorphism, MIM: 113705<li>G->C at 778: in a breast cancer sample; somatic mutation, MIM: 113705<li>K->E at 820: rare polymorphism: in dbSNP rsrs56082113, MIM: 113705<li>T->K at 826: in BC: in dbSNP rsrs28897683, MIM: 113705<li>H->Y at 835: in BOC; unknown pathological significance, MIM: 113705<li>R->W at 841: in BOC; could be a rare polymorphism; dbSNP:rs1800709, MIM: 113705<li>Y->H at 856: in a patient with sporadic breast cancer; unknown pathological significance, MIM: 113705<li>R->Q at 866: in BC; unknown pathological significance, MIM: 113705<li>P->L at 871: common polymorphism; dbSNP:rs799917, MIM: 113705<li>H->Y at 888: in BC; unknown pathological significance, MIM: 113705<li>L->S at 892: in BC, MIM: 113705<li>I->L at 925: in dbSNP:rs4986847, MIM: 113705<li>G->D at 960: in BC, MIM: 113705<li>F->S at 989: in dbSNP:rs4986848, MIM: 113705<li>M->I at 1008: common polymorphism; dbSNP:rs1800704, MIM: 113705<li>T->I at 1025: in BC, MIM: 113705<li>E->G at 1038: common polymorphism; dbSNP:rs16941, MIM: 113705<li>S->N at 1040: rare polymorphism; dbSNP:rs4986852, MIM: 113705<li>V->A at 1047: in BC, MIM: 113705<li>E->A at 1060, MIM: 113705<li>S->I at 1139: in BC; unknown pathological significance, MIM: 113705<li>S->G at 1140: in dbSNP:rs2227945, MIM: 113705<li>P->S at 1150: in BC, MIM: 113705<li>K->R at 1183: common polymorphism; dbSNP:rs16942, MIM: 113705<li>S->I at 1187: in BC and BOC, MIM: 113705<li>Q->H at 1200: in BC and BOC: in dbSNP rsrs56214134, MIM: 113705<li>R->I at 1204: in BC, MIM: 113705<li>K->N at 1207: in BC, MIM: 113705<li>E->G at 1210: in BC; unknown pathological significance, MIM: 113705<li>S->Y at 1217: in BC and BOC, MIM: 113705<li>E->D at 1219: unclassified, MIM: 113705<li>F->L at 1226: in BOC, MIM: 113705<li>N->K at 1236: in dbSNP:rs28897687, MIM: 113705<li>R->G at 1243: in BOC, MIM: 113705<li>E->K at 1250: in dbSNP:rs28897686, MIM: 113705<li>S->P at 1297: in BC; unknown pathological significance, MIM: 113705<li>R->G at 1347: in dbSNP rsrs28897689, MIM: 113705<li>K->N at 1406: polymorphism; dbSNP:rs1800707, MIM: 113705<li>M->T at 1411: in ovarian cancer; unknown pathological significance, MIM: 113705<li>S->P at 1431, MIM: 113705<li>R->G at 1443: rare polymorphism, MIM: 113705<li>R->Q at 1443: in dbSNP:rs4986849, MIM: 113705<li>S->I at 1512: in dbSNP:rs1800744, MIM: 113705<li>T->I at 1561: unclassified: in dbSNP rsrs56158747, MIM: 113705<li>K->E at 1606: unclassified, MIM: 113705<li>S->G at 1613: common polymorphism; dbSNP:rs1799966, MIM: 113705<li>T->A at 1620: in dbSNP:rs8176219, MIM: 113705<li>M->T at 1628: in some patients with sporadic breast cancer; unknown pathological significance; dbSNP:rs4986854, MIM: 113705<li>M->V at 1628: unclassified, MIM: 113705<li>P->L at 1637: rare polymorphism, MIM: 113705<li>A->P at 1641: in ovarian cancer; could be a polymorphism; dbSNP:rs1800726, MIM: 113705<li>M->I at 1652: rare polymorphism; dbSNP:rs1799967, MIM: 113705<li>F->C at 1662: in dbSNP:rs28897695, MIM: 113705<li>V->M at 1665, MIM: 113705<li>K->Q at 1690: in some patients with sporadic breast cancer; unknown pathological significance, MIM: 113705<li>D->N at 1692: in ovarian cancer; could be a polymorphism, MIM: 113705<li>C->R at 1697: in ovarian cancer, MIM: 113705<li>R->W at 1699: in ovarian cancer: in dbSNP rsrs55770810, MIM: 113705<li>A->E at 1708: in BC; abolishes ACACA binding: in dbSNP rsrs28897696, MIM: 113705<li>V->G at 1713, MIM: 113705<li>P->R at 1749: in ovarian cancer; could be a polymorphism; abolishes ACACA binding and reduces BRIP1 binding, MIM: 113705<li>M->R at 1775: in BC; abolishes ACACA and BRIP1 binding: in dbSNP rsrs41293463, MIM: 113705<li>P->S at 1776: in ovarian cancer; could be a polymorphism; dbSNP:rs1800757, MIM: 113705<li>L->P at 1786: in BOC; unknown pathological significance, MIM: 113705<li>P->S at 1812: in ovarian cancer; could be a polymorphism; dbSNP:rs1800751, MIM: 113705</ul>			binding	GO:0005488			<li>Q28559</li><li>Q13085</li><li>Q9BWV1</li><li>Q9BX63</li><li>Q00947</li><li>Q9TTS3</li><li>Q96QZ7</li><li>P23196</li><li>Q3YK19</li><li>Q9P0J6</li><li>Q99496</li><li>Q92560</li>	<li>Breast cancer (BC) [MIM:113705, 114480]</li><li>Ovarian cancer [MIM:113705]</li><li>Breast-ovarian cancer (BOC) [MIM:113705]</li>	<li>rs1799967</li><li>rs1799966</li><li>rs28897672</li><li>rs28897696</li><li>rs1800757</li><li>rs799917</li><li>rs16941</li><li>rs28897695</li><li>rs16942</li><li>rs28897674</li><li>rs56158747</li><li>rs4986845</li><li>rs4986847</li><li>rs2227945</li><li>rs56082113</li><li>rs1800751</li><li>rs4986848</li><li>rs4986849</li><li>rs55851803</li><li>rs56128296</li><li>rs28897689</li><li>rs1800707</li><li>rs8176153</li><li>rs1800704</li><li>rs1800726</li><li>rs56046357</li><li>rs28897683</li><li>rs8176219</li><li>rs4986850</li><li>rs28897686</li><li>rs1800709</li><li>rs28897687</li><li>rs55770810</li><li>rs41293463</li><li>rs4986854</li><li>rs1800744</li><li>rs4986852</li><li>rs1799950</li><li>rs56214134</li>	2
P38435	2677	<ul><li>F->S at 299: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842<li>R->Q at 325: in dbSNP:rs699664, MIM: 610842<li>L->R at 394: in VKCFD1; affects glutamate binding, MIM: 277450<li>R->C at 476: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842<li>R->H at 476: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842<li>R->P at 485: in VKCFD1, MIM: 277450<li>W->S at 493: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842<li>W->S at 501: in VKCFD1; dbSNP:rs28928872, MIM: 277450<li>G->R at 558: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842</ul>	coagulation	GO:0050817	glutamate binding	GO:0016595				<li>PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]</li><li>Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]</li>	<li>rs699664</li><li>rs28928872</li>	2
P38484	3460	<ul><li>T->R at 58: in dbSNP:rs4986958<li>Q->R at 64: in dbSNP:rs9808753<li>E->K at 147: in dbSNP:rs17878639<li>T->N at 168: in MSMD; does not affect receptor trafficking to the cell surface; loss of function due to gain of N-glycosylation, MIM: 209950<li>K->E at 182: in dbSNP:rs17878711, MIM: 209950<li>Missing  at 222-230: in MSMD; affects receptor trafficking to the cell surface, MIM: 209950</ul>					cell surface	GO:0009928,GO:0009986		Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	<li>rs9808753</li><li>rs4986958</li><li>rs17878711</li><li>rs17878639</li>	2
P38567	6677	<ul><li>V->A at 47: in dbSNP:rs34633019</ul>									rs34633019	2
P38570	3682	<ul><li>D->E at 360<li>I->V at 477: in dbSNP:rs220479<li>R->Q at 482: in dbSNP:rs2272606<li>Q->H at 892: in dbSNP:rs3744679<li>R->W at 950: in dbSNP:rs1716<li>V->A at 1019: in dbSNP:rs2976230<li>C->S at 1041</ul>									<li>rs1716</li><li>rs3744679</li><li>rs220479</li><li>rs2272606</li><li>rs2976230</li>	2
P38571	3988	<ul><li>T->P at 16: in dbSNP:rs1051338<li>G->R at 23: in dbSNP:rs1051339<li>V->L at 29: in dbSNP:rs17850891<li>H->P at 129: in CESD, MIM: 278000<li>H->R at 129: in CESD, MIM: 278000<li>L->P at 200: in CESD and WOD, MIM: 278000<li>F->S at 228: in dbSNP:rs2228159, MIM: 278000</ul>								<li>Wolman disease (WOD) [MIM:278000]</li><li>Cholesteryl ester storage disease (CESD) [MIM:278000]</li>	<li>rs17850891</li><li>rs2228159</li><li>rs1051338</li><li>rs1051339</li>	2
P38646	3313	<ul><li>Q->R at 74: in dbSNP:rs17856004<li>R->G at 127: in dbSNP:rs35091799<li>H->Y at 184<li>A->G at 225: in dbSNP:rs34558740</ul>									<li>rs35091799</li><li>rs34558740</li><li>rs17856004</li>	2
P38935		<ul><li>A->T at 75: in dbSNP:rs2228206<li>L->P at 192: in HMN6, MIM: 604320<li>S->L at 201: in dbSNP:rs560096, MIM: 604320<li>H->R at 213: in HMN6, MIM: 604320<li>T->A at 221: in HMN6, MIM: 604320<li>C->R at 241: in HMN6, MIM: 604320<li>I->V at 275: in dbSNP:rs10896380, MIM: 604320<li>E->K at 334: in HMN6, MIM: 604320<li>L->P at 361: in HMN6, MIM: 604320<li>L->P at 364: in HMN6, MIM: 604320<li>E->K at 382: in HMN6, MIM: 604320<li>L->P at 426: in HMN6, MIM: 604320<li>E->K at 514: in HMN6, MIM: 604320<li>P->A at 557: in dbSNP:rs7122089, MIM: 604320<li>D->N at 565: in HMN6, MIM: 604320<li>Missing  at 572: in HMN6, MIM: 604320<li>L->P at 577: in HMN6, MIM: 604320<li>V->I at 580: in HMN6, MIM: 604320<li>N->I at 583: in HMN6, MIM: 604320<li>G->C at 586: in HMN6, MIM: 604320<li>R->H at 603: in HMN6, MIM: 604320<li>R->C at 637: in HMN6, MIM: 604320<li>T->A at 671: in dbSNP:rs622082, MIM: 604320<li>R->W at 694: in dbSNP:rs2236654, MIM: 604320<li>T->K at 879: in HMN6; dbSNP:rs17612126, MIM: 604320<li>E->K at 928: in dbSNP:rs2275996, MIM: 604320<li>D->E at 974: in HMN6, MIM: 604320</ul>								Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	<li>rs2275996</li><li>rs7122089</li><li>rs10896380</li><li>rs2236654</li><li>rs622082</li><li>rs560096</li><li>rs2228206</li>	2
P38936	1026	<ul><li>P->L at 4: in dbSNP:rs4986866<li>S->R at 31: in dbSNP:rs1801270<li>F->L at 63: in dbSNP:rs4986867<li>D->G at 149: in dbSNP:rs1801724</ul>									<li>rs4986866</li><li>rs4986867</li><li>rs1801270</li><li>rs1801724</li>	2
P39019	6223	<ul><li>V->F at 15: in DBA, MIM: 105650<li>A->P at 17: in DBA, MIM: 105650<li>L->P at 18: in DBA, MIM: 105650<li>L->R at 18: in DBA, MIM: 105650<li>P->L at 47: in DBA, MIM: 105650<li>W->R at 52: in DBA, MIM: 105650<li>T->M at 55: in DBA, MIM: 105650<li>R->Q at 56: in DBA, MIM: 105650<li>Missing  at 58-60: in DBA, MIM: 105650<li>S->F at 59: in DBA, MIM: 105650<li>A->E at 61: in DBA, MIM: 105650<li>R->Q at 62: in DBA, MIM: 105650<li>R->W at 62: in DBA, MIM: 105650<li>R->H at 101: in DBA, MIM: 105650<li>G->R at 120: in DBA, MIM: 105650<li>L->P at 131: in DBA, MIM: 105650<li>L->R at 131: in DBA, MIM: 105650</ul>								Diamond-Blackfan anemia (DBA) [MIM:105650]		2
P39023	6122	<ul><li>I->T at 78: in dbSNP:rs11548004</ul>									rs11548004	2
P39059	1306	<ul><li>R->H at 163: in dbSNP:rs2075662<li>M->V at 204: in dbSNP:rs2075663<li>T->M at 391: in dbSNP:rs10988532<li>A->T at 442: in dbSNP:rs16918128<li>G->R at 446: in dbSNP:rs35934703<li>G->V at 504: in dbSNP:rs2297603<li>E->D at 506: in dbSNP:rs35250850<li>P->R at 531: in dbSNP:rs35529307<li>K->R at 989: in dbSNP:rs35642150<li>K->R at 1001: in dbSNP:rs35544077<li>V->I at 1332: in dbSNP:rs10519</ul>									<li>rs35642150</li><li>rs35934703</li><li>rs16918128</li><li>rs10519</li><li>rs35544077</li><li>rs2075663</li><li>rs35529307</li><li>rs10988532</li><li>rs2075662</li><li>rs35250850</li><li>rs2297603</li>	2
P39060	80781	<ul><li>Q->L at 49<li>G->R at 111<li>V->I at 1076<li>P->R at 1121<li>D->N at 1675: decreased activity for binding laminin; increased risk of developing prostate cancer; in compound heterozygotes may cause Knobloch syndrome when in combination with a frameshift/truncating mutation</ul>			binding	GO:0005488						2
P39086	2897	<ul><li>A->V at 332<li>Q->R at 636: in RNA edited version<li>I->V at 757: in dbSNP:rs363494<li>R->Q at 862<li>A->V at 870: in dbSNP:rs363503<li>L->S at 902: in dbSNP:rs363504</ul>									<li>rs363494</li><li>rs363503</li><li>rs363504</li>	2
P39210	4358	<ul><li>R->Q at 50: in MDS and NN; may cause protein instability and decay, MIM: 256810<li>R->W at 50: in MDS, MIM: 251880<li>N->K at 166: in MDS, MIM: 251880</ul>								<li>Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]</li><li>Navajo neurohepatopathy (NN) [MIM:256810]</li>		2
P39656	1650	<ul><li>R->G at 8: in dbSNP:rs537816</ul>									rs537816	2
P39900	4321	<ul><li>N->S at 357: in dbSNP:rs652438<li>G->R at 469</ul>									rs652438	2
P39905	2668	<ul><li>P->S at 21: in HSCR; could be a polymorphism, MIM: 142623<li>R->W at 93: in HSCR and CCHS; associated to a RET mutation; could be an extremely rare polymorphism: in dbSNP rsrs36119840, MIM: 142623<li>D->N at 150: in HSCR; could be a polymorphism, MIM: 142623<li>T->S at 154: in HSCR; sporadic form, MIM: 142623<li>I->M at 211: in HSCR, MIM: 142623</ul>							P07949	<li>Congenital central hypoventilation syndrome (CCHS) [MIM:209880]</li><li>Hirschsprung disease (HSCR) [MIM:142623]</li>	rs36119840	2
P40121		<ul><li>V->I at 41: in dbSNP:rs2229668<li>R->W at 198: in dbSNP:rs11539103<li>R->H at 335: in dbSNP:rs6886</ul>									<li>rs11539103</li><li>rs6886</li><li>rs2229668</li>	2
P40123	10486	<ul><li>T->A at 311: in dbSNP:rs34620829<li>Y->C at 316: in dbSNP:rs34206659</ul>									<li>rs34206659</li><li>rs34620829</li>	2
P40145	114	<ul><li>A->T at 80: in dbSNP:rs2228949<li>F->L at 881: in a colorectal cancer sample; somatic mutation</ul>									rs2228949	2
P40189	3572	<ul><li>L->V at 8: in dbSNP:rs1063560<li>G->R at 148: in dbSNP:rs2228044<li>L->V at 397: in dbSNP:rs2228043<li>T->I at 415: in a colorectal cancer sample; somatic mutation<li>I->T at 454: in dbSNP:rs2228046<li>V->I at 499: in dbSNP:rs34417936</ul>									<li>rs1063560</li><li>rs2228046</li><li>rs2228043</li><li>rs2228044</li><li>rs34417936</li>	2
P40198	1084	<ul><li>S->P at 7: in dbSNP:rs1041999</ul>									rs1041999	2
P40199		<ul><li>V->G at 239: in dbSNP:rs11548735</ul>									rs11548735	2
P40200	10225	<ul><li>A->P at 142: in dbSNP:rs2276872<li>T->M at 280: in C-like syndrome, MIM: 605039</ul>								C-like syndrome [MIM:605039]	rs2276872	2
P40225	7066	<ul><li>L->P at 14: in dbSNP:rs1042346<li>G->E at 116: in dbSNP:rs1126665</ul>									<li>rs1042346</li><li>rs1126665</li>	2
P40227	908	<ul><li>Y->C at 229: in dbSNP:rs33922584</ul>									rs33922584	2
P40238	4352	<ul><li>K->N at 39: in dbSNP:rs17292650<li>A->V at 58: in dbSNP:rs6087<li>V->M at 114: in dbSNP:rs12731981<li>E->K at 168: in dbSNP:rs6088</ul>									<li>rs12731981</li><li>rs17292650</li><li>rs6087</li><li>rs6088</li>	2
P40305	3429	<ul><li>S->F at 106: in dbSNP:rs2227974</ul>									rs2227974	2
P40313	1506	<ul><li>T->I at 150: in dbSNP:rs11552953<li>H->R at 173: in dbSNP:rs1134760</ul>									<li>rs11552953</li><li>rs1134760</li>	2
P40337	7428	<ul><li>P->L at 25: in pheochromocytoma; dbSNP:rs35460768, MIM: 171300<li>S->P at 38: in VHLD; type II, MIM: 193300<li>E->K at 52: in VHLD; type I, MIM: 193300<li>L->P at 63: in pheochromocytoma, MIM: 171300<li>R->P at 64: in pheochromocytoma, MIM: 171300<li>S->A at 65: in pheochromocytoma, MIM: 171300<li>S->L at 65: in VHLD; type I, MIM: 193300<li>S->W at 65: in VHLD; type I, MIM: 193300<li>Missing  at 66-73: in VHLD; type I, MIM: 193300<li>S->W at 68: in pheochromocytoma and VHLD; type II, MIM: 193300<li>E->K at 70: in VHLD; type I, MIM: 193300<li>V->G at 74: in VHLD; type I-II; dbSNP:rs5030803, MIM: 193300<li>Missing  at 75: in VHLD, MIM: 193300<li>F->I at 76: in VHLD; type I, MIM: 193300<li>F->L at 76: in VHLD; type I, MIM: 193300<li>F->S at 76: in VHLD; type I, MIM: 193300<li>Missing  at 76: in VHLD; type I; common mutation, MIM: 193300<li>N->H at 78: in VHLD; type I, MIM: 193300<li>N->S at 78: in VHLD; type I; common mutation; dbSNP:rs5030804, MIM: 193300<li>N->T at 78: in VHLD; type I, MIM: 193300<li>R->P at 79: in VHLD, MIM: 193300<li>S->I at 80: in VHLD; type I: in dbSNP rsrs5030805, MIM: 193300<li>S->N at 80: in pheochromocytoma and VHLD; type I; dbSNP:rs5030805, MIM: 193300<li>S->R at 80: in VHLD; type I, MIM: 193300<li>P->S at 81: in VHLD; type I; dbSNP:rs5030806, MIM: 193300<li>Missing  at 82-84: in VHLD, MIM: 193300<li>R->P at 82: in VHLD; type I, MIM: 193300<li>V->L at 84: in VHLD; type II and type 2C; dbSNP:rs5030827, MIM: 193300<li>P->A at 86: in VHLD; type I, MIM: 193300<li>P->H at 86: in VHLD, MIM: 193300<li>P->L at 86: in VHLD; type I, MIM: 193300<li>P->R at 86: in VHLD; type I, MIM: 193300<li>P->S at 86: in VHLD, MIM: 193300<li>W->R at 88: in VHLD; type I, MIM: 193300<li>W->S at 88: in VHLD; type I, MIM: 193300<li>L->H at 89: in lung cancer, MIM: 193300<li>L->P at 89: in VHLD; type I; dbSNP:rs5030807, MIM: 193300<li>F->L at 91: in cerebellar hemangioblastoma, MIM: 193300<li>Missing  at 92-97: in VHLD; type I, MIM: 193300<li>G->C at 93: in pheochromocytoma and VHLD; type II; dbSNP:rs5030808, MIM: 193300<li>G->D at 93: in VHLD, MIM: 193300<li>G->S at 93: in pheochromocytoma and VHLD; type II; dbSNP:rs5030808, MIM: 193300<li>Q->P at 96: in VHLD; type I, MIM: 193300<li>Y->H at 98: in pheochromocytoma and VHLD; type II; dbSNP:rs5030809, MIM: 193300<li>L->G at 101: in VHLD; type I; requires 2 nucleotide substitutions, MIM: 193300<li>L->R at 101: in VHLD; type I, MIM: 193300<li>G->A at 104: in cerebellar hemangioblastoma, MIM: 193300<li>T->P at 105: in VHLD; type I, MIM: 193300<li>G->D at 106: in lung cancer, MIM: 193300<li>R->G at 107: in pheochromocytoma, MIM: 171300<li>R->P at 107: in VHLD; type I, MIM: 193300<li>H->Y at 110: in dbSNP:rs17855706, MIM: 193300<li>S->C at 111: in VHLD; type II, MIM: 193300<li>S->N at 111: in VHLD; type I, MIM: 193300<li>S->R at 111: in VHLD; type I, MIM: 193300<li>Y->H at 112: in VHLD; type IIA, MIM: 193300<li>Y->N at 112: in VHLD, MIM: 193300<li>G->C at 114: in VHLD; type II, MIM: 193300<li>G->R at 114: in VHLD; type I-II, MIM: 193300<li>G->S at 114: in VHLD; type II, MIM: 193300<li>H->Q at 115: in VHLD; type II, MIM: 193300<li>H->R at 115: in VHLD; type II: in dbSNP rsrs5030812, MIM: 193300<li>H->Y at 115: in VHLD; type I; dbSNP:rs5030811, MIM: 193300<li>L->V at 116: in VHLD, MIM: 193300<li>W->C at 117: in VHLD; type I, MIM: 193300<li>L->P at 118: in VHLD; type I; dbSNP:rs5030830, MIM: 193300<li>L->R at 118: in VHLD, MIM: 193300<li>F->L at 119: in pheochromocytoma and VHLD; type II, MIM: 193300<li>F->S at 119: in VHLD; type II, MIM: 193300<li>D->G at 121: in VHLD; type I; dbSNP:rs5030832, MIM: 193300<li>A->I at 122: in pheochromocytoma; requires 2 nucleotide substitutions, MIM: 171300<li>D->Y at 126: in ECYT2, MIM: 263400<li>L->F at 128: in VHLD; type II, MIM: 193300<li>L->LE at 129: in VHLD, MIM: 193300<li>V->L at 130: in ECYT2 and VHLD; type I, MIM: 193300<li>N->K at 131: in VHLD; type I, MIM: 193300<li>N->T at 131: in VHLD; type I, MIM: 193300<li>L->F at 135: in hemangioblastoma, MIM: 193300<li>F->C at 136: in pheochromocytoma and VHLD; type II: in dbSNP rsrs5030833, MIM: 193300<li>F->S at 136: in VHLD, MIM: 193300<li>F->Y at 136: in VHLD, MIM: 193300<li>D->E at 143: in VHLD; type II, MIM: 193300<li>Q->H at 145: in VHLD, MIM: 193300<li>I->T at 147: in pheochromocytoma, MIM: 171300<li>Missing  at 148: in VHLD; type I, MIM: 171300<li>A->T at 149: in VHLD; type II, MIM: 193300<li>P->L at 154: in VHLD; type II, MIM: 193300<li>V->G at 155: in VHLD; type II, MIM: 193300<li>V->M at 155: in VHLD; with RCC, MIM: 193300<li>Y->C at 156: in pheochromocytoma and VHLD; type I, MIM: 193300<li>Y->D at 156: in VHLD; type I, MIM: 193300<li>Y->N at 156: in pheochromocytoma, MIM: 171300<li>T->I at 157: in VHLD; type II, MIM: 193300<li>T->TF at 157: in VHLD; type I, MIM: 193300<li>L->P at 158: in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex, MIM: 193300<li>L->V at 158: in VHLD; type I, MIM: 193300<li>K->E at 159: in VHLD; type II, MIM: 193300<li>R->G at 161: in VHLD; type II: in dbSNP rsrs5030818, MIM: 193300<li>R->P at 161: in pheochromocytoma and VHLD; type I, MIM: 193300<li>R->Q at 161: in pheochromocytoma and VHLD; type II, MIM: 193300<li>C->F at 162: in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation, MIM: 193300<li>C->R at 162: in VHLD; type I, MIM: 193300<li>C->W at 162: in VHLD; type I-II; dbSNP:rs5030622, MIM: 193300<li>C->Y at 162: in VHLD; type I, MIM: 193300<li>L->P at 163: in RCC1; with paraneoplastic erythrocytosis; inhibits binding to HIF1AN: in dbSNP rsrs28940297, MIM: 144700<li>Q->H at 164: in VHLD, MIM: 193300<li>Q->R at 164: in VHLD; type II, MIM: 193300<li>V->D at 166: in VHLD; with RCC, MIM: 193300<li>V->F at 166: in VHLD; type IIA, MIM: 193300<li>R->G at 167: in VHLD; type I-II, MIM: 193300<li>R->Q at 167: in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821, MIM: 193300<li>R->W at 167: in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820, MIM: 193300<li>V->D at 170: in VHLD; type II, MIM: 193300<li>V->F at 170: in VHLD; type II, MIM: 193300<li>V->G at 170: in VHLD; type I, MIM: 193300<li>Y->D at 175: in VHLD; type I, MIM: 193300<li>R->W at 176: in VHLD, MIM: 193300<li>R->RLRVKPE at 177: in VHLD; type I, MIM: 193300<li>L->P at 178: in VHLD; type I-II; common mutation, MIM: 193300<li>L->Q at 178: in VHLD; type II; dbSNP:rs5030822, MIM: 193300<li>I->V at 180: in VHLD; type I, MIM: 193300<li>L->P at 184: in VHLD; type I, MIM: 193300<li>L->R at 184: in VHLD; type I, MIM: 193300<li>E->K at 186: in VHLD; type I, MIM: 193300<li>Missing  at 186: in VHLD, MIM: 193300<li>L->P at 188: in VHLD; type I-II, MIM: 193300<li>L->Q at 188: in VHLD; type I, MIM: 193300<li>L->V at 188: in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824, MIM: 193300<li>H->D at 191: in ECYT2; dbSNP:rs28940301, MIM: 263400<li>P->S at 192: in ECYT2; dbSNP:rs28940300, MIM: 263400<li>L->Q at 198: in pheochromocytoma, MIM: 171300<li>L->R at 198: in ECY2 and VHLD; type II, MIM: 193300<li>R->W at 200: in ECYT2 and VHLD; type I; dbSNP:rs28940298, MIM: 193300</ul>			binding	GO:0005488			<li>Q98SW2</li><li>Q0PGG7</li><li>Q309Z6</li><li>Q9YIB9</li><li>Q9NWT6</li><li>P18754</li><li>Q16665</li><li>P23800</li><li>Q9XTA5</li><li>P52499</li>	<li>Renal cell carcinoma type 1 (RCC1) [MIM:144700]</li><li>Erythrocytosis familial type 2 (ECYT2) [MIM:263400]</li><li>Von Hippel-Lindau disease (VHLD) [MIM:193300]</li><li>Pheochromocytoma [MIM:171300]</li>	<li>rs5030822</li><li>rs5030821</li><li>rs35460768</li><li>rs5030830</li><li>rs5030820</li><li>rs5030833</li><li>rs17855706</li><li>rs5030832</li><li>rs28940298</li><li>rs28940297</li><li>rs5030811</li><li>rs5030622</li><li>rs28940300</li><li>rs28940301</li><li>rs5030809</li><li>rs5030818</li><li>rs5030827</li><li>rs5030803</li><li>rs5030804</li><li>rs5030805</li><li>rs5030824</li><li>rs5030807</li><li>rs5030812</li><li>rs5030808</li>	2
P40394		<ul><li>G->A at 80: in dbSNP:rs1573496</ul>									rs1573496	2
P40617	10124	<ul><li>R->K at 139: in dbSNP:rs2953325</ul>									rs2953325	2
P40692	4292	<ul><li>R->C at 18: in HNPCC2, MIM: 609310<li>I->F at 19: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>A->V at 21: in HNPCC2, MIM: 609310<li>G->A at 22: in dbSNP:rs41295280, MIM: 609310<li>I->F at 25: in HNPCC2, MIM: 609310<li>P->L at 28: in HNPCC2, MIM: 609310<li>A->S at 29: in HNPCC2; could be a polymorphism; has no effect on ex vivo splicing assay, MIM: 609310<li>I->V at 32: in dbSNP:rs2020872, MIM: 609310<li>M->K at 35: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>M->N at 35: in MMRCS; requires 2 nucleotide substitutions, MIM: 609310<li>M->R at 35: in HNPCC2, MIM: 609310<li>E->ELNH at 37: in endometrial cancer; somatic mutation, MIM: 609310<li>N->H at 38: in HNPCC2, MIM: 609310<li>D->G at 41: in HNPCC2, MIM: 609310<li>D->H at 41: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>S->F at 44: in HNPCC2; the equivalent substitution in yeast causes loss of function in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310<li>TSI->CF at 45-47: in HNPCC2, MIM: 609310<li>G->E at 54: in CRC; sporadic; somatic mutation, MIM: 609310<li>Q->K at 62: in HNPCC2; reduced repair efficiency in a yeast mismatch repair assay, MIM: 609310<li>D->E at 63: in HNPCC2, MIM: 609310<li>N->S at 64: in HNPCC2, MIM: 609310<li>G->E at 67: in CRC, MIM: 609310<li>G->R at 67: in HNPCC2; the equivalent substitution in yeast causes loss of function in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310<li>G->W at 67: in HNPCC2, MIM: 609310<li>I->N at 68: in HNPCC2; the equivalent substitution in yeast causes loss of function in a mismatch repair assay, MIM: 609310<li>R->K at 69: in HNPCC2; reduced repair efficiency in a mismatch repair assay, MIM: 609310<li>Missing  at 71: in HNPCC2, MIM: 609310<li>C->R at 77: in HNPCC2 and CRC; sporadic; normal interaction with PMS2; loss of function in a mismatch repair assay, MIM: 609310<li>C->Y at 77: in CRC; sporadic; early onset, MIM: 609310<li>F->V at 80: in HNPCC2, MIM: 609310<li>K->E at 84: in HNPCC2, MIM: 609310<li>S->G at 93: common polymorphism; normal interaction with PMS2; no functional alteration detected by an in vitro mismatch repair assay; dbSNP:rs41295282, MIM: 609310<li>G->S at 98: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>G->D at 101: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>G->S at 101: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>E->K at 102: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>S->R at 106: in gastric cancer; uncertain pathogenicity, MIM: 609310<li>I->R at 107: in HNPCC2; normal interaction with PMS2; loss of function in a mismatch repair assay, MIM: 609310<li>H->Q at 109: in gastric cancer; uncertain pathogenicity, MIM: 609310<li>A->V at 111: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>T->K at 116: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>T->M at 117: in HNPCC2; fails to interact with PMS2 and EXO1; loss of function in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310<li>T->R at 117: in HNPCC2; equivalent substitution in yeast causes loss of function in mismatch repair assay, MIM: 609310<li>Y->N at 126: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>A->P at 128: in HNPCC2, MIM: 609310<li>D->H at 132: in CRC; sporadic; susceptibility to; ATPase function attenuated but not eliminated: in dbSNP rsrs28930073, MIM: 609310<li>L->R at 155: in HNPCC2, MIM: 609310<li>R->G at 182: in HNPCC2; incomplete, MIM: 609310<li>R->K at 182: in HNPCC2, MIM: 609310<li>V->G at 185: in HNPCC2; defective in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310<li>V->L at 185: in HNPCC2; could be a polymorphism, MIM: 609310<li>S->P at 193: in HNPCC2, MIM: 609310<li>V->M at 213: associated with HNPCC2; has no effect on ex vivo splicing assay; dbSNP:rs2308317, MIM: 609310<li>N->S at 215: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>I->S at 216: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>R->C at 217: in HNPCC2; could be a polymorphism; proficient in a mismatch repair assay; dbSNP:rs4986984, MIM: 609310<li>R->G at 217, MIM: 609310<li>I->V at 219: common polymorphism; found in 37% of alleles; dbSNP:rs1799977, MIM: 609310<li>Missing  at 226-295: in HNPCC2, MIM: 609310<li>R->L at 226: in HNPCC2, MIM: 609310<li>E->G at 234: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>G->D at 244: in HNPCC2; defective in a mismatch repair assay, MIM: 609310<li>G->V at 244: in CRC; sporadic; somatic mutation; could be a polymorphism, MIM: 609310<li>S->P at 247: in HNPCC2, MIM: 609310<li>L->F at 260: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>L->R at 260: in CRC, MIM: 609310<li>Missing  at 262: in HNPCC2, MIM: 609310<li>H->Y at 264: in HNPCC2, MIM: 609310<li>R->C at 265: associated with HNPCC2; results in partial exon 10 skipping on ex vivo splicing assay, MIM: 609310<li>R->H at 265: rare polymorphism; associated with HNPCC2; slightly lower mismatch repair efficiency; results in partial exon 10 skipping on ex vivo splicing assay, MIM: 609310<li>E->G at 268: in CRC, MIM: 609310<li>A->G at 282: in HNPCC2, MIM: 609310<li>L->P at 292: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>S->T at 295: in HNPCC2, MIM: 609310<li>D->V at 304: in HNPCC2, MIM: 609310<li>P->S at 309, MIM: 609310<li>E->D at 320: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>S->I at 321: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>Missing  at 325-327: in colorectal cancer, MIM: 609310<li>R->Q at 325: in CRC; sporadic; somatic mutation; could be a polymorphism, MIM: 609310<li>V->A at 326: in HNPCC2; proficient in a mismatch repair assay, MIM: 609310<li>H->P at 329: in HNPCC2, MIM: 609310<li>Missing  at 330: in HNPCC2; results in weak exon 11 skipping on ex vivo splicing assay, MIM: 609310<li>N->S at 338: in HNPCC2, MIM: 609310<li>Y->C at 379: in HNPCC2, MIM: 609310<li>V->D at 384: could be a non-fonctional polymorphism associated with HNPCC confined to East Asian population, MIM: 609310<li>R->C at 385: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>R->P at 385: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>S->N at 406: in dbSNP:rs41294980, MIM: 609310<li>A->T at 441: in HNPCC2, MIM: 609310<li>K->Q at 443: in dbSNP:rs34213726, MIM: 609310<li>R->I at 472: in CRC; uncertain pathogenicity, MIM: 609310<li>R->Q at 474: in HNPCC2; has no effect on ex vivo splicing assay; uncertain pathogenicity, MIM: 609310<li>R->W at 474: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>D->E at 485: in HNPCC2, MIM: 609310<li>D->H at 485: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>A->T at 492: in HNPCC2 and CRC; sporadic, MIM: 609310<li>V->A at 506: in HNPCC2, MIM: 609310<li>A->D at 539: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>Q->L at 542: in HNPCC2; type II; equivalent substitution in yeast causes loss of function in a mismatch repair assay, MIM: 609310<li>Q->P at 542: in HNPCC2, MIM: 609310<li>L->P at 549: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>L->P at 550: in HNPCC2, MIM: 609310<li>N->T at 551: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>L->R at 559: in HNPCC2, MIM: 609310<li>I->F at 565: in HNPCC2, MIM: 609310<li>L->P at 574: in HNPCC2; type I; abrogates interaction with EXO1, MIM: 609310<li>E->G at 578: in HNPCC2 and CRC, MIM: 609310<li>L->V at 582: in HNPCC2; type II, MIM: 609310<li>L->R at 585: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>A->P at 586: in HNPCC2, MIM: 609310<li>L->P at 588: in HNPCC2, MIM: 609310<li>A->D at 589: in HNPCC2, MIM: 609310<li>Missing  at 596: in HNPCC2, MIM: 609310<li>D->G at 601: in CRC; uncertain pathogenicity, MIM: 609310<li>P->R at 603: in HNPCC2; suspected; could be a polymorphism; has no effect on ex vivo splicing assay; dbSNP:rs35831931, MIM: 609310<li>L->H at 607: in LCIS and HNPCC2; could be a polymorphism;; has no effect on ex vivo splicing assay; could determine an increased risk of colon cancer; dbSNP:rs41295284, MIM: 609310<li>Missing  at 612: in HNPCC2, MIM: 609310<li>Missing  at 616: in HNPCC2 and Turcot syndrome; abrogates interaction with EXO1; has no effect on ex vivo splicing assay, MIM: 609310<li>K->A at 618: common polymorphism; requires 2 nucleotide substitutions, MIM: 609310<li>K->R at 618: in colorectal cancer, MIM: 609310<li>K->T at 618: in HNPCC2; type II, MIM: 609310<li>Missing  at 618: in HNPCC2, MIM: 609310<li>A->P at 619: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>L->H at 622: in HNPCC2, MIM: 609310<li>A->P at 623: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>FS->ST at 626-627: in HNPCC2, MIM: 609310<li>D->A at 631: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>N->K at 635: in gastric cancer; uncertain pathogenicity, MIM: 609310<li>L->P at 636: in HNPCC2, MIM: 609310<li>P->L at 640: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>P->S at 640: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>Y->C at 646: in HNPCC2; could be a common polymorphism; dbSNP:rs35045067, MIM: 609310<li>P->L at 648: in HNPCC2, MIM: 609310<li>P->S at 648: in HNPCC2; protein unstable but still functional in mismatch repair, MIM: 609310<li>P->L at 654: in HNPCC2, MIM: 609310<li>I->V at 655: in endometrial cancer; also associated with HNPCC2; has no effect on ex vivo splicing assay; dbSNP:rs55907433, MIM: 608089<li>F->S at 656: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 608089<li>Missing  at 657: in HNPCC2; uncertain pathogenicity, MIM: 608089<li>R->L at 659: in HNPCC2, MIM: 609310<li>R->P at 659: in HNPCC2; interacts only very weakly with PMS2; equivalent substitution in yeast causes almost complete loss of function in a mismatch repair assay; abrogates interaction with EXO1, MIM: 609310<li>R->Q at 659, MIM: 609310<li>T->P at 662: in HNPCC2; could be a rare polymorphism, MIM: 609310<li>W->R at 666: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310<li>A->T at 681: in HNPCC2; could be a common polymorphism; equivalent substitution in yeast does not affect mismatch repair; abrogates interaction with EXO1, MIM: 609310<li>R->W at 687: in HNPCC2; uncertain pathogenicity, MIM: 609310<li>Q->R at 689: in HNPCC; suspected; could be a polymorphism, MIM: 609310<li>V->M at 716: in dbSNP:rs35831931, MIM: 609310<li>H->Y at 718: in HNPCC2; could be a polymorphism; dbSNP:rs2020873, MIM: 609310<li>I->INVFHI at 719: in HNPCC2, MIM: 609310<li>L->M at 724: in HNPCC2, MIM: 609310<li>L->V at 729: in dbSNP:rs1800149, MIM: 609310<li>L->P at 749: in colorectal cancer, MIM: 609310<li>K->R at 751: in HNPCC2; could be a polymorphism, MIM: 609310<li>R->W at 755: in HNPCC; incomplete, MIM: 609310</ul>	mismatch repair	GO:0006298					<li>P38920</li><li>Q8L925</li><li>P39875</li><li>P54278</li><li>Q9UQ84</li><li>Q02216</li><li>P16960</li>	<li>Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]</li><li>Endometrial cancer [MIM:608089]</li>	<li>rs35831931</li><li>rs1799977</li><li>rs41294980</li><li>rs4986984</li><li>rs28930073</li><li>rs2020872</li><li>rs2020873</li><li>rs41295284</li><li>rs41295282</li><li>rs35045067</li><li>rs1800149</li><li>rs41295280</li><li>rs2308317</li><li>rs55907433</li><li>rs34213726</li>	2
P40763	6774	<ul><li>Q->K at 32: in dbSNP:rs1803125<li>M->I at 143: in dbSNP:rs17878478<li>R->L at 382: in AD-HIES, MIM: 147060<li>R->Q at 382: in AD-HIES; loss of function, MIM: 147060<li>R->W at 382: in AD-HIES; loss of function, MIM: 147060<li>F->L at 384: in AD-HIES, MIM: 147060<li>F->S at 384: in AD-HIES, MIM: 147060<li>T->I at 389: in AD-HIES; loss of function, MIM: 147060<li>R->Q at 423: in AD-HIES, MIM: 147060<li>H->Y at 437: in AD-HIES; loss of function, MIM: 147060<li>Missing  at 463: in AD-HIES; loss of function, MIM: 147060<li>F->Y at 561: in dbSNP:rs1064116, MIM: 147060<li>S->N at 611: in AD-HIES, MIM: 147060<li>F->V at 621: in AD-HIES, MIM: 147060<li>T->I at 622: in AD-HIES, MIM: 147060<li>V->L at 637: in AD-HIES, MIM: 147060<li>V->M at 637: in AD-HIES, MIM: 147060<li>Missing  at 644: in AD-HIES, MIM: 147060<li>Y->C at 657: in AD-HIES, MIM: 147060</ul>								Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	<li>rs1064116</li><li>rs1803125</li><li>rs17878478</li>	2
P40818	9101	<ul><li>D->G at 443: in dbSNP:rs3743044<li>T->A at 739: in dbSNP:rs11638390<li>A->G at 827: in dbSNP:rs1056577</ul>									<li>rs11638390</li><li>rs3743044</li><li>rs1056577</li>	2
P40879	1811	<ul><li>R->Q at 68: in dbSNP:rs10280704<li>G->S at 120: in CLD, MIM: 214700<li>H->L at 124: in CLD, MIM: 214700<li>P->R at 131: in CLD, MIM: 214700<li>S->P at 206: in CLD, MIM: 214700<li>C->W at 307: probable polymorphism: in dbSNP rsrs34407351, MIM: 214700<li>Missing  at 317: in CLD, MIM: 214700<li>D->V at 468: in CLD, MIM: 214700<li>Missing  at 527: in CLD, MIM: 214700<li>R->Q at 554: in dbSNP:rs2301635, MIM: 214700<li>N->S at 753: in dbSNP:rs35342296, MIM: 214700</ul>								Congenital chloride diarrhea (CLD) [MIM:214700]	<li>rs10280704</li><li>rs34407351</li><li>rs35342296</li><li>rs2301635</li>	2
P40926	4191	<ul><li>A->V at 9: in dbSNP:rs17849553</ul>									rs17849553	2
P40937	5985	<ul><li>A->T at 13: in dbSNP rsrs5745796</ul>									rs5745796	2
P40938	5983	<ul><li>L->V at 16: in dbSNP:rs3135533</ul>									rs3135533	2
P40939	3030	<ul><li>V->D at 282: in TFP deficiency; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy, MIM: 609015<li>I->N at 305: in TFP deficiency; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy, MIM: 609015<li>L->P at 342: in LCHAD deficiency, MIM: 609016<li>Q->K at 358: in dbSNP:rs10200182, MIM: 609016<li>E->Q at 510: in AFLP and LCHAD deficiency; loss of activity, MIM: 609016</ul>							<li>P10274</li><li>P0C210</li><li>Q09SZ9</li><li>Q0R5R3</li><li>P03353</li><li>Q9HCM9</li><li>P14074</li>	<li>Trifunctional protein deficiency (TFP deficiency) [MIM:609015]</li><li>Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]</li><li>Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]</li>	rs10200182	2
P40967	6490	<ul><li>P->H at 320: in dbSNP:rs2071024<li>E->D at 370: in dbSNP:rs17118154</ul>									<li>rs17118154</li><li>rs2071024</li>	2
P41091	1968	<ul><li>K->R at 125: in dbSNP:rs16997659</ul>									rs16997659	2
P41134	3397	<ul><li>N->D at 63: in dbSNP:rs1802548</ul>									rs1802548	2
P41143	4985	<ul><li>F->C at 27: in dbSNP:rs1042114</ul>									rs1042114	2
P41145	4986	<ul><li>D->N at 374: in dbSNP:rs9282808</ul>									rs9282808	2
P41159	3952	<ul><li>Missing  at 49: in 30% the clones<li>V->M at 94: in dbSNP:rs17151919<li>R->W at 105: in morbid obesity and hypogonadism<li>V->M at 110: in dbSNP:rs1800564</ul>									<li>rs17151919</li><li>rs1800564</li>	2
P41161	2119	<ul><li>K->R at 348: in dbSNP:rs2228269</ul>									rs2228269	2
P41180	846	<ul><li>P->A at 39: in FHH, MIM: 145980<li>R->M at 62: in FHH and NSHPT; mild, MIM: 239200<li>R->C at 66: in FHH, MIM: 145980<li>A->T at 116: in FIH, MIM: 146200<li>E->A at 127: in ADH, MIM: 146200<li>T->M at 138: in FHH, MIM: 145980<li>G->E at 143: in FHH, MIM: 145980<li>L->R at 174: in FHH, MIM: 145980<li>R->Q at 185: in FHH, MIM: 145980<li>R->L at 227: in NSHPT: in dbSNP rsrs28936684, MIM: 239200<li>R->Q at 227: in FHH, MIM: 145980<li>E->K at 297: in FHH and NSHPT, MIM: 239200<li>G->E at 557: in FHH, MIM: 145980<li>C->Y at 582: in NSHPT, MIM: 239200<li>L->V at 616: in FIH, MIM: 146200<li>Q->H at 681: in FIH, MIM: 146200<li>E->K at 767: in ADH, MIM: 146200<li>R->W at 795: in FHH, MIM: 145980<li>F->S at 806: in FIH, MIM: 146200<li>C->S at 851, MIM: 146200<li>P->T at 951: in dbSNP:rs4987051, MIM: 146200<li>A->S at 986: in dbSNP:rs1801725, MIM: 146200<li>R->G at 990: in dbSNP:rs1042636, MIM: 146200<li>Q->E at 1011: in dbSNP:rs1801726, MIM: 146200</ul>							<li>Q24857</li><li>P81786</li><li>P0A9Q7</li><li>P42327</li><li>P0A9Q8</li><li>Q24803</li><li>P33744</li><li>P06525</li><li>Q9NAR7</li><li>P17648</li><li>P48977</li><li>Q04983</li>	<li>Autosomal dominant hypoparathyroidism (FIH) [MIM:146200]</li><li>Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]</li><li>Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]</li>	<li>rs1042636</li><li>rs4987051</li><li>rs1801725</li><li>rs28936684</li><li>rs1801726</li>	2
P41181	359	<ul><li>L->V at 22: in ANDI, MIM: 125800<li>L->P at 28: in ANDI, MIM: 125800<li>A->V at 47: in ANDI, MIM: 125800<li>Q->P at 57: in ANDI; dbSNP:rs28931580, MIM: 125800<li>G->R at 64: in ANDI, MIM: 125800<li>N->S at 68: in ANDI, MIM: 125800<li>V->M at 71: in ANDI, MIM: 125800<li>G->V at 100: in ANDI: in dbSNP rsrs28929477, MIM: 125800<li>L->F at 121: in dbSNP:rs11169226, MIM: 125800<li>T->M at 125: in ANDI, MIM: 125800<li>T->M at 126: in ANDI, MIM: 125800<li>A->T at 147: in ANDI, MIM: 125800<li>V->M at 168: in ANDI, MIM: 125800<li>G->R at 175: in ANDI, MIM: 125800<li>C->W at 181: in ANDI, MIM: 125800<li>P->A at 185: in ANDI, MIM: 125800<li>R->C at 187: in ANDI; mutant protein does not fold properly and is not functional, MIM: 125800<li>A->T at 190: in ANDI; mutant protein does not fold properly and is not functional, MIM: 125800<li>V->I at 194, MIM: 125800<li>W->C at 202: in ANDI, MIM: 125800<li>S->P at 216: in ANDI, MIM: 125800<li>E->K at 258: in ANDI; retained in the Golgi compartment, MIM: 125800<li>P->L at 262: in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane, MIM: 125800</ul>					<li>intracellular</li><li>membrane</li><li>ER</li>	<li>GO:0005622</li><li>GO:0016020</li><li>GO:0005783</li>	<li>P79200</li><li>P79213</li><li>P41181</li><li>P79229</li><li>P79803</li><li>P79144</li><li>P79168</li><li>O77740</li><li>P79099</li><li>P79164</li><li>P79165</li><li>O77697</li><li>O62735</li><li>O77722</li><li>O77714</li>	Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	<li>rs28929477</li><li>rs11169226</li><li>rs28931580</li>	2
P41182	604	<ul><li>N->S at 252: in dbSNP:rs34463990<li>A->T at 493: in dbSNP:rs2229362<li>H->Y at 676: in dbSNP:rs1056936</ul>									<li>rs34463990</li><li>rs2229362</li><li>rs1056936</li>	2
P41212	2120	<ul><li>Y->YG at 344: in one individual with AML; somatic mutation; unable to repress transcription</ul>	transcription	GO:0006350								2
P41214	1939	<ul><li>T->I at 210: in dbSNP:rs35252702</ul>									rs35252702	2
P41217	4345	<ul><li>C->S at 11: in dbSNP:rs1131199<li>P->T at 46: in dbSNP:rs2272022</ul>									<li>rs2272022</li><li>rs1131199</li>	2
P41218	4332	<ul><li>S->R at 156: in dbSNP:rs35417083<li>V->L at 286: in dbSNP:rs1056771<li>H->Y at 357: in dbSNP:rs2276403</ul>									<li>rs1056771</li><li>rs2276403</li><li>rs35417083</li>	2
P41222	5730	<ul><li>R->Q at 56: in dbSNP:rs11552179</ul>									rs11552179	2
P41225	6658	<ul><li>A->T at 43<li>A->AAAAAAAA at 248: in PHPX; reduced transcriptional activity and impaired nuclear localization<li>A->AAAAAAAAAAAA at 248: in MRXGH</ul>	localization	GO:0051179								2
P41226	7318	<ul><li>P->S at 712: in dbSNP:rs11928913<li>H->R at 817: in dbSNP:rs2230149</ul>									<li>rs2230149</li><li>rs11928913</li>	2
P41229	8242	<ul><li>D->G at 87: in XLMR; no effect on subcellular location and enzymatic activity, MIM: 300534<li>A->P at 388: in XLMR; impairs enzymatic activity and binding to H3-K9Me3, MIM: 300534<li>D->Y at 402: in XLMR; impairs enzymatic activity, MIM: 300534<li>S->R at 451: in XLMR, MIM: 300534<li>F->L at 642: in XLMR; impairs enzymatic activity, MIM: 300534<li>E->K at 698: in XLMR; abolishes function in vivo, but no effect on enzymatic activity or binding to H3-K9Me3, MIM: 300534<li>L->F at 731: in XLMR; impairs enzymatic activity, MIM: 300534<li>R->W at 750: in XLMR, MIM: 300534<li>Y->C at 751: in XLMR; impairs enzymatic activity, MIM: 300534</ul>			binding	GO:0005488			Q92796	X-linked mental retardation (XLMR) [MIM:300534]		2
P41235	3172	<ul><li>R->W at 136: in MODY1, MIM: 125850<li>T->I at 139: in dbSNP:rs1800961, MIM: 125850<li>V->M at 264: in late-onset NIDDM, MIM: 125850<li>E->Q at 285: in MODY1, MIM: 125850<li>V->I at 402: in MODY1; reduced transactivation activity, MIM: 125850<li>P->S at 445: in dbSNP:rs1063239, MIM: 125850</ul>								Maturity onset diabetes of the young type 1 (MODY1) [MIM:125850]	<li>rs1800961</li><li>rs1063239</li>	2
P41238	339	<ul><li>M->I at 80: in dbSNP:rs2302515<li>R->K at 236: in dbSNP:rs12820011</ul>									<li>rs12820011</li><li>rs2302515</li>	2
P41240	1445	<ul><li>P->L at 45<li>G->D at 287: in dbSNP:rs34866753<li>R->Q at 398: in dbSNP rsrs34616395<li>H->R at 442: in dbSNP rsrs35556162</ul>									<li>rs35556162</li><li>rs34616395</li><li>rs34866753</li>	2
P41247	8228	<ul><li>V->G at 48: in dbSNP:rs17856615<li>V->I at 113: in dbSNP:rs2231791<li>D->G at 134: in dbSNP:rs17851825<li>R->Q at 187: in dbSNP:rs2231793</ul>									<li>rs17851825</li><li>rs2231791</li><li>rs17856615</li><li>rs2231793</li>	2
P41250	2617	<ul><li>A->P at 42: in dbSNP:rs1049402<li>E->G at 125: in CMT2D; phenotype overlapping with DSMA-V: in dbSNP rsrs28936972, MIM: 601472<li>L->P at 183: in DSMA-V, MIM: 600794<li>T->I at 268: in dbSNP:rs2230310, MIM: 600794<li>G->R at 294: in CMT2D: in dbSNP rsrs28937322, MIM: 601472<li>R->Q at 388: in dbSNP:rs17159287, MIM: 601472<li>G->R at 580: in DSMA-V: in dbSNP rsrs28937323, MIM: 600794</ul>								<li>Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]</li><li>Distal spinal muscular atrophy type V (DSMA-V) [MIM:600794]</li>	<li>rs17159287</li><li>rs1049402</li><li>rs28936972</li><li>rs2230310</li><li>rs28937323</li><li>rs28937322</li>	2
P41273	8744	<ul><li>P->A at 17: in dbSNP:rs442511</ul>									rs442511	2
P41279	1326	<ul><li>S->F at 214: in dbSNP:rs3087944<li>CQSLDSALLERKRLL at 398-415: in oncogenic form<li>Missing  at 416-467: in oncogenic form</ul>									rs3087944	2
P41440	6573	<ul><li>H->R at 27: in dbSNP:rs1051266<li>A->V at 558: in dbSNP:rs35786590</ul>									<li>rs1051266</li><li>rs35786590</li>	2
P41567	10209	<ul><li>L->P at 59: in dbSNP:rs3390<li>R->G at 90: in dbSNP:rs3387</ul>									<li>rs3390</li><li>rs3387</li>	2
P41587	7434	<ul><li>A->T at 39: in dbSNP:rs1062609<li>R->H at 412: in dbSNP:rs1042620</ul>									<li>rs1062609</li><li>rs1042620</li>	2
P41597	1231	<ul><li>L->V at 45: in dbSNP:rs4987052<li>V->I at 64: confers relative resistance to infection by HIV-1; delay in disease progression in African Americans but not in Caucasians; dbSNP:rs1799864<li>G->E at 355: in dbSNP:rs3918387</ul>									<li>rs3918387</li><li>rs4987052</li><li>rs1799864</li>	2
P41732	7102	<ul><li>E->K at 53: in dbSNP:rs17851592<li>A->T at 127: in dbSNP:rs17851593<li>P->H at 172: in MRX58, MIM: 300210</ul>								Mental retardation X-linked type 58 (MRX58) [MIM:300210]	<li>rs17851593</li><li>rs17851592</li>	2
P41743	5584	<ul><li>P->L at 109: in a metastatic melanoma sample; somatic mutation<li>R->C at 121</ul>										2
P41968	4159	<ul><li>T->K at 6: have ligand binding and signaling properties similar to wild-type; dbSNP:rs3746619<li>V->I at 81: have ligand binding and signaling properties similar to wild-type; dbSNP:rs3827103<li>I->N at 183: associated with susceptibility to obesity; completely lacks signaling in response to agonist stimulation; coexpression of the wild-type and the mutant receptor shows that it does not exert dominant-negative activity on wild-type<li>I->S at 335: associated with susceptibility to obesity; in vitro expression studies demonstrate that the mutation causes complete loss of function; transfected cells show diffuse cytoplasmic staining indicating intracellular retention of the receptor</ul>			binding	GO:0005488	intracellular	GO:0005622			<li>rs3746619</li><li>rs3827103</li>	2
P41970	2004	<ul><li>P->L at 169: in dbSNP:rs35332676</ul>									rs35332676	2
P42025	10120	<ul><li>V->A at 93: in dbSNP:rs11547231<li>A->V at 143: in dbSNP:rs11692435</ul>									<li>rs11692435</li><li>rs11547231</li>	2
P42081	942	<ul><li>S->N at 170: in dbSNP:rs9282642<li>I->V at 185: in dbSNP:rs2681417<li>A->T at 310: in dbSNP:rs1129055<li>D->N at 323: in dbSNP:rs9282648</ul>									<li>rs9282642</li><li>rs9282648</li><li>rs2681417</li><li>rs1129055</li>	2
P42127	434	<ul><li>V->A at 13: in dbSNP:rs2296151<li>Q->P at 61: in dbSNP:rs1129414</ul>									<li>rs2296151</li><li>rs1129414</li>	2
P42166	7112	<ul><li>L->R at 238: in dbSNP:rs35998138<li>S->A at 293: in dbSNP:rs35645287<li>T->S at 317: in dbSNP:rs35969221<li>K->E at 416: in dbSNP:rs11838270<li>K->N at 478: in dbSNP:rs35761089<li>Q->E at 599: in dbSNP:rs17459334<li>R->C at 690: in dbSNP:rs17028450</ul>									<li>rs35761089</li><li>rs11838270</li><li>rs35969221</li><li>rs17028450</li><li>rs17459334</li><li>rs35998138</li><li>rs35645287</li>	2
P42167	7112	<ul><li>A->P at 287: in dbSNP:rs7133258<li>L->F at 427: in dbSNP:rs1058288</ul>									<li>rs1058288</li><li>rs7133258</li>	2
P42224	6772	<ul><li>I->T at 30: in dbSNP:rs34255470<li>P->A at 491: in a breast cancer sample; somatic mutation<li>L->P at 600: in STAT1 deficiency; complete, MIM: 600555<li>L->S at 706: in MSMD; loss of GAF and ISGF3 activation; impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs, MIM: 209950</ul>							<li>P36364</li><li>P42224</li><li>P28172</li><li>P31371</li><li>P51526</li><li>Q91875</li><li>Q08605</li><li>P54130</li><li>Q764M5</li>	<li>STAT1 deficiency [MIM:600555]</li><li>Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]</li>	rs34255470	2
P42226	6778	<ul><li>M->R at 181: in dbSNP:rs3024952</ul>									rs3024952	2
P42229	6776	<ul><li>R->H at 389: in dbSNP:rs2230134</ul>									rs2230134	2
P42261	2890	<ul><li>D->N at 487: in dbSNP:rs13166146<li>P->T at 521: in dbSNP:rs13166161<li>A->S at 536: in dbSNP:rs13166438<li>I->M at 548: in dbSNP:rs13186241<li>F->L at 588: in dbSNP:rs13186534</ul>									<li>rs13186241</li><li>rs13166438</li><li>rs13166161</li><li>rs13186534</li><li>rs13166146</li>	2
P42262	2891	<ul><li>Q->R at 607: in RNA edited version: in dbSNP rsrs17850674<li>Q->R at 608: in dbSNP:rs17850675</ul>									<li>rs17850674</li><li>rs17850675</li>	2
P42263		<ul><li>R->Q at 450: in MRX94, MIM: 300699<li>F->L at 525: in dbSNP:rs1052538, MIM: 300699<li>R->S at 631: in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics, MIM: 300699<li>M->T at 706: in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics, MIM: 300699<li>G->R at 833: in MRX94; reduced receptor expression possibly due to rapid degradation, MIM: 300699</ul>								Mental retardation X-linked type 94 (MRX94) [MIM:300699]	rs1052538	2
P42285	23517	<ul><li>A->P at 346: in dbSNP:rs35643285</ul>									rs35643285	2
P42330	8644	<ul><li>Q->H at 5: in dbSNP:rs12529<li>R->Q at 66: in dbSNP:rs35961894<li>R->C at 170: in dbSNP:rs35575889<li>M->I at 175: no effect on 17beta-HSD activity; dbSNP:rs1131132<li>P->S at 180: in dbSNP:rs34186955</ul>									<li>rs12529</li><li>rs1131132</li><li>rs35575889</li><li>rs34186955</li><li>rs35961894</li>	2
P42331	9938	<ul><li>R->W at 185: in dbSNP:rs3749130<li>R->S at 548: in dbSNP:rs4241344<li>M->T at 549: in dbSNP:rs10177248</ul>									<li>rs4241344</li><li>rs10177248</li><li>rs3749130</li>	2
P42336	5290	<ul><li>R->H at 38: in cancer; shows an increase in lipid kinase activity<li>I->V at 43: in dbSNP:rs1051399<li>R->Q at 88: in cancer<li>G->V at 106: in cancer; shows an increase in lipid kinase activity<li>S->R at 332: in dbSNP:rs1051407<li>Y->C at 343: in cancer<li>I->M at 391: in dbSNP:rs3729680<li>C->R at 420: in cancer; shows an increase in lipid kinase activity<li>E->Q at 453: in cancer; shows an increase in lipid kinase activity<li>E->K at 542: in cancer; shows an increase in lipid kinase activity; oncogenic in vivo<li>E->Q at 542: in cancer<li>E->V at 542: in cancer<li>E->A at 545: in cancer<li>E->G at 545: in cancer<li>E->K at 545: in cancer; shows an increase in lipid kinase activity; oncogenic in vivo<li>Q->E at 546: in cancer<li>Q->K at 546: in cancer<li>Q->P at 546: in cancer<li>Q->R at 546: in cancer<li>G->R at 1007: in cancer<li>Y->C at 1021: in cancer<li>Y->H at 1021: in cancer<li>Y->N at 1021: in cancer<li>R->Q at 1023: in cancer<li>T->N at 1025: in cancer<li>A->V at 1035: in cancer<li>M->I at 1043: in cancer; shows an increase in lipid kinase activity<li>H->L at 1047: in cancer<li>H->R at 1047: in cancer; shows an increase in lipid kinase activity; oncogenic in vivo<li>H->Y at 1047: in cancer<li>G->D at 1050: in cancer<li>T->K at 1052: in cancer<li>H->L at 1065: in cancer<li>H->Y at 1065: in cancer</ul>			lipid kinase activity	GO:0001727					<li>rs1051407</li><li>rs3729680</li><li>rs1051399</li>	2
P42338	5291	<ul><li>Q->H at 672: in dbSNP:rs2230462</ul>									rs2230462	2
P42345	2475	<ul><li>A->S at 8: in a lung large cell carcinoma sample; somatic mutation<li>M->T at 135: in a metastatic melanoma sample; somatic mutation<li>M->V at 1083: in dbSNP rsrs56164650<li>A->V at 1134: in dbSNP rsrs28730685<li>S->F at 1178: in dbSNP rsrs55975118<li>M->V at 2011: in an ovarian mucinous carcinoma sample; somatic mutation<li>S->Y at 2215: in a colorectal adenocarcinoma sample; somatic mutation<li>P->L at 2476: in a glioblastoma multiforme sample; somatic mutation</ul>									<li>rs55975118</li><li>rs56164650</li><li>rs28730685</li>	2
P42356	5297	<ul><li>M->V at 322: in dbSNP:rs17819211</ul>									rs17819211	2
P42357	3034	<ul><li>R->T at 206: in histidinemia, MIM: 235800<li>R->L at 208: in histidinemia, MIM: 235800<li>P->L at 259: in histidinemia, MIM: 235800<li>R->P at 322: in histidinemia, MIM: 235800<li>V->I at 439: in dbSNP:rs7297245, MIM: 235800</ul>								Histidinemia [MIM:235800]	rs7297245	2
P42566	2060	<ul><li>I->M at 822: in dbSNP:rs17567</ul>									rs17567	2
P42574	836	<ul><li>H->R at 22: in dbSNP:rs35578277<li>E->D at 190: in dbSNP rsrs1049210</ul>									<li>rs35578277</li><li>rs1049210</li>	2
P42575	835	<ul><li>V->L at 172: in dbSNP:rs4647297<li>P->A at 178: in dbSNP:rs4647298<li>R->G at 441: in dbSNP:rs4647338</ul>									<li>rs4647298</li><li>rs4647297</li><li>rs4647338</li>	2
P42658	1804	<ul><li>L->P at 854: in dbSNP:rs3734960</ul>									rs3734960	2
P42679	4145	<ul><li>A->T at 354: in an ovarian mucinous carcinoma sample; somatic mutation<li>A->T at 496: in dbSNP:rs35351680<li>R->Q at 503: in a colorectal adenocarcinoma sample; somatic mutation</ul>									rs35351680	2
P42680	7006	<ul><li>R->Q at 44: in dbSNP rsrs35374286<li>R->K at 563: in a lung adenocarcinoma sample; somatic mutation</ul>									rs35374286	2
P42681	7294	<ul><li>R->H at 45: in dbSNP:rs7658300<li>R->C at 63: in dbSNP rsrs41265727<li>R->Q at 336: in dbSNP:rs11724347</ul>									<li>rs11724347</li><li>rs7658300</li><li>rs41265727</li>	2
P42684	27	<ul><li>K->R at 930: in dbSNP:rs17277288<li>V->M at 946: in dbSNP:rs28913889<li>P->R at 996: in dbSNP:rs28913890<li>S->N at 1085: in dbSNP:rs28913891<li>T->A at 1101: in dbSNP:rs28913892</ul>									<li>rs17277288</li><li>rs28913889</li><li>rs28913890</li><li>rs28913892</li><li>rs28913891</li>	2
P42685	2444	<ul><li>I->V at 100: in dbSNP rsrs34704018<li>G->R at 122: in dbSNP:rs3756772<li>S->L at 133: in dbSNP:rs34064900</ul>									<li>rs3756772</li><li>rs34704018</li><li>rs34064900</li>	2
P42695	23310	<ul><li>R->Q at 622: in dbSNP:rs12292394<li>P->T at 907: in dbSNP:rs34739733<li>S->R at 1034: in dbSNP:rs7927108</ul>									<li>rs12292394</li><li>rs34739733</li><li>rs7927108</li>	2
P42701	3594	<ul><li>P->Q at 3: in dbSNP rsrs17884651<li>P->S at 47: in dbSNP rsrs17887176<li>R->H at 156: in dbSNP:rs11575926<li>R->W at 213: in MSMD, MIM: 209950<li>Q->R at 214: in dbSNP:rs11575934, MIM: 209950<li>H->Q at 339: in dbSNP rsrs17884957, MIM: 209950<li>M->T at 365: in dbSNP:rs375947, MIM: 209950<li>G->R at 378: in dbSNP:rs401502, MIM: 209950</ul>								Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	<li>rs11575934</li><li>rs17887176</li><li>rs17884957</li><li>rs17884651</li><li>rs401502</li><li>rs11575926</li><li>rs375947</li>	2
P42702	3977	<ul><li>H->Y at 116: in dbSNP:rs3729734<li>S->P at 279: in SWS, MIM: 601559<li>D->N at 578: in dbSNP:rs3729740, MIM: 601559<li>I->M at 633: in dbSNP:rs2303743, MIM: 601559<li>S->L at 664: in dbSNP:rs3729744, MIM: 601559<li>V->I at 785: in dbSNP:rs3110234, MIM: 601559<li>F->L at 1068: in a colorectal cancer sample; somatic mutation, MIM: 601559</ul>								Stueve-Wiedemann syndrome (SWS) [MIM:601559]	<li>rs2303743</li><li>rs3729740</li><li>rs3729734</li><li>rs3110234</li><li>rs3729744</li>	2
P42704	10128	<ul><li>A->V at 354: in LSFC, MIM: 220111<li>T->A at 478: in dbSNP:rs35035668, MIM: 220111</ul>								Leigh syndrome French-Canadian type (LSFC) [MIM:220111]	rs35035668	2
P42765	10449	<ul><li>M->V at 217: in dbSNP:rs11549285</ul>									rs11549285	2
P42768	7454	<ul><li>L->F at 27: in XLT<li>Missing  at 30: in XLT<li>E->K at 31: in WAS, MIM: 301000<li>C->W at 43: in WAS; moderate form, MIM: 301000<li>T->M at 45: in WAS and XLT, MIM: 301000<li>T->I at 48: in XLT, MIM: 301000<li>Q->H at 52: in WAS, MIM: 301000<li>A->V at 56: in XLT, MIM: 301000<li>P->L at 58: in WAS, MIM: 301000<li>P->R at 58: in XLT: in dbSNP rsrs28935178, MIM: 301000<li>G->W at 70: in WAS, MIM: 301000<li>C->R at 73: in WAS; severe form, MIM: 301000<li>V->M at 75: in XLT, MIM: 301000<li>S->P at 82: in WAS; attenuated form, MIM: 301000<li>Y->C at 83: in XLT, MIM: 301000<li>F->L at 84: in WAS; severe form, MIM: 301000<li>R->C at 86: in WAS, MIM: 301000<li>R->H at 86: in WAS, MIM: 301000<li>R->L at 86: in WAS, MIM: 301000<li>G->D at 89: in WAS; mild form, MIM: 301000<li>W->C at 97: in WAS; attenuated form, MIM: 301000<li>E->K at 131: in WAS, MIM: 301000<li>E->K at 133: in WAS; severe form, MIM: 301000<li>A->T at 134: in WAS, MIM: 301000<li>G->C at 187: in WAS, MIM: 301000<li>A->E at 236: in XLT, MIM: 301000<li>L->P at 270: in XLN; a constitutively activating mutation: in dbSNP rsrs28936079, MIM: 300299<li>K->E at 476: in WAS, MIM: 301000<li>R->K at 477: in XLT, MIM: 301000<li>I->N at 481: in XLT, MIM: 301000</ul>								<li>X-linked severe congenital neutropenia (XLN) [MIM:300299]</li><li>Wiskott-Aldrich syndrome (WAS) [MIM:301000]</li>	<li>rs28935178</li><li>rs28936079</li>	2
P42771	1029	<ul><li>D->E at 14: in a biliary tract tumor<li>L->P at 16: in a biliary tract tumor and a familial melanoma<li>A->P at 20: in a lung tumor and melanoma<li>A->S at 20: in a biliary tract tumor<li>G->D at 23: in a pancreas tumor<li>R->C at 24: in melanoma<li>R->P at 24: in CMM2 and melanoma, MIM: 155601<li>E->D at 26: in a biliary tract tumor, MIM: 155601<li>L->P at 32: in CMM2, MIM: 155601<li>E->D at 33: in a biliary tract tumor, MIM: 155601<li>G->A at 35: in CMM2 and a biliary tract tumor, MIM: 155601<li>G->E at 35: in melanoma, MIM: 155601<li>P->L at 48: in melanoma and a head and neck tumor; somatic mutation, MIM: 155601<li>I->S at 49: in a biliary tract tumor, MIM: 155601<li>I->T at 49, MIM: 155601<li>Q->R at 50: in CMM2, MIM: 155601<li>M->I at 53: in CMM2, MIM: 155601<li>S->I at 56: possible polymorphism, MIM: 155601<li>A->V at 57: in pancreas carcinoma; somatic mutation, MIM: 155601<li>R->Q at 58: in dbSNP:rs36204273, MIM: 155601<li>V->G at 59: in CMM2, MIM: 155601<li>A->T at 60, MIM: 155601<li>A->V at 60: in dbSNP:rs36204594, MIM: 155601<li>EL->DV at 61-62, MIM: 155601<li>L->P at 62: in familial melanoma, MIM: 155601<li>H->Y at 66: in non-small cell lung carcinoma, MIM: 155601<li>A->L at 68: in familial melanoma; requires 2 nucleotide substitutions, MIM: 155601<li>A->T at 68: in an esophagus tumor, MIM: 155601<li>A->V at 68, MIM: 155601<li>E->K at 69: in a bladder tumor, MIM: 155601<li>E->V at 69: in a lung tumor, MIM: 155601<li>N->K at 71: in familial melanoma, MIM: 155601<li>N->S at 71, MIM: 155601<li>C->G at 72: in an esophagus tumor, MIM: 155601<li>D->N at 74: in a bladder tumor, MIM: 155601<li>D->V at 74: in a biliary tract tumor, MIM: 155601<li>R->L at 80: in a head and neck tumor, MIM: 155601<li>P->L at 81: in melanoma; impairs the function; dbSNP:rs11552823, MIM: 155601<li>H->N at 83: in a lung tumor, MIM: 155601<li>H->Q at 83: in dbSNP:rs34968276, MIM: 155601<li>H->Y at 83: in a pancreas and a head and neck tumor, MIM: 155601<li>D->E at 84: in a bladder tumor, MIM: 155601<li>D->H at 84: in non-small cell lung carcinoma, MIM: 155601<li>D->N at 84: in an esophagus, a head and neck and a lung tumor, MIM: 155601<li>D->Y at 84: in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822, MIM: 155601<li>A->T at 85, MIM: 155601<li>R->P at 87: in CMM2; impairs the function, MIM: 155601<li>R->W at 87: in CMM2, MIM: 155601<li>E->D at 88: in a biliary tract tumor, MIM: 155601<li>G->D at 89: in melanoma; somatic mutation, MIM: 155601<li>G->S at 89: in melanoma, MIM: 155601<li>T->A at 93: in non-small cell lung carcinoma, MIM: 155601<li>L->Q at 94: in melanoma, MIM: 155601<li>V->A at 95: in non-small cell lung carcinoma, MIM: 155601<li>L->R at 97: possible polymorphism, MIM: 155601<li>H->P at 98: in melanoma, MIM: 155601<li>H->Q at 98: in melanoma, MIM: 155601<li>R->P at 99: in familial melanoma, MIM: 155601<li>R->Q at 99: in non-small cell lung carcinoma, MIM: 155601<li>R->W at 99: in dbSNP:rs34886500, MIM: 155601<li>A->L at 100: in melanoma; requires 2 nucleotide substitutions, MIM: 155601<li>A->P at 100, MIM: 155601<li>G->W at 101: in CMM2 and FAMMMPC; impairs the function, MIM: 606719<li>A->E at 102: in LFS; somatic mutation, MIM: 151623<li>A->T at 102: in dbSNP:rs35741010, MIM: 151623<li>Missing at 104-105, MIM: 151623<li>R->C at 107: in CMM2, MIM: 155601<li>R->H at 107, MIM: 155601<li>D->H at 108: in a bladder tumor, MIM: 155601<li>D->Y at 108: in a head and neck tumor, MIM: 155601<li>R->RR at 112: in CMM2, MIM: 155601<li>P->L at 114: in non-small cell lung carcinoma, MIM: 155601<li>L->M at 117: in melanoma; somatic mutation, MIM: 155601<li>A->T at 118: in CMM2, MIM: 155601<li>E->Q at 119: in a biliary tract tumor, MIM: 155601<li>E->A at 120: in non-small cell lung carcinoma, MIM: 155601<li>E->K at 120: in non-small cell lung carcinoma, MIM: 155601<li>G->R at 122: in CMM2, MIM: 155601<li>G->S at 122: in a biliary tract tumor, MIM: 155601<li>H->Q at 123: in leukemia; dbSNP:rs6413463, MIM: 155601<li>R->C at 124: in dbSNP:rs34170727, MIM: 155601<li>R->H at 124: in an esophagus tumor, MIM: 155601<li>V->D at 126: in CMM2; impairs the function, MIM: 155601<li>A->S at 127: in squamous cell carcinoma; dbSNP:rs6413464, MIM: 155601<li>A->P at 132: in non-small cell lung carcinoma, MIM: 155601<li>A->V at 134: in non-small cell lung carcinoma, MIM: 155601<li>H->Y at 142: in non-small cell lung carcinoma, MIM: 155601<li>R->C at 144: in squamous cell carcinoma, MIM: 155601<li>A->T at 148: in dbSNP:rs3731249, MIM: 155601<li>G->V at 150: in non-small cell lung carcinoma, MIM: 155601</ul>							P59082	<li>Li-Fraumeni syndrome (LFS) [MIM:151623]</li><li>Cutaneous malignant melanoma 2 (CMM2) [MIM:155601]</li><li>Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]</li>	<li>rs11552822</li><li>rs34886500</li><li>rs3731249</li><li>rs36204273</li><li>rs6413464</li><li>rs34968276</li><li>rs34170727</li><li>rs6413463</li><li>rs11552823</li><li>rs35741010</li><li>rs36204594</li>	2
P42772	1030	<ul><li>G->E at 47: in lung adenocarcinoma<li>A->V at 50: in lung adenocarcinoma</ul>										2
P42773	1031	<ul><li>A->P at 72: in breast cancer; loss of CDK6 interaction<li>T->M at 126: in dbSNP:rs17851380</ul>							Q00534		rs17851380	2
P42785	5547	<ul><li>E->D at 112: in dbSNP:rs2298668<li>T->S at 444: in dbSNP:rs2228312</ul>									<li>rs2298668</li><li>rs2228312</li>	2
P42858	3064	<ul><li>Missing at 38-40<li>E->A at 1384: in dbSNP:rs3025837</ul>									rs3025837	2
P42892	1889	<ul><li>T->I at 341: in dbSNP:rs1076669<li>W->R at 630: in dbSNP:rs2229451<li>R->C at 754: in Hirschsprung disease: in dbSNP rsrs3026906</ul>									<li>rs3026906</li><li>rs2229451</li><li>rs1076669</li>	2
P42898	4524	<ul><li>R->P at 51: in MTHFRD, MIM: 236250<li>R->Q at 52: in MTHFRD, MIM: 236250<li>R->Q at 68: in dbSNP:rs2066472, MIM: 236250<li>R->Q at 157: in MTHFRD, MIM: 236250<li>A->V at 222: common polymorphism; thermolabile; 50% reduced activity; at homozygosity reduces the risk for colorectal cancer in individuals with adequate folate status; decreased risk for adult acute leukemia; increased risk for folate-sensitive NTD; dbSNP:rs1801133, MIM: 236250<li>T->M at 227: in MTHFRD, MIM: 236250<li>P->L at 251: in MTHFRD, MIM: 236250<li>L->P at 323: in MTHFRD, MIM: 236250<li>N->S at 324: in MTHFRD, MIM: 236250<li>R->C at 325: in MTHFRD, MIM: 236250<li>R->C at 335: in MTHFRD, MIM: 236250<li>W->G at 339: in MTHFRD, MIM: 236250<li>R->C at 357: in MTHFRD, MIM: 236250<li>R->C at 377: in MTHFRD, MIM: 236250<li>G->D at 387: in MTHFRD, MIM: 236250<li>G->R at 422: in dbSNP:rs45571736, MIM: 236250<li>E->A at 428: common polymorphism; thermolabile; decreased activity: in dbSNP rsrs1801131, MIM: 236250<li>E->A at 429: common polymorphism; thermolabile; decreased activity; decreased risk for adult acute leukemia; dbSNP:rs1801131, MIM: 236250<li>E->A at 470, MIM: 236250<li>R->C at 519: in dbSNP rsrs45496998, MIM: 236250<li>R->H at 519: in dbSNP:rs45449298, MIM: 236250<li>G->E at 566: in dbSNP:rs2274974, MIM: 236250<li>P->L at 572: in MTHFRD, MIM: 236250<li>E->K at 586: in MTHFRD, MIM: 236250<li>R->Q at 594: in dbSNP:rs2274976, MIM: 236250<li>T->M at 653: in dbSNP:rs35737219, MIM: 236250</ul>								Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	<li>rs45571736</li><li>rs1801131</li><li>rs45496998</li><li>rs1801133</li><li>rs35737219</li><li>rs2066472</li><li>rs2274976</li><li>rs2274974</li><li>rs45449298</li>	2
P43003	6507	<ul><li>E->D at 219: in dbSNP:rs2032892<li>P->R at 290: in EA6, MIM: 600111</ul>								Episodic ataxia type 6 (EA6) [MIM:600111]	rs2032892	2
P43005	6505	<ul><li>A->G at 27: in dbSNP:rs2229885<li>F->Y at 50: in dbSNP:rs16921449</ul>									<li>rs2229885</li><li>rs16921449</li>	2
P43007	6509	<ul><li>G->R at 37: in dbSNP:rs1064512<li>V->I at 399: in dbSNP:rs759458</ul>									<li>rs1064512</li><li>rs759458</li>	2
P43026	8200	<ul><li>R->G at 163: in dbSNP:rs34534075<li>M->V at 173: in BDC; dbSNP:rs28936397, MIM: 113100<li>S->A at 276: in dbSNP:rs224331, MIM: 113100<li>L->R at 373: in SYM1; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells, MIM: 185800<li>R->Q at 378: in Du Pan syndrome, MIM: 228900<li>R->Q at 380: in BDA2; reduces activity; impairs processing, MIM: 112600<li>C->Y at 400: in AMDG, MIM: 200700<li>P->T at 436: in Du Pan syndrome, MIM: 228900<li>Missing  at 437: in Du Pan syndrome; located on the same allele as T-439 and L-440, MIM: 228900<li>R->L at 438: in SYNS2 and SYM1; increased biologic activity when compared to wild-type; normal binding to BMPR1B ectodomain but increased binding to that of BMPR1A, MIM: 185800<li>S->T at 439: in Du Pan syndrome; located on the same allele as L-437 del and L-440, MIM: 228900<li>H->L at 440: in Du Pan syndrome; located on the same allele as L-437 del and T-439, MIM: 228900<li>L->P at 441: in Du Pan syndrome and BDA2; the mutant is almost inactive; loss of binding to BMPR1A and BMPR1B ectodomains; dbSNP:rs28936683, MIM: 228900<li>S->N at 475: in SYNS2, MIM: 610017<li>E->K at 491: in SYM1, MIM: 185800</ul>			binding	GO:0005488			<li>Q4P9K6</li><li>P36894</li><li>Q6FXJ3</li><li>Q6BMY0</li><li>Q6CAW5</li><li>Q4IPX8</li><li>Q754F0</li><li>P43026</li><li>Q59Q43</li><li>O00238</li><li>Q05438</li><li>Q06563</li><li>Q5KND6</li><li>Q6CIY7</li>	<li>Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]</li><li>Du Pan syndrome [MIM:228900]</li><li>Brachydactyly type C (BDC) [MIM:113100]</li><li>Brachydactyly type A2 (BDA2) [MIM:112600]</li><li>Symphalangism proximal syndrome (SYM1) [MIM:185800]</li><li>Acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700]</li>	<li>rs224331</li><li>rs28936397</li><li>rs34534075</li><li>rs28936683</li>	2
P43034	5048	<ul><li>F->S at 31: in LIS1, MIM: 607432<li>H->R at 149: in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro, MIM: 607432<li>G->S at 162: in LIS1; dbSNP:rs28936410, MIM: 607432<li>S->P at 169: in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro, MIM: 607432<li>R->P at 241: in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells: in dbSNP rsrs28936411, MIM: 607432<li>H->P at 277: in LIS1, MIM: 607432<li>D->H at 317: in LIS1; reduces neuronal migration in vitro: in dbSNP rsrs28936689, MIM: 607432</ul>	neuronal migration	GO:0001764					<li>Q4I877</li><li>Q9NXR1</li><li>Q5REG7</li><li>Q8HXX0</li><li>Q9GL51</li><li>Q4P0N6</li><li>P43033</li><li>P43034</li><li>Q5KBH9</li><li>Q9PTR5</li><li>Q5IS43</li><li>Q5ZMC9</li><li>Q6C3S1</li><li>P25087</li>	<li>Lissencephaly type 1 (LIS1) [MIM:607432]</li><li>Subcortical band heterotopia (SBH) [MIM:607432]</li>	<li>rs28936689</li><li>rs28936410</li><li>rs28936411</li>	2
P43080	2978	<ul><li>P->L at 50: in COD3; some subjects may present a moderately severe cone-rod dystrophy; causes a decrease in the number of bound calcium ions from 3 to 2, without changing the activity profile, MIM: 602093<li>Y->C at 99: in COD3; type 1A; alters calcium ion sensitivity, leading to the constitutive stimulating activity of GC1 at high calcium ion concentration, where normal GUCA1A inhibits it, MIM: 602093<li>E->G at 155: in COD3; constitutive activation of GC1, MIM: 602093</ul>							<li>O73761</li><li>P53079</li><li>P43080</li><li>Q9H936</li><li>P79880</li><li>P46065</li>	Cone dystrophy type 3 (COD3) [MIM:602093]		2
P43115	5733	<ul><li>M->L at 169: in dbSNP:rs5670<li>T->M at 319: in dbSNP:rs13306020<li>N->S at 366: in dbSNP:rs13306014<li>P->L at 375: in dbSNP:rs5694</ul>									<li>rs5670</li><li>rs13306020</li><li>rs5694</li><li>rs13306014</li>	2
P43119	5739	<ul><li>V->M at 25: in dbSNP:rs2229127</ul>									rs2229127	2
P43121	4162	<ul><li>E->G at 89: in dbSNP:rs34587557</ul>									rs34587557	2
P43146	1630	<ul><li>M->T at 168: in a esophageal carcinoma<li>R->G at 201: in dbSNP:rs2229080<li>M->V at 1017: in dbSNP:rs984274<li>F->S at 1039: in a colorectal cancer sample; somatic mutation<li>P->H at 1375: in a colorectal carcinoma</ul>									<li>rs2229080</li><li>rs984274</li>	2
P43155	1384	<ul><li>L->M at 372: in dbSNP:rs3118635<li>A->P at 624: in dbSNP:rs17459086</ul>									<li>rs3118635</li><li>rs17459086</li>	2
P43220	2740	<ul><li>P->L at 7: in dbSNP:rs10305420<li>R->K at 20: in dbSNP:rs10305421<li>R->H at 44: in dbSNP:rs2295006<li>R->Q at 131: in dbSNP:rs3765467<li>G->S at 168: in dbSNP:rs6923761<li>F->L at 260: in dbSNP:rs1042044<li>A->T at 316: in dbSNP:rs10305492<li>S->C at 333: in dbSNP:rs10305493<li>R->Q at 421: in dbSNP:rs10305510</ul>									<li>rs10305510</li><li>rs2295006</li><li>rs1042044</li><li>rs6923761</li><li>rs10305493</li><li>rs3765467</li><li>rs10305421</li><li>rs10305492</li><li>rs10305420</li>	2
P43235	1513	<ul><li>G->E at 79: in PKND, MIM: 265800<li>G->R at 146: in PKND, MIM: 265800<li>A->V at 277: in PKND, MIM: 265800<li>L->P at 309: in PKND: in dbSNP rsrs29001685, MIM: 265800</ul>								Pycnodysostosis (PKND) [MIM:265800]	rs29001685	2
P43246	4436	<ul><li>A->T at 2: in HNPCC1, MIM: 120435<li>T->M at 8: could be associated with increased colorectal cancer susceptibility; dbSNP:rs17217716, MIM: 120435<li>S->I at 13: in colorectal cancer, MIM: 120435<li>V->F at 17: in gastric cancer; uncertain pathogenicity; cryptic acceptor splice site suppressed on ex vivo splicing assay, MIM: 120435<li>T->P at 33: in HNPCC1; shows slightly reduced mismatch binding or release efficiency, MIM: 120435<li>G->S at 40: in CRC, MIM: 120435<li>Y->C at 43: in dbSNP:rs17217723, MIM: 120435<li>T->M at 44: in HNPCC1, MIM: 120435<li>A->V at 45: in HNPCC1, MIM: 120435<li>H->Q at 46: in HNPCC1; dbSNP:rs33946261, MIM: 120435<li>Missing  at 92: in HNPCC1; uncertain pathogenicity; has no effect on ex vivo splicing assay, MIM: 120435<li>L->F at 93: in HNPCC1, MIM: 120435<li>R->H at 96, MIM: 120435<li>Y->C at 98: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>V->I at 102: in HNPCC1, MIM: 120435<li>R->K at 106: in dbSNP:rs41295286, MIM: 120435<li>K->T at 110: in HNPCC1; somatic mutation, MIM: 120435<li>N->S at 127: in HNPCC1; shows no defects; dbSNP:rs17217772, MIM: 120435<li>N->S at 139: in HNPCC1, MIM: 120435<li>I->M at 145: in HNPCC1, MIM: 120435<li>V->D at 161: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435<li>G->A at 162: in HNPCC1, MIM: 120435<li>G->R at 162: in HNPCC1; shows a decreased expression level of the MutS alpha complex and is associated with an abnormal subcellular localization pattern; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435<li>V->D at 163: in HNPCC1, MIM: 120435<li>V->G at 163: in HNPCC1, MIM: 120435<li>G->R at 164: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435<li>D->H at 167: in HNPCC1; does not show a decreased expression level of the MutS alpha complex and is not associated with an abnormal subcellular localization pattern; could be a polymorphism, MIM: 120435<li>I->V at 169: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>L->P at 173: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435<li>L->P at 175: in HNPCC1, MIM: 120435<li>L->P at 187: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435<li>E->G at 198: in HNPCC1, MIM: 120435<li>C->R at 199: in glioma; also associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>G->R at 203: in CRC; uncertain pathogenicity; somatic mutation, MIM: 120435<li>I->V at 216: in HNPCC1; could be a polymorphism; shows slightly reduced mismatch binding or release efficiency, MIM: 120435<li>K->Q at 246: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>Missing  at 265-314: in HNPCC1, MIM: 120435<li>A->V at 272: associated wiht HNPCC1; shows slightly reduced mismatch binding or release efficiency; results in partial exon 5 skipping on ex vivo splicing assay; dbSNP:rs34136999, MIM: 120435<li>D->Y at 283: in HNPCC1, MIM: 120435<li>A->T at 305: in HNPCC1, MIM: 120435<li>G->D at 322: common polymorphism; may be associated with increased colorectal cancer susceptibility; the equivalent substitution in yeast reduces the mismatch repair efficiency in vitro; shows slightly reduced mismatch binding or release efficiency; dbSNP:rs4987188, MIM: 120435<li>S->C at 323: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>S->Y at 323: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>N->D at 331: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>C->Y at 333: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435<li>T->I at 335: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>P->S at 336: in HNPCC1, MIM: 120435<li>V->I at 342: in colorectal cancer, MIM: 120435<li>P->L at 349: in HNPCC1, MIM: 120435<li>R->S at 359: in HNPCC1; shows a decreased expression level of the MutS alpha comp lex and is associated with an abnormal subcellular localization pattern, MIM: 120435<li>L->F at 390: in HNPCC1; uncertain pathogenicity; the equivalent substitution in yeast partially affects mismatch repair in vitro; dbSNP:rs17224367, MIM: 120435<li>K->M at 393: in HNPCC1, MIM: 120435<li>Q->K at 419: in CRC; uncertain pathogenicity; the equivalent substitution in yeast partially affects mismatch repair in vitro, MIM: 120435<li>Missing  at 440: in HNPCC1, MIM: 120435<li>V->E at 470: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>M->V at 492: in HNPCC1, MIM: 120435<li>D->Y at 506: in CRC; sporadic; early onset; the equivalent substitution in yeast partially affects mismatch repair in vitro, MIM: 120435<li>R->P at 524: in HNPCC1; defective in mismatch repair activity, MIM: 120435<li>T->P at 552: in HNPCC1, MIM: 120435<li>S->R at 554: in HNPCC1; could be a polymorphism, MIM: 120435<li>E->V at 562: in HNPCC1, MIM: 120435<li>T->A at 564: in HNPCC1; uncertain pathogenicity; dbSNP:rs55778204, MIM: 120435<li>N->S at 583: in HNPCC1, MIM: 120435<li>N->S at 596: in HNPCC1; could be a polymorphism; dbSNP:rs41295288, MIM: 120435<li>Missing  at 596: in HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>A->V at 600: in HNPCC1, MIM: 120435<li>D->N at 603: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435<li>H->N at 610: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>Y->C at 619: in CRC, MIM: 120435<li>P->L at 622: in HNPCC1; the equivalent substitution in yeast causes loss of function in a mismatch repair assay: in dbSNP rsrs28929483, MIM: 120435<li>Q->R at 629: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>A->P at 636: in HNPCC1; partial functional loss; mainly causes defects in mismatch binding or release efficiency, MIM: 120435<li>R->G at 638: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>H->R at 639: in HNPCC1, MIM: 120435<li>H->Y at 639: in HNPCC1; the equivalent substitution in yeast does not affect mismatch repair efficiency in vitro: in dbSNP rsrs28929484, MIM: 120435<li>C->G at 641, MIM: 120435<li>Q->E at 645: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>E->K at 647: in HNPCC1, MIM: 120435<li>Y->H at 656: in HNPCC1; somatic mutation, MIM: 120435<li>D->G at 660: in HNPCC1, MIM: 120435<li>P->L at 670: in dbSNP:rs41294982, MIM: 120435<li>N->Y at 671: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>G->S at 674: in HNPCC1; somatic mutation, MIM: 120435<li>I->T at 679: in HNPCC1; somatic mutation, MIM: 120435<li>M->I at 688: in HNPCC1, MIM: 120435<li>G->R at 692: in HNPCC1, MIM: 120435<li>P->L at 696: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>C->F at 697: in HNPCC1; the equivalent substitution in yeast causes loss of function in a mismatch repair assay; mainly causes defects in mismatch binding or release efficiency, MIM: 120435<li>C->R at 697: in HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>A->V at 714: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>S->F at 723: in HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>M->V at 729: in HNPCC1; somatic mutation, MIM: 120435<li>T->I at 732: in HNPCC1; somatic mutation, MIM: 120435<li>Missing  at 745-746: in HNPCC1; mainly causes defects in mismatch binding or release efficiency, MIM: 120435<li>D->Y at 748: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>E->K at 749: in HNPCC1; mainly causes defects in mismatch binding or release efficiency; the mutant protein is well expressed in tumors, MIM: 120435<li>I->V at 770, MIM: 120435<li>M->I at 779: in dbSNP:rs41295292, MIM: 120435<li>T->S at 807: in dbSNP:rs41295294, MIM: 120435<li>M->V at 813: in HNPCC1, MIM: 120435<li>Q->E at 824: in gastric cancer; uncertain pathogenicity, MIM: 120435<li>A->T at 834: in HNPCC1; shows no defects; could be a polymorphism, MIM: 120435<li>N->H at 835: in dbSNP:rs41295296, MIM: 120435<li>H->Q at 839: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435<li>H->R at 839: in HNPCC1, MIM: 120435<li>K->E at 845: in HNPCC1, MIM: 120435<li>E->A at 853: in HNPCC1; uncertain pathogenicity, MIM: 120435<li>P->A at 868: in gastric cancer; uncertain pathogenicity, MIM: 120435<li>A->G at 870: in gastric cancer; uncertain pathogenicity, MIM: 120435<li>C->G at 873: in gastric cancer; uncertain pathogenicity, MIM: 120435<li>E->G at 886: in HNPCC1, MIM: 120435<li>T->R at 905: in HNPCC1; could be a polymorphism, MIM: 120435<li>L->R at 911: in dbSNP:rs41295182, MIM: 120435<li>V->E at 923: in HNPCC1; could be a polymorphism, MIM: 120435<li>K->T at 931: in HNPCC1, MIM: 120435</ul>	<li>mismatch repair</li><li>localization</li>	<li>GO:0006298</li><li>GO:0051179</li>	binding	GO:0005488			<li>Q4FV41</li><li>Q8DWW1</li><li>Q7UP05</li><li>Q5WFY3</li><li>Q8XL87</li><li>Q9R0G6</li><li>Q4L5Z9</li><li>Q5N0X9</li><li>Q3IUH3</li><li>Q5FLX5</li><li>Q30ZX3</li><li>Q3ZYA0</li><li>Q4QML2</li><li>P27345</li><li>Q636Q7</li><li>Q3YSJ8</li><li>Q8L925</li><li>Q7NLT8</li><li>Q65QA9</li><li>Q8A334</li><li>Q6G0X1</li><li>Q87XW6</li><li>Q47DJ8</li><li>Q8PMX2</li><li>Q47WN0</li><li>Q5F5J4</li><li>Q3SJP0</li><li>Q6D8C1</li><li>Q8K9D2</li><li>Q5L0E5</li><li>Q8YES6</li><li>Q8PWA7</li><li>P47763</li><li>Q82ZA2</li><li>Q87LQ9</li><li>Q7NRW7</li><li>Q89AD3</li><li>Q92BV3</li><li>Q5HBQ7</li><li>Q5HGD6</li><li>Q7N8K0</li><li>P16960</li><li>Q5QUB6</li><li>Q38YR4</li><li>Q9KUI6</li><li>Q8KCC0</li><li>Q8F496</li><li>Q8RFK2</li><li>Q5E7G7</li><li>O51737</li><li>P74926</li><li>Q3BVY0</li><li>Q6AQ04</li><li>Q7V978</li><li>Q8Y789</li><li>Q5L554</li><li>Q931S8</li><li>Q8EBR9</li><li>Q9AC54</li><li>O84797</li><li>P44834</li><li>Q8TTB4</li><li>P56883</li><li>Q88ME7</li><li>Q6MBV4</li><li>Q60BA1</li><li>Q3SVD4</li><li>Q7W880</li><li>Q89VX1</li><li>Q8G310</li><li>Q57FM9</li><li>Q8DRW8</li><li>Q3KH79</li><li>Q7WLT5</li><li>Q56215</li><li>P0A1Y1</li><li>Q98C21</li><li>Q05488</li><li>Q6G542</li><li>Q9S6P8</li><li>P0A1Y0</li><li>Q7VKA1</li><li>P65493</li><li>Q7MHR2</li><li>Q3Z767</li><li>P65494</li><li>Q4UM86</li><li>Q9ZDM9</li><li>P57972</li><li>Q3JCL5</li><li>Q9CDK9</li><li>Q4US90</li><li>Q64MG7</li><li>Q8ZBQ3</li><li>Q6HF46</li><li>Q4ZWP5</li><li>Q3AQZ8</li><li>Q63SR9</li><li>Q81A25</li><li>Q891U1</li><li>Q7UA23</li><li>Q71ZR7</li><li>Q31X95</li><li>Q9PLD0</li><li>Q8UIF2</li><li>Q5L7B7</li><li>Q8DC53</li><li>Q5NL79</li><li>Q8E2R3</li><li>Q9ZIX6</li><li>Q87CI8</li><li>Q3ACA5</li><li>P70755</li><li>Q7VY01</li><li>Q895H2</li><li>Q8CPF0</li><li>Q65ZX6</li><li>Q56239</li><li>P0C1S1</li><li>Q5NEV8</li><li>Q97I19</li><li>Q68X73</li><li>Q99XL8</li><li>Q5M6I1</li><li>Q5HPP5</li><li>Q9HY08</li><li>Q8DGS4</li><li>Q9KAC0</li><li>Q8PBB5</li><li>Q32CJ6</li><li>Q8CXG6</li><li>Q82U08</li><li>Q5X4B2</li><li>Q8RA71</li><li>Q9JX94</li><li>Q7UZL6</li><li>Q8FEL3</li><li>Q92IL9</li><li>Q3JYM3</li><li>Q6GHE0</li><li>Q473E4</li><li>Q81WR3</li><li>Q8NZ24</li><li>Q6G9R8</li><li>Q7V9M5</li><li>Q5ZUJ3</li><li>Q4KHE3</li><li>Q49X88</li><li>Q8Y093</li><li>Q46CE2</li><li>O66652</li><li>Q48QT6</li><li>Q39EX8</li><li>Q48F92</li><li>Q5H2C5</li><li>Q88UZ7</li><li>Q9Z6W5</li><li>Q46IE5</li><li>Q5FHE8</li><li>P23909</li><li>O83348</li><li>Q821V6</li><li>Q66EB5</li><li>Q3A4F1</li><li>Q5M1Z0</li><li>Q6FC54</li><li>Q3KKQ0</li><li>Q8K5J5</li><li>P49849</li><li>Q67NK1</li><li>Q2FYZ9</li><li>Q65JE2</li><li>Q7MXR7</li><li>Q83QE9</li><li>Q6LMU0</li><li>Q5X9F3</li><li>Q3IDC8</li><li>P35444</li><li>P61672</li><li>P61673</li><li>P61670</li><li>P61671</li><li>Q57KL5</li><li>Q83CQ2</li><li>Q62J26</li><li>Q5PEE6</li><li>Q5LWH0</li><li>Q9JWT7</li><li>Q890S0</li><li>P61667</li><li>P61668</li><li>P61669</li><li>P61665</li><li>P61666</li><li>Q3IYI5</li><li>P57504</li><li>Q3JQS6</li><li>Q5WVP6</li><li>Q5NYP9</li><li>P73769</li><li>Q9PCR2</li><li>Q3YYC9</li>	Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]	<li>rs34136999</li><li>rs17217716</li><li>rs33946261</li><li>rs41294982</li><li>rs28929483</li><li>rs28929484</li><li>rs41295286</li><li>rs17217723</li><li>rs41295288</li><li>rs41295294</li><li>rs17217772</li><li>rs41295296</li><li>rs55778204</li><li>rs17224367</li><li>rs41295292</li><li>rs41295182</li><li>rs4987188</li>	2
P43250	2870	<ul><li>R->Q at 31: in a gastric adenocarcinoma sample; somatic mutation<li>T->M at 73: in dbSNP rsrs56382815<li>I->M at 275: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>									rs56382815	2
P43251	686	<ul><li>F->V at 128: in BTD deficiency, MIM: 253260<li>A->T at 171: in BTD deficiency: in dbSNP rsrs13073139, MIM: 253260<li>D->Y at 228: in BTD deficiency, MIM: 253260<li>H->R at 323: in BTD deficiency; partial, MIM: 253260<li>D->H at 444: in BTD deficiency; profound and partial; 52% decrease in activity: in dbSNP rsrs13078881, MIM: 253260<li>G->D at 451: in BTD deficiency; partial, MIM: 253260<li>Q->H at 456: in BTD deficiency, MIM: 253260<li>T->M at 532: in BTD deficiency, MIM: 253260<li>R->C at 538: in BTD deficiency, MIM: 253260</ul>							<li>P43251</li><li>Q8AV84</li>	Biotinidase deficiency (BTD deficiency) [MIM:253260]	<li>rs13078881</li><li>rs13073139</li>	2
P43268	2118	<ul><li>R->C at 437: in dbSNP:rs34260468</ul>									rs34260468	2
P43304	2820	<ul><li>R->H at 264: in dbSNP:rs2116665<li>K->Q at 453: in dbSNP:rs35096779<li>R->H at 525: in dbSNP:rs1051916</ul>									<li>rs1051916</li><li>rs35096779</li><li>rs2116665</li>	2
P43307	6745	<ul><li>L->S at 28: in dbSNP:rs10004</ul>									rs10004	2
P43320	1415	<ul><li>A->S at 65: in dbSNP:rs16986560</ul>									rs16986560	2
P43351	5893	<ul><li>R->W at 70: in dbSNP rsrs11571421<li>Q->E at 221: in dbSNP:rs4987206<li>S->N at 287: in dbSNP:rs11571463</ul>									<li>rs11571463</li><li>rs4987206</li><li>rs11571421</li>	2
P43355	4100	<ul><li>T->A at 32: probable polymorphism; dbSNP:rs2008160<li>A->T at 63: in dbSNP:rs2233044<li>R->Q at 72: in dbSNP:rs2008144<li>K->T at 278: in a breast cancer sample; somatic mutation</ul>									<li>rs2008160</li><li>rs2233044</li><li>rs2008144</li>	2
P43358		<ul><li>G->D at 153: in a breast cancer sample; somatic mutation<li>T->A at 173: in dbSNP:rs1047251</ul>									rs1047251	2
P43359	4104	<ul><li>Q->H at 29: in dbSNP:rs188387</ul>									rs188387	2
P43360	4105	<ul><li>S->I at 152: in dbSNP:rs7056365</ul>									rs7056365	2
P43361	4107	<ul><li>R->H at 121: in dbSNP:rs35744768<li>S->F at 306: in dbSNP:rs12010332</ul>									<li>rs35744768</li><li>rs12010332</li>	2
P43363	4109	<ul><li>K->R at 166: in dbSNP:rs210585<li>I->V at 234: in dbSNP:rs210586</ul>									<li>rs210586</li><li>rs210585</li>	2
P43364	4110	<ul><li>S->R at 191: in dbSNP:rs2233049</ul>									rs2233049	2
P43365	4111	<ul><li>E->D at 57: in dbSNP:rs16996512</ul>									rs16996512	2
P43366	4112	<ul><li>R->C at 267: in dbSNP:rs7062640</ul>									rs7062640	2
P43403	7535	<ul><li>R->L at 175: in dbSNP rsrs55964305<li>P->L at 191: in dbSNP rsrs56403250<li>G->E at 448: in a head and neck squamous cell carcinoma sample; somatic mutation<li>R->H at 465: in STD, MIM: 176947<li>S->R at 518: in STD, MIM: 176947<li>W->L at 523: in dbSNP rsrs56189815, MIM: 176947<li>K->KLEQ at 541: in STD, MIM: 176947</ul>							<li>P52842</li><li>Q06520</li><li>P50234</li>	Selective T-cell defect (STD) [MIM:176947]	<li>rs55964305</li><li>rs56189815</li><li>rs56403250</li>	2
P43405	6850	<ul><li>R->H at 45: in dbSNP:rs16906862</ul>									rs16906862	2
P43487	5902	<ul><li>E->D at 16: in a breast cancer sample; somatic mutation<li>A->V at 145: in dbSNP:rs5746863</ul>									rs5746863	2
P43489	7293	<ul><li>R->C at 10: in dbSNP rsrs35304565</ul>									rs35304565	2
P43490	10135	<ul><li>L->S at 176: in a colorectal cancer sample; somatic mutation</ul>										2
P43626		<ul><li>V->F at 5<li>P->R at 37<li>P->L at 135<li>P->T at 175<li>D->N at 184<li>H->R at 203<li>K->E at 237<li>R->C at 266</ul>										2
P43627		<ul><li>R->P at 37: in dbSNP:rs613240</ul>									rs613240	2
P43628	3804	<ul><li>V->A at 9: in dbSNP rsrs3810343<li>L->R at 32<li>H->Q at 34<li>P->R at 37: in dbSNP:rs613240<li>Q->E at 56: in dbSNP rsrs35719984<li>F->Y at 66: in dbSNP:rs673568<li>H->R at 71<li>P->L at 229: in dbSNP rsrs35861855<li>R->I at 242<li>A->T at 304: in dbSNP:rs4020187<li>R->H at 318: in dbSNP:rs1049267</ul>									<li>rs35719984</li><li>rs613240</li><li>rs673568</li><li>rs1049267</li><li>rs35861855</li><li>rs4020187</li><li>rs3810343</li>	2
P43629	3811	<ul><li>S->L at 2: in dbSNP:rs605219<li>L->F at 13: in dbSNP rsrs1142881<li>M->V at 23: in dbSNP rsrs1142882,rs62623407<li>I->V at 68: in dbSNP:rs45556431<li>I->L at 75: in dbSNP:rs1049150<li>P->S at 203: in dbSNP:rs2273731<li>P->L at 220: in dbSNP:rs680891<li>G->R at 259: in dbSNP:rs1049215<li>S->C at 333<li>L->R at 362: in dbSNP:rs1130468<li>E->Q at 394: in dbSNP:rs1130513</ul>									<li>rs2273731</li><li>rs1130468</li><li>rs1130513</li><li>rs45556431</li><li>rs605219</li><li>rs1049150</li><li>rs680891</li><li>rs62623407</li><li>rs1049215</li><li>rs1142881</li><li>rs1142882</li>	2
P43630	3812	<ul><li>P->A at 40<li>L->V at 113: in dbSNP:rs17412418<li>P->T at 132: in dbSNP:rs3745894<li>E->D at 158: in dbSNP rsrs1048270<li>R->H at 166: in dbSNP rsrs1048271<li>A->P at 228<li>I->T at 252<li>T->M at 397: in dbSNP:rs3745902<li>K->Q at 439: in dbSNP:rs3745903</ul>									<li>rs1048270</li><li>rs3745894</li><li>rs3745902</li><li>rs17412418</li><li>rs3745903</li><li>rs1048271</li>	2
P43631	100132285	<ul><li>K->E at 237: in dbSNP:rs2262065</ul>									rs2262065	2
P43632	3809	<ul><li>K->M at 65: in dbSNP:rs1130480<li>N->D at 68: in dbSNP:rs1130481<li>H->R at 71: in dbSNP:rs1130482<li>P->R at 89: in dbSNP:rs1130487<li>P->H at 92: in dbSNP:rs1143508<li>V->D at 93: in dbSNP:rs1130491<li>S->C at 103: in dbSNP:rs10406301</ul>									<li>rs1143508</li><li>rs1130487</li><li>rs1130482</li><li>rs1130480</li><li>rs1130481</li><li>rs1130491</li><li>rs10406301</li>	2
P43652	173	<ul><li>T->S at 404: in dbSNP:rs2276444</ul>									rs2276444	2
P43657	10161	<ul><li>I->V at 33: in dbSNP:rs1060585<li>D->V at 63: in ARWH, MIM: 278150<li>C->W at 137: in dbSNP:rs4151553, MIM: 278150<li>I->F at 188: in ARWH, MIM: 278150<li>E->K at 189: in ARWH, MIM: 278150<li>W->C at 307: in dbSNP:rs17071686, MIM: 278150</ul>								Autosomal recessive woolly hair (ARWH) [MIM:278150]	<li>rs1060585</li><li>rs4151553</li><li>rs17071686</li>	2
P43681	1137	<ul><li>S->F at 280: in ENFL1, MIM: 600513<li>S->L at 280: in ENFL1, MIM: 600513<li>E->G at 387: in dbSNP:rs45604738, MIM: 600513<li>S->L at 517: in dbSNP:rs45622132, MIM: 600513</ul>								Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]	<li>rs45622132</li><li>rs45604738</li>	2
P43694	2626	<ul><li>S->F at 52: in ASD2, MIM: 607941<li>G->S at 296: in ASD2, MIM: 607941<li>S->G at 377: in dbSNP:rs3729856, MIM: 607941</ul>								Atrial septal defect type 2 (ASD2) [MIM:607941]	rs3729856	2
P43699	7080	<ul><li>V->F at 205: in CHNRD, MIM: 610978<li>W->L at 208: in BHC; dbSNP:rs28936672, MIM: 118700<li>R->S at 213: in BHC; dbSNP:rs28936671, MIM: 118700</ul>							<li>P02717</li><li>P02718</li><li>P09691</li>	<li>Benign hereditary chorea (BHC) [MIM:118700]</li><li>Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]</li>	<li>rs28936672</li><li>rs28936671</li>	2
P45378	7140	<ul><li>R->H at 74: in DA2B, MIM: 601680</ul>								Distal arthrogryposis type 2B (DA2B) [MIM:601680]		2
P45379	7139	<ul><li>F->L at 80: in CMH2, MIM: 115195<li>I->N at 89: in CMH2, MIM: 115195<li>R->L at 102: in CMH2, MIM: 115195<li>R->Q at 102: in CMH2, MIM: 115195<li>R->W at 102: in CMH2, MIM: 115195<li>R->L at 104: in CMH2, MIM: 115195<li>A->V at 114: in CMH2, MIM: 115195<li>F->I at 120: in CMH2, MIM: 115195<li>F->V at 120: in CMH2, MIM: 115195<li>R->K at 139: in dbSNP rsrs2996496, MIM: 115195<li>R->C at 140: in CMH2, MIM: 115195<li>R->K at 140: in dbSNP:rs2996496, MIM: 115195<li>R->W at 141: in CMD1D, MIM: 601494<li>R->W at 151: in CMD1D, MIM: 601494<li>Missing  at 170: in CMH2, MIM: 601494<li>E->K at 173: in CMH2, MIM: 115195<li>S->F at 189: in CMH2, MIM: 115195<li>Missing  at 210: in CMD1D, MIM: 115195<li>R->L at 215: in CMD1D, MIM: 601494<li>Missing  at 220: in CMD1D, MIM: 601494<li>I->T at 221: in dbSNP:rs45520032, MIM: 601494<li>S->T at 249, MIM: 601494<li>E->D at 254: in CMH2, MIM: 115195<li>K->R at 263, MIM: 115195<li>N->Y at 279: in dbSNP:rs4523540, MIM: 115195<li>N->I at 281: in CMH2, MIM: 115195<li>R->C at 288: in CMH2, MIM: 115195<li>R->P at 288: in CMH2, MIM: 115195<li>R->C at 296: in CMH2, MIM: 115195</ul>								<li>Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]</li><li>Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]</li>	<li>rs4523540</li><li>rs45520032</li><li>rs2996496</li>	2
P45381	443	<ul><li>I->T at 16: in CAND; <0.5% residual enzyme activity, MIM: 271900<li>H->P at 21: in CAND, MIM: 271900<li>E->G at 24: in CAND, MIM: 271900<li>G->R at 27: in CAND; 3% residual enzyme activity, MIM: 271900<li>A->T at 57: in CAND, MIM: 271900<li>D->A at 68: in CAND, MIM: 271900<li>D->E at 114: in CAND; <0.5% residual enzyme activity, MIM: 271900<li>D->Y at 114: in CAND, MIM: 271900<li>G->E at 123: in CAND; about 25% residual enzyme activity, MIM: 271900<li>I->T at 143: in CAND; in a Japanese patient, MIM: 271900<li>C->R at 152: in CAND; loss of activity, MIM: 271900<li>C->W at 152: in CAND, MIM: 271900<li>C->Y at 152: in CAND; <0.5% residual enzyme activity, MIM: 271900<li>R->C at 168: in CAND; undetectable enzyme activity, MIM: 271900<li>R->H at 168: in CAND, MIM: 271900<li>Missing  at 176-177: in CAND, MIM: 271900<li>P->T at 181: in CAND, MIM: 271900<li>P->H at 183: in CAND, MIM: 271900<li>V->F at 186: in CAND, MIM: 271900<li>M->R at 195: in CAND, MIM: 271900<li>Y->C at 231: in CAND, MIM: 271900<li>H->R at 244: in CAND, MIM: 271900<li>D->V at 249: in CAND, MIM: 271900<li>G->R at 274: in CAND, MIM: 271900<li>P->L at 280: in CAND, MIM: 271900<li>P->S at 280: in CAND, MIM: 271900<li>E->A at 285: in CAND; predominant mutation in Ashkenazi Jewish population; 99% loss of activity; dbSNP:rs28940279, MIM: 271900<li>A->T at 287: in CAND, MIM: 271900<li>F->S at 295: in CAND, MIM: 271900<li>A->E at 305: in CAND; loss of activity; pan-European origin; most prevalent among non-Jewish CAND patients; probably the most ancient mutation; dbSNP:rs28940574, MIM: 271900<li>C->G at 310, MIM: 271900</ul>								Canavan disease (CAND) [MIM:271900]	<li>rs28940279</li><li>rs28940574</li>	2
P45452	4322	<ul><li>H->L at 2: in dbSNP:rs554797<li>F->S at 75: in SEMD2; abnormal intracellular autoactivation and autodegradation within the ER/Golgi resulting in the secretion of small and inactive fragments, MIM: 602111<li>D->G at 390: in dbSNP:rs17860568, MIM: 602111</ul>	secretion	GO:0046903			<li>intracellular</li><li>ER</li>	<li>GO:0005622</li><li>GO:0005783</li>		Spondyloepimetaphyseal dysplasia type 2 (SEMD2) [MIM:602111]	<li>rs554797</li><li>rs17860568</li>	2
P45844	9619	<ul><li>F->L at 668</ul>										2
P45877	5480	<ul><li>K->R at 86: in dbSNP:rs34341374<li>N->S at 190: in dbSNP:rs451195</ul>									<li>rs34341374</li><li>rs451195</li>	2
P45880	7417	<ul><li>A->V at 24</ul>										2
P45954	36	<ul><li>R->K at 13: in dbSNP:rs12263012<li>S->G at 209: in dbSNP:rs1799823<li>L->F at 255: in SBCADD, MIM: 610006<li>I->V at 316: in dbSNP:rs1131430, MIM: 610006<li>E->G at 376: in dbSNP:rs12357783, MIM: 610006</ul>								Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	<li>rs12357783</li><li>rs1131430</li><li>rs1799823</li><li>rs12263012</li>	2
P45983	5599	<ul><li>G->S at 171: in a renal clear cell carcinoma sample; somatic mutation<li>G->R at 177: in a glioblastoma multiforme sample; somatic mutation<li>E->K at 365: in dbSNP:rs45483593</ul>									rs45483593	2
P45984	5601	<ul><li>V->M at 13: in a colorectal adenocarcinoma sample; somatic mutation<li>K->N at 56: in a head & Neck squamous cell carcinoma sample; somatic mutation<li>A->T at 246: in dbSNP rsrs35421153<li>G->A at 268: in dbSNP rsrs35693958<li>R->I at 366: in dbSNP rsrs55736180</ul>									<li>rs35693958</li><li>rs55736180</li><li>rs35421153</li>	2
P45985	6416	<ul><li>Q->L at 142: in a lung squamous cell carcinoma sample; somatic mutation<li>R->W at 154: in a colorectal adenocarcinoma sample; somatic mutation<li>N->I at 234: in an ovarian serous carcinoma sample; somatic mutation<li>S->N at 251: in a metastatic melanoma sample; somatic mutation<li>A->T at 279: in a colorectal adenocarcinoma sample; somatic mutation</ul>										2
P46013	4288	<ul><li>N->S at 104: in dbSNP:rs2071498<li>W->R at 238: in dbSNP:rs7095325<li>E->D at 497: in dbSNP:rs11016076<li>Q->P at 574: in dbSNP:rs4471342<li>I->L at 631: in dbSNP:rs997983<li>R->W at 832: in dbSNP:rs34916904<li>L->V at 854: in dbSNP:rs2240<li>A->V at 872: in dbSNP:rs2853344<li>G->S at 1042: in dbSNP:rs2152143<li>T->S at 1120: in dbSNP:rs11016074<li>T->I at 1247: in dbSNP:rs4750685<li>E->V at 1403: in dbSNP:rs3740423<li>L->W at 1470: in dbSNP:rs2853345<li>V->M at 1559: in dbSNP:rs7918199<li>P->L at 1622: in dbSNP:rs2782871<li>T->A at 1849: in dbSNP:rs2782872<li>R->Q at 1876: in dbSNP:rs11591817<li>L->I at 1951: in dbSNP:rs34116632<li>I->T at 2101: in dbSNP:rs11016073<li>T->N at 2337: in dbSNP:rs7083622<li>N->S at 2363: in dbSNP:rs7071768<li>P->L at 2608: in dbSNP:rs1063535<li>R->H at 2649: in dbSNP:rs12777740<li>T->P at 2720: in dbSNP:rs1050767<li>D->G at 2760: in dbSNP:rs10082391<li>R->Q at 2786: in dbSNP:rs10764749<li>S->N at 2793: in dbSNP:rs10082533<li>R->H at 2845: in dbSNP:rs11016072<li>T->S at 2868: in dbSNP:rs2071496<li>Q->R at 2904: in dbSNP:rs11016071<li>N->D at 3097: in dbSNP:rs2798669<li>E->G at 3102: in dbSNP:rs34750407<li>T->S at 3150: in dbSNP:rs11106<li>K->E at 3217: in dbSNP:rs8473</ul>									<li>rs34750407</li><li>rs2782871</li><li>rs2782872</li><li>rs3740423</li><li>rs2071498</li><li>rs11591817</li><li>rs2071496</li><li>rs11016076</li><li>rs7071768</li><li>rs11106</li><li>rs11016074</li><li>rs34116632</li><li>rs11016073</li><li>rs2853344</li><li>rs10764749</li><li>rs2853345</li><li>rs8473</li><li>rs7083622</li><li>rs4471342</li><li>rs11016072</li><li>rs11016071</li><li>rs4750685</li><li>rs7095325</li><li>rs10082533</li><li>rs2152143</li><li>rs2240</li><li>rs1050767</li><li>rs1063535</li><li>rs34916904</li><li>rs10082391</li><li>rs2798669</li><li>rs997983</li><li>rs7918199</li><li>rs12777740</li>	2
P46019	5256	<ul><li>E->Q at 38: in dbSNP:rs17313469<li>H->P at 132: in GSD9A; type 2, MIM: 306000<li>H->Y at 132: in GSD9A; type 2, MIM: 306000<li>Missing  at 141: in GSD9A; type 1, MIM: 306000<li>R->C at 186: in GSD9A; type 2, MIM: 306000<li>R->H at 186: in GSD9A; type 2, MIM: 306000<li>Missing  at 189-190: in GSD9A; type 2, MIM: 306000<li>K->E at 189: in GSD9A; type 2, MIM: 306000<li>G->V at 193: in GSD9A; type 2, MIM: 306000<li>Missing  at 251: in GSD9A; type 2, MIM: 306000<li>R->H at 295: in GSD9A; type 1 and type 2, MIM: 306000<li>D->G at 299: in GSD9A; type 2, MIM: 306000<li>P->S at 399: in GSD9A; type 1, MIM: 306000<li>G->R at 416: in dbSNP:rs16980929, MIM: 306000<li>Missing  at 818-825: in GSD9A; type 1, MIM: 306000<li>NL->I at 953-954: in GSD9A; type 1, MIM: 306000<li>R->RTR at 1111: in GSD9A; type 2, MIM: 306000<li>T->I at 1114: in GSD9A; type 2, MIM: 306000<li>E->K at 1125: in GSD9A; type 1, MIM: 306000<li>P->L at 1205: in GSD9A; type 1, MIM: 306000<li>G->W at 1207: in GSD9A; type 1, MIM: 306000</ul>								Glycogen storage disease type 9A (GSD9A) [MIM:306000]	<li>rs17313469</li><li>rs16980929</li>	2
P46020	5255	<ul><li>D->V at 299: in GSD9D, MIM: 300559</ul>								Glycogen storage disease type 9D (GSD9D) [MIM:300559]		2
P46059	6564	<ul><li>V->I at 21<li>F->Y at 28: in dbSNP rsrs8187817<li>S->N at 117: in dbSNP:rs2297322<li>S->R at 117: in dbSNP:rs8187821<li>V->M at 122: in dbSNP:rs8187820<li>G->A at 419: in dbSNP:rs4646227<li>V->I at 450: in dbSNP:rs2274828<li>T->N at 451: in dbSNP:rs8187838<li>R->C at 459: in dbSNP:rs2274827<li>P->S at 537: in dbSNP:rs8187830</ul>									<li>rs2297322</li><li>rs2274828</li><li>rs8187817</li><li>rs8187838</li><li>rs4646227</li><li>rs2274827</li><li>rs8187820</li><li>rs8187830</li><li>rs8187821</li>	2
P46060	5905	<ul><li>E->Q at 133: in dbSNP:rs2229752</ul>									rs2229752	2
P46063	5965	<ul><li>V->I at 102: in dbSNP:rs1065751<li>V->I at 372: in dbSNP:rs2230003<li>K->T at 487: in dbSNP:rs6501<li>D->H at 495: in dbSNP:rs6499</ul>									<li>rs6501</li><li>rs6499</li><li>rs2230003</li><li>rs1065751</li>	2
P46087	4839	<ul><li>L->S at 73: in dbSNP:rs1128164</ul>									rs1128164	2
P46089	2827	<ul><li>R->H at 222: in dbSNP:rs734852</ul>									rs734852	2
P46091	2825	<ul><li>I->V at 307: in dbSNP:rs3732083</ul>									rs3732083	2
P46093	2828	<ul><li>S->N at 295: in dbSNP:rs36012326</ul>									rs36012326	2
P46098	3359	<ul><li>A->T at 33<li>S->N at 253: in dbSNP:rs4938063<li>R->H at 344: in dbSNP:rs35815285<li>P->R at 391<li>R->Q at 409</ul>									<li>rs4938063</li><li>rs35815285</li>	2
P46100	546	<ul><li>G->E at 175: in ATR-X, MIM: 301040<li>Missing  at 178-198: in ATR-X, MIM: 301040<li>N->S at 179: in ATR-X, MIM: 301040<li>P->A at 190: in ATR-X, MIM: 301040<li>P->L at 190: in ATR-X, MIM: 301040<li>P->S at 190: in ATR-X, MIM: 301040<li>L->F at 192: in ATR-X, MIM: 301040<li>V->I at 194: in ATR-X, MIM: 301040<li>C->S at 200: in ATR-X, MIM: 301040<li>Q->P at 219: in ATR-X, MIM: 301040<li>C->R at 220: in ATR-X, MIM: 301040<li>C->Y at 220: in MRXSHF1, MIM: 309580<li>W->S at 222: in ATR-X, MIM: 301040<li>C->F at 243: in ATR-X, MIM: 301040<li>R->C at 246: in ATR-X, MIM: 301040<li>R->L at 246: in ATR-X, MIM: 301040<li>G->C at 249: in ATR-X, MIM: 301040<li>G->D at 249: in ATR-X, MIM: 301040<li>L->S at 409: in MRXSHF1, MIM: 309580<li>P->S at 596: in dbSNP:rs1051678, MIM: 309580<li>G->E at 740: in dbSNP:rs1051680, MIM: 309580<li>Q->E at 929: in dbSNP:rs3088074, MIM: 309580<li>V->G at 1538: in ATR-X; could be a polymorphism, MIM: 301040<li>V->F at 1552: in ATR-X, MIM: 301040<li>H->R at 1609: in ATR-X, MIM: 301040<li>C->R at 1614: in ATR-X, MIM: 301040<li>T->M at 1621: in ATR-X, MIM: 301040<li>L->S at 1645: in ATR-X, MIM: 301040<li>K->N at 1650: in ATR-X, MIM: 301040<li>P->S at 1713: in ATR-X; without alpha-thalassemia, MIM: 301040<li>R->K at 1742: in ATR-X; atypical; patients presents spastic paraplegia at birth, MIM: 301040<li>Y->C at 1847: in ATR-X, MIM: 301040<li>N->S at 1860: rare polymorphism: in dbSNP rsrs45439799, MIM: 301040<li>D->V at 2035: in ATR-X, MIM: 301040<li>I->T at 2050: in MRXSHF1; originally reported as Carpenter-Waziri syndrome, MIM: 309580<li>Y->H at 2084: in ATR-X, MIM: 301040<li>R->Q at 2131: in MRXSHF1; originally reported as Juberg-Marsidi syndrome, MIM: 309580<li>Y->C at 2163: in ATR-X, MIM: 301040<li>R->G at 2271: in MRXSHF1, MIM: 309580</ul>							<li>Q13535</li><li>Q9H6X2</li><li>Q9FKS4</li><li>P20848</li>	<li>X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) [MIM:301040]</li><li>Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]</li>	<li>rs3088074</li><li>rs1051678</li><li>rs1051680</li><li>rs45439799</li>	2
P46199	4528	<ul><li>T->N at 59: in dbSNP:rs1056445<li>V->I at 556: in dbSNP:rs11357</ul>									<li>rs1056445</li><li>rs11357</li>	2
P46379	7917	<ul><li>S->P at 625: in dbSNP:rs1052486<li>A->V at 728: in dbSNP:rs11548856</ul>									<li>rs1052486</li><li>rs11548856</li>	2
P46439	2949	<ul><li>L->P at 179: in dbSNP:rs2227963</ul>									rs2227963	2
P46459		<ul><li>T->M at 476: in dbSNP:rs155733</ul>									rs155733	2
P46527	1027	<ul><li>R->W at 15: in dbSNP:rs2066828<li>V->G at 109: in dbSNP:rs2066827</ul>									<li>rs2066828</li><li>rs2066827</li>	2
P46531	4851	<ul><li>Q->R at 300: in dbSNP:rs11574885<li>R->W at 879: in dbSNP:rs11574895<li>V->I at 1671: in dbSNP:rs2229968</ul>									<li>rs2229968</li><li>rs11574895</li><li>rs11574885</li>	2
P46597	438	<ul><li>N->K at 17: in dbSNP:rs17149149</ul>									rs17149149	2
P46663	623	<ul><li>A->V at 250: in dbSNP:rs2229459<li>R->Q at 317: in dbSNP:rs8004609</ul>									<li>rs2229459</li><li>rs8004609</li>	2
P46721	6579	<ul><li>I->T at 13: in dbSNP:rs10841795<li>N->Y at 128: in dbSNP:rs11568567<li>N->I at 135: in dbSNP:rs45502302<li>E->D at 172: in dbSNP:rs11568563<li>A->T at 187<li>V->I at 220: in a colorectal cancer sample; somatic mutation<li>I->V at 355: in dbSNP:rs45628437<li>T->S at 668: in dbSNP:rs11568557</ul>									<li>rs45502302</li><li>rs10841795</li><li>rs11568557</li><li>rs11568567</li><li>rs45628437</li><li>rs11568563</li>	2
P46734	5606	<ul><li>R->T at 26: in dbSNP rsrs36047035<li>P->T at 40: in dbSNP:rs33911218<li>S->P at 68: in dbSNP:rs34105301<li>A->T at 84: in dbSNP:rs2305873<li>M->I at 90: in dbSNP:rs36076766<li>R->L at 94: in dbSNP:rs56067280<li>R->W at 96: in dbSNP:rs56216806<li>R->W at 175: in colon cancer<li>L->V at 215: in colon cancer<li>R->H at 293: in dbSNP:rs35206134<li>V->M at 339: in dbSNP rsrs2363198</ul>									<li>rs2363198</li><li>rs36047035</li><li>rs35206134</li><li>rs36076766</li><li>rs33911218</li><li>rs56216806</li><li>rs34105301</li><li>rs2305873</li><li>rs56067280</li>	2
P46736	79184	<ul><li>I->V at 74: in dbSNP:rs28997578</ul>									rs28997578	2
P46777	6125	<ul><li>Y->C at 210: in dbSNP:rs11540832</ul>									rs11540832	2
P46778	6144	<ul><li>F->S at 15: in dbSNP:rs17085349</ul>									rs17085349	2
P46779	6158	<ul><li>R->L at 66: in dbSNP:rs13502</ul>									rs13502	2
P46781	6203	<ul><li>L->F at 25: in dbSNP:rs41423149<li>V->F at 137: in a breast cancer sample; somatic mutation</ul>									rs41423149	2
P46821		<ul><li>R->Q at 326: in a colorectal cancer sample; somatic mutation<li>V->M at 574: in a colorectal cancer sample; somatic mutation<li>V->I at 594: in dbSNP:rs1866374<li>E->G at 869: in dbSNP:rs16876070<li>P->L at 1296: in dbSNP:rs34093016</ul>									<li>rs34093016</li><li>rs16876070</li><li>rs1866374</li>	2
P46934	4734	<ul><li>Y->H at 308: in a breast cancer sample; somatic mutation<li>Q->R at 360: in dbSNP:rs2303580<li>S->N at 379: in dbSNP:rs2303579</ul>									<li>rs2303579</li><li>rs2303580</li>	2
P46939	7402	<ul><li>L->I at 1880: in dbSNP:rs12204715<li>A->T at 1974: in dbSNP:rs12204734<li>G->D at 2060: in dbSNP:rs35676466<li>N->S at 2202: in dbSNP:rs1534443</ul>									<li>rs12204734</li><li>rs12204715</li><li>rs1534443</li><li>rs35676466</li>	2
P46940	8826	<ul><li>S->A at 256: in dbSNP:rs12324924</ul>									rs12324924	2
P46952	23498	<ul><li>V->I at 37: in dbSNP:rs3816183<li>T->S at 42: in dbSNP:rs3816182</ul>									<li>rs3816183</li><li>rs3816182</li>	2
P47211	2587	<ul><li>C->W at 15: in dbSNP rsrs1143093<li>N->S at 334: in dbSNP:rs5376<li>P->L at 342: in dbSNP:rs5377</ul>									<li>rs1143093</li><li>rs5377</li><li>rs5376</li>	2
P47710	1446	<ul><li>A->V at 117: in dbSNP:rs10030475</ul>									rs10030475	2
P47712	5321	<ul><li>G->R at 103: in dbSNP:rs28395828<li>V->I at 224: in dbSNP:rs12720588<li>H->Q at 442: in a breast cancer sample; somatic mutation<li>K->R at 651: in dbSNP:rs2307198</ul>									<li>rs12720588</li><li>rs28395828</li><li>rs2307198</li>	2
P47736	5909	<ul><li>A->T at 107: in dbSNP:rs2275363<li>C->R at 257: in a breast cancer sample; somatic mutation<li>Y->C at 609: in a breast cancer sample; somatic mutation</ul>									rs2275363	2
P47804	5995	<ul><li>S->R at 66: in ARRP, MIM: 268000<li>V->L at 132, MIM: 268000<li>H->N at 152, MIM: 268000<li>A->T at 234, MIM: 268000<li>S->F at 241, MIM: 268000</ul>								Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]		2
P47871	2642	<ul><li>G->S at 40: in dbSNP:rs1801483<li>P->A at 114: in dbSNP:rs5385<li>F->C at 303: in dbSNP:rs5387</ul>									<li>rs1801483</li><li>rs5385</li><li>rs5387</li>	2
P47872	6344	<ul><li>D->N at 110: in dbSNP:rs6726491<li>A->P at 122: in dbSNP:rs3731600</ul>									<li>rs3731600</li><li>rs6726491</li>	2
P47874	4975	<ul><li>R->W at 26: in dbSNP:rs2233546<li>G->R at 36: in dbSNP:rs2233548</ul>									<li>rs2233546</li><li>rs2233548</li>	2
P47881		<ul><li>R->Q at 125: in dbSNP:rs703903</ul>									rs703903	2
P47887	8388	<ul><li>C->R at 27: in dbSNP:rs769431<li>H->D at 168: in a colorectal cancer sample; somatic mutation</ul>									rs769431	2
P47890	8390	<ul><li>Q->H at 88: in dbSNP:rs9892491</ul>									rs9892491	2
P47895	220	<ul><li>M->V at 386: in dbSNP:rs3803430</ul>									rs3803430	2
P47898	3361	<ul><li>R->C at 262: in a colorectal cancer sample; somatic mutation</ul>										2
P47901	553	<ul><li>K->N at 65: in dbSNP:rs35369693<li>G->R at 191: in dbSNP:rs33990840<li>S->G at 267: in dbSNP rsrs36030374<li>R->H at 364: in dbSNP:rs28632197</ul>									<li>rs36030374</li><li>rs35369693</li><li>rs28632197</li><li>rs33990840</li>	2
P47902	1044	<ul><li>P->R at 130: in dbSNP:rs2302275</ul>									rs2302275	2
P47944	84560	<ul><li>C->Y at 30: in dbSNP:rs666636<li>R->W at 31: in dbSNP:rs666647<li>G->D at 48: in dbSNP:rs11643815</ul>									<li>rs666636</li><li>rs11643815</li><li>rs666647</li>	2
P47985	7386	<ul><li>S->A at 6: in dbSNP:rs8100724</ul>									rs8100724	2
P47989	7498	<ul><li>E->K at 133: in dbSNP:rs45447191<li>R->C at 149: in XU1, MIM: 278300<li>G->R at 172: in dbSNP:rs45523133, MIM: 278300<li>T->M at 235: in dbSNP:rs45469499, MIM: 278300<li>K->M at 395: in dbSNP:rs34929837, MIM: 278300<li>P->S at 555: in dbSNP:rs45577338, MIM: 278300<li>D->A at 584: in dbSNP:rs45491693, MIM: 278300<li>R->Q at 607: in dbSNP:rs45442092, MIM: 278300<li>K->N at 617: in dbSNP:rs45442398, MIM: 278300<li>T->I at 623: in dbSNP:rs45448694, MIM: 278300<li>I->V at 646: in dbSNP:rs17323225, MIM: 278300<li>I->V at 703: in dbSNP:rs17011368, MIM: 278300<li>L->F at 763: in a breast cancer sample; somatic mutation, MIM: 278300<li>R->G at 791: in a breast cancer sample; somatic mutation, MIM: 278300<li>T->M at 910, MIM: 278300<li>V->L at 1091: in dbSNP:rs45619033, MIM: 278300<li>N->T at 1109: in dbSNP:rs45547640, MIM: 278300<li>P->R at 1150: in dbSNP:rs1042036, MIM: 278300<li>R->C at 1176: in dbSNP:rs45624433, MIM: 278300<li>R->W at 1296: in dbSNP:rs45564939, MIM: 278300</ul>								Xanthinuria type 1 (XU1) [MIM:278300]	<li>rs45491693</li><li>rs1042036</li><li>rs45442092</li><li>rs45564939</li><li>rs45448694</li><li>rs17011368</li><li>rs34929837</li><li>rs17323225</li><li>rs45447191</li><li>rs45547640</li><li>rs45624433</li><li>rs45619033</li><li>rs45469499</li><li>rs45523133</li><li>rs45577338</li><li>rs45442398</li>	2
P48023	356	<ul><li>Y->S at 189: in dbSNP:rs12079514</ul>									rs12079514	2
P48029	6535	<ul><li>G->R at 87: in X-linked mental retardation<li>T->S at 164: in dbSNP:rs642454<li>G->R at 381: in X-linked mental retardation<li>P->L at 390: in X-linked mental retardation<li>Missing  at 408: in X-linked creatine deficiency syndrome<li>P->L at 554: in X-linked mental retardation</ul>									rs642454	2
P48039	4543	<ul><li>R->W at 54: exhibits significantly reduced B: in dbSNP rsrs1800885<li>A->V at 157: similar binding characteristics compared to wild-type; dbSNP:rs1800884<li>I->T at 212: in dbSNP:rs7654853</ul>			binding	GO:0005488					<li>rs7654853</li><li>rs1800884</li><li>rs1800885</li>	2
P48047	539	<ul><li>K->R at 98: in dbSNP:rs4842</ul>									rs4842	2
P48048	3758	<ul><li>R->W at 6: in dbSNP:rs34191956<li>V->E at 72: in BS2, MIM: 241200<li>D->Y at 74: in BS2, MIM: 241200<li>W->C at 99: in BS2, MIM: 241200<li>D->H at 108: in BS2, MIM: 241200<li>P->L at 110: in BS2, MIM: 241200<li>S->F at 115: in a breast cancer sample; somatic mutation, MIM: 241200<li>V->E at 122: in BS2, MIM: 241200<li>N->K at 124: in BS2, MIM: 241200<li>G->E at 167: in BS2, MIM: 241200<li>A->T at 198: in BS2, MIM: 241200<li>A->V at 214: in BS2, MIM: 241200<li>S->R at 219: in BS2, MIM: 241200<li>V->G at 315: in BS2, MIM: 241200<li>M->T at 357: in BS2: in dbSNP rsrs59172778, MIM: 241200</ul>							<li>P12865</li><li>P21465</li><li>P23309</li>	Bartter syndrome type 2 (BS2) [MIM:241200]	<li>rs59172778</li><li>rs34191956</li>	2
P48052	1358	<ul><li>E->G at 80: in dbSNP:rs17850135</ul>									rs17850135	2
P48060	11010	<ul><li>R->Q at 211: in dbSNP:rs3736392</ul>									rs3736392	2
P48145	2831	<ul><li>P->Q at 19: in a breast cancer sample; somatic mutation<li>Y->F at 135: in dbSNP:rs33977775<li>R->C at 319: in dbSNP:rs36068168</ul>									<li>rs33977775</li><li>rs36068168</li>	2
P48146	2832	<ul><li>G->R at 92: in a colorectal cancer sample; somatic mutation<li>Q->R at 206: in dbSNP:rs4809401</ul>									rs4809401	2
P48147	5550	<ul><li>L->V at 351: in dbSNP:rs12192054<li>V->I at 706: in dbSNP:rs1051484</ul>									<li>rs1051484</li><li>rs12192054</li>	2
P48165	2703	<ul><li>R->T at 23: in nuclear progressive cataract<li>V->E at 44: in cataract-microcornea syndrome, MIM: 116150<li>E->K at 48: in CZP1, MIM: 116200<li>V->G at 64: in CZP1 and nuclear progressive cataract, MIM: 116200<li>P->S at 88: in CZP1, MIM: 116200<li>R->Q at 198: in cataract-microcornea syndrome, MIM: 116150<li>I->M at 247: in CZP1, MIM: 116200</ul>								<li>Zonular pulverulent cataract type 1 (CZP1) [MIM:116200]</li><li>Cataract-microcornea syndrome [MIM:116150]</li>		2
P48167	2743	<ul><li>G->D at 251: in STHE, MIM: 149400</ul>								Startle disease (STHE) [MIM:149400]		2
P48169	2557	<ul><li>A->T at 19: in dbSNP:rs16859837<li>L->M at 26: in dbSNP:rs2229940<li>S->R at 516: in a breast cancer sample; somatic mutation</ul>									<li>rs16859837</li><li>rs2229940</li>	2
P48201	518	<ul><li>G->E at 93: in dbSNP:rs1802622</ul>									rs1802622	2
P48304	5968	<ul><li>R->H at 109: in dbSNP:rs7586984</ul>									rs7586984	2
P48307	7980	<ul><li>V->A at 102: in dbSNP:rs1804202<li>R->Q at 231: in dbSNP:rs12669450</ul>									<li>rs12669450</li><li>rs1804202</li>	2
P48357	3953	<ul><li>K->R at 109: in dbSNP:rs1137100<li>D->G at 124: in dbSNP:rs35573508<li>K->R at 204<li>Q->R at 223: in dbSNP:rs1137101<li>I->V at 503: in dbSNP:rs13306526<li>K->N at 656: in dbSNP:rs1805094 and dbSNP:rs8179183<li>S->T at 675<li>T->M at 699: in dbSNP:rs34499590</ul>									<li>rs1805094 and dbSNP:rs8179183</li><li>rs34499590</li><li>rs13306526</li><li>rs1137101</li><li>rs1137100</li><li>rs35573508</li>	2
P48378		<ul><li>A->G at 37: in a breast cancer sample; somatic mutation<li>E->K at 110: in a breast cancer sample; somatic mutation</ul>										2
P48382	5993	<ul><li>R->Q at 149: in BLS2, MIM: 209920<li>R->Q at 197: in dbSNP:rs2233851, MIM: 209920<li>P->R at 409: in dbSNP:rs2233854, MIM: 209920<li>P->S at 499: in dbSNP:rs2233855, MIM: 209920</ul>								Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	<li>rs2233851</li><li>rs2233854</li><li>rs2233855</li>	2
P48426	5305	<ul><li>N->S at 251: in dbSNP:rs10828317</ul>									rs10828317	2
P48436	6662	<ul><li>P->L at 108: in CMD1, MIM: 114290<li>F->L at 112: in CMD1; loss of DNA binding, MIM: 114290<li>F->S at 112: in CMD1, MIM: 114290<li>A->V at 119: in CMD1; almost no loss of DNA binding, MIM: 114290<li>W->R at 143: in CMD1, MIM: 114290<li>R->P at 152: in CMD1, MIM: 114290<li>F->L at 154: in CMD1; 19-fold reduction in DNA binding, MIM: 114290<li>A->T at 158: in CMD1; 6-fold reduction in DNA binding, MIM: 114290<li>H->Y at 165: in CMD1; loss of DNA binding: in dbSNP rsrs28940282, MIM: 114290<li>P->R at 170: in CMD1, MIM: 114290<li>Missing  at 354-356: in CMD1, MIM: 114290</ul>			DNA binding	GO:0003677			<li>P06787</li><li>P27165</li><li>P16075</li><li>P15094</li><li>Q9UWF0</li><li>P11120</li><li>P23286</li><li>O60041</li><li>O94739</li><li>Q9HFY6</li>	Campomelic dysplasia (CMD1) [MIM:114290]	rs28940282	2
P48444	372	<ul><li>F->L at 186: in dbSNP:rs682327<li>K->N at 309: in dbSNP:rs1063124</ul>									<li>rs1063124</li><li>rs682327</li>	2
P48448	222	<ul><li>A->T at 50: in dbSNP:rs3741178</ul>									rs3741178	2
P48449	4047	<ul><li>R->Q at 175: in dbSNP:rs2839158<li>H->R at 310: in dbSNP:rs34115287<li>R->W at 614: in dbSNP:rs35785446<li>L->V at 642: in dbSNP:rs2254524<li>P->L at 688: in dbSNP:rs17293705</ul>									<li>rs17293705</li><li>rs2839158</li><li>rs2254524</li><li>rs34115287</li><li>rs35785446</li>	2
P48506	2729	<ul><li>L->S at 55: in dbSNP:rs2066512<li>R->C at 127: in hemolytic anemia, MIM: 230450<li>P->L at 158: in hemolytic anemia, MIM: 230450<li>H->L at 370: in hemolytic anemia, MIM: 230450<li>P->S at 462: in dbSNP:rs17883718, MIM: 230450</ul>								Hemolytic anemia [MIM:230450]	<li>rs17883718</li><li>rs2066512</li>	2
P48507	2730	<ul><li>I->M at 209: in dbSNP:rs17880087</ul>									rs17880087	2
P48509	977	<ul><li>T->M at 120: in dbSNP rsrs34215390<li>K->R at 132: in dbSNP rsrs55840993<li>P->S at 137: in dbSNP rsrs55841393<li>R->H at 178</ul>									<li>rs34215390</li><li>rs55840993</li><li>rs55841393</li>	2
P48546	2696	<ul><li>R->W at 136: in dbSNP:rs13306402<li>A->V at 207: in dbSNP:rs1800436<li>L->V at 262: in dbSNP:rs5392<li>E->Q at 354: in dbSNP:rs1800437</ul>									<li>rs1800437</li><li>rs13306402</li><li>rs5392</li><li>rs1800436</li>	2
P48549	3760	<ul><li>K->R at 40: in dbSNP:rs16838016</ul>									rs16838016	2
P48551	3455	<ul><li>F->S at 8: associated with susceptibility to HVB infection; lower cell surface levels; lower induction of MHC class 1 expression by INF-alpha; dbSNP:rs2229207<li>F->V at 10: in dbSNP:rs1051393<li>I->V at 196: in dbSNP:rs17860223</ul>					cell surface	GO:0009928,GO:0009986	<li>P17267</li><li>P52787</li><li>Q5XWD5</li><li>P27352</li>		<li>rs1051393</li><li>rs17860223</li><li>rs2229207</li>	2
P48552	8204	<ul><li>V->I at 37: in dbSNP:rs9941840<li>H->R at 221<li>Y->F at 315: in dbSNP:rs2228507<li>I->V at 441<li>R->G at 448: common polymorphism; associated with endometriosis in a case-control study; dbSNP:rs2229742<li>N->S at 567: in dbSNP:rs9975169<li>S->L at 803<li>V->F at 1079</ul>									<li>rs2228507</li><li>rs9975169</li><li>rs2229742</li><li>rs9941840</li>	2
P48553	7109	<ul><li>V->E at 257<li>I->M at 633: in dbSNP:rs915877<li>V->M at 726: common polymorphism; dbSNP:rs2071152</ul>									<li>rs2071152</li><li>rs915877</li>	2
P48595	5273	<ul><li>S->A at 3: in dbSNP:rs17072097<li>I->M at 41: in dbSNP:rs8097425<li>I->T at 99: in dbSNP:rs724558<li>G->D at 135: in dbSNP:rs17072146<li>P->S at 140: in dbSNP:rs9967382<li>R->C at 246: in dbSNP:rs963075<li>D->N at 360: in dbSNP:rs35453062</ul>									<li>rs35453062</li><li>rs17072097</li><li>rs17072146</li><li>rs8097425</li><li>rs963075</li><li>rs9967382</li><li>rs724558</li>	2
P48634	7916	<ul><li>P->R at 57: in dbSNP:rs1062968<li>D->V at 82: in dbSNP:rs6921213<li>P->L at 106: in dbSNP:rs2280801<li>R->C at 477: in dbSNP:rs17857493<li>K->T at 544: in dbSNP:rs1046080<li>Q->K at 694: in dbSNP:rs2844469<li>D->E at 742: in dbSNP:rs1046081<li>R->C at 804: in dbSNP:rs11538262<li>T->I at 1087: in a breast cancer sample; somatic mutation<li>R->H at 1152: in a breast cancer sample; somatic mutation<li>G->A at 1285: in dbSNP:rs2736158<li>S->N at 1407: in dbSNP:rs35464047<li>G->A at 1415: in dbSNP:rs2857703<li>P->L at 1503: in dbSNP:rs2272593<li>G->D at 1544: in dbSNP:rs34175432<li>R->Q at 1563: in dbSNP:rs11538263<li>R->H at 1740: in dbSNP:rs1046089<li>G->A at 1744: in dbSNP:rs2844491<li>V->M at 1774: in dbSNP:rs11538264<li>V->M at 1775: in dbSNP:rs11538264<li>V->L at 1895: in dbSNP:rs3132453<li>P->S at 2006: in dbSNP:rs10885<li>P->L at 2130: in dbSNP:rs1046756</ul>									<li>rs2280801</li><li>rs2844469</li><li>rs34175432</li><li>rs10885</li><li>rs2736158</li><li>rs2857703</li><li>rs35464047</li><li>rs11538262</li><li>rs1046756</li><li>rs11538263</li><li>rs1046081</li><li>rs11538264</li><li>rs1046080</li><li>rs2844491</li><li>rs3132453</li><li>rs1046089</li><li>rs6921213</li><li>rs1062968</li><li>rs2272593</li><li>rs17857493</li>	2
P48637	2937	<ul><li>A->D at 26: in GSS deficiency, MIM: 266130<li>L->P at 188: in GSS deficiency; 100-fold reduction of activity, MIM: 266130<li>D->A at 219: in GSS deficiency, MIM: 266130<li>D->G at 219: in GSS deficiency: in dbSNP rsrs28938472, MIM: 266130<li>R->Q at 236: in dbSNP rsrs34239729, MIM: 266130<li>L->R at 254: in GSS deficiency, MIM: 266130<li>R->W at 267: in GSS deficiency, MIM: 266130<li>Y->C at 270: in GSS deficiency; 100-fold reduction of activity, MIM: 266130<li>Y->H at 270: in GSS deficiency; 100-fold reduction of activity, MIM: 266130<li>R->C at 283: in GSS deficiency; 10-fold reduction of activity, MIM: 266130<li>L->Q at 286: in GSS deficiency, MIM: 266130<li>R->C at 330: in GSS deficiency, MIM: 266130<li>K->E at 437: in dbSNP rsrs34852238, MIM: 266130<li>G->V at 464: in GSS deficiency, MIM: 266130<li>D->E at 469: in GSS deficiency, MIM: 266130</ul>							<li>P48637</li><li>Q8HXX5</li><li>Q5EAC2</li>	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	<li>rs34239729</li><li>rs28938472</li><li>rs34852238</li>	2
P48643	22948	<ul><li>E->V at 146: in dbSNP:rs11557652<li>H->R at 147: in autosomal recessive sensory neuropathy with spastic paraplegia, MIM: 256840</ul>								Autosomal recessive sensory neuropathy with spastic paraplegia [MIM:256840]	rs11557652	2
P48645	10874	<ul><li>E->G at 79: in dbSNP:rs35892915<li>F->L at 148: in dbSNP:rs12108463</ul>									<li>rs12108463</li><li>rs35892915</li>	2
P48651	9791	<ul><li>T->N at 423: in dbSNP:rs7835798</ul>									rs7835798	2
P48668	286887	<ul><li>R->Q at 182: in dbSNP:rs11608915<li>S->N at 227: in dbSNP:rs17099602<li>V->I at 481: in dbSNP:rs412533</ul>									<li>rs11608915</li><li>rs17099602</li><li>rs412533</li>	2
P48681	10763	<ul><li>V->I at 815: in dbSNP:rs951781<li>S->N at 1016: in dbSNP:rs2365718<li>P->L at 1101: in dbSNP:rs2886443<li>R->S at 1133: in dbSNP:rs17393797<li>P->L at 1275: in dbSNP:rs3748570</ul>									<li>rs951781</li><li>rs2365718</li><li>rs3748570</li><li>rs17393797</li><li>rs2886443</li>	2
P48728	275	<ul><li>H->R at 42: in NKH, MIM: 605899<li>G->R at 47: in NKH, MIM: 605899<li>N->I at 145: in NKH, MIM: 605899<li>E->K at 211: in NKH, MIM: 605899<li>G->D at 269: in NKH, MIM: 605899<li>D->H at 276: in NKH, MIM: 605899<li>R->H at 320: in NKH, MIM: 605899</ul>								Non-ketotic hyperglycinemia (NKH) [MIM:605899]		2
P48729	1452	<ul><li>D->H at 297: in a breast pleomorphic lobular carcinoma sample; somatic mutation</ul>										2
P48730	1453	<ul><li>T->A at 44: in FASPS, MIM: 604348<li>S->C at 97: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation, MIM: 604348<li>P->A at 401: in dbSNP rsrs56124628, MIM: 604348</ul>								Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	rs56124628	2
P48740	5648	<ul><li>T->I at 21: in dbSNP:rs1062049<li>V->A at 568: in dbSNP:rs13322090<li>G->R at 679: in dbSNP:rs3774266</ul>									<li>rs13322090</li><li>rs1062049</li><li>rs3774266</li>	2
P48745	4856	<ul><li>R->Q at 42: in dbSNP:rs2279112<li>R->H at 233: in dbSNP:rs11538929</ul>									<li>rs11538929</li><li>rs2279112</li>	2
P48788	7136	<ul><li>R->Q at 174: in DA2B, MIM: 601680</ul>								Distal arthrogryposis type 2B (DA2B) [MIM:601680]		2
P48960	976	<ul><li>R->Q at 367: in dbSNP:rs2230748</ul>									rs2230748	2
P49005	5425	<ul><li>N->S at 303: in dbSNP:rs3087366</ul>									rs3087366	2
P49019	8843	<ul><li>P->T at 173: in dbSNP rsrs1798192<li>L->F at 198: in dbSNP rsrs17884481<li>R->H at 253<li>M->I at 317<li>M->I at 346: in dbSNP rsrs56308926<li>G->S at 350</ul>									<li>rs1798192</li><li>rs56308926</li><li>rs17884481</li>	2
P49069	819	<ul><li>V->I at 78: in dbSNP:rs12657663<li>G->S at 100: in dbSNP:rs11552197</ul>									<li>rs12657663</li><li>rs11552197</li>	2
P49137	9261	<ul><li>A->G at 173: in dbSNP rsrs35671930<li>A->S at 361: in dbSNP rsrs55894011</ul>									<li>rs55894011</li><li>rs35671930</li>	2
P49184	1774	<ul><li>V->I at 122: in dbSNP:rs34952165</ul>									rs34952165	2
P49189	223	<ul><li>C->S at 116: in allele ALDH9A1*2</ul>							<li>Q29228</li><li>P49189</li><li>Q5R8A4</li><li>Q2KJH9</li>			2
P49221	7047	<ul><li>E->D at 100: in dbSNP:rs2271087<li>Y->H at 244: in dbSNP:rs9818345<li>S->T at 249: in dbSNP:rs937838<li>E->K at 313: in dbSNP:rs1995641<li>R->C at 372: in dbSNP:rs3749195<li>R->H at 372: in dbSNP:rs13326552<li>I->V at 376: in dbSNP:rs17077022<li>V->I at 409: in dbSNP:rs9876921<li>E->Q at 437: in dbSNP:rs1395388</ul>									<li>rs1995641</li><li>rs9818345</li><li>rs17077022</li><li>rs3749195</li><li>rs937838</li><li>rs1395388</li><li>rs9876921</li><li>rs2271087</li><li>rs13326552</li>	2
P49238	1524	<ul><li>E->D at 13: in dbSNP:rs41535248<li>T->A at 57<li>V->I at 122<li>V->I at 147: in dbSNP:rs3732380<li>V->I at 249: common polymorphism in Caucasian population; associated with a markedly reduced risk of acute coronary artery disease; dbSNP:rs3732379<li>T->M at 280: common polymorphism in Caucasian population; dbSNP:rs3732378</ul>									<li>rs3732379</li><li>rs3732378</li><li>rs41535248</li><li>rs3732380</li>	2
P49247	22934	<ul><li>A->V at 135: in ribose 5-phosphate isomerase deficiency, MIM: 608611</ul>							<li>Q12189</li><li>P49247</li><li>P47968</li>	Ribose 5-phosphate isomerase deficiency [MIM:608611]		2
P49257	3998	<ul><li>R->Q at 14: in dbSNP:rs1043302<li>V->A at 39: in dbSNP:rs33926449<li>I->T at 355: in dbSNP:rs3737392<li>M->L at 410: in dbSNP:rs2298711</ul>									<li>rs2298711</li><li>rs33926449</li><li>rs3737392</li><li>rs1043302</li>	2
P49279	6556	<ul><li>Q->R at 30<li>A->V at 318<li>D->N at 543: associated with susceptibility to infection with Mycobacterium ulcerans; dbSNP:rs17235409</ul>									rs17235409	2
P49281	4891	<ul><li>A->T at 48: in a colorectal cancer sample; somatic mutation<li>Missing  at 114: in hypochromic microcytic anemia<li>G->V at 212: in hypochromic microcytic anemia, MIM: 206100<li>E->D at 399: in hypochromic microcytic anemia; increased skipping of exon 12, MIM: 206100<li>R->C at 416: in hypochromic microcytic anemia, MIM: 206100<li>L->I at 435, MIM: 206100</ul>								Hypochromic microcytic anemia [MIM:206100]		2
P49286	4544	<ul><li>G->E at 24: in dbSNP:rs8192552<li>L->F at 66<li>R->H at 231: in dbSNP:rs8192553</ul>									<li>rs8192552</li><li>rs8192553</li>	2
P49321	4678	<ul><li>V->G at 620: in dbSNP:rs34618000</ul>									rs34618000	2
P49326	2330	<ul><li>P->A at 400: in dbSNP rsrs28381218<li>P->L at 457<li>R->S at 506: in dbSNP rsrs28381223</ul>									<li>rs28381223</li><li>rs28381218</li>	2
P49335	5456	<ul><li>Missing  at 201-202: in DFN3<li>A->V at 312: in DFN3, MIM: 304400<li>L->W at 317: in DFN3, MIM: 304400<li>R->G at 323: in DFN3; somatic mosaicism in 50% of the peripheral blood lymphocytes, MIM: 304400<li>R->S at 330: in DFN3, MIM: 304400<li>K->E at 334: in DFN3, MIM: 304400</ul>								X-linked deafness type 3 (DFN3) [MIM:304400]		2
P49336	1024	<ul><li>D->N at 189: in a lung neuroendocrine carcinoma sample; somatic mutation<li>R->C at 424: in a colorectal adenocarcinoma sample; somatic mutation</ul>										2
P49366	1725	<ul><li>E->D at 174: in dbSNP:rs10425108</ul>									rs10425108	2
P49368	7203	<ul><li>L->F at 391: in dbSNP:rs2230194</ul>									rs2230194	2
P49411	7284	<ul><li>R->Q at 336: in COXPD4, MIM: 610678</ul>								Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]		2
P49418	273	<ul><li>K->E at 218: in dbSNP:rs35166354<li>M->I at 376: in dbSNP:rs17171345<li>K->T at 496: in dbSNP:rs35024632</ul>									<li>rs35166354</li><li>rs35024632</li><li>rs17171345</li>	2
P49419	501	<ul><li>A->V at 171: in PDE, MIM: 266100<li>T->A at 384: in dbSNP:rs2306618, MIM: 266100<li>E->Q at 399: in PDE, MIM: 266100<li>K->Q at 411: in dbSNP:rs12514417, MIM: 266100</ul>								Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	<li>rs12514417</li><li>rs2306618</li>	2
P49427	997	<ul><li>D->H at 227: in dbSNP:rs16990650</ul>									rs16990650	2
P49441	3628	<ul><li>T->A at 228: frequency not significantly different between lithium-treated bipolar patients and healthy controls; dbSNP:rs7592352<li>V->M at 355: in dbSNP:rs35616200</ul>									<li>rs7592352</li><li>rs35616200</li>	2
P49448	2747	<ul><li>S->A at 498: in dbSNP:rs9697983</ul>									rs9697983	2
P49454	1063	<ul><li>Q->L at 250: in dbSNP:rs1050065<li>D->G at 272: in dbSNP:rs1050066<li>R->C at 300: in dbSNP:rs17023281<li>H->Q at 494: in dbSNP:rs2070065<li>M->V at 701: in dbSNP:rs3795524<li>Q->E at 754: in dbSNP:rs3795523<li>R->H at 815: in dbSNP:rs3795522<li>Y->D at 1018: in dbSNP:rs3795519<li>G->R at 1033: in dbSNP:rs3795518<li>T->I at 1105: in dbSNP:rs12067133<li>L->S at 1412: in dbSNP:rs3795517<li>A->T at 1515: in dbSNP:rs2666839<li>Missing at 1516-1611<li>K->R at 1539: in dbSNP:rs3795514<li>E->A at 2011: in dbSNP:rs3790647<li>N->K at 3202: in dbSNP:rs7289</ul>									<li>rs17023281</li><li>rs12067133</li><li>rs2070065</li><li>rs3790647</li><li>rs3795518</li><li>rs3795517</li><li>rs1050065</li><li>rs1050066</li><li>rs3795519</li><li>rs2666839</li><li>rs3795523</li><li>rs3795522</li><li>rs7289</li><li>rs3795524</li><li>rs3795514</li>	2
P49588	16	<ul><li>G->D at 275: in dbSNP:rs11537667</ul>									rs11537667	2
P49593	9647	<ul><li>R->C at 132: in dbSNP:rs9610645<li>R->Q at 296: in a colorectal cancer sample; somatic mutation<li>Q->K at 417: in a breast cancer sample; somatic mutation<li>L->R at 420: in dbSNP:rs2070507</ul>									<li>rs9610645</li><li>rs2070507</li>	2
P49619	1608	<ul><li>T->S at 142: in dbSNP:rs1004588<li>K->R at 316: in dbSNP:rs2193587<li>R->W at 370: in dbSNP:rs3213770<li>E->K at 706: in a breast cancer sample; somatic mutation</ul>									<li>rs1004588</li><li>rs3213770</li><li>rs2193587</li>	2
P49638	7274	<ul><li>R->W at 59: in AVED, MIM: 277460<li>H->Q at 101: in AVED, MIM: 277460<li>A->T at 120: in AVED, MIM: 277460<li>E->K at 141: in AVED, MIM: 277460<li>T->S at 172: in dbSNP:rs34647756, MIM: 277460<li>R->H at 192: in AVED: in dbSNP rsrs28936369, MIM: 277460<li>R->W at 221: in AVED; dbSNP:rs35916840, MIM: 277460<li>G->R at 246: in AVED; mild and slowly progressive form of the disease, MIM: 277460</ul>								Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	<li>rs28936369</li><li>rs35916840</li><li>rs34647756</li>	2
P49639	3198	<ul><li>H->R at 73: frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154<li>E->A at 189: in dbSNP:rs17500494</ul>									<li>rs17500494</li><li>rs10951154</li>	2
P49641	4122	<ul><li>Q->R at 412: in dbSNP:rs2106673<li>S->F at 665: in dbSNP:rs1266494</ul>									<li>rs1266494</li><li>rs2106673</li>	2
P49642	5557	<ul><li>D->A at 5: in dbSNP:rs2277339</ul>									rs2277339	2
P49643	5558	<ul><li>Q->L at 265: in dbSNP:rs3763183</ul>									rs3763183	2
P49674	1454	<ul><li>R->L at 256: in a lung adenocarcinoma sample; somatic mutation<li>H->R at 413: in dbSNP rsrs35665927</ul>									rs35665927	2
P49675	6770	<ul><li>R->W at 121: in dbSNP:rs34908868<li>E->G at 169: in CLAH; partial loss of activity, MIM: 201710<li>E->K at 169: in CLAH; partial loss of activity, MIM: 201710<li>R->L at 182: in CLAH; partial loss of activity, MIM: 201710<li>A->D at 203: in dbSNP:rs1042854, MIM: 201710<li>R->T at 217: in CLAH, MIM: 201710<li>A->V at 218: in CLAH; partial loss of activity, MIM: 201710<li>M->T at 225: in CLAH, MIM: 201710<li>Missing  at 272: in CLAH; partial loss of activity, MIM: 201710<li>L->P at 275: in CLAH; partial loss of activity, MIM: 201710</ul>								Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	<li>rs34908868</li><li>rs1042854</li>	2
P49682	2833	<ul><li>R->Q at 292<li>A->T at 363</ul>										2
P49683	2834	<ul><li>V->I at 283: in dbSNP:rs1613448<li>D->G at 302: in dbSNP:rs8192523</ul>									<li>rs8192523</li><li>rs1613448</li>	2
P49685	2838	<ul><li>P->S at 37: in dbSNP:rs2230344<li>M->V at 112: in dbSNP:rs35320046</ul>									<li>rs2230344</li><li>rs35320046</li>	2
P49703	379	<ul><li>T->N at 91: in dbSNP:rs1059968</ul>									rs1059968	2
P49711	10664	<ul><li>R->W at 339: in a Wilms' tumor<li>K->E at 344: in a breast tumor<li>H->R at 345: in a prostate tumor<li>R->Q at 448: in a Wilms' tumor</ul>										2
P49716	1052	<ul><li>R->W at 248: in dbSNP:rs34948549</ul>									rs34948549	2
P49720	5691	<ul><li>M->L at 34: in dbSNP:rs4907</ul>									rs4907	2
P49736	4171	<ul><li>D->E at 68: in dbSNP:rs3087452<li>L->F at 135: in dbSNP:rs2307314<li>E->Q at 166: in dbSNP:rs1048225<li>A->T at 396: in dbSNP:rs3087450<li>G->R at 501: in dbSNP:rs13087457<li>V->M at 667: in dbSNP:rs2307311<li>A->T at 727: in dbSNP:rs2307313</ul>									<li>rs2307313</li><li>rs3087450</li><li>rs2307314</li><li>rs2307311</li><li>rs3087452</li><li>rs1048225</li><li>rs13087457</li>	2
P49746	7059	<ul><li>S->G at 279: in dbSNP:rs35154152<li>R->G at 955: in a breast cancer sample; somatic mutation</ul>									rs35154152	2
P49747	1311	<ul><li>E->D at 50<li>L->W at 51<li>A->G at 109<li>R->G at 224<li>P->R at 276: in EDM1, MIM: 132400<li>R->P at 285, MIM: 132400<li>D->N at 290: in PSACH; mild form, MIM: 177170<li>G->R at 299: in PSACH; mild form, MIM: 177170<li>C->R at 328: in PSACH; mild form, MIM: 177170<li>D->Y at 342: in EDM1; Fairbank type, MIM: 132400<li>C->R at 348: in PSACH, MIM: 177170<li>D->V at 349: in PSACH; mild form, MIM: 177170<li>D->V at 361: in EDM1; Fairbank type, MIM: 132400<li>D->Y at 361: in EDM1, MIM: 132400<li>Missing  at 367-368: in EDM1, MIM: 132400<li>C->S at 371: in EDM1; Fairbank type, MIM: 132400<li>Missing  at 372: in PSACH, MIM: 132400<li>Missing  at 374: in PSACH; mild form, MIM: 132400<li>R->C at 381: in dbSNP:rs3179763, MIM: 132400<li>C->G at 387: in PSACH; mild form, MIM: 177170<li>PNSD->V at 391-394: in PSACH, MIM: 177170<li>D->Y at 408: in EDM1, MIM: 132400<li>D->A at 420: in EDM1, MIM: 132400<li>G->E at 440: in PSACH; mild form, MIM: 177170<li>G->R at 440: in PSACH; mild form, MIM: 177170<li>N->S at 453: in EDM1; Fairbank type: in dbSNP rsrs28936668, MIM: 132400<li>Missing  at 459: in PSACH; severe form, MIM: 132400<li>C->Y at 468: in PSACH; severe form, MIM: 177170<li>Missing  at 469: in PSACH, MIM: 177170<li>D->Y at 472: in PSACH; severe form, MIM: 177170<li>D->G at 473: in PSACH; severe form: in dbSNP rsrs28936669, MIM: 177170<li>Missing  at 473: in PSACH; severe form, MIM: 177170<li>D->G at 482: in PSACH, MIM: 177170<li>Missing  at 513-516: in PSACH; mild form, MIM: 177170<li>D->N at 518: in PSACH; mild form, MIM: 177170<li>N->K at 523: in EDM1; Ribbing type, MIM: 132400<li>T->M at 585: in PSACH; mild form and EDM1, MIM: 177170<li>T->R at 585: in EDM1, MIM: 132400<li>G->D at 719: in PSACH; severe, MIM: 177170</ul>								<li>Pseudoachondroplasia (PSACH) [MIM:177170]</li><li>Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]</li>	<li>rs28936669</li><li>rs28936668</li><li>rs3179763</li>	2
P49748	37	<ul><li>L->F at 17: in dbSNP:rs2230179<li>G->D at 43: in VLCAD deficiency; could be a polymorphism; dbSNP:rs2230178, MIM: 201475<li>P->L at 65: in dbSNP:rs28934585, MIM: 201475<li>Missing  at 130: in VLCAD deficiency, MIM: 201475<li>T->N at 158: in VLCAD deficiency, MIM: 201475<li>Q->R at 159: in VLCAD deficiency, MIM: 201475<li>V->M at 174: in VLCAD deficiency, MIM: 201475<li>G->S at 185: in VLCAD deficiency, MIM: 201475<li>A->P at 213: in VLCAD deficiency, MIM: 201475<li>E->K at 218: in VLCAD deficiency, MIM: 201475<li>L->R at 243: in VLCAD deficiency, MIM: 201475<li>K->E at 247: in VLCAD deficiency, MIM: 201475<li>K->T at 247: in VLCAD deficiency, MIM: 201475<li>T->M at 260: in VLCAD deficiency, MIM: 201475<li>Missing  at 278: in VLCAD deficiency, MIM: 201475<li>A->D at 281: in VLCAD deficiency, MIM: 201475<li>V->A at 283: in VLCAD deficiency, MIM: 201475<li>G->D at 290: in VLCAD deficiency, MIM: 201475<li>G->E at 294: in VLCAD deficiency, MIM: 201475<li>K->N at 299: in VLCAD deficiency, MIM: 201475<li>Missing  at 299: in VLCAD deficiency, MIM: 201475<li>V->A at 317: in VLCAD deficiency, MIM: 201475<li>M->V at 352: in VLCAD deficiency, MIM: 201475<li>A->S at 359: in dbSNP:rs1051701, MIM: 201475<li>R->C at 366: in VLCAD deficiency, MIM: 201475<li>R->H at 366: in VLCAD deficiency, MIM: 201475<li>Missing  at 381: in VLCAD deficiency, MIM: 201475<li>K->Q at 382: in VLCAD deficiency, MIM: 201475<li>D->H at 405: in VLCAD deficiency, MIM: 201475<li>G->D at 441: in VLCAD deficiency; dbSNP:rs2309689, MIM: 201475<li>R->H at 450: in VLCAD deficiency, MIM: 201475<li>R->Q at 453: in VLCAD deficiency, MIM: 201475<li>D->N at 454: in VLCAD deficiency, MIM: 201475<li>R->H at 456: in VLCAD deficiency, MIM: 201475<li>F->L at 458: in VLCAD deficiency, MIM: 201475<li>R->W at 459: in VLCAD deficiency, MIM: 201475<li>G->E at 463: in VLCAD deficiency, MIM: 201475<li>R->Q at 469: in VLCAD deficiency, MIM: 201475<li>R->W at 469: in VLCAD deficiency, MIM: 201475<li>A->P at 490: in VLCAD deficiency, MIM: 201475<li>L->P at 502: in VLCAD deficiency, MIM: 201475<li>E->K at 534: in VLCAD deficiency; dbSNP:rs2230180, MIM: 201475<li>L->I at 602: in VLCAD deficiency, MIM: 201475<li>R->W at 613: in VLCAD deficiency, MIM: 201475<li>R->Q at 615: in VLCAD deficiency, MIM: 201475<li>S->F at 623: in dbSNP:rs13383, MIM: 201475</ul>							<li>P49748</li><li>P45953</li><li>Q8HXY7</li><li>P48818</li><li>P50544</li>	Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]	<li>rs2230179</li><li>rs2309689</li><li>rs2230178</li><li>rs1051701</li><li>rs28934585</li><li>rs13383</li><li>rs2230180</li>	2
P49753	10965	<ul><li>H->R at 475: in dbSNP:rs7494</ul>									rs7494	2
P49754	27072	<ul><li>T->P at 146: in dbSNP:rs35693565<li>C->R at 647: in dbSNP:rs11762417<li>R->H at 843: in dbSNP:rs1059508</ul>									<li>rs11762417</li><li>rs1059508</li><li>rs35693565</li>	2
P49755	10972	<ul><li>S->Y at 64: in dbSNP:rs4929<li>R->G at 152: in dbSNP:rs17103066</ul>									<li>rs17103066</li><li>rs4929</li>	2
P49757	8650	<ul><li>V->I at 387: in dbSNP:rs17182272<li>G->D at 595: in dbSNP:rs17781919</ul>									<li>rs17781919</li><li>rs17182272</li>	2
P49759	1195	<ul><li>S->F at 61: in dbSNP rsrs55989135<li>N->D at 99: in dbSNP:rs6735666<li>R->G at 118: in dbSNP rsrs56135616<li>P->S at 307: in dbSNP rsrs35412475<li>M->T at 440: in dbSNP rsrs35393352<li>E->G at 459: in dbSNP:rs12709</ul>									<li>rs35393352</li><li>rs56135616</li><li>rs35412475</li><li>rs6735666</li><li>rs12709</li><li>rs55989135</li>	2
P49761	1198	<ul><li>R->C at 486<li>Q->R at 607<li>R->W at 628</ul>										2
P49768	5663	<ul><li>A->V at 79: in AD3; no effect on interaction with GFAP, MIM: 607822<li>V->L at 82: in AD3; no effect on interaction with GFAP, MIM: 607822<li>C->S at 92: in AD3, MIM: 607822<li>V->F at 96: in AD3, MIM: 607822<li>F->L at 105: in AD3, MIM: 607822<li>L->P at 113: in frontotemporal dementia, MIM: 600274<li>Y->C at 115: in AD3, MIM: 607822<li>Y->H at 115: in AD3, MIM: 607822<li>T->N at 116: in AD3, MIM: 607822<li>P->L at 117: in AD3, MIM: 607822<li>E->D at 120: in AD3, MIM: 607822<li>E->K at 120: in AD3, MIM: 607822<li>N->D at 135: in AD3, MIM: 607822<li>M->I at 139: in AD3, MIM: 607822<li>M->K at 139: in AD3, MIM: 607822<li>M->T at 139: in AD3, MIM: 607822<li>M->V at 139: in AD3, MIM: 607822<li>I->F at 143: in AD3, MIM: 607822<li>I->T at 143: in AD3, MIM: 607822<li>M->I at 146: in AD3, MIM: 607822<li>M->L at 146: in AD3, MIM: 607822<li>M->V at 146: in AD3, MIM: 607822<li>T->I at 147: in AD3, MIM: 607822<li>H->R at 163: in AD3, MIM: 607822<li>H->Y at 163: in AD3, MIM: 607822<li>W->C at 165: in AD3, MIM: 607822<li>L->P at 166: in AD3; onset in adolescence, MIM: 607822<li>S->L at 169: in AD3, MIM: 607822<li>S->P at 169: in AD3, MIM: 607822<li>L->P at 171: in AD3, MIM: 607822<li>L->W at 173: in AD3, MIM: 607822<li>L->M at 174: in AD3, MIM: 607822<li>F->L at 205: in dbSNP:rs1042864, MIM: 607822<li>G->A at 206: in AD3, MIM: 607822<li>G->R at 209: in AD3, MIM: 607822<li>G->V at 209: in AD3, MIM: 607822<li>I->T at 213: in AD3, MIM: 607822<li>L->P at 219: in AD3, MIM: 607822<li>A->T at 231: in AD3, MIM: 607822<li>A->V at 231: in AD3, MIM: 607822<li>M->L at 233: in AD3, MIM: 607822<li>M->T at 233: in AD3, MIM: 607822<li>L->P at 235: in A3D, MIM: 607822<li>A->E at 246: in AD3, MIM: 607822<li>L->S at 250: in AD3, MIM: 607822<li>A->V at 260: in AD3, MIM: 607822<li>L->F at 262: in AD3, MIM: 607822<li>C->R at 263: in AD3, MIM: 607822<li>P->L at 264: in AD3, MIM: 607822<li>G->S at 266: in AD3, MIM: 607822<li>P->S at 267: in AD3, MIM: 607822<li>P->T at 267: in AD3, MIM: 607822<li>R->G at 269: in AD3, MIM: 607822<li>R->H at 269: in AD3, MIM: 607822<li>L->V at 271: in AD3, MIM: 607822<li>R->T at 278: in AD3, MIM: 607822<li>E->A at 280: in AD3, MIM: 607822<li>E->G at 280: in AD3, MIM: 607822<li>L->R at 282: in AD3, MIM: 607822<li>A->V at 285: in AD3, MIM: 607822<li>L->V at 286: in AD3, MIM: 607822<li>S->C at 289: in AD3, MIM: 607822<li>E->G at 318: in dbSNP:rs17125721, MIM: 607822<li>G->E at 378: in AD3, MIM: 607822<li>G->A at 384: in AD3, MIM: 607822<li>S->I at 390: in AD3, MIM: 607822<li>L->V at 392: in AD3, MIM: 607822<li>N->S at 405: in AD3, MIM: 607822<li>A->T at 409: in AD3, MIM: 607822<li>C->Y at 410: in AD3: in dbSNP rsrs661, MIM: 607822<li>A->P at 426: in AD3, MIM: 607822<li>A->E at 431: in AD3, MIM: 607822<li>P->Q at 436: in AD3: in dbSNP rsrs28930977, MIM: 607822<li>P->S at 436: in AD3, MIM: 607822</ul>							<li>P03995</li><li>P49768</li><li>P14136</li><li>Q28115</li><li>P47819</li>	<li>Frontotemporal dementia [MIM:600274]</li><li>Alzheimer disease type 3 (AD3) [MIM:607822]</li>	<li>rs1042864</li><li>rs28930977</li><li>rs17125721</li><li>rs661</li>	2
P49770	8892	<ul><li>S->F at 171: in ovarioleukodystrophy, MIM: 603896<li>E->G at 213: in VWM and ovarioleukodystrophy, MIM: 603896<li>K->R at 273: in VWM, MIM: 603896<li>V->D at 316: in VWM, MIM: 603896<li>G->V at 329: in VWM, MIM: 603896</ul>								<li>Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]</li><li>Ovarioleukodystrophy [MIM:603896]</li>		2
P49788	5918	<ul><li>D->V at 158: in dbSNP:rs11919919</ul>									rs11919919	2
P49790	9972	<ul><li>D->N at 90: in dbSNP:rs16879902<li>I->V at 248: in dbSNP:rs2228375<li>N->K at 402: in dbSNP:rs6906499<li>P->L at 821: in dbSNP:rs6905654<li>A->T at 827: in dbSNP:rs2274136<li>T->A at 1388: in dbSNP:rs45475293</ul>									<li>rs6905654</li><li>rs45475293</li><li>rs2274136</li><li>rs6906499</li><li>rs2228375</li><li>rs16879902</li>	2
P49792	5903	<ul><li>V->L at 548: in dbSNP:rs1057954<li>E->K at 580: in dbSNP:rs4012065<li>C->Y at 581: in dbSNP:rs1057957<li>T->M at 585: associated with ANE1<li>T->I at 653: associated with ANE1<li>I->V at 656: associated with ANE1<li>S->G at 725: in dbSNP:rs17414315<li>R->K at 784: in dbSNP:rs2912838<li>P->L at 1870: in dbSNP:rs2889846<li>P->A at 1892: in dbSNP:rs12770<li>P->R at 1892: in dbSNP:rs12770</ul>									<li>rs17414315</li><li>rs4012065</li><li>rs1057954</li><li>rs12770</li><li>rs2912838</li><li>rs1057957</li><li>rs2889846</li>	2
P49796	5998	<ul><li>R->K at 129: in dbSNP:rs16933949</ul>									rs16933949	2
P49798	5999	<ul><li>A->S at 195: in dbSNP:rs14665</ul>									rs14665	2
P49810	5664	<ul><li>R->H at 62: in AD4: in dbSNP rsrs58973334, MIM: 606889<li>T->P at 122: in AD4, MIM: 606889<li>N->I at 141: in AD4; Volga German patients, MIM: 606889<li>V->I at 148: in AD4; LOAD; Spanish patients, MIM: 606889<li>M->I at 239: in AD4, MIM: 606889<li>M->V at 239: in AD4; Italian patients: in dbSNP rsrs28936379, MIM: 606889</ul>							P49810	Alzheimer disease type 4 (AD4) [MIM:606889]	<li>rs58973334</li><li>rs28936379</li>	2
P49815		<ul><li>T->P at 94<li>H->R at 137: in TSC; could be a polymorphism, MIM: 191100<li>L->V at 160, MIM: 191100<li>C->Y at 227: in TSC, MIM: 191100<li>K->N at 258: in TSC, MIM: 191100<li>R->P at 261: in TSC, MIM: 191100<li>R->W at 261, MIM: 191100<li>M->T at 286, MIM: 191100<li>M->V at 286: in dbSNP:rs1800748, MIM: 191100<li>L->P at 292: in TSC, MIM: 191100<li>G->E at 294: in TSC, MIM: 191100<li>W->WGMALW at 304: in TSC, MIM: 191100<li>L->Q at 309, MIM: 191100<li>F->L at 320: in TSC; could be a polymorphism characteristic to the Asian population, MIM: 191100<li>N->K at 331: in TSC, MIM: 191100<li>L->P at 361: in TSC, MIM: 191100<li>Missing  at 365: in TSC, MIM: 191100<li>R->Q at 367: in dbSNP:rs1800725, MIM: 191100<li>P->L at 378, MIM: 191100<li>Y->D at 407: in TSC, MIM: 191100<li>G->S at 440, MIM: 191100<li>M->I at 449: in TSC, MIM: 191100<li>I->V at 463, MIM: 191100<li>N->I at 486: in TSC, MIM: 191100<li>I->V at 490, MIM: 191100<li>N->S at 525: in TSC, MIM: 191100<li>A->V at 536, MIM: 191100<li>A->T at 583: in dbSNP:rs1800729, MIM: 191100<li>H->R at 593, MIM: 191100<li>K->M at 599: in TSC, MIM: 191100<li>A->T at 607, MIM: 191100<li>R->Q at 611: in TSC and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420, MIM: 191100<li>R->W at 611: in TSC; impairs phosphorylation at S-1387, S-1418 and S-1420, MIM: 191100<li>A->D at 614: in TSC, MIM: 191100<li>F->S at 615, MIM: 191100<li>D->N at 647: in TSC; could be a polymorphism, MIM: 191100<li>Missing  at 694: in TSC, MIM: 191100<li>C->Y at 696: in TSC, MIM: 191100<li>L->R at 717: in TSC, MIM: 191100<li>V->E at 769: in TSC; could be a polymorphism, MIM: 191100<li>P->L at 816: in TSC, MIM: 191100<li>L->M at 826: in TSC, MIM: 191100<li>A->V at 862, MIM: 191100<li>M->V at 895: in TSC, MIM: 191100<li>R->Q at 905: in TSC, MIM: 191100<li>R->W at 905: in TSC, MIM: 191100<li>V->M at 963: in TSC; could be a polymorphism, MIM: 191100<li>L->P at 1027: in TSC, MIM: 191100<li>D->E at 1084: in TSC, MIM: 191100<li>V->M at 1144: in TSC, MIM: 191100<li>R->W at 1200: in TSC, MIM: 191100<li>P->L at 1227: in TSC, MIM: 191100<li>R->W at 1240: in TSC, MIM: 191100<li>S->G at 1282, MIM: 191100<li>D->V at 1295: in TSC, MIM: 191100<li>P->S at 1315: in TSC, MIM: 191100<li>R->H at 1329: in TSC, MIM: 191100<li>S->R at 1341, MIM: 191100<li>A->S at 1429, MIM: 191100<li>P->R at 1450, MIM: 191100<li>P->R at 1497: in TSC, MIM: 191100<li>S->N at 1498: in TSC, MIM: 191100<li>Missing  at 1509: in TSC; could be a rare polymorphism, MIM: 191100<li>Y->C at 1549: in TSC, MIM: 191100<li>L->M at 1594: in TSC; could be a polymorphism, MIM: 191100<li>Missing  at 1614: in TSC, MIM: 191100<li>H->Y at 1620: in TSC, MIM: 191100<li>D->N at 1636, MIM: 191100<li>N->I at 1643: in TSC, MIM: 191100<li>N->K at 1643: in TSC, MIM: 191100<li>Y->C at 1650: in TSC, MIM: 191100<li>N->S at 1651: in TSC, MIM: 191100<li>S->F at 1653: in TSC, MIM: 191100<li>V->L at 1673, MIM: 191100<li>P->L at 1675: in TSC, MIM: 191100<li>N->K at 1681: in TSC, MIM: 191100<li>D->Y at 1690: in TSC, MIM: 191100<li>S->T at 1704: in TSC, MIM: 191100<li>P->L at 1709: in TSC, MIM: 191100<li>A->E at 1712: in TSC, MIM: 191100<li>R->P at 1743: in TSC, MIM: 191100<li>R->Q at 1743: in TSC, MIM: 191100<li>L->P at 1744: in TSC, MIM: 191100<li>Missing  at 1746-1751: in TSC, MIM: 191100<li>L->F at 1750: in TSC, MIM: 191100<li>H->P at 1773: in TSC, MIM: 191100<li>E->Q at 1783: in TSC, MIM: 191100<li>G->S at 1787, MIM: 191100<li>G->S at 1791, MIM: 191100</ul>	phosphorylation	GO:0016310					<li>Q92574</li><li>P55017</li><li>Q9XBQ8</li><li>O34676</li><li>Q9JKL5</li><li>Q96BS2</li><li>P55019</li>	<li>Lymphangioleiomyomatosis (LAM) [MIM:606690]</li><li>Tuberous sclerosis complex (TSC) [MIM:191100]</li>	<li>rs1800725</li><li>rs1800748</li><li>rs1800729</li>	2
P49821	4723	<ul><li>I->V at 76: in dbSNP:rs1800670<li>E->K at 214: in complex I deficiency<li>N->Y at 277: in dbSNP:rs1043770<li>A->V at 341: in mitochondrial complex I deficiency, MIM: 252010<li>T->M at 423: in LS, MIM: 256000</ul>							Q07842	<li>Leigh syndrome (LS) [MIM:256000]</li><li>Mitochondrial complex I deficiency [MIM:252010]</li>	<li>rs1800670</li><li>rs1043770</li>	2
P49840	2931	<ul><li>Q->E at 109: in dbSNP:rs35978177<li>L->F at 461: in dbSNP rsrs35454502</ul>									<li>rs35978177</li><li>rs35454502</li>	2
P49842	8859	<ul><li>A->D at 39: in dbSNP:rs34843142<li>D->N at 89: in a metastatic melanoma sample; somatic mutation<li>S->G at 311: in dbSNP:rs616634<li>A->V at 331: in dbSNP rsrs7743647</ul>									<li>rs7743647</li><li>rs34843142</li><li>rs616634</li>	2
P49848	6878	<ul><li>C->S at 36: in dbSNP:rs4134897</ul>									rs4134897	2
P49888	6783	<ul><li>D->Y at 22: in dbSNP:rs11569705</ul>									rs11569705	2
P49902	22978	<ul><li>T->A at 3: in dbSNP:rs10883841<li>Q->R at 136: in dbSNP:rs12262171</ul>									<li>rs12262171</li><li>rs10883841</li>	2
P49908	6414	<ul><li>P->S at 112: in dbSNP rsrs28919895<li>A->T at 234: in dbSNP:rs3877899<li>R->Q at 278: in dbSNP rsrs28919923<li>S->P at 314: in dbSNP rsrs28919925<li>R->C at 368: in dbSNP rsrs28919926</ul>									<li>rs28919895</li><li>rs28919925</li><li>rs28919926</li><li>rs3877899</li><li>rs28919923</li>	2
P49914	10588	<ul><li>T->A at 202: in dbSNP:rs8923</ul>									rs8923	2
P49916	3980	<ul><li>R->W at 137: in dbSNP:rs3744356<li>D->N at 630: in a colorectal cancer sample; somatic mutation<li>R->H at 780: in dbSNP:rs3136025<li>K->T at 811: in dbSNP:rs4986974<li>P->S at 899: in dbSNP:rs4986973</ul>									<li>rs4986974</li><li>rs4986973</li><li>rs3744356</li><li>rs3136025</li>	2
P49917	3981	<ul><li>A->V at 3: associated with resistance to multiple myeloma; dbSNP:rs1805389<li>T->I at 9: associated with resistance to multiple myeloma; dbSNP:rs1805388<li>D->H at 62: in dbSNP:rs3093763<li>P->S at 231: in dbSNP:rs3093765<li>R->H at 278: in LIG4 syndrome and leukemia; impairs activity, MIM: 606593<li>Missing  at 433: in RS-SCID, MIM: 606593<li>E->G at 461: in dbSNP:rs2232640, MIM: 606593<li>G->E at 469: in LIG4 syndrome, MIM: 606593<li>L->F at 539: in dbSNP:rs3742212, MIM: 606593<li>I->V at 658: in dbSNP:rs2232641, MIM: 606593<li>A->T at 857: in dbSNP:rs2232642, MIM: 606593</ul>							<li>Q08387</li><li>Q7X7E9</li><li>Q90YB1</li><li>P49917</li><li>Q9LL84</li>	LIG4 syndrome [MIM:606593]	<li>rs2232640</li><li>rs2232641</li><li>rs2232642</li><li>rs1805389</li><li>rs1805388</li><li>rs3742212</li><li>rs3093763</li><li>rs3093765</li>	2
P49918	1028	<ul><li>Missing  at 171-174: in several cancers<li>Missing  at 181-184: in hepatocellular carcinomas<li>Missing  at 200-203: in a bladder cancer<li>Missing  at 206-209: in a breast cancer</ul>										2
P49959	4361	<ul><li>S->C at 104: in cancer<li>N->S at 117: in ATLD, MIM: 604391<li>M->V at 157, MIM: 604391<li>F->C at 237: in a breast cancer sample; somatic mutation, MIM: 604391<li>H->Y at 302: in a breast cancer sample; somatic mutation, MIM: 604391<li>R->W at 305: in ovarian cancer, MIM: 604391<li>D->G at 468: in dbSNP:rs1805367, MIM: 604391<li>R->H at 503: in cancer, MIM: 604391<li>R->Q at 572: in cancer, MIM: 604391<li>M->V at 698: in dbSNP:rs1805362, MIM: 604391</ul>								Ataxia telangiectasia-like disorder (ATLD) [MIM:604391]	<li>rs1805362</li><li>rs1805367</li>	2
P49961	953	<ul><li>V->I at 293: in dbSNP:rs3793744</ul>									rs3793744	2
P50052	186	<ul><li>Y->H at 231: in dbSNP:rs3729977<li>R->K at 248: in dbSNP:rs5191<li>C->W at 268: in dbSNP:rs1042860</ul>									<li>rs5191</li><li>rs3729977</li><li>rs1042860</li>	2
P50053	3795	<ul><li>G->R at 40: in fructosuria, MIM: 229800<li>A->T at 43: in fructosuria, MIM: 229800<li>V->I at 49: in dbSNP:rs2304681, MIM: 229800<li>R->G at 159: either a polymorphism or a cloning artifact, MIM: 229800</ul>								Fructosuria [MIM:229800]	rs2304681	2
P50135	3176	<ul><li>T->I at 105: in dbSNP:rs1801105</ul>									rs1801105	2
P50219		<ul><li>R->G at 247: in Currarino syndrome, MIM: 176450<li>R->H at 247: in Currarino syndrome, MIM: 176450<li>T->S at 248: in Currarino syndrome, MIM: 176450<li>W->G at 290: in Currarino syndrome, MIM: 176450<li>W->L at 290: in Currarino syndrome, MIM: 176450<li>Q->P at 292: in Currarino syndrome, MIM: 176450<li>R->W at 294: in Currarino syndrome, MIM: 176450<li>R->Q at 295: in Currarino syndrome, MIM: 176450<li>R->W at 295: in Currarino syndrome, MIM: 176450</ul>								Currarino syndrome [MIM:176450]		2
P50221	4222	<ul><li>S->L at 27: in dbSNP:rs9898682</ul>									rs9898682	2
P50222	4223	<ul><li>Missing at 79-80<li>Missing at 80<li>I->L at 287: in dbSNP:rs2237493</ul>									rs2237493	2
P50225	6817	<ul><li>R->Q at 37<li>E->D at 151: in dbSNP:rs1042014<li>R->H at 213: in allele SULT1A1*2; common polymorphism; has a lower activity; dbSNP:rs9282861<li>M->V at 223: in dbSNP:rs1801030<li>N->T at 235: in dbSNP:rs1059491</ul>							<li>P52846</li><li>Q29476</li><li>P50225</li><li>P50227</li>		<li>rs9282861</li><li>rs1801030</li><li>rs1059491</li><li>rs1042014</li>	2
P50226		<ul><li>T->I at 7<li>T->N at 235</ul>										2
P50281	4323	<ul><li>A->T at 4: in dbSNP:rs17882219<li>R->K at 6: in dbSNP:rs17884647<li>S->P at 8: in dbSNP:rs1042703<li>I->V at 233: in dbSNP:rs17884841<li>D->N at 273: in dbSNP:rs1042704<li>R->W at 302: in dbSNP:rs17884719<li>M->I at 355: in dbSNP:rs17880989<li>R->H at 431: in dbSNP:rs3751489</ul>									<li>rs17884647</li><li>rs3751489</li><li>rs17882219</li><li>rs1042704</li><li>rs1042703</li><li>rs17884719</li><li>rs17884841</li><li>rs17880989</li>	2
P50336	5498	<ul><li>R->W at 59: in PV, MIM: 176200<li>R->C at 152: in PV, MIM: 176200<li>R->C at 168, MIM: 176200<li>G->R at 232: in PV, MIM: 176200<li>P->R at 256: in dbSNP:rs12735723, MIM: 176200<li>R->H at 304: in dbSNP:rs36013429, MIM: 176200</ul>							<li>P60168</li><li>Q9EMA9</li><li>P60167</li><li>P60169</li><li>P03422</li><li>P23055</li><li>Q00793</li><li>P19847</li><li>Q06427</li><li>Q06428</li><li>Q03335</li><li>P60166</li><li>P36315</li><li>P19717</li><li>P26033</li><li>P33483</li><li>Q03340</li><li>Q9WS39</li><li>P26036</li><li>P22044</li><li>P35939</li><li>P35974</li><li>Q9IC37</li><li>Q86606</li><li>P06940</li><li>P21740</li><li>P16595</li><li>P30928</li><li>P30927</li><li>P23056</li><li>Q9QM81</li><li>P11208</li><li>P23057</li><li>P11207</li><li>P35945</li><li>P35941</li><li>P21738</li><li>P21739</li><li>P16072</li>	Porphyria variegata (PV) [MIM:176200]	<li>rs36013429</li><li>rs12735723</li>	2
P50391	5540	<ul><li>A->S at 99: in dbSNP:rs2229967<li>R->C at 240: in dbSNP:rs3824733</ul>									<li>rs2229967</li><li>rs3824733</li>	2
P50402	2010	<ul><li>S->F at 54: in X-EDMD, MIM: 310300<li>Q->H at 133: in X-EDMD, MIM: 310300<li>D->H at 149: in dbSNP:rs2070818, MIM: 310300<li>P->H at 183: in X-EDMD, MIM: 310300<li>P->T at 183: in X-EDMD, MIM: 310300</ul>							P50402	X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) [MIM:310300]	rs2070818	2
P50416	1374	<ul><li>R->C at 123: in CPT-I deficiency, MIM: 255120<li>A->T at 275: in dbSNP:rs2229738, MIM: 255120<li>C->W at 304: in CPT-I deficiency, MIM: 255120<li>T->I at 314: in CPT-I deficiency, MIM: 255120<li>R->G at 316: in CPT-I deficiency, MIM: 255120<li>F->V at 343: in CPT-I deficiency, MIM: 255120<li>R->W at 357: in CPT-I deficiency; decreased stability, MIM: 255120<li>E->G at 360: in CPT-I deficiency; reduced protein levels: in dbSNP rsrs28936372, MIM: 255120<li>Missing  at 395: in CPT-I deficiency; loss of activity, MIM: 255120<li>A->V at 414: in CPT-I deficiency; decreased activity: in dbSNP rsrs28936373, MIM: 255120<li>D->G at 454: in CPT-I deficiency, MIM: 255120<li>G->W at 465: in CPT-I deficiency, MIM: 255120<li>P->L at 479: in CPT-I deficiency; decreased activity, MIM: 255120<li>L->P at 484: in CPT-I deficiency, MIM: 255120<li>Y->C at 498: in CPT-I deficiency; decreased activity, MIM: 255120<li>G->E at 709: in CPT-I deficiency; loss of activity: in dbSNP rsrs28936374, MIM: 255120<li>G->E at 710: in CPT-I deficiency; loss of activity, MIM: 255120</ul>							<li>P32198</li><li>Q924X2</li><li>Q58DK1</li><li>Q63704</li><li>P50416</li><li>Q92523</li><li>Q68Y62</li><li>P97742</li><li>Q8HY46</li>	Carnitine palmitoyltransferase I deficiency (CPT-I deficiency) [MIM:255120]	<li>rs28936373</li><li>rs28936374</li><li>rs28936372</li><li>rs2229738</li>	2
P50440	2628	<ul><li>Q->H at 110: in dbSNP:rs1288775</ul>									rs1288775	2
P50443	1836	<ul><li>G->E at 255: in AO2, MIM: 256050<li>R->W at 279: in AO2, MIM: 256050<li>Missing  at 340: in ACG1B, MIM: 256050<li>N->D at 425: in ACG1B, MIM: 600972<li>Q->P at 454: in diatrophic dysplasia; broad bone-platyspondylic variant, MIM: 600972<li>C->S at 653: in EDM4, MIM: 226900<li>G->V at 678: in ACG1B, MIM: 600972<li>T->S at 689: in dbSNP:rs3776070, MIM: 600972<li>A->V at 715: in AO2, MIM: 256050</ul>							Q7G191	<li>Achondrogenesis type 1B (ACG1B) [MIM:600972]</li><li>Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]</li><li>Atelosteogenesis type 2 (AO2) [MIM:256050]</li>	rs3776070	2
P50452	5271	<ul><li>R->Q at 68: in dbSNP:rs1944270<li>K->N at 158: in dbSNP:rs1648493<li>T->A at 304: in dbSNP:rs3169983<li>H->R at 359: in dbSNP:rs3826616</ul>									<li>rs3826616</li><li>rs1648493</li><li>rs3169983</li><li>rs1944270</li>	2
P50454	871	<ul><li>A->P at 41: in dbSNP:rs7105528</ul>									rs7105528	2
P50461	8048	<ul><li>W->R at 4: in CMD1M: in dbSNP rsrs45550635, MIM: 607482<li>L->P at 44: in CMH12, MIM: 612124<li>SE->RG at 54-55: in CMH12, MIM: 612124<li>C->G at 58: in CMH12, MIM: 612124</ul>								<li>Cardiomyopathy familial hypertrophic type 12 (CMH12) [MIM:612124]</li><li>Cardiomyopathy dilated type 1M (CMD1M) [MIM:607482]</li>	rs45550635	2
P50479	8572	<ul><li>R->G at 118: in dbSNP:rs17851430<li>R->C at 142: in dbSNP:rs1050805<li>V->I at 184: in dbSNP:rs175218<li>G->C at 259: in dbSNP:rs4877</ul>									<li>rs17851430</li><li>rs175218</li><li>rs1050805</li><li>rs4877</li>	2
P50502	6767	<ul><li>M->I at 297: in dbSNP:rs710193</ul>									rs710193	2
P50539	4601	<ul><li>E->A at 152: in prostate cancer</ul>										2
P50542	5830	<ul><li>N->K at 526: in NALD; strongly affects peroxisomal protein import, MIM: 202370<li>S->W at 600: in IRD; mildly affects peroxisomal protein import, MIM: 266510</ul>	protein import	GO:0017038						<li>Infantile Refsum disease (IRD) [MIM:266510]</li><li>Adrenoleukodystrophy neonatal (NALD) [MIM:202370]</li>		2
P50548	2077	<ul><li>R->H at 205: in dbSNP:rs1053655</ul>									rs1053655	2
P50549	2115	<ul><li>S->G at 100: in dbSNP:rs9639168</ul>									rs9639168	2
P50552	7408	<ul><li>A->T at 104: in dbSNP:rs10415373<li>Q->H at 140: in dbSNP:rs34345197</ul>									<li>rs34345197</li><li>rs10415373</li>	2
P50553	429	<ul><li>E->G at 158: in dbSNP:rs1803157</ul>									rs1803157	2
P50570	1785	<ul><li>P->L at 263: in dbSNP:rs3745674<li>E->K at 368: in ADCNM, MIM: 160150<li>R->Q at 369: in ADCNM, MIM: 160150<li>R->W at 369: in ADCNM; reduced association with the centrosome, MIM: 160150<li>R->W at 465: in ADCNM; reduced association with the centrosome, MIM: 160150<li>Missing  at 555-557: in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis, MIM: 160150<li>K->E at 562: in CMTDIB; with neutropenia, MIM: 606482<li>A->T at 618: in ADCNM; severe, MIM: 160150<li>S->L at 619: in ADCNM; severe, MIM: 160150<li>S->W at 619: in ADCNM; severe, MIM: 160150<li>Missing  at 625: in ADCNM; severe, MIM: 160150</ul>	receptor-mediated endocytosis	GO:0006898	binding	GO:0005488	<li>centrosome</li><li>membranes</li><li>microtubules</li>	<li>GO:0005813</li><li>GO:0016020</li><li>GO:0005874</li>		<li>Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]</li><li>Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]</li>	rs3745674	2
P50591	8743	<ul><li>V->I at 33: in dbSNP:rs6763816<li>D->E at 47: in dbSNP:rs16845759</ul>									<li>rs6763816</li><li>rs16845759</li>	2
P50613	1022	<ul><li>G->A at 163<li>T->M at 285: in dbSNP:rs34584424</ul>									rs34584424	2
P50616	10140	<ul><li>K->R at 319: in dbSNP:rs3316</ul>									rs3316	2
P50747	3141	<ul><li>E->D at 42: in HLCS deficiency and a breast cancer sample; somatic mutation; conserves enzynatic wild-type activity; could be a polymorphism, MIM: 253270<li>R->P at 183: in HLCS deficiency; has normal or low KM values for biotin , MIM: 253270<li>L->R at 216: in HLCS deficiency; has normal or low KM values for biotin : in dbSNP rsrs28934602, MIM: 253270<li>L->P at 237: in HLCS deficiency; has normal or low KM values for biotin , MIM: 253270<li>V->E at 333: in HLCS deficiency; <10% activity; has normal or low KM values for biotin , MIM: 253270<li>R->S at 360: in HLCS deficiency; 22% activity; shows elevated KM values for biotin , MIM: 253270<li>V->D at 363: in HLCS deficiency; has normal or low KM values for biotin , MIM: 253270<li>Y->C at 456: in HLCS deficiency; 0.2% activity, MIM: 253270<li>T->I at 462: in HLCS deficiency; <10% activity, MIM: 253270<li>L->S at 470: in HLCS deficiency; 4.3% activity, MIM: 253270<li>R->W at 508: in HLCS deficiency, MIM: 253270<li>N->K at 511: in HLCS deficiency, MIM: 253270<li>G->E at 518: in HLCS deficiency, MIM: 253270<li>V->G at 547: in HLCS deficiency; 3.4% activity, MIM: 253270<li>V->M at 550: in HLCS deficiency, MIM: 253270<li>D->N at 571: in HLCS deficiency; almost no activity, MIM: 253270<li>G->S at 581: in HLCS deficiency; <10% activity, MIM: 253270<li>G->R at 582: in HLCS deficiency, MIM: 253270<li>Missing  at 610: in HLCS deficiency; 14% of activity; shows elevated KM values for biotin , MIM: 253270<li>D->Y at 615: in HLCS deficiency, MIM: 253270<li>D->N at 634: in HLCS deficiency, MIM: 253270<li>D->Y at 634: in HLCS deficiency; 12% activity, MIM: 253270<li>D->G at 715: in HLCS deficiency, MIM: 253270</ul>							P50747	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	rs28934602	2
P50748	9735	<ul><li>K->N at 245: in dbSNP:rs7968222<li>E->D at 738: in dbSNP:rs17883249<li>T->M at 1506: in dbSNP:rs35315099<li>P->L at 1830: in dbSNP:rs7310898<li>V->G at 2021: in dbSNP:rs11837038</ul>									<li>rs7968222</li><li>rs11837038</li><li>rs17883249</li><li>rs7310898</li><li>rs35315099</li>	2
P50749	9770	<ul><li>R->H at 144: in a colorectal cancer sample; somatic mutation</ul>										2
P50750	1025	<ul><li>F->L at 59: in dbSNP rsrs55640715<li>G->A at 231</ul>									rs55640715	2
P50851	987	<ul><li>Q->H at 2038: in a breast cancer sample; somatic mutation<li>G->R at 2274: in a breast cancer sample; somatic mutation<li>T->K at 2701: in a breast cancer sample; somatic mutation<li>S->L at 2809: in dbSNP:rs2290846</ul>									rs2290846	2
P50876	9781	<ul><li>T->A at 4: in dbSNP:rs364891</ul>									rs364891	2
P50895	4059	<ul><li>R->H at 77: in dbSNP:rs28399653<li>V->I at 196: in dbSNP:rs28399654<li>M->K at 204: in dbSNP:rs28399656<li>R->H at 282: in dbSNP:rs9967601<li>V->I at 381: in dbSNP:rs28399626<li>K->Q at 451: in dbSNP rsrs28399630<li>T->A at 539: in dbSNP:rs1135062<li>Q->L at 581: in dbSNP:rs28399659</ul>									<li>rs1135062</li><li>rs28399630</li><li>rs28399654</li><li>rs28399626</li><li>rs28399653</li><li>rs28399656</li><li>rs9967601</li><li>rs28399659</li>	2
P50897	5538	<ul><li>H->Q at 39: in CLN1, MIM: 256730<li>G->E at 42: in CLN1, MIM: 256730<li>T->P at 75: in CLN1; juvenile onset, MIM: 256730<li>D->G at 79: in CLN1; juvenile onset, MIM: 256730<li>G->R at 108: in CLN4, MIM: 204300<li>Y->D at 109: in CLN1, MIM: 256730<li>R->W at 122: in CLN1; seems to results in intracellular accumulation of the enzyme, MIM: 256730<li>I->T at 134: in dbSNP:rs1800205, MIM: 256730<li>Q->E at 177: in CLN1, MIM: 256730<li>V->L at 181: in CLN1, MIM: 256730<li>V->M at 181: in CLN1, MIM: 256730<li>L->Q at 219: in CLN1; juvenile onset, MIM: 256730<li>Y->H at 247: in CLN1, MIM: 256730<li>G->V at 250: in CLN1, MIM: 256730</ul>					intracellular	GO:0005622	<li>P25693</li><li>P20437</li><li>P24866</li>	<li>Infantile neuronal ceroid lipofuscinosis 1 (CLN1) [MIM:256730]</li><li>Neuronal ceroid lipofuscinosis 4 (CLN4) [MIM:204300]</li>	rs1800205	2
P50914	9045	<ul><li>A->S at 138<li>Missing at 158-159<li>A->AA at 159<li>A->AAA at 159<li>A->AAAA at 159<li>A->AAAAA at 159<li>A->AAAAAA at 159<li>A->AAAAAAAA at 159</ul>										2
P50990	10694	<ul><li>H->Q at 4: in dbSNP:rs16983693<li>V->I at 409: in dbSNP:rs8129954</ul>									<li>rs8129954</li><li>rs16983693</li>	2
P50991	10575	<ul><li>I->V at 112: in dbSNP:rs2272428</ul>									rs2272428	2
P50993	477	<ul><li>T->N at 378: in AHC: in dbSNP rsrs28934002, MIM: 104290<li>R->Q at 689: in FHM2: in dbSNP rsrs28933401, MIM: 602481<li>M->T at 731: in FHM2: in dbSNP rsrs28933400, MIM: 602481<li>L->P at 764: in FHM2; loss of function: in dbSNP rsrs28933398, MIM: 602481<li>W->R at 887: in FHM2; loss of function: in dbSNP rsrs28933399, MIM: 602481</ul>							P51843	<li>Alternating hemiplegia of childhood (AHC) [MIM:104290]</li><li>Familial hemiplegic migraine 2 (FHM2) [MIM:602481]</li>	<li>rs28933398</li><li>rs28933399</li><li>rs28933401</li><li>rs28933400</li><li>rs28934002</li>	2
P50995	311	<ul><li>R->Q at 191: in dbSNP:rs2229554<li>R->C at 230: in dbSNP:rs1049550<li>I->V at 457: in dbSNP:rs1802932</ul>									<li>rs1802932</li><li>rs1049550</li><li>rs2229554</li>	2
P51114	8087	<ul><li>A->T at 233: in a breast cancer sample; somatic mutation<li>D->N at 429: in dbSNP:rs1051080<li>A->V at 614: in dbSNP:rs11499</ul>									<li>rs11499</li><li>rs1051080</li>	2
P51124	3004	<ul><li>G->R at 221: in dbSNP:rs1599882</ul>									rs1599882	2
P51148	5878	<ul><li>R->H at 40: in a colorectal cancer sample; somatic mutation</ul>										2
P51149	7879	<ul><li>K->E at 32: in dbSNP:rs11549759<li>L->F at 129: in CMT2B, MIM: 600882<li>K->N at 157: in CMT2B, MIM: 600882<li>N->T at 161: in CMT2B, MIM: 600882<li>V->M at 162: in CMT2B, MIM: 600882</ul>								Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	rs11549759	2
P51159	5873	<ul><li>T->S at 62: in dbSNP:rs1050930<li>W->G at 73: in GS2; does not affect GTP binding; cannot interact with MLPH: in dbSNP rsrs28938176, MIM: 607624<li>L->F at 84: in dbSNP:rs4340274, MIM: 607624<li>T->P at 85: in dbSNP:rs719705, MIM: 607624<li>L->P at 130: in GS2; strongly affects GTP binding; cannot interact with MLPH, MIM: 607624<li>A->P at 152: in GS2; may affect GTP binding; interferes with melanosome transport, MIM: 607624</ul>	transport	GO:0006810	GTP binding	GO:0005525	melanosome	GO:0042470	<li>P41247</li><li>O22506</li><li>Q43127</li><li>Q9BV36</li><li>Q9XQ94</li><li>P25462</li><li>P08281</li><li>Q42689</li><li>Q42624</li><li>P14655</li>	Griscelli syndrome type-2 (GS2) [MIM:607624]	<li>rs4340274</li><li>rs719705</li><li>rs1050930</li><li>rs28938176</li>	2
P51160	5146	<ul><li>D->E at 157: rare polymorphism<li>S->T at 270: in dbSNP:rs701865<li>E->A at 699: in dbSNP:rs12261131<li>K->N at 822: rare polymorphism<li>E->G at 834: rare polymorphism</ul>									<li>rs701865</li><li>rs12261131</li>	2
P51161	2172	<ul><li>R->H at 33: in dbSNP:rs17856662<li>S->Y at 55: in dbSNP:rs17852045<li>T->M at 79: in dbSNP:rs1130435</ul>									<li>rs1130435</li><li>rs17856662</li><li>rs17852045</li>	2
P51168	6338	<ul><li>G->S at 37: in PHA1, MIM: 264350<li>A->V at 311: in a colorectal cancer sample; somatic mutation, MIM: 264350<li>A->V at 314: in a breast cancer sample; somatic mutation, MIM: 264350<li>A->P at 336, MIM: 264350<li>L->V at 387: in a breast cancer sample; somatic mutation, MIM: 264350<li>V->M at 434, MIM: 264350<li>G->V at 442: in dbSNP:rs1799980, MIM: 264350<li>R->Q at 563: associated with hypertension in South African Black, MIM: 264350<li>G->S at 589, MIM: 264350<li>T->M at 594: in dbSNP:rs1799979, MIM: 264350<li>R->H at 597, MIM: 264350<li>P->L at 616: in Liddle syndrome, MIM: 177200<li>P->S at 616: in Liddle syndrome, MIM: 177200<li>P->S at 617: in Liddle syndrome, MIM: 177200<li>P->R at 618: in Liddle syndrome, MIM: 177200<li>Y->H at 620: in Liddle syndrome; constitutive channel activation, MIM: 177200<li>R->C at 624, MIM: 177200<li>E->G at 632, MIM: 177200</ul>								<li>Liddle syndrome [MIM:177200]</li><li>Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) [MIM:264350]</li>	<li>rs1799980</li><li>rs1799979</li>	2
P51170	6340	<ul><li>G->C at 49: in dbSNP:rs5733<li>G->R at 58: in a colorectal cancer sample; somatic mutation<li>R->W at 178<li>G->S at 183: in dbSNP:rs5736<li>E->K at 197: in dbSNP:rs5738<li>A->P at 502<li>A->S at 614</ul>									<li>rs5738</li><li>rs5733</li><li>rs5736</li>	2
P51172	6339	<ul><li>R->P at 180: in dbSNP:rs11260579<li>E->Q at 380: in dbSNP:rs2228579<li>A->T at 472: in dbSNP:rs13306651<li>C->Y at 532: in dbSNP:rs1053844<li>G->S at 562: in dbSNP:rs6690013<li>G->R at 606: in dbSNP:rs609805</ul>									<li>rs6690013</li><li>rs11260579</li><li>rs2228579</li><li>rs1053844</li><li>rs609805</li><li>rs13306651</li>	2
P51178	5333	<ul><li>R->H at 257: in dbSNP:rs933135</ul>									rs933135	2
P51451	640	<ul><li>T->I at 48: in dbSNP:rs35339715<li>A->T at 71: in a colorectal adenocarcinoma sample; somatic mutation: in dbSNP rsrs55758736</ul>									<li>rs55758736</li><li>rs35339715</li>	2
P51460	3640	<ul><li>A->G at 24<li>V->L at 43<li>P->S at 49: could be a rare polymorphism; identified in a male with undermasculinised genitalia and intra-abdominal testes<li>A->T at 60: common polymorphism; dbSNP:rs6523<li>P->L at 93: in cryptorchidism, MIM: 219050<li>R->C at 102: in cryptorchidism, MIM: 219050<li>R->H at 102, MIM: 219050<li>N->K at 110: in cryptorchidism, MIM: 219050</ul>								Cryptorchidism [MIM:219050]	rs6523	2
P51504	7634	<ul><li>R->H at 201: in dbSNP:rs6438191<li>D->A at 253: in dbSNP:rs3732782</ul>									<li>rs3732782</li><li>rs6438191</li>	2
P51508	347344	<ul><li>A->V at 3<li>G->V at 117: in dbSNP:rs17147793<li>N->S at 157: in dbSNP rsrs41312157<li>S->N at 179: in MRX45: in dbSNP rsrs28933691, MIM: 300498<li>S->L at 185, MIM: 300498<li>A->E at 213: in dbSNP:rs537825, MIM: 300498<li>I->V at 499, MIM: 300498</ul>								Mental retardation X-linked type 45 (MRX45) [MIM:300498]	<li>rs41312157</li><li>rs537825</li><li>rs28933691</li><li>rs17147793</li>	2
P51511	4324	<ul><li>L->P at 200: in dbSNP rsrs41340745<li>P->L at 350: in dbSNP rsrs41335851<li>D->G at 596: in dbSNP rsrs41504346<li>G->R at 609: in dbSNP:rs3743563<li>R->W at 622: in dbSNP:rs41434246</ul>									<li>rs41504346</li><li>rs41340745</li><li>rs3743563</li><li>rs41335851</li><li>rs41434246</li>	2
P51531	6595	<ul><li>G->A at 1416: in dbSNP:rs3793510<li>D->E at 1546: in dbSNP:rs2296212</ul>									<li>rs3793510</li><li>rs2296212</li>	2
P51532	6597	<ul><li>V->E at 561: in dbSNP:rs1804579<li>M->I at 1036: in dbSNP:rs1801514</ul>									<li>rs1804579</li><li>rs1801514</li>	2
P51570	2584	<ul><li>P->T at 28: in galactosemia II; founder Romani mutation, MIM: 230200<li>V->M at 32: in galactosemia II, MIM: 230200<li>G->R at 36: in galactosemia II, MIM: 230200<li>H->Y at 44: in galactosemia II, MIM: 230200<li>R->C at 68: in galactosemia II, MIM: 230200<li>I->M at 184, MIM: 230200<li>A->V at 198: in galactosemia II; mild deficiency; Osaka, MIM: 230200<li>R->Q at 239: in galactosemia II, MIM: 230200<li>G->D at 274, MIM: 230200<li>T->M at 288: in galactosemia II, MIM: 230200<li>V->A at 338, MIM: 230200<li>G->S at 346: in galactosemia II, MIM: 230200<li>G->S at 349: in galactosemia II, MIM: 230200<li>A->P at 384: in galactosemia II, MIM: 230200</ul>								Galactosemia II [MIM:230200]		2
P51575	5023	<ul><li>Missing  at 351: in bleeding disorder<li>M->V at 396: in dbSNP:rs34617528</ul>									rs34617528	2
P51580	7172	<ul><li>L->S at 49: allele TPMT*5<li>A->P at 80: in TPMT deficiency; allele TPMT*2; 100-fold reduction in activity; protein shows enhanced degradation; TPMT*2 allele frequency is 0.5%; seems to be restricted to the Caucasian population; dbSNP:rs1800462, MIM: 610460<li>A->T at 154: in TPMT deficiency; allele TPMT*3A and allele TPMT*3B; lower activity; protein shows enhanced degradation; TPMT*3A is most common mutant in American Caucasians; TPMT*3A allele frequencies are 4.5% in the Caucasian; 0.8% in the African Americans and 3.2% in the Caucasian Americans population; dbSNP:rs1800460, MIM: 610460<li>Q->H at 179: in dbSNP:rs6921269, MIM: 610460<li>Y->F at 180: allele TPMT*6, MIM: 610460<li>R->H at 215: in TPMT deficiency; allele TPMT*8; intermediate activity: in dbSNP rsrs56161402, MIM: 610460<li>H->Q at 227: in TPMT deficiency; allele TPMT*7, MIM: 610460<li>Y->C at 240: in TPMT deficiency; allele TPMT*3B and allele TPMT*3C; lower activity; protein shows enhanced degradation; TPMT*3C is the most common mutant in African-Americans and the only allele in the Japanese and Taiwanese individuals; TPMT*3C frequencies are 7.6% in Ghanaian and 0.3% in Caucasian individuals; dbSNP:rs1142345, MIM: 610460</ul>							<li>Q3BCR2</li><li>Q3BCR1</li><li>Q3BCR0</li><li>Q6EIC1</li><li>Q3BCR6</li><li>Q5RBJ3</li><li>Q3BCR5</li><li>Q3BCR4</li><li>Q3BCR3</li><li>Q3BCR9</li><li>Q3BCR8</li><li>Q3BCQ8</li><li>P51580</li><li>Q8HX86</li>	Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]	<li>rs1800462</li><li>rs1142345</li><li>rs56161402</li><li>rs6921269</li><li>rs1800460</li>	2
P51582	5030	<ul><li>V->M at 168: in dbSNP:rs1152186<li>N->T at 178: in dbSNP:rs1152187<li>P->L at 191: in dbSNP:rs1152188<li>S->A at 234: in dbSNP:rs3829709</ul>									<li>rs1152187</li><li>rs1152188</li><li>rs1152186</li><li>rs3829709</li>	2
P51587	675	<ul><li>G->R at 25: in BC; abolishes interaction with PALB2, MIM: 600185<li>W->C at 31: in BC; abolishes interaction with PALB2, MIM: 600185<li>W->R at 31: in BC; abolishes interaction with PALB2, MIM: 600185<li>F->L at 32: in BC, MIM: 600185<li>Y->C at 42: in BC and ovarian cancer; unknown pathological significance; dbSNP:rs4987046, MIM: 600185<li>K->R at 53: in BC, MIM: 600185<li>N->S at 60: in BC; unknown pathological significance, MIM: 600185<li>T->I at 64: in BC, MIM: 600185<li>A->P at 75: in ovarian cancer and renal cancer; could be a polymorphism; dbSNP:rs28897701, MIM: 600185<li>F->L at 81: in BC, MIM: 600185<li>N->H at 108, MIM: 600185<li>R->H at 118: in one patient with esophageal carcinoma, MIM: 600185<li>M->T at 192: in one patient with pancreatic cancer, MIM: 600185<li>P->R at 201: in BC, MIM: 600185<li>V->A at 211: in BC, MIM: 600185<li>P->S at 222: in BC, MIM: 600185<li>T->A at 225: in one patient with BC; normal RNA expression and splicing, MIM: 600185<li>N->H at 289: common polymorphism; was originally thought to be linked to ovarian cancer; dbSNP:rs766173, MIM: 600185<li>C->S at 315: in one patient with esophageal carcinoma, MIM: 600185<li>K->Q at 322: in dbSNP:rs11571640, MIM: 600185<li>S->R at 326: in BC; dbSNP:rs28897706, MIM: 600185<li>K->E at 327: in BC; could be a polymorphism, MIM: 600185<li>V->L at 355: in lung cancer, MIM: 600185<li>H->N at 372: common polymorphism; associated with an increased risk of breast cancer and with an effect on prenatal viability with increased fitness of males and decreased fitness of females; dbSNP:rs144848, MIM: 600185<li>G->R at 405: in BC; unknown pathological significance, MIM: 600185<li>T->I at 431: in BC; unknown pathological significance, MIM: 600185<li>R->H at 448: in BC; unknown pathological significance, MIM: 600185<li>E->G at 462: in BC; unknown pathological significance: in dbSNP rsrs56403624, MIM: 600185<li>I->T at 505: in BC; dbSNP:rs28897708, MIM: 600185<li>C->W at 554: in BC and pancreas cancer, MIM: 600185<li>T->P at 582, MIM: 600185<li>T->A at 598: in dbSNP:rs28897710, MIM: 600185<li>S->F at 599: in dbSNP:rs1046984, MIM: 600185<li>L->R at 613: in BC; unknown pathological significance, MIM: 600185<li>T->I at 630: in ovarian cancer, MIM: 600185<li>D->Y at 707, MIM: 600185<li>D->A at 728: in BC, MIM: 600185<li>I->M at 729: in BC, MIM: 600185<li>M->V at 784: in dbSNP:rs11571653, MIM: 600185<li>N->I at 886, MIM: 600185<li>L->S at 929: in dbSNP:rs2227943, MIM: 600185<li>D->N at 935: in BC; could be a polymorphism; dbSNP:rs28897716, MIM: 600185<li>S->F at 976: in dbSNP:rs11571656, MIM: 600185<li>N->I at 987: in dbSNP:rs2227944, MIM: 600185<li>N->D at 991: common polymorphism; dbSNP:rs1799944, MIM: 600185<li>E->K at 1036: in BC; unknown pathological significance, MIM: 600185<li>S->R at 1106: in BC; unknown pathological significance, MIM: 600185<li>N->S at 1147: in dbSNP:rs1799951, MIM: 600185<li>S->L at 1172: in BC; unknown pathological significance, MIM: 600185<li>S->N at 1179: in BC, MIM: 600185<li>N->S at 1279, MIM: 600185<li>Missing at 1286, MIM: 600185<li>C->Y at 1290: in dbSNP rsrs41293485, MIM: 600185<li>Missing  at 1302: in BC, MIM: 600185<li>T->M at 1414, MIM: 600185<li>D->Y at 1420: in dbSNP rsrs28897727, MIM: 600185<li>K->T at 1445: in BC; unknown pathological significance, MIM: 600185<li>D->N at 1513, MIM: 600185<li>L->F at 1522: in one patient with BC, MIM: 600185<li>F->V at 1524: in BC; unknown pathological significance: in dbSNP rsrs56386506, MIM: 600185<li>G->R at 1529: in bladder cancer: in dbSNP rsrs28897728, MIM: 600185<li>H->N at 1561: in dbSNP rsrs2219594, MIM: 600185<li>C->Y at 1580: in BC; somatic mutation, MIM: 600185<li>E->D at 1593, MIM: 600185<li>T->I at 1679: in BC, MIM: 600185<li>K->N at 1690: in BC: in dbSNP rsrs56087561, MIM: 600185<li>N->Y at 1730: in BC, MIM: 600185<li>G->D at 1771: in BC; unknown pathological significance, MIM: 600185<li>V->A at 1804: in BC, MIM: 600185<li>N->S at 1805, MIM: 600185<li>N->K at 1880: polymorphism; was originally thought to be linked to breast cancer: in dbSNP rsrs11571657, MIM: 600185<li>T->M at 1887: in BC, MIM: 600185<li>E->K at 1901: in BC, MIM: 600185<li>D->N at 1902: in dbSNP rsrs4987048, MIM: 600185<li>T->M at 1915: may be a rare polymorphism; somatic mutation: in dbSNP rsrs4987117, MIM: 600185<li>I->V at 1929: in BC; unknown pathological significance, MIM: 600185<li>V->I at 1988: in one patient with esophageal carcinoma; somatic mutation: in dbSNP rsrs28897739, MIM: 600185<li>T->A at 2031: in BC; unknown pathological significance, MIM: 600185<li>R->C at 2034: in dbSNP:rs1799954, MIM: 600185<li>G->V at 2044: in one patient with BC: in dbSNP rsrs56191579, MIM: 600185<li>S->C at 2072: in BC, MIM: 600185<li>H->N at 2074: in dbSNP rsrs34309943, MIM: 600185<li>E->D at 2089: in BC, MIM: 600185<li>Y->C at 2094: in BC, MIM: 600185<li>P->L at 2096: in BC, MIM: 600185<li>R->C at 2108: in dbSNP rsrs55794205, MIM: 600185<li>V->L at 2118: in BC; unknown pathological significance, MIM: 600185<li>K->N at 2128: in BC, MIM: 600185<li>N->H at 2135: in BC, MIM: 600185<li>V->F at 2138: in dbSNP rsrs11571659, MIM: 600185<li>K->R at 2162: in dbSNP rsrs11571660, MIM: 600185<li>Y->C at 2222: in BC, MIM: 600185<li>G->V at 2274: in BC: in dbSNP rsrs55712212, MIM: 600185<li>E->G at 2275: in BC; unknown pathological significance, MIM: 600185<li>F->L at 2293: in BC; unknown pathological significance, MIM: 600185<li>R->H at 2336: in FANCD1, MIM: 605724<li>G->R at 2353: in BC; unknown pathological significance, MIM: 600185<li>H->N at 2415: in BC, MIM: 600185<li>Q->H at 2421: in BC, MIM: 600185<li>H->R at 2440: in dbSNP rsrs4986860, MIM: 600185<li>Q->E at 2456: in BC, MIM: 600185<li>A->V at 2466: polymorphism; was originally thought to be linked to ovarian cancer: in dbSNP rsrs169547, MIM: 600185<li>L->V at 2480, MIM: 600185<li>R->K at 2488: in BC; unknown pathological significance, MIM: 600185<li>I->T at 2490: in dbSNP rsrs11571707, MIM: 600185<li>R->H at 2502: in ovarian cancer; could be a polymorphism, MIM: 600185<li>L->P at 2510: in FANCD1, MIM: 605724<li>T->I at 2515: in BC; could be a polymorphism: in dbSNP rsrs28897744, MIM: 600185<li>W->C at 2626: in FANCD1, MIM: 605724<li>N->S at 2706, MIM: 605724<li>T->R at 2722: in BC, MIM: 600185<li>D->H at 2723: in BC; unknown pathological significance: in dbSNP rsrs41293511, MIM: 600185<li>V->I at 2728: in BC: in dbSNP rsrs28897749, MIM: 600185<li>K->N at 2729: in BC, MIM: 600185<li>R->H at 2787: in ovarian cancer; somatic mutation, MIM: 600185<li>G->R at 2793: in BC; unknown pathological significance, MIM: 600185<li>S->P at 2835: in dbSNP rsrs11571746, MIM: 600185<li>R->C at 2842: in one patient with esophageal carcinoma; somatic mutation, MIM: 600185<li>E->A at 2856: in dbSNP rsrs11571747, MIM: 600185<li>I->F at 2944: in dbSNP rsrs4987047, MIM: 600185<li>K->N at 2950: in BC; unknown pathological significance: in dbSNP rsrs28897754, MIM: 600185<li>A->T at 2951: in dbSNP rsrs11571769, MIM: 600185<li>V->M at 2969: in dbSNP rsrs59004709, MIM: 600185<li>T->I at 3013: in BC; unknown pathological significance: in dbSNP rsrs28897755, MIM: 600185<li>P->S at 3063: in a patient with ovarian cancer; unknown pathological significance, MIM: 600185<li>G->E at 3076, MIM: 600185<li>D->E at 3095, MIM: 600185<li>Y->H at 3098: in BC and ovarian cancer; could be a polymorphism: in dbSNP rsrs41293521, MIM: 600185<li>I->M at 3103: in melanoma, MIM: 600185<li>M->T at 3118: in BC: in dbSNP rsrs56204128, MIM: 600185<li>N->I at 3124: in BC: in dbSNP rsrs28897759, MIM: 600185<li>K->E at 3196: in BC, MIM: 600185<li>V->I at 3244: in dbSNP rsrs11571831, MIM: 600185<li>K->R at 3257: in dbSNP rsrs55847618, MIM: 600185<li>R->S at 3276, MIM: 600185<li>P->S at 3300: in one patient with esophageal carcinoma, MIM: 600185<li>T->R at 3357: in BC, MIM: 600185<li>T->I at 3374: in dbSNP rsrs56309455, MIM: 600185<li>I->V at 3412: polymorphism; was originally thought to be associated with breast cancer; dbSNP:rs1801426, MIM: 600185</ul>							<li>P51587</li><li>Q864S8</li><li>Q86YC2</li>	<li>Breast cancer (BC) [MIM:600185, 114480]</li><li>Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]</li>	<li>rs55794205</li><li>rs1046984</li><li>rs1799944</li><li>rs11571831</li><li>rs28897739</li><li>rs11571769</li><li>rs56309455</li><li>rs56204128</li><li>rs41293511</li><li>rs2219594</li><li>rs11571660</li><li>rs34309943</li><li>rs28897706</li><li>rs144848</li><li>rs28897701</li><li>rs1799954</li><li>rs28897749</li><li>rs28897744</li><li>rs11571657</li><li>rs11571656</li><li>rs55712212</li><li>rs11571659</li><li>rs1799951</li><li>rs56087561</li><li>rs41293521</li><li>rs11571653</li><li>rs28897708</li><li>rs11571707</li><li>rs1801426</li><li>rs56386506</li><li>rs28897710</li><li>rs56191579</li><li>rs169547</li><li>rs28897716</li><li>rs59004709</li><li>rs4986860</li><li>rs11571640</li><li>rs11571746</li><li>rs28897755</li><li>rs2227944</li><li>rs11571747</li><li>rs2227943</li><li>rs28897759</li><li>rs28897754</li><li>rs55847618</li><li>rs28897728</li><li>rs28897727</li><li>rs4987048</li><li>rs4987047</li><li>rs4987046</li><li>rs766173</li><li>rs4987117</li><li>rs41293485</li><li>rs56403624</li>	2
P51589	1573	<ul><li>R->S at 49: in dbSNP:rs11572190<li>V->M at 113: in dbSNP:rs11572242<li>N->S at 124: in dbSNP:rs2228113<li>T->A at 143: in allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid: in dbSNP rsrs55753213<li>R->C at 158: in allele CYP2J2*3; significantly reduced metabolism of both arachidonic acid and linoleic acid: in dbSNP rsrs56307989<li>I->N at 192: in allele CYP2J2*4; significantly reduced metabolism of arachidonic acid only<li>D->N at 342: in allele CYP2J2*5; no change in activity: in dbSNP rsrs56053398<li>N->Y at 404: in allele CYP2J2*6; significantly reduced metabolism of both arachidonic acid and linoleic acid</ul>							P51589		<li>rs56053398</li><li>rs56307989</li><li>rs2228113</li><li>rs11572190</li><li>rs11572242</li><li>rs55753213</li>	2
P51606		<ul><li>Q->R at 159: in dbSNP:rs2229241<li>D->G at 274: in dbSNP:rs2269371</ul>									<li>rs2229241</li><li>rs2269371</li>	2
P51608	4204	<ul><li>E->Q at 10: in RTT, MIM: 312750<li>S->C at 86, MIM: 312750<li>D->E at 97: in RTT, MIM: 312750<li>D->Y at 97: in RTT, MIM: 312750<li>L->R at 100: in RTT, MIM: 312750<li>L->V at 100: in RTT; dbSBP:rs28935168, MIM: 312750<li>P->H at 101: in RTT, MIM: 312750<li>P->L at 101: in RTT, MIM: 312750<li>P->R at 101: in RTT; also in a patient with Angelman syndrome and some typical RTT features, MIM: 312750<li>P->S at 101: in RTT, MIM: 312750<li>P->T at 101: in RTT, MIM: 312750<li>R->Q at 106: in RTT, MIM: 312750<li>R->W at 106: in RTT; dbSNP:rs28934907, MIM: 312750<li>R->G at 111: in RTT, MIM: 312750<li>Y->D at 120: in RTT, MIM: 312750<li>L->F at 124: in RTT, MIM: 312750<li>Q->P at 128: in RTT, MIM: 312750<li>R->C at 133: in RTT: in dbSNP rsrs28934904, MIM: 312750<li>R->H at 133: in RTT, MIM: 312750<li>S->C at 134: in RTT: in dbSNP rsrs61748390, MIM: 312750<li>K->E at 135: in RTT: in dbSNP rsrs61748391, MIM: 312750<li>E->G at 137: in MRXS13, MIM: 300055<li>A->V at 140: in MRXS13; dbSNP:rs28934908, MIM: 300055<li>P->R at 152: in RTT: in dbSNP rsrs61748404, MIM: 312750<li>F->I at 155: in RTT, MIM: 312750<li>F->S at 155: in RTT; dbSNP:rs28934905, MIM: 312750<li>D->G at 156: in RTT, MIM: 312750<li>T->A at 158: in RTT, MIM: 312750<li>T->M at 158: in RTT; dbSNP:rs28934906, MIM: 312750<li>G->V at 161: in RTT, MIM: 312750<li>R->W at 167: in MRXS13, MIM: 300055<li>A->V at 181, MIM: 300055<li>T->S at 196: in dbSNP rsrs61749713, MIM: 300055<li>T->M at 197, MIM: 300055<li>A->V at 201, MIM: 300055<li>T->M at 203, MIM: 300055<li>K->I at 210: in RTT, MIM: 312750<li>P->L at 225: in MRXS13, MIM: 300055<li>P->R at 225: in RTT: in dbSNP rsrs61749715, MIM: 312750<li>T->S at 228, MIM: 312750<li>S->L at 229: in dbSNP rsrs61749739, MIM: 312750<li>G->A at 232, MIM: 312750<li>P->L at 251, MIM: 312750<li>K->E at 284: in MRXS13, MIM: 300055<li>A->P at 287, MIM: 300055<li>S->A at 291, MIM: 300055<li>P->A at 302: in RTT: in dbSNP rsrs61751373, MIM: 312750<li>P->H at 302: in RTT, MIM: 312750<li>P->L at 302: in RTT, MIM: 312750<li>P->R at 302: in RTT, MIM: 312750<li>K->R at 305: in RTT, MIM: 312750<li>R->C at 306: in RTT; dbSNP:rs28935468, MIM: 312750<li>R->H at 306: in RTT, MIM: 312750<li>P->A at 322: in RTT, MIM: 312750<li>P->L at 322: in RTT, MIM: 312750<li>P->S at 322: in MRXS13, MIM: 300055<li>R->W at 344: in RTT, MIM: 312750<li>S->P at 359, MIM: 312750<li>P->S at 376: in a RTT patient; could be a polymorphism, MIM: 312750<li>P->L at 388, MIM: 312750<li>P->S at 388: in a RTT patient: in dbSNP rsrs61753000, MIM: 312750<li>Missing at 388, MIM: 312750<li>E->K at 394, MIM: 312750<li>E->K at 397: in dbSNP rsrs56268439,rs61748412, MIM: 312750<li>P->L at 399: in MRXS13; could be a rare polymorphism, MIM: 300055<li>P->L at 402, MIM: 300055<li>V->I at 412, MIM: 300055<li>G->S at 428: in neonatal severe encephalopathy due to MECP2 mutations; could be a rare polymorphism, MIM: 300673<li>A->T at 439, MIM: 300673<li>A->T at 444, MIM: 300673<li>R->Q at 453: in MRXS13, MIM: 300055<li>P->S at 480, MIM: 300055</ul>							<li>P51608</li><li>Q95LG8</li>	<li>Rett syndrome (RTT) [MIM:312750]</li><li>Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]</li><li>Neonatal severe encephalopathy due to MECP2 mutations [MIM:300673]</li>	<li>rs61749713</li><li>rs61748404</li><li>rs61749715</li><li>rs56268439</li><li>rs61751373</li><li>rs61748412</li><li>rs28935468</li><li>rs61753000</li><li>rs28934905</li><li>rs28934904</li><li>rs61748391</li><li>rs61748390</li><li>rs28934908</li><li>rs28935168</li><li>rs28934907</li><li>rs28934906</li><li>rs61749739</li>	2
P51610	3054	<ul><li>S->P at 1164: in dbSNP:rs1051152<li>S->I at 2004: in dbSNP:rs6643651</ul>									<li>rs6643651</li><li>rs1051152</li>	2
P51617	3654	<ul><li>R->H at 194: in dbSNP:rs11465830<li>F->S at 196: in dbSNP:rs1059702<li>C->S at 203: in dbSNP:rs10127175<li>T->M at 398: in dbSNP rsrs56340948<li>V->M at 412: in a glioblastoma multiforme sample; somatic mutation<li>Q->H at 421: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>S->L at 532: in dbSNP:rs1059703<li>G->S at 619: in dbSNP rsrs34112487<li>T->M at 625: in dbSNP rsrs35638718<li>R->W at 638: in dbSNP rsrs56082801<li>S->G at 690: in a lung adenocarcinoma sample; somatic mutation</ul>									<li>rs56340948</li><li>rs1059702</li><li>rs1059703</li><li>rs56082801</li><li>rs34112487</li><li>rs10127175</li><li>rs11465830</li><li>rs35638718</li>	2
P51636	858	<ul><li>Q->E at 130: in dbSNP:rs8940</ul>									rs8940	2
P51648	224	<ul><li>I->F at 45: in SLS; severe loss of activity, MIM: 270200<li>V->D at 64: in SLS; severe loss of activity, MIM: 270200<li>L->R at 106: in SLS; severe loss of activity, MIM: 270200<li>P->L at 114: in SLS; severe loss of activity, MIM: 270200<li>P->L at 121: in SLS; severe loss of activity, MIM: 270200<li>T->M at 184: in SLS; severe loss of activity, MIM: 270200<li>T->R at 184: in SLS; severe loss of activity, MIM: 270200<li>G->A at 185: in SLS; severe loss of activity, MIM: 270200<li>C->Y at 214: in SLS; 4% of activity, MIM: 270200<li>C->W at 226: in SLS, MIM: 270200<li>R->C at 228: in SLS; severe loss of activity, MIM: 270200<li>C->Y at 237: in SLS; severe loss of activity, MIM: 270200<li>D->N at 245: in SLS; severe loss of activity; originally thought to be a neutral polymorphism, MIM: 270200<li>K->N at 266: in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability, MIM: 270200<li>Y->N at 279: in SLS; severe loss of activity, MIM: 270200<li>AP->GAKSTVGA at 314-315: in SLS; 8% of activity, MIM: 270200<li>P->S at 315: in SLS; common mutation in Europeans; severe loss of enzymatic activity, MIM: 270200<li>M->I at 328: in SLS, MIM: 270200<li>S->L at 365: in SLS; severe loss of activity, MIM: 270200<li>N->S at 386: in SLS, MIM: 270200<li>G->R at 406: in SLS, MIM: 270200<li>H->Y at 411: in SLS; severe loss of activity, MIM: 270200<li>G->R at 412: in SLS, MIM: 270200<li>S->N at 415: in SLS; severe loss of activity, MIM: 270200<li>F->S at 419: in SLS; severe loss of activity, MIM: 270200<li>R->H at 423: in SLS; severe loss of activity, MIM: 270200<li>K->E at 447: in SLS; severe loss of activity, MIM: 270200</ul>							Q05047	Sjoegren-Larsson syndrome (SLS) [MIM:270200]		2
P51649	7915	<ul><li>G->R at 36: 87% of activity: in dbSNP rsrs4646832<li>C->F at 93: in SSADH deficiency; 3% of activity, MIM: 271980<li>G->R at 176: in SSADH deficiency; <1% of activity, MIM: 271980<li>H->Y at 180: 83% of activity; dbSNP:rs2760118, MIM: 271980<li>P->L at 182: 48% of activity; dbSNP:rs3765310, MIM: 271980<li>C->Y at 223: in SSADH deficiency; 5% of activity, MIM: 271980<li>T->M at 233: in SSADH deficiency; 4% of activity, MIM: 271980<li>A->S at 237: 65% of activity, MIM: 271980<li>N->S at 255: in SSADH deficiency; 17% of activity, MIM: 271980<li>G->E at 268: in SSADH deficiency; <1% of activity, MIM: 271980<li>N->K at 335: in SSADH deficiency; 1% of activity, MIM: 271980<li>P->L at 382: in SSADH deficiency; 2% of activity, MIM: 271980<li>P->Q at 382: in SSADH deficiency, MIM: 271980<li>V->I at 406, MIM: 271980<li>G->D at 409: in SSADH deficiency; <1% of activity, MIM: 271980<li>V->E at 487: in SSADH deficiency, MIM: 271980<li>G->R at 533: in SSADH deficiency; <1% of activity, MIM: 271980</ul>							P51649	Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	<li>rs4646832</li><li>rs2760118</li><li>rs3765310</li>	2
P51654	2719	<ul><li>W->R at 296: in SGBS, MIM: 312870</ul>								Simpson-Golabi-Behmel syndrome (SGBS) [MIM:312870]		2
P51659	3295	<ul><li>G->S at 16: in DBPD, MIM: 261515<li>F->L at 90: in dbSNP:rs28943588, MIM: 261515<li>R->H at 106: in dbSNP:rs25640, MIM: 261515<li>K->N at 140: in dbSNP:rs28943589, MIM: 261515<li>T->S at 292: in dbSNP:rs1143650, MIM: 261515<li>A->V at 427: in dbSNP:rs28943590, MIM: 261515<li>A->T at 491: in dbSNP:rs28943591, MIM: 261515<li>W->R at 511: in dbSNP:rs11539471, MIM: 261515<li>I->V at 559: in dbSNP:rs11205, MIM: 261515<li>A->S at 606: in dbSNP:rs15228, MIM: 261515<li>T->I at 687: in dbSNP:rs28943592, MIM: 261515<li>M->V at 728: in dbSNP:rs28943594, MIM: 261515</ul>								D-bifunctional protein deficiency (DBPD) [MIM:261515]	<li>rs28943594</li><li>rs11539471</li><li>rs28943592</li><li>rs11205</li><li>rs1143650</li><li>rs28943591</li><li>rs28943590</li><li>rs15228</li><li>rs25640</li><li>rs28943588</li><li>rs28943589</li>	2
P51671	6356	<ul><li>L->P at 7: in clone 34<li>A->T at 23: in clone 53; dbSNP:rs1129844<li>R->S at 51: in clone 34<li>K->R at 79: in clone 53<li>K->T at 86: in dbSNP:rs34262946</ul>									<li>rs1129844</li><li>rs34262946</li>	2
P51674	2823	<ul><li>V->L at 242: in dbSNP:rs1049820</ul>									rs1049820	2
P51677	1232	<ul><li>G->D at 21: in dbSNP:rs4987125<li>P->L at 39: in dbSNP:rs5742906<li>C->S at 218: polymorphism found in about 7% of the population; may show reduced activity</ul>									<li>rs5742906</li><li>rs4987125</li>	2
P51679	1233	<ul><li>L->V at 130<li>C->S at 178</ul>										2
P51681	1234	<ul><li>Y->D at 10: in INCCR5-71A) <li>I->L at 12<li>C->S at 20<li>A->S at 29: in dbSNP:rs1800939<li>R->H at 31: in INCCR5-72A: in dbSNP rsrs56340326<li>P->L at 34: in TZCCR5-179<li>I->F at 42<li>L->Q at 55: in dbSNP:rs1799863<li>R->S at 60: associated with susceptibility to HIV-1; reduced surface expression and function of CCR5 protein; dbSNP:rs1800940<li>K->R at 62: in UGCCR5-145B<li>Y->H at 68: in ZWCCR5-7<li>A->V at 73: in dbSNP rsrs56198941<li>D->N at 95: in MWCCR5-107<li>G->E at 97: in INCCR5-467<li>L->P at 122: in ZWCCR5-7<li>F->S at 158: in UGCCR5-145A<li>Y->C at 176: in KECCR5-116<li>T->A at 177: in INCCR5-45C<li>C->R at 178: found in a HIV-resistant individiual<li>S->N at 185: in UGCCR5-145A<li>M->V at 210: in ZWCCR5-7<li>Y->C at 214: in KECCR5-3B<li>S->L at 215<li>R->Q at 223: in dbSNP:rs1800452<li>Missing at 228<li>T->S at 239: in INCCR5-71A<li>L->P at 246: in UGCCR5-145A<li>T->M at 288: in INCCR5-72A<li>G->V at 301: in dbSNP:rs1800943<li>E->G at 302: in TZCCR5-179<li>K->E at 303: in THCCR5-5<li>N->S at 306: in MWCCR5-1567<li>K->R at 322: in THCCR5-5<li>E->G at 333: in THCCR5-2<li>A->V at 335: in MWCCR5-1567, MWCCR5-1568, ZWCCR5-14 and ZWCCR5-112; dbSNP:rs1800944<li>Y->F at 339: in TZCCR5-181A and MWCCR5-107; dbSNP:rs1800945<li>E->G at 345: in UGCCR5-145C</ul>							<li>Q2HJ17</li><li>O97975</li><li>Q71UI8</li><li>P56493</li><li>O97882</li><li>O97881</li><li>O97883</li><li>Q95ND2</li><li>Q95ND1</li><li>O97880</li><li>Q95ND0</li><li>Q9BGN6</li><li>P60574</li><li>Q95NC2</li><li>Q95NC3</li><li>Q95NC4</li><li>Q95NC5</li><li>Q95NC6</li><li>Q95NC7</li><li>Q95NC8</li><li>P56440</li><li>Q95NC9</li><li>Q6WN98</li><li>Q95NC1</li><li>Q95NC0</li><li>O62743</li><li>P56439</li><li>O97879</li><li>O97878</li><li>P68270</li><li>P61813</li><li>P61815</li><li>P61814</li><li>P68269</li><li>Q8HZT9</li><li>Q9TV43</li><li>Q9TV42</li><li>Q9TV45</li><li>O97962</li><li>Q9TV47</li><li>Q9XT76</li><li>Q9TV49</li><li>Q9TV48</li><li>Q1ZY22</li><li>Q95NE8</li><li>Q5ECR9</li><li>P61755</li><li>P51681</li><li>P61756</li><li>P61757</li>		<li>rs1800944</li><li>rs1800939</li><li>rs1800943</li><li>rs1800945</li><li>rs1800452</li><li>rs56198941</li><li>rs1800940</li><li>rs56340326</li><li>rs1799863</li>	2
P51685	1237	<ul><li>A->G at 27: in dbSNP:rs2853699</ul>									rs2853699	2
P51686	10803	<ul><li>I->V at 92: in dbSNP:rs45530037<li>M->V at 284: in dbSNP:rs12721497</ul>									<li>rs12721497</li><li>rs45530037</li>	2
P51687	6821	<ul><li>R->Q at 217: in ISOD; 2% of activity, MIM: 272300<li>I->L at 258: in ISOD, MIM: 272300<li>A->D at 265: in ISOD, MIM: 272300<li>R->Q at 268: in ISOD, MIM: 272300<li>G->S at 362: in ISOD, MIM: 272300<li>R->H at 366: in ISOD, MIM: 272300<li>K->R at 379: in ISOD, MIM: 272300<li>Q->R at 396: in ISOD, MIM: 272300<li>S->Y at 427: in ISOD, MIM: 272300<li>W->R at 450: in ISOD, MIM: 272300<li>G->D at 530: in ISOD, MIM: 272300</ul>								Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]		2
P51688	6448	<ul><li>D->E at 32: in MPS3A, MIM: 252900<li>D->G at 32: in MPS3A, MIM: 252900<li>Y->N at 40: in MPS3A; intermediate, MIM: 252900<li>N->K at 42: in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900<li>A->T at 44: in MPS3A; severe, MIM: 252900<li>S->W at 66: in MPS3A; intermediate/severe; common mutation in Italy, MIM: 252900<li>R->C at 74: in MPS3A; intermediate/severe; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum, MIM: 252900<li>R->H at 74: in MPS3A, MIM: 252900<li>T->P at 79: in MPS3A; severe, MIM: 252900<li>Missing  at 84-85: in MPS3A, MIM: 252900<li>H->Y at 84: in MPS3A, MIM: 252900<li>Q->R at 85: in MPS3A, MIM: 252900<li>M->T at 88: in MPS3A, MIM: 252900<li>G->R at 90: in MPS3A, MIM: 252900<li>S->R at 106: in MPS3A; shows 3.3% activity of the expressed wild-type enzyme; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells, MIM: 252900<li>G->R at 122: in MPS3A; intermediate, MIM: 252900<li>P->L at 128: in MPS3A; intermediate, MIM: 252900<li>V->M at 131: in MPS3A, MIM: 252900<li>T->M at 139: in MPS3A, MIM: 252900<li>L->P at 146: in MPS3A; severe, MIM: 252900<li>R->Q at 150: in MPS3A; severe, MIM: 252900<li>R->W at 150: in MPS3A, MIM: 252900<li>L->P at 163: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the mutant protein shows instability in the lysosomes, MIM: 252900<li>D->N at 179: in MPS3A; severe, MIM: 252900<li>R->C at 182: in MPS3A; intermediate, MIM: 252900<li>G->R at 191: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum, MIM: 252900<li>F->L at 193: in MPS3A, MIM: 252900<li>R->P at 206: in MPS3A; the mutant enzyme retains 8% residual activity, MIM: 252900<li>V->A at 226, MIM: 252900<li>P->R at 227: in MPS3A; severe, MIM: 252900<li>A->G at 234: in MPS3A, MIM: 252900<li>D->N at 235: in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900<li>D->V at 235: in MPS3A, MIM: 252900<li>R->H at 245: in MPS3A; severe; common mutation in Western Europe and Australia, MIM: 252900<li>G->A at 251: in MPS3A, MIM: 252900<li>D->N at 273: in MPS3A, MIM: 252900<li>P->S at 288: in MPS3A, MIM: 252900<li>P->S at 293: in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900<li>P->T at 293: in MPS3A, MIM: 252900<li>S->P at 298: in MPS3A; associated with slowly progressive clinical phenotype, MIM: 252900<li>E->V at 300: in MPS3A, MIM: 252900<li>R->L at 304, MIM: 252900<li>Q->P at 307: in MPS3A, MIM: 252900<li>T->A at 321: in MPS3A, MIM: 252900<li>I->S at 322: in MPS3A, MIM: 252900<li>A->P at 354: in MPS3A, MIM: 252900<li>E->K at 355: in MPS3A, MIM: 252900<li>V->I at 361: in dbSNP:rs9894254, MIM: 252900<li>S->R at 364: in MPS3A, MIM: 252900<li>E->K at 369: in MPS3A; intermediate, MIM: 252900<li>Y->H at 374: in MPS3A, MIM: 252900<li>R->C at 377: in MPS3A; severe; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900<li>R->H at 377: in MPS3A, MIM: 252900<li>Q->R at 380: in MPS3A, MIM: 252900<li>H->HQR at 381: in MPS3A, MIM: 252900<li>L->R at 386: in MPS3A, MIM: 252900<li>V->M at 387, MIM: 252900<li>N->K at 389: in MPS3A, MIM: 252900<li>M->I at 394: in dbSNP:rs34297805, MIM: 252900<li>Missing  at 403: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells, MIM: 252900<li>YRAR->W at 432-435: in MPS3A, MIM: 252900<li>R->Q at 433: in MPS3A; severe, MIM: 252900<li>R->W at 433: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum, MIM: 252900<li>Missing  at 436-438: in MPS3A, MIM: 252900<li>E->K at 447: in MPS3A, MIM: 252900<li>R->H at 456: does not affect enzyme activity; cells transfected with the mutant enzyme contain a 62 kDa precursor and a 56 kDa mature form as cells transfected with the wild-type enzyme; dbSNP:rs7503034, MIM: 252900<li>V->F at 486: in MPS3A, MIM: 252900</ul>					<li>endoplasmic reticulum</li><li>lysosomes</li>	<li>GO:0005783</li><li>GO:0005764</li>		Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	<li>rs34297805</li><li>rs9894254</li><li>rs7503034</li>	2
P51689	414	<ul><li>S->C at 224: in dbSNP:rs211653<li>V->I at 500: in dbSNP:rs2229557<li>M->T at 564: in dbSNP:rs2228431</ul>									<li>rs211653</li><li>rs2229557</li><li>rs2228431</li>	2
P51690	415	<ul><li>R->S at 12: in CDPX1, MIM: 302950<li>I->N at 80: in CDPX1, MIM: 302950<li>R->P at 111: in CDPX1, MIM: 302950<li>G->R at 117: in CDPX1, MIM: 302950<li>G->V at 137: in CDPX1, MIM: 302950<li>R->H at 183: in dbSNP:rs34412194, MIM: 302950<li>G->R at 245: in CDPX1, MIM: 302950<li>G->S at 424: in dbSNP:rs35143646, MIM: 302950<li>T->M at 481: in CDPX1, MIM: 302950<li>C->Y at 492: in CDPX1, MIM: 302950<li>P->S at 578: in CDPX1; dbSNP:rs28935474, MIM: 302950</ul>								Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	<li>rs35143646</li><li>rs34412194</li><li>rs28935474</li>	2
P51692	6777	<ul><li>A->V at 130: in dbSNP:rs2277619<li>A->P at 630: in LTD2; affects activation by growth hormone or interferon-gamma, MIM: 245590</ul>							<li>O12980</li><li>Q7YQB8</li><li>P06880</li><li>P45654</li><li>Q8MI73</li><li>P45655</li><li>Q9TTB0</li><li>P08998</li><li>O93566</li><li>Q9IBE5</li><li>Q9IB11</li><li>P13391</li><li>P33711</li><li>P34747</li><li>P34746</li><li>Q9DGG5</li><li>Q01283</li><li>P10766</li><li>Q01282</li><li>Q8HYE5</li><li>O62754</li><li>P34745</li><li>P34744</li><li>P01246</li><li>Q659Q8</li><li>Q05163</li><li>P09113</li><li>P01245</li><li>P01244</li><li>Q9W6R8</li><li>Q9I9L5</li><li>P45643</li><li>P01248</li><li>Q9W6J7</li><li>P10298</li><li>P33093</li><li>P33092</li><li>Q07221</li><li>Q7YRR6</li><li>Q9PWG3</li><li>Q9W6J5</li><li>P10607</li><li>P22077</li><li>Q9JKM4</li><li>Q9GKA1</li><li>P67931</li><li>P58756</li><li>P56437</li><li>O18938</li><li>P67930</li><li>P37886</li><li>P11228</li><li>Q9I9M4</li><li>P37885</li><li>P55755</li><li>P34006</li><li>P34005</li><li>Q98UF6</li><li>P10813</li><li>P48248</li><li>P10814</li><li>P46407</li><li>P29971</li><li>P46404</li><li>Q9GL60</li><li>P24363</li><li>P07064</li><li>Q7YQD2</li><li>P01241</li><li>P20391</li><li>P20392</li><li>P19795</li><li>P87391</li><li>P69158</li><li>Q9GMB2</li><li>P08591</li><li>Q9GMB3</li><li>P79885</li><li>P69159</li><li>Q864S7</li><li>P09539</li><li>P09537</li><li>O73848</li><li>Q9DEV3</li><li>Q1HFN3</li><li>O73849</li><li>O13188</li><li>O70615</li><li>P69160</li><li>P69161</li><li>P58343</li><li>P69162</li>	Laron type dwarfism II (LTD2) [MIM:245590]	rs2277619	2
P51787	3784	<ul><li>Missing  at 71-73: in LQT1<li>Y->C at 111: in LQT1, MIM: 192500<li>S->G at 140: in ATFB3; gain of function, MIM: 607554<li>F->C at 157: in LQT1, MIM: 192500<li>E->K at 160: in LQT1, MIM: 192500<li>FG->W at 167-168: in LQT1, MIM: 192500<li>G->R at 168: in LQT1; dbSNP:rs179489, MIM: 192500<li>R->C at 174: in LQT1, MIM: 192500<li>R->H at 174: in LQT1, MIM: 192500<li>A->P at 178: in LQT1; loss of channel activity, MIM: 192500<li>A->T at 178: in LQT1, MIM: 192500<li>G->S at 179: in LQT1, MIM: 192500<li>Y->S at 184: in LQT1, MIM: 192500<li>G->R at 189: in LQT1; familial sudden death, MIM: 192500<li>R->Q at 190: in LQT1; loss of channel activity, MIM: 192500<li>A->P at 194: in LQT1, MIM: 192500<li>G->R at 216: in LQT1, MIM: 192500<li>S->L at 225: in LQT1, MIM: 192500<li>D->N at 242: in LQT1, MIM: 192500<li>R->C at 243: in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials , MIM: 192500<li>R->H at 243: in JLNS1; minor changes of wt current , MIM: 220400<li>W->R at 248: in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials , MIM: 192500<li>L->H at 250: in LQT1, MIM: 192500<li>V->M at 254: in LQT1; associated with M-417 in a patient, MIM: 192500<li>E->D at 261: in JLNS1, MIM: 220400<li>E->K at 261: in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits, MIM: 192500<li>L->P at 266: in LQT1, MIM: 192500<li>G->D at 269: in LQT1, MIM: 192500<li>G->S at 269: in LQT1, MIM: 192500<li>L->F at 273: in LQT1; functional channel with reduced macroscopic conductance , MIM: 192500<li>Y->C at 281: in LQT1, MIM: 192500<li>A->T at 300: in LQT1, MIM: 192500<li>W->S at 305: in JLNS1, MIM: 220400<li>G->R at 306: in LQT1, MIM: 192500<li>V->L at 307: in SQT2; gain of function, MIM: 609621<li>T->R at 309: in LQT1, MIM: 192500<li>V->I at 310: in LQT1, MIM: 192500<li>T->I at 311: in LQT1, MIM: 192500<li>T->I at 312: in LQT1; loss of channel activity, MIM: 192500<li>I->M at 313: in LQT1, MIM: 192500<li>G->S at 314: in LQT1, MIM: 192500<li>Y->C at 315: in LQT1, MIM: 192500<li>Y->S at 315: in LQT1, MIM: 192500<li>D->N at 317: in LQT1, MIM: 192500<li>K->N at 318: in LQT1, MIM: 192500<li>P->A at 320: in LQT1, MIM: 192500<li>G->R at 325: in LQT1, MIM: 192500<li>Missing  at 339: in LQT1, MIM: 192500<li>A->E at 341: in LQT1; dbSNP:rs12720459, MIM: 192500<li>A->V at 341: in LQT1: in dbSNP rsrs12720459, MIM: 192500<li>L->F at 342: in LQT1, MIM: 192500<li>A->V at 344: in LQT1, MIM: 192500<li>G->E at 345: in LQT1, MIM: 192500<li>G->R at 345: in LQT1; familial sudden death, MIM: 192500<li>S->W at 349: in LQT1, MIM: 192500<li>L->P at 353: in LQT1, MIM: 192500<li>K->R at 362: in dbSNP:rs12720458, MIM: 192500<li>R->P at 366: in LQT1, MIM: 192500<li>R->Q at 366: in LQT1, MIM: 192500<li>R->W at 366: in LQT1, MIM: 192500<li>A->T at 371: in LQT1, MIM: 192500<li>S->P at 373: in LQT1, MIM: 192500<li>T->I at 391: in LQT1, MIM: 192500<li>W->R at 392: in LQT1, MIM: 192500<li>K->N at 393: in dbSNP:rs12720457, MIM: 192500<li>V->M at 417: in LQT1; associated with M-254 in a patient, MIM: 192500<li>P->R at 448: in LQT1, MIM: 192500<li>A->T at 525: in LQT1, MIM: 192500<li>R->W at 533: in LQT1; minor changes of wt current , MIM: 192500<li>R->W at 539: in LQT1; minor changes of wt current , MIM: 192500<li>R->C at 555: in LQT1; associated with a fruste phenotype, MIM: 192500<li>S->F at 566: in LQT1, MIM: 192500<li>R->C at 583: in LQT1; dbSNP:rs17221854, MIM: 192500<li>T->M at 587: in LQT1, MIM: 192500<li>G->D at 589: in LQT1; reduced cell surface expression and strongly reduced potassium current, MIM: 192500<li>R->H at 591: in LQT1, MIM: 192500<li>R->Q at 594: in LQT1, MIM: 192500<li>G->S at 643: in dbSNP:rs1800172, MIM: 192500</ul>	death	GO:0016265			cell surface	GO:0009928,GO:0009986	<li>Q9MYS6</li><li>P51787</li><li>O97531</li><li>Q8N4C8</li><li>O70344</li><li>Q9TTJ7</li>	<li>Long QT syndrome type 1 (LQT1) [MIM:192500]</li><li>Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]</li><li>Atrial fibrillation type 3 (ATFB3) [MIM:607554]</li><li>Short QT syndrome type 2 (SQT2) [MIM:609621]</li>	<li>rs1800172</li><li>rs17221854</li><li>rs179489</li><li>rs12720457</li><li>rs12720459</li><li>rs12720458</li>	2
P51788	1181	<ul><li>S->T at 668: in dbSNP:rs9820367<li>G->E at 715: in JAE, MIM: 607631<li>E->D at 718: in dbSNP:rs2228292, MIM: 607631</ul>								Juvenile absence epilepsy (JAE) [MIM:607631]	<li>rs9820367</li><li>rs2228292</li>	2
P51795	1184	<ul><li>R->RH at 30: in NPHL2<li>G->V at 57: in NPHL2, MIM: 300009<li>M->I at 142: in dbSNP:rs34800648, MIM: 300009<li>L->R at 200: in NPHL2, MIM: 300009<li>S->L at 244: in XLRH, MIM: 300554<li>R->P at 280: in LMWPHN; 70% reduction in channel activity, MIM: 308990<li>G->E at 506: in NPHL1, MIM: 310468<li>G->R at 512: in NPHL2; abolishes the chloride currents, MIM: 300009<li>S->P at 520: in NPHL2, MIM: 300009<li>E->D at 527: in NPHL2; abolishes the chloride currents; total loss of function, MIM: 300009</ul>								<li>Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]</li><li>Nephrolithiasis type 1 (NPHL1) [MIM:310468]</li><li>Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]</li><li>Nephrolithiasis type 2 (NPHL2) [MIM:300009]</li>	rs34800648	2
P51797	1185	<ul><li>G->E at 198: in dbSNP:rs198400</ul>									rs198400	2
P51798	1186	<ul><li>G->R at 215: in OPTA2, MIM: 166600<li>G->R at 240: in OPTB4, MIM: 611490<li>P->R at 249: in OPTB4, MIM: 611490<li>I->F at 261: in OPTB4, MIM: 611490<li>R->Q at 286: in OPTA2, MIM: 166600<li>M->V at 332: in OPTB4, MIM: 611490<li>V->M at 418: in dbSNP:rs12926089, MIM: 611490<li>L->F at 490: in OPTA2, MIM: 166600<li>R->W at 526: in OPTB4, MIM: 611490<li>L->P at 614: in OPTB4, MIM: 611490<li>G->V at 677: in OPTA2, MIM: 166600<li>S->F at 744: in OPTB4, MIM: 611490<li>R->Q at 762: in OPTB4; not detected in the fibroblasts from the patient, MIM: 611490<li>L->P at 766: in OPTB4, MIM: 611490<li>R->Q at 767: in OPTB4, MIM: 611490<li>R->W at 767: in OPTA2 and OPTB4, MIM: 611490</ul>								<li>Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]</li><li>Autosomal dominant osteopetrosis type 2 (OPTA2) [MIM:166600]</li>	rs12926089	2
P51800	1187	<ul><li>R->H at 8: in dbSNP:rs9442189<li>R->H at 45: in dbSNP:rs35932996<li>M->I at 67: in dbSNP:rs17855678<li>R->G at 83: in dbSNP:rs10927887<li>A->V at 287: in dbSNP:rs34188929<li>Y->F at 315: in dbSNP:rs12126269<li>A->T at 447: in dbSNP:rs1805152</ul>									<li>rs12126269</li><li>rs35932996</li><li>rs1805152</li><li>rs34188929</li><li>rs10927887</li><li>rs17855678</li><li>rs9442189</li>	2
P51801		<ul><li>F->L at 4: in dbSNP:rs34851419<li>R->L at 27: in dbSNP:rs2015352<li>S->R at 88: in dbSNP:rs5256<li>V->I at 104: in dbSNP:rs35530360<li>P->L at 124: in BS3, MIM: 607364<li>V->L at 126: in dbSNP:rs5258, MIM: 607364<li>N->H at 143: in dbSNP:rs5259, MIM: 607364<li>A->T at 204: in BS3, MIM: 607364<li>A->G at 214: in dbSNP:rs1889789, MIM: 607364<li>V->L at 334: in dbSNP:rs5251, MIM: 607364<li>A->D at 349: in BS3, MIM: 607364<li>R->W at 395: in dbSNP:rs34255952, MIM: 607364<li>I->V at 419: in dbSNP:rs6650119, MIM: 607364<li>Y->H at 432: in BS3, MIM: 607364<li>R->C at 438: in BS3, MIM: 607364<li>T->S at 481: in dbSNP:rs12140311, MIM: 607364<li>T->M at 562: in dbSNP:rs5253, MIM: 607364<li>E->K at 578: in dbSNP:rs2275166, MIM: 607364<li>S->L at 660: in dbSNP:rs5255, MIM: 607364</ul>							P21465	Bartter syndrome type 3 (BS3) [MIM:607364]	<li>rs35530360</li><li>rs2275166</li><li>rs5259</li><li>rs5258</li><li>rs6650119</li><li>rs5253</li><li>rs5255</li><li>rs5256</li><li>rs5251</li><li>rs34255952</li><li>rs34851419</li><li>rs1889789</li><li>rs12140311</li><li>rs2015352</li>	2
P51805	55558	<ul><li>G->S at 384: in dbSNP:rs34585333<li>G->S at 413: in dbSNP:rs36115591<li>D->E at 863: in dbSNP:rs5945430</ul>									<li>rs5945430</li><li>rs34585333</li><li>rs36115591</li>	2
P51810	4935	<ul><li>R->C at 5: in OA1, MIM: 300500<li>G->D at 35: in OA1, MIM: 300500<li>L->R at 39: in OA1, MIM: 300500<li>D->N at 78: in OA1; reduces interaction with G-proteins, MIM: 300500<li>D->V at 78: in OA1, MIM: 300500<li>G->D at 84: in OA1, MIM: 300500<li>G->R at 84: in OA1, MIM: 300500<li>C->R at 116: in OA1, MIM: 300500<li>C->S at 116: in OA1; abolishes interaction with G-proteins, MIM: 300500<li>G->E at 118: in OA1, MIM: 300500<li>Q->R at 124: in OA1, MIM: 300500<li>W->R at 133: in OA1, MIM: 300500<li>A->V at 138: in OA1, MIM: 300500<li>S->N at 152: in OA1, MIM: 300500<li>A->D at 173: in OA1, MIM: 300500<li>G->V at 229: in OA1, MIM: 300500<li>T->K at 232: in OA1, MIM: 300500<li>E->K at 233: in OA1, MIM: 300500<li>E->K at 235: in OA1, MIM: 300500<li>I->V at 244: in OA1, MIM: 300500<li>I->N at 261: in OA1, MIM: 300500<li>E->G at 271: in OA1, MIM: 300500<li>Missing  at 290: in OA1, MIM: 300500<li>W->C at 292: in OA1, MIM: 300500<li>W->G at 292: in OA1, MIM: 300500</ul>							<li>P51810</li><li>O77408</li>	Ocular albinism type 1 (OA1) [MIM:300500]		2
P51811	7504	<ul><li>R->G at 222: in MLS, MIM: 314850<li>C->R at 294: in MLS: in dbSNP rsrs28933690, MIM: 314850<li>E->K at 327: in MLS; atypical without hematologic, neuromuscular, or cerebral involvement; protein seems functional, MIM: 314850</ul>							Q43827	McLeod syndrome (MLS) [MIM:314850]	rs28933690	2
P51812	6197	<ul><li>I->S at 38: in dbSNP rsrs56218010<li>G->V at 75: in CLS, MIM: 303600<li>V->F at 82: in CLS, MIM: 303600<li>R->W at 114: in CLS, MIM: 303600<li>H->Q at 127: in CLS, MIM: 303600<li>D->Y at 154: in CLS, MIM: 303600<li>A->V at 225: in CLS, MIM: 303600<li>S->A at 227: in CLS, MIM: 303600<li>I->V at 416: in a breast cancer sample; somatic mutation, MIM: 303600<li>G->D at 431: in CLS, MIM: 303600<li>Y->C at 483: in a gastric adenocarcinoma sample; somatic mutation, MIM: 303600<li>L->F at 608: in a glioblastoma multiforme sample; somatic mutation, MIM: 303600<li>R->C at 723: in dbSNP rsrs35026425, MIM: 303600<li>R->Q at 729: in CLS: in dbSNP rsrs28935171, MIM: 303600</ul>							<li>Q8MZC4</li><li>Q9UJA2</li><li>Q07560</li><li>Q5U2V5</li><li>O01916</li><li>Q80ZM8</li>	Coffin-Lowry syndrome (CLS) [MIM:303600]	<li>rs56218010</li><li>rs28935171</li><li>rs35026425</li>	2
P51813	660	<ul><li>S->L at 284: in dbSNP rsrs35353387<li>R->W at 670: in a lung large cell carcinoma sample; somatic mutation</ul>									rs35353387	2
P51814	7592	<ul><li>P->L at 153: in MRX89, MIM: 314995<li>I->R at 167: in dbSNP:rs17147624, MIM: 314995<li>D->E at 357: in dbSNP:rs2498170, MIM: 314995</ul>								Mental retardation X-linked type 89 (MRX89) [MIM:314995]	<li>rs2498170</li><li>rs17147624</li>	2
P51816	2334	<ul><li>L->M at 1185: in dbSNP:rs12858959</ul>									rs12858959	2
P51825	4299	<ul><li>P->A at 209: in dbSNP:rs3733378<li>Q->K at 1204: in a breast cancer sample; somatic mutation</ul>									rs3733378	2
P51826	3899	<ul><li>S->N at 358: in dbSNP:rs4851223<li>N->S at 494: in dbSNP:rs1047265</ul>									<li>rs1047265</li><li>rs4851223</li>	2
P51841	2986	<ul><li>R->P at 10: in a breast cancer sample; somatic mutation<li>S->C at 40: in dbSNP rsrs34228145<li>I->N at 160: in dbSNP rsrs33971675<li>R->W at 230: in dbSNP rsrs33973457<li>L->P at 284: in dbSNP:rs12008095<li>Q->R at 296: in dbSNP:rs502209<li>R->Q at 305: in dbSNP rsrs55966326<li>Y->C at 308: in dbSNP:rs16985750<li>Q->H at 380: in dbSNP:rs2272925<li>G->R at 434: in dbSNP rsrs56293008<li>G->D at 568: in a glioblastoma multiforme sample; somatic mutation<li>R->Q at 628: in dbSNP:rs7883913<li>V->L at 677: in dbSNP rsrs35474112<li>E->K at 794: in dbSNP rsrs35726803<li>A->V at 1010: in dbSNP rsrs55735218<li>K->R at 1052: in a lung adenocarcinoma sample; somatic mutation<li>E->D at 1055: in a lung squamous cell carcinoma sample; somatic mutation</ul>									<li>rs12008095</li><li>rs7883913</li><li>rs33973457</li><li>rs2272925</li><li>rs33971675</li><li>rs55966326</li><li>rs56293008</li><li>rs55735218</li><li>rs502209</li><li>rs16985750</li><li>rs35726803</li><li>rs34228145</li><li>rs35474112</li>	2
P51843	190	<ul><li>R->P at 267: in AHC; impairs transcriptional silencing of the StAR promoter, MIM: 300200<li>Missing  at 269: in AHC; impairs transcriptional silencing of the StAR promoter, MIM: 300200<li>L->P at 278: in AHC, MIM: 300200<li>V->G at 287: in AHC; the patient presents an inappropriate tall stature and renal ectopy, MIM: 300200<li>W->C at 291: in AHC; dbSNP:rs28935482, MIM: 300200<li>L->P at 295: in AHC, MIM: 300200<li>L->P at 297: in AHC; results in a severe loss of repressor activity, MIM: 300200<li>A->P at 300: in AHC, MIM: 300200<li>A->V at 300: in AHC, MIM: 300200<li>E->K at 377: in AHC, MIM: 300200<li>Y->D at 380: in AHC, MIM: 300200<li>L->H at 381: in AHC, MIM: 300200<li>K->N at 382: in AHC: in dbSNP rsrs28935180, MIM: 300200<li>V->G at 385: in AHC, MIM: 300200<li>R->G at 425: in AHC, MIM: 300200<li>R->T at 425: in AHC, MIM: 300200<li>I->S at 439: in AHC; mild phenotype, MIM: 300200<li>N->I at 440: in AHC; impairs RNA-binding activity; dbSNP:rs28935481, MIM: 300200<li>L->R at 466: in AHC, MIM: 300200</ul>			RNA-binding	GO:0003723			<li>Q28918</li><li>Q28996</li><li>P79245</li><li>Q9DEB4</li><li>Q9DG10</li><li>Q9DG09</li><li>P51557</li><li>P70114</li><li>P97826</li><li>Q9DG08</li><li>P49675</li><li>O46689</li><li>P58864</li><li>P51843</li><li>Q9DE06</li>	X-linked adrenal hypoplasia congenital (AHC) [MIM:300200]	<li>rs28935180</li><li>rs28935481</li><li>rs28935482</li>	2
P51854	8277	<ul><li>L->F at 24: in dbSNP:rs17855509<li>I->T at 152: in dbSNP:rs17852259</ul>									<li>rs17855509</li><li>rs17852259</li>	2
P51857	6718	<ul><li>L->F at 106: in CBAS2, MIM: 235555<li>P->R at 133: in CBAS2, MIM: 235555<li>P->L at 198: in CBAS2, MIM: 235555<li>R->C at 261: in CBAS2, MIM: 235555</ul>								Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]		2
P51878		<ul><li>K->N at 3: in dbSNP:rs45483102<li>L->W at 10: in dbSNP:rs1792778<li>F->L at 13: in dbSNP:rs3181320<li>L->R at 59<li>T->A at 90: in dbSNP:rs507879<li>R->H at 152: in dbSNP:rs3181179<li>V->L at 201: in dbSNP:rs3181326<li>R->H at 282<li>L->V at 318: in dbSNP:rs523104<li>E->K at 337: in dbSNP:rs45619739<li>E->Q at 366</ul>									<li>rs507879</li><li>rs1792778</li><li>rs3181179</li><li>rs3181320</li><li>rs45483102</li><li>rs45619739</li><li>rs3181326</li><li>rs523104</li>	2
P51888	5549	<ul><li>M->V at 157: in dbSNP:rs2233726<li>N->S at 334: in dbSNP:rs2233732<li>N->H at 348: in dbSNP:rs9439</ul>									<li>rs2233726</li><li>rs9439</li><li>rs2233732</li>	2
P51946	902	<ul><li>R->L at 28: in dbSNP:rs2234942<li>M->V at 54: in dbSNP:rs3093785<li>K->R at 138: in dbSNP:rs2266691<li>V->A at 270: in dbSNP:rs2230641</ul>									<li>rs2230641</li><li>rs3093785</li><li>rs2266691</li><li>rs2234942</li>	2
P51948	4331	<ul><li>D->A at 282: in dbSNP:rs35188899</ul>									rs35188899	2
P51955	4751	<ul><li>N->S at 354: in dbSNP:rs2230489<li>C->Y at 410: in dbSNP rsrs56102977</ul>									<li>rs2230489</li><li>rs56102977</li>	2
P51956	4752	<ul><li>H->L at 23: in dbSNP:rs17482764<li>P->R at 60: in dbSNP rsrs55946204<li>R->H at 122: in dbSNP rsrs56190615<li>P->L at 170: in dbSNP rsrs56021040<li>R->G at 259: in dbSNP rsrs34077016<li>E->D at 305<li>D->N at 461<li>E->K at 477</ul>									<li>rs34077016</li><li>rs56190615</li><li>rs55946204</li><li>rs17482764</li><li>rs56021040</li>	2
P51957	6787	<ul><li>P->A at 225: in dbSNP:rs1029871<li>R->G at 239: in dbSNP:rs35778416<li>P->L at 250: in dbSNP:rs56408749<li>T->I at 357: in dbSNP:rs2230537<li>Q->E at 456: in dbSNP:rs56019351<li>F->L at 567: in dbSNP:rs34986855<li>R->K at 777: in a colorectal adenocarcinoma sample; somatic mutation</ul>									<li>rs56408749</li><li>rs2230537</li><li>rs1029871</li><li>rs56019351</li><li>rs35778416</li><li>rs34986855</li>	2
P51959	900	<ul><li>N->H at 178: in dbSNP:rs2069352<li>F->L at 179: in dbSNP:rs11541970</ul>									<li>rs11541970</li><li>rs2069352</li>	2
P51970	4702	<ul><li>N->H at 140: in a breast cancer sample; somatic mutation</ul>										2
P51993	2528	<ul><li>P->S at 124: in dbSNP:rs778805<li>Q->K at 230: in dbSNP:rs364637</ul>									<li>rs778805</li><li>rs364637</li>	2
P52179	8736	<ul><li>V->L at 22: in dbSNP:rs1791085<li>S->P at 181: in dbSNP:rs1962519<li>T->M at 215: in dbSNP:rs2230165<li>G->A at 341: in dbSNP:rs8099021<li>E->V at 600: in dbSNP:rs9807556<li>I->T at 960: in dbSNP:rs1071600<li>D->N at 1408: in dbSNP:rs3765623<li>M->T at 1453: in dbSNP:rs16944397</ul>									<li>rs8099021</li><li>rs2230165</li><li>rs3765623</li><li>rs16944397</li><li>rs1071600</li><li>rs9807556</li><li>rs1962519</li><li>rs1791085</li>	2
P52209	5226	<ul><li>A->S at 268: in dbSNP:rs11547610</ul>									rs11547610	2
P52292	3838	<ul><li>P->R at 165: in dbSNP:rs11545989<li>T->P at 430: in dbSNP:rs1059538</ul>									<li>rs1059538</li><li>rs11545989</li>	2
P52294	3836	<ul><li>N->S at 73: in dbSNP:rs4678193</ul>									rs4678193	2
P52306	5910	<ul><li>K->E at 314: in dbSNP:rs34392334</ul>									rs34392334	2
P52333	3718	<ul><li>P->L at 12: in dbSNP rsrs56061056<li>R->H at 40: in dbSNP rsrs56384680<li>Missing  at 58: in T<li>Y->C at 100: in T, MIM: 600802<li>P->T at 132: in dbSNP:rs3212723, MIM: 600802<li>P->R at 151: in T: in dbSNP rsrs55778349, MIM: 600802<li>D->E at 169: in T, MIM: 600802<li>E->G at 481: in T, MIM: 600802<li>L->V at 521: in dbSNP rsrs55666418, MIM: 600802<li>L->P at 527: in a gastric adenocarcinoma sample; somatic mutation, MIM: 600802<li>R->W at 582: in T, MIM: 600802<li>Missing  at 586-592: in T, MIM: 600802<li>G->S at 589: in T, MIM: 600802<li>I->F at 688: in dbSNP:rs35785705, MIM: 600802<li>V->I at 722: in dbSNP:rs3213409, MIM: 600802<li>C->R at 759: in T, MIM: 600802<li>L->S at 910: in T, MIM: 600802</ul>								Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-)SCID) [MIM:600802]	<li>rs56384680</li><li>rs3212723</li><li>rs55666418</li><li>rs56061056</li><li>rs3213409</li><li>rs35785705</li><li>rs55778349</li>	2
P52429	8526	<ul><li>L->R at 99: in a breast cancer sample; somatic mutation</ul>										2
P52569	6542	<ul><li>V->M at 20: in dbSNP:rs12680645<li>C->F at 376: in dbSNP:rs1134975<li>A->T at 531</ul>									<li>rs12680645</li><li>rs1134975</li>	2
P52597	3185	<ul><li>K->R at 87: in dbSNP:rs17851426</ul>									rs17851426	2
P52630	6773	<ul><li>Q->H at 66: in dbSNP:rs2066816<li>L->P at 220: in dbSNP:rs2066817<li>C->S at 246: in dbSNP:rs2228259<li>T->M at 448: in dbSNP:rs2066815<li>I->V at 464: in dbSNP:rs2066811<li>S->I at 501: in dbSNP:rs2066809<li>M->I at 594: in dbSNP:rs2066807<li>Q->H at 826: in dbSNP:rs2229363</ul>									<li>rs2066807</li><li>rs2066809</li><li>rs2229363</li><li>rs2066811</li><li>rs2228259</li><li>rs2066815</li><li>rs2066817</li><li>rs2066816</li>	2
P52655	2957	<ul><li>L->V at 30: in a breast cancer sample; somatic mutation<li>A->P at 109: in dbSNP:rs17111579</ul>									rs17111579	2
P52701	2956	<ul><li>K->T at 13: in dbSNP:rs41294988<li>A->V at 20: in colorectal/endometrial cancer<li>A->V at 25: in dbSNP:rs35462442<li>G->E at 39: in dbSNP:rs1042821<li>G->A at 54: in CRC; uncertain pathogenicity<li>S->L at 65: in dbSNP:rs41294984<li>K->N at 99: in CRC; uncertain pathogenicity<li>R->L at 128: no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity<li>S->I at 144: in suspected HNPCC5 and CRC; dbSNP:rs3211299<li>E->D at 220: in dbSNP:rs1800938<li>E->D at 221: in dbSNP:rs41557217<li>S->I at 285: in CRC<li>K->R at 295: in multiple colorectal adenoma<li>F->S at 340: in CRC, breast cancer and leukemia<li>L->V at 396: rare polymorphism; dbSNP:rs2020908<li>L->P at 449: in colorectal/endometrial cancer; uncertain pathogenicity<li>R->H at 468: in dbSNP:rs41295268<li>M->V at 492: in HNPCC5, MIM: 600678<li>S->C at 503, MIM: 600678<li>V->A at 509, MIM: 600678<li>Q->R at 522: in CRC; uncertain pathogenicity, MIM: 600678<li>Y->S at 538: in dbSNP:rs728619, MIM: 600678<li>G->R at 566: in CRC; partial functional loss, MIM: 600678<li>S->L at 580: in dbSNP:rs41295270, MIM: 600678<li>E->D at 619: in CRC; uncertain pathogenicity, MIM: 600678<li>P->A at 623: in dbSNP:rs3136334, MIM: 600678<li>P->L at 623: no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity, MIM: 600678<li>G->A at 685: in CRC, MIM: 600678<li>Q->E at 698: in suspected HNPCC; could be a polymorphism, MIM: 600678<li>I->M at 725: in CRC; uncertain pathogenicity, MIM: 600678<li>K->T at 728: no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity; dbSNP:rs35552856, MIM: 600678<li>R->Q at 772: in CRC, MIM: 600678<li>R->W at 772: in HNPCC5, MIM: 600678<li>A->V at 787: in CRC; uncertain pathogenicity, MIM: 600678<li>V->A at 800: in CRC; somatic mutation, MIM: 600678<li>V->L at 800: may be a rare polymorphism, MIM: 600678<li>D->G at 803: in CRC, MIM: 600678<li>Y->C at 850: in suspected HNPCC5 and CRC, MIM: 600678<li>K->M at 854: in CRC; could be a polymorphism; dbSNP:rs34374438, MIM: 600678<li>V->A at 878: in suspected HNPCC5, colorectal/endometrial cancer and CRC; dbSNP:rs2020912, MIM: 600678<li>I->V at 886: in dbSNP:rs2020914, MIM: 600678<li>R->H at 901: in colorectal/endometrial cancer, MIM: 600678<li>R->H at 976: in CRC; sporadic, MIM: 600678<li>A->D at 1021: in CRC; uncertain pathogenicity, MIM: 600678<li>D->V at 1031: in CRC; somatic mutation, MIM: 600678<li>R->C at 1076: in CRC; uncertain pathogenicity, MIM: 600678<li>P->T at 1087: in CRC, MIM: 600678<li>R->H at 1095: in CRC; uncertain pathogenicity, MIM: 600678<li>T->M at 1100: in CRC; uncertain pathogenicity, MIM: 600678<li>C->R at 1158: in CRC; somatic mutation, MIM: 600678<li>E->V at 1163: in HNPCC5, MIM: 600678<li>E->K at 1193: in endometrial cancer; display marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity, MIM: 608089<li>D->V at 1213, MIM: 608089<li>T->I at 1219: in CRC; uncertain pathogenicity, MIM: 608089<li>V->L at 1232: in dbSNP:rs41295276, MIM: 608089<li>E->Q at 1234: in dbSNP:rs35717727, MIM: 608089<li>H->D at 1248: in CRC; uncertain pathogenicity, MIM: 608089<li>V->I at 1260, MIM: 608089<li>T->M at 1284: in CRC, MIM: 608089<li>R->G at 1321: in dbSNP:rs41295278, MIM: 608089<li>L->Q at 1354: in CRC; uncertain pathogenicity, MIM: 608089</ul>	mismatch repair	GO:0006298					<li>Q8L925</li><li>Q5XXB5</li><li>P25847</li><li>O24617</li><li>P16960</li><li>P43246</li><li>Q3MHE4</li>	<li>Endometrial cancer [MIM:608089]</li><li>Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:600678]</li>	<li>rs2020912</li><li>rs35552856</li><li>rs728619</li><li>rs2020914</li><li>rs34374438</li><li>rs41294984</li><li>rs41295270</li><li>rs1042821</li><li>rs41294988</li><li>rs41557217</li><li>rs3211299</li><li>rs41295278</li><li>rs41295276</li><li>rs3136334</li><li>rs1800938</li><li>rs35717727</li><li>rs41295268</li><li>rs2020908</li><li>rs35462442</li>	2
P52732	3832	<ul><li>L->F at 1042: in dbSNP:rs34417963</ul>									rs34417963	2
P52735	7410	<ul><li>M->V at 594</ul>										2
P52736	7692	<ul><li>S->T at 193: in dbSNP:rs1033545<li>G->E at 194: in dbSNP:rs2228273</ul>									<li>rs2228273</li><li>rs1033545</li>	2
P52737	7695	<ul><li>Y->C at 107: in dbSNP:rs10425995</ul>									rs10425995	2
P52738	7699	<ul><li>A->V at 386: in dbSNP:rs2229373</ul>									rs2229373	2
P52740	7691	<ul><li>G->D at 203: in dbSNP:rs1122955<li>P->L at 252: in dbSNP:rs1465789</ul>									<li>rs1122955</li><li>rs1465789</li>	2
P52741	7693	<ul><li>I->T at 30: in dbSNP:rs10414451<li>A->T at 46: in dbSNP:rs10413455<li>S->R at 207: in dbSNP:rs34034473</ul>									<li>rs10413455</li><li>rs10414451</li><li>rs34034473</li>	2
P52742	7694	<ul><li>D->G at 22: in dbSNP:rs1469087<li>S->L at 507: in dbSNP:rs2228277<li>T->A at 517: in dbSNP:rs2228278<li>G->R at 579: in dbSNP:rs2228279<li>S->L at 592: in dbSNP:rs2228275</ul>									<li>rs1469087</li><li>rs2228275</li><li>rs2228277</li><li>rs2228278</li><li>rs2228279</li>	2
P52743		<ul><li>R->Q at 112: in dbSNP:rs7250969<li>Q->H at 181: in dbSNP:rs1802617</ul>									<li>rs1802617</li><li>rs7250969</li>	2
P52746	7701	<ul><li>G->S at 751: in dbSNP:rs3770214<li>L->H at 956: in dbSNP:rs3770213<li>A->T at 1313: in dbSNP:rs3821033</ul>									<li>rs3770213</li><li>rs3770214</li><li>rs3821033</li>	2
P52747	7702	<ul><li>E->Q at 561: in dbSNP:rs10743108</ul>									rs10743108	2
P52757	1124	<ul><li>H->R at 204: in dbSNP:rs3750103<li>P->S at 438: in dbSNP:rs34971642</ul>									<li>rs34971642</li><li>rs3750103</li>	2
P52789	3099	<ul><li>Q->H at 142: does not affect activity; dbSNP:rs2229621<li>L->F at 148<li>R->C at 274: in dbSNP:rs28363006<li>A->P at 314: in dbSNP:rs28363015<li>A->V at 314<li>T->I at 331: in dbSNP:rs28363016<li>R->C at 353<li>A->S at 387: in dbSNP:rs28363029<li>R->Q at 497: in dbSNP rsrs2229625<li>R->Q at 775<li>R->Q at 801: in dbSNP:rs28363057<li>R->K at 844: in dbSNP:rs2229629<li>D->N at 881: in dbSNP:rs28363065</ul>									<li>rs28363006</li><li>rs2229625</li><li>rs28363016</li><li>rs28363015</li><li>rs2229629</li><li>rs28363029</li><li>rs28363065</li><li>rs28363057</li><li>rs2229621</li>	2
P52790	3101	<ul><li>G->R at 281: in dbSNP:rs35610191<li>R->W at 480: in a colorectal cancer sample; somatic mutation<li>A->V at 499: in a breast cancer sample; somatic mutation</ul>									rs35610191	2
P52797	1944	<ul><li>V->M at 190: in dbSNP:rs17723260</ul>									rs17723260	2
P52803	1946	<ul><li>N->K at 55: in dbSNP:rs469062</ul>									rs469062	2
P52815	6182	<ul><li>S->P at 105: in dbSNP:rs11546280</ul>									rs11546280	2
P52895	1646	<ul><li>F->Y at 46: in dbSNP:rs2854482<li>L->Q at 172: in dbSNP:rs11474</ul>									<li>rs2854482</li><li>rs11474</li>	2
P52945	3651	<ul><li>C->R at 18: in MODY4, MIM: 606392<li>Q->L at 59: in MODY4, MIM: 606392<li>D->N at 76: in MODY4; could be a polymorphism, MIM: 606392<li>R->H at 197: in MODY4, MIM: 606392<li>P->PP at 243: in MODY4, MIM: 606392</ul>								Maturity onset diabetes of the young type 4 (MODY4) [MIM:606392]		2
P52948	4928	<ul><li>G->V at 1669: in a breast cancer sample; somatic mutation</ul>										2
P52952	1482	<ul><li>L->P at 7: in ASD-AVCD; somatic mutation, MIM: 108900<li>K->I at 15: in ASD-AVCD, MIM: 108900<li>D->A at 16: in dbSNP:rs17052019, MIM: 108900<li>N->S at 19: in ASD-AVCD; somatic mutation, MIM: 108900<li>E->Q at 21: in TOF and ASD-AVCD, MIM: 187500<li>Q->P at 22: in ASD-AVCD, MIM: 108900<li>R->C at 25: in ASD-AVCD, TOF and CHNG5; exhibits significant functional impairment with reduction of transactivation properties and dominant-negative effect; the mutant protein activity on the DIO2, TG and TPO promoters is significantly impaired: in dbSNP rsrs28936670, MIM: 187500<li>S->P at 45: in ASD-AVCD; somatic mutation, MIM: 108900<li>F->L at 51: in ASD-AVCD; somatic mutation, MIM: 108900<li>A->V at 63: in ASD-AVCD, MIM: 108900<li>L->P at 69: in ASD-AVCD; somatic mutation, MIM: 108900<li>P->L at 77: in ASD-AVCD; somatic mutation, MIM: 108900<li>C->R at 114: in ASD-AVCD; somatic mutation, MIM: 108900<li>C->S at 114: in ASD-AVCD; somatic mutation, MIM: 108900<li>K->R at 118: in ASD-AVCD; somatic mutation, MIM: 108900<li>A->S at 119: in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant-negative effect which was associated with reduced DNA binding, MIM: 225250<li>K->R at 124: in ASD-AVCD; somatic mutation, MIM: 108900<li>E->V at 126: in ASD-AVCD; somatic mutation, MIM: 108900<li>A->E at 127: in ASD-AVCD, MIM: 108900<li>P->S at 133: in ASD-AVCD; somatic mutation, MIM: 108900<li>A->T at 135: in ASD-AVCD; somatic mutation, MIM: 108900<li>R->C at 142: in ASD-AVCD, MIM: 108900<li>L->P at 144: in ASD-AVCD; somatic mutation, MIM: 108900<li>R->P at 161: in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant-negative effect which was associated with reduced DNA binding, MIM: 225250<li>T->M at 178: in ASD-AVCD, MIM: 108900<li>K->E at 183: in ASD-AVCD; somatic mutation, MIM: 108900<li>Q->H at 187: in ASD-AVCD, MIM: 108900<li>N->K at 188: in ASD-AVCD, MIM: 108900<li>R->G at 189: in ASD-AVCD, MIM: 108900<li>R->C at 190: in ASD-AVCD, MIM: 108900<li>Y->C at 191: in ASD-AVCD, MIM: 108900<li>K->R at 192: in ASD-AVCD; somatic mutation, MIM: 108900<li>K->T at 192: in ASD-AVCD; somatic mutation, MIM: 108900<li>K->R at 194: in ASD-AVCD; somatic mutation, MIM: 108900<li>V->E at 205: in ASD-AVCD; somatic mutation, MIM: 108900<li>R->C at 216: in TOF and ASD-AVCD, MIM: 187500<li>A->V at 219: in ASD-AVCD and TOF; somatic mutation, MIM: 187500<li>D->N at 226: in ASD-AVCD; somatic mutation, MIM: 108900<li>Y->H at 248: in ASD-AVCD; somatic mutation, MIM: 108900<li>P->T at 275: in ASD-AVCD, MIM: 108900<li>S->F at 279: in ASD-AVCD; somatic mutation, MIM: 108900<li>S->P at 279: in ASD-AVCD; somatic mutation, MIM: 108900<li>A->V at 281: in ASD-AVCD; somatic mutation, MIM: 108900<li>A->V at 286: in ASD-AVCD; somatic mutation, MIM: 108900<li>N->H at 294: in ASD-AVCD; somatic mutation, MIM: 108900<li>D->G at 299: in ASD-AVCD; somatic mutation, MIM: 108900<li>S->G at 305: in ASD-AVCD; somatic mutation, MIM: 108900<li>G->S at 320: in ASD-AVCD; somatic mutation, MIM: 108900<li>R->Q at 322: in ASD-AVCD; somatic mutation, MIM: 108900<li>A->T at 323: in ASD-AVCD, MIM: 108900</ul>			DNA binding	GO:0003677			<li>P35419</li><li>P09933</li><li>Q9IAX2</li><li>P14650</li><li>Q92813</li><li>P07202</li><li>Q6QN12</li><li>P42705</li><li>P49896</li><li>Q5I3B2</li><li>Q8HYB7</li><li>P51689</li><li>P79747</li>	<li>Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]</li><li>Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]</li><li>Tetralogy of Fallot (TOF) [MIM:187500]</li>	<li>rs17052019</li><li>rs28936670</li>	2
P52961	417	<ul><li>P->L at 105: in dbSNP:rs35123761<li>P->R at 126: in dbSNP:rs35619488<li>L->P at 257: in dbSNP:rs2280134</ul>									<li>rs35123761</li><li>rs2280134</li><li>rs35619488</li>	2
P53004	644	<ul><li>A->T at 3: in dbSNP:rs699512<li>L->V at 37: in dbSNP:rs17245918<li>Q->R at 56: in dbSNP:rs1050916</ul>									<li>rs1050916</li><li>rs699512</li><li>rs17245918</li>	2
P53350	5347	<ul><li>R->L at 12: in a lung squamous cell carcinoma sample; somatic mutation<li>L->F at 261: in dbSNP rsrs35056440<li>N->D at 297: in dbSNP:rs16972799<li>L->V at 332: in dbSNP rsrs45489499<li>L->H at 463: in dbSNP rsrs45569335<li>R->H at 518: in dbSNP rsrs56027600<li>S->L at 595: in dbSNP:rs34001032<li>R->H at 599: in dbSNP:rs34954545</ul>									<li>rs45569335</li><li>rs34001032</li><li>rs35056440</li><li>rs34954545</li><li>rs45489499</li><li>rs56027600</li><li>rs16972799</li>	2
P53355	1612	<ul><li>V->I at 416: in dbSNP:rs12343465<li>A->S at 461<li>S->A at 519: in dbSNP rsrs56284867<li>C->Y at 540: in dbSNP rsrs56327474<li>M->T at 941<li>R->W at 977<li>K->N at 978<li>Y->C at 993<li>D->E at 994<li>E->Q at 1005<li>D->Y at 1007<li>L->P at 1008<li>R->C at 1010<li>T->A at 1018<li>M->I at 1272: in dbSNP rsrs56169226<li>N->S at 1344: in dbSNP:rs1056719<li>N->S at 1346: in dbSNP rsrs1056719<li>G->V at 1405: in dbSNP rsrs36220450</ul>									<li>rs1056719</li><li>rs56327474</li><li>rs56169226</li><li>rs36220450</li><li>rs12343465</li><li>rs56284867</li>	2
P53370	11162	<ul><li>C->R at 114: in dbSNP:rs12648093<li>R->Q at 209: in dbSNP:rs1048201</ul>									<li>rs12648093</li><li>rs1048201</li>	2
P53384	4682	<ul><li>P->A at 39: in dbSNP:rs2233531</ul>									rs2233531	2
P53396	47	<ul><li>E->D at 175: in dbSNP:rs2304497</ul>									rs2304497	2
P53420	1286	<ul><li>I->T at 6: in dbSNP:rs16823264<li>G->E at 116: in BFH, MIM: 141200<li>Missing  at 441-446: in APSAR, MIM: 141200<li>P->S at 482: in dbSNP:rs2229814, MIM: 141200<li>G->A at 545: in dbSNP:rs1800516, MIM: 141200<li>E->Q at 570, MIM: 141200<li>G->E at 897: in BFH, MIM: 141200<li>A->T at 931, MIM: 141200<li>G->R at 960: in BFH, MIM: 141200<li>G->E at 999: in BFH: in dbSNP rsrs13027659, MIM: 141200<li>P->L at 1004: in dbSNP:rs1800517, MIM: 141200<li>G->V at 1030: in APSAR, MIM: 203780<li>P->L at 1132: in BFH, MIM: 141200<li>G->S at 1201: in APSAR, MIM: 203780<li>V->M at 1327: in dbSNP:rs2229813, MIM: 203780<li>P->S at 1402: in dbSNP rsrs3752895, MIM: 203780<li>S->P at 1403: in dbSNP:rs3752895, MIM: 203780<li>P->L at 1572: in APSAR, MIM: 203780</ul>								<li>Benign familial hematuria (BFH) [MIM:141200]</li><li>Alport syndrome autosomal recessive (APSAR) [MIM:203780]</li>	<li>rs13027659</li><li>rs2229814</li><li>rs16823264</li><li>rs2229813</li><li>rs3752895</li><li>rs1800517</li><li>rs1800516</li>	2
P53539	2354	<ul><li>G->S at 33: in dbSNP rsrs28381241</ul>									rs28381241	2
P53602	4597	<ul><li>N->H at 278: in dbSNP:rs34519538</ul>									rs34519538	2
P53609		<ul><li>I->V at 103: in dbSNP:rs34918686</ul>									rs34918686	2
P53621	1314	<ul><li>V->G at 1040: in dbSNP:rs34997807</ul>									rs34997807	2
P53634	1075	<ul><li>W->S at 39: in PLS, MIM: 245000<li>Missing  at 67-74: in PLS, MIM: 245000<li>H->P at 127: in PLS, MIM: 245000<li>V->E at 129: in PLS, MIM: 245000<li>G->R at 139: in PLS, MIM: 245000<li>T->I at 153: in dbSNP:rs217086, MIM: 245000<li>D->Y at 236: in PLS, MIM: 245000<li>V->F at 249: in PLS, MIM: 245000<li>Q->L at 252: in PLS, MIM: 245000<li>R->H at 272: in PLS, MIM: 245000<li>R->P at 272: in PLS, MIM: 245000<li>Q->R at 286: in HMS and PLS, MIM: 245000<li>C->Y at 291: in PLS, MIM: 245000<li>Y->H at 294: in PLS, MIM: 245000<li>G->D at 300: in PLS, MIM: 245000<li>G->S at 300: in PLS, MIM: 245000<li>G->S at 301: in PLS, MIM: 245000<li>G->V at 301: in PLS, MIM: 245000<li>Y->N at 304: in PLS, MIM: 245000<li>Q->R at 312: in PLS, MIM: 245000<li>E->G at 319: in PLS, MIM: 245000<li>R->C at 339: in PLS, MIM: 245000<li>Y->C at 340: in PLS, MIM: 245000<li>Y->C at 347: in PLS and JPD, MIM: 245000<li>E->K at 401, MIM: 245000<li>H->N at 405: in PLS, MIM: 245000<li>H->R at 405: in PLS, MIM: 245000<li>Y->C at 412: in JPD; dbSNP:rs28937571, MIM: 170650<li>W->C at 429: in PLS, MIM: 245000<li>E->G at 447: in PLS, MIM: 245000<li>I->V at 453: rare polymorphism; dbSNP:rs3888798, MIM: 245000</ul>								<li>Haim-Munk syndrome (HMS) [MIM:245010]</li><li>Juvenile periodontitis (JPD) [MIM:170650]</li><li>Papillon-Lefevre syndrome (PLS) [MIM:245000]</li>	<li>rs3888798</li><li>rs28937571</li><li>rs217086</li>	2
P53667	3984	<ul><li>G->A at 190: in dbSNP rsrs35827364<li>S->N at 247: in dbSNP rsrs55661242<li>R->Q at 422: in dbSNP rsrs55679316<li>F->Y at 580: in dbSNP:rs178412</ul>									<li>rs55679316</li><li>rs55661242</li><li>rs35827364</li><li>rs178412</li>	2
P53671	3985	<ul><li>G->S at 35: in dbSNP:rs5997917<li>D->N at 45: in dbSNP rsrs35923988<li>R->C at 213: in dbSNP rsrs34930775<li>P->R at 296: in dbSNP rsrs34875793<li>R->H at 381: in dbSNP:rs2229874<li>R->C at 418: in dbSNP rsrs35422808</ul>									<li>rs35422808</li><li>rs2229874</li><li>rs5997917</li><li>rs35923988</li><li>rs34875793</li><li>rs34930775</li>	2
P53673	1413	<ul><li>V->M at 36: in dbSNP:rs35520672<li>L->P at 69: in MCOPCT4; is predicted to disrupt the beta-sheet structure of the protein, MIM: 610426<li>T->M at 84: in dbSNP:rs4277, MIM: 610426<li>F->S at 94: in laminar cataract 2; modeling suggests that this substitution would significantly reduce the intrinsic stability of the crystalline monomer, MIM: 610426</ul>								Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426]	<li>rs4277</li><li>rs35520672</li>	2
P53701	3052	<ul><li>R->C at 217: in MCOPS7, MIM: 309801</ul>								Microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]		2
P53708	8516	<ul><li>V->L at 216: in dbSNP:rs7895372<li>V->L at 567<li>S->F at 577: in dbSNP:rs2298033<li>Q->P at 581: in dbSNP:rs9333269<li>R->H at 748: in dbSNP:rs9333174<li>I->V at 993: in dbSNP:rs9333241<li>A->V at 994: in dbSNP:rs1041135</ul>									<li>rs1041135</li><li>rs9333241</li><li>rs2298033</li><li>rs9333174</li><li>rs9333269</li><li>rs7895372</li>	2
P53778	6300	<ul><li>T->M at 103: in dbSNP:rs34422484<li>D->N at 230: in dbSNP:rs35396905<li>T->M at 244: in dbSNP:rs2066776</ul>									<li>rs35396905</li><li>rs34422484</li><li>rs2066776</li>	2
P53804	7267	<ul><li>M->T at 840: in dbSNP:rs1053808<li>S->T at 1063: in dbSNP:rs1133021<li>F->L at 1117: in dbSNP:rs1133022<li>N->H at 1128: in dbSNP:rs1053833<li>P->S at 1154: in dbSNP:rs1053840<li>K->M at 1289: in a breast cancer sample; somatic mutation<li>H->D at 1751: in dbSNP:rs1053966</ul>									<li>rs1133022</li><li>rs1053966</li><li>rs1133021</li><li>rs1053840</li><li>rs1053833</li><li>rs1053808</li>	2
P53814	6525	<ul><li>D->G at 455: in dbSNP:rs1064178<li>A->P at 547: in dbSNP:rs3205187<li>A->V at 559: in dbSNP:rs5997872<li>A->T at 580: in dbSNP:rs12158015<li>R->Q at 637: in a colorectal cancer sample; somatic mutation<li>A->V at 763: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3205187</li><li>rs1064178</li><li>rs12158015</li><li>rs5997872</li>	2
P53985	6566	<ul><li>S->G at 85: in dbSNP:rs11551867<li>K->E at 204: in SDLT, MIM: 245340<li>G->R at 472: in SDLT, MIM: 245340<li>E->D at 490: in dbSNP:rs1049434, MIM: 245340</ul>								Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]	<li>rs11551867</li><li>rs1049434</li>	2
P53999	10923	<ul><li>S->G at 11: in dbSNP:rs17850527</ul>									rs17850527	2
P54098	5428	<ul><li>R->P at 3: in PEOB, MIM: 258450<li>P->S at 18: in dbSNP:rs3087373, MIM: 258450<li>Q->QQ at 55, MIM: 258450<li>Q->QQQ at 55, MIM: 258450<li>R->Q at 193: in dbSNP:rs3176162, MIM: 258450<li>R->W at 227: in PEOB; sporadic case, MIM: 258450<li>T->I at 251: in PEOB; also found in MNGIE with no leukoencephalopathy, MIM: 258450<li>L->R at 304: in PEOB, MIM: 258450<li>R->L at 309: in PEOB, MIM: 258450<li>W->R at 312: in PEOB; sporadic case, MIM: 258450<li>P->S at 324: in dbSNP:rs2307437, MIM: 258450<li>G->V at 431: in PEOB; sporadic case, MIM: 258450<li>A->T at 467: in PEOB; allele T frequency of 0.6% in the Belgian population; clinical picture overlaps on a patient with the syndrome of myoclonous epilepsy and ragged red fibers , MIM: 258450<li>N->D at 468: in PEOB, MIM: 258450<li>Q->H at 497: in ataxia, MIM: 258450<li>R->C at 546: in dbSNP:rs2307447, MIM: 258450<li>R->W at 579: in PEOB; autosomal recessive, MIM: 258450<li>P->L at 587: in PEOB; also found in MNGIE, MIM: 258450<li>R->W at 627: in SANDO; sporadic case, MIM: 607459<li>E->K at 662: in dbSNP:rs2307450, MIM: 607459<li>W->S at 748: in SANDO; also found in AHS; associated with G-1143 it is the most common genetic cause of inherited ataxia in Finland, MIM: 607459<li>Y->C at 831: in PEOA1: in dbSNP rsrs41549716, MIM: 157640<li>G->S at 848: in PEOB and AHS; also in a sporadic case carrying the Q-334 mutation in the PEO1 gene, MIM: 258450<li>N->S at 864: in MNGIE, MIM: 603041<li>A->T at 889: in PEOB, MIM: 258450<li>G->D at 923: in PEOA1, MIM: 157640<li>H->Y at 932: in SANDO, MIM: 607459<li>R->H at 943: in PEOA1, MIM: 157640<li>R->C at 953: in PEOA1: in dbSNP rsrs11546842, MIM: 157640<li>Y->C at 955: in PEOA1; can underlie parkinsonism; 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate; 2-fold less accurate for basepair substitutions than wild-type, MIM: 157640<li>A->S at 957: in PEOA1, MIM: 157640<li>R->Q at 1047: in PEOB; sporadic case, MIM: 258450<li>G->R at 1051: in SANDO, MIM: 607459<li>G->V at 1076: in PEOB, MIM: 258450<li>R->C at 1096: in PEOB; sporadic case, MIM: 258450<li>S->C at 1104: in PEOB; sporadic case, MIM: 258450<li>A->T at 1105: in PEOB, MIM: 258450<li>V->I at 1106: in PEOB, MIM: 258450<li>R->W at 1142: in dbSNP:rs2307442, MIM: 258450<li>E->G at 1143: associated with S-748 it is the most common genetic cause of inherited ataxia in Finland; dbSNP:rs2307441, MIM: 258450<li>R->C at 1146: in dbSNP:rs2307440, MIM: 258450<li>S->L at 1176: in PEOA1, MIM: 157640<li>Q->H at 1236: in dbSNP:rs3087374, MIM: 157640</ul>			binding	GO:0005488			<li>Q5ZIW1</li><li>Q96RR1</li>	<li>Alpers-Huttenlocher syndrome (AHS) [MIM:203700]</li><li>Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]</li><li>Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) [MIM:603041]</li><li>Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]</li><li>Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]</li>	<li>rs41549716</li><li>rs3087374</li><li>rs2307447</li><li>rs3087373</li><li>rs2307442</li><li>rs2307437</li><li>rs2307441</li><li>rs3176162</li><li>rs11546842</li><li>rs2307450</li><li>rs2307440</li>	2
P54105	1207	<ul><li>Q->H at 20<li>M->T at 218</ul>										2
P54108	10321	<ul><li>S->P at 106: in dbSNP:rs495335<li>A->S at 134: in dbSNP:rs1864312</ul>									<li>rs495335</li><li>rs1864312</li>	2
P54132	641	<ul><li>K->R at 137: in dbSNP:rs28384988<li>T->M at 298: in dbSNP:rs28384991<li>R->Q at 591: in dbSNP:rs28385012<li>Q->R at 672: in BLM, MIM: 210900<li>I->T at 841: in BLM, MIM: 210900<li>T->I at 843: in BLM, MIM: 210900<li>P->L at 868: in dbSNP:rs11852361, MIM: 210900<li>C->R at 878: in BLM, MIM: 210900<li>G->E at 891: in BLM, MIM: 210900<li>C->Y at 901: in BLM, MIM: 210900<li>C->F at 1036: in BLM, MIM: 210900<li>A->D at 1043: in dbSNP:rs2229035, MIM: 210900<li>C->S at 1055: in BLM, MIM: 210900<li>V->I at 1205: in dbSNP:rs28385141, MIM: 210900<li>S->T at 1209: in dbSNP:rs1801256, MIM: 210900<li>E->K at 1213: in dbSNP:rs28385142, MIM: 210900<li>V->I at 1321: in dbSNP:rs7167216, MIM: 210900</ul>							<li>Q9I920</li><li>P54132</li>	Bloom syndrome (BLM) [MIM:210900]	<li>rs28385142</li><li>rs28385141</li><li>rs28384991</li><li>rs2229035</li><li>rs1801256</li><li>rs28385012</li><li>rs11852361</li><li>rs28384988</li><li>rs7167216</li>	2
P54136	5917	<ul><li>V->I at 3: in dbSNP:rs244903<li>R->G at 135: in dbSNP:rs1059443<li>F->Y at 397: in dbSNP:rs2305734</ul>									<li>rs244903</li><li>rs2305734</li><li>rs1059443</li>	2
P54219	6570	<ul><li>T->P at 4: in dbSNP:rs2270641<li>R->Q at 11: in dbSNP:rs17092144<li>A->V at 74: in dbSNP:rs17215815<li>F->C at 82: in dbSNP:rs17215822<li>F->S at 84: in dbSNP:rs17215801<li>S->T at 98: in dbSNP:rs2270637<li>A->P at 101: in dbSNP:rs17222218<li>I->T at 136: in dbSNP:rs1390938<li>G->R at 140: in dbSNP:rs17215808<li>I->M at 164: in dbSNP:rs17222092<li>I->T at 202: in dbSNP:rs17222120<li>V->I at 249: in dbSNP:rs17215759<li>L->V at 392: in dbSNP:rs17092104</ul>									<li>rs17092144</li><li>rs1390938</li><li>rs17222218</li><li>rs17215808</li><li>rs17092104</li><li>rs17215759</li><li>rs2270637</li><li>rs17222120</li><li>rs17222092</li><li>rs2270641</li><li>rs17215822</li><li>rs17215815</li><li>rs17215801</li>	2
P54252	4287	<ul><li>V->M at 212: in dbSNP:rs1048755<li>QQQQQQQQQQQQR-> at 306-318<li>Missing  at 361-376: in allele MJD1a</ul>									rs1048755	2
P54253	6310	<ul><li>H->Q at 209: in dbSNP:rs11969612<li>P->S at 753: in dbSNP:rs16885</ul>									<li>rs16885</li><li>rs11969612</li>	2
P54257	9001	<ul><li>R->K at 4: in dbSNP:rs4796604<li>T->S at 58: in dbSNP:rs4796603<li>S->L at 357<li>R->W at 437: in dbSNP rsrs11867808<li>M->T at 441: may influence the age-at-onset of Huntington disease; decreases binding to mutated HTT; influences HTT degradation: in dbSNP rsrs4523977<li>F->L at 483: in dbSNP:rs8075017<li>A->V at 488: in dbSNP:rs34853043</ul>			binding	GO:0005488			P31645		<li>rs8075017</li><li>rs34853043</li><li>rs4796603</li><li>rs4523977</li><li>rs11867808</li><li>rs4796604</li>	2
P54259	1822	<ul><li>M->I at 339: in dbSNP:rs1058045</ul>									rs1058045	2
P54277	5378	<ul><li>E->Q at 27: in dbSNP:rs5742973<li>R->K at 202: in dbSNP:rs2066459<li>M->T at 394: in incomplete HNPCC3; dbSNP:rs1145231<li>G->R at 501: in incomplete HNPCC3; dbSNP:rs1145232<li>N->S at 632: in dbSNP:rs2066456<li>E->D at 720: in dbSNP:rs2066455<li>Y->H at 793: in dbSNP:rs1145234</ul>									<li>rs1145234</li><li>rs2066459</li><li>rs2066456</li><li>rs2066455</li><li>rs1145231</li><li>rs1145232</li><li>rs5742973</li>	2
P54278	5395	<ul><li>R->Q at 20: in dbSNP:rs10254120<li>T->K at 277: in dbSNP:rs1805322<li>P->S at 470: in dbSNP:rs1805321<li>H->Q at 479<li>T->K at 485: in dbSNP:rs1805323<li>T->A at 511: in dbSNP:rs2228007<li>E->K at 541: in dbSNP:rs2228006<li>T->S at 597: may be associated with increased susceptibility to colorectal cancer; significantly reduced interaction with MLH1; dbSNP:rs1805318<li>M->I at 622: may be associated with increased susceptibility to colorectal cancer; significantly reduced interaction with MLH1; dbSNP:rs1805324<li>E->K at 705: in MMRCS; could be a rare polymorphism, MIM: 276300<li>N->S at 775: in dbSNP:rs17420802, MIM: 276300</ul>							<li>P38920</li><li>P40692</li>	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]	<li>rs2228007</li><li>rs1805324</li><li>rs10254120</li><li>rs1805318</li><li>rs17420802</li><li>rs1805321</li><li>rs2228006</li><li>rs1805323</li><li>rs1805322</li>	2
P54284	784	<ul><li>R->H at 423: in dbSNP:rs2229954</ul>									rs2229954	2
P54289	781	<ul><li>E->D at 1007: in dbSNP:rs9886043<li>D->A at 1045: in dbSNP:rs35131433</ul>									<li>rs9886043</li><li>rs35131433</li>	2
P54296	9172	<ul><li>E->K at 81: in dbSNP:rs35985218<li>T->M at 182: in dbSNP:rs17064618<li>V->L at 321: in dbSNP:rs2272720<li>V->I at 363: in dbSNP:rs34316994<li>S->Y at 601: in dbSNP:rs36089594<li>V->I at 701: in dbSNP:rs35335787<li>T->M at 776: in dbSNP:rs2294066<li>N->S at 869: in dbSNP:rs968381<li>L->F at 1022: in dbSNP:rs2280896<li>E->D at 1284: in dbSNP:rs34735757</ul>									<li>rs36089594</li><li>rs968381</li><li>rs2294066</li><li>rs34735757</li><li>rs17064618</li><li>rs2272720</li><li>rs2280896</li><li>rs35335787</li><li>rs34316994</li><li>rs35985218</li>	2
P54315	5407	<ul><li>N->D at 61: in dbSNP:rs11197744<li>S->C at 129: in a breast cancer sample; somatic mutation<li>A->V at 271: in dbSNP:rs2305205<li>E->D at 414: in dbSNP:rs2305204<li>L->P at 461: in dbSNP:rs1049125</ul>									<li>rs2305205</li><li>rs11197744</li><li>rs2305204</li><li>rs1049125</li>	2
P54368	4946	<ul><li>R->L at 32: in dbSNP:rs4667<li>G->D at 44: in dbSNP:rs28359762<li>S->F at 50: in dbSNP:rs28384673<li>S->F at 53: in dbSNP:rs2230749<li>A->V at 147</ul>									<li>rs28384673</li><li>rs2230749</li><li>rs28359762</li><li>rs4667</li>	2
P54577	8565	<ul><li>G->R at 41: in CMTDIC; partial loss of activity, MIM: 608323<li>Missing  at 153-156: in CMTDIC, MIM: 608323<li>Q->H at 170: in dbSNP:rs2128600, MIM: 608323<li>E->K at 196: in CMTDIC; partial loss of activity, MIM: 608323</ul>								Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	rs2128600	2
P54619	5571	<ul><li>T->S at 89: in dbSNP:rs1126930<li>K->N at 329: in dbSNP:rs34210356</ul>									<li>rs1126930</li><li>rs34210356</li>	2
P54646	5563	<ul><li>P->T at 371: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation<li>R->Q at 407: in a gastric adenocarcinoma sample; somatic mutation<li>S->G at 523: in a breast cancer sample; somatic mutation</ul>										2
P54652	3306	<ul><li>C->S at 191: in dbSNP rsrs45456191<li>K->E at 496: in dbSNP rsrs45447398</ul>									<li>rs45447398</li><li>rs45456191</li>	2
P54687	586	<ul><li>T->M at 59: in dbSNP:rs17374285<li>E->K at 321: in dbSNP:rs7313020<li>G->S at 330: in dbSNP:rs1057204</ul>									<li>rs7313020</li><li>rs1057204</li><li>rs17374285</li>	2
P54707	479	<ul><li>P->L at 863: in dbSNP:rs2289909</ul>									rs2289909	2
P54710	486	<ul><li>G->R at 41: in HOMG2; fails to localize to plasma membrane: in dbSNP rsrs28938168, MIM: 154020</ul>					plasma membrane	GO:0005886		Hypomagnesemia type 2 (HOMG2) [MIM:154020]	rs28938168	2
P54725	5886	<ul><li>T->A at 131: in dbSNP:rs11558955<li>R->Q at 179: in dbSNP:rs4987203<li>T->M at 200: in dbSNP:rs4987202</ul>									<li>rs4987202</li><li>rs11558955</li><li>rs4987203</li>	2
P54727	5887	<ul><li>A->V at 249: in dbSNP:rs1805329</ul>									rs1805329	2
P54753	2049	<ul><li>R->L at 168: in a lung small cell carcinoma sample; somatic mutation<li>R->C at 440: in dbSNP rsrs56029711<li>I->V at 579: in dbSNP rsrs56103851<li>I->L at 601<li>R->W at 724: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>									<li>rs56029711</li><li>rs56103851</li>	2
P54756	2044	<ul><li>N->T at 81: in dbSNP rsrs33932471<li>S->A at 235: in dbSNP rsrs55710198<li>E->Q at 330: in dbSNP rsrs56205382<li>R->Q at 417: in a lung adenocarcinoma sample; somatic mutation<li>E->K at 503: in a lung large cell carcinoma sample; somatic mutation<li>Y->C at 506: in dbSNP rsrs56074660<li>G->E at 582: in a lung adenocarcinoma sample; somatic mutation<li>A->T at 672: in dbSNP rsrs36050417<li>S->T at 673: in dbSNP rsrs56359290<li>T->I at 856: in a lung squamous cell carcinoma sample; somatic mutation<li>H->R at 959: in dbSNP rsrs56312931<li>N->S at 1032: in a lung large cell carcinoma sample; somatic mutation</ul>									<li>rs56359290</li><li>rs56074660</li><li>rs55710198</li><li>rs56205382</li><li>rs33932471</li><li>rs36050417</li><li>rs56312931</li>	2
P54760	2050	<ul><li>P->L at 67: in dbSNP rsrs34653459<li>V->I at 113: in dbSNP rsrs55866373<li>P->L at 346: in a metastatic melanoma sample; somatic mutation<li>A->V at 371: in dbSNP rsrs55720981<li>D->E at 576: in dbSNP:rs36050247<li>R->H at 678: in dbSNP rsrs55692440<li>A->T at 882: in dbSNP:rs34918225<li>R->W at 889: in a gastric adenocarcinoma sample; somatic mutation<li>E->D at 890: in dbSNP rsrs35638378</ul>									<li>rs35638378</li><li>rs34918225</li><li>rs34653459</li><li>rs55720981</li><li>rs55692440</li><li>rs55866373</li><li>rs36050247</li>	2
P54762	2047	<ul><li>M->V at 18: in dbSNP rsrs55650774<li>T->S at 87: in dbSNP:rs1042794<li>G->R at 152: in dbSNP:rs1042793<li>R->G at 367: in dbSNP:rs1042789<li>T->M at 387: in dbSNP rsrs56396912<li>R->S at 485: in dbSNP:rs1042788<li>S->T at 707: in an ovarian undifferentiated carcinoma sample; somatic mutation<li>I->V at 719: in a gastric adenocarcinoma sample; somatic mutation<li>R->Q at 743: in a gastric adenocarcinoma sample; somatic mutation<li>M->T at 847: in dbSNP:rs1042785<li>A->T at 912: in dbSNP rsrs56345346<li>T->M at 981: in dbSNP rsrs56186270</ul>									<li>rs56396912</li><li>rs1042788</li><li>rs55650774</li><li>rs1042789</li><li>rs56186270</li><li>rs1042785</li><li>rs1042794</li><li>rs1042793</li><li>rs56345346</li>	2
P54764	2043	<ul><li>R->Q at 269: in dbSNP rsrs35084379<li>G->E at 370: in a bladder carcinoma NOS sample; somatic mutation<li>S->F at 399: in a metastatic melanoma sample; somatic mutation<li>R->K at 953: in dbSNP:rs35341687</ul>							<li>O61608</li><li>O61309</li><li>O54705</li><li>Q26240</li><li>Q28969</li><li>Q9I9M2</li>		<li>rs35341687</li><li>rs35084379</li>	2
P54802	4669	<ul><li>L->F at 35: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920<li>R->W at 38: in MPS3B; decreases the enzyme activity markedly, MIM: 252920<li>F->C at 48: in MPS3B, MIM: 252920<li>F->L at 48: in MPS3B; associated with a partially degraded polypeptide in a 16-hour chase experiment suggesting that L-48 NAGLU affects the processing and stability of the gene; some L-48 NAGLU is being correctly sorted to the lysosomal compartment, MIM: 252920<li>G->S at 69: in MPS3B, MIM: 252920<li>V->G at 77: in MPS3B; decreases the enzyme activity markedly, MIM: 252920<li>G->C at 79: in MPS3B, MIM: 252920<li>G->S at 79: in MPS3B, MIM: 252920<li>G->D at 82: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920<li>Y->H at 92: in MPS3B, MIM: 252920<li>H->R at 100: in MPS3B, MIM: 252920<li>P->S at 115: in MPS3B, MIM: 252920<li>R->C at 130: in MPS3B; does not yield active enzyme, MIM: 252920<li>Y->C at 140: in MPS3B, MIM: 252920<li>Missing  at 142: in MPS3B, MIM: 252920<li>E->K at 153: in MPS3B, MIM: 252920<li>I->R at 154: in MPS3B; does not yield active enzyme, MIM: 252920<li>W->C at 156: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920<li>H->P at 227: in MPS3B, MIM: 252920<li>R->C at 234: in MPS3B, MIM: 252920<li>V->M at 241: in MPS3B, MIM: 252920<li>L->P at 242: in MPS3B; no enzyme activity, MIM: 252920<li>P->L at 243: in MPS3B, MIM: 252920<li>A->P at 246: in MPS3B; produces 12.7% residual enzyme activity, MIM: 252920<li>H->R at 248: in MPS3B, MIM: 252920<li>W->R at 268: in MPS3B, MIM: 252920<li>C->F at 277: in MPS3B, MIM: 252920<li>L->P at 280: in MPS3B, MIM: 252920<li>G->R at 292: in MPS3B, MIM: 252920<li>Y->C at 309: in MPS3B; does not yield active enzyme, MIM: 252920<li>F->L at 314: in MPS3B, MIM: 252920<li>V->F at 334: in MPS3B, MIM: 252920<li>Y->C at 335: in MPS3B; decreases the enzyme activity markedly, MIM: 252920<li>P->L at 358: in MPS3B, MIM: 252920<li>F->S at 410: in MPS3B, MIM: 252920<li>G->E at 412: in MPS3B; does not yield active enzyme, MIM: 252920<li>H->R at 414: in MPS3B; no enzyme activity, MIM: 252920<li>T->I at 437: in MPS3B, MIM: 252920<li>E->K at 446: in MPS3B; no enzyme activity, MIM: 252920<li>E->K at 452: in MPS3B, MIM: 252920<li>Y->C at 455: in MPS3B, MIM: 252920<li>W->G at 474: in MPS3B, MIM: 252920<li>R->Q at 482: in MPS3B; no enzyme activity, MIM: 252920<li>R->W at 482: in MPS3B, MIM: 252920<li>V->G at 501: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920<li>P->L at 516: in MPS3B; no enzyme activity, MIM: 252920<li>R->W at 520: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920<li>P->L at 521: in MPS3B; accounts for approximately 6% of mutations in Australasian patients with MPS3B, MIM: 252920<li>S->Y at 534: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920<li>L->P at 560: in MPS3B, MIM: 252920<li>L->R at 561: in MPS3B, MIM: 252920<li>R->P at 565: in MPS3B; does not yield active enzyme, MIM: 252920<li>R->Q at 565: in MPS3B, MIM: 252920<li>R->W at 565: in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B, MIM: 252920<li>L->P at 591: in MPS3B, MIM: 252920<li>S->G at 612: in MPS3B, MIM: 252920<li>L->F at 617: in MPS3B, MIM: 252920<li>R->C at 643: in MPS3B; accounts for approximately 20% of MPS3B alleles in a Dutch patient group, MIM: 252920<li>R->H at 643: in MPS3B, MIM: 252920<li>W->C at 649: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920<li>G->E at 650: in MPS3B, MIM: 252920<li>Y->F at 658: in MPS3B, MIM: 252920<li>A->V at 664: in MPS3B, MIM: 252920<li>R->C at 674: in MPS3B, MIM: 252920<li>R->H at 674: in MPS3B, MIM: 252920<li>R->P at 676: in MPS3B, MIM: 252920<li>L->R at 682: in MPS3B, MIM: 252920<li>E->K at 705: in MPS3B, MIM: 252920<li>G->R at 737: in dbSNP:rs86312, MIM: 252920</ul>								Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	rs86312	2
P54803	2581	<ul><li>G->R at 59: in GLD; infantile; significant reduction of activity, MIM: 245200<li>S->F at 68: in GLD; infantile; significant reduction of activity, MIM: 245200<li>R->H at 79: in GLD, MIM: 245200<li>I->M at 82: in GLD; adult; reduction of activity; when associated with V-2105, MIM: 245200<li>G->D at 111: in GLD, MIM: 245200<li>G->S at 111: in GLD, MIM: 245200<li>T->A at 112: in GLD; adult, MIM: 245200<li>M->L at 117: in GLD; adult, MIM: 245200<li>R->C at 184: in dbSNP:rs1805078, MIM: 245200<li>D->V at 187: in GLD, MIM: 245200<li>G->A at 194: in GLD, MIM: 245200<li>D->N at 248: in dbSNP rsrs34362748, MIM: 245200<li>I->T at 250: in GLD; late infantile, MIM: 245200<li>A->T at 263: in GLD, MIM: 245200<li>T->I at 278: in GLD; infantile; significant reduction of activity, MIM: 245200<li>G->S at 284: in GLD, MIM: 245200<li>G->D at 286: in GLD, MIM: 245200<li>N->T at 295: in GLD, MIM: 245200<li>S->F at 303: in GLD; infantile, MIM: 245200<li>I->V at 305: in dbSNP:rs1805079, MIM: 245200<li>Y->C at 314: in GLD, MIM: 245200<li>P->A at 318: in GLD, MIM: 245200<li>Y->C at 335: in GLD; infantile; significant reduction of activity, MIM: 245200<li>R->W at 396: in GLD; bilateral cherry red spots, MIM: 245200<li>P->L at 400: in GLD: in dbSNP rsrs17687109, MIM: 245200<li>W->G at 426: in GLD; infantile; significant reduction of activity, MIM: 245200<li>T->S at 468: in GLD: in dbSNP rsrs34134328, MIM: 245200<li>F->S at 514: in GLD, MIM: 245200<li>T->M at 529: in GLD; infantile, MIM: 245200<li>R->C at 531: in GLD, MIM: 245200<li>R->H at 531: in GLD; infantile; significant reduction of activity, MIM: 245200<li>D->N at 544: in GLD; Arab patients, MIM: 245200<li>G->R at 553: in GLD; loss of activity, MIM: 245200<li>I->T at 562: common polymorphism; dbSNP:rs398607, MIM: 245200<li>V->G at 566: in GLD, MIM: 245200<li>Y->S at 567: in GLD; belgian patient, MIM: 245200<li>A->S at 592: in GLD, MIM: 245200<li>I->S at 599: in GLD; infantile; Druze patients, MIM: 245200<li>L->S at 634: in GLD; adult, MIM: 245200<li>A->T at 641: significant reduction of activity when associated with T-562; dbSNP:rs421262, MIM: 245200<li>L->R at 645: in GLD; adult, MIM: 245200<li>T->R at 668: in GLD; infantile; significant reduction of activity, MIM: 245200</ul>								Globoid cell leukodystrophy (GLD) [MIM:245200]	<li>rs421262</li><li>rs17687109</li><li>rs34362748</li><li>rs398607</li><li>rs1805079</li><li>rs34134328</li><li>rs1805078</li>	2
P54819	204	<ul><li>R->W at 103: in RDYS, MIM: 267500<li>D->G at 165: in RDYS, MIM: 267500<li>A->T at 209: in dbSNP:rs12116440, MIM: 267500</ul>								Reticular dysgenesis (RDYS) [MIM:267500]	rs12116440	2
P54840	2998	<ul><li>N->S at 39: in GSD0, MIM: 240600<li>A->P at 339: in GSD0, MIM: 240600<li>H->D at 446: in GSD0, MIM: 240600<li>P->Q at 479: in GSD0, MIM: 240600<li>S->P at 483: in GSD0, MIM: 240600<li>M->R at 491: in GSD0, MIM: 240600</ul>								Glycogen storage disease type 0 (GSD0) [MIM:240600]		2
P54845	4901	<ul><li>S->T at 50: in RP27; increased transactivation activity, MIM: 162080</ul>								Retinitis pigmentosa type 27 (RP27) [MIM:162080]		2
P54849	2012	<ul><li>S->N at 57: in dbSNP:rs34412222</ul>									rs34412222	2
P54852	2014	<ul><li>I->V at 125: in dbSNP:rs4893</ul>									rs4893	2
P54855	7366	<ul><li>D->Y at 85: in dbSNP:rs1902023<li>K->T at 523: in dbSNP:rs4148269</ul>									<li>rs4148269</li><li>rs1902023</li>	2
P54868	3158	<ul><li>V->M at 54: in HMG-CoA synthase deficiency: in dbSNP rsrs28937320, MIM: 605911<li>Y->C at 167: in HMG-CoA synthase deficiency, MIM: 605911<li>F->L at 174: in HMG-CoA synthase deficiency; reduced peptide level; no enzymatic activity, MIM: 605911<li>G->R at 212: in HMG-CoA synthase deficiency, MIM: 605911<li>R->H at 500: in HMG-CoA synthase deficiency, MIM: 605911</ul>							<li>Q01581</li><li>P22791</li><li>P54868</li><li>P54869</li><li>P13704</li><li>Q5R7Z9</li><li>P54839</li><li>P54874</li><li>P54872</li><li>P54873</li><li>P54871</li><li>Q8JZK9</li><li>P23228</li><li>P17425</li><li>O02734</li><li>Q2KIE6</li>	HMG-CoA synthase deficiency [MIM:605911]	rs28937320	2
P54886	5832	<ul><li>R->Q at 84: in P5CS deficiency; reduction of activity, MIM: 138250<li>T->I at 299: in dbSNP:rs2275272, MIM: 138250<li>S->Y at 372: in dbSNP:rs3765571, MIM: 138250</ul>							<li>O04015</li><li>P32296</li><li>Q9Z110</li><li>Q96480</li><li>P54889</li><li>O04226</li><li>O65361</li><li>P54886</li>	Delta-1-pyrroline-5-carboxylate synthetase deficiency (P5CS deficiency) [MIM:138250]	<li>rs3765571</li><li>rs2275272</li>	2
P55000	57152	<ul><li>W->R at 15: in MDM; no expression of the protein, MIM: 248300<li>R->H at 71: in MDM; reduced expression of the protein, MIM: 248300<li>C->R at 77: in MDM, MIM: 248300<li>G->R at 86: in MDM; reduced expression of the protein; dbSNP:rs28937888, MIM: 248300<li>C->Y at 99: in MDM, MIM: 248300</ul>								Mal de Meleda (MDM) [MIM:248300]	rs28937888	2
P55008	199	<ul><li>G->R at 14: in dbSNP:rs2736182</ul>									rs2736182	2
P55010	1983	<ul><li>K->M at 418: in a breast cancer sample; somatic mutation</ul>										2
P55017	6559	<ul><li>T->M at 60: in GS, MIM: 263800<li>D->N at 62: in GS, MIM: 263800<li>E->K at 68: in GS, MIM: 263800<li>H->N at 69: in GS, MIM: 263800<li>H->Y at 90: in GS, MIM: 263800<li>R->H at 145: in GS, MIM: 263800<li>V->M at 153: in GS, MIM: 263800<li>I->F at 154: in GS, MIM: 263800<li>R->Q at 158: in GS, MIM: 263800<li>T->M at 163: in GS, MIM: 263800<li>W->R at 172: in GS, MIM: 263800<li>S->L at 178: in GS, MIM: 263800<li>T->K at 180: in GS, MIM: 263800<li>G->D at 186: in GS, MIM: 263800<li>R->Q at 209: in GS; dbSNP:rs28936388, MIM: 263800<li>R->W at 209: in GS: in dbSNP rsrs28936388, MIM: 263800<li>L->P at 215: in GS, MIM: 263800<li>A->T at 226: in GS, MIM: 263800<li>G->D at 230: in GS, MIM: 263800<li>R->H at 261: in GS, MIM: 263800<li>G->A at 264: in dbSNP:rs1529927, MIM: 263800<li>S->Y at 283: in GS, MIM: 263800<li>K->R at 284: in GS, MIM: 263800<li>T->P at 304: in GS, MIM: 263800<li>A->V at 313: in GS, MIM: 263800<li>G->V at 316: in GS, MIM: 263800<li>R->W at 321: in GS, MIM: 263800<li>R->W at 334: in GS, MIM: 263800<li>G->A at 342: in GS, MIM: 263800<li>P->L at 349: in GS, MIM: 263800<li>G->V at 374: in GS, MIM: 263800<li>R->C at 399: in GS, MIM: 263800<li>C->R at 421: in GS; dbSNP:rs28936387, MIM: 263800<li>G->S at 439: in GS, MIM: 263800<li>G->E at 463: in GS, MIM: 263800<li>A->T at 464: in GS, MIM: 263800<li>K->E at 478: in GS, MIM: 263800<li>D->N at 486: in GS, MIM: 263800<li>G->C at 496: in GS, MIM: 263800<li>L->P at 542: in GS, MIM: 263800<li>S->L at 555: in GS, MIM: 263800<li>P->H at 560: in GS, MIM: 263800<li>Missing  at 561: in GS, MIM: 263800<li>A->E at 569: in GS, MIM: 263800<li>A->V at 569: in GS, MIM: 263800<li>V->M at 578: in GS, MIM: 263800<li>A->V at 588: in GS, MIM: 263800<li>G->S at 613: in GS, MIM: 263800<li>S->L at 615: in GS, MIM: 263800<li>S->W at 615: in GS, MIM: 263800<li>L->P at 623: in GS, MIM: 263800<li>G->V at 630: in GS: in dbSNP rsrs28936389, MIM: 263800<li>R->C at 642: in GS, MIM: 263800<li>R->G at 642: in GS, MIM: 263800<li>R->H at 642: in GS, MIM: 263800<li>P->L at 643: in GS, MIM: 263800<li>T->R at 649: in GS, MIM: 263800<li>R->C at 655: in GS, MIM: 263800<li>R->H at 655: in GS, MIM: 263800<li>R->L at 655: in GS, MIM: 263800<li>M->I at 672: in GS, MIM: 263800<li>V->L at 677: in GS, MIM: 263800<li>V->M at 677: in GS, MIM: 263800<li>A->T at 728: in dbSNP:rs36049418, MIM: 263800<li>G->V at 729: in GS, MIM: 263800<li>G->R at 731: in GS, MIM: 263800<li>L->R at 738: in GS, MIM: 263800<li>G->R at 741: in GS, MIM: 263800<li>L->H at 849: in GS, MIM: 263800<li>L->P at 850: in GS, MIM: 263800<li>R->C at 852: in GS, MIM: 263800<li>R->H at 852: in GS, MIM: 263800<li>R->S at 852: in GS, MIM: 263800<li>G->S at 867: in GS, MIM: 263800<li>R->H at 871: in GS, MIM: 263800<li>R->Q at 904: in dbSNP:rs11643718, MIM: 263800<li>R->C at 919: increases sodium transport; dbSNP:rs12708965, MIM: 263800<li>R->Q at 955: in GS, MIM: 263800<li>R->G at 958: in GS, MIM: 263800<li>C->Y at 985: in GS, MIM: 263800</ul>	sodium transport	GO:0006814						Gitelman syndrome (GS) [MIM:263800]	<li>rs28936387</li><li>rs11643718</li><li>rs28936389</li><li>rs28936388</li><li>rs1529927</li><li>rs36049418</li>	2
P55040	2669	<ul><li>R->G at 43: in dbSNP:rs2170363</ul>									rs2170363	2
P55042	6236	<ul><li>Q->P at 66: in dbSNP:rs7198458</ul>									rs7198458	2
P55055	7376	<ul><li>S->F at 2: in dbSNP:rs41379547</ul>									rs41379547	2
P55056	346	<ul><li>L->P at 36: in dbSNP:rs1132899<li>G->D at 52<li>P->Q at 75: in a breast cancer sample; somatic mutation<li>L->R at 96: in dbSNP:rs5167<li>Q->L at 126: in dbSNP:rs5168</ul>									<li>rs5168</li><li>rs1132899</li><li>rs5167</li>	2
P55058	5360	<ul><li>S->Y at 124: in dbSNP:rs11569636<li>R->Q at 282: in dbSNP rsrs56126980<li>R->H at 372<li>R->W at 380: in dbSNP:rs6065903<li>M->I at 425: in dbSNP:rs11569675<li>F->L at 444: in dbSNP:rs1804161<li>T->K at 487: in dbSNP:rs1056929</ul>									<li>rs11569675</li><li>rs6065903</li><li>rs1056929</li><li>rs56126980</li><li>rs1804161</li><li>rs11569636</li>	2
P55060	1434	<ul><li>I->V at 754: in dbSNP:rs2229042<li>C->F at 842: in a colorectal cancer sample; somatic mutation<li>V->L at 968: in dbSNP:rs3505</ul>									<li>rs3505</li><li>rs2229042</li>	2
P55072	7415	<ul><li>R->G at 95: in IBMPFD, MIM: 167320<li>R->C at 155: in IBMPFD; also in one patient without evidence of Paget disease of the bone, MIM: 167320<li>R->H at 155: in IBMPFD, MIM: 167320<li>R->P at 155: in IBMPFD, MIM: 167320<li>R->H at 159: in IBMPFD; without frontotemporal dementia, MIM: 167320<li>R->Q at 191: in IBMPFD, MIM: 167320<li>A->E at 232: in IBMPFD, MIM: 167320</ul>								Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]		2
P55084	3032	<ul><li>G->D at 59: in TFP deficiency, MIM: 609015<li>R->C at 61: in TFP deficiency, MIM: 609015<li>R->H at 61: in TFP deficiency, MIM: 609015<li>R->G at 117: in TFP deficiency, MIM: 609015<li>A->V at 119: in a breast cancer sample; somatic mutation, MIM: 609015<li>L->P at 121: in TFP deficiency, MIM: 609015<li>T->P at 133: in TFP deficiency, MIM: 609015<li>P->S at 209: in dbSNP:rs17851200, MIM: 609015<li>D->G at 242: in TFP deficiency, MIM: 609015<li>R->H at 247: in TFP deficiency, MIM: 609015<li>Missing  at 259-270: in TFP deficiency, MIM: 609015<li>D->G at 263: in TFP deficiency, MIM: 609015<li>G->D at 280: in TFP deficiency, MIM: 609015<li>P->L at 294: in TFP deficiency, MIM: 609015<li>P->R at 294: in TFP deficiency, MIM: 609015<li>G->S at 301: in TFP deficiency, MIM: 609015<li>R->K at 444: in TFP deficiency, MIM: 609015</ul>							<li>P10274</li><li>P0C210</li><li>Q09SZ9</li><li>Q0R5R3</li><li>P03353</li><li>Q9HCM9</li><li>P14074</li>	Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	rs17851200	2
P55085	2150	<ul><li>S->F at 21: in dbSNP:rs2243072<li>N->S at 30: in dbSNP:rs616235<li>R->Q at 270: in dbSNP:rs2243062<li>T->A at 291: in dbSNP:rs2243083</ul>									<li>rs616235</li><li>rs2243062</li><li>rs2243083</li><li>rs2243072</li>	2
P55103	3626	<ul><li>R->Q at 322: in dbSNP:rs2229357</ul>									rs2229357	2
P55157	4547	<ul><li>Q->H at 95<li>E->D at 98: in dbSNP:rs2306986<li>I->T at 128: in dbSNP:rs3816873<li>N->S at 166: in dbSNP:rs3792683<li>V->I at 168: rare polymorphism<li>Q->E at 244: in dbSNP:rs17599091<li>H->Q at 297: in dbSNP:rs2306985<li>E->Q at 354: in dbSNP:rs12933<li>D->A at 384: in dbSNP:rs17029215<li>R->H at 540: in ABL; loss of activity, MIM: 200100<li>S->I at 590: in ABL, MIM: 200100<li>G->E at 746: in ABL, MIM: 200100<li>N->Y at 780: in ABL; loss of activity, MIM: 200100</ul>							<li>P11681</li><li>P00521</li><li>Q00022</li><li>P10447</li><li>P00519</li>	Abetalipoproteinemia (ABL) [MIM:200100]	<li>rs17599091</li><li>rs17029215</li><li>rs3816873</li><li>rs2306986</li><li>rs2306985</li><li>rs12933</li><li>rs3792683</li>	2
P55160	3071	<ul><li>S->L at 402: in dbSNP:rs2270581</ul>									rs2270581	2
P55198	4302	<ul><li>A->T at 198: in dbSNP:rs2241012</ul>									rs2241012	2
P55199	8178	<ul><li>S->N at 297: in dbSNP:rs2303694<li>R->W at 387: in dbSNP:rs35245196</ul>									<li>rs35245196</li><li>rs2303694</li>	2
P55201	7862	<ul><li>G->E at 1117: in dbSNP:rs1042294<li>H->Q at 1193: in dbSNP:rs36081837</ul>									<li>rs36081837</li><li>rs1042294</li>	2
P55210	840	<ul><li>D->E at 4: in dbSNP:rs11593766<li>D->E at 255: in dbSNP:rs2227310</ul>									<li>rs2227310</li><li>rs11593766</li>	2
P55211	842	<ul><li>A->V at 28: in dbSNP:rs1052571<li>S->L at 99: in dbSNP:rs4646008<li>T->I at 102: in dbSNP:rs2308941<li>L->V at 106: in dbSNP:rs2308938<li>E->D at 114: in dbSNP:rs2020897<li>R->H at 173: in dbSNP:rs2308950<li>G->R at 176: in dbSNP:rs2308949<li>I->M at 185: in dbSNP:rs9282624<li>R->C at 192: in dbSNP:rs2308939<li>Q->R at 221: in dbSNP:rs1052576</ul>									<li>rs2308939</li><li>rs2308938</li><li>rs1052576</li><li>rs2308949</li><li>rs2308950</li><li>rs1052571</li><li>rs9282624</li><li>rs2308941</li><li>rs2020897</li><li>rs4646008</li>	2
P55212	839	<ul><li>E->K at 35: in dbSNP:rs11574697<li>A->T at 109: in dbSNP:rs5030674<li>T->S at 182: in dbSNP:rs5030593</ul>									<li>rs5030674</li><li>rs11574697</li><li>rs5030593</li>	2
P55265	103	<ul><li>G->R at 100: in dbSNP:rs1466731<li>K->R at 384: in dbSNP:rs2229857<li>Y->C at 587: in dbSNP:rs17843865<li>E->V at 806: in a breast cancer sample; somatic mutation<li>L->P at 923: in DSH: in dbSNP rsrs28936680, MIM: 127400<li>C->F at 966: in DSH, MIM: 127400<li>R->W at 1155: in DSH, MIM: 127400<li>F->S at 1165: in DSH: in dbSNP rsrs28936681, MIM: 127400</ul>								Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]	<li>rs2229857</li><li>rs17843865</li><li>rs28936681</li><li>rs28936680</li><li>rs1466731</li>	2
P55268	3913	<ul><li>R->Q at 246: in congenital nephrotic syndrome; without ocular abnormalities, MIM: 609049<li>R->W at 246: in Pierson syndrome, MIM: 609049<li>C->R at 321: in congenital nephrotic syndrome; with mild ocular abnormalities, MIM: 609049<li>E->K at 987: in dbSNP:rs34759087, MIM: 609049<li>N->K at 1380: in congenital nephrotic syndrome; with mild ocular abnormalities; associated with F-1393, MIM: 609049<li>L->F at 1393: in congenital nephrotic syndrome; with mild ocular abnormalities; associated with K-1380, MIM: 609049</ul>								<li>Pierson syndrome [MIM:609049]</li><li>Congenital nephrotic syndrome [MIM:609049]</li>	rs34759087	2
P55283	1002	<ul><li>A->V at 141: in dbSNP:rs34937312<li>K->R at 625: in dbSNP:rs6142884</ul>									<li>rs34937312</li><li>rs6142884</li>	2
P55287	1009	<ul><li>T->M at 255: in dbSNP:rs35195<li>M->I at 275: in dbSNP:rs1130821<li>S->A at 373: in dbSNP:rs35213</ul>									<li>rs35195</li><li>rs35213</li><li>rs1130821</li>	2
P55289	1010	<ul><li>V->M at 68: in dbSNP:rs4371716<li>E->K at 86: in dbSNP:rs7236<li>I->V at 284: in dbSNP:rs17328673<li>I->T at 475: in dbSNP:rs12108814</ul>									<li>rs4371716</li><li>rs17328673</li><li>rs7236</li><li>rs12108814</li>	2
P55290	1012	<ul><li>L->S at 121: in dbSNP:rs7197352</ul>									rs7197352	2
P55317	3169	<ul><li>A->G at 72<li>A->T at 83: in dbSNP rsrs7144658<li>Missing at 125<li>R->Q at 186<li>S->N at 449</ul>									rs7144658	2
P55318	3171	<ul><li>G->R at 91</ul>										2
P55347	5316	<ul><li>R->H at 126: in dbSNP:rs9976017<li>T->A at 216: in dbSNP:rs17115709<li>V->I at 265: in a colorectal cancer sample; somatic mutation</ul>									<li>rs17115709</li><li>rs9976017</li>	2
P55735	6396	<ul><li>S->L at 172: in dbSNP:rs34078590</ul>									rs34078590	2
P55769	4809	<ul><li>T->N at 19: in dbSNP:rs1802521</ul>									rs1802521	2
P55771	5083	<ul><li>G->S at 51: in oligodontia, MIM: 604625<li>A->P at 240: in dbSNP:rs4904210, MIM: 604625</ul>								Oligodontia [MIM:604625]	rs4904210	2
P55773	6368	<ul><li>M->V at 106: in dbSNP:rs1003645</ul>									rs1003645	2
P55808	7499	<ul><li>D->N at 60: in dbSNP:rs5939319</ul>									rs5939319	2
P55809	5019	<ul><li>T->M at 58<li>V->E at 133: in ketoacidosis, MIM: 245050<li>G->E at 219: in ketoacidosis, MIM: 245050<li>V->M at 221: in ketoacidosis, MIM: 245050<li>G->E at 324: in ketoacidosis, MIM: 245050<li>C->F at 456: in ketoacidosis, MIM: 245050</ul>								Ketoacidosis [MIM:245050]		2
P55822	6450	<ul><li>V->A at 188: in dbSNP:rs9974333</ul>									rs9974333	2
P55851	7351	<ul><li>A->V at 55: in dbSNP:rs660339<li>R->Q at 76: in dbSNP:rs45541732<li>R->Q at 154: in dbSNP:rs45486692<li>A->G at 268: in dbSNP:rs45490393<li>S->C at 282: in dbSNP:rs45596837</ul>									<li>rs45596837</li><li>rs660339</li><li>rs45490393</li><li>rs45541732</li><li>rs45486692</li>	2
P55854	6612	<ul><li>P->S at 38: in dbSNP:rs1051311</ul>									rs1051311	2
P55884	8662	<ul><li>S->P at 64: in dbSNP:rs9690787<li>D->E at 793: in dbSNP:rs1063257</ul>									<li>rs1063257</li><li>rs9690787</li>	2
P55895	5897	<ul><li>C->W at 41: in OS, MIM: 603554<li>T->N at 77: in CHIDG; reduced recombination activity, MIM: 233650<li>R->Q at 229: in T, MIM: 601457<li>M->R at 285: in OS, MIM: 603554<li>E->G at 293: in dbSNP:rs16929093, MIM: 603554<li>G->A at 451: in CHIDG; reduced recombination activity, MIM: 233650<li>C->Y at 478: in T, MIM: 601457</ul>								<li>Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]</li><li>Omenn syndrome (OS) [MIM:603554]</li><li>Severe combined immunodeficiency, autosomal recessive T cell-negative, B-cell-negative, NK cell-positive (T(-)B(-)NK(+)SCID) [MIM:601457]</li>	rs16929093	2
P55916	7352	<ul><li>V->M at 9: in dbSNP:rs8179180<li>R->W at 70: in severe obesity with type 2 diabetes: in dbSNP rsrs17848368<li>V->I at 102: in obesity; dbSNP:rs2229707</ul>									<li>rs17848368</li><li>rs2229707</li><li>rs8179180</li>	2
P55957	637	<ul><li>S->G at 10: in dbSNP:rs8190315<li>H->Q at 162: in dbSNP:rs17853595</ul>									<li>rs8190315</li><li>rs17853595</li>	2
P56159	2674	<ul><li>Y->N at 85: in dbSNP:rs8192662<li>T->A at 366: in dbSNP:rs2072276<li>L->R at 371: may be involved in congenital central hypoventilation syndrome</ul>									<li>rs8192662</li><li>rs2072276</li>	2
P56177	1745	<ul><li>S->C at 136: in dbSNP:rs17853565</ul>									rs17853565	2
P56178	1749	<ul><li>S->R at 234: in dbSNP:rs35273378</ul>									rs35273378	2
P56180	7179	<ul><li>R->Q at 144: in a breast cancer sample; somatic mutation<li>P->L at 470: in dbSNP:rs150482</ul>									rs150482	2
P56182	8568	<ul><li>I->V at 194: in dbSNP:rs34224504<li>K->R at 326: in dbSNP:rs915770</ul>									<li>rs34224504</li><li>rs915770</li>	2
P56192	4141	<ul><li>A->D at 683: in dbSNP:rs1054403</ul>									rs1054403	2
P56199	3672	<ul><li>T->M at 480: in dbSNP:rs4145748<li>V->I at 670: in dbSNP:rs2279587<li>I->M at 961: in dbSNP:rs12520591<li>E->G at 1108: in dbSNP:rs988574</ul>									<li>rs2279587</li><li>rs988574</li><li>rs12520591</li><li>rs4145748</li>	2
P56279	8115	<ul><li>V->I at 56: in dbSNP:rs17093294</ul>									rs17093294	2
P56282	5427	<ul><li>H->P at 84: in dbSNP rsrs34857719<li>L->V at 456: in dbSNP:rs34574266<li>P->L at 514: in dbSNP rsrs45515094</ul>									<li>rs34574266</li><li>rs45515094</li><li>rs34857719</li>	2
P56373	5024	<ul><li>A->V at 383: in dbSNP:rs2276038</ul>									rs2276038	2
P56378	9556	<ul><li>I->V at 9: in dbSNP:rs1053419</ul>									rs1053419	2
P56470	3960	<ul><li>T->M at 16: in dbSNP:rs8106404</ul>									rs8106404	2
P56524	9759	<ul><li>P->R at 727: in a breast cancer sample; somatic mutation</ul>										2
P56539	859	<ul><li>V->L at 14: in SIDS, MIM: 272120<li>R->Q at 27: in hyperCKmia, RMD, LGMD1C and distal myopathy, MIM: 606072<li>D->E at 28: in RMD and LGMD1C, MIM: 606072<li>P->L at 29: in hyperCKmia, MIM: 123320<li>N->K at 33: in LGMD1C and distal myopathy, MIM: 607801<li>V->E at 44: in LGMD1C, MIM: 607801<li>A->T at 46: in LGMD1C and RMD; decreased surface expression of the CAV3 protein, MIM: 606072<li>A->V at 46: in RMD, MIM: 606072<li>S->G at 53: in RMD, MIM: 606072<li>G->S at 56, MIM: 606072<li>V->M at 57: in hyperCKmia, MIM: 123320<li>S->R at 61: in a patient with mild proximal myopathy, MIM: 123320<li>Missing  at 64-66: in LGMD1C, MIM: 123320<li>T->P at 64: in LGMD1C, MIM: 607801<li>T->S at 64: in CMH, MIM: 192600<li>C->W at 72, MIM: 192600<li>T->M at 78: in LQT9 and SIDS, MIM: 272120<li>L->R at 79: in LQT9 and SIDS, MIM: 272120<li>A->T at 85: in LQT9, MIM: 611818<li>L->P at 87: in RMD; dbSNP:rs28936685, MIM: 606072<li>A->T at 93: in RMD; dbSNP:rs28936686, MIM: 606072<li>F->C at 97: in LQT9; increase in late sodium current, MIM: 611818<li>Missing  at 97: in hyperCKmia, MIM: 611818<li>P->L at 105: in LGMD1C and RMD, MIM: 606072<li>R->H at 126, MIM: 606072<li>S->R at 141: in LQT9; increase in late sodium current, MIM: 611818</ul>							<li>Q3ZDQ5</li><li>Q2KI43</li><li>P56539</li>	<li>Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]</li><li>HyperCKmia [MIM:123320]</li><li>Long QT syndrome type 9 (LQT9) [MIM:611818]</li><li>Rippling muscle disease (RMD) [MIM:606072]</li><li>Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]</li><li>Sudden infant death syndrome (SIDS) [MIM:272120]</li>	<li>rs28936686</li><li>rs28936685</li>	2
P56545	1488	<ul><li>E->D at 47: in dbSNP:rs3198926</ul>									rs3198926	2
P56556	4700	<ul><li>A->V at 9: in dbSNP:rs1801311</ul>									rs1801311	2
P56589	8504	<ul><li>Q->R at 82: in dbSNP:rs35220041<li>G->E at 138: in ZWS, MIM: 214100</ul>								Zellweger syndrome (ZwS) [MIM:214100]	rs35220041	2
P56645	8863	<ul><li>V->G at 639: associated with delayed sleep phase syndrome : in dbSNP rsrs10462020<li>P->L at 827: in dbSNP:rs228696<li>P->A at 856: in dbSNP:rs228697<li>A->T at 1007: in dbSNP:rs1776342<li>T->I at 1010: in dbSNP:rs12033719<li>M->T at 1028: in dbSNP:rs2640909<li>S->C at 1081: in dbSNP:rs2640905<li>H->R at 1149: in dbSNP:rs10462021</ul>	sleep	GO:0030431							<li>rs10462021</li><li>rs1776342</li><li>rs10462020</li><li>rs2640909</li><li>rs12033719</li><li>rs228696</li><li>rs228697</li><li>rs2640905</li>	2
P56693	6663	<ul><li>S->T at 135: in Yemenite deaf-blind hypopigmentation syndrome, MIM: 601706<li>R->RLR at 161: in WS4, MIM: 601706</ul>								Yemenite deaf-blind hypopigmentation syndrome [MIM:601706]		2
P56696	9132	<ul><li>L->H at 274: in DFNA2, MIM: 600101<li>W->S at 276: in DFNA2, MIM: 600101<li>L->S at 281: in DFNA2, MIM: 600101<li>G->C at 285: in DFNA2; loss of potassium selectivity of the pore: in dbSNP rsrs28937588, MIM: 600101<li>G->S at 285: in DFNA2; no current : in dbSNP rsrs28937588, MIM: 600101<li>G->S at 321: in DFNA2: in dbSNP rsrs28939710, MIM: 600101</ul>					pore	GO:0046930		Non-syndromic sensorineural deafness autosomal dominant type 2 (DFNA2) [MIM:600101]	<li>rs28939710</li><li>rs28937588</li>	2
P56705	54361	<ul><li>L->P at 12: in RKH syndrome; unable to suppress steroidogenesis in an ovarian adenocarcinoma cell line resulting in increased androgen production, MIM: 277000<li>R->C at 83: in RKH syndrome; with androgen excess, normal kidney size and location; unable to suppress expression of steroidogenic enzymes in ovarian; impairs protein secretion, MIM: 277000<li>A->V at 114: in SERKAL; reduced transcript levels, MIM: 611812<li>E->G at 216: in RKH syndrome; unable to suppress expression of steroidogenic enzymes in ovarian and adrenal cell lines, MIM: 277000<li>P->L at 277: in dbSNP:rs34228276, MIM: 277000</ul>	<li>steroidogenesis</li><li>protein secretion</li>	<li>GO:0006694</li><li>GO:0009306</li>						<li>Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]</li><li>Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]</li>	rs34228276	2
P56715	6101	<ul><li>Y->C at 251: in dbSNP:rs16920614<li>T->M at 752: in dbSNP:rs28399531<li>R->H at 872: in dbSNP:rs444772<li>V->L at 945: in dbSNP:rs16920621<li>N->Y at 985: in dbSNP:rs2293869<li>R->Q at 1595: in dbSNP:rs35084330<li>A->T at 1670: in dbSNP:rs446227<li>S->P at 1691: in dbSNP:rs414352<li>C->Y at 2033</ul>									<li>rs16920621</li><li>rs16920614</li><li>rs2293869</li><li>rs446227</li><li>rs414352</li><li>rs35084330</li><li>rs444772</li><li>rs28399531</li>	2
P56730	8492	<ul><li>A->S at 606: in dbSNP:rs28661939<li>R->Q at 833: in dbSNP:rs17594503</ul>									<li>rs17594503</li><li>rs28661939</li>	2
P56747	9074	<ul><li>I->V at 143: in dbSNP:rs2257295</ul>									rs2257295	2
P56748	9073	<ul><li>T->A at 25: in dbSNP:rs1557294<li>T->A at 129: in dbSNP:rs685967<li>S->P at 151: in dbSNP:rs686364</ul>									<li>rs686364</li><li>rs1557294</li><li>rs685967</li>	2
P56750	26285	<ul><li>A->T at 82: in dbSNP:rs35531957</ul>									rs35531957	2
P56817	23621	<ul><li>R->C at 481: in dbSNP:rs539765</ul>									rs539765	2
P56851	64184	<ul><li>L->V at 5: in dbSNP:rs3827906</ul>									rs3827906	2
P56856	51208	<ul><li>M->L at 149: in dbSNP:rs17204075</ul>									rs17204075	2
P56945	9564	<ul><li>S->T at 407: in a breast cancer sample; somatic mutation</ul>										2
P56975	10718	<ul><li>S->R at 472: in dbSNP:rs2295934<li>K->N at 552: in dbSNP:rs17101193</ul>									<li>rs2295934</li><li>rs17101193</li>	2
P57052	54033	<ul><li>L->V at 116: in dbSNP:rs409782</ul>									rs409782	2
P57054	51227	<ul><li>Y->C at 118: in dbSNP:rs16994704<li>R->S at 136: in dbSNP:rs2276231</ul>									<li>rs2276231</li><li>rs16994704</li>	2
P57057	54020	<ul><li>D->N at 247<li>I->V at 414: in dbSNP:rs228104</ul>									rs228104	2
P57058	30811	<ul><li>R->W at 157: in dbSNP rsrs35133981<li>R->C at 591: in dbSNP:rs10775648<li>E->K at 625: in dbSNP rsrs56021554<li>M->T at 648: in dbSNP rsrs56240027</ul>									<li>rs56240027</li><li>rs56021554</li><li>rs35133981</li><li>rs10775648</li>	2
P57059	150094	<ul><li>G->S at 15: in dbSNP:rs3746951<li>D->N at 142: in dbSNP:rs45491503<li>G->S at 211: in a glioblastoma multiforme sample; somatic mutation<li>R->W at 430: in dbSNP:rs34164089<li>G->D at 469: in a metastatic melanoma sample; somatic mutation<li>A->V at 615: in dbSNP:rs430554<li>P->L at 696: in dbSNP rsrs56386767<li>A->V at 725: in dbSNP rsrs35596465</ul>									<li>rs45491503</li><li>rs56386767</li><li>rs3746951</li><li>rs430554</li><li>rs34164089</li><li>rs35596465</li>	2
P57071	63977	<ul><li>V->I at 1342: in dbSNP:rs3819158<li>T->S at 1376: in dbSNP:rs2236695<li>S->P at 1481: in dbSNP:rs3850706</ul>									<li>rs2236695</li><li>rs3819158</li><li>rs3850706</li>	2
P57075	53347	<ul><li>S->G at 18: in dbSNP:rs2277798<li>L->F at 28: in dbSNP:rs2277800<li>Q->R at 286: in dbSNP:rs13048049<li>D->E at 466: in dbSNP:rs17114930</ul>									<li>rs2277798</li><li>rs17114930</li><li>rs2277800</li><li>rs13048049</li>	2
P57077	56911	<ul><li>I->V at 112: in dbSNP:rs3746843</ul>									rs3746843	2
P57078		<ul><li>A->G at 12: in dbSNP:rs6586239<li>S->N at 177: in dbSNP:rs12482626<li>I->N at 462<li>V->M at 463<li>N->Y at 562<li>R->H at 669<li>P->S at 749</ul>									<li>rs6586239</li><li>rs12482626</li>	2
P57081	10785	<ul><li>K->N at 71: in dbSNP:rs2248490<li>P->S at 266: in dbSNP:rs15736<li>R->Q at 390: in dbSNP:rs6586250</ul>									<li>rs6586250</li><li>rs2248490</li><li>rs15736</li>	2
P57082	9496	<ul><li>G->A at 6: in dbSNP:rs3744448<li>A->V at 35<li>G->V at 248: in SPS: in dbSNP rsrs28938474, MIM: 147891<li>A->V at 314: in dbSNP:rs3744438, MIM: 147891<li>Q->R at 531: in SPS: in dbSNP rsrs28936696, MIM: 147891</ul>							<li>P49903</li><li>Q43845</li><li>P31927</li><li>Q43876</li><li>P49031</li>	Small patella syndrome (SPS) [MIM:147891]	<li>rs3744438</li><li>rs3744448</li><li>rs28938474</li><li>rs28936696</li>	2
P57087	58494	<ul><li>S->R at 286: in dbSNP:rs9976382</ul>									rs9976382	2
P57103	6547	<ul><li>E->Q at 612: in a breast cancer sample; somatic mutation</ul>										2
P57105	55333	<ul><li>V->I at 9: in dbSNP:rs4356408</ul>									rs4356408	2
P57678		<ul><li>A->G at 579: in dbSNP:rs910925<li>R->Q at 684: in dbSNP:rs3744741<li>R->C at 1033: in dbSNP:rs7813</ul>									<li>rs7813</li><li>rs910925</li><li>rs3744741</li>	2
P57679	2121	<ul><li>Q->P at 74: in dbSNP:rs2291157<li>A->V at 114: in dbSNP:rs16837598<li>Y->H at 258: in dbSNP:rs6414624<li>S->P at 307: in WAD, MIM: 193530<li>T->M at 372: in dbSNP:rs28483498, MIM: 193530<li>G->S at 403, MIM: 193530<li>R->Q at 443: in EVC; dbSNP:rs35953626, MIM: 225500<li>T->K at 449: in dbSNP:rs2302075, MIM: 225500<li>R->Q at 576: in dbSNP:rs1383180, MIM: 225500<li>R->Q at 760: in dbSNP:rs2279252, MIM: 225500<li>D->G at 953, MIM: 225500<li>Missing at 965, MIM: 225500</ul>							P57679	<li>Acrofacial dysostosis Weyers type (WAD) [MIM:193530]</li><li>Ellis-van Creveld syndrome (EVC) [MIM:225500]</li>	<li>rs1383180</li><li>rs35953626</li><li>rs16837598</li><li>rs2302075</li><li>rs28483498</li><li>rs2291157</li><li>rs6414624</li><li>rs2279252</li>	2
P57682	51274	<ul><li>R->S at 207: in dbSNP:rs17616226</ul>									rs17616226	2
P57723	57060	<ul><li>G->S at 198: in dbSNP:rs323872</ul>									rs323872	2
P57727	64699	<ul><li>V->I at 53: in dbSNP:rs928302<li>D->G at 103: in DFNB8/DFNB10<li>R->W at 109: in DFNB8/DFNB10<li>G->S at 111: in dbSNP:rs35227181<li>D->N at 173<li>C->F at 194: in DFNB8/DFNB10<li>R->L at 216: in DFNB8/DFNB10; fails to undergo proteolytic cleavage and is unable to activate ENaC<li>W->C at 251: in DFNB8/DFNB10<li>I->V at 253: in dbSNP:rs2839500<li>P->L at 404: in DFNB8/DFNB10: in dbSNP rsrs28939084<li>C->R at 407: in DFNB8/DFNB10<li>A->T at 426: in dbSNP rsrs56264519</ul>									<li>rs28939084</li><li>rs56264519</li><li>rs928302</li><li>rs35227181</li><li>rs2839500</li>	2
P57729	23682	<ul><li>K->T at 111: in a colorectal cancer sample; somatic mutation</ul>										2
P57768	64089	<ul><li>P->L at 98: in dbSNP:rs16919654</ul>									rs16919654	2
P57773	81025	<ul><li>V->I at 497: in dbSNP:rs880303</ul>									rs880303	2
P57789	54207	<ul><li>A->T at 512: in dbSNP:rs17762463</ul>									rs17762463	2
P57796	57010	<ul><li>R->C at 124: in CSNB2B, MIM: 610427</ul>								Congenital stationary night blindness type 2B (CSNB2B) [MIM:610427]		2
P58004	83667	<ul><li>T->A at 320: in dbSNP:rs2274848</ul>									rs2274848	2
P58005	143686	<ul><li>R->C at 71: in dbSNP:rs10160385<li>I->T at 227: in dbSNP:rs11021069</ul>									<li>rs11021069</li><li>rs10160385</li>	2
P58012	668	<ul><li>S->L at 58: in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>M->V at 65: in BPES, MIM: 110100<li>A->V at 66: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>E->K at 69: in BPES; sporadic; nuclear aggregation; normal transactivation activity, MIM: 110100<li>I->T at 80: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>I->N at 84: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>I->S at 84: in BPES; type I; dbSNP:rs28937884, MIM: 110100<li>Missing  at 85: in BPES; sporadic, MIM: 110100<li>F->S at 90: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>W->G at 98: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>S->R at 101: in BPES; nuclear aggregation; impaired transactivation activity, MIM: 110100<li>I->T at 102: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>R->C at 103: in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity, MIM: 110100<li>H->R at 104: in BPES; diffuse nuclear localization as wild type; normal transactivation activity, MIM: 110100<li>N->S at 105: in BPES; type II, MIM: 110100<li>L->F at 106: in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>L->P at 106: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100<li>N->K at 109: in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity, MIM: 110100<li>A->G at 179: in dbSNP:rs7432551, MIM: 110100<li>G->D at 187, MIM: 110100<li>K->R at 193: in BPES; type II, MIM: 110100<li>Y->C at 215: in BPES, MIM: 110100<li>S->F at 217: in BPES; diffuse nuclear localization as wild type; increased transactivation activity, MIM: 110100<li>A->AAAAAA at 234: in BPES; significant higher cytoplasmic retention compared to the wild-type protein, MIM: 110100<li>A->AAAAAAAAAAA at 234: in BPES; type II, MIM: 110100<li>A->AAAAAAAAAAAA at 234: in BPES, MIM: 110100<li>Y->N at 258: in POF3; dbSNP:rs28937885, MIM: 608996<li>P->S at 285, MIM: 608996</ul>	localization	GO:0051179						<li>Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]</li><li>Premature ovarian failure 3 (POF3) [MIM:608996]</li>	<li>rs7432551</li><li>rs28937885</li><li>rs28937884</li>	2
P58166	83729	<ul><li>R->T at 62: in a breast cancer sample; somatic mutation<li>Q->H at 215: in a breast cancer sample; somatic mutation</ul>										2
P58173	26212	<ul><li>V->I at 117: in dbSNP:rs7767176<li>Q->R at 270: in dbSNP:rs9380030</ul>									<li>rs7767176</li><li>rs9380030</li>	2
P58181	26496	<ul><li>F->V at 20: in dbSNP:rs16934214</ul>									rs16934214	2
P58215	84695	<ul><li>I->F at 615: in dbSNP:rs17010021</ul>									rs17010021	2
P58294	84432	<ul><li>V->I at 67: in dbSNP:rs7514102</ul>									rs7514102	2
P58304	338917	<ul><li>P->Q at 100: in dbSNP:rs35214083<li>R->P at 200: in MCOPCTI; loss of DNA binding capacity, MIM: 610092<li>R->Q at 200: in MCOPCTI; loss of DNA binding capacity, MIM: 610092<li>R->W at 227: in MCOP2, MIM: 610093</ul>			DNA binding	GO:0003677				<li>Microphthalmia isolated type 2 (MCOP2) [MIM:610093]</li><li>Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]</li>	rs35214083	2
P58335	118429	<ul><li>L->P at 45: in ISH, MIM: 236490<li>G->D at 105: in JHF, MIM: 228600<li>I->T at 189: in ISH, MIM: 236490<li>C->R at 218: in ISH, MIM: 236490<li>V->VQ at 293: in JHF, MIM: 236490<li>L->R at 329: in JHF, MIM: 228600<li>P->A at 357: in dbSNP:rs12647691, MIM: 228600<li>Y->C at 381: in JHF, MIM: 228600</ul>								<li>Juvenile hyaline fibromatosis (JHF) [MIM:228600]</li><li>Infantile systemic hyalinosis (ISH) [MIM:236490]</li>	rs12647691	2
P58340	4291	<ul><li>P->T at 226: in dbSNP:rs15967</ul>									rs15967	2
P58418	7401	<ul><li>K->I at 7: in dbSNP:rs3796241<li>C->G at 40: in USH3, MIM: 276902<li>N->K at 48: in USH3, MIM: 276902<li>S->P at 105: in USH3, MIM: 276902<li>M->K at 120: in USH3, MIM: 276902<li>L->P at 150: in USH3, MIM: 276902<li>IL->M at 153-154: in USH3, MIM: 276902</ul>								Usher syndrome type 3 (USH3) [MIM:276902]	rs3796241	2
P58499	54097	<ul><li>V->M at 14: in dbSNP:rs2838012</ul>									rs2838012	2
P58511	54065	<ul><li>K->R at 51: in dbSNP:rs34016792</ul>									rs34016792	2
P58753	114609	<ul><li>A->P at 9: in dbSNP:rs8177369<li>R->W at 13: in dbSNP:rs8177399<li>S->N at 55: in dbSNP:rs3802813<li>D->N at 96: in dbSNP:rs8177400<li>S->L at 180: conferres protection against invasive pneumococcal disease, malaria and tuberculosis; attenuates TLR2 signal transduction; dbSNP:rs8177374</ul>	transduction	GO:0009293					<li>Q95LA9</li><li>Q95M53</li><li>Q2V897</li><li>Q689D1</li><li>Q9R1F8</li><li>O60603</li>		<li>rs8177374</li><li>rs8177400</li><li>rs8177369</li><li>rs8177399</li><li>rs3802813</li>	2
P58872	162494	<ul><li>V->M at 255: in dbSNP:rs4795690</ul>									rs4795690	2
P59020		<ul><li>G->V at 23: in dbSNP:rs1888464<li>R->L at 76: in dbSNP:rs13864</ul>									<li>rs13864</li><li>rs1888464</li>	2
P59025	132112	<ul><li>R->S at 124: in a breast cancer sample; somatic mutation<li>A->G at 212: in dbSNP:rs35053281<li>Q->E at 229: in dbSNP:rs6764714</ul>									<li>rs35053281</li><li>rs6764714</li>	2
P59046	91662	<ul><li>G->V at 39: in dbSNP:rs34436714<li>F->L at 402: in dbSNP:rs34971363</ul>									<li>rs34436714</li><li>rs34971363</li>	2
P59092		<ul><li>C->Y at 49: in dbSNP:rs2831368</ul>									rs2831368	2
P59093		<ul><li>T->M at 42: in dbSNP:rs1054926<li>P->T at 46: in dbSNP:rs10439727</ul>									<li>rs10439727</li><li>rs1054926</li>	2
P59095	147323	<ul><li>E->K at 159: in dbSNP:rs2917782</ul>									rs2917782	2
P59103	267012	<ul><li>R->K at 30: in dbSNP:rs2391191<li>K->E at 62: in dbSNP:rs9558562</ul>									<li>rs2391191</li><li>rs9558562</li>	2
P59533	5726	<ul><li>A->P at 49: in dbSNP:rs713598<li>A->V at 262: in dbSNP:rs1726866<li>I->V at 296: in dbSNP:rs10246939</ul>									<li>rs713598</li><li>rs10246939</li><li>rs1726866</li>	2
P59534	259285	<ul><li>S->F at 193: in dbSNP:rs35474877<li>K->E at 197: in dbSNP:rs34169190</ul>									<li>rs34169190</li><li>rs35474877</li>	2
P59535	259286	<ul><li>V->L at 23: in dbSNP:rs17164164<li>S->Y at 187: in dbSNP:rs10260248</ul>									<li>rs10260248</li><li>rs17164164</li>	2
P59538		<ul><li>R->W at 35: in dbSNP:rs10845295<li>M->L at 162: in dbSNP:rs10743938<li>Q->E at 217: in dbSNP:rs10845294<li>A->V at 227: in dbSNP:rs10845293<li>V->I at 240: in dbSNP:rs10772423</ul>									<li>rs10743938</li><li>rs10845295</li><li>rs10772423</li><li>rs10845294</li><li>rs10845293</li>	2
P59542	259294	<ul><li>K->Q at 126: in dbSNP:rs12424373<li>R->C at 299: in dbSNP:rs10772420</ul>									<li>rs10772420</li><li>rs12424373</li>	2
P59543	259295	<ul><li>K->E at 79: in dbSNP:rs7135018<li>H->Q at 143: in dbSNP:rs12226920<li>H->N at 148: in dbSNP:rs12226919<li>I->V at 236: in dbSNP:rs10845281<li>F->S at 252: in dbSNP:rs10845280<li>R->L at 255: in dbSNP:rs10845279</ul>									<li>rs12226919</li><li>rs10845280</li><li>rs10845281</li><li>rs10845279</li><li>rs7135018</li><li>rs12226920</li>	2
P59544	259296	<ul><li>Y->C at 203: in dbSNP:rs1376251</ul>									rs1376251	2
P59796	257202	<ul><li>Q->L at 6: in dbSNP rsrs35510314<li>F->L at 13: in dbSNP:rs406113<li>Y->H at 53: in dbSNP:rs34825130<li>Q->H at 58: in dbSNP:rs6922986<li>Y->N at 72: in dbSNP:rs35062161<li>E->D at 136: in dbSNP:rs35394555<li>V->M at 140: in dbSNP rsrs36055795<li>P->S at 157: in dbSNP rsrs35658392<li>D->G at 161: in dbSNP rsrs34955392<li>V->A at 188: in dbSNP:rs35701070</ul>									<li>rs35701070</li><li>rs406113</li><li>rs34955392</li><li>rs35394555</li><li>rs36055795</li><li>rs6922986</li><li>rs34825130</li><li>rs35658392</li><li>rs35062161</li><li>rs35510314</li>	2
P59817		<ul><li>K->N at 71: in dbSNP:rs361959<li>N->S at 136: in dbSNP:rs362011<li>Y->S at 137: in dbSNP:rs361580<li>N->S at 246: in dbSNP:rs362132<li>G->A at 249: in dbSNP:rs362124<li>L->F at 276: in dbSNP:rs16989015<li>N->D at 278: in dbSNP:rs362003<li>L->F at 486: in dbSNP:rs361762<li>R->S at 488: in dbSNP:rs361666</ul>									<li>rs362124</li><li>rs361666</li><li>rs362132</li><li>rs361959</li><li>rs16989015</li><li>rs362003</li><li>rs361580</li><li>rs362011</li><li>rs361762</li>	2
P59826	359710	<ul><li>V->M at 228: in dbSNP:rs4911290<li>T->M at 290: in dbSNP:rs2093066<li>H->Q at 334: in dbSNP:rs6057717<li>Y->C at 369: in dbSNP:rs6059063<li>P->S at 449: in dbSNP:rs378098</ul>									<li>rs6057717</li><li>rs2093066</li><li>rs6059063</li><li>rs4911290</li><li>rs378098</li>	2
P59894	341019	<ul><li>E->G at 7: in dbSNP:rs11031357<li>V->M at 83: in dbSNP:rs2761591</ul>									<li>rs2761591</li><li>rs11031357</li>	2
P59923	353274	<ul><li>Y->C at 428: in dbSNP:rs11710965</ul>									rs11710965	2
P59942	401250	<ul><li>E->K at 42: in dbSNP:rs2259435<li>N->S at 45: in dbSNP:rs3093983<li>T->M at 53</ul>									<li>rs3093983</li><li>rs2259435</li>	2
P59991	353323	<ul><li>A->V at 116: in dbSNP:rs12483730<li>S->P at 143: in dbSNP:rs2838622</ul>									<li>rs12483730</li><li>rs2838622</li>	2
P60014	353333	<ul><li>V->D at 20: in dbSNP:rs2838602<li>T->P at 72: in dbSNP:rs4818947<li>V->M at 158: in dbSNP:rs4818950</ul>									<li>rs2838602</li><li>rs4818950</li><li>rs4818947</li>	2
P60022	1672	<ul><li>V->I at 38: in dbSNP:rs2738047<li>A->V at 48: in dbSNP:rs1800967<li>C->S at 67: in dbSNP:rs1800968</ul>									<li>rs2738047</li><li>rs1800967</li><li>rs1800968</li>	2
P60153	390443	<ul><li>F->S at 148: in dbSNP:rs12590446<li>S->P at 204: in dbSNP:rs1243647</ul>									<li>rs12590446</li><li>rs1243647</li>	2
P60174	7167	<ul><li>C->Y at 42: in TPI deficiency: in dbSNP rsrs28934570, MIM: 190450<li>G->A at 73: in TPI deficiency, MIM: 190450<li>E->D at 105: in TPI deficiency; the enzyme becomes thermolabile, MIM: 190450<li>G->R at 123: in Manchester; thermolabile, MIM: 190450<li>V->M at 155: in TPI deficiency, MIM: 190450<li>I->V at 171: in TPI deficiency, MIM: 190450<li>V->M at 232: in TPI deficiency, MIM: 190450<li>F->L at 241: in TPI deficiency; Hungary; thermolabile, MIM: 190450</ul>							<li>Q27775</li><li>Q589R5</li><li>O02611</li><li>P60174</li><li>Q7KQM0</li><li>P60175</li><li>Q12574</li><li>Q07412</li><li>P48501</li><li>P48494</li><li>Q9M4S8</li><li>P48497</li>	Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	rs28934570	2
P60201	5354	<ul><li>P->L at 15: in PMD, MIM: 312080<li>L->P at 31: in PMD, MIM: 312080<li>F->L at 32: in PMD, MIM: 312080<li>F->V at 32: in PMD, MIM: 312080<li>C->Y at 33: in PMD, MIM: 312080<li>C->R at 35: in PMD, MIM: 312080<li>C->Y at 35: in PMD, MIM: 312080<li>A->T at 39: in PMD, MIM: 312080<li>T->I at 43: in PMD, MIM: 312080<li>L->P at 46: in PMD/SPG2, MIM: 312080<li>L->R at 46: in PMD, MIM: 312080<li>Y->C at 50: in PMD, MIM: 312080<li>F->S at 51: in PMD, MIM: 312080<li>Y->C at 60: in PMD, MIM: 312080<li>G->R at 74: in PMD, MIM: 312080<li>A->P at 76: in PMD, MIM: 312080<li>T->K at 116: in PMD, MIM: 312080<li>Missing  at 117-165: in PMD, MIM: 312080<li>H->Y at 130: in SPG2, MIM: 312920<li>R->W at 137: in SPG2, MIM: 312920<li>H->Y at 140: in SPG2, MIM: 312920<li>H->Y at 148: in PMD/SPG2, MIM: 312920<li>K->N at 151: in PMD, MIM: 312080<li>T->I at 156: in PMD, MIM: 312080<li>V->E at 162: in PMD, MIM: 312080<li>W->R at 163: in PMD, MIM: 312080<li>V->E at 166: in PMD, MIM: 312080<li>V->G at 166: in PMD/SPG2, MIM: 312080<li>C->R at 169: in PMD, MIM: 312080<li>S->F at 170: in SPG2, MIM: 312920<li>S->P at 170: in PMD, MIM: 312080<li>V->A at 172: in PMD, MIM: 312080<li>P->S at 173: in PMD, MIM: 312080<li>Y->C at 175: in PMD, MIM: 312080<li>W->C at 181: in PMD, MIM: 312080<li>T->P at 182: in PMD, MIM: 312080<li>T->N at 183: in PMD, MIM: 312080<li>I->T at 187: in SPG2, MIM: 312920<li>D->E at 203: in PMD, MIM: 312080<li>D->G at 203: in PMD, MIM: 312080<li>D->H at 203: in PMD, MIM: 312080<li>D->N at 203: in PMD, MIM: 312080<li>D->V at 203: in PMD, MIM: 312080<li>R->G at 205: in PMD, MIM: 312080<li>Y->C at 207: in PMD, MIM: 312080<li>V->D at 209: in PMD, MIM: 312080<li>L->H at 210: in PMD, MIM: 312080<li>P->L at 211: in PMD, MIM: 312080<li>W->R at 212: in PMD, MIM: 312080<li>P->A at 216: in PMD, MIM: 312080<li>P->L at 216: in SPG2, MIM: 312920<li>P->S at 216: in PMD, MIM: 312080<li>G->S at 217: in PMD, MIM: 312080<li>V->F at 219: in PMD, MIM: 312080<li>C->Y at 220: in PMD, MIM: 312080<li>G->C at 221: in PMD, MIM: 312080<li>L->I at 224: in PMD/SPG2, MIM: 312080<li>L->P at 224: in PMD, MIM: 312080<li>L->P at 225: in PMD, MIM: 312080<li>S->P at 226: in SPG2, MIM: 312920<li>C->Y at 228: in PMD, MIM: 312080<li>Q->P at 234: in PMD, MIM: 312080<li>F->S at 237: in SPG2, MIM: 312920<li>L->P at 239: in PMD, MIM: 312080<li>A->P at 242: in PMD, MIM: 312080<li>A->E at 243: in PMD, MIM: 312080<li>A->V at 243: in PMD, MIM: 312080<li>G->A at 246: in PMD, MIM: 312080<li>G->E at 246: in PMD, MIM: 312080<li>A->T at 247: in PMD, MIM: 312080<li>A->E at 248: in PMD, MIM: 312080<li>A->P at 249: in PMD, MIM: 312080<li>S->F at 253: in PMD, MIM: 312080</ul>							P15520	<li>Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]</li><li>Pelizaeus-Merzbacher disease (PMD) [MIM:312080]</li>		2
P60228	3646	<ul><li>A->V at 185: in dbSNP:rs17856554</ul>									rs17856554	2
P60328	386683	<ul><li>R->H at 17: in dbSNP rsrs9306111</ul>									rs9306111	2
P60331	386677	<ul><li>P->L at 39: in dbSNP:rs233320<li>V->M at 101: in dbSNP:rs233319<li>R->Q at 241: in dbSNP:rs233317<li>P->L at 280: in dbSNP:rs233316</ul>									<li>rs233317</li><li>rs233319</li><li>rs233316</li><li>rs233320</li>	2
P60368	386679	<ul><li>N->D at 15: in dbSNP rsrs233240<li>P->T at 107: in dbSNP rsrs478967<li>A->P at 117: in dbSNP:rs233239<li>P->L at 177: in dbSNP:rs2329834<li>R->G at 241</ul>									<li>rs2329834</li><li>rs478967</li><li>rs233239</li><li>rs233240</li>	2
P60369	386682	<ul><li>T->A at 3: in dbSNP:rs452472<li>C->Y at 170: in dbSNP:rs233252</ul>									<li>rs452472</li><li>rs233252</li>	2
P60370	386680	<ul><li>D->N at 20: in dbSNP:rs2020221<li>F->C at 183: in dbSNP:rs380585<li>V->L at 235: in dbSNP:rs464424<li>Y->C at 247: in dbSNP:rs7509970<li>R->P at 268: in dbSNP:rs464391</ul>									<li>rs464391</li><li>rs2020221</li><li>rs7509970</li><li>rs464424</li><li>rs380585</li>	2
P60371	386674	<ul><li>C->CPSCCA at 81</ul>										2
P60372	386672	<ul><li>R->C at 62: in dbSNP rsrs233285<li>I->V at 159</ul>									rs233285	2
P60409	386675	<ul><li>M->V at 116: in dbSNP:rs944419<li>Q->K at 220: in dbSNP:rs363877<li>S->T at 290: in dbSNP:rs446817<li>T->A at 325: in dbSNP:rs369720</ul>									<li>rs363877</li><li>rs369720</li><li>rs446817</li><li>rs944419</li>	2
P60410	386681	<ul><li>H->R at 26: in dbSNP:rs411254<li>S->N at 64: in a colorectal cancer sample; somatic mutation<li>S->F at 159: in a breast cancer sample; somatic mutation</ul>									rs411254	2
P60411	386676	<ul><li>C->Y at 182: in dbSNP rsrs8127342</ul>									rs8127342	2
P60412	386678	<ul><li>Y->S at 213</ul>										2
P60413	386685	<ul><li>P->Q at 146: in dbSNP:rs35076450<li>G->S at 226: in dbSNP:rs34302939</ul>									<li>rs34302939</li><li>rs35076450</li>	2
P60484	5728	<ul><li>S->N at 10: retains phosphatase activity towards Ins<li>R->S at 15: in glioma<li>Y->C at 16: loss of phosphatase activity towards Ins<li>D->N at 19: in malignant melanoma; somatic mutation<li>G->E at 20: reduced phosphatase activity towards Ins<li>Y->S at 27: loss of phosphatase activity towards Ins<li>Missing  at 33: in CD<li>A->D at 34: in BZS, MIM: 153480<li>M->R at 35: in CD, MIM: 158350<li>G->E at 36: in glioma, MIM: 158350<li>G->R at 36: in endometrial hyperplasia, MIM: 158350<li>L->R at 42: in glioma; retains phosphatase activity towards Ins, MIM: 158350<li>R->G at 47: in CD, MIM: 158350<li>L->W at 57: in glioma; loss of protein phosphatase activity, MIM: 158350<li>H->D at 61: in VATER, MIM: 158350<li>H->R at 61: loss of phosphatase activity towards Ins, MIM: 158350<li>I->R at 67: in CD, MIM: 158350<li>Y->H at 68: in CD and BZS; loss of phosphatase activity towards Ins, MIM: 158350<li>L->P at 70: in CD, MIM: 158350<li>C->Y at 71: in CD; loss of phosphatase activity towards Ins, MIM: 158350<li>H->R at 93: in macrocephaly/autism syndrome, MIM: 605309<li>H->Y at 93: in CD, MIM: 158350<li>C->F at 105: in BZS; loss of phosphatase activity towards Ins, MIM: 153480<li>C->Y at 105: in BZS, MIM: 153480<li>D->Y at 107: in BZS and glioblastoma; loss of phosphatase activity towards Ins, MIM: 153480<li>L->P at 112: in CD and LDD; loss of phosphatase activity towards Ins, MIM: 158350<li>L->R at 112: loss of phosphatase activity towards Ins, MIM: 158350<li>V->L at 119: in multiple cancers, MIM: 158350<li>A->G at 121: in HNSCC, MIM: 275355<li>A->P at 121: in glioblastoma; loss of phosphatase activity towards Ins, MIM: 275355<li>H->R at 123: in CD, MIM: 158350<li>H->Y at 123: in endometrial cancer; loss of protein phosphatase activity, MIM: 608089<li>C->R at 124: in CD, MIM: 158350<li>C->S at 124: in CD; phosphatase-dead protein with neither lipid nor protein phosphatase activity, MIM: 158350<li>G->E at 129: in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation, MIM: 158350<li>G->R at 129: in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins, MIM: 158350<li>R->G at 130: loss of phosphatase activity towards Ins, MIM: 158350<li>R->L at 130: in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins, MIM: 158350<li>R->Q at 130: in CD; loss of phosphatase activity towards Ins, MIM: 158350<li>G->V at 132: in one patient with clinical findings suggesting hamartoma tumor syndrome, MIM: 158350<li>V->I at 133: loss of phosphatase activity towards Ins, MIM: 158350<li>M->L at 134: in prostate cancer; no effect on protein phosphatase activity; reduced phosphatase activity towards Ins, MIM: 176807<li>I->V at 135: in BZS, MIM: 153480<li>C->Y at 136: in CD; loss of phosphatase activity towards Ins, MIM: 158350<li>A->AN at 137: in CD, MIM: 158350<li>Y->C at 155: in CD; loss of phosphatase activity towards Ins, MIM: 158350<li>V->L at 158: in multiple cancers, MIM: 158350<li>G->E at 165: in CD, MIM: 158350<li>G->R at 165: in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins, MIM: 158350<li>G->V at 165: in CD, MIM: 158350<li>T->P at 167: in breast cancer; severely reduced protein phosphatase activity, MIM: 158350<li>S->N at 170: loss of phosphatase activity towards Ins, MIM: 158350<li>S->R at 170: in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins, MIM: 153480<li>R->C at 173: in endometrial hyperplasia; loss of phosphatase activity towards Ins, MIM: 153480<li>R->H at 173: loss of phosphatase activity towards Ins, MIM: 153480<li>R->P at 173: loss of phosphatase activity towards Ins, MIM: 153480<li>Y->N at 174: loss of phosphatase activity towards Ins, MIM: 153480<li>V->A at 191: in endometrial hyperplasia, MIM: 153480<li>V->I at 217: in malignant melanoma; somatic mutation, MIM: 153480<li>S->F at 227: reduced phosphatase activity towards Ins, MIM: 153480<li>R->Q at 234: in oligodendroglioma; not capable of inducing apoptosis; induced increased cell proliferation; led to high constitutive AKT1 activation which could not be increased further by stimulation with insulin, MIM: 137800<li>F->S at 241: in macrocephaly/autism syndrome, MIM: 605309<li>P->L at 246: in CD and BZS, MIM: 158350<li>G->C at 251: loss of phosphatase activity towards Ins, MIM: 158350<li>D->G at 252: in macrocephaly/autism syndrome, MIM: 605309<li>K->E at 289: in CD; reduced phosphatase activity towards Ins, MIM: 158350<li>V->L at 290: in dbSNP:rs35600253, MIM: 158350<li>Missing  at 319: in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB, MIM: 158350<li>D->G at 331: in CD; reduced phosphatase activity towards Ins, MIM: 158350<li>F->V at 341: in CD; loss of phosphatase activity towards Ins, MIM: 158350<li>K->N at 342: in CD; reduced phosphatase activity towards Ins, MIM: 158350<li>V->E at 343: in CD; loss of phosphatase activity towards Ins, MIM: 158350<li>L->Q at 345: in glioblastoma; reduced tumor suppressor activity; loss of phosphatase activity towards Ins, MIM: 158350<li>F->L at 347: in CD; reduced phosphatase activity towards Ins, MIM: 158350<li>T->I at 348: in endometrial hyperplasia; reduced phosphatase activity towards PtdIns, MIM: 158350<li>V->G at 369: retains Ins, MIM: 158350<li>T->I at 401: retains Ins, MIM: 158350</ul>	<li>cell proliferation</li><li>focal adhesion formation</li><li>apoptosis</li>	<li>GO:0008283</li><li>GO:0048041</li><li>GO:0006915</li>					<li>Q5X1E5</li><li>Q7MBF4</li><li>Q88A53</li><li>Q5PC82</li><li>Q8INB9</li><li>Q821A6</li><li>P0C236</li><li>Q38998</li><li>P07453</li><li>Q87SK9</li><li>P42633</li><li>Q9JZ88</li><li>Q5F8K9</li><li>Q9I5V3</li><li>P68243</li><li>Q63YC3</li><li>P68992</li><li>Q8Y395</li><li>Q6LV05</li><li>P81423</li><li>Q9PDL7</li><li>Q5WT58</li><li>Q57JQ5</li><li>Q8P5D4</li><li>P06961</li><li>P68245</li><li>P45269</li><li>Q88QU2</li><li>P69046</li><li>P01316</li><li>Q60CQ4</li><li>Q8ZI64</li><li>P01314</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P18109</li><li>P12704</li><li>Q5E2K7</li><li>P12708</li><li>Q8CXX6</li><li>P67974</li><li>P67973</li><li>Q7M7K5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q5P3T0</li><li>P67971</li><li>Q8Z3M9</li><li>Q5ZRX9</li><li>P69048</li><li>P01330</li><li>P69047</li><li>P01324</li><li>Q9CP21</li><li>Q82U82</li><li>P01320</li><li>P31750</li><li>Q6FA38</li><li>Q8ZLY4</li><li>P47196</li><li>P01328</li><li>Q01314</li><li>Q62EU1</li><li>Q8VYX2</li><li>Q9JUB2</li><li>Q9TQY7</li><li>Q665U9</li><li>Q9KPC6</li><li>Q8CWL6</li><li>P01340</li><li>P68990</li><li>P67969</li><li>Q8PPG9</li><li>P68991</li><li>P67968</li><li>Q9L7A3</li><li>P81881</li><li>P01336</li><li>P68988</li><li>Q6D160</li><li>P68987</li><li>P13190</li><li>P01334</li><li>P01331</li><li>Q87DS9</li><li>P09477</li><li>P09476</li><li>Q65Q41</li><li>P68989</li><li>P31749</li>	<li>Prostate cancer [MIM:176807]</li><li>Oligodendroglioma [MIM:137800]</li><li>Macrocephaly/autism syndrome [MIM:605309]</li><li>Bannayan-Zonana syndrome (BZS) [MIM:153480]</li><li>Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]</li><li>Cowden disease (CD) [MIM:158350]</li><li>Endometrial cancer [MIM:608089]</li><li>Lhermitte-Duclos disease (LDD) [MIM:158350]</li>	rs35600253	2
P60520	11345	<ul><li>V->A at 51: in dbSNP:rs11556291</ul>									rs11556291	2
P60568	3558	<ul><li>Missing  at 21: in FT-IL2-A and FT-IL2-B<li>Missing  at 22: in FT-IL2-B</ul>							<li>Q9XT83</li><li>P26891</li><li>P05016</li><li>Q25BC3</li><li>P68290</li><li>O62641</li><li>P68291</li><li>Q9XS38</li><li>P36835</li><li>Q29615</li><li>Q2PE78</li><li>Q865X2</li><li>Q865Y1</li><li>Q7JFM4</li><li>Q7JFM3</li><li>Q07885</li><li>Q7JFM5</li><li>Q4U313</li><li>O77620</li><li>Q08081</li><li>Q7JFM2</li><li>Q9XT84</li><li>O97513</li><li>P37997</li><li>Q29416</li><li>Q95KP3</li><li>P60568</li><li>P60569</li><li>Q5MBA8</li><li>Q5PXD0</li><li>P46649</li><li>Q1WM29</li><li>Q2PE47</li><li>P19114</li><li>Q8MKH2</li><li>P51747</li>			2
P60602	140823	<ul><li>A->P at 28: in dbSNP:rs1044521</ul>									rs1044521	2
P60660	4637	<ul><li>T->I at 85: in dbSNP:rs11553509<li>T->P at 103: in dbSNP:rs1050470</ul>									<li>rs1050470</li><li>rs11553509</li>	2
P60709	60	<ul><li>R->W at 183: in DYTJ; modifies cell response to latrunculin A, MIM: 607371<li>P->L at 243: in dbSNP:rs11546899, MIM: 607371</ul>								Juvenile-onset dystonia [MIM:607371]	rs11546899	2
P60852	22917	<ul><li>T->I at 158: in dbSNP:rs489172</ul>									rs489172	2
P60891	5631	<ul><li>E->D at 43: in CMTX5, MIM: 311070<li>D->H at 52: in PRPS1 superactivity, MIM: 300661<li>N->S at 114: in PRPS1 superactivity, MIM: 300661<li>M->T at 115: in CMTX5, MIM: 311070<li>L->I at 129: in PRPS1 superactivity, MIM: 300661<li>Q->P at 133: in ARTS, MIM: 301835<li>L->P at 152: in ARTS, MIM: 301835<li>D->H at 183: in PRPS1 superactivity, MIM: 300661<li>A->V at 190: in PRPS1 superactivity, MIM: 300661<li>H->Q at 193: in PRPS1 superactivity, MIM: 300661<li>D->H at 203: in a breast cancer sample; somatic mutation, MIM: 300661<li>V->G at 219: in a breast cancer sample; somatic mutation, MIM: 300661<li>H->D at 231: in a colorectal cancer sample; somatic mutation, MIM: 300661</ul>							<li>P60891</li><li>Q2HJ58</li><li>P32895</li>	<li>Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070]</li><li>ARTS syndrome (ARTS) [MIM:301835]</li><li>Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]</li>		2
P60896	7979	<ul><li>D->G at 17: in dbSNP:rs1802882</ul>									rs1802882	2
P60900	5687	<ul><li>A->S at 233: in dbSNP:rs15434</ul>									rs15434	2
P60981	11034	<ul><li>G->E at 139: in a colorectal cancer sample; somatic mutation</ul>										2
P61106	51552	<ul><li>A->T at 4</ul>										2
P61218	5435	<ul><li>Y->N at 60: in a breast cancer sample; somatic mutation</ul>										2
P61278	6750	<ul><li>A->V at 11: in dbSNP:rs35603672<li>N->T at 61: in dbSNP:rs33934967</ul>									<li>rs35603672</li><li>rs33934967</li>	2
P61457	5092	<ul><li>T->I at 79: in hyperphenylalaninemia, MIM: 264070<li>C->R at 82: in hyperphenylalaninemia; mild form, MIM: 264070<li>R->Q at 88: in hyperphenylalaninemia, MIM: 264070<li>E->K at 97: in hyperphenylalaninemia; mild form, MIM: 264070</ul>								Hyperphenylalaninemia with primapterinuria (hyperphenylalaninemia) [MIM:264070]		2
P61626	4069	<ul><li>I->T at 74: in AMYL8, MIM: 105200<li>D->H at 85: in AMYL8, MIM: 105200<li>T->N at 88: in dbSNP:rs1800973, MIM: 105200</ul>								Amyloidosis type 8 (AMYL8) [MIM:105200]	rs1800973	2
P61758	7411	<ul><li>M->V at 123: in dbSNP:rs572013</ul>									rs572013	2
P61764	6812	<ul><li>V->D at 84: in EIEE4; may alter protein structure, MIM: 612164<li>C->Y at 180: in EIEE4; reduced thermostability; decreased binding to STX1A, MIM: 612164<li>M->R at 443: in EIEE4; may alter protein structure, MIM: 612164<li>G->D at 544: in EIEE4; may alter protein structure, MIM: 612164</ul>			binding	GO:0005488			<li>Q16623</li><li>Q5R4L2</li><li>P32850</li>	Early infantile epileptic encephalopathy type 4 (EIEE4) [MIM:612164]		2
P61769	567	<ul><li>A->P at 11: in hypercatabolic hypoproteinemia; lower levels of beta-2-microglobulin, MHC class I and FcRn proteins, MIM: 241600</ul>							<li>P01885</li><li>P01886</li><li>P13599</li><li>P55899</li><li>P21612</li><li>P55078</li><li>P19341</li><li>P55077</li><li>Q8SPV9</li><li>Q04714</li><li>P30442</li><li>Q03423</li>	Hypercatabolic hypoproteinemia [MIM:241600]		2
P61803	1603	<ul><li>A->T at 83: in dbSNP:rs5742796</ul>									rs5742796	2
P61812	7042	<ul><li>R->H at 91: in dbSNP:rs10482721<li>V->L at 207: in dbSNP:rs10482810</ul>									<li>rs10482721</li><li>rs10482810</li>	2
P61916	10577	<ul><li>V->M at 30: in NPC2, MIM: 607625<li>V->M at 39: in NPC2; results in the synthesis of functional recombinant proteins correctly targeted to lysosomes, MIM: 607625<li>C->F at 47: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells, MIM: 607625<li>S->P at 67: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells; dbSNP:rs11694, MIM: 607625<li>P->L at 86: in dbSNP:rs4688, MIM: 607625<li>C->F at 93: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells, MIM: 607625<li>C->R at 99: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells, MIM: 607625<li>P->S at 120: in NPC2, MIM: 607625</ul>					<li>endoplasmic reticulum</li><li>lysosomes</li>	<li>GO:0005783</li><li>GO:0005764</li>	<li>Q6CHU5</li><li>Q52FS9</li><li>Q6CNE0</li><li>P79345</li><li>P61918</li><li>Q756Q3</li><li>P61917</li><li>Q12408</li><li>Q5A8A2</li><li>Q9VQ62</li><li>O93388</li><li>P61916</li><li>Q4P580</li><li>Q6BV42</li><li>Q6FNB1</li><li>Q28895</li><li>O97763</li><li>Q5KIR9</li>	Niemann-Pick disease type C2 (NPC2) [MIM:607625]	<li>rs4688</li><li>rs11694</li>	2
P61927	6167	<ul><li>G->E at 81: in dbSNP:rs14898</ul>									rs14898	2
P61956	6613	<ul><li>D->N at 16: in dbSNP:rs17850328</ul>									rs17850328	2
P62068	64854	<ul><li>A->V at 81: in dbSNP:rs17475800</ul>									rs17475800	2
P62070	22800	<ul><li>Q->L at 72: in an ovarian tumor</ul>										2
P62158	801	<ul><li>M->T at 73: in dbSNP:rs41389749</ul>									rs41389749	2
P62195	5705	<ul><li>R->Q at 60: in a colorectal cancer sample; somatic mutation<li>R->W at 258: in dbSNP:rs11543211</ul>									rs11543211	2
P62241	6202	<ul><li>R->G at 110: in dbSNP:rs11537870</ul>									rs11537870	2
P62324	694	<ul><li>N->S at 139: in dbSNP:rs28399541<li>Q->E at 141: in dbSNP rsrs28399542</ul>									<li>rs28399541</li><li>rs28399542</li>	2
P62424	6130	<ul><li>A->V at 24: in dbSNP:rs12295</ul>									rs12295	2
P62508	2104	<ul><li>T->M at 50: in dbSNP:rs11572693</ul>									rs11572693	2
P62736	59	<ul><li>N->T at 117: in AAT6, MIM: 611788<li>R->Q at 118: in AAT6, MIM: 611788<li>Y->H at 135: in AAT6, MIM: 611788<li>R->C at 149: in AAT6, MIM: 611788<li>V->A at 154: in AAT6, MIM: 611788<li>T->S at 196: in dbSNP:rs1803028, MIM: 611788<li>R->C at 258: in AAT6, MIM: 611788<li>R->H at 258: in AAT6, MIM: 611788<li>R->G at 292: in AAT6, MIM: 611788<li>T->A at 320: in dbSNP:rs1803027, MIM: 611788<li>T->N at 353: in AAT6, MIM: 611788<li>H->P at 373: in dbSNP:rs1062398, MIM: 611788</ul>								Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	<li>rs1062398</li><li>rs1803028</li><li>rs1803027</li>	2
P62753	6194	<ul><li>K->R at 221: in dbSNP:rs17852447</ul>									rs17852447	2
P62760	7447	<ul><li>A->G at 65: in dbSNP:rs1042674<li>K->R at 172: in dbSNP:rs1042685</ul>									<li>rs1042674</li><li>rs1042685</li>	2
P62805	121504	<ul><li>E->Q at 64: in a breast cancer sample; somatic mutation</ul>										2
P62826	5901	<ul><li>R->I at 95: in dbSNP:rs11546488</ul>									rs11546488	2
P62861		<ul><li>V->M at 19</ul>										2
P62906	4736	<ul><li>T->P at 154: in dbSNP:rs17838763</ul>									rs17838763	2
P62917	6132	<ul><li>I->V at 98: in dbSNP:rs17850886</ul>									rs17850886	2
P63000	5879	<ul><li>N->D at 26: in dbSNP:rs5830<li>F->L at 28: in dbSNP:rs5832<li>A->T at 59: in dbSNP:rs5837<li>D->G at 63: in dbSNP:rs5831<li>V->G at 93: in dbSNP:rs5826<li>V->I at 93: in dbSNP:rs5825<li>T->I at 108: in dbSNP:rs5838<li>K->R at 130: in dbSNP:rs5828<li>K->E at 133: in dbSNP:rs5835<li>T->I at 135: in dbSNP:rs11540455<li>P->S at 180: in dbSNP:rs16063<li>V->E at 182: in dbSNP:rs5836</ul>									<li>rs5835</li><li>rs5836</li><li>rs5831</li><li>rs5828</li><li>rs5832</li><li>rs11540455</li><li>rs5826</li><li>rs5830</li><li>rs5825</li><li>rs16063</li><li>rs5837</li><li>rs5838</li>	2
P63092	2778	<ul><li>L->P at 99: in AHO, MIM: 103580<li>I->S at 106: in AHO/PHP1A, MIM: 103580<li>P->L at 115: in AHO, MIM: 103580<li>D->N at 156: in PHP1A, MIM: 103580<li>V->M at 159: in PHP1A, MIM: 103580<li>R->C at 165: in AHO, MIM: 103580<li>R->C at 201: in MAS and somatotrophinoma; dbSNP:rs11554273, MIM: 174800<li>R->G at 201: in MAS, MIM: 174800<li>R->H at 201: in MAS, somatotrophinoma and AIMAH, MIM: 174800<li>R->L at 201: in non-MAS endocrine tumors, MIM: 174800<li>R->S at 201: in AIMAH, pituitary tumor and polyostotic fibrous dysplasia, MIM: 219080<li>Q->H at 227: in pituitary adenoma; ACTH-secreting adenoma; in a patient with severe Cushing syndrome complicated by psychosis, MIM: 219080<li>Q->R at 227: in somatotrophinoma, MIM: 102200<li>R->H at 231: in AHO; impairs the ability to mediate hormonal stimulation, MIM: 103580<li>T->I at 242: in AHO, MIM: 103580<li>F->S at 246: in AHO, MIM: 103580<li>S->R at 250: in AHO; may alter guanine nucleotide binding which could lead to thermolability and impaired function, MIM: 103580<li>R->W at 258: in AHO; defective GDP binding resulting in increased thermolability and decreased activation, MIM: 103580<li>E->V at 259: in AHO, MIM: 103580<li>R->G at 280: in PHP1A, MIM: 103580<li>R->K at 280: in PHP1A, MIM: 103580<li>W->R at 281: in POH, MIM: 166350<li>K->N at 338: in PHP1A, MIM: 103580<li>A->S at 366: in AHO; paradoxical combination of AHO and testotoxicosis; constitutively activates adenylyl cyclase in vitro; accounts for the testotoxicosis phenotype; mutant form is quite stable at testis temperature; rapidly degraded at 37 degrees explaining the AHO phenotype caused by loss of Gs activity, MIM: 103580<li>R->L at 380: in dbSNP:rs8986, MIM: 103580<li>Missing  at 382: unable to interact with the receptor for PTH, MIM: 103580<li>R->H at 385: in AHO; uncouples receptors from adenylyl cyclases, MIM: 103580</ul>			<li>nucleotide binding</li><li>GDP binding</li>	<li>GO:0000166</li><li>GO:0019003</li>			<li>P47329</li><li>Q9KGJ3</li><li>Q87A24</li><li>Q92N67</li><li>Q724K0</li><li>Q6GBY6</li><li>Q72IA8</li><li>P56077</li><li>P43524</li><li>Q5F9L4</li><li>P01201</li><li>Q63HI2</li><li>Q8E2I1</li><li>Q5FFA3</li><li>Q9KQ21</li><li>Q5ZS66</li><li>Q66AY1</li><li>P59490</li><li>Q89YZ2</li><li>Q25263</li><li>Q6YP15</li><li>Q82HE5</li><li>Q5WAD6</li><li>Q6AAC7</li><li>Q6ADQ8</li><li>Q980V1</li><li>P65867</li><li>P65868</li><li>Q9GL67</li><li>P65865</li><li>P44682</li><li>P65866</li><li>P65869</li><li>Q83HD8</li><li>Q7NQT1</li><li>Q92F62</li><li>P65863</li><li>P57820</li><li>P22923</li><li>P65864</li><li>Q8YYK4</li><li>Q8K9V3</li><li>Q5N2J4</li><li>Q9HLW6</li><li>Q64X30</li><li>Q26896</li><li>Q8DFF4</li><li>Q5PCR7</li><li>Q9AAV9</li><li>Q8E7Y8</li><li>Q73FF7</li><li>Q7N5A1</li><li>Q04618</li><li>Q63XM0</li><li>Q6GJG9</li><li>Q8CXP8</li><li>Q04617</li><li>Q8Q0M4</li><li>Q7NN75</li><li>Q6G0F9</li><li>Q8EHN5</li><li>Q81J96</li><li>Q8DJ45</li><li>Q6NI78</li><li>P78034</li><li>Q98PE2</li><li>Q27675</li><li>Q5L3U7</li><li>P00936</li><li>P23466</li><li>P68000</li><li>Q6LNA9</li><li>P68001</li><li>O28185</li><li>Q8UD97</li><li>Q9YGK2</li><li>Q9YGK4</li><li>Q92H41</li><li>Q7WNY2</li><li>O83975</li><li>Q7VUH3</li><li>Q5NGZ6</li><li>Q8R757</li><li>Q86Y79</li><li>Q7VDT7</li><li>P0A282</li><li>P0A281</li><li>P14605</li><li>Q59119</li><li>Q5P9A6</li><li>Q74FE6</li><li>Q5M222</li><li>Q9YBD6</li><li>Q65ZY7</li><li>P15318</li><li>Q5HRQ3</li><li>O84806</li><li>Q6MJR3</li><li>Q26721</li><li>Q9YGK5</li><li>Q6MS28</li><li>Q6YR64</li><li>Q7MMZ2</li><li>Q8XHJ8</li><li>Q8CQU9</li><li>Q8U0N0</li><li>Q9F8Q3</li><li>Q88Z39</li><li>P0A1A7</li><li>Q7U9I5</li><li>P0A1A8</li><li>P37470</li><li>Q9XT35</li><li>Q5V1D3</li><li>Q6G2L1</li><li>Q5P722</li><li>Q5X1N7</li><li>Q8RIJ5</li><li>Q97CB4</li><li>P08678</li><li>O85235</li><li>P40127</li><li>Q7MXK9</li><li>Q5GTI9</li><li>Q9X1W1</li><li>Q5XEM3</li><li>Q9ZJC3</li><li>Q5HIH3</li><li>Q8P327</li><li>Q67JD0</li><li>P06298</li><li>Q6D557</li><li>P06297</li><li>Q81VY9</li><li>P06299</li><li>Q8RLD7</li><li>Q60363</li><li>Q7V4V4</li><li>Q888C8</li><li>Q8DWN5</li><li>Q65PG8</li><li>Q8PNT8</li><li>Q82TQ6</li><li>P10000</li><li>Q9CD49</li><li>Q8ZEY4</li><li>Q8KD05</li><li>Q73II8</li><li>Q7UKV0</li><li>Q5NL75</li><li>Q27IM2</li><li>Q741V9</li><li>Q62FC1</li><li>P38876</li><li>Q6F240</li><li>Q91082</li><li>Q72BR1</li><li>P15743</li><li>Q8PC61</li><li>P04089</li><li>Q9PA78</li><li>Q9V108</li><li>P47714</li><li>Q5HWF9</li><li>P49606</li><li>Q8DRQ2</li><li>P11280</li><li>Q01631</li><li>Q5FMA9</li><li>Q9PII7</li><li>Q5JDB8</li><li>Q7W179</li><li>Q899I4</li><li>P49607</li><li>Q6HPW6</li><li>Q8G5I6</li><li>Q65V47</li><li>Q9AEQ5</li><li>Q8ZYM4</li><li>Q05766</li><li>P01189</li><li>P01197</li><li>Q8K8Z7</li><li>Q57506</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>O27732</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>Q5YPZ6</li><li>Q89DJ9</li><li>Q88PX8</li><li>Q8TV04</li><li>P01269</li><li>P59739</li><li>Q5LV91</li><li>P01268</li><li>Q9RRW3</li><li>Q976I0</li><li>Q9PR67</li><li>P01270</li><li>Q60A14</li><li>Q97TD1</li><li>P61234</li><li>P61235</li><li>P21252</li><li>Q8Y2E3</li><li>Q59685</li><li>Q5SHZ2</li><li>Q83AP0</li><li>Q9HVC3</li><li>Q57NM8</li><li>Q87RN9</li><li>Q68WD4</li><li>Q9K029</li><li>Q6AJL9</li><li>Q8D2K4</li><li>Q8F3Q2</li><li>Q8FQV6</li><li>Q9ZCV4</li><li>Q8BW00</li><li>Q72RZ0</li><li>P26338</li><li>Q83LE1</li><li>P27580</li><li>P61414</li><li>P57287</li><li>Q877G5</li><li>Q5FRT7</li><li>Q9Z6V6</li><li>Q839C0</li><li>Q5WTE7</li><li>Q59989</li><li>Q7V342</li><li>P0A7D1</li><li>P0A7D2</li><li>Q9CJI1</li><li>P0A7D3</li><li>Q6N1P9</li><li>O74806</li><li>P11885</li><li>Q83FR1</li><li>P30528</li><li>Q7VG29</li><li>Q9J5H2</li><li>Q6F8I7</li><li>Q9WXC3</li><li>O66677</li><li>Q99279</li><li>Q6KHA3</li><li>Q7M7U8</li><li>Q74LA8</li><li>Q98HV6</li><li>P40134</li><li>Q5HC85</li><li>Q99280</li><li>P40135</li><li>Q5M6L4</li><li>P40130</li><li>Q8EWQ8</li><li>P52212</li><li>Q7VMI1</li><li>P40136</li><li>Q8YAD1</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>Q9JV42</li><li>O74017</li><li>Q601M5</li><li>Q9K3T8</li><li>Q97E97</li><li>Q73Q01</li><li>Q5QV03</li><li>Q9A206</li><li>Q99396</li><li>Q5GWR6</li><li>Q8TKX4</li><li>Q821W6</li>	<li>A subset of growth hormone secreting pituitary tumors (somatotrophinoma) [MIM:102200]</li><li>McCune-Albright syndrome (MAS) [MIM:174800]</li><li>Albright hereditary osteodystrophy (AHO) [MIM:103580]</li><li>Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]</li><li>Progressive osseous heteroplasia (POH) [MIM:166350]</li><li>ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]</li>	<li>rs11554273</li><li>rs8986</li>	2
P63208	6500	<ul><li>F->L at 14: in dbSNP:rs11538034</ul>									rs11538034	2
P63211	2792	<ul><li>E->K at 50: in dbSNP:rs17243826</ul>									rs17243826	2
P63252	3759	<ul><li>R->W at 67: in LQT7, MIM: 170390<li>D->V at 71: in LQT7; loss of function and dominant-negative effect in current, MIM: 170390<li>Missing  at 95-98: in LQT7, MIM: 170390<li>D->N at 172: in SQT3; gain of function, MIM: 609622<li>P->L at 186: in LQT7, MIM: 170390<li>N->H at 216: in LQT7, MIM: 170390<li>R->W at 218: in LQT7; loss of function and dominant-negative effect in current, MIM: 170390<li>G->V at 300: in LQT7, MIM: 170390<li>V->M at 302: in LQT7, MIM: 170390<li>Missing  at 314-315: in LQT7, MIM: 170390</ul>								<li>Short QT syndrome type 3 (SQT3) [MIM:609622]</li><li>Long QT syndrome type 7 (LQT7) [MIM:170390]</li>		2
P63261	71	<ul><li>T->I at 89: in DFNA20; dbSNP:rs28999111, MIM: 604717<li>K->M at 118: in DFNA20, MIM: 604717<li>T->I at 160: in dbSNP:rs11549206, MIM: 604717<li>P->L at 264: in DFNA20, MIM: 604717<li>T->I at 278: in DFNA20; dbSNP:rs28999112, MIM: 604717<li>P->A at 332: in DFNA20, MIM: 604717<li>V->A at 370: in DFNA20; restricts cell growth at elevated temperature or under hyperosmolar stress as measured in growth assays with yeast expressing the mutation, MIM: 604717</ul>								Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	<li>rs28999111</li><li>rs11549206</li><li>rs28999112</li>	2
P63313	9168	<ul><li>M->R at 7: in dbSNP:rs1804515</ul>									rs1804515	2
P63316	7134	<ul><li>L->Q at 29: in one patient with hypertrophic cardiomyopathy; unknown pathological significance<li>G->R at 159: in CMD1Z, MIM: 611879</ul>								Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]		2
P67775	5515	<ul><li>V->A at 52: in dbSNP:rs11552681</ul>									rs11552681	2
P67936	7171	<ul><li>E->Q at 204: in a breast cancer sample; somatic mutation</ul>										2
P68032	70	<ul><li>H->Y at 90: in CMH11, MIM: 612098<li>R->C at 97: in CMH11, MIM: 612098<li>E->K at 101: in CMH11, MIM: 612098<li>M->V at 125: in patients with atrial septal defects; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function, MIM: 612098<li>P->A at 166: in CMH11, MIM: 612098<li>Y->C at 168: in CMH11, MIM: 612098<li>A->S at 297: in CMH11, MIM: 612098<li>M->L at 307: in CMH11, MIM: 612098<li>R->H at 314: in CMD1R, MIM: 102540<li>A->P at 333: in CMH11, MIM: 612098<li>E->G at 363: in CMD1R, MIM: 102540</ul>					<li>actomyosin</li><li>myosin</li>	<li>GO:0042641</li><li>GO:0016459</li>	<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>O17320</li><li>P53689</li><li>P78711</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P45520</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>P14235</li><li>O00937</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>	<li>Cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]</li><li>Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]</li>		2
P68133	58	<ul><li>G->R at 17: in CM, MIM: 102610<li>H->Y at 42: in NEM3; severe, MIM: 161800<li>L->P at 96: in NEM3; autosomal recessive, MIM: 161800<li>N->S at 117: in NEM3; autosomal dominant, MIM: 161800<li>M->V at 134: in NEM3; autosomal dominant, MIM: 161800<li>I->M at 138: in NEM3; autosomal recessive, MIM: 161800<li>V->L at 165: in CM, MIM: 102610<li>G->D at 184: in NEM3; mild, MIM: 161800<li>R->C at 185: in NEM3; severe, MIM: 161800<li>R->G at 185: in NEM3; autosomal dominant; severe, MIM: 161800<li>L->P at 223: in CFTD, MIM: 255310<li>R->H at 258: in NEM3; severe, MIM: 161800<li>E->V at 261: in NEM3; autosomal recessive, MIM: 161800<li>Q->L at 265: in NEM3; severe, MIM: 161800<li>G->C at 270: in NEM3; autosomal dominant, MIM: 161800<li>M->R at 271: in NEM3; autosomal dominant, MIM: 161800<li>N->K at 282: in NEM3; severe, MIM: 161800<li>D->G at 288: in NEM3; severe, MIM: 161800<li>D->V at 294: in CFTD, MIM: 255310<li>P->S at 334: in CFTD, MIM: 255310<li>I->L at 359: in NEM3; autosomal dominant; severe, MIM: 161800<li>V->F at 372: in NEM3; severe, MIM: 161800</ul>								<li>Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]</li><li>Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]</li><li>Nemaline myopathy type 3 (NEM3) [MIM:161800]</li>		2
P68871	3043	<ul><li>V->A at 2: in Raleigh; O: in dbSNP rsrs33949930<li>H->L at 3: in Graz; dbSNP:rs35906307: in dbSNP rsrs33983205<li>H->Q at 3: in Okayama; O: in dbSNP rsrs713040<li>H->R at 3: in Deer Lodge; O: in dbSNP rsrs33983205<li>H->Y at 3: in Fukuoka: in dbSNP rsrs35906307<li>P->R at 6: in Warwickshire; dbSNP:rs34769005<li>E->A at 7: in G-Makassar: in dbSNP rsrs334<li>E->K at 7: in C: in dbSNP rsrs33930165<li>E->Q at 7: in Machida: in dbSNP rsrs33930165<li>E->V at 7: in S; sickle cell anemia; dbSNP:rs334<li>E->G at 8: in G-San Jose; mildly unstable; dbSNP:rs34948328: in dbSNP rsrs34387455<li>E->K at 8: in G-Siriraj: in dbSNP rsrs34948328<li>K->E at 9: in N-Timone; dbSNP:rs33932981: in dbSNP rsrs33926764<li>K->Q at 9: in J-Luhe: in dbSNP rsrs33926764<li>K->T at 9: in Rio Grande<li>S->C at 10: in Porto Alegre; O: in dbSNP rsrs33918131<li>A->D at 11: in Ankara: in dbSNP rsrs33947457<li>A->V at 11: in Iraq-Halabja: in dbSNP rsrs33947457<li>V->D at 12: in Windsor; O: in dbSNP rsrs35140348<li>V->I at 12: in Hamilton: in dbSNP rsrs33974228<li>A->D at 14: in J-Lens; dbSNP:rs35203747<li>L->P at 15: in Saki; unstable: in dbSNP rsrs33935445<li>L->R at 15: in Soegn; unstable: in dbSNP rsrs33935445<li>W->G at 16: in Randwick; unstable; dbSNP:rs33946157<li>W->R at 16: in Belfast; O<li>G->D at 17: in J-Baltimore/J-Trinidad/J-Ireland/J-Georgia/N-New Haven: in dbSNP rsrs33962676<li>G->R at 17: in D-Bushman: in dbSNP rsrs63751285<li>K->E at 18: in Nagasaki; dbSNP:rs33986703<li>K->N at 18: in J-Amiens: in dbSNP rsrs36006214<li>K->Q at 18: in Nikosia: in dbSNP rsrs33986703<li>V->M at 19: in Baden; slightly unstable; dbSNP:rs35802118<li>N->D at 20: in Alamo: in dbSNP rsrs34866629<li>N->K at 20: in D-Ouleh RABAH: in dbSNP rsrs63750840<li>N->S at 20: in Malay: in dbSNP rsrs33972047<li>V->M at 21: in Olympia; O: in dbSNP rsrs35890959<li>D->G at 22: in Connecticut; O: in dbSNP rsrs33977536<li>D->H at 22: in Karlskoga: in dbSNP rsrs33950093<li>D->N at 22: in Cocody: in dbSNP rsrs33950093<li>D->Y at 22: in Yusa: in dbSNP rsrs33950093<li>E->A at 23: in G-Coushatta/G-Saskatoon/G-Taegu/Hsin Chu: in dbSNP rsrs33936254<li>E->G at 23: in G-Taipei: in dbSNP rsrs33936254<li>E->K at 23: in E-Saskatoon; unstable: in dbSNP rsrs33959855<li>E->Q at 23: in D-Iran: in dbSNP rsrs33959855<li>E->V at 23: in D-Granada: in dbSNP rsrs33936254<li>V->D at 24: in Strasbourg; O: in dbSNP rsrs33945546<li>V->F at 24: in Palmerston North; O: in dbSNP rsrs33929459<li>V->G at 24: in Miyashiro; O: in dbSNP rsrs33945546<li>G->D at 25: in Moscva; O: in dbSNP rsrs35474880<li>G->R at 25: in Riverdale-Bronx; O: in dbSNP rsrs33972975<li>G->V at 25: in Savannah; unstable<li>G->D at 26: in J-Auckland; unstable; O: in dbSNP rsrs35474880<li>G->R at 26: in G-Taiwan Ami: in dbSNP rsrs34404985<li>E->K at 27: in E<li>E->V at 27: in Henri Mondor; slightly unstable<li>A->D at 28: in Volga/Drenthe; unstable: in dbSNP rsrs33954632<li>A->S at 28: in Knossos: in dbSNP rsrs35424040<li>A->V at 28: in Grange-blanche; O: in dbSNP rsrs33954632<li>L->P at 29: in Genova/Hyogo; unstable: in dbSNP rsrs33916412<li>L->Q at 29: in St Louis: in dbSNP rsrs33916412<li>G->D at 30: in Lufkin; unstable: in dbSNP rsrs35685286<li>R->S at 31: in Tacoma; unstable: in dbSNP rsrs1135071<li>L->P at 32: in Yokohama; unstable: in dbSNP rsrs33920173<li>L->R at 33: in Castilla; unstable: in dbSNP rsrs33948578<li>L->V at 33: in Muscat; slightly unstable: in dbSNP rsrs34314652<li>V->D at 35: in Santander; unstable: in dbSNP rsrs1135101<li>V->F at 35: in Pitie-Salpetriere; O: in dbSNP rsrs1141387<li>V->L at 35: in Nantes; increased oxygen affinity: in dbSNP rsrs1141387<li>Y->F at 36: in Philly; O: in dbSNP rsrs35857380<li>P->R at 37: in Sunnybrook: in dbSNP rsrs33993004<li>P->S at 37: in North Chicago; O: in dbSNP rsrs33948615<li>P->T at 37: in Linkoping/Finlandia; O: in dbSNP rsrs33948615<li>W->G at 38: in Howick: in dbSNP rsrs33994623<li>W->R at 38: in Rothschild; O: in dbSNP rsrs33994623<li>W->S at 38: in Hirose; O: in dbSNP rsrs33991059<li>T->N at 39: in Hinwil; O: in dbSNP rsrs34703513<li>Q->E at 40: in Vaasa; unstable: in dbSNP rsrs11549407<li>Q->K at 40: in Alabama: in dbSNP rsrs11549407<li>Q->R at 40: in Tianshui: in dbSNP rsrs35973315<li>F->Y at 42: in Mequon: in dbSNP rsrs33926796<li>Missing  at 42: in Bruxelles<li>F->L at 43: in Louisville; unstable<li>F->S at 43: in Hammersmith: in dbSNP rsrs34378160<li>Missing  at 43: in Bruxelles<li>E->Q at 44: in Hoshida/Chaya<li>S->C at 45: in Mississippi: in dbSNP rsrs34868397<li>F->S at 46: in Cheverly; unstable: in dbSNP rsrs33978338<li>G->E at 47: in K-Ibadan: in dbSNP rsrs35303218<li>D->A at 48: in Avicenna: in dbSNP rsrs33980484<li>D->G at 48: in Gavello: in dbSNP rsrs33980484<li>D->Y at 48: in Maputo: in dbSNP rsrs33932070<li>L->P at 49: in Bab-Saadoum; slightly unstable: in dbSNP rsrs33952850<li>S->F at 50: in Las Palmas; slightly unstable: in dbSNP rsrs33960931<li>T->K at 51: in Edmonton<li>P->R at 52: in Willamette; O: in dbSNP rsrs33969727<li>D->A at 53: in Ocho Rios: in dbSNP rsrs33919924<li>D->H at 53: in Summer Hill: in dbSNP rsrs33961886<li>V->D at 55: in Jacksonville; O: in dbSNP rsrs34037627<li>M->K at 56: in Matera; unstable: in dbSNP rsrs35094013<li>G->R at 57: in Hamadan: in dbSNP rsrs33935983<li>N->K at 58: in G-ferrara; unstable: in dbSNP rsrs35278874<li>P->R at 59: in Dhofar/Yukuhashi: in dbSNP rsrs33991472<li>K->E at 60: in I-High Wycombe: in dbSNP rsrs33969400<li>V->A at 61: in Collingwood; unstable: in dbSNP rsrs33931779<li>K->E at 62: in N-Seatlle: in dbSNP rsrs33995148<li>K->M at 62: in Bologna; O: in dbSNP rsrs34974709<li>K->N at 62: in Hikari: in dbSNP rsrs34446260<li>A->D at 63: in J-Europa: in dbSNP rsrs34151786<li>A->P at 63: in Duarte; unstable: in dbSNP rsrs34933455<li>H->Y at 64: in M-Saskatoon; O: in dbSNP rsrs33922873<li>K->M at 66: in J-Antakya: in dbSNP rsrs33932548<li>K->N at 66: in J-Sicilia: in dbSNP rsrs35747961<li>K->Q at 66: in J-Cairo: in dbSNP rsrs35353749<li>K->T at 67: in Chico; O: in dbSNP rsrs35939489<li>V->A at 68: in Sydney; unstable: in dbSNP rsrs33918343<li>V->D at 68: in Bristol<li>V->G at 68: in non-spherocytic haemolytic anemia; Manukau; dbSNP:rs33918343<li>V->M at 68: in Alesha; unstable: in dbSNP rsrs36008922<li>L->H at 69: in Brisbane; O: in dbSNP rsrs33972593<li>L->P at 69: in Mizuho; unstable: in dbSNP rsrs33972593<li>G->D at 70: in Rambam: in dbSNP rsrs34718174<li>G->R at 70: in Kenitra: in dbSNP rsrs33947415<li>G->S at 70: in City of Hope: in dbSNP rsrs33947415<li>A->D at 71: in Seattle; O: in dbSNP rsrs33946401<li>F->S at 72: in Christchurch; unstable: in dbSNP rsrs34362537<li>D->G at 74: in Tilburg; O: in dbSNP rsrs33976006<li>D->V at 74: in Mobile; O: in dbSNP rsrs33976006<li>D->Y at 74: in Vancouver; O: in dbSNP rsrs33945705<li>G->R at 75: in Aalborg; unstable: in dbSNP rsrs33916541<li>G->V at 75: in Bushwick; unstable: in dbSNP rsrs33976006<li>L->P at 76: in Atlanta; unstable: in dbSNP rsrs33950542<li>L->R at 76: in Pasadena; O: in dbSNP rsrs33950542<li>A->D at 77: in J-Chicago<li>H->D at 78: in J-Iran: in dbSNP rsrs33991294<li>H->R at 78: in Costa Rica: in dbSNP rsrs33952543<li>H->Y at 78: in Fukuyama: in dbSNP rsrs33991294<li>L->R at 79: in Quin-hai: in dbSNP rsrs34870172<li>D->Y at 80: in Tampa: in dbSNP rsrs33990858<li>N->K at 81: in G-Szuhu/Gifu: in dbSNP rsrs35890380<li>L->H at 82: in La Roche-sur-Yon; unstable and O: in dbSNP rsrs33936967<li>L->R at 82: in Baylor; unstable: in dbSNP rsrs33936967<li>L->V at 82: in dbSNP:rs11549406<li>K->M at 83: in Helsinki; O: in dbSNP rsrs33987903<li>K->N at 83: in Providence: in dbSNP rsrs33991993<li>G->D at 84: in Pyrgos: in dbSNP rsrs1803195<li>G->R at 84: in Muskegon: in dbSNP rsrs33930385<li>T->I at 85: in Kofu: in dbSNP rsrs35914488<li>A->D at 87: in Olomouc; O: in dbSNP rsrs35819837<li>T->I at 88: in Quebec-Chori: in dbSNP rsrs33993568<li>T->K at 88: in D-Ibadan: in dbSNP rsrs33993568<li>T->P at 88: in Valletta: in dbSNP rsrs35553496<li>L->P at 89: in Santa Ana; unstable: in dbSNP rsrs33940204<li>L->R at 89: in Boras; unstable: in dbSNP rsrs33940204<li>S->N at 90: in Creteil; O: in dbSNP rsrs33917628<li>S->R at 90: in Vanderbilt; O: in dbSNP rsrs35351128<li>E->D at 91: in Pierre-Benite; O: in dbSNP rsrs35002698<li>E->K at 91: in Agenogi; O: in dbSNP rsrs33913712<li>L->P at 92: in Sabine; unstable: in dbSNP rsrs33917785<li>L->R at 92: in Caribbean; O: in dbSNP rsrs33917785<li>H->D at 93: in J-Altgelds Gardens; unstable: in dbSNP rsrs33924775<li>H->N at 93: in Isehara; unstable: in dbSNP rsrs33924775<li>H->P at 93: in Newcastle and Duino; associated with S-104 in Duino; unstable: in dbSNP rsrs33974325<li>H->Q at 93: in Istambul; O: in dbSNP rsrs34083951<li>C->R at 94: in Okazaki; O: in dbSNP rsrs33972927<li>D->G at 95: in Chandigarh<li>D->H at 95: in Barcelona; O: in dbSNP rsrs33959340<li>D->N at 95: in Bunbury; O: in dbSNP rsrs33959340<li>K->M at 96: in J-Cordoba: in dbSNP rsrs35204496<li>K->N at 96: in Detroit<li>L->P at 97: in Debrousse; unstable; O: in dbSNP rsrs36081208<li>L->V at 97: in Regina; O: in dbSNP rsrs34665886<li>H->L at 98: in Wood; O: in dbSNP rsrs33951978<li>H->P at 98: in Nagoya; O: in dbSNP rsrs33951978<li>H->Q at 98: in Malmoe; O: in dbSNP rsrs34515413<li>H->Y at 98: in Moriguchi: in dbSNP rsrs33950993<li>V->G at 99: in Nottingham; unstable: in dbSNP rsrs33985510<li>D->E at 100: in Coimbra; O: in dbSNP rsrs34013622<li>P->L at 101: in Brigham; O: in dbSNP rsrs33965000<li>P->R at 101: in New Mexico: in dbSNP rsrs33965000<li>E->D at 102: in Potomac; O: in dbSNP rsrs35209591<li>E->G at 102: in Alberta; O: in dbSNP rsrs33937393<li>E->K at 102: in British Columbia; O: in dbSNP rsrs33966487<li>E->Q at 102: in Rush; unstable: in dbSNP rsrs33966487<li>N->S at 103: in Beth Israel; O: in dbSNP rsrs33948057<li>N->Y at 103: in St Mande; O: in dbSNP rsrs33927739<li>F->L at 104: in Heathrow; O: in dbSNP rsrs35067717<li>R->S at 105: in Camperdown and Duino; associated with P-92 in Duino; unstable: in dbSNP rsrs33914944<li>R->T at 105: in Sherwood Forest: in dbSNP rsrs33911434<li>G->R at 108: in Burke; O<li>N->K at 109: in Presbyterian; O: in dbSNP rsrs34933751<li>V->M at 110: in San Diego; O: in dbSNP rsrs33969677<li>L->P at 111: in Showa-Yakushiji: in dbSNP rsrs35256489<li>V->A at 112: in Stanmore; O: in dbSNP rsrs35871407<li>C->F at 113: in Canterbury: in dbSNP rsrs33932908<li>C->R at 113: in Indianapolis<li>C->Y at 113: in Yahata: in dbSNP rsrs33932908<li>L->M at 115: in Zengcheng: in dbSNP rsrs33917394<li>L->P at 115: in Durham-N.C./Brescia; causes beta-thalassemia<li>A->D at 116: in Hradec Kralove; unstable; causes severe beta-thalassemia: in dbSNP rsrs35485099<li>A->P at 116: in Madrid; unstable: in dbSNP rsrs34945623<li>H->L at 117: in Vexin; increased oxygen affinity<li>H->Q at 117: in Hafnia: in dbSNP rsrs35209776<li>H->P at 118: in Saitama; unstable: in dbSNP rsrs33935673<li>H->R at 118: in P-Galveston: in dbSNP rsrs33935673<li>H->Y at 118: in Tsukumi: in dbSNP rsrs33935527<li>G->A at 120: in Iowa: in dbSNP rsrs33947020<li>K->E at 121: in Hijiyama: in dbSNP rsrs33924134<li>K->I at 121: in Jianghua: in dbSNP rsrs34303736<li>K->Q at 121: in Takamatsu: in dbSNP rsrs33924134<li>E->A at 122: in D-Neath: in dbSNP rsrs33987957<li>E->G at 122: in St Francis: in dbSNP rsrs33987957<li>E->K at 122: in O-Arab<li>E->Q at 122: in D-Los Angeles/D-Punjab/D-Portugal/D-Chicago/D-Oak Ridge<li>E->V at 122: in D-Camperdown/Beograd: in dbSNP rsrs33987957<li>T->I at 124: in Villejuif; asymptomatic variant: in dbSNP rsrs33935383<li>P->Q at 125: in Ty Gard; O: in dbSNP rsrs33983276<li>P->R at 125: in Khartoum; unstable: in dbSNP rsrs33983276<li>P->S at 125: in Tunis: in dbSNP rsrs35461710<li>V->A at 127: in Beirut: in dbSNP rsrs33925391<li>V->E at 127: in Hofu; unstable: in dbSNP rsrs33925391<li>V->G at 127: in Dhonburi/Neapolis; unstable; beta-thalassemia: in dbSNP rsrs33925391<li>Q->E at 128: in Complutense: in dbSNP rsrs33971634<li>Q->K at 128: in Brest; unstable: in dbSNP rsrs33971634<li>A->D at 129: in J-Guantanamo; unstable: in dbSNP rsrs33957286<li>A->P at 130: in Crete; O<li>A->V at 130: in La Desirade; O: in dbSNP rsrs33942582<li>Y->D at 131: in Wien; unstable: in dbSNP rsrs35834416<li>Y->S at 131: in Nevers: in dbSNP rsrs33937535<li>Q->E at 132: in Camden/Tokuchi/Motown: in dbSNP rsrs33910209<li>Q->K at 132: in Shelby/Leslie/Deaconess; unstable: in dbSNP rsrs33910209<li>Q->P at 132: in Shangai; unstable: in dbSNP rsrs33950778<li>Q->R at 132: in Sarrebourg; unstable: in dbSNP rsrs33950778<li>K->N at 133: in Yamagata; O: in dbSNP rsrs33946775<li>K->Q at 133: in K-Woolwich<li>V->L at 134: in Extredemura: in dbSNP rsrs34095019<li>V->E at 135: in North Shore-Caracas; unstable: in dbSNP rsrs33966761<li>A->E at 136: in Beckman; O<li>A->P at 136: in Altdorf; O: in dbSNP rsrs35492035<li>G->D at 137: in Hope; O: in dbSNP rsrs33949486<li>A->P at 139: in Brockton; unstable: in dbSNP rsrs33919821<li>N->D at 140: in Geelong; unstable<li>N->K at 140: in Hinsdale; O: in dbSNP rsrs34240441<li>N->S at 140: in S-Wake; associated with V-6<li>N->Y at 140: in Aurora; O<li>A->D at 141: in Himeji; unstable; O: in dbSNP rsrs33927093<li>A->T at 141: in St Jacques: O: in dbSNP rsrs34980264<li>A->V at 141: in Puttelange; polycythemia; O: in dbSNP rsrs33927093<li>L->R at 142: in Olmsted; unstable: in dbSNP rsrs35854892<li>A->D at 143: in Ohio; O: in dbSNP rsrs33921821<li>H->D at 144: in Rancho Mirage: in dbSNP rsrs33929415<li>H->P at 144: in Syracuse; O: in dbSNP rsrs33918338<li>H->Q at 144: in Little Rock; O: in dbSNP rsrs36020563<li>H->R at 144: in Abruzzo; O: in dbSNP rsrs33918338<li>K->E at 145: in Mito; O<li>Y->C at 146: in Rainier; O<li>Y->H at 146: in Bethesda; O: in dbSNP rsrs33949869<li>H->D at 147: in Hiroshima; O: in dbSNP rsrs33961444<li>H->L at 147: in Cowtown; O: in dbSNP rsrs33954264<li>H->P at 147: in York; O: in dbSNP rsrs33954264<li>H->Q at 147: in Kodaira; O: in dbSNP rsrs33985739</ul>							<li>Q9XTN2</li><li>Q9W0K7</li>		<li>rs33991993</li><li>rs35854892</li><li>rs33985739</li><li>rs33959855</li><li>rs33972975</li><li>rs33918338</li><li>rs35553496</li><li>rs11549407</li><li>rs33948057</li><li>rs11549406</li><li>rs34083951</li><li>rs33948578</li><li>rs33950542</li><li>rs33935383</li><li>rs35303218</li><li>rs34362537</li><li>rs33959340</li><li>rs33932908</li><li>rs33950778</li><li>rs33993568</li><li>rs34948328</li><li>rs33929415</li><li>rs33971634</li><li>rs33918343</li><li>rs35140348</li><li>rs33972593</li><li>rs33950993</li><li>rs33917628</li><li>rs35094013</li><li>rs33913712</li><li>rs35939489</li><li>rs33986703</li><li>rs33954264</li><li>rs35802118</li><li>rs35353749</li><li>rs36008922</li><li>rs33969400</li><li>rs34515413</li><li>rs33918131</li><li>rs33917394</li><li>rs33948615</li><li>rs33935983</li><li>rs33932070</li><li>rs34980264</li><li>rs33931779</li><li>rs34718174</li><li>rs34870172</li><li>rs33927739</li><li>rs33961886</li><li>rs34933455</li><li>rs34037627</li><li>rs33945705</li><li>rs35685286</li><li>rs33985510</li><li>rs34665886</li><li>rs35914488</li><li>rs33947415</li><li>rs33952543</li><li>rs34095019</li><li>rs33961444</li><li>rs33949930</li><li>rs33966761</li><li>rs33962676</li><li>rs34446260</li><li>rs33991059</li><li>rs34240441</li><li>rs1803195</li><li>rs33925391</li><li>rs33911434</li><li>rs33926764</li><li>rs33957286</li><li>rs33916412</li><li>rs33974325</li><li>rs35256489</li><li>rs63750840</li><li>rs34945623</li><li>rs34769005</li><li>rs33977536</li><li>rs35461710</li><li>rs36006214</li><li>rs36020563</li><li>rs35890380</li><li>rs34868397</li><li>rs1135101</li><li>rs34404985</li><li>rs34303736</li><li>rs1141387</li><li>rs33930385</li><li>rs34013622</li><li>rs34387455</li><li>rs33936967</li><li>rs33929459</li><li>rs33978338</li><li>rs35351128</li><li>rs35973315</li><li>rs33954632</li><li>rs33910209</li><li>rs34866629</li><li>rs33949869</li><li>rs33921821</li><li>rs33922873</li><li>rs33935445</li><li>rs33946775</li><li>rs33987957</li><li>rs35485099</li><li>rs33987903</li><li>rs35209591</li><li>rs63751285</li><li>rs35834416</li><li>rs33991472</li><li>rs35492035</li><li>rs33942582</li><li>rs1135071</li><li>rs33919821</li><li>rs35204496</li><li>rs33919924</li><li>rs33969727</li><li>rs33946401</li><li>rs33976006</li><li>rs33937535</li><li>rs334</li><li>rs35209776</li><li>rs33932548</li><li>rs33914944</li><li>rs35819837</li><li>rs35871407</li><li>rs33937393</li><li>rs34933751</li><li>rs33960931</li><li>rs33969677</li><li>rs33991294</li><li>rs35278874</li><li>rs33947020</li><li>rs35002698</li><li>rs33980484</li><li>rs33949486</li><li>rs33924775</li><li>rs33950093</li><li>rs33966487</li><li>rs33993004</li><li>rs33936254</li><li>rs34314652</li><li>rs35474880</li><li>rs33916541</li><li>rs33972927</li><li>rs35067717</li><li>rs35424040</li><li>rs33990858</li><li>rs713040</li><li>rs35747961</li><li>rs33926796</li><li>rs33983205</li><li>rs33972047</li><li>rs33952850</li><li>rs33965000</li><li>rs33947457</li><li>rs34974709</li><li>rs33995148</li><li>rs33927093</li><li>rs33945546</li><li>rs33951978</li><li>rs33994623</li><li>rs33917785</li><li>rs35890959</li><li>rs33935527</li><li>rs33920173</li><li>rs33930165</li><li>rs33983276</li><li>rs33940204</li><li>rs35906307</li><li>rs35203747</li><li>rs34703513</li><li>rs34378160</li><li>rs34151786</li><li>rs35857380</li><li>rs36081208</li><li>rs33935673</li><li>rs33974228</li><li>rs33924134</li>	2
P69891		<ul><li>H->Q at 3: in Macedonia-I<li>E->K at 6: in Texas-1<li>E->G at 7: in Izumi/Kotobuki<li>E->Q at 7: in Pordenone<li>T->R at 13: in Calluna<li>D->G at 23: in Kuala Lumpur<li>G->R at 26: in Xinjiang; unstable<li>P->R at 37: in Pendergrass<li>W->G at 38: in Cobb<li>Q->R at 40: in Bonaire<li>R->K at 41: in Woodstock<li>D->N at 44: in Fukuyama<li>A->D at 54: in Beech island<li>K->E at 62: in Jamaica<li>G->R at 73: in Iwata<li>D->H at 74: in Xin-su<li>D->N at 74: in Forest Park; associated with T-76<li>I->T at 76: in Sardinia/Forest Park; associated with N-74; dbSNP:rs1061234<li>D->N at 80: in Dammam<li>D->N at 81: in Yamaguchi<li>D->Y at 81: in Victoria jubilee<li>H->R at 98: in Dickinson<li>E->K at 122: in Siena/Hull<li>A->T at 129: in Baskent<li>V->M at 135: in Jiangsu</ul>										2
P69892	3048	<ul><li>G->C at 2: in Malaysia<li>E->G at 6: in Meinohama<li>D->N at 8: in Auckland<li>K->E at 9: in Albaicin<li>K->Q at 9: in Albaicin<li>T->R at 13: in Heather<li>W->R at 16: in Catalonia<li>G->R at 17: in Melbourne<li>K->N at 18: in Clamart<li>N->K at 20: in Ouled Rabah<li>V->A at 21: in Bron<li>E->K at 22: in Saskatoon<li>E->Q at 22: in Fuchu<li>D->G at 23: in Urumqi<li>D->V at 23: in Granada<li>G->E at 26: in Cosenza<li>E->K at 27: in Oakland<li>V->I at 35: in Tokyo<li>T->P at 39: in Bonheiden; causes severe hereditary haemolytic anaemia<li>R->G at 41: in Veleta<li>R->K at 41: in Austell<li>F->S at 42: in Cincinnati<li>S->R at 45: in Lodz<li>M->R at 56: in Kingston<li>K->E at 60: in Emirates<li>K->Q at 60: in Sacromonte<li>H->L at 64: in M-Circleville<li>H->Y at 64: in Osaka; it causes cyanosis<li>K->N at 66: in Clarke<li>K->Q at 67: in Brooklyn<li>K->R at 67: in Shanghai<li>G->R at 73: in Minoo<li>I->T at 76: in LesVos/Waynesboro/Charlotte; dbSNP:rs1061234<li>I->V at 76: in Coigneres<li>H->R at 78: in Kennestone<li>D->N at 81: in Marietta<li>H->Y at 93: in Fort Ripley; it causes cyanosis: in dbSNP rsrs35103459<li>D->N at 95: in Columbus-Ga<li>E->K at 102: in La Grange<li>K->N at 105: in Macedonia-II<li>H->R at 118: in Malta-1<li>F->L at 119: in Calabria<li>K->Q at 121: in Caltech: in dbSNP rsrs34703519<li>E->K at 122: in Carlton<li>E->A at 126: in Port-Royal<li>W->G at 131: in Poole; unstable<li>H->Y at 147: in Onoda; O: in dbSNP rsrs34807671</ul>									<li>rs35103459</li><li>rs34807671</li><li>rs34703519</li>	2
P69905	3039	<ul><li>V->E at 2: in Thionville; O<li>L->R at 3: in ChongQing; O: in dbSNP rsrs36030576<li>A->D at 6: in J-Toronto<li>A->P at 6: in Karachi<li>D->A at 7: in Sawara; O<li>D->G at 7: in Swan River<li>D->N at 7: in Dunn; O<li>D->V at 7: in Ferndown; O<li>D->Y at 7: in Woodville; O<li>K->E at 8: in Kurosaki<li>N->T at 10: in Broomfield<li>V->F at 11: in dbSNP:rs1799896<li>K->E at 12: in Anantharaj<li>A->D at 13: in J-Paris 1/J-Aljezur<li>A->P at 14: in Ravenscourt Park; causes alpha-thalassemia<li>W->R at 15: in Evanston; O<li>G->R at 16: in Ottawa/Siam<li>K->M at 17: in Harbin; slightly unstable<li>K->N at 17: in Beijing<li>G->D at 19: in Al-Ain Abu Dhabi<li>G->R at 19: in Handsworth<li>A->D at 20: in J-Kurosh<li>A->E at 20: in J-Tashikuergan<li>H->Q at 21: in Le Lamentin<li>H->R at 21: in Hobart<li>A->D at 22: in J-Nyanza<li>A->P at 22: in Fontainebleau<li>G->D at 23: in J-Medellin<li>E->G at 24: in Reims; slightly unstable<li>E->K at 24: in Chad<li>Y->H at 25: in Luxembourg; unstable<li>A->E at 27: in Shenyang; unstable<li>A->V at 27: in Campinas<li>E->D at 28: in Hekinan<li>E->G at 28: in Fort Worth<li>E->V at 28: in Spanish town<li>E->K at 31: in O-Padova<li>R->K at 32: causes alpha-thalassemia<li>R->S at 32: in Prato; unstable<li>L->R at 35: in Queens/Ogi<li>P->PE at 38: in Catonsville<li>P->R at 38: in Bourmedes<li>K->M at 41: in Kanagawa; O<li>T->S at 42: in Miyano; O<li>F->L at 44: in Hirosaki; unstable<li>P->L at 45: in Milledgeville; O<li>P->R at 45: in Kawachi; O<li>H->Q at 46: in Bari<li>H->R at 46: in Fort de France; O<li>D->A at 48: in Cordele; unstable<li>D->G at 48: in Umi/Michigan; unstable<li>D->H at 48: in Hasharon/Sinai; unstable<li>D->Y at 48: in Kurdistan<li>L->R at 49: in Montgomery<li>S->R at 50: in Savaria<li>H->R at 51: in Aichi; slightly unstable<li>G->D at 52: in J-Abidjan<li>G->R at 52: in Russ<li>A->D at 54: in J-Rovigo; unstable<li>Q->R at 55: in Hikoshima/Shimonoseki<li>K->R at 57: in Port Huron<li>K->T at 57: in Thailand<li>G->R at 58: in L-Persian Gulf<li>H->Q at 59: in Boghe<li>H->Y at 59: in M-Boston/M-Osaka; O<li>G->D at 60: in Adana; unstable; causes alpha-thalassemia; dbSNP:rs28928878<li>G->V at 60: in Tottori; unstable<li>K->N at 61: in Zambia; dbSNP:rs28928887<li>Missing  at 61: in Clinic; unstable; causes alpha-thalassemia<li>K->N at 62: in J-Buda<li>K->T at 62: in J-Anatolia<li>V->M at 63: in Evans; unstable<li>A->D at 64: in Pontoise; unstable<li>D->Y at 65: in Persepolis<li>N->K at 69: in G-Philadelphia; dbSNP:rs1060339<li>A->E at 72: in J-Habana<li>A->V at 72: in Ozieri<li>H->R at 73: in Daneskgah-Teheran<li>D->A at 75: in Lille<li>D->G at 75: in Chapel Hill<li>D->N at 75: in G-Pest<li>D->A at 76: in Duan<li>D->H at 76: in Q-Iran<li>M->K at 77: in Noko<li>M->T at 77: in Aztec<li>P->R at 78: in Guizhou<li>N->H at 79: in Davenport<li>N->K at 79: in Stanleyville-2<li>A->G at 80: in Singapore<li>L->R at 81: in Ann Arbor; unstable<li>S->C at 82: in Nigeria<li>A->D at 83: in Garden State<li>S->R at 85: in Etobicoke; O: in dbSNP rsrs63750023<li>D->V at 86: in Inkster; O<li>D->Y at 86: in Atago; O: in dbSNP rsrs63750958<li>L->R at 87: in Moabit; unstable<li>H->N at 88: in Auckland; unstable<li>H->R at 88: in Iwata; unstable<li>A->S at 89: in Loire; O<li>K->M at 91: in Handa; O<li>L->F at 92: in dbSNP:rs17407508<li>L->P at 92: in Port Phillip; unstable; dbSNP:rs17407508<li>R->Q at 93: in J-Cape Town; O<li>R->W at 93: in Cemenelum; O<li>D->A at 95: in Bassett; markedly reduced oxygen affinity<li>D->Y at 95: in Setif; unstable<li>P->A at 96: in Denmark Hill; O<li>P->T at 96: in Godavari; O<li>N->K at 98: in Dallas; O<li>K->E at 100: in Turriff<li>S->R at 103: in Manitoba; slightly unstable; dbSNP:rs41344646: in dbSNP rsrs34098449<li>H->R at 104: in Contaldo; unstable: in dbSNP rsrs35329201<li>H->Y at 104: in Charolles: in dbSNP rsrs28928884<li>L->R at 110: in Suan-Dok; unstable; causes alpha-thalassemia<li>A->D at 111: in Petah Tikva; unstable; causes alpha-thalassemia: in dbSNP rsrs63749948<li>H->D at 113: in Hopkins-II; unstable: in dbSNP rsrs63749881<li>L->H at 114: in Twin Peaks: in dbSNP rsrs63751116<li>P->L at 115: in Nouakchott: in dbSNP rsrs63750388<li>P->R at 115: in Chiapas: in dbSNP rsrs63750388<li>P->S at 115: in Melusine: in dbSNP rsrs63751114<li>A->D at 116: in J-Tongariki: in dbSNP rsrs63750290<li>E->A at 117: in Ube-4: in dbSNP rsrs63750606<li>E->EHLPAE at 117: in Zaire<li>F->FI at 118: in Phnom Penh<li>T->TEFT at 119: in Grady<li>A->E at 121: in J-Meerut/J-Birmingham: in dbSNP rsrs63749927<li>V->M at 122: in Owari: in dbSNP rsrs63751008<li>H->Q at 123: in Westmead<li>L->P at 126: in Quong Sze; causes alpha-thalassemia<li>L->R at 126: in Plasencia; family with moderate microcytosis and hypochromia<li>D->G at 127: in West One: in dbSNP rsrs63750467<li>D->V at 127: in Fukutomi; O: in dbSNP rsrs63750467<li>D->Y at 127: in Monteriore; O: in dbSNP rsrs63750950<li>K->N at 128: in Jackson<li>L->P at 130: in Tunis-Bizerte; unstable; causes alpha-thalassemia<li>A->D at 131: in Yuda; O<li>A->P at 131: in Sun Prairie; unstable<li>S->P at 132: in Questembert; highly unstable; causes alpha-thalassemia: in dbSNP rsrs35974739<li>S->R at 134: in Val de Marne; O: in dbSNP rsrs56308100,rs55948437<li>V->E at 136: in Pavie: in dbSNP rsrs35994191<li>L->M at 137: in Chicago<li>L->P at 137: in Bibba; unstable; causes alpha-thalassemia<li>L->R at 137: in Toyama: in dbSNP rsrs34635364<li>S->P at 139: in Attleboro; O: in dbSNP rsrs34011123<li>K->E at 140: in Hanamaki; O: in dbSNP rsrs33973086<li>K->T at 140: in Tokoname; O: in dbSNP rsrs34849179<li>Y->H at 141: in Rouen/Ethiopia; O: in dbSNP rsrs35723200<li>R->C at 142: in Nunobiki; O: in dbSNP rsrs33991910<li>R->H at 142: in Suresnes; O: in dbSNP rsrs33935328<li>R->L at 142: in Legnano; O: in dbSNP rsrs33935328<li>R->P at 142: in Singapore: in dbSNP rsrs33935328</ul>							P97465		<li>rs63750290</li><li>rs34011123</li><li>rs28928884</li><li>rs55948437</li><li>rs63749948</li><li>rs56308100</li><li>rs35723200</li><li>rs63751114</li><li>rs63749881</li><li>rs35994191</li><li>rs34635364</li><li>rs63750388</li><li>rs63751008</li><li>rs63750950</li><li>rs63750606</li><li>rs63750467</li><li>rs1799896</li><li>rs63750958</li><li>rs33935328</li><li>rs34849179</li><li>rs35974739</li><li>rs33973086</li><li>rs63751116</li><li>rs17407508</li><li>rs63750023</li><li>rs63749927</li><li>rs35329201</li><li>rs36030576</li><li>rs34098449</li><li>rs33991910</li>	2
P78310	1525	<ul><li>S->R at 323: in dbSNP:rs34727960</ul>									rs34727960	2
P78312	8603	<ul><li>M->V at 192: in dbSNP:rs17164077</ul>									rs17164077	2
P78314	6452	<ul><li>R->P at 415: in CRBM, MIM: 118400<li>R->Q at 415: in CRBM, MIM: 118400<li>P->H at 418: in CRBM, MIM: 118400<li>P->L at 418: in CRBM, MIM: 118400<li>P->R at 418: in CRBM, MIM: 118400<li>G->E at 420: in CRBM: in dbSNP rsrs28938171, MIM: 118400<li>G->R at 420: in CRBM: in dbSNP rsrs28938170, MIM: 118400</ul>								Cherubism (CRBM) [MIM:118400]	<li>rs28938170</li><li>rs28938171</li>	2
P78316	8602	<ul><li>L->S at 380: in dbSNP:rs2515960</ul>									rs2515960	2
P78318	3476	<ul><li>R->K at 20: in dbSNP:rs6625580</ul>									rs6625580	2
P78324	140885	<ul><li>PA->RS at 6-7<li>A->P at 20<li>D->E at 40<li>S->L at 44: in dbSNP rsrs1135193<li>S->T at 50: in dbSNP rsrs17855609<li>I->A at 52: requires 2 nucleotide substitutions<li>I->T at 52: in dbSNP rsrs17855610<li>H->E at 54: requires 2 nucleotide substitutions<li>H->R at 54: in dbSNP rsrs17855611<li>V->A at 57: in dbSNP rsrs17855612<li>I->N at 61<li>W->R at 68<li>A->G at 75: in dbSNP:rs1057114<li>E->K at 77<li>N->H at 81<li>E->D at 95<li>S->L at 96<li>E->N at 100: requires 2 nucleotide substitutions<li>E->T at 100: requires 2 nucleotide substitutions<li>S->C at 107<li>S->R at 107: in dbSNP rsrs17855615<li>S->G at 109: in dbSNP rsrs17855616<li>R->Q at 125<li>T->V at 131: requires 2 nucleotide substitutions<li>F->L at 133<li>Q->D at 162: requires 2 nucleotide substitutions<li>T->S at 180<li>E->Q at 189<li>VG->AR at 200-201<li>K->N at 213<li>E->G at 219<li>V->I at 221<li>Q->R at 235<li>PL->SF at 238-239<li>R->Q at 250<li>Q->L at 260<li>V->M at 262<li>V->I at 270<li>R->T at 275<li>V->L at 301: in dbSNP:rs2422666<li>P->S at 338<li>P->L at 352<li>G->S at 356<li>S->P at 366<li>R->Q at 369<li>A->E at 388<li>Q->R at 442<li>P->L at 459<li>A->L at 485: requires 2 nucleotide substitutions<li>P->L at 490</ul>									<li>rs17855611</li><li>rs2422666</li><li>rs1057114</li><li>rs17855610</li><li>rs17855612</li><li>rs17855615</li><li>rs17855616</li><li>rs1135193</li><li>rs17855609</li>	2
P78329	8529	<ul><li>S->Y at 7: in dbSNP:rs3093104<li>W->G at 12: in dbSNP:rs3093105<li>G->V at 185: in dbSNP:rs3093153<li>A->D at 269: in dbSNP:rs1805040<li>V->M at 433: in dbSNP:rs2108622<li>L->M at 519: in dbSNP:rs3093200</ul>									<li>rs3093105</li><li>rs3093104</li><li>rs3093153</li><li>rs3093200</li><li>rs2108622</li><li>rs1805040</li>	2
P78330	5723	<ul><li>D->N at 32: in PSPHD: in dbSNP rsrs28933976, MIM: 172480<li>M->T at 52: in PSPHD, MIM: 172480</ul>								3-phosphoserine phosphatase deficiency [MIM:172480]	rs28933976	2
P78332	10180	<ul><li>S->F at 353: in NSCLC<li>N->T at 721: in dbSNP:rs34707170</ul>									rs34707170	2
P78333	2262	<ul><li>A->V at 155: in dbSNP:rs553717</ul>									rs553717	2
P78334	2564	<ul><li>S->A at 102: in dbSNP:rs1139916</ul>									rs1139916	2
P78337	5307	<ul><li>G->A at 299: in dbSNP:rs479632</ul>									rs479632	2
P78344	1982	<ul><li>L->M at 236: in dbSNP:rs34885591</ul>									rs34885591	2
P78345	10557	<ul><li>I->V at 86: in dbSNP:rs3814171<li>E->D at 88: in dbSNP:rs1052157<li>A->V at 114: in dbSNP:rs1132078<li>A->G at 181: in dbSNP:rs15772<li>S->R at 202: in dbSNP:rs12249258<li>I->T at 212: in dbSNP:rs10242<li>R->G at 250: in dbSNP:rs34040166</ul>									<li>rs1052157</li><li>rs34040166</li><li>rs1132078</li><li>rs3814171</li><li>rs10242</li><li>rs15772</li><li>rs12249258</li>	2
P78346	10556	<ul><li>G->D at 12: in dbSNP:rs11544145</ul>									rs11544145	2
P78347	2969	<ul><li>L->V at 174: in dbSNP:rs1057896</ul>									rs1057896	2
P78357	8506	<ul><li>V->L at 522: in dbSNP:rs35437096</ul>									rs35437096	2
P78362	6733	<ul><li>P->L at 43: in dbSNP rsrs34699980<li>G->D at 243: in a glioblastoma multiforme sample; somatic mutation<li>T->P at 426: in dbSNP rsrs55743527<li>S->F at 486: in dbSNP rsrs56112661<li>P->T at 515: in dbSNP rsrs56017595</ul>									<li>rs56017595</li><li>rs34699980</li><li>rs56112661</li><li>rs55743527</li>	2
P78363	24	<ul><li>L->P at 11: in FFM, MIM: 248200<li>Missing  at 13-15: in STGD1, MIM: 248200<li>R->W at 18: in STGD1, MIM: 248200<li>R->H at 24: in STGD1, MIM: 248200<li>C->Y at 54: in STGD1, MIM: 248200<li>N->K at 58: in STGD1, MIM: 248200<li>A->E at 60: in STGD1, MIM: 248200<li>A->T at 60: in STGD1, MIM: 248200<li>A->V at 60: in STGD1: in dbSNP rsrs55732384, MIM: 248200<li>G->E at 65: in STGD1 and CORD3, MIM: 248200<li>P->L at 68: in STGD1, MIM: 248200<li>P->R at 68: in STGD1, MIM: 248200<li>G->R at 72: in STGD1, MIM: 248200<li>C->G at 75: in STGD1, MIM: 248200<li>V->E at 77: in STGD1, MIM: 248200<li>N->D at 96: in STGD1, MIM: 248200<li>N->H at 96: in STGD1, MIM: 248200<li>S->P at 100: in STGD1, MIM: 248200<li>R->Q at 152, MIM: 248200<li>I->V at 156: in STGD1, MIM: 248200<li>Q->H at 190: in STGD1, MIM: 248200<li>A->T at 192: in STGD1, MIM: 248200<li>S->R at 206: in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis, MIM: 248200<li>R->C at 212: in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity, MIM: 248200<li>R->H at 212: in dbSNP:rs6657239, MIM: 248200<li>R->C at 220: in STGD1, MIM: 248200<li>T->M at 224: in a breast cancer sample; somatic mutation, MIM: 248200<li>C->S at 230: in STGD1, MIM: 248200<li>L->P at 244: in STGD1, MIM: 248200<li>N->S at 247: in STGD1, MIM: 248200<li>D->G at 249: in STGD1, MIM: 248200<li>T->N at 300: in STGD1, MIM: 248200<li>P->R at 309: in STGD1, MIM: 248200<li>E->V at 328: in STGD1, MIM: 248200<li>R->W at 333: in STGD1, MIM: 248200<li>S->C at 336: in STGD1, MIM: 248200<li>W->G at 339: in FFM, MIM: 248200<li>Y->D at 340: in STGD1, MIM: 248200<li>N->K at 380: in STGD1, MIM: 248200<li>A->V at 407: in STGD1 and CORD3, MIM: 248200<li>H->R at 423: in dbSNP:rs3112831, MIM: 248200<li>S->R at 445: in STGD1, MIM: 248200<li>E->K at 471: in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548, MIM: 248200<li>D->E at 523: in STGD1, MIM: 248200<li>F->C at 525: in STGD1, MIM: 248200<li>R->C at 537: in STGD1, MIM: 248200<li>L->P at 541: in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis, MIM: 248200<li>A->P at 549: in STGD1, MIM: 248200<li>G->R at 550: in STGD1, MIM: 248200<li>V->I at 552, MIM: 248200<li>R->P at 572: in STGD1, MIM: 248200<li>R->Q at 572: in STGD1, MIM: 248200<li>R->Q at 602: in STGD1, MIM: 248200<li>R->W at 602: in STGD1, MIM: 248200<li>G->R at 607: in STGD1, MIM: 248200<li>G->W at 607: in STGD1, MIM: 248200<li>F->I at 608: in STGD1, MIM: 248200<li>Q->K at 635: in STGD1, MIM: 248200<li>Q->H at 636: in STGD1, MIM: 248200<li>V->G at 643, MIM: 248200<li>V->M at 643: in STGD1, MIM: 248200<li>D->N at 645: in STGD1, MIM: 248200<li>R->C at 653: in STGD1, MIM: 248200<li>L->S at 686: in STGD1, MIM: 248200<li>T->M at 716: in STGD1, MIM: 248200<li>S->I at 752: in dbSNP:rs1801369, MIM: 248200<li>C->Y at 764: in STGD1, MIM: 248200<li>S->N at 765: in STGD1, MIM: 248200<li>S->R at 765: in STGD1, MIM: 248200<li>V->D at 767: in STGD1, MIM: 248200<li>L->P at 797: in STGD1, MIM: 248200<li>G->E at 818: in ARMD2 and STGD1; reduced ATP-binding capacity, MIM: 248200<li>W->R at 821: in STGD1, MIM: 248200<li>I->T at 824: in STGD1, MIM: 248200<li>D->H at 846, MIM: 248200<li>V->A at 849: in STGD1, MIM: 248200<li>G->D at 851: in STGD1; highly reduced ATP-binding capacity, MIM: 248200<li>A->T at 854: in STGD1, MIM: 248200<li>G->A at 863: in STGD1, FFM and CORD3; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis, MIM: 248200<li>Missing  at 863: in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis, MIM: 248200<li>F->L at 873: in STGD1, MIM: 248200<li>T->I at 897: in STGD1, MIM: 248200<li>T->A at 901, MIM: 248200<li>H->R at 914, MIM: 248200<li>V->M at 931: in STGD1: in dbSNP rsrs58331765, MIM: 248200<li>V->A at 935: in STGD1, MIM: 248200<li>R->Q at 943: in linkage disequilibrium with A-863 in the European population; dbSNP:rs1801581, MIM: 248200<li>R->W at 943: in STGD1 and FFM, MIM: 248200<li>Q->R at 957: in STGD1, MIM: 248200<li>T->I at 959: in STGD1, MIM: 248200<li>N->S at 965: in STGD1; reduced retinal-stimulated ATP hydrolysis, MIM: 248200<li>T->N at 971: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis, MIM: 248200<li>T->N at 972: in STGD1; could be a rare polymorphism, MIM: 248200<li>S->P at 974: in STGD1, MIM: 248200<li>G->C at 978: in STGD1, MIM: 248200<li>V->A at 989: in STGD1, MIM: 248200<li>G->R at 991: in FFM, MIM: 248200<li>L->R at 1014: in STGD1, MIM: 248200<li>T->A at 1019: in STGD1, MIM: 248200<li>T->M at 1019: in STGD1, MIM: 248200<li>E->K at 1022: in STGD1, MIM: 248200<li>K->E at 1031: in STGD1, MIM: 248200<li>E->K at 1036: in STGD1, MIM: 248200<li>A->V at 1038: in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis, MIM: 248200<li>R->W at 1055: in STGD1, MIM: 248200<li>S->P at 1063: in STGD1, MIM: 248200<li>S->L at 1071: in STGD1; reduced ATP-binding capacity, MIM: 248200<li>V->A at 1072: in STGD1, MIM: 248200<li>E->D at 1087: in STGD1, MIM: 248200<li>E->K at 1087: in STGD1, MIM: 248200<li>G->E at 1091: in FFM, MIM: 248200<li>R->C at 1097: in STGD1, MIM: 248200<li>R->C at 1108: in STGD1 and FFM; reduced ATP-binding capacity, MIM: 248200<li>R->H at 1108: in STGD1, MIM: 248200<li>R->L at 1108: in STGD1, MIM: 248200<li>T->N at 1112: in STGD1, MIM: 248200<li>E->K at 1122: in STGD1 and CORD3, MIM: 248200<li>R->C at 1129: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine, MIM: 248200<li>R->L at 1129: in ARMD2, STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs1801269, MIM: 248200<li>K->T at 1148, MIM: 248200<li>L->R at 1201: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine, MIM: 248200<li>D->N at 1204: in STGD1, MIM: 248200<li>L->P at 1250: in STGD1, MIM: 248200<li>T->M at 1253: in FFM; could be a rare polymorphism, MIM: 248200<li>R->Q at 1300: in STGD1, MIM: 248200<li>P->T at 1314, MIM: 248200<li>P->L at 1380: in STGD1; reduced ATP-binding capacity, MIM: 248200<li>L->P at 1388: in STGD1, MIM: 248200<li>E->K at 1399: in STGD1, MIM: 248200<li>H->Y at 1406: in STGD1, MIM: 248200<li>W->L at 1408: in STGD1, MIM: 248200<li>W->R at 1408: in STGD1; reduced retinal-stimulated ATP hydrolysis, MIM: 248200<li>T->M at 1428: in ARMD2; dbSNP:rs1800549, MIM: 153800<li>V->A at 1429: in STGD1, MIM: 248200<li>L->P at 1430: in STGD1, MIM: 248200<li>V->I at 1433: in STGD1: in dbSNP rsrs56357060, MIM: 248200<li>G->D at 1439: in STGD1, MIM: 248200<li>F->S at 1440: in STGD1, MIM: 248200<li>F->V at 1440: in STGD1, MIM: 248200<li>R->H at 1443: in STGD1, MIM: 248200<li>P->L at 1486: in STGD1, MIM: 248200<li>C->F at 1488: in STGD1, MIM: 248200<li>C->R at 1488: in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis, MIM: 248200<li>C->Y at 1488: in STGD1, MIM: 248200<li>C->Y at 1490: in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis, MIM: 248200<li>G->C at 1508: in FFM, MIM: 248200<li>Q->R at 1513: in STGD1, MIM: 248200<li>R->S at 1517: in ARMD2; dbSNP:rs1800550, MIM: 153800<li>L->P at 1525: in STGD1, MIM: 248200<li>T->M at 1526: in STGD1; reduced retinal-stimulated ATP hydrolysis, MIM: 248200<li>D->N at 1532: in STGD1, MIM: 248200<li>T->M at 1537: in STGD1, MIM: 248200<li>I->T at 1562: in STGD1, FFM, ARMD2 and CORD3; dbSNP:rs1762111, MIM: 248200<li>G->R at 1578: in ARMD2; dbSNP:rs1800551, MIM: 153800<li>A->D at 1598: in CORD3, MIM: 604116<li>L->P at 1631: in STGD1, MIM: 248200<li>A->T at 1637: rare polymorphism, MIM: 248200<li>R->Q at 1640: in STGD1, FFM and CORD3, MIM: 248200<li>R->W at 1640: in STGD1 and CORD3, MIM: 248200<li>Y->D at 1652: in STGD1, MIM: 248200<li>Missing  at 1681-1685: in STGD1; highly reduced ATP-binding capacity, MIM: 248200<li>S->P at 1689: in STGD1, MIM: 248200<li>V->I at 1693: in STGD1, MIM: 248200<li>S->N at 1696: in STGD1, MIM: 248200<li>Q->K at 1703: in STGD1, MIM: 248200<li>R->L at 1705: in STGD1, MIM: 248200<li>L->P at 1729: in STGD1, MIM: 248200<li>M->T at 1733: in STGD1, MIM: 248200<li>S->P at 1736: in STGD1, MIM: 248200<li>G->R at 1748: in STGD1, MIM: 248200<li>Missing  at 1761-1763: in STGD1; highly reduced ATP-binding capacity, MIM: 248200<li>L->P at 1763: in STGD1, MIM: 248200<li>P->L at 1776: in STGD1, MIM: 248200<li>P->A at 1780: in STGD1, MIM: 248200<li>A->D at 1794: in STGD1, MIM: 248200<li>N->D at 1799: in STGD1, MIM: 248200<li>N->D at 1805: in STGD1, MIM: 248200<li>E->D at 1817: in dbSNP rsrs1129480, MIM: 248200<li>R->P at 1820: in STGD1, MIM: 248200<li>H->Y at 1838: in STGD1, MIM: 248200<li>R->W at 1843: in STGD1, MIM: 248200<li>I->T at 1846, MIM: 248200<li>N->I at 1868: slightly reduced retinal-stimulated ATP hydrolysis; dbSNP:rs1801466, MIM: 248200<li>V->E at 1884: in STGD1, MIM: 248200<li>E->K at 1885: in STGD1, MIM: 248200<li>G->E at 1886: in STGD1; highly reduced ATP-binding capacity, MIM: 248200<li>Missing  at 1890: in STGD1, MIM: 248200<li>V->D at 1896: in STGD1, MIM: 248200<li>R->H at 1898: in STGD1 and ARMD2; dbSNP:rs1800552, MIM: 248200<li>V->M at 1921, MIM: 248200<li>L->P at 1940: in STGD1 and FFM, MIM: 248200<li>P->L at 1948: in dbSNP rsrs56142141, MIM: 248200<li>G->E at 1961: in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553, MIM: 248200<li>L->F at 1970: in ARMD2 and FFM; dbSNP:rs1800554: in dbSNP rsrs1800554,rs28938473, MIM: 248200<li>L->R at 1971: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis, MIM: 248200<li>G->R at 1975: in STGD1, MIM: 248200<li>G->S at 1977: in STGD1; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal, MIM: 248200<li>L->F at 2027: in STGD1 and FFM; highly reduced ATP-binding capacity, MIM: 248200<li>R->Q at 2030: in STGD1 and FFM, MIM: 248200<li>L->P at 2035: in STGD1, MIM: 248200<li>R->W at 2038: in STGD1; highly reduced ATP-binding capacity, MIM: 248200<li>V->L at 2050: in STGD1: in dbSNP rsrs41292677, MIM: 248200<li>G->A at 2059, MIM: 248200<li>L->R at 2060: in CORD3, MIM: 604116<li>Y->F at 2071: in STGD1, MIM: 248200<li>R->G at 2077: in STGD1, MIM: 248200<li>R->W at 2077: in STGD1; highly reduced ATP-binding capacity, MIM: 248200<li>E->K at 2096: in STGD1; inhibition of ATP hydrolysis by retinal, MIM: 248200<li>R->C at 2106: in STGD1 and FFM; reduced ATP-binding capacity, MIM: 248200<li>R->C at 2107: in STGD1, MIM: 248200<li>R->H at 2107: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine, MIM: 248200<li>H->R at 2128: in STGD1, MIM: 248200<li>E->K at 2131: in STGD1, MIM: 248200<li>R->W at 2139: in STGD1, MIM: 248200<li>G->D at 2146: in CORD3, MIM: 604116<li>R->L at 2149: in STGD1, MIM: 248200<li>C->R at 2150: in STGD1, MIM: 248200<li>C->Y at 2150: in STGD1 and CORD3, MIM: 248200<li>K->R at 2160: in STGD1, MIM: 248200<li>D->N at 2177: may be associated with ARMD2; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555: in dbSNP rsrs1800555,rs56615660, MIM: 248200<li>A->V at 2216, MIM: 248200<li>L->P at 2229: in STGD1, MIM: 248200<li>L->V at 2241: in STGD1, MIM: 248200<li>S->I at 2255: in dbSNP:rs6666652, MIM: 248200<li>R->L at 2263: in STGD1, MIM: 248200</ul>	ATP-hydrolysis	GO:0006200	ATP-binding	GO:0005524				<li>Cone-rod dystrophy type 3 (CORD3) [MIM:604116]</li><li>Fundus flavimaculatus (FFM) [MIM:248200]</li><li>Age-related macular degeneration type 2 (ARMD2) [MIM:153800]</li><li>Stargardt disease type 1 (STGD1) [MIM:248200]</li>	<li>rs1800553</li><li>rs56142141</li><li>rs1800552</li><li>rs1801269</li><li>rs56357060</li><li>rs1800551</li><li>rs1800550</li><li>rs1801369</li><li>rs1800555</li><li>rs56615660</li><li>rs1800554</li><li>rs58331765</li><li>rs41292677</li><li>rs28938473</li><li>rs6666652</li><li>rs1762111</li><li>rs55732384</li><li>rs6657239</li><li>rs1800548</li><li>rs1801581</li><li>rs1800549</li><li>rs3112831</li><li>rs1129480</li><li>rs1801466</li>	2
P78368	1455	<ul><li>F->L at 189: in dbSNP rsrs55702630<li>E->G at 194: in dbSNP rsrs55780547<li>I->T at 196: in dbSNP rsrs55923222<li>Y->C at 206: in dbSNP rsrs56264133<li>Y->H at 206: in dbSNP rsrs56108438<li>R->S at 207: in dbSNP rsrs56340103<li>E->Q at 208: in dbSNP rsrs55818316<li>R->C at 217: in dbSNP rsrs55754218<li>T->M at 223: in dbSNP rsrs56038081</ul>									<li>rs56340103</li><li>rs55923222</li><li>rs55702630</li><li>rs56038081</li><li>rs55818316</li><li>rs56108438</li><li>rs55780547</li><li>rs56264133</li><li>rs55754218</li>	2
P78380	4973	<ul><li>K->N at 167: common polymorphism; myocardial infarction susceptibility; dbSNP:rs11053646</ul>									rs11053646	2
P78381	7355	<ul><li>W->C at 252: in a breast cancer sample; somatic mutation</ul>										2
P78383	10237	<ul><li>R->H at 81: in dbSNP:rs1135034</ul>									rs1135034	2
P78385	3889	<ul><li>R->C at 149: in dbSNP:rs2857663<li>I->M at 279: in dbSNP:rs2852464<li>E->K at 407: in Monilethrix, MIM: 158000<li>H->Y at 493: in dbSNP:rs2857671, MIM: 158000</ul>								Monilethrix [MIM:158000]	<li>rs2857671</li><li>rs2852464</li><li>rs2857663</li>	2
P78386	3891	<ul><li>R->H at 78: in EDPHN: in dbSNP rsrs61630004, MIM: 602032<li>W->L at 155: in dbSNP:rs2852471, MIM: 602032</ul>								Ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]	<li>rs2852471</li><li>rs61630004</li>	2
P78395	23532	<ul><li>W->R at 7: in dbSNP:rs2266988</ul>									rs2266988	2
P78410	11118	<ul><li>R->T at 167: in dbSNP:rs9379861<li>N->D at 181: in dbSNP:rs9358936<li>A->T at 182: in dbSNP:rs12205731<li>R->K at 211: in dbSNP:rs35183513<li>S->N at 307: in dbSNP:rs13216828</ul>									<li>rs35183513</li><li>rs9358936</li><li>rs13216828</li><li>rs12205731</li><li>rs9379861</li>	2
P78413	50805	<ul><li>A->T at 119: in dbSNP:rs2232376</ul>									rs2232376	2
P78417	9446	<ul><li>S->C at 86: in dbSNP:rs11509436<li>A->D at 140: in allele GSTO1*C; dbSNP:rs4925<li>Missing  at 155: in allele GSTO1*B<li>E->K at 208: in dbSNP:rs11509438<li>A->V at 236: in dbSNP:rs11509439</ul>							<li>Q9N1F5</li><li>P78417</li>		<li>rs11509438</li><li>rs11509439</li><li>rs11509436</li><li>rs4925</li>	2
P78423	6376	<ul><li>A->V at 240: in dbSNP:rs35860084</ul>									rs35860084	2
P78424	11281	<ul><li>Q->H at 184: in WT5, MIM: 601583<li>P->L at 191: in dbSNP:rs2074936, MIM: 601583<li>L->M at 492: in dbSNP:rs4992268, MIM: 601583<li>E->K at 631: in dbSNP:rs7804851, MIM: 601583</ul>								Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]	<li>rs2074936</li><li>rs7804851</li><li>rs4992268</li>	2
P78504	182	<ul><li>Missing  at 22-25: in ALGS1<li>A->V at 31: in ALGS1, MIM: 118450<li>G->D at 33: in ALGS1, MIM: 118450<li>G->S at 33: in ALGS1, MIM: 118450<li>G->V at 33: in ALGS1, MIM: 118450<li>L->S at 37: in ALGS1, MIM: 118450<li>I->S at 39: in ALGS1, MIM: 118450<li>L->P at 40: in ALGS1, MIM: 118450<li>V->L at 45: in biliary atresia; extrahepatic, MIM: 118450<li>N->D at 53: in biliary atresia; extrahepatic, MIM: 118450<li>K->M at 65: in biliary atresia; extrahepatic, MIM: 118450<li>F->S at 75: in ALGS1, MIM: 118450<li>C->S at 78: in ALGS1, MIM: 118450<li>L->H at 79: in ALGS1, MIM: 118450<li>C->R at 92: in ALGS1, MIM: 118450<li>C->Y at 92: in ALGS1, MIM: 118450<li>I->N at 120: in ALGS1, MIM: 118450<li>P->S at 123: in ALGS1, MIM: 118450<li>A->T at 127: in ALGS1, MIM: 118450<li>P->R at 129: in ALGS1, MIM: 118450<li>V->I at 146: in dbSNP:rs6040067, MIM: 118450<li>I->T at 152: in ALGS1, MIM: 118450<li>A->P at 155: in ALGS1, MIM: 118450<li>P->L at 163: in ALGS1, MIM: 118450<li>P->R at 163: in ALGS1, MIM: 118450<li>Y->N at 181: in ALGS1, MIM: 118450<li>R->C at 184: in ALGS1, MIM: 118450<li>R->G at 184: in ALGS1, MIM: 118450<li>R->H at 184: in ALGS1, MIM: 118450<li>R->L at 184: in ALGS1, MIM: 118450<li>C->S at 187: in ALGS1, MIM: 118450<li>C->Y at 187: in ALGS1, MIM: 118450<li>R->K at 203: in biliary atresia; extrahepatic, MIM: 118450<li>C->F at 220: in ALGS1, MIM: 118450<li>W->C at 224: in ALGS1, MIM: 118450<li>C->G at 229: in ALGS1, MIM: 118450<li>C->Y at 229: in ALGS1, MIM: 118450<li>C->Y at 234: in deafness; with congenital heart defects and posterior embryotoxon, MIM: 118450<li>R->G at 252: in ALGS1, MIM: 118450<li>G->S at 256: in ALGS1, MIM: 118450<li>P->L at 269: in ALGS1, MIM: 118450<li>C->R at 271: in ALGS1, MIM: 118450<li>G->D at 274: in TOF; temperature sensitive mutation: in dbSNP rsrs28939668, MIM: 187500<li>C->F at 284: in ALGS1, MIM: 118450<li>W->C at 288: in ALGS1, MIM: 118450<li>G->R at 386: in ALGS1, MIM: 118450<li>C->F at 438: in ALGS1, MIM: 118450<li>N->S at 504: in ALGS1, MIM: 118450<li>Y->D at 690: in biliary atresia; extrahepatic, MIM: 118450<li>C->Y at 693: in ALGS1, MIM: 118450<li>C->Y at 714: in ALGS1, MIM: 118450<li>C->S at 731: in ALGS1, MIM: 118450<li>C->R at 740: in ALGS1, MIM: 118450<li>C->R at 753: in ALGS1, MIM: 118450<li>R->K at 818, MIM: 118450<li>P->R at 871: in biliary atresia; extrahepatic; could be a polymorphism: in dbSNP rsrs35761929, MIM: 118450<li>R->Q at 889: in ALGS1, MIM: 118450<li>C->S at 902: in ALGS1, MIM: 118450<li>H->Q at 908: in biliary atresia; extrahepatic, MIM: 118450<li>C->Y at 911: in ALGS1, MIM: 118450<li>S->R at 913: in ALGS1, MIM: 118450<li>L->P at 921: in biliary atresia; extrahepatic, MIM: 118450<li>R->Q at 937: in ALGS1, MIM: 118450<li>VR->G at 1055-1056: in ALGS1, MIM: 118450<li>R->Q at 1213: in biliary atresia; extrahepatic, MIM: 118450</ul>								<li>Alagille syndrome type 1 (ALGS1) [MIM:118450]</li><li>Tetralogy of Fallot (TOF) [MIM:187500]</li>	<li>rs6040067</li><li>rs28939668</li><li>rs35761929</li>	2
P78508	3766	<ul><li>R->C at 271: in dbSNP:rs1130183<li>R->H at 271: in dbSNP:rs3795339</ul>									<li>rs3795339</li><li>rs1130183</li>	2
P78509	5649	<ul><li>T->A at 978: in dbSNP:rs3025962<li>L->V at 997: in dbSNP:rs362691</ul>									<li>rs362691</li><li>rs3025962</li>	2
P78524	6764	<ul><li>K->N at 316: in dbSNP:rs3794153<li>E->D at 399: in dbSNP:rs3812762<li>I->T at 620: in dbSNP:rs17853683<li>S->F at 657: in dbSNP:rs11042047<li>S->G at 774: in dbSNP:rs17853682</ul>									<li>rs17853683</li><li>rs17853682</li><li>rs11042047</li><li>rs3794153</li><li>rs3812762</li>	2
P78527	5591	<ul><li>A->S at 6: in dbSNP:rs8177999<li>K->N at 263: in a lung adenocarcinoma sample; somatic mutation<li>M->I at 333: in dbSNP:rs8178017<li>V->I at 420: in dbSNP rsrs55925466<li>G->S at 500: in a metastatic melanoma sample; somatic mutation<li>T->S at 605: in dbSNP:rs8178033<li>F->L at 649: in dbSNP rsrs55811715<li>I->M at 680: in dbSNP:rs8178040<li>P->S at 695: in dbSNP:rs8178046<li>N->S at 1071: in dbSNP:rs8178070<li>R->H at 1136: in a colorectal adenocarcinoma sample; somatic mutation<li>L->V at 1190: in dbSNP rsrs34598508<li>A->T at 1237<li>L->F at 1279<li>G->V at 1314: in dbSNP:rs8178090<li>R->M at 1447: in a lung squamous cell carcinoma sample; somatic mutation<li>D->V at 1588: in dbSNP:rs8178104<li>Q->H at 1603: in dbSNP:rs8178106<li>A->G at 1619<li>A->V at 1680: in a metastatic melanoma sample; somatic mutation<li>S->P at 2023<li>A->V at 2095: in dbSNP:rs8178147<li>R->Q at 2598<li>K->E at 2702: in dbSNP:rs8178178<li>S->N at 2810: in a metastatic melanoma sample; somatic mutation<li>R->C at 2899: in dbSNP:rs4278157<li>G->A at 2941: in a lung neuroendocrine carcinoma sample; somatic mutation<li>E->D at 3085<li>G->D at 3149: in dbSNP:rs8178208<li>T->S at 3198<li>P->S at 3201: in dbSNP:rs8178216<li>G->E at 3404<li>I->T at 3434: in dbSNP:rs7830743<li>N->S at 3459: in dbSNP:rs8178228<li>L->M at 3562: in dbSNP:rs8178232<li>L->F at 3584<li>P->L at 3702: in dbSNP:rs8178236<li>L->I at 3800<li>P->L at 3836: in dbSNP:rs8178245<li>M->V at 3932<li>G->S at 3936<li>V->M at 3937</ul>									<li>rs8178040</li><li>rs4278157</li><li>rs8178245</li><li>rs8178236</li><li>rs55811715</li><li>rs8178228</li><li>rs55925466</li><li>rs8178216</li><li>rs8178033</li><li>rs8178046</li><li>rs8178232</li><li>rs8178208</li><li>rs8178104</li><li>rs8178106</li><li>rs8178017</li><li>rs8177999</li><li>rs7830743</li><li>rs8178090</li><li>rs8178147</li><li>rs8178070</li><li>rs8178178</li><li>rs34598508</li>	2
P78536	6868	<ul><li>K->E at 162: in dbSNP:rs34431503<li>R->G at 202: in dbSNP:rs2230818</ul>									<li>rs34431503</li><li>rs2230818</li>	2
P78539	8406	<ul><li>Missing at 23<li>P->S at 225: in dbSNP:rs1123773<li>S->F at 413: in dbSNP:rs35318931</ul>									<li>rs1123773</li><li>rs35318931</li>	2
P78540	384	<ul><li>G->R at 240: in dbSNP:rs17104534</ul>									rs17104534	2
P78543	7832	<ul><li>V->M at 153: in dbSNP:rs12039961</ul>									rs12039961	2
P78545	1999	<ul><li>Q->K at 317: in dbSNP:rs1135542</ul>									rs1135542	2
P78549	4913	<ul><li>R->W at 21: in dbSNP:rs3087469<li>R->K at 33: in dbSNP:rs2302172<li>I->T at 176: in dbSNP:rs1805378<li>S->L at 234: in dbSNP:rs3211977<li>D->Y at 239: in dbSNP:rs3087468</ul>									<li>rs3211977</li><li>rs2302172</li><li>rs3087468</li><li>rs1805378</li><li>rs3087469</li>	2
P78556	6364	<ul><li>V->M at 47: in dbSNP:rs1049617</ul>									rs1049617	2
P78559		<ul><li>F->L at 72: in dbSNP:rs2584695<li>A->S at 335: in dbSNP:rs1060935<li>K->T at 336: in dbSNP:rs1060936<li>A->S at 353: in dbSNP:rs1060937<li>A->S at 357: in dbSNP:rs1060938<li>K->Q at 364: in dbSNP:rs2602129<li>K->Q at 485: in dbSNP:rs2584715<li>T->A at 830: in dbSNP:rs3803337<li>N->S at 1078: in dbSNP:rs8034794<li>I->T at 1102: in dbSNP:rs8036179<li>R->H at 1185: in dbSNP:rs3803335<li>D->N at 1245: in dbSNP:rs12912505<li>D->N at 1461: in dbSNP:rs2245715<li>Q->H at 1553: in dbSNP:rs2584717<li>K->N at 1605: in dbSNP:rs2584697<li>W->C at 1650: in dbSNP:rs1060943<li>A->S at 1690: in dbSNP:rs1060946<li>P->A at 1827: in dbSNP:rs2229014<li>A->P at 1881: in dbSNP:rs1060950<li>A->V at 1912: in dbSNP:rs2584718<li>S->R at 1938: in dbSNP:rs2584719<li>S->R at 2056: in dbSNP:rs1060953<li>H->Y at 2214: in dbSNP:rs1060955<li>D->V at 2327: in dbSNP:rs8026745</ul>									<li>rs2584717</li><li>rs2584718</li><li>rs2584719</li><li>rs2584715</li><li>rs8034794</li><li>rs1060938</li><li>rs1060935</li><li>rs1060936</li><li>rs1060946</li><li>rs1060937</li><li>rs8026745</li><li>rs1060955</li><li>rs3803337</li><li>rs8036179</li><li>rs2229014</li><li>rs1060953</li><li>rs3803335</li><li>rs1060943</li><li>rs1060950</li><li>rs12912505</li><li>rs2245715</li><li>rs2584695</li><li>rs2602129</li><li>rs2584697</li>	2
P78562	5251	<ul><li>C->S at 77: in HYP, MIM: 307800<li>F->S at 80: in HYP; sporadic, MIM: 307800<li>C->F at 85: in HYP; sporadic, MIM: 307800<li>C->R at 85: in HYP, MIM: 307800<li>C->Y at 85: in HYP, MIM: 307800<li>L->P at 138: in HYP, MIM: 307800<li>S->P at 141: in HYP; sporadic, MIM: 307800<li>C->F at 142: in HYP, MIM: 307800<li>L->R at 160: in HYP, MIM: 307800<li>R->C at 166: in HYP, MIM: 307800<li>D->G at 237: in HYP; sporadic, MIM: 307800<li>F->S at 252: in HYP, MIM: 307800<li>M->I at 253: in HYP, MIM: 307800<li>Y->F at 317: in HYP, MIM: 307800<li>Missing  at 341: in HYP; sporadic, MIM: 307800<li>W->WN at 444: in HYP, MIM: 307800<li>W->C at 530: in HYP, MIM: 307800<li>P->L at 534: in HYP, MIM: 307800<li>L->P at 555: in HYP, MIM: 307800<li>R->P at 567: in HYP; sporadic, MIM: 307800<li>A->D at 573: in HYP; sporadic, MIM: 307800<li>G->R at 579: in HYP, MIM: 307800<li>G->V at 579: in HYP, MIM: 307800<li>Q->R at 621: in HYP, MIM: 307800<li>R->P at 651: in HYP, MIM: 307800<li>N->K at 680: in HYP; sporadic, MIM: 307800<li>Missing  at 680: in HYP, MIM: 307800<li>C->Y at 693: in HYP; sporadic, MIM: 307800<li>A->T at 720: in HYP, MIM: 307800<li>F->Y at 731: in HYP, MIM: 307800<li>C->S at 733: in HYP; sporadic, MIM: 307800<li>C->W at 746: in HYP; sporadic, MIM: 307800<li>W->R at 749: in HYP, MIM: 307800</ul>							<li>P70669</li><li>P78562</li>	X-linked hypophosphatemic rickets (HYP) [MIM:307800]		2
P79483	3125	<ul><li>R->C at 40: in allele DRB3*0102<li>G->A at 102: in dbSNP:rs17878857<li>V->A at 114: in dbSNP:rs17424145<li>V->M at 236: in dbSNP:rs2230816</ul>									<li>rs17424145</li><li>rs2230816</li><li>rs17878857</li>	2
P79522	80742	<ul><li>G->S at 61: in dbSNP:rs3888778</ul>									rs3888778	2
P80075	6355	<ul><li>A->V at 14: in dbSNP:rs35401229<li>K->Q at 69: in dbSNP:rs1133763</ul>									<li>rs1133763</li><li>rs35401229</li>	2
P80108	2822	<ul><li>L->V at 17: in dbSNP:rs2235501<li>V->I at 30: in dbSNP:rs1126617<li>D->E at 275: in dbSNP:rs17300770<li>I->V at 350: in dbSNP:rs1062496<li>G->S at 396: in dbSNP:rs6924628<li>V->M at 461: in dbSNP:rs1062505<li>M->V at 694: in dbSNP:rs1042303<li>T->I at 698: in dbSNP:rs1772256</ul>									<li>rs1062505</li><li>rs6924628</li><li>rs1062496</li><li>rs1042303</li><li>rs1126617</li><li>rs1772256</li><li>rs2235501</li><li>rs17300770</li>	2
P80192	4293	<ul><li>A->V at 246: in a metastatic melanoma sample; somatic mutation<li>R->C at 467: in a gastric adenocarcinoma sample; somatic mutation<li>R->Q at 497: in dbSNP rsrs56196343<li>Y->C at 646: in dbSNP rsrs34322726</ul>									<li>rs34322726</li><li>rs56196343</li>	2
P80303	4925	<ul><li>Q->E at 338: in dbSNP:rs757081<li>Missing at 402</ul>									rs757081	2
P80365	3291	<ul><li>Missing  at 114-115: in AME; reduces enzyme activity by at least 95%<li>R->H at 147: in dbSNP:rs13306425<li>L->R at 179: in AME; abolishes enzyme activity, MIM: 218030<li>S->F at 180: in AME; reduces enzyme activity, MIM: 218030<li>R->C at 186: in AME, MIM: 218030<li>R->C at 208: in AME; reduces enzyme activity by at least 95%, MIM: 218030<li>R->H at 208: in AME; abolishes enzyme activity: in dbSNP rsrs28934592, MIM: 218030<li>R->C at 213: in AME; reduces enzyme activity by ca. 90%: in dbSNP rsrs28934591, MIM: 218030<li>P->L at 227: in hypertension; decreases affinity for cortisol, MIM: 218030<li>A->V at 237: in AME; reduces enzyme activity, MIM: 218030<li>D->N at 244: in AME; associated with R-250, MIM: 218030<li>LL->PS at 250-251: in AME; abolishes enzyme activity, MIM: 218030<li>L->R at 250: in AME; associated with N-244, MIM: 218030<li>R->C at 279: in AME; decreases enzyme activity by ca. 33%: in dbSNP rsrs28934594, MIM: 218030<li>A->V at 328: in AME; abolishes enzyme activity, MIM: 218030<li>RY->H at 337-338: in AME; abolishes enzyme activity, MIM: 218030<li>R->C at 337: in AME, MIM: 218030</ul>								Apparent mineralocorticoid excess (AME) [MIM:218030]	<li>rs13306425</li><li>rs28934594</li><li>rs28934592</li><li>rs28934591</li>	2
P80370		<ul><li>Missing  at 347: in clone HDLKAAG</ul>										2
P80404	18	<ul><li>Q->R at 56: in dbSNP:rs1731017<li>R->K at 220: in GABA-AT deficiency; 25% reduction in activity, MIM: 137150</ul>							<li>P94427</li><li>P17649</li><li>P50457</li><li>P63504</li><li>P63505</li><li>P80147</li><li>P14010</li><li>P49604</li><li>Q9BGI0</li><li>O13837</li><li>P40829</li><li>P80404</li><li>P61922</li><li>P22256</li><li>P50554</li><li>Q21217</li>	GABA-AT deficiency [MIM:137150]	rs1731017	2
P80723	10409	<ul><li>A->V at 76: in dbSNP:rs3733748</ul>									rs3733748	2
P81133	6492	<ul><li>L->F at 175: in dbSNP:rs438766<li>P->T at 352: in dbSNP:rs3734354<li>A->V at 371: in dbSNP:rs3734355</ul>									<li>rs438766</li><li>rs3734355</li><li>rs3734354</li>	2
P81172	57817	<ul><li>R->G at 59: in HFE2B, MIM: 602390<li>C->R at 70: in HFE2B, MIM: 602390<li>G->D at 71: in HFE2B, MIM: 602390<li>C->Y at 78: in HFE2B, MIM: 602390</ul>								Hemochromatosis type 2B (HFE2B) [MIM:602390]		2
P81408		<ul><li>S->F at 359: in a breast cancer sample; somatic mutation<li>R->H at 550: in dbSNP:rs2072648</ul>									rs2072648	2
P82094	7110	<ul><li>Q->E at 430: in dbSNP:rs35447207<li>C->Y at 448: in dbSNP:rs34428015<li>Q->R at 682: in dbSNP:rs3736422<li>D->H at 798: in dbSNP:rs1532918</ul>									<li>rs1532918</li><li>rs34428015</li><li>rs3736422</li><li>rs35447207</li>	2
P82251	11136	<ul><li>Missing  at 10: in CSNU<li>I->T at 44: in CSNU; type I, MIM: 220100<li>P->L at 52: in CSNU, MIM: 220100<li>G->R at 63: in CSNU, MIM: 220100<li>W->L at 69: in CSNU, MIM: 220100<li>A->V at 70: in CSNU; mild loss of amino acid transport activity, MIM: 220100<li>G->R at 105: in CSNU; type III; frequent mutation; severe loss of amino acid transport activity, MIM: 220100<li>T->M at 123: in CSNU, MIM: 220100<li>A->T at 126: in CSNU, MIM: 220100<li>V->A at 142: in dbSNP:rs12150889, MIM: 220100<li>A->AA at 158: in CSNU, MIM: 220100<li>V->M at 170: in CSNU; type III; frequent mutation; complete loss of amino acid transport activity, MIM: 220100<li>A->T at 182: in CSNU; type III; frequent mutation; mild loss of amino acid transport activity, MIM: 220100<li>I->F at 187: in CSNU, MIM: 220100<li>I->II at 193: in CSNU, MIM: 220100<li>G->R at 195: in CSNU; type III, MIM: 220100<li>L->M at 223: in dbSNP:rs1007160, MIM: 220100<li>A->V at 224: in CSNU; non-classic type I, MIM: 220100<li>W->R at 230: in CSNU, MIM: 220100<li>I->T at 241: in CSNU, MIM: 220100<li>Missing  at 244: in CSNU, MIM: 220100<li>G->R at 259: in CSNU; type III, MIM: 220100<li>P->L at 261: in CSNU; types I and III, MIM: 220100<li>V->M at 330: in CSNU; type III, MIM: 220100<li>A->V at 331: in CSNU; non-classic type I, MIM: 220100<li>R->W at 333: in CSNU; frequent mutation; severe loss of amino acid transport activity, MIM: 220100<li>A->T at 354: in CSNU; type III; severe loss of amino acid transport activity, MIM: 220100<li>S->R at 379: in CSNU, MIM: 220100<li>A->T at 382: in CSNU, MIM: 220100</ul>	amino acid transport	GO:0006865						Non-type I cystinuria (CSNU) [MIM:220100]	<li>rs12150889</li><li>rs1007160</li>	2
P82279	23418	<ul><li>F->V at 144: in LCA8, MIM: 604210<li>A->V at 161: in RP12, MIM: 600105<li>V->M at 162: in PPCRA, MIM: 172870<li>C->F at 195: in RP12, MIM: 600105<li>I->T at 205, MIM: 600105<li>C->W at 250: in RP12, MIM: 600105<li>T->M at 289, MIM: 600105<li>C->Y at 383: in LCA8, MIM: 604210<li>Y->C at 433: in RP12, MIM: 600105<li>C->G at 480: in LCA8, MIM: 604210<li>C->R at 480: in LCA8, MIM: 604210<li>V->E at 578: in RP12, MIM: 600105<li>D->Y at 584: in LCA8, MIM: 604210<li>C->Y at 587: in RP12, MIM: 600105<li>Q->E at 679, MIM: 600105<li>C->Y at 681: in LCA8, MIM: 604210<li>E->Q at 710: in LCA8, MIM: 604210<li>M->T at 741: in LCA8, MIM: 604210<li>T->M at 745: in RP12: in dbSNP rsrs28939720, MIM: 600105<li>Missing  at 749: in RP12 and LCA8, MIM: 600105<li>R->C at 764: in RP12 and LCA8, MIM: 600105<li>R->H at 769, MIM: 600105<li>R->Q at 769, MIM: 600105<li>P->T at 836: in RP12, MIM: 600105<li>D->H at 837: in RP12; located on the same allele as T-1354, MIM: 600105<li>G->R at 846: in RP12, MIM: 600105<li>G->S at 850: in RP12, MIM: 600105<li>I->T at 852: in LCA8, MIM: 604210<li>C->G at 891: in RP12; without preservation of the paraarteriolar retinal pigment epithelium, MIM: 600105<li>N->S at 894: in RP12, MIM: 600105<li>R->Q at 905, MIM: 600105<li>C->Y at 948: in RP12 and LCA8; without preservation of the paraarteriolar retinal pigment epithelium, MIM: 600105<li>G->S at 959: in RP12, MIM: 600105<li>Missing  at 962: in RP12; without preservation of the paraarteriolar retinal pigment epithelium, MIM: 600105<li>N->I at 986: in RP12, MIM: 600105<li>I->T at 989: in LCA8, MIM: 604210<li>S->I at 1025: in LCA8, MIM: 604210<li>M->T at 1041: in RP12, MIM: 600105<li>L->P at 1071: in RP12, MIM: 600105<li>I->R at 1100: in LCA8, MIM: 604210<li>I->T at 1100: in RP12, MIM: 600105<li>G->R at 1103: in LCA8, MIM: 604210<li>L->P at 1107: in LCA8, MIM: 604210<li>L->R at 1107: in LCA8, MIM: 604210<li>C->R at 1181: in RP12, MIM: 600105<li>G->R at 1205: in LCA8, MIM: 604210<li>C->F at 1218: in LCA8, MIM: 604210<li>N->H at 1317: in LCA8, MIM: 604210<li>C->S at 1321: in LCA8; also early onset RP without preservation of the paraarteriolar retinal pigment epithelium, MIM: 604210<li>R->H at 1331, MIM: 604210<li>A->T at 1354: in RP12; located on the same allele as H-837, MIM: 600105<li>R->H at 1383: in RP12, MIM: 600105</ul>							P25443	<li>Retinitis pigmentosa type 12 (RP12) [MIM:600105]</li><li>Leber congenital amaurosis type 8 (LCA8) [MIM:604210]</li><li>Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]</li>	rs28939720	2
P82650	56945	<ul><li>R->H at 170: in COXPD5, MIM: 611719</ul>								Combined oxidative phosphorylation deficiency type 5 (COXPD5) [MIM:611719]		2
P82673	60488	<ul><li>L->I at 6: in dbSNP:rs35475802</ul>									rs35475802	2
P82912	64963	<ul><li>R->W at 10: in dbSNP:rs16941904<li>Q->H at 51: in dbSNP:rs16941907</ul>									<li>rs16941904</li><li>rs16941907</li>	2
P82921	54460	<ul><li>R->C at 50: in dbSNP:rs10480<li>R->Q at 51: in dbSNP:rs4845</ul>									<li>rs4845</li><li>rs10480</li>	2
P82930	65993	<ul><li>L->I at 33: in dbSNP:rs11552431</ul>									rs11552431	2
P82933	64965	<ul><li>S->L at 13: in dbSNP:rs13399067</ul>									rs13399067	2
P82980	83758	<ul><li>D->N at 19: in dbSNP:rs10963<li>E->Q at 70: in dbSNP:rs7969705<li>M->L at 115: in dbSNP:rs2290237</ul>									<li>rs10963</li><li>rs2290237</li><li>rs7969705</li>	2
P82987	57188	<ul><li>H->R at 146: in dbSNP:rs4483821<li>V->L at 290: in dbSNP:rs4144691<li>V->M at 330: in a colorectal cancer sample; somatic mutation<li>R->H at 587: in a colorectal cancer sample; somatic mutation<li>L->V at 661: in dbSNP:rs4842838<li>R->C at 855: in a colorectal cancer sample; somatic mutation<li>R->H at 855: in dbSNP:rs2277848<li>L->F at 869: in dbSNP:rs2277849<li>A->E at 1315: in a colorectal cancer sample; somatic mutation<li>T->A at 1370: in dbSNP:rs17158450<li>M->T at 1558: in dbSNP:rs7175910<li>T->I at 1660: in dbSNP:rs950169<li>R->H at 1679: in dbSNP:rs11857906</ul>									<li>rs11857906</li><li>rs17158450</li><li>rs4144691</li><li>rs4842838</li><li>rs2277849</li><li>rs4483821</li><li>rs950169</li><li>rs2277848</li><li>rs7175910</li>	2
P83111	114294	<ul><li>R->K at 469: in dbSNP:rs2729835</ul>									rs2729835	2
P83436	91949	<ul><li>T->M at 605: in dbSNP:rs16940094</ul>									rs16940094	2
P83859	347148	<ul><li>L->H at 68: in dbSNP:rs12340616</ul>									rs12340616	2
P84022	4088	<ul><li>I->V at 170: in dbSNP:rs35874463<li>P->L at 393: in a colorectal cancer sample; somatic mutation</ul>									rs35874463	2
P84074	3208	<ul><li>E->D at 21: in dbSNP:rs11554958</ul>									rs11554958	2
P84101	10169	<ul><li>D->Y at 40: in dbSNP:rs11269</ul>									rs11269	2
P84996	2778	<ul><li>R->C at 201: in a colorectal cancer sample; somatic mutation: in dbSNP rsrs11554273<li>R->H at 201: in a colorectal cancer sample; somatic mutation<li>P->T at 374: in GNAS hyperfunction, MIM: 139320<li>P->PQPIPTPGRPLT at 375: in GNAS hyperfunction, MIM: 139320<li>L->V at 397: in GNAS hyperfunction, MIM: 139320</ul>							<li>Q5JWF2</li><li>P84996</li><li>P63093</li><li>P63092</li><li>P29797</li><li>P63091</li><li>P16052</li><li>O18979</li><li>P04896</li><li>Q8R4A8</li><li>O95467</li>	GNAS hyperfunction [MIM:139320]	rs11554273	2
P85298	23779	<ul><li>Y->C at 172: in dbSNP:rs16992915<li>G->R at 333: in dbSNP:rs6007344<li>P->L at 415: in dbSNP:rs2071762</ul>									<li>rs6007344</li><li>rs16992915</li><li>rs2071762</li>	2
P98066	7130	<ul><li>Q->R at 144: in dbSNP:rs1046668</ul>									rs1046668	2
P98073	5651	<ul><li>T->I at 65: in dbSNP:rs35987974<li>K->R at 77: in dbSNP:rs2824804<li>Q->E at 134: in dbSNP:rs2824790<li>S->C at 545: in dbSNP:rs8134187<li>E->K at 641: in dbSNP:rs2273204<li>N->H at 660: in dbSNP:rs11088674<li>S->P at 732: in dbSNP:rs2824721<li>Y->C at 828: in dbSNP:rs8130110</ul>									<li>rs8130110</li><li>rs2824721</li><li>rs2273204</li><li>rs2824790</li><li>rs35987974</li><li>rs11088674</li><li>rs8134187</li><li>rs2824804</li>	2
P98082	1601	<ul><li>T->I at 586: in dbSNP:rs700241<li>S->N at 634: in dbSNP:rs3733801</ul>									<li>rs700241</li><li>rs3733801</li>	2
P98088	4586	<ul><li>L->P at 4897: in dbSNP:rs1132436</ul>									rs1132436	2
P98153	9993	<ul><li>V->A at 473: in dbSNP:rs2072123</ul>									rs2072123	2
P98155	7436	<ul><li>V->I at 59: in dbSNP:rs6149<li>P->H at 262: in dbSNP:rs34761707<li>E->K at 379: in dbSNP:rs6146<li>L->I at 464: in dbSNP:rs34753566<li>I->V at 561: in dbSNP:rs35724190<li>R->H at 613: in dbSNP:rs35948251<li>V->I at 791: in dbSNP:rs35334949</ul>									<li>rs35948251</li><li>rs34761707</li><li>rs34753566</li><li>rs6149</li><li>rs35724190</li><li>rs6146</li><li>rs35334949</li>	2
P98160	3339	<ul><li>D->E at 68: in dbSNP:rs1869780<li>V->M at 638: in dbSNP:rs1874792<li>N->S at 765: in dbSNP:rs989994<li>R->Q at 1186: in dbSNP:rs2229481<li>A->V at 1503: in dbSNP:rs897471<li>C->Y at 1532: in SJS1, MIM: 255800<li>R->Q at 1758: in dbSNP:rs2229483, MIM: 255800<li>R->C at 1919: in dbSNP:rs2229474, MIM: 255800<li>V->I at 1967: in dbSNP:rs2229475, MIM: 255800<li>L->H at 2980: in dbSNP:rs2229489, MIM: 255800<li>V->I at 2981: in dbSNP:rs2229490, MIM: 255800<li>S->G at 2995: in dbSNP:rs2229491, MIM: 255800<li>A->T at 3168: in dbSNP:rs2228349, MIM: 255800<li>H->Y at 3256: in dbSNP:rs2291827, MIM: 255800<li>R->W at 3530: in dbSNP:rs2270699, MIM: 255800<li>R->Q at 3632: in dbSNP:rs2229493, MIM: 255800<li>V->I at 3640: in dbSNP:rs17459097, MIM: 255800<li>S->N at 4331: in dbSNP:rs3736360, MIM: 255800</ul>								Schwartz-Jampel syndrome (SJS1) [MIM:255800]	<li>rs1874792</li><li>rs2228349</li><li>rs2229481</li><li>rs2229483</li><li>rs1869780</li><li>rs2229475</li><li>rs2229474</li><li>rs2229489</li><li>rs2291827</li><li>rs2270699</li><li>rs897471</li><li>rs2229491</li><li>rs3736360</li><li>rs17459097</li><li>rs2229493</li><li>rs989994</li><li>rs2229490</li>	2
P98161	5310	<ul><li>L->Q at 13: in ADPKD1, MIM: 173900<li>S->F at 75: in ADPKD1, MIM: 173900<li>A->V at 88, MIM: 173900<li>W->C at 139: in ADPKD1, MIM: 173900<li>R->L at 324: in ADPKD1, MIM: 173900<li>L->S at 845: in ADPKD1, MIM: 173900<li>W->R at 967: in ADPKD1, MIM: 173900<li>G->S at 1166: in ADPKD1, MIM: 173900<li>W->R at 1399, MIM: 173900<li>P->L at 1786: rare polymorphism, MIM: 173900<li>V->E at 1956: in ADPKD1, MIM: 173900<li>FT->L at 1992-1993: in ADPKD1, MIM: 173900<li>R->H at 1995, MIM: 173900<li>Missing  at 2220-2224: in ADPKD1, MIM: 173900<li>T->M at 2250: in ADPKD1; could be a rare polymorphism, MIM: 173900<li>R->W at 2329: in ADPKD1; could be a rare polymorphism, MIM: 173900<li>Y->D at 2336: in ADPKD1, MIM: 173900<li>Y->C at 2379, MIM: 173900<li>R->P at 2392: in ADPKD1, MIM: 173900<li>R->C at 2408: in ADPKD1, MIM: 173900<li>S->F at 2423: in ADPKD1, MIM: 173900<li>G->GG at 2443: in ADPKD1, MIM: 173900<li>P->L at 2471: in ADPKD1, MIM: 173900<li>Q->L at 2519: in ADPKD1; could be a polymorphism, MIM: 173900<li>E->Q at 2548: in dbSNP rsrs28369051, MIM: 173900<li>Missing  at 2579: in ADPKD1; could be a polymorphism, MIM: 173900<li>T->M at 2582: in dbSNP rsrs2432405, MIM: 173900<li>D->N at 2604, MIM: 173900<li>Missing  at 2613: in ADPKD1; could be a polymorphism, MIM: 173900<li>H->R at 2638: in dbSNP rsrs9936785, MIM: 173900<li>T->I at 2649: in ADPKD1; could be a polymorphism, MIM: 173900<li>P->S at 2674, MIM: 173900<li>L->R at 2696: in ADPKD1, MIM: 173900<li>T->M at 2708, MIM: 173900<li>P->T at 2734, MIM: 173900<li>Q->L at 2735, MIM: 173900<li>R->P at 2746: in dbSNP:rs1800569, MIM: 173900<li>A->D at 2752: in ADPKD1, MIM: 173900<li>M->T at 2760: in ADPKD1; dbSNP:rs1800568, MIM: 173900<li>R->P at 2761: in ADPKD1, MIM: 173900<li>L->V at 2763: in ADPKD1, MIM: 173900<li>M->T at 2764: in ADPKD1; dbSNP:rs1800570, MIM: 173900<li>R->C at 2765, MIM: 173900<li>R->RILMR at 2765: in ADPKD1, MIM: 173900<li>V->M at 2768: in ADPKD1; associated with S-2858, MIM: 173900<li>E->K at 2771: in ADPKD1, MIM: 173900<li>V->M at 2782, MIM: 173900<li>R->Q at 2791: in ADPKD1, MIM: 173900<li>G->R at 2814, MIM: 173900<li>L->P at 2816: in ADPKD1, MIM: 173900<li>I->T at 2826: in ADPKD1, MIM: 173900<li>G->S at 2858: in ADPKD1; associated with M-2768, MIM: 173900<li>R->G at 2888, MIM: 173900<li>V->I at 2905, MIM: 173900<li>H->P at 2921: in ADPKD1, MIM: 173900<li>E->D at 2966: in dbSNP rsrs13337123, MIM: 173900<li>D->N at 2972, MIM: 173900<li>Missing  at 2978: in ADPKD1; could be a polymorphism, MIM: 173900<li>R->G at 2985: in ADPKD1, MIM: 173900<li>L->P at 2993: in ADPKD1, MIM: 173900<li>V->L at 3008: in ADPKD1, MIM: 173900<li>Missing  at 3012-3017: in ADPKD1, MIM: 173900<li>Q->R at 3016: in ADPKD1, MIM: 173900<li>R->C at 3039: in ADPKD1, MIM: 173900<li>F->L at 3066, MIM: 173900<li>G->V at 3139, MIM: 173900<li>P->L at 3193, MIM: 173900<li>R->H at 3247: in ADPKD1, MIM: 173900<li>V->I at 3285: in ADPKD1, MIM: 173900<li>H->R at 3311, MIM: 173900<li>V->M at 3375: in ADPKD1, MIM: 173900<li>T->M at 3382: in ADPKD1, MIM: 173900<li>T->M at 3510: in dbSNP rsrs45478794, MIM: 173900<li>L->V at 3511: in ADPKD1; could be a polymorphism, MIM: 173900<li>A->V at 3512: in dbSNP rsrs34197769, MIM: 173900<li>G->R at 3560: in ADPKD1, MIM: 173900<li>S->N at 3562, MIM: 173900<li>E->D at 3632, MIM: 173900<li>M->T at 3678: in ADPKD1, MIM: 173900<li>R->Q at 3719: in ADPKD1, MIM: 173900<li>Missing  at 3748-3752: in ADPKD1, MIM: 173900<li>R->W at 3753: in ADPKD1, MIM: 173900<li>D->N at 3815: in ADPKD1, MIM: 173900<li>L->P at 3852: in ADPKD1, MIM: 173900<li>F->FLLF at 3996: in ADPKD1, MIM: 173900<li>G->D at 4032: in ADPKD1, MIM: 173900<li>I->V at 4045: in dbSNP:rs10960, MIM: 173900<li>V->A at 4058: in dbSNP rsrs3209986, MIM: 173900<li>A->V at 4059: in dbSNP rsrs3209986, MIM: 173900<li>Missing  at 4132: in ADPKD1, MIM: 173900<li>R->G at 4136: in ADPKD1, MIM: 173900<li>R->C at 4154: in ADPKD1, MIM: 173900<li>S->F at 4190, MIM: 173900<li>Q->P at 4225: in ADPKD1, MIM: 173900<li>R->W at 4276: in ADPKD1, MIM: 173900</ul>								Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	<li>rs34197769</li><li>rs1800569</li><li>rs13337123</li><li>rs45478794</li><li>rs2432405</li><li>rs28369051</li><li>rs9936785</li><li>rs3209986</li><li>rs10960</li>	2
P98164	4036	<ul><li>N->S at 83: in dbSNP:rs2229263<li>G->D at 669: in dbSNP:rs34291900<li>H->R at 909: in dbSNP:rs36082715<li>H->Q at 1083: in dbSNP:rs2302691<li>D->A at 1279: in dbSNP:rs17848149<li>A->P at 1287<li>R->K at 2012: in dbSNP:rs4667596<li>I->T at 2065: in dbSNP:rs2228168<li>Y->H at 2522: in DBS, MIM: 222448<li>N->D at 2632: in dbSNP:rs17848169, MIM: 222448<li>A->T at 2872: in dbSNP:rs2228171, MIM: 222448<li>R->M at 3011: in dbSNP:rs11674973, MIM: 222448<li>R->H at 3305: in dbSNP:rs3213760, MIM: 222448<li>K->E at 4094: in dbSNP:rs2075252, MIM: 222448<li>I->L at 4210: in dbSNP:rs4667591, MIM: 222448<li>M->V at 4272: in a colorectal cancer sample; somatic mutation, MIM: 222448</ul>								Donnai-Barrow syndrome (DBS) [MIM:222448]	<li>rs3213760</li><li>rs11674973</li><li>rs34291900</li><li>rs2229263</li><li>rs17848149</li><li>rs2075252</li><li>rs4667591</li><li>rs2228171</li><li>rs4667596</li><li>rs17848169</li><li>rs2228168</li><li>rs36082715</li><li>rs2302691</li>	2
P98168	7789	<ul><li>G->S at 376: in dbSNP:rs1057327</ul>									rs1057327	2
P98169	158586	<ul><li>A->T at 736: in dbSNP:rs1057338<li>N->S at 760: in dbSNP:rs1057340<li>D->N at 764: in dbSNP:rs1057341<li>T->R at 791: in dbSNP:rs1057343</ul>									<li>rs1057338</li><li>rs1057343</li><li>rs1057341</li><li>rs1057340</li>	2
P98170	331	<ul><li>N->S at 107: in dbSNP:rs28382721<li>S->F at 133: in dbSNP:rs28382722<li>D->E at 242: in dbSNP:rs28382723<li>Q->P at 423: in dbSNP:rs5956583</ul>									<li>rs5956583</li><li>rs28382722</li><li>rs28382721</li><li>rs28382723</li>	2
P98171	393	<ul><li>A->V at 104: in dbSNP:rs5987182</ul>									rs5987182	2
P98172	1947	<ul><li>P->R at 27: in CFNS, MIM: 304110<li>P->L at 54: in CFNS, MIM: 304110<li>I->T at 62: in CFNS, MIM: 304110<li>L->S at 98: in CFNS, MIM: 304110<li>T->I at 111: in CFNS, MIM: 304110<li>Q->P at 115: in CFNS, MIM: 304110<li>P->H at 119: in CFNS, MIM: 304110<li>P->S at 119: in CFNS, MIM: 304110<li>P->T at 119: in CFNS, MIM: 304110<li>T->A at 137: in CFNS, MIM: 304110<li>S->F at 138: in CFNS, MIM: 304110<li>G->S at 151: in CFNS: in dbSNP rsrs28936069, MIM: 304110<li>G->V at 151: in CFNS: in dbSNP rsrs28936070, MIM: 304110<li>C->S at 153: in CFNS, MIM: 304110<li>C->Y at 153: in CFNS, MIM: 304110<li>R->H at 154, MIM: 304110<li>T->P at 155: in CFNS, MIM: 304110<li>M->I at 158: in CFNS: in dbSNP rsrs28935170, MIM: 304110<li>M->V at 158: in CFNS: in dbSNP rsrs28936071, MIM: 304110<li>S->R at 182: in CFNS, MIM: 304110<li>V->A at 189: in dbSNP:rs16989105, MIM: 304110</ul>								Craniofrontonasal syndrome (CFNS) [MIM:304110]	<li>rs28936071</li><li>rs28936070</li><li>rs16989105</li><li>rs28935170</li><li>rs28936069</li>	2
P98173	60343	<ul><li>W->C at 213: in dbSNP:rs1050788</ul>									rs1050788	2
P98174	2245	<ul><li>S->I at 205: in AAS, MIM: 305400<li>P->L at 312: in non-syndromal X-linked mental retardation: in dbSNP rsrs28935498, MIM: 305400<li>E->A at 380: in AAS, MIM: 305400<li>R->H at 443: in AAS, MIM: 305400<li>R->H at 522: in AAS, MIM: 305400<li>R->Q at 610: in AAS: in dbSNP rsrs28935497, MIM: 305400</ul>								Aarskog-Scott syndrome (AAS) [MIM:305400]	<li>rs28935497</li><li>rs28935498</li>	2
P98175	8241	<ul><li>R->H at 396: in a colorectal cancer sample; somatic mutation</ul>										2
P98182	7752	<ul><li>T->M at 140: in dbSNP:rs9302870</ul>									rs9302870	2
P98187	11283	<ul><li>Y->F at 125: no effect on U-44069 and 9,11-diazo-prostadienoic acid : in dbSNP rsrs2072600<li>P->Q at 447: in dbSNP:rs2056822</ul>									<li>rs2072600</li><li>rs2056822</li>	2
P98194	27032	<ul><li>P->L at 201: in HHD, MIM: 169600<li>A->T at 304: in HHD, MIM: 169600<li>G->C at 309: in HHD; unable to bind manganese, reduced affinity for calcium, MIM: 169600<li>L->P at 318: in HHD, MIM: 169600<li>L->P at 341: in HHD; unstable protein, MIM: 169600<li>C->Y at 344: in HDD; unstable protein, MIM: 169600<li>C->R at 411: in HDD; unstable protein, MIM: 169600<li>A->T at 450: in dbSNP:rs41434650, MIM: 169600<li>C->F at 490: in HHD, MIM: 169600<li>T->I at 570: in HDD; unstable protein, MIM: 169600<li>I->V at 580: in HDD; unable to undergo conformational change necessary for ion transport, MIM: 169600<li>L->P at 584: in HHD, MIM: 169600<li>M->R at 641: in HHD, MIM: 169600<li>G->R at 645: in HHD, MIM: 169600<li>T->M at 709: in HHD, MIM: 169600<li>D->Y at 742: in HDD; unable to bind calcium or manganese, MIM: 169600<li>P->R at 744: in HHD, MIM: 169600<li>G->R at 789: in HDD; unstable protein, MIM: 169600</ul>	ion transport	GO:0006811						Hailey-Hailey disease (HHD) [MIM:169600]	rs41434650	2
P98196	23250	<ul><li>V->I at 1091: in dbSNP:rs11616795</ul>									rs11616795	2
P99999	54205	<ul><li>G->S at 42: in THC4; increases the pro-apoptotic function by triggering caspase activation more efficiently than wild-type; does not affect the redox function, MIM: 612004<li>K->R at 56: in dbSNP:rs11548795, MIM: 612004<li>M->L at 66: in 10% of the molecules, MIM: 612004</ul>	caspase activation	GO:0006919						Thrombocytopenia type 4 (THC4) [MIM:612004]	rs11548795	2
Q00005	5521	<ul><li>G->V at 36: in dbSNP:rs11547494</ul>									rs11547494	2
Q00013	4354	<ul><li>E->Q at 448: in dbSNP:rs14092</ul>									rs14092	2
Q00056	3201	<ul><li>G->D at 37: in a breast cancer sample; somatic mutation<li>T->P at 70: in dbSNP:rs6944345<li>L->P at 140: in dbSNP:rs10251056<li>L->F at 178: in dbSNP:rs13246088<li>T->P at 251: in dbSNP:rs6976847<li>P->S at 317: in dbSNP:rs17500757</ul>									<li>rs6944345</li><li>rs6976847</li><li>rs10251056</li><li>rs17500757</li><li>rs13246088</li>	2
Q00059	7019	<ul><li>S->T at 12: in dbSNP:rs1937</ul>									rs1937	2
Q00266	4143	<ul><li>S->N at 38: in hypermethioninemia; abolishes enzyme activity, MIM: 250850<li>A->D at 55: in hypermethioninemia, MIM: 250850<li>Q->H at 119: in dbSNP:rs1143693, MIM: 250850<li>R->C at 199: in hypermethioninemia; retains 11% of wild-type activity, MIM: 250850<li>R->C at 264: in hypermethioninemia; has virtually no enzymatic activity, MIM: 250850<li>R->H at 264: in hypermethioninemia; dominant mutation, MIM: 250850<li>L->P at 305: in hypermethioninemia, MIM: 250850<li>I->M at 322: in hypermethioninemia; diminishes but do not completely abolishes enzyme activity; 46% of the level of the wild-type enzyme, MIM: 250850<li>G->R at 336: in hypermethioninemia; retains significant enzymatic activity; 23% of the level of the wild-type enzyme, MIM: 250850<li>E->A at 344: in hypermethioninemia; diminishes but do not completely abolishes enzyme activity; 12% of the level of the wild-type enzyme, MIM: 250850<li>R->Q at 356: in hypermethioninemia, MIM: 250850<li>P->L at 357: in hypermethioninemia, MIM: 250850<li>G->S at 378: in hypermethioninemia, MIM: 250850</ul>								Hypermethioninemia [MIM:250850]	rs1143693	2
Q00325	5250	<ul><li>G->E at 72: in MPCD, MIM: 610773</ul>								Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]		2
Q00341	3069	<ul><li>S->A at 61: in dbSNP:rs11891776<li>N->S at 418: in dbSNP:rs7578199<li>K->N at 568: in a breast cancer sample; somatic mutation<li>D->V at 939: in a breast cancer sample; somatic mutation<li>W->L at 1264: in dbSNP:rs12281</ul>									<li>rs7578199</li><li>rs12281</li><li>rs11891776</li>	2
Q00403	2959	<ul><li>P->S at 19: in dbSNP:rs1804499<li>R->Q at 132: in a colorectal cancer sample; somatic mutation</ul>									rs1804499	2
Q00526	1018	<ul><li>S->N at 106: in a glioblastoma multiforme sample; somatic mutation<li>I->T at 124: in dbSNP rsrs34918446<li>R->H at 214: in dbSNP:rs34670267<li>T->I at 226: in dbSNP:rs2069532<li>M->T at 264: in dbSNP:rs17884251</ul>									<li>rs2069532</li><li>rs34670267</li><li>rs34918446</li><li>rs17884251</li>	2
Q00532	8814	<ul><li>L->P at 66: in dbSNP rsrs11570814<li>Q->E at 274: in dbSNP:rs7161563<li>L->V at 329: in dbSNP:rs9323183<li>K->N at 341: in dbSNP rsrs11570886</ul>									<li>rs11570814</li><li>rs7161563</li><li>rs11570886</li><li>rs9323183</li>	2
Q00534	1021	<ul><li>D->N at 110: in dbSNP:rs35654944<li>P->L at 199: in a metastatic melanoma sample; somatic mutation</ul>									rs35654944	2
Q00535	1020	<ul><li>E->D at 225: in dbSNP rsrs35186917</ul>									rs35186917	2
Q00597	2176	<ul><li>S->F at 26: in dbSNP:rs1800361<li>I->T at 80: in dbSNP:rs4647419<li>G->E at 139: in dbSNP:rs1800362<li>L->F at 190: in dbSNP:rs1800364<li>D->V at 195: in FA; dbSNP:rs1800365, MIM: 227650<li>I->V at 312: in dbSNP:rs1800366, MIM: 227650<li>V->M at 449: in dbSNP:rs1800367, MIM: 227650<li>Q->R at 465: in dbSNP:rs1800368, MIM: 227650<li>L->R at 496: in FA, MIM: 227650<li>L->P at 554: in FA; loss of activity, MIM: 227650</ul>								Fanconi anemia (FA) [MIM:227650]	<li>rs4647419</li><li>rs1800368</li><li>rs1800367</li><li>rs1800366</li><li>rs1800365</li><li>rs1800364</li><li>rs1800362</li><li>rs1800361</li>	2
Q00604	4693	<ul><li>L->R at 13: in ND, MIM: 310600<li>L->P at 16: in ND, MIM: 310600<li>D->E at 23: in dbSNP:rs5952410, MIM: 310600<li>C->R at 39: in ND, MIM: 310600<li>R->K at 41: in EVR2, MIM: 305390<li>H->R at 42: in EVR2, MIM: 305390<li>Y->C at 44: in ND, MIM: 310600<li>K->N at 58: in EVR2, MIM: 305390<li>V->E at 60: in ND; reduction of protein amount in the extracellular matrix, MIM: 310600<li>L->F at 61: in ND, MIM: 310600<li>L->P at 61: in ND, MIM: 310600<li>A->D at 63: in ND, MIM: 310600<li>C->W at 65: in ND, MIM: 310600<li>C->Y at 65: in ND, MIM: 310600<li>C->S at 69: in ND, MIM: 310600<li>R->C at 74: in ND, MIM: 310600<li>S->C at 75: in ND, MIM: 310600<li>S->P at 75: in ND, MIM: 310600<li>R->P at 90: in ND, MIM: 310600<li>HCC->QCGL at 94-96: in ND, MIM: 310600<li>C->W at 96: in ND, MIM: 310600<li>C->Y at 96: in ND, MIM: 310600<li>S->F at 101: in ND, MIM: 310600<li>K->Q at 104: in ND, MIM: 310600<li>A->T at 105: in ND, MIM: 310600<li>C->G at 110: in ND, MIM: 310600<li>Y->C at 120: in EVR2, MIM: 305390<li>Missing  at 121-123: in ND, MIM: 305390<li>R->G at 121: in EVR2, MIM: 305390<li>R->Q at 121: in ND; reduced amount of protein in the extracellular matrix, MIM: 310600<li>R->W at 121: in ND, MIM: 310600<li>I->N at 123: in ND, MIM: 310600<li>L->F at 124: in EVR2; dbSNP:rs28933684, MIM: 305390</ul>					extracellular matrix	GO:0005578,GO:0048196		<li>Norrie disease (ND) [MIM:310600]</li><li>Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]</li>	<li>rs28933684</li><li>rs5952410</li>	2
Q00653	4791	<ul><li>E->K at 14: in dbSNP rsrs45581936<li>G->R at 351: in dbSNP rsrs45580031<li>A->G at 392: in dbSNP:rs11574848<li>G->R at 452: in dbSNP rsrs45471103<li>Missing  at 618-900: in truncated form EB308<li>AGN->SAS at 667-669: in truncated form p80HT<li>Missing  at 670-900: in truncated form p80HT<li>Missing  at 703-900: in truncated form LB40</ul>									<li>rs45580031</li><li>rs45581936</li><li>rs11574848</li><li>rs45471103</li>	2
Q00722	5330	<ul><li>N->I at 324: in dbSNP:rs45628633<li>R->H at 598: in dbSNP:rs8025153<li>P->L at 664: in dbSNP:rs9972332<li>G->R at 712: in dbSNP:rs28395835<li>E->G at 1095: in dbSNP:rs936212</ul>									<li>rs45628633</li><li>rs9972332</li><li>rs936212</li><li>rs28395835</li><li>rs8025153</li>	2
Q00796	6652	<ul><li>L->Q at 239: in dbSNP rsrs55739437</ul>									rs55739437	2
Q00839	3192	<ul><li>F->L at 711: in dbSNP:rs1052660</ul>									rs1052660	2
Q00872	4604	<ul><li>H->Q at 481: in dbSNP:rs3817552</ul>									rs3817552	2
Q00887	5678	<ul><li>I->T at 325: in dbSNP:rs1135905<li>Q->L at 374: in dbSNP:rs2074923<li>H->R at 397: in dbSNP:rs2072285</ul>									<li>rs2072285</li><li>rs2074923</li><li>rs1135905</li>	2
Q00888		<ul><li>V->L at 75: in dbSNP:rs3170216</ul>									rs3170216	2
Q00889	5675	<ul><li>H->D at 85: in dbSNP:rs3198831<li>L->F at 155: in dbSNP:rs1058674<li>M->T at 161: in dbSNP:rs1058679<li>R->L at 165: in dbSNP:rs1058680<li>I->T at 167: in dbSNP:rs1065505<li>L->W at 180: in dbSNP:rs1065507<li>L->M at 181: in dbSNP:rs1065508<li>N->S at 185: in dbSNP:rs1065509<li>R->S at 191: in dbSNP:rs1058688<li>K->E at 196: in dbSNP:rs1065511<li>K->N at 253: in dbSNP:rs1065513<li>L->S at 257: in dbSNP:rs1058710<li>A->T at 258: in dbSNP:rs1065515<li>I->S at 404: in dbSNP:rs1065525</ul>									<li>rs3198831</li><li>rs1058680</li><li>rs1065511</li><li>rs1065515</li><li>rs1065525</li><li>rs1065507</li><li>rs1065508</li><li>rs1065513</li><li>rs1065509</li><li>rs1065505</li><li>rs1058710</li><li>rs1058679</li><li>rs1058688</li><li>rs1058674</li>	2
Q008S8	345930	<ul><li>Q->H at 483: in dbSNP:rs12198781<li>E->K at 527: in dbSNP:rs1529151<li>A->T at 594: in dbSNP:rs11968285</ul>									<li>rs1529151</li><li>rs11968285</li><li>rs12198781</li>	2
Q00973	2583	<ul><li>L->V at 35: in dbSNP:rs774896<li>G->R at 172: in dbSNP:rs810205<li>A->V at 516: in dbSNP:rs17454674</ul>									<li>rs17454674</li><li>rs810205</li><li>rs774896</li>	2
Q00975	774	<ul><li>N->K at 167: in dbSNP:rs4422842<li>E->K at 1436: in dbSNP:rs12377346<li>E->K at 1500: in dbSNP:rs12377346</ul>									<li>rs12377346</li><li>rs4422842</li>	2
Q00G26	440503	<ul><li>A->V at 6: in dbSNP:rs10407239<li>R->C at 255: in dbSNP:rs1610090<li>W->R at 306: in dbSNP:rs1062223</ul>									<li>rs1610090</li><li>rs10407239</li><li>rs1062223</li>	2
Q00LT1	768206	<ul><li>C->Y at 2: in RP36, MIM: 610599<li>R->C at 17, MIM: 610599<li>V->M at 30: in RP36; may be a common polymorphism, MIM: 610599</ul>								Retinitis pigmentosa 36 (RP36) [MIM:610599]		2
Q01082	6711	<ul><li>D->H at 1411: in dbSNP:rs1052790</ul>									rs1052790	2
Q01094	1869	<ul><li>G->S at 200: in dbSNP:rs35385772<li>R->H at 252: in dbSNP:rs3213172<li>V->M at 276: in dbSNP:rs3213173<li>T->N at 311: in dbSNP:rs3213174<li>G->S at 393: in dbSNP:rs3213176</ul>									<li>rs3213173</li><li>rs3213172</li><li>rs35385772</li><li>rs3213174</li><li>rs3213176</li>	2
Q01113	3581	<ul><li>R->K at 63: in dbSNP:rs3093495<li>E->Q at 239: in dbSNP:rs6522<li>Y->C at 288: in dbSNP:rs3093514<li>G->R at 331: in dbSNP:rs2230001<li>R->H at 365: in dbSNP:rs2228650</ul>									<li>rs3093495</li><li>rs2230001</li><li>rs3093514</li><li>rs2228650</li><li>rs6522</li>	2
Q01118	6332	<ul><li>I->V at 407: in dbSNP:rs11888208</ul>									rs11888208	2
Q01151	9308	<ul><li>R->Q at 182: in dbSNP:rs2230193</ul>									rs2230193	2
Q01196	861	<ul><li>R->Q at 139: in FPDMM, MIM: 601399<li>R->Q at 174: in FPDMM, MIM: 601399<li>S->R at 431: in dbSNP:rs1055308, MIM: 601399<li>S->R at 433: in dbSNP:rs1055309, MIM: 601399</ul>								Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]	<li>rs1055309</li><li>rs1055308</li>	2
Q01201	5971	<ul><li>T->M at 396: in dbSNP:rs2230682</ul>									rs2230682	2
Q01344	3568	<ul><li>I->V at 129: in dbSNP:rs2290610<li>V->A at 262: in dbSNP:rs17879690</ul>									<li>rs2290610</li><li>rs17879690</li>	2
Q01362	2206	<ul><li>T->M at 143: in dbSNP:rs35033981<li>N->K at 211: in dbSNP:rs535630<li>E->G at 237: in dbSNP:rs569108</ul>									<li>rs35033981</li><li>rs535630</li><li>rs569108</li>	2
Q01415	2585	<ul><li>I->V at 182: in dbSNP:rs35507772</ul>									rs35507772	2
Q01432	272	<ul><li>R->W at 185: in dbSNP:rs11042836<li>N->K at 310: in AMPDDE, MIM: 102772<li>V->L at 311: in AMPDDE, MIM: 102772<li>A->V at 320: in AMPDDE, MIM: 102772<li>M->T at 324: in AMPDDE, MIM: 102772<li>R->C at 331: in AMPDDE, MIM: 102772<li>R->C at 402: in AMPDDE, MIM: 102772<li>W->R at 450: in AMPDDE, MIM: 102772<li>Y->H at 455: in dbSNP:rs36003153, MIM: 102772<li>R->C at 573: in AMPDDE; enzyme inactive; dbSNP:rs3741040, MIM: 102772<li>P->L at 585: in AMPDDE, MIM: 102772<li>Q->P at 712: in AMPDDE, MIM: 102772</ul>								Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]	<li>rs36003153</li><li>rs11042836</li><li>rs3741040</li>	2
Q01453	5376	<ul><li>H->Q at 12: in DSS, MIM: 145900<li>L->P at 16: in CMT1A and DSS, MIM: 145900<li>L->P at 19: in DSS, MIM: 145900<li>S->F at 22: in HNPP and CMT1A, MIM: 162500<li>T->R at 23: in CMT1E, MIM: 118300<li>Missing  at 25-26: in CMT1A, MIM: 118300<li>W->R at 28: in CMT1E, MIM: 118300<li>V->M at 30: in HNPP, MIM: 162500<li>D->V at 37: in CMT1A; with focally folded myelin sheaths, MIM: 118220<li>V->F at 65: in CMT1A, MIM: 118220<li>A->P at 67: in CMT1E, MIM: 118300<li>A->T at 67: in HNPP, MIM: 162500<li>M->K at 69: in DSS, MIM: 145900<li>L->P at 71: in DSS, MIM: 145900<li>S->L at 72: in DSS and CMT1A, MIM: 145900<li>S->P at 72: in DSS, MIM: 145900<li>S->W at 72: in DSS, MIM: 145900<li>S->I at 76: in DSS, MIM: 145900<li>S->C at 79: in CMT1A, MIM: 118220<li>S->P at 79: in DSS, MIM: 145900<li>L->P at 80: in DSS, MIM: 145900<li>L->R at 80: in DSS, MIM: 145900<li>Missing  at 84: in DSS, MIM: 145900<li>G->R at 93: in CMT1A, MIM: 118220<li>G->E at 100: in DSS, MIM: 145900<li>G->R at 100: in DSS, MIM: 145900<li>L->R at 105: in CMT1A and DSS, MIM: 145900<li>G->V at 107: in CMT1A, MIM: 118220<li>C->R at 109: in DSS, MIM: 145900<li>Missing  at 115-118: in CMT1E, MIM: 145900<li>T->M at 118: in CMT1A, MIM: 118220<li>I->V at 137, MIM: 118220<li>L->R at 147: in CMT1A, MIM: 118220<li>S->R at 149: in DSS, MIM: 145900<li>G->C at 150: in DSS, MIM: 145900<li>G->D at 150: in DSS, MIM: 145900<li>R->G at 157: in dbSNP:rs28936682, MIM: 145900<li>R->W at 157: in DSS: in dbSNP rsrs28936682, MIM: 145900</ul>								<li>Dejerine-Sottas syndrome (DSS) [MIM:145900]</li><li>Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]</li><li>Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]</li><li>Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]</li>	rs28936682	2
Q01459	1486	<ul><li>V->I at 274: in dbSNP:rs15911<li>D->Y at 310: in dbSNP:rs3768249</ul>									<li>rs3768249</li><li>rs15911</li>	2
Q01484	287	<ul><li>G->E at 685: in a breast cancer sample; somatic mutation<li>G->R at 1234: in a colorectal cancer sample; somatic mutation<li>E->G at 1425: in LQT4; loss of function, MIM: 600919<li>T->K at 3620: in a colorectal cancer sample; somatic mutation, MIM: 600919<li>L->I at 3707: in LQT4; loss of function, MIM: 600919<li>T->N at 3711: in LQT4; loss of function, MIM: 600919<li>R->W at 3873: in LQT4; loss of function, MIM: 600919<li>E->K at 3898: in LQT4; loss of function, MIM: 600919</ul>								Long QT syndrome type 4 (LQT4) [MIM:600919]		2
Q01518	10487	<ul><li>G->C at 229: in dbSNP:rs11207440<li>C->G at 236: in dbSNP:rs6665926<li>I->S at 245: in dbSNP:rs6665933<li>C->G at 247: in dbSNP:rs6665936<li>Y->D at 249: in dbSNP:rs6665937<li>S->A at 256: in dbSNP:rs6665944</ul>									<li>rs6665926</li><li>rs6665936</li><li>rs11207440</li><li>rs6665937</li><li>rs6665933</li><li>rs6665944</li>	2
Q01534		<ul><li>E->EVEVVAE at 79<li>P->R at 195<li>I->F at 216</ul>										2
Q01546	51350	<ul><li>L->V at 168: in a breast cancer sample; somatic mutation<li>A->T at 283: in dbSNP:rs11170271<li>T->A at 359: in dbSNP:rs6580904<li>T->M at 629: in dbSNP:rs2280480</ul>									<li>rs11170271</li><li>rs6580904</li><li>rs2280480</li>	2
Q01628	10410	<ul><li>H->Q at 3: in dbSNP:rs1136853</ul>									rs1136853	2
Q01629		<ul><li>T->M at 41: in dbSNP:rs14408</ul>									rs14408	2
Q01638	9173	<ul><li>A->E at 78: in dbSNP:rs1041973<li>A->T at 433: in dbSNP:rs4988956<li>Q->K at 501: in dbSNP:rs10192036<li>Q->R at 501: in dbSNP:rs10204137<li>T->I at 549: in dbSNP:rs10192157<li>L->S at 551: in dbSNP:rs10206753</ul>									<li>rs10206753</li><li>rs10192036</li><li>rs1041973</li><li>rs10192157</li><li>rs10204137</li><li>rs4988956</li>	2
Q01650	8140	<ul><li>N->K at 230: in dbSNP:rs1060250</ul>									rs1060250	2
Q01658	1810	<ul><li>E->D at 171: in dbSNP:rs3088371</ul>									rs3088371	2
Q01668	776	<ul><li>M->MM at 1: in a NIDDM patient</ul>										2
Q01718	4158	<ul><li>P->R at 27: in dbSNP rsrs28926178<li>S->I at 74: in GCCD1; complete loss of activity, MIM: 202200<li>D->N at 103: in GCCD1, MIM: 202200<li>D->N at 107: in GCCD1, MIM: 202200<li>S->R at 120: in GCCD1, MIM: 202200<li>R->C at 128: in GCCD1, MIM: 202200<li>R->W at 137: in GCCD1; partial loss of ACTIVITY, MIM: 202200<li>R->H at 146: in GCCD1, MIM: 202200<li>C->F at 251: in GCCD1, MIM: 202200<li>Y->C at 254: in GCCD1; complete loss of activity: in dbSNP rsrs28940892, MIM: 202200<li>F->C at 278: in dbSNP:rs28926182, MIM: 202200</ul>								Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	<li>rs28940892</li><li>rs28926182</li><li>rs28926178</li>	2
Q01726	4157	<ul><li>I->T at 40: associated with fair hair and light skin; partial loss of function<li>V->L at 60: associated with SHEP2; dbSNP:rs1805005<li>R->Q at 67: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a decreased responses to low concentrations of NDP-MSH stimulation; dbSNP:rs34090186<li>D->E at 84: susceptibility to melanoma; dbSNP:rs1805006<li>G->R at 89: in dbSNP:rs34540312<li>V->M at 92: associated with SHEP2; predominantly in type I skin; shows a moderate and not significant decreased of cAMP production to NDP-MSH stimulation; dbSNP:rs2228479<li>T->M at 95: in dbSNP:rs34158934<li>G->S at 104: in dbSNP:rs2229617<li>I->T at 120: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows decreased responses to low concentrations of NDP-MSH stimulation; dbSNP:rs33932559<li>V->M at 122: associated with fair hair and light skin; partial loss of function<li>Missing  at 147: associated with UV induced sucpetibility to skin damage; virtually unresponsive to NDP-MSH stimulation<li>R->C at 151: associated with SHEP2; binds to alpha-MSH but cannot be stimulated to produce cAMP; dbSNP:rs1805007<li>I->T at 155: in dbSNP:rs1110400<li>V->L at 156: in dbSNP:rs3212365<li>T->I at 157: associated with UV induced sucpetibility to skin damage; shows a dramatically decreased cAMP production to NDP-MSH stimulation<li>P->T at 159: associated with UV induced sucpetibility to skin damage; shows a strong decreased cAMP production to NDP-MSH stimulation<li>R->W at 160: associated with SHEP2; dbSNP:rs1805008<li>R->P at 162<li>R->Q at 163: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation; dbSNP:rs885479<li>A->G at 166: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation; dbSNP:rs35040147<li>A->S at 171: in dbSNP:rs35784916<li>L->M at 192: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a significant decrease of cAMP production when low concentrations of NDP-MSH is administered<li>F->L at 196: in dbSNP:rs3212366<li>D->H at 294: associated with SHEP2; dbSNP:rs1805009</ul>							<li>P68000</li><li>P68001</li><li>Q9YGK2</li><li>Q9YGK4</li><li>P10000</li><li>P22923</li><li>P01189</li><li>P01197</li><li>Q60HE4</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>P61281</li><li>P41589</li><li>P01201</li><li>Q91082</li><li>P61280</li><li>P06298</li><li>P06297</li><li>P11280</li><li>Q00604</li><li>Q9YGK5</li><li>Q2KI78</li><li>P06299</li><li>P11885</li><li>P21252</li>		<li>rs1805006</li><li>rs35784916</li><li>rs1805005</li><li>rs35040147</li><li>rs1805008</li><li>rs1805007</li><li>rs1805009</li><li>rs33932559</li><li>rs3212366</li><li>rs3212365</li><li>rs2229617</li><li>rs2228479</li><li>rs34540312</li><li>rs1110400</li><li>rs34158934</li><li>rs34090186</li><li>rs885479</li>	2
Q01740	2326	<ul><li>H->Q at 97: in dbSNP rsrs56841822<li>R->Q at 223: in dbSNP:rs16864310<li>S->T at 227<li>I->T at 303: in dbSNP:rs28360418<li>I->V at 303: in dbSNP:rs16864314<li>I->V at 322: in dbSNP rsrs28360419<li>F->L at 327: in dbSNP rsrs28360420<li>K->R at 373: in dbSNP rsrs28360421<li>R->H at 474: in dbSNP rsrs28360433</ul>									<li>rs28360420</li><li>rs28360421</li><li>rs28360433</li><li>rs28360418</li><li>rs16864310</li><li>rs28360419</li><li>rs56841822</li><li>rs16864314</li>	2
Q01804	54726	<ul><li>A->G at 194: in dbSNP:rs36225458<li>A->T at 216</ul>									rs36225458	2
Q01831	7508	<ul><li>L->V at 16: in dbSNP rsrs1870134<li>L->F at 48: in dbSNP rsrs3731062<li>K->R at 86: in dbSNP rsrs3731063<li>R->Q at 314: in dbSNP rsrs3731126<li>P->H at 334: in XP-C; severe, MIM: 278720<li>R->H at 492, MIM: 278720<li>V->A at 499, MIM: 278720<li>M->I at 513, MIM: 278720<li>Q->E at 632, MIM: 278720<li>R->H at 671: in dbSNP rsrs3731140, MIM: 278720<li>T->M at 689: in dbSNP rsrs3731152, MIM: 278720<li>V->VV at 697: in XP-C; mild, MIM: 278720<li>K->Q at 928: in dbSNP rsrs3731177, MIM: 278720<li>K->Q at 939: in dbSNP rsrs2228001, MIM: 278720</ul>								Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]	<li>rs3731177</li><li>rs3731126</li><li>rs3731063</li><li>rs3731152</li><li>rs3731140</li><li>rs3731062</li><li>rs1870134</li><li>rs2228001</li>	2
Q01851	5457	<ul><li>Missing at 163</ul>										2
Q01860	5460	<ul><li>L->F at 226: in dbSNP:rs1150767<li>T->A at 322<li>T->I at 351: in dbSNP:rs1061120<li>M->L at 357</ul>									<li>rs1061120</li><li>rs1150767</li>	2
Q01955	1285	<ul><li>G->R at 43: in dbSNP:rs13424243<li>L->P at 141: in dbSNP:rs10178458<li>E->G at 162: in dbSNP:rs6436669<li>G->E at 297: in APSAR, MIM: 203780<li>D->Y at 326: in dbSNP rsrs55703767, MIM: 203780<li>G->R at 407: in APSAR, MIM: 203780<li>R->H at 408: in dbSNP rsrs34505188, MIM: 203780<li>H->R at 451: in dbSNP:rs11677877, MIM: 203780<li>G->D at 532: in APSAR, MIM: 203780<li>P->L at 574: in dbSNP:rs28381984, MIM: 203780<li>G->R at 640: in APSAR, MIM: 203780<li>G->R at 739: in APSAR, MIM: 203780<li>G->R at 853: in APSAR, MIM: 203780<li>G->V at 985: in BFH, MIM: 141200<li>G->E at 1015: in BFH, MIM: 141200<li>G->R at 1167: in APSAR; in isolated microhematuria at heterozygosity, MIM: 203780<li>G->E at 1207: in APSAR; in isolated microhematuria at heterozygosity, MIM: 203780<li>R->Q at 1215: in APSAR; could be a polymorphism, MIM: 203780<li>G->R at 1216: in APSAR, MIM: 203780<li>D->E at 1269: in dbSNP rsrs57611801, MIM: 203780<li>G->S at 1277: in APSAR, MIM: 203780<li>I->T at 1330: in APSAR; could be a polymorphism, MIM: 203780<li>G->E at 1334: in APSAR, MIM: 203780<li>D->E at 1347: in APSAR; could be a polymorphism, MIM: 203780<li>L->P at 1474, MIM: 203780<li>Q->R at 1495, MIM: 203780<li>R->C at 1661: in APSAR, MIM: 203780</ul>								<li>Benign familial hematuria (BFH) [MIM:141200]</li><li>Alport syndrome autosomal recessive (APSAR) [MIM:203780]</li>	<li>rs57611801</li><li>rs34505188</li><li>rs55703767</li><li>rs11677877</li><li>rs13424243</li><li>rs10178458</li><li>rs28381984</li><li>rs6436669</li>	2
Q01959	6531	<ul><li>G->S at 121: in a breast cancer sample; somatic mutation<li>R->Q at 237: in dbSNP:rs6345<li>R->S at 544: in a breast cancer sample; somatic mutation</ul>									rs6345	2
Q01968	4952	<ul><li>R->C at 318: in DD2, MIM: 300555<li>R->P at 337: in Lowe syndrome, MIM: 309000<li>G->E at 357: in Lowe syndrome; could be a rare polymorphism, MIM: 309000<li>Missing  at 367: in Lowe syndrome, MIM: 309000<li>V->G at 372: in Lowe syndrome, MIM: 309000<li>H->Y at 375: in Lowe syndrome, MIM: 309000<li>G->E at 421: in Lowe syndrome, MIM: 309000<li>N->D at 424: in Lowe syndrome, MIM: 309000<li>D->G at 451: in Lowe syndrome, MIM: 309000<li>F->S at 463: in Lowe syndrome, MIM: 309000<li>Missing  at 478-479: in Lowe syndrome, MIM: 309000<li>Y->C at 479: in DD2, MIM: 300555<li>C->Y at 498: in Lowe syndrome, MIM: 309000<li>R->G at 500: in Lowe syndrome, MIM: 309000<li>R->Q at 500: in Lowe syndrome, MIM: 309000<li>V->D at 508: in Lowe syndrome, MIM: 309000<li>Y->C at 513: in Lowe syndrome, MIM: 309000<li>S->R at 522: in Lowe syndrome, MIM: 309000<li>H->Q at 524: in Lowe syndrome, MIM: 309000<li>H->R at 524: in Lowe syndrome, MIM: 309000<li>P->L at 526: in Lowe syndrome, MIM: 309000<li>I->S at 533: in Lowe syndrome, MIM: 309000<li>I->N at 768: in Lowe syndrome; could be a rare polymorphism, MIM: 309000<li>A->P at 797: in Lowe syndrome; could be a rare polymorphism, MIM: 309000</ul>							P52895	<li>Dent disease type 2 (DD2) [MIM:300555]</li><li>Lowe syndrome [MIM:309000]</li>		2
Q01970	5331	<ul><li>R->H at 483: in dbSNP:rs12146487</ul>									rs12146487	2
Q01973	4919	<ul><li>G->E at 144: in a metastatic melanoma sample; somatic mutation<li>F->L at 150: in an ovarian mucinous carcinoma sample; somatic mutation<li>I->V at 301: in a renal clear cell carcinoma sample; somatic mutation<li>T->M at 518: in dbSNP:rs7527017<li>E->D at 562: in a breast cancer sample; somatic mutation<li>R->I at 567: in a colorectal adenocarcinoma sample; somatic mutation<li>G->R at 624: in dbSNP rsrs55832740<li>Y->C at 646: in dbSNP rsrs34109134<li>S->N at 776: in a colorectal adenocarcinoma sample; somatic mutation</ul>									<li>rs7527017</li><li>rs55832740</li><li>rs34109134</li>	2
Q01974	4920	<ul><li>C->Y at 182: in RRS, MIM: 268310<li>R->C at 184: in RRS, MIM: 268310<li>R->W at 189: in RRS, MIM: 268310<li>R->Q at 244: in dbSNP rsrs55737262, MIM: 268310<li>T->A at 245: in dbSNP:rs10820900, MIM: 268310<li>H->D at 349: in dbSNP rsrs55983376, MIM: 268310<li>R->W at 366: in RRS, MIM: 268310<li>G->A at 490: in dbSNP rsrs56197744, MIM: 268310<li>R->Q at 530: in dbSNP rsrs35852786, MIM: 268310<li>V->M at 542: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 268310<li>P->S at 548: in dbSNP:rs35764413, MIM: 268310<li>S->L at 557: in dbSNP rsrs56099091, MIM: 268310<li>N->K at 620: in RRS, MIM: 268310<li>D->N at 644: in dbSNP rsrs55798732, MIM: 268310<li>D->N at 672: in dbSNP rsrs55651110, MIM: 268310<li>G->R at 695: in dbSNP:rs34431454, MIM: 268310<li>R->C at 738: in dbSNP rsrs56231927, MIM: 268310<li>S->L at 762: in dbSNP rsrs34491822, MIM: 268310<li>V->I at 819: in dbSNP:rs10761129, MIM: 268310<li>D->E at 935: in dbSNP rsrs41277835, MIM: 268310</ul>								Recessive Robinow syndrome (RRS) [MIM:268310]	<li>rs55651110</li><li>rs34491822</li><li>rs56099091</li><li>rs10761129</li><li>rs55737262</li><li>rs10820900</li><li>rs55798732</li><li>rs41277835</li><li>rs35852786</li><li>rs56231927</li><li>rs55983376</li><li>rs35764413</li><li>rs34431454</li><li>rs56197744</li>	2
Q01995	6876	<ul><li>N->S at 182: in dbSNP:rs12284316</ul>									rs12284316	2
Q02045	4636	<ul><li>F->S at 88: in dbSNP:rs2228354</ul>									rs2228354	2
Q02078	4205	<ul><li>N->S at 263<li>P->L at 279<li>G->D at 283<li>Missing  at 440-446: loss of nuclear localization; 66% decrease in transcription activation; loss of synergistic activation by MEF2A and GATA1 through a dominant-negative mechanism</ul>	<li>transcription</li><li>localization</li>	<li>GO:0006350</li><li>GO:0051179</li>					<li>Q8LAU9</li><li>Q02078</li><li>P17678</li><li>P15976</li>			2
Q02083	27163	<ul><li>N->K at 107: in dbSNP:rs34751328<li>V->I at 151: in dbSNP:rs4859571<li>F->L at 334: in dbSNP:rs6823734</ul>									<li>rs34751328</li><li>rs6823734</li><li>rs4859571</li>	2
Q02094	6005	<ul><li>S->N at 79: in RHN, MIM: 268150<li>N->D at 242: in dbSNP:rs1058063, MIM: 268150<li>V->I at 270: in RHN; dbSNP:rs16879498, MIM: 268150<li>G->E at 279: in RHN: in dbSNP rsrs28933991, MIM: 268150<li>G->R at 280: in RHN, MIM: 268150<li>G->V at 380: in RHN, MIM: 268150</ul>								Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	<li>rs1058063</li><li>rs28933991</li><li>rs16879498</li>	2
Q02108	2982	<ul><li>V->I at 25: in dbSNP:rs2170646</ul>									rs2170646	2
Q02127	1723	<ul><li>K->Q at 7: in dbSNP:rs3213422</ul>									rs3213422	2
Q02156	5581	<ul><li>E->K at 143: in a colorectal cancer sample; somatic mutation<li>A->V at 333: in dbSNP rsrs55989965<li>P->R at 389: in dbSNP rsrs55767130<li>T->M at 563: in dbSNP:rs34077350<li>A->T at 654: in dbSNP:rs35777875</ul>									<li>rs55767130</li><li>rs55989965</li><li>rs35777875</li><li>rs34077350</li>	2
Q02161	6007	<ul><li>W->C at 16: in dbSNP:rs586178<li>S->C at 103: in a breast cancer sample; somatic mutation<li>L->P at 110: in Tar antigen<li>E->K at 193: in dbSNP:rs17418091<li>T->R at 201: in dbSNP:rs17418098<li>M->I at 218<li>F->V at 223: in RhDVa<li>E->Q at 233: in RhDVa<li>V->M at 238: in RhDVa: in dbSNP rsrs1053360<li>V->L at 245: in RhDVa<li>G->R at 263: in dbSNP:rs3118454<li>V->I at 306: in dbSNP:rs590813<li>Y->C at 311: in dbSNP:rs590787</ul>									<li>rs590813</li><li>rs586178</li><li>rs17418091</li><li>rs17418098</li><li>rs3118454</li><li>rs1053360</li><li>rs590787</li>	2
Q02218	4967	<ul><li>V->I at 1018: in dbSNP:rs2070607</ul>									rs2070607	2
Q02223	608	<ul><li>A->V at 54: in dbSNP:rs11570146<li>I->V at 65: in dbSNP:rs11570147<li>F->V at 75: in dbSNP:rs11570148<li>S->N at 81: in dbSNP:rs373496<li>A->T at 153<li>C->S at 165: in dbSNP:rs11570159</ul>									<li>rs11570159</li><li>rs11570148</li><li>rs373496</li><li>rs11570147</li><li>rs11570146</li>	2
Q02224	1062	<ul><li>F->L at 1535: in dbSNP:rs2615542<li>S->R at 1581: in dbSNP:rs35100664<li>E->D at 1925: in dbSNP:rs2306106<li>T->M at 2090: in dbSNP:rs2243682</ul>									<li>rs2243682</li><li>rs2615542</li><li>rs35100664</li><li>rs2306106</li>	2
Q02241	9493	<ul><li>F->L at 515: in dbSNP:rs17310879</ul>									rs17310879	2
Q02246	6900	<ul><li>A->T at 145: in dbSNP:rs2275697<li>P->L at 366: in dbSNP:rs2229866<li>R->W at 657: in dbSNP:rs2305276<li>V->I at 1024: in dbSNP:rs17416074</ul>									<li>rs2229866</li><li>rs2305276</li><li>rs17416074</li><li>rs2275697</li>	2
Q02252	4329	<ul><li>G->R at 446: in MMSDH deficiency, MIM: 603178</ul>							<li>Q0WM29</li><li>Q07536</li><li>P42412</li><li>Q02253</li><li>Q7KW39</li><li>Q02252</li><li>P52713</li><li>P28810</li><li>Q7QC84</li>	Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]		2
Q02297	3084	<ul><li>R->Q at 38: in dbSNP:rs3924999<li>M->T at 289: in dbSNP:rs10503929<li>M->K at 463</ul>									<li>rs3924999</li><li>rs10503929</li>	2
Q02318	1593	<ul><li>G->E at 145: in CTX, MIM: 213700<li>T->M at 175: in dbSNP:rs2229381, MIM: 213700<li>R->C at 395: in CTX, MIM: 213700<li>R->S at 395: in CTX, MIM: 213700<li>R->Q at 405: in CTX, MIM: 213700<li>R->Q at 474: in CTX, MIM: 213700<li>R->W at 474: in CTX, MIM: 213700<li>R->C at 479: in CTX, MIM: 213700</ul>							<li>P41416</li><li>Q02454</li><li>P45639</li>	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	rs2229381	2
Q02383	6407	<ul><li>Q->K at 43: in dbSNP:rs2233896<li>T->A at 57: in dbSNP:rs2233897<li>S->N at 274: in dbSNP:rs2233901<li>H->Y at 279: in dbSNP:rs2233903<li>G->R at 368: in dbSNP:rs2071650</ul>									<li>rs2071650</li><li>rs2233903</li><li>rs2233901</li><li>rs2233897</li><li>rs2233896</li>	2
Q02386	7596	<ul><li>A->T at 187: in dbSNP:rs1047452<li>R->K at 255: in dbSNP:rs399098<li>T->A at 299: in dbSNP:rs388706<li>P->R at 303: in dbSNP:rs388685<li>R->K at 504: in dbSNP:rs407731</ul>									<li>rs388706</li><li>rs399098</li><li>rs388685</li><li>rs1047452</li><li>rs407731</li>	2
Q02388	1294	<ul><li>T->P at 119: in a breast cancer sample; somatic mutation<li>K->R at 142: in DEB; recessive, MIM: 131750<li>V->F at 547: in dbSNP:rs2229823, MIM: 131750<li>P->L at 595: in DEB; recessive; dbSNP:rs2228561, MIM: 131750<li>R->K at 1120: in dbSNP:rs2228563, MIM: 131750<li>P->L at 1277: in DEB; recessive; dbSNP:rs35761247, MIM: 131750<li>G->R at 1347: in DEB; recessive; localized type; mild, MIM: 131750<li>P->T at 1364: in a breast cancer sample; somatic mutation, MIM: 131750<li>R->W at 1366: in a breast cancer sample; somatic mutation, MIM: 131750<li>G->D at 1519: in TBDN; compound heterozygous with E-2251; clinically silent when heterozygous with a normal allele, MIM: 131705<li>G->E at 1522: in DEB; dominant, MIM: 131750<li>G->R at 1557: in DEB; dominant, MIM: 131750<li>G->R at 1595: in isolated toenail dystrophy, MIM: 131750<li>G->R at 1604: in DEB; recessive, MIM: 131750<li>G->R at 1652: in DEB; recessive; mitis type, MIM: 131750<li>G->E at 1703: in DEB; recessive, MIM: 131750<li>R->W at 1772: in DEB; recessive, MIM: 131750<li>G->R at 1776: in DEB; dominant, MIM: 131750<li>G->R at 1782: in DEB; recessive; mitis type, MIM: 131750<li>G->E at 1791: in DEB and EBP, MIM: 604129<li>G->R at 1812: in DEB; recessive, MIM: 131750<li>G->R at 1815: in isolated toenail dystrophy, MIM: 131750<li>G->W at 1982: in HS-DEB, MIM: 226600<li>G->R at 2003: in DEB; dominant, MIM: 131750<li>G->A at 2006: in DEB; dominant, MIM: 131750<li>G->D at 2006: in DEB; dominant; interferes with collagen VII folding and secretion, MIM: 131750<li>R->C at 2008: in HS-DEB; also in a milder localized type, MIM: 226600<li>R->G at 2008: in HS-DEB, MIM: 226600<li>G->R at 2009: in DEB, MIM: 131750<li>G->E at 2015: in DEB; dominant; interferes with collagen VII folding and secretion, MIM: 131750<li>G->A at 2025: in DEB; recessive; mitis type, MIM: 131750<li>G->A at 2028: in DEB; dominant, MIM: 131750<li>G->R at 2028: in DEB and EBP, MIM: 604129<li>G->S at 2031: in DEB; recessive; severe phenotype, MIM: 131750<li>G->R at 2034: in DEB and EBDSC; dominant; interferes with collagen VII folding and secretion, MIM: 607600<li>G->W at 2034: in DEB; dominant, MIM: 131750<li>G->E at 2037: in P-DEB, MIM: 131750<li>G->D at 2040: in DEB; dominant, MIM: 131750<li>G->S at 2040: in P-DEB, MIM: 131750<li>G->V at 2040: in DEB; dominant, MIM: 131750<li>G->R at 2043: in DEB; dominant, MIM: 131750<li>G->W at 2043: in DEB; dominant; localized type, MIM: 131750<li>G->V at 2046: in DEB; dominant, MIM: 131750<li>G->E at 2049: in HS-DEB, MIM: 226600<li>G->E at 2055: in DEB; dominant, MIM: 131750<li>R->W at 2063: in HS-DEB; also in a mild form, MIM: 226600<li>G->R at 2064: in DEB; dominant, MIM: 131750<li>G->D at 2073: in DEB; recessive; mitis type, MIM: 131750<li>G->D at 2076: in DEB; recessive and dominant forms, MIM: 131750<li>G->E at 2079: in DEB; dominant, MIM: 131750<li>G->R at 2079: in DEB; dominant; associated with squamous cell carcinoma, MIM: 131750<li>G->D at 2132: in DEB; recessive, MIM: 131750<li>G->S at 2192: in DEB; recessive, MIM: 131750<li>G->R at 2207: in DEB; dominant, MIM: 131750<li>G->R at 2242: in DEB and EBP, MIM: 604129<li>G->E at 2251: in TBDN; compound heterozygous with D-1519; leads to isolated toenail dystrophy when heterozygous with a normal allele, MIM: 131705<li>G->V at 2263: in DEB; recessive, MIM: 131750<li>G->R at 2287: in DEB; moderately severe phenotype in combination with R-2316; leads to isolated toenail dystrophy when heterozygous with a normal allele, MIM: 131750<li>G->R at 2316: in DEB; moderately severe phenotype in combination with R-2287, MIM: 131750<li>G->R at 2348: in DEB; mild form, MIM: 131750<li>G->R at 2351: in DEB; mitis type; dbSNP:rs1800013, MIM: 131750<li>G->S at 2366: in DEB; recessive; mitis type, MIM: 131750<li>G->S at 2369: in DEB and EBP, MIM: 604129<li>P->L at 2429: in dbSNP:rs2229822, MIM: 604129<li>G->R at 2569: in DEB; recessive; severe and mitis type, MIM: 131750<li>G->R at 2575: in HS-DEB; also in a mild form, MIM: 226600<li>G->C at 2623: in PR-DEB; dominant, MIM: 131850<li>G->R at 2653: in DEB; recessive; mitis type, MIM: 131750<li>G->V at 2671: in DEB; recessive, MIM: 131750<li>G->D at 2674: in DEB; recessive, MIM: 131750<li>G->R at 2674: in DEB; recessive; mitis type, MIM: 131750<li>G->D at 2713: in DEB; dominant, MIM: 131750<li>G->R at 2713: in DEB and EBP, MIM: 604129<li>G->A at 2740: in DEB; recessive, MIM: 131750<li>G->R at 2749: in HS-DEB; also in a mild form, MIM: 226600<li>G->S at 2775: in DEB; recessive; mitis type, MIM: 131750<li>R->W at 2791: in DEB; dominant, MIM: 131750<li>M->K at 2798: in HS-DEB; also in a mild form; the anchoring fibrils may be absent, MIM: 226600</ul>	secretion	GO:0046903			collagen	GO:0005581	<li>P16279</li><li>Q60490</li><li>P43084</li><li>Q15125</li>	<li>Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]</li><li>Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]</li><li>Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]</li><li>Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]</li><li>Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]</li><li>Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]</li><li>Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:607600]</li>	<li>rs35761247</li><li>rs2229823</li><li>rs2229822</li><li>rs2228563</li><li>rs1800013</li><li>rs2228561</li>	2
Q02410	320	<ul><li>S->A at 184: in dbSNP:rs34788368</ul>									rs34788368	2
Q02413	1828	<ul><li>N->T at 493: in dbSNP:rs8091003<li>T->N at 498: in dbSNP:rs8091117<li>Y->F at 841: in dbSNP:rs3752095</ul>									<li>rs8091117</li><li>rs3752095</li><li>rs8091003</li>	2
Q02446	6671	<ul><li>Q->K at 197: in dbSNP:rs1042848</ul>									rs1042848	2
Q02447	6670	<ul><li>T->A at 164: in dbSNP:rs1047640</ul>									rs1047640	2
Q02487	1824	<ul><li>N->S at 11: in dbSNP:rs868333<li>I->V at 776: in dbSNP:rs1893963</ul>									<li>rs868333</li><li>rs1893963</li>	2
Q02505		<ul><li>A->V at 2338<li>H->N at 2517<li>H->Y at 2517: polymorphism; may be associated with Crohn disease</ul>										2
Q02535	3399	<ul><li>A->T at 105: in dbSNP:rs11574<li>S->A at 111: in dbSNP:rs11542317</ul>									<li>rs11574</li><li>rs11542317</li>	2
Q02539	3024	<ul><li>T->I at 99: in dbSNP:rs417751<li>S->F at 115: in dbSNP:rs34541321<li>K->R at 140: in dbSNP:rs16891235</ul>									<li>rs417751</li><li>rs34541321</li><li>rs16891235</li>	2
Q02548	5079	<ul><li>A->T at 322: in dbSNP:rs34810717</ul>									rs34810717	2
Q02556	3394	<ul><li>R->K at 81: in a breast cancer sample; somatic mutation<li>A->T at 197: in a breast cancer sample; somatic mutation</ul>										2
Q02641	782	<ul><li>P->L at 339: in a colorectal cancer sample; somatic mutation</ul>										2
Q02643	2692	<ul><li>A->T at 45: in a colorectal cancer sample; somatic mutation<li>A->T at 57: in dbSNP:rs4988496<li>E->D at 121: in dbSNP:rs4988498<li>L->H at 144: in IGHD IB, MIM: 262400<li>A->V at 176: in IGHD IB; reduced cAMP response to GHRH, MIM: 262400<li>A->E at 222: in IGHD IB, MIM: 262400<li>V->I at 225: in dbSNP:rs28371560, MIM: 262400<li>F->C at 242: in IGHD IB, MIM: 262400<li>K->E at 329: in IGHD IB, MIM: 262400<li>M->T at 422: in dbSNP:rs2228078, MIM: 262400</ul>							<li>P09916</li><li>P07217</li><li>P41534</li><li>P48144</li><li>Q09169</li><li>P01287</li><li>P63292</li><li>P63293</li><li>P41585</li><li>P01286</li><li>P16043</li><li>Q60549</li><li>P42692</li><li>P01880</li>	Isolated growth hormone deficiency type IB (IGHD IB) [MIM:262400]	<li>rs2228078</li><li>rs28371560</li><li>rs4988496</li><li>rs4988498</li>	2
Q02742	2650	<ul><li>I->V at 152: in dbSNP:rs2282683<li>S->C at 158: in dbSNP:rs11546569</ul>									<li>rs11546569</li><li>rs2282683</li>	2
Q02750	5604	<ul><li>F->S at 53: in CFC syndrome, MIM: 115150<li>Y->C at 130: in CFC syndrome, MIM: 115150</ul>								Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]		2
Q02763		<ul><li>K->N at 117: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation<li>I->T at 148: in dbSNP:rs35969327<li>A->V at 226: in dbSNP:rs35814893<li>Q->P at 346: in dbSNP:rs682632<li>T->I at 391: in dbSNP:rs34032300<li>V->I at 486: in dbSNP:rs1334811<li>V->L at 600: in dbSNP:rs35030851<li>L->F at 634: in dbSNP:rs35378598<li>V->I at 676: in dbSNP:rs56367117<li>A->T at 724: in dbSNP:rs4631561<li>R->W at 849: in VMCM; activating effect, MIM: 600195<li>P->A at 883: in an ovarian serous carcinoma sample; somatic mutation, MIM: 600195<li>Y->S at 897: in VMCM; activating effect, MIM: 600195<li>A->V at 1124: in a renal clear cell carcinoma sample; somatic mutation, MIM: 600195</ul>								Dominantly inherited venous malformations (VMCM) [MIM:600195]	<li>rs35378598</li><li>rs1334811</li><li>rs34032300</li><li>rs4631561</li><li>rs56367117</li><li>rs35814893</li><li>rs35030851</li><li>rs682632</li><li>rs35969327</li>	2
Q02779	4294	<ul><li>G->E at 107: in a metastatic melanoma sample; somatic mutation<li>P->Q at 168: in dbSNP:rs36102209</ul>									rs36102209	2
Q02790	2288	<ul><li>T->P at 436: in dbSNP:rs1042228</ul>									rs1042228	2
Q02809	5351	<ul><li>E->D at 67: in dbSNP:rs7551068<li>A->T at 84: in dbSNP:rs34878020<li>A->T at 99: in dbSNP:rs7551175<li>A->S at 120: in dbSNP:rs2273285<li>Q->H at 123: in a breast cancer sample; somatic mutation<li>Missing  at 367-371: in EDS6<li>W->G at 446: in EDS6, MIM: 225400<li>Missing  at 532: in EDS6, MIM: 225400<li>W->C at 612: in EDS6, MIM: 225400<li>A->T at 667: in EDS6, MIM: 225400<li>G->R at 678: in EDS6, MIM: 225400<li>H->R at 706: in EDS6, MIM: 225400</ul>								Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	<li>rs7551068</li><li>rs7551175</li><li>rs2273285</li><li>rs34878020</li>	2
Q02818	4924	<ul><li>LP->S at 13-14<li>R->Q at 399</ul>										2
Q02833	8045	<ul><li>P->A at 89: in dbSNP:rs2242183<li>R->Q at 156: in dbSNP:rs2242182</ul>									<li>rs2242183</li><li>rs2242182</li>	2
Q02846	3000	<ul><li>A->S at 52: in LCA1; could be a rare polymorphism, MIM: 204000<li>C->Y at 105: in LCA1; does not affect basal activity; reduces GCAP-1 induced activity, MIM: 204000<li>L->P at 325: in LCA1; does not affect basal activity; reduces GCAP-1 induced activity, MIM: 204000<li>A->V at 328: in dbSNP rsrs56280231, MIM: 204000<li>R->S at 331: in dbSNP:rs34596269, MIM: 204000<li>A->S at 362: in LCA1, MIM: 204000<li>G->D at 431: in a metastatic melanoma sample; somatic mutation, MIM: 204000<li>V->M at 507, MIM: 204000<li>F->S at 565: in LCA1; loss of activity, MIM: 204000<li>I->V at 573: in LCA1, MIM: 204000<li>R->W at 602: in dbSNP:rs34331388, MIM: 204000<li>A->E at 693: in dbSNP rsrs35146471, MIM: 204000<li>P->S at 701: in LCA1; dbSNP:rs34598902, MIM: 204000<li>R->W at 722: in dbSNP:rs34331388, MIM: 204000<li>L->H at 782: rare polymorphism; dbSNP:rs8069344, MIM: 204000<li>ERT->DCM at 837-839: in CORD6, MIM: 204000<li>E->D at 837: in CORD6: in dbSNP rsrs28933695, MIM: 601777<li>R->C at 838: in CORD6, MIM: 601777<li>R->H at 838: in CORD6, MIM: 601777<li>P->S at 858: in LCA1; severely impairs basal and GCAP-1 induced activity, MIM: 204000<li>L->P at 954: in LCA1; severely impairs basal and GCAP-1 induced activity, MIM: 204000</ul>							<li>Q02846</li><li>Q42883</li><li>O73761</li><li>P43080</li><li>P43081</li><li>P79880</li><li>P46065</li>	<li>Cone-rod dystrophy type 6 (CORD6) [MIM:601777]</li><li>Leber congenital amaurosis type 1 (LCA1) [MIM:204000]</li>	<li>rs28933695</li><li>rs8069344</li><li>rs56280231</li><li>rs35146471</li><li>rs34596269</li><li>rs34598902</li><li>rs34331388</li>	2
Q02878	6128	<ul><li>K->Q at 100: in a colorectal cancer sample; somatic mutation<li>H->R at 227: in dbSNP:rs17851813<li>K->E at 237: in dbSNP:rs16942044</ul>									<li>rs16942044</li><li>rs17851813</li>	2
Q02928	1579	<ul><li>N->S at 226: in dbSNP:rs12759923<li>S->G at 353<li>F->S at 434: associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity; dbSNP:rs1126742<li>NGIHLRLRRLPNPCE at 500-519: in CYP4A11V</ul>									<li>rs1126742</li><li>rs12759923</li>	2
Q02952	9590	<ul><li>E->K at 117: in dbSNP:rs10872670<li>K->Q at 216: in dbSNP:rs3734799<li>E->K at 240: in a colorectal cancer sample; somatic mutation<li>E->G at 920: in dbSNP:rs13212161<li>V->I at 1096: in dbSNP:rs3734797<li>R->L at 1296: in dbSNP:rs9478198<li>E->K at 1355: in dbSNP:rs12201388<li>E->D at 1600: in dbSNP:rs3823310<li>E->D at 1689: in dbSNP:rs3734795</ul>									<li>rs3734795</li><li>rs9478198</li><li>rs10872670</li><li>rs3734797</li><li>rs13212161</li><li>rs3823310</li><li>rs12201388</li><li>rs3734799</li>	2
Q02962	5076	<ul><li>Missing  at 39-40: in OMN; with bilateral coloboma<li>T->TET at 75: in RCS<li>G->S at 76: in RCS, MIM: 120330<li>A->V at 334, MIM: 120330</ul>								Renal-coloboma syndrome (RCS) [MIM:120330]		2
Q02985	10878	<ul><li>H->Y at 71: in dbSNP:rs17575274</ul>									rs17575274	2
Q03001	667	<ul><li>K->N at 1319: in dbSNP:rs35014998</ul>									rs35014998	2
Q03013	2948	<ul><li>S->P at 2: in dbSNP:rs3211190<li>A->V at 160: in dbSNP:rs17838158<li>L->V at 208: in dbSNP:rs2229052<li>Y->F at 209: in dbSNP:rs2229053<li>R->K at 211: in dbSNP:rs2229054<li>V->M at 212: in dbSNP:rs1051113</ul>									<li>rs1051113</li><li>rs3211190</li><li>rs2229054</li><li>rs2229053</li><li>rs2229052</li><li>rs17838158</li>	2
Q03113	2768	<ul><li>F->L at 242: in dbSNP:rs45606633<li>Y->H at 330: in dbSNP:rs45583847</ul>									<li>rs45583847</li><li>rs45606633</li>	2
Q03135	857	<ul><li>P->L at 132: in breast cancer; seems to form misfolded oligomers that are retained within the Golgi complex and are not targeted to caveolae or the plasma membrane</ul>					<li>Golgi complex</li><li>plasma membrane</li><li>caveolae</li>	<li>GO:0005794</li><li>GO:0005886</li><li>GO:0005901</li>				2
Q03154	95	<ul><li>N->S at 179: in dbSNP:rs887540<li>R->W at 197: in ACY1D, MIM: 609924<li>E->D at 233: in ACY1D, MIM: 609924<li>R->C at 353: in ACY1D, MIM: 609924<li>E->D at 381: in a breast cancer sample; somatic mutation, MIM: 609924<li>R->C at 386: in dbSNP:rs2229152, MIM: 609924<li>R->H at 393: in ACY1D, MIM: 609924</ul>								Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	<li>rs2229152</li><li>rs887540</li>	2
Q03164	4297	<ul><li>A->G at 30: in dbSNP:rs9332745<li>A->V at 53: in dbSNP:rs9332747<li>E->K at 502: in dbSNP:rs9332772<li>Q->P at 1975: in dbSNP:rs693598<li>S->T at 2319: in dbSNP:rs9332837<li>P->R at 2354: in dbSNP:rs9332838<li>Q->R at 2387: in dbSNP:rs9332839<li>V->I at 3714: in dbSNP:rs9332859<li>S->A at 3773: in dbSNP:rs9332861</ul>									<li>rs9332859</li><li>rs9332839</li><li>rs9332747</li><li>rs9332838</li><li>rs9332837</li><li>rs9332745</li><li>rs9332861</li><li>rs9332772</li><li>rs693598</li>	2
Q03167	7049	<ul><li>S->N at 14: in dbSNP rsrs17884205<li>S->F at 15: in dbSNP:rs1805110<li>W->L at 163: in dbSNP rsrs17885124<li>N->NA at 358<li>A->T at 634: in dbSNP rsrs17882578<li>G->R at 764: in dbSNP rsrs17882828</ul>									<li>rs17882828</li><li>rs1805110</li><li>rs17884205</li><li>rs17885124</li><li>rs17882578</li>	2
Q03169	7127	<ul><li>A->AA at 110<li>Q->E at 282: in dbSNP:rs1132339<li>T->I at 565: in dbSNP:rs2229727<li>T->M at 580: in dbSNP:rs2234146</ul>									<li>rs2229727</li><li>rs2234146</li><li>rs1132339</li>	2
Q03252	84823	<ul><li>R->Q at 215: in APL: in dbSNP rsrs61726481, MIM: 608709<li>R->W at 216: in a colorectal cancer sample; somatic mutation, MIM: 608709<li>A->T at 407: in APL: in dbSNP rsrs57521499, MIM: 608709</ul>								Partial acquired lipodystrophy (APL) [MIM:608709]	<li>rs61726481</li><li>rs57521499</li>	2
Q03393	5805	<ul><li>R->C at 16: in HPA; severe decrease in activity; diminishes phosphorylation by PKG, MIM: 261640<li>R->G at 25: in HPA; severe form, MIM: 261640<li>R->Q at 25: in HPA; abolishes activity; no effect on phosphorylation by PKG, MIM: 261640<li>E->G at 35: in HPA, MIM: 261640<li>N->K at 36: in HPA, MIM: 261640<li>N->D at 47: in HPA; transient; total loss of activity, MIM: 261640<li>N->S at 52: in HPA; severe form; common in Chinese population, MIM: 261640<li>V->M at 56: in HPA; mild form, MIM: 261640<li>Missing  at 57: in HPA, MIM: 261640<li>T->M at 67: in HPA, MIM: 261640<li>V->D at 70: in HPA, MIM: 261640<li>P->L at 87: in HPA, MIM: 261640<li>P->S at 87: in HPA; severe form; common in Chinese population, MIM: 261640<li>D->N at 96: in HPA; severe form, MIM: 261640<li>F->V at 100: in HPA, MIM: 261640<li>T->M at 106: in HPA, MIM: 261640<li>I->V at 114: in HPA, MIM: 261640<li>D->G at 116: in HPA; mild form, MIM: 261640<li>K->E at 129: in HPA, MIM: 261640<li>D->V at 136: in HPA, MIM: 261640</ul>	phosphorylation	GO:0016310	PKG	GO:0004692			<li>O82030</li><li>Q9FEW2</li><li>Q9Y251</li><li>Q90YK5</li>	Hyperphenylalaninemia (HPA) [MIM:261640]		2
Q03395	6094	<ul><li>R->H at 16<li>P->T at 60<li>G->D at 75<li>T->M at 108<li>G->A at 118: in dbSNP:rs1799959<li>R->H at 229<li>R->Q at 242<li>A->T at 265<li>M->T at 271</ul>									rs1799959	2
Q03403	7032	<ul><li>R->W at 3: in dbSNP:rs7277409</ul>									rs7277409	2
Q03405	5329	<ul><li>E->G at 55: in dbSNP:rs4251813<li>T->A at 86: in dbSNP:rs399145<li>R->Q at 105: in dbSNP:rs4251878<li>K->R at 220: in dbSNP:rs2302524<li>N->K at 281: in dbSNP:rs4251921<li>D->A at 297: in dbSNP:rs16976608<li>L->P at 317: in dbSNP:rs4760</ul>									<li>rs4251878</li><li>rs4760</li><li>rs2302524</li><li>rs399145</li><li>rs16976608</li><li>rs4251921</li><li>rs4251813</li>	2
Q03426	4598	<ul><li>H->N at 20: in HIDS: in dbSNP rsrs11544299, MIM: 260920<li>H->P at 20: in HIDS and mevalonic aciduria, MIM: 610377<li>H->Q at 20: in HIDS, MIM: 260920<li>L->P at 39: in HIDS, MIM: 260920<li>S->N at 52: in dbSNP:rs7957619, MIM: 260920<li>V->I at 132: in HIDS, MIM: 260920<li>S->L at 135: in HIDS, MIM: 260920<li>A->T at 148: in HIDS, MIM: 260920<li>S->L at 150: in HIDS, MIM: 260920<li>P->L at 167: in HIDS, MIM: 260920<li>G->R at 171: in HIDS, MIM: 260920<li>G->R at 202: in HIDS, MIM: 260920<li>G->E at 211: in HIDS, MIM: 260920<li>R->Q at 215: in HIDS, MIM: 260920<li>T->I at 243: in mevalonic aciduria, MIM: 610377<li>V->I at 250: in HIDS, MIM: 260920<li>L->F at 264: in mevalonic aciduria, MIM: 610377<li>L->P at 265: in mevalonic aciduria, MIM: 610377<li>L->R at 265: in HIDS, MIM: 260920<li>I->T at 268: in HIDS and mevalonic aciduria, MIM: 610377<li>N->T at 301: in mevalonic aciduria; diminished activity: in dbSNP rsrs28934896, MIM: 610377<li>G->S at 309: in HIDS, MIM: 260920<li>V->M at 310: in mevalonic aciduria and HIDS, MIM: 610377<li>G->R at 326: in HIDS, MIM: 260920<li>A->T at 334: in mevalonic aciduria, MIM: 610377<li>G->S at 335: in dbSNP:rs11614976, MIM: 610377<li>T->M at 356, MIM: 610377<li>G->V at 376: in HIDS, MIM: 260920<li>V->I at 377: in HIDS; most frequent mutation: in dbSNP rsrs28934897, MIM: 260920</ul>								<li>Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]</li><li>Mevalonic aciduria [MIM:610377]</li>	<li>rs11614976</li><li>rs28934897</li><li>rs28934896</li><li>rs7957619</li><li>rs11544299</li>	2
Q03431	5745	<ul><li>P->L at 132: in BOCD, MIM: 215045<li>R->C at 150: in enchondromatosis; Ollier type; may be specific to the Canadian population; unclear pathogenicity, MIM: 166000<li>H->R at 223: in JMC; constitutively activated, MIM: 156400<li>T->P at 410: in JMC; constitutively activated, MIM: 156400<li>T->R at 410: in JMC; leads to agonist-independent cAMP formation which is less pronounced than that observed with the Pro-410 mutant, MIM: 156400<li>I->R at 458: in JMC, MIM: 156400</ul>								<li>Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]</li><li>Enchondromatosis [MIM:166000]</li><li>Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]</li>		2
Q03468	2074	<ul><li>R->W at 134<li>K->T at 255<li>G->D at 399: in dbSNP:rs2228528<li>D->A at 425: in dbSNP:rs4253046<li>G->D at 446: in dbSNP:rs4253047<li>P->A at 591: in a colorectal cancer sample; somatic mutation<li>R->L at 652: in a colorectal cancer sample; somatic mutation<li>R->W at 670: in CSB, MIM: 133540<li>W->R at 851: in CSB, MIM: 133540<li>T->M at 942: in dbSNP:rs2228525, MIM: 133540<li>V->G at 957: in CSB, MIM: 133540<li>Y->C at 1002: in dbSNP:rs4253206, MIM: 133540<li>R->T at 1038: in a breast cancer sample; somatic mutation, MIM: 133540<li>P->L at 1042: in CSB, MIM: 133540<li>P->R at 1095: in dbSNP:rs4253208, MIM: 133540<li>M->V at 1097: in dbSNP:rs2228526, MIM: 133540<li>E->Q at 1119: in a breast cancer sample; somatic mutation, MIM: 133540<li>E->V at 1119: in a breast cancer sample; somatic mutation, MIM: 133540<li>R->G at 1213: in dbSNP:rs2228527, MIM: 133540<li>T->I at 1220: in dbSNP:rs34704611, MIM: 133540<li>R->P at 1230: in dbSNP:rs4253211, MIM: 133540<li>V->L at 1308: in dbSNP:rs2229761, MIM: 133540<li>G->V at 1322: in dbSNP:rs4253219, MIM: 133540<li>D->E at 1355: in dbSNP:rs34917815, MIM: 133540<li>G->R at 1372: in dbSNP:rs4253227, MIM: 133540<li>G->R at 1382: in dbSNP:rs4253228, MIM: 133540<li>G->R at 1410: in dbSNP:rs4253229, MIM: 133540<li>Q->R at 1413: in dbSNP:rs2228529, MIM: 133540<li>T->I at 1441: in dbSNP:rs4253230, MIM: 133540</ul>							Q03468	Cockayne syndrome type B (CSB) [MIM:133540]	<li>rs4253229</li><li>rs4253230</li><li>rs4253206</li><li>rs4253219</li><li>rs2229761</li><li>rs4253208</li><li>rs4253227</li><li>rs4253228</li><li>rs4253047</li><li>rs2228525</li><li>rs2228526</li><li>rs4253046</li><li>rs2228527</li><li>rs4253211</li><li>rs2228528</li><li>rs2228529</li><li>rs34704611</li><li>rs34917815</li>	2
Q03518	6890	<ul><li>P->S at 67<li>G->R at 77: in dbSNP rsrs57640466<li>L->V at 170: in dbSNP:rs2228108<li>S->F at 346: in dbSNP:rs2228111<li>I->V at 393: in allele TAP1*0201, allele TAP1*0301, allele TAP1*0401 and allele TAP1*x; dbSNP:rs1057141<li>A->V at 430: in allele TAP1*x; dbSNP:rs2127679<li>G->C at 479: in dbSNP:rs2228110<li>V->L at 518: in allele TAP1*0401: in dbSNP rsrs41550019<li>V->I at 578: in allele TAP1*x: in dbSNP rsrs41561219<li>D->G at 697: in allele TAP1*0201, allele TAP1*0401 and allele TAP1*x; dbSNP:rs1135216<li>R->Q at 708: in allele TAP1*0401; dbSNP:rs1057149<li>R->Q at 719: in a lung cancer cell line deficient in MHC class I presentation<li>Q->R at 768: in dbSNP:rs1057149</ul>							<li>Q02792</li><li>P15003</li><li>Q04189</li><li>Q28433</li><li>P38085</li><li>Q03518</li>		<li>rs2228108</li><li>rs41561219</li><li>rs1057149</li><li>rs41550019</li><li>rs1135216</li><li>rs2228110</li><li>rs2127679</li><li>rs2228111</li><li>rs1057141</li><li>rs57640466</li>	2
Q03519		<ul><li>R->K at 56: in dbSNP:rs17220192<li>A->T at 374: in allele TAP2*01F, allele TAP2*01G, allele TAP2*01H, allele TAP2*02B and allele TAP2*02D<li>V->I at 379: in allele TAP2*01D, allele TAP2*01E, allele TAP2*01G, allele TAP2*02C and allele TAP2*02F; dbSNP:rs1800454<li>V->I at 467: in allele TAP2*01F and allele TAP2*02D<li>A->S at 513: rare polymorphism<li>A->T at 565: in allele TAP2*0102, allele TAP2*01D, allele TAP2*02E and allele TAP2*02F<li>M->V at 577: in allele TAP2*BKY2; dbSNP:rs2228391<li>R->C at 651: in allele TAP2*0103 and allele TAP2*01G<li>T->A at 665: in allele TAP2*0201, allele TAP2*02B, allele TAP2*02C, allele TAP2*02D, allele TAP2*02E, allele TAP2*02F, allele TAP2*04A and allele TAP2*Bky2; dbSNP:rs241447<li>L->LQEGQDLYSRLV at 686: in allele TAP2*0201, allele TAP2*02B, allele TAP2*02C, allele TAP2*02D, allele TAP2*02E, allele TAP2*02F, allele TAP2*03A and allele TAP2*BKY2</ul>							<li>P24609</li><li>Q03519</li><li>P15004</li><li>P38967</li><li>Q9UDX4</li>		rs17220192	2
Q03591	3078	<ul><li>H->Y at 157: in dbSNP:rs425757<li>L->V at 159<li>E->Q at 175: in dbSNP rsrs388862<li>A->V at 296: in dbSNP:rs16840561</ul>									<li>rs16840561</li><li>rs388862</li><li>rs425757</li>	2
Q03692	1300	<ul><li>G->E at 18: in SMCD, MIM: 156500<li>G->R at 18: in SMCD, MIM: 156500<li>M->T at 27: in dbSNP:rs1064583, MIM: 156500<li>G->R at 98: in dbSNP:rs2243370, MIM: 156500<li>R->H at 198, MIM: 156500<li>G->R at 545: in dbSNP:rs2228547, MIM: 156500<li>Y->D at 582: in SMCD, MIM: 156500<li>C->R at 591: in SMCD, MIM: 156500<li>G->E at 595: in SMCD and spondylometaphyseal dysplasia Japanese type, MIM: 156500<li>G->R at 595: in SMCD, MIM: 156500<li>Y->C at 597: in SMCD, MIM: 156500<li>Y->H at 597: in SMCD, MIM: 156500<li>Y->D at 598: in SMCD, MIM: 156500<li>S->P at 600: in SMCD, MIM: 156500<li>V->M at 603, MIM: 156500<li>L->P at 614: in SMCD, MIM: 156500<li>N->K at 617: in SMCD, MIM: 156500<li>G->V at 618: in SMCD, MIM: 156500<li>L->R at 644: in SMCD, MIM: 156500<li>D->G at 648: in SMCD, MIM: 156500<li>W->R at 651: in SMCD, MIM: 156500<li>Q->P at 653: in SMCD, MIM: 156500<li>S->P at 671: in SMCD, MIM: 156500</ul>								Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	<li>rs1064583</li><li>rs2243370</li><li>rs2228547</li>	2
Q03701	10153	<ul><li>P->S at 15: in dbSNP:rs3213746<li>I->V at 102: in dbSNP:rs2098386<li>K->R at 303: in dbSNP:rs17020328</ul>									<li>rs3213746</li><li>rs17020328</li><li>rs2098386</li>	2
Q03721	3749	<ul><li>D->Y at 318: in dbSNP:rs35167146<li>C->Y at 520: in dbSNP:rs12411176</ul>									<li>rs35167146</li><li>rs12411176</li>	2
Q03923	7639	<ul><li>K->T at 60: in dbSNP:rs7254311<li>G->R at 184: in dbSNP:rs11665978<li>T->A at 266: in dbSNP:rs1063156<li>F->S at 270: in dbSNP:rs11670246</ul>									<li>rs1063156</li><li>rs11665978</li><li>rs7254311</li><li>rs11670246</li>	2
Q03936	168374	<ul><li>A->V at 122: in dbSNP:rs10265083<li>Q->R at 492: in dbSNP:rs17853615<li>R->H at 527: in dbSNP:rs10239197</ul>									<li>rs17853615</li><li>rs10265083</li><li>rs10239197</li>	2
Q04118		<ul><li>P->C at 53: in Gl-8; requires 2 nucleotide substitutions<li>Missing  at 158-220: in allele S<li>P->Q at 186: in dbSNP:rs11054208</ul>									rs11054208	2
Q04446	2632	<ul><li>R->G at 190: in dbSNP:rs2229519<li>L->P at 224: in GSD4; loss of activity, MIM: 232500<li>F->L at 257: in GSD4; loss of activity, MIM: 232500<li>T->S at 265: in dbSNP:rs17856389, MIM: 232500<li>Y->S at 329: in GSD4; non-progressive form; 50% residual activity, MIM: 232500<li>V->I at 334: in dbSNP:rs2172397, MIM: 232500<li>T->A at 507: in dbSNP:rs2228389, MIM: 232500<li>R->C at 515: in GSD4; loss of activity, MIM: 232500<li>R->H at 515: in APBD, MIM: 263570<li>R->Q at 524: in GSD4 and APBD, MIM: 232500<li>H->R at 545: in GSD4, MIM: 232500<li>H->R at 628: in GSD4; childhood neuromuscular form; 15 to 25% residual activity, MIM: 232500</ul>								<li>Adult polyglucosan body disease (APBD) [MIM:263570]</li><li>Glycogen storage disease type 4 (GSD4) [MIM:232500]</li>	<li>rs17856389</li><li>rs2228389</li><li>rs2229519</li><li>rs2172397</li>	2
Q04609	2346	<ul><li>A->T at 23: in a colorectal cancer sample; somatic mutation<li>Y->H at 75: in dbSNP:rs202676<li>H->Y at 475: can be associated with lower folate and higher homocysteine levels<li>V->L at 627: in dbSNP:rs2988342</ul>									<li>rs2988342</li><li>rs202676</li>	2
Q04637	1981	<ul><li>P->L at 696: in a colorectal cancer sample; somatic mutation</ul>										2
Q04656	538	<ul><li>A->P at 629: in MNKD, MIM: 309400<li>S->L at 637: in OHS: in dbSNP rsrs28936068, MIM: 304150<li>I->T at 669: in dbSNP:rs2234935, MIM: 304150<li>R->H at 703: in dbSNP:rs2234936, MIM: 304150<li>L->R at 706: in MNKD, MIM: 309400<li>G->R at 727: in MNKD, MIM: 309400<li>V->L at 767: in dbSNP:rs2227291, MIM: 309400<li>R->H at 844: in MNKD, MIM: 309400<li>G->R at 853: in MNKD, MIM: 309400<li>G->V at 860: in MNKD, MIM: 309400<li>L->R at 873: in MNKD, MIM: 309400<li>G->E at 876: in MNKD, MIM: 309400<li>G->R at 876: in MNKD, MIM: 309400<li>Q->R at 924: in MNKD, MIM: 309400<li>C->R at 1000: in MNKD, MIM: 309400<li>L->P at 1006: in MNKD, MIM: 309400<li>A->V at 1007: in MNKD, MIM: 309400<li>G->D at 1015: in MNKD, MIM: 309400<li>G->D at 1019: in MNKD, MIM: 309400<li>D->G at 1044: in MNKD, MIM: 309400<li>L->P at 1100: in MNKD, MIM: 309400<li>G->D at 1118: in MNKD, MIM: 309400<li>G->R at 1255: in MNKD, MIM: 309400<li>K->E at 1282: in MNKD, MIM: 309400<li>G->E at 1300: in MNKD, MIM: 309400<li>G->R at 1302: in MNKD, MIM: 309400<li>G->V at 1302: in MNKD, MIM: 309400<li>N->K at 1304: in MNKD, MIM: 309400<li>D->A at 1305: in MNKD, MIM: 309400<li>G->R at 1315: in MNKD, MIM: 309400<li>A->V at 1325: in MNKD, MIM: 309400<li>S->R at 1344: in MNKD, MIM: 309400<li>I->F at 1345: in MNKD, MIM: 309400<li>A->V at 1362: in MNKD, MIM: 309400<li>G->R at 1369: in MNKD, MIM: 309400<li>S->F at 1397: in MNKD, MIM: 309400<li>I->V at 1464: in dbSNP:rs2234938, MIM: 309400</ul>								<li>Menkes disease (MNKD) [MIM:309400]</li><li>Occipital horn syndrome (OHS) [MIM:304150]</li>	<li>rs2234938</li><li>rs2234935</li><li>rs2227291</li><li>rs2234936</li><li>rs28936068</li>	2
Q04671	4948	<ul><li>R->W at 10: in OCA2, MIM: 203200<li>G->R at 27: in OCA2, MIM: 203200<li>S->R at 86: in OCA2, MIM: 203200<li>C->F at 112: in OCA2, MIM: 203200<li>P->L at 198: in OCA2, MIM: 203200<li>Missing  at 206-211: in OCA2; severe, MIM: 203200<li>P->L at 211: in OCA2, MIM: 203200<li>P->R at 241: in dbSNP:rs2305253, MIM: 203200<li>A->D at 257: in dbSNP:rs1050968, MIM: 203200<li>R->W at 266: in dbSNP:rs33929465, MIM: 203200<li>NW->KV at 273-274: in OCA2, MIM: 203200<li>R->G at 290: in OCA2, MIM: 203200<li>R->W at 305: polymorphism associated with nonblue eye color; could be a biomarker of cutaneous cancer risk; dbSNP:rs1800401, MIM: 203200<li>A->V at 334: in OCA2, MIM: 203200<li>A->V at 336: in dbSNP:rs34010619, MIM: 203200<li>V->M at 350: in unclassified OCA, MIM: 203200<li>A->V at 368: in OCA2, MIM: 203200<li>I->T at 370: in unclassified OCA; dbSNP:rs34731820, MIM: 203200<li>F->I at 385: in OCA2; severe, MIM: 203200<li>T->M at 387, MIM: 203200<li>M->I at 394: in OCA2, MIM: 203200<li>M->L at 395: in OCA2; severe, MIM: 203200<li>T->M at 404: in OCA2, MIM: 203200<li>R->Q at 419: polymorphism associated with green/hazel eye color; dbSNP:rs1800407, MIM: 203200<li>R->W at 419: in OCA2, MIM: 203200<li>Missing  at 425: in OCA2; mild, MIM: 203200<li>L->F at 440: in dbSNP:rs1800408, MIM: 203200<li>L->H at 440, MIM: 203200<li>V->I at 443: in OCA2: in dbSNP rsrs28934272, MIM: 203200<li>M->V at 446: in OCA2; mild; AROA form, MIM: 203200<li>I->S at 473: in OCA2, MIM: 203200<li>N->D at 476: in OCA2, MIM: 203200<li>A->T at 481: in OCA2, MIM: 203200<li>N->D at 489: in OCA2; mild/severe, MIM: 203200<li>V->A at 519: in dbSNP:rs41446944, MIM: 203200<li>H->Q at 549: in OCA2, MIM: 203200<li>R->H at 560: in dbSNP:rs35110389, MIM: 203200<li>T->I at 592: in OCA2; dbSNP:rs1800413, MIM: 203200<li>K->E at 614: in OCA2, MIM: 203200<li>K->N at 614: in OCA2, MIM: 203200<li>H->R at 615: in dbSNP:rs1800414, MIM: 203200<li>I->L at 617: in OCA2, MIM: 203200<li>W->R at 652: in OCA2, MIM: 203200<li>E->K at 678: in unclassified OCA, MIM: 203200<li>W->C at 679: in OCA2, MIM: 203200<li>W->R at 679: in OCA2; severe, MIM: 203200<li>L->F at 688: in unclassified OCA, MIM: 203200<li>R->C at 720: in OCA2, MIM: 203200<li>I->T at 722: in dbSNP:rs1800417, MIM: 203200<li>A->P at 724: in OCA2, MIM: 203200<li>S->L at 736: in OCA2, MIM: 203200<li>P->L at 743: in OCA2 and unclassified OCA, MIM: 203200<li>A->T at 773: in a breast cancer sample; somatic mutation, MIM: 203200<li>G->R at 775: in OCA2, MIM: 203200<li>A->V at 787: in OCA2, MIM: 203200<li>G->R at 795: in OCA2, MIM: 203200<li>Q->H at 799: in OCA2, MIM: 203200<li>Y->H at 827: in OCA2, MIM: 203200<li>Missing  at 833: in OCA2, MIM: 203200</ul>							Q04671	Oculocutaneous albinism type 2 (OCA2) [MIM:203200]	<li>rs1800408</li><li>rs2305253</li><li>rs1800417</li><li>rs1050968</li><li>rs34731820</li><li>rs1800407</li><li>rs34010619</li><li>rs35110389</li><li>rs33929465</li><li>rs28934272</li><li>rs1800401</li><li>rs1800414</li><li>rs41446944</li><li>rs1800413</li>	2
Q04695	3872	<ul><li>M->T at 88: in PC2 and SM: in dbSNP rsrs28928898, MIM: 184500<li>N->D at 92: in PC2, MIM: 167210<li>N->H at 92: in SM: in dbSNP rsrs28928896, MIM: 184500<li>N->S at 92: in PC2: in dbSNP rsrs59151893, MIM: 167210<li>Missing  at 94-98: in PC2, MIM: 167210<li>R->C at 94: in PC2 and SM: in dbSNP rsrs58730926, MIM: 184500<li>R->H at 94: in SM: in dbSNP rsrs28928897, MIM: 184500<li>R->P at 94: in PC2: in dbSNP rsrs28928897, MIM: 167210<li>L->P at 95: in PC2: in dbSNP rsrs28928899, MIM: 167210<li>L->Q at 95: in PC2: in dbSNP rsrs28928899, MIM: 167210<li>Missing  at 97: in PC2, MIM: 167210<li>Y->D at 98: in PC2: in dbSNP rsrs28933088, MIM: 167210<li>L->P at 99: in PC2: in dbSNP rsrs28933089, MIM: 167210<li>V->M at 102: in PC2: in dbSNP rsrs59977263, MIM: 167210<li>N->D at 109: in PC2, MIM: 167210</ul>							<li>P21661</li><li>Q03333</li><li>P28841</li><li>P16519</li><li>Q9GLR0</li><li>Q5REC2</li>	<li>Steatocystoma multiplex (SM) [MIM:184500]</li><li>Pachyonychia congenita type 2 (PC2) [MIM:167210]</li>	<li>rs58730926</li><li>rs28933089</li><li>rs28933088</li><li>rs28928896</li><li>rs28928897</li><li>rs28928898</li><li>rs59151893</li><li>rs59977263</li><li>rs28928899</li>	2
Q04721	4853	<ul><li>C->Y at 444: in ALGS2, MIM: 610205<li>V->F at 1667: in dbSNP:rs17024517, MIM: 610205</ul>								Alagille syndrome type 2 (ALGS2) [MIM:610205]	rs17024517	2
Q04726	7090	<ul><li>A->V at 229: in dbSNP:rs1057864</ul>									rs1057864	2
Q04756	3083	<ul><li>A->S at 218: in dbSNP:rs3748034<li>V->M at 225: in dbSNP:rs16844370<li>F->L at 231: in dbSNP:rs1987546<li>R->H at 509: in dbSNP:rs16844401<li>R->Q at 644: in dbSNP:rs2498323</ul>									<li>rs3748034</li><li>rs1987546</li><li>rs16844401</li><li>rs2498323</li><li>rs16844370</li>	2
Q04759	5588	<ul><li>K->N at 240: in a colorectal adenocarcinoma sample; somatic mutation<li>D->V at 306: in dbSNP rsrs45590231<li>P->L at 330: in dbSNP:rs2236379<li>D->N at 354: in dbSNP rsrs34524148</ul>									<li>rs2236379</li><li>rs34524148</li><li>rs45590231</li>	2
Q04760	2739	<ul><li>C->Y at 19: in dbSNP:rs17855424<li>E->A at 111: in dbSNP:rs4746</ul>									<li>rs4746</li><li>rs17855424</li>	2
Q04771	90	<ul><li>A->G at 15: in dbSNP:rs13406336<li>S->F at 41: in dbSNP rsrs55957214<li>H->Q at 47: in dbSNP rsrs34056189<li>P->S at 115: in a melanoma sample; somatic mutation<li>R->H at 206: in FOP, MIM: 135100</ul>							O95684	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	<li>rs34056189</li><li>rs55957214</li><li>rs13406336</li>	2
Q04826		<ul><li>L->V at 9: in allele B*4001<li>WG->SA at 14-15: in allele B*4001<li>V->L at 17: in allele B*4001<li>SV->AM at 35-36: in allele B*4001 and allele B*4016<li>E->N at 87: in allele B*4008; requires 2 nucleotide substitutions<li>S->F at 91: in allele B*4008<li>TL->II at 118-119: in allele B*4003<li>L->W at 119: in allele B*4006<li>S->R at 121: in allele B*4001 and allele B*4003<li>S->T at 121: in allele B*4006<li>V->L at 127: in allele B*4003<li>H->Y at 137: in allele B*4009<li>N->D at 138: in allele B*4004 and allele B*4009<li>Y->N at 140: in allele B*4027<li>Y->S at 140: in allele B*4004<li>T->S at 167: in allele B*4001<li>W->L at 171: in allele B*4001<li>V->E at 176: in allele B*4005 and allele B*4016<li>L->R at 180: in allele B*4016<li>E->L at 187: in allele B*4005; requires 2 nucleotide substitutions<li>ET->DK at 201-202: in allele B*4001 and allele B*4016<li>Q->E at 204: in allele B*4001 and allele B*4016</ul>										2
Q04828	1645	<ul><li>R->H at 170: in dbSNP:rs17295755<li>Q->L at 172: in dbSNP:rs17354444</ul>									<li>rs17354444</li><li>rs17295755</li>	2
Q04844	1145	<ul><li>G->R at 13: in FCCMS; impaired association with alpha CHRNA1 subunit of AChR, MIM: 608930<li>G->V at 18: in dbSNP:rs4790235, MIM: 608930<li>L->P at 98: in SCCMS; rare example of recessive inheritance: in dbSNP rsrs28929768, MIM: 601462<li>P->L at 141: in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh, MIM: 608930<li>S->L at 163: in FCCMS; fails to assemble with alpha CHRNA1 subunit of AChR, MIM: 608930<li>R->L at 167: in ACHRDCMS; significantly reduced AChR expression, MIM: 608931<li>L->F at 241: in SCCMS; mild form with variable penetrance: in dbSNP rsrs28999110, MIM: 601462<li>P->L at 265: in ACHRDCMS; prolongs burst open duration 2-fold by slowing the rate of channel closing, MIM: 608931<li>T->P at 284: in SCCMS; markedly prolonged channel openings in presence of agonist; as well as opening in the absence of agonist, MIM: 601462<li>L->F at 289: in SCCMS; slows rate of AChR channel closure and increases apparent affinity for ACh; causes pathologic channel openings even in the absence of ACh resulting in a leaky channel, MIM: 601462<li>R->W at 331: in ACHRDCMS; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current, MIM: 608931<li>A->P at 431: in FCCMS; causes an increase in distributions of rates for channel opening and closing increasing the range of activation kinetics, MIM: 608930</ul>							<li>P54251</li><li>P54250</li><li>P54249</li><li>P09688</li><li>P14144</li><li>P02708</li><li>P14143</li><li>P02709</li><li>P54248</li><li>P02711</li><li>P02710</li><li>P09479</li>	<li>Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]</li><li>Congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]</li><li>Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]</li>	<li>rs28999110</li><li>rs28929768</li><li>rs4790235</li>	2
Q04912	4486	<ul><li>R->S at 75: in dbSNP rsrs35887539<li>P->T at 95: in dbSNP rsrs55908300<li>R->C at 185: in dbSNP rsrs55633379<li>Q->R at 322: in dbSNP rsrs2230593<li>G->D at 356: in dbSNP rsrs35924402<li>S->L at 434: in dbSNP:rs2230591<li>N->S at 440: in dbSNP:rs2230592<li>G->D at 465: in dbSNP rsrs34564898<li>R->C at 504: in dbSNP rsrs34350470<li>R->Q at 523: in dbSNP rsrs2230590<li>Q->P at 613: in dbSNP rsrs35986685<li>V->M at 900: in dbSNP rsrs56091918<li>R->G at 1304<li>R->G at 1335: in dbSNP:rs1062633<li>Y->C at 1360: in dbSNP rsrs56330223</ul>									<li>rs56330223</li><li>rs2230591</li><li>rs34350470</li><li>rs2230590</li><li>rs56091918</li><li>rs35924402</li><li>rs2230592</li><li>rs2230593</li><li>rs55633379</li><li>rs35986685</li><li>rs35887539</li><li>rs55908300</li><li>rs1062633</li><li>rs34564898</li>	2
Q04941	5355	<ul><li>A->S at 91: in dbSNP:rs1802969</ul>									rs1802969	2
Q05066	100130809	<ul><li>S->L at 3: in GDXY, MIM: 306100<li>S->N at 18: in GDXY; partial; also in two patients with a Turner syndrome phenotype, MIM: 306100<li>V->A at 60: in GDXY, MIM: 306100<li>V->L at 60: in GDXY, MIM: 306100<li>R->G at 62: in GDXY, MIM: 306100<li>M->I at 64: in GDXY, MIM: 306100<li>M->R at 64: in GDXY, MIM: 306100<li>F->V at 67: in GDXY, MIM: 306100<li>I->T at 68: in GDXY, MIM: 306100<li>R->S at 76: in GDXY; XY sex reversal, MIM: 306100<li>M->T at 78: in GDXY, MIM: 306100<li>N->Y at 87: in GDXY; XY sex reversal, MIM: 306100<li>I->M at 90: in GDXY and true hermaphroditism, MIM: 235600<li>S->G at 91: in GDXY; XY sex reversal, MIM: 306100<li>G->E at 95: in GDXY, MIM: 306100<li>G->R at 95: in GDXY, MIM: 306100<li>L->H at 101: in GDXY, MIM: 306100<li>K->I at 106: in GDXY, MIM: 306100<li>P->R at 108: in GDXY, MIM: 306100<li>F->S at 109: in GDXY, MIM: 306100<li>A->T at 113: in GDXY, MIM: 306100<li>P->L at 125: in GDXY; XY sex reversal, MIM: 306100<li>Y->C at 127: in GDXY; XY sex reversal, MIM: 306100<li>Y->F at 127: in GDXY, MIM: 306100<li>P->R at 131: in GDXY; XY sex reversal, MIM: 306100<li>R->W at 133: in GDXY, MIM: 306100</ul>								<li>True hermaphroditism [MIM:235600]</li><li>Gonadal dysgenesis XY female type (GDXY) [MIM:306100]</li>		2
Q05086	7337	<ul><li>C->Y at 44: probable polymorphism<li>R->H at 62<li>A->T at 201<li>V->G at 290: in dbSNP:rs1059383<li>S->P at 372<li>I->II at 826: in AS</ul>									rs1059383	2
Q05193	1759	<ul><li>D->N at 744: in dbSNP:rs1042007</ul>									rs1042007	2
Q05209	5782	<ul><li>K->R at 61: in colon cancer<li>I->V at 322: in dbSNP:rs9640663<li>T->A at 573: in dbSNP:rs3750050</ul>									<li>rs3750050</li><li>rs9640663</li>	2
Q05315	1178	<ul><li>V->A at 28: in dbSNP:rs17608</ul>									rs17608	2
Q05329	2572	<ul><li>G->R at 12: in dbSNP:rs8190591<li>K->N at 124: in dbSNP:rs8190600<li>P->Q at 153: in dbSNP:rs2839672<li>G->E at 232: in dbSNP:rs2839673<li>K->R at 286: in dbSNP:rs8190671<li>G->A at 326: in dbSNP:rs2839678<li>R->Q at 375: in dbSNP:rs8190730</ul>									<li>rs2839678</li><li>rs8190730</li><li>rs8190591</li><li>rs8190671</li><li>rs8190600</li><li>rs2839672</li><li>rs2839673</li>	2
Q05397	5747	<ul><li>H->P at 292<li>H->Q at 292<li>V->A at 793: in a glioblastoma multiforme sample; somatic mutation<li>D->E at 1030<li>K->E at 1044: in a metastatic melanoma sample; somatic mutation</ul>										2
Q05469	3991	<ul><li>Y->H at 100: in dbSNP:rs16975750<li>Q->H at 127: in dbSNP:rs34080774<li>P->Q at 146: in a breast cancer sample; somatic mutation<li>P->S at 146: in dbSNP:rs34348028<li>S->T at 177: in dbSNP:rs16975748<li>A->V at 194: in dbSNP rsrs34996020<li>R->Q at 217: in dbSNP rsrs3745238<li>K->N at 497: in dbSNP rsrs35938529<li>N->H at 499: in dbSNP:rs33921216<li>R->S at 938: in dbSNP:rs7246232</ul>									<li>rs16975750</li><li>rs35938529</li><li>rs3745238</li><li>rs16975748</li><li>rs34348028</li><li>rs7246232</li><li>rs34080774</li><li>rs34996020</li><li>rs33921216</li>	2
Q05513	5590	<ul><li>R->H at 49: in dbSNP:rs35271800<li>R->H at 84: in dbSNP rsrs56017162<li>S->F at 514: in a colorectal cancer sample; somatic mutation<li>R->C at 519: in a colorectal adenocarcinoma sample; somatic mutation</ul>									<li>rs35271800</li><li>rs56017162</li>	2
Q05586	2902	<ul><li>I->M at 540: in dbSNP:rs3181457</ul>									rs3181457	2
Q05655	5580	<ul><li>N->S at 348: in dbSNP:rs33911937<li>F->S at 375: in dbSNP:rs1056998<li>L->F at 410: in dbSNP:rs34502209<li>R->W at 483: in dbSNP:rs35891605<li>M->V at 494<li>V->M at 593</ul>									<li>rs33911937</li><li>rs1056998</li><li>rs34502209</li><li>rs35891605</li>	2
Q05707	7373	<ul><li>N->H at 563: in dbSNP:rs4870723<li>P->L at 855: in dbSNP:rs2305606<li>V->I at 922: in dbSNP:rs11774228<li>V->L at 1342: in dbSNP:rs17833992</ul>									<li>rs17833992</li><li>rs11774228</li><li>rs2305606</li><li>rs4870723</li>	2
Q05823	6041	<ul><li>G->S at 59<li>I->L at 97: in dbSNP rsrs56250729<li>A->T at 289: in dbSNP rsrs35553278<li>S->F at 406<li>R->Q at 462: risk factor for prostate cancer; reduced enzymatic activity; dbSNP:rs486907<li>D->E at 541: no change in enzymatic activity; dbSNP:rs627928<li>R->H at 592: in dbSNP rsrs35896902</ul>									<li>rs56250729</li><li>rs35896902</li><li>rs627928</li><li>rs486907</li><li>rs35553278</li>	2
Q05901	1142	<ul><li>K->E at 451: in dbSNP:rs35327613</ul>									rs35327613	2
Q05932	2356	<ul><li>V->D at 437: in dbSNP:rs12686275<li>A->V at 489: in dbSNP:rs17855900<li>S->T at 528: in dbSNP:rs34354111</ul>									<li>rs17855900</li><li>rs12686275</li><li>rs34354111</li>	2
Q05952	7142	<ul><li>R->W at 131: in dbSNP:rs11640138</ul>									rs11640138	2
Q05996	7783	<ul><li>G->V at 36: in dbSNP:rs2075520</ul>									rs2075520	2
Q05BV3	161436	<ul><li>I->V at 269: in dbSNP:rs17188228</ul>									rs17188228	2
Q05C16		<ul><li>M->V at 137: in dbSNP:rs7338697<li>M->V at 206: in dbSNP:rs6561303<li>K->R at 281: in dbSNP:rs12865423<li>T->A at 282: in dbSNP:rs12865424</ul>									<li>rs7338697</li><li>rs6561303</li><li>rs12865423</li><li>rs12865424</li>	2
Q05D32	51496	<ul><li>A->V at 244: in dbSNP:rs871923</ul>									rs871923	2
Q05D60	159989	<ul><li>S->F at 175: in dbSNP:rs34205920<li>E->Q at 440: in dbSNP:rs12288277<li>Q->K at 504: in dbSNP:rs2259633</ul>									<li>rs2259633</li><li>rs34205920</li><li>rs12288277</li>	2
Q06033	3699	<ul><li>Q->K at 315: in dbSNP:rs3617<li>T->M at 340: in dbSNP:rs35271262<li>T->A at 751: in dbSNP:rs9883888<li>R->Q at 825: in dbSNP:rs2710330<li>A->V at 858: in dbSNP:rs2710329</ul>									<li>rs2710329</li><li>rs35271262</li><li>rs9883888</li><li>rs2710330</li><li>rs3617</li>	2
Q06055		<ul><li>S->I at 58: in dbSNP:rs13819<li>M->K at 141: in dbSNP:rs1803177</ul>									<li>rs13819</li><li>rs1803177</li>	2
Q06124	5781	<ul><li>T->I at 2: in NS1, MIM: 163950<li>T->A at 42: in NS1, MIM: 163950<li>N->K at 58: in NS1, MIM: 163950<li>G->A at 60: in NS1, MIM: 163950<li>G->V at 60: in myelodysplastic syndrome, MIM: 163950<li>D->G at 61: in NS1, MIM: 163950<li>D->N at 61: in NS1, MIM: 163950<li>D->V at 61: in JMML; also in myelodysplastic syndrome, MIM: 607785<li>D->Y at 61: in JMML, MIM: 607785<li>Y->D at 62: in NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia, MIM: 163950<li>Y->C at 63: in NS1, MIM: 163950<li>E->K at 69: in JMML; also in myelodysplastic syndrome, MIM: 607785<li>E->Q at 69: in NS1, MIM: 163950<li>F->K at 71: in acute myeloid leukemia; requires 2 nucleotide substitutions, MIM: 163950<li>F->L at 71: in myelodysplastic syndrome, MIM: 163950<li>A->G at 72: in NS1, MIM: 163950<li>A->S at 72: in NS1, MIM: 163950<li>A->T at 72: in JMML, MIM: 607785<li>A->V at 72: in JMML, MIM: 607785<li>T->I at 73: in NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia: in dbSNP rsrs28933387, MIM: 163950<li>E->A at 76: in JMML; also in myelodysplastic syndrome, MIM: 607785<li>E->D at 76: in NS1, MIM: 163950<li>E->G at 76: in JMML, MIM: 607785<li>E->K at 76: in JMML: in dbSNP rsrs28933388, MIM: 607785<li>E->V at 76: in JMML, MIM: 607785<li>Q->P at 79: in NS1, MIM: 163950<li>Q->R at 79: in NS1, MIM: 163950<li>D->A at 106: in NS1, MIM: 163950<li>E->D at 139: in NS1, MIM: 163950<li>Q->R at 256: in NS1, MIM: 163950<li>Y->C at 279: in NS1 and LEOPARD syndrome, MIM: 163950<li>Y->S at 279: in LEOPARD syndrome, MIM: 151100<li>I->V at 282: in NS1, MIM: 163950<li>F->L at 285: in NS1, MIM: 163950<li>F->S at 285: in NS1, MIM: 163950<li>N->D at 308: in NS1; common mutation, MIM: 163950<li>N->S at 308: in NS1 and Noonan-like syndrome, MIM: 163955<li>I->V at 309: in NS1, MIM: 163950<li>T->M at 415: in NS1, MIM: 163950<li>A->T at 465: in LEOPARD syndrome, MIM: 151100<li>G->A at 468: in LEOPARD syndrome, MIM: 151100<li>T->M at 472: in LEOPARD syndrome, MIM: 151100<li>R->L at 502: in LEOPARD syndrome, MIM: 151100<li>R->W at 502: in LEOPARD syndrome, MIM: 151100<li>R->K at 505: in NS1, MIM: 163950<li>S->T at 506: in NS1, MIM: 163950<li>G->A at 507: in JMML, MIM: 607785<li>G->R at 507: in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia, MIM: 607785<li>M->V at 508: in NS1, MIM: 163950<li>Q->P at 510: in LEOPARD syndrome, MIM: 151100<li>Q->R at 510: in NS1, MIM: 163950<li>Q->P at 514: in LEOPARD syndrome, MIM: 151100<li>L->F at 564: in NS1, MIM: 163950</ul>							<li>P12599</li><li>P12596</li><li>P27959</li><li>P12595</li><li>P12598</li><li>P12597</li><li>Q69422</li><li>P27956</li><li>Q9DHD6</li><li>P27955</li><li>P27958</li><li>P30910</li><li>P27957</li><li>P30911</li><li>P03494</li><li>Q81754</li><li>P30912</li><li>P03495</li><li>P03496</li><li>P27953</li><li>Q9WMX2</li><li>P04544</li><li>O57268</li><li>P27960</li><li>P30026</li><li>P27961</li><li>P27438</li><li>Q70UV1</li><li>P0C141</li><li>P0C140</li><li>P52502</li><li>P29990</li><li>P29991</li><li>P0A1R9</li><li>P0A1R8</li><li>P09732</li><li>P0C138</li><li>P0C136</li><li>P0C134</li><li>P03499</li><li>P21431</li><li>P03498</li><li>P18356</li><li>P32886</li><li>Q9YRV3</li><li>Q01639</li><li>Q81495</li><li>P06431</li><li>Q913D4</li><li>Q65694</li><li>P24030</li><li>P69256</li><li>P28888</li><li>P07564</li><li>O42083</li><li>Q68749</li><li>Q89277</li><li>P06944</li><li>O48593</li><li>P03134</li><li>P03133</li><li>P07296</li><li>O39927</li><li>O39928</li><li>Q074N0</li><li>P07298</li><li>O39929</li><li>P69254</li><li>P69255</li><li>P69252</li><li>P18547</li><li>P69253</li><li>P12823</li><li>Q6DV88</li><li>P30909</li><li>P06935</li><li>O41649</li><li>Q01403</li><li>P13143</li><li>P27912</li><li>P27913</li><li>P13141</li><li>Q01404</li><li>P27914</li><li>P13142</li><li>P13140</li><li>P27910</li><li>P17763</li><li>P26664</li><li>P27915</li><li>P08268</li><li>O92529</li><li>P29846</li><li>P17042</li><li>Q99IB8</li><li>Q84056</li><li>P33515</li><li>Q90054</li><li>P52681</li><li>P13139</li><li>P69278</li><li>P13137</li><li>P69279</li><li>P03314</li><li>P69277</li><li>Q00269</li><li>P69274</li><li>P08270</li><li>P69273</li><li>P69272</li><li>P08272</li><li>P11618</li><li>P69271</li><li>P29165</li><li>P69270</li><li>P08274</li><li>P08276</li><li>P27909</li><li>P08278</li><li>P0ACF5</li><li>P0ACF4</li><li>P0ACF7</li><li>O91936</li><li>P0ACF6</li><li>P26148</li><li>O92531</li><li>P03500</li><li>Q81487</li><li>P05769</li><li>O92530</li><li>P03502</li><li>P26662</li><li>Q90185</li><li>O92532</li><li>P26663</li><li>P36349</li><li>P26660</li><li>P26661</li><li>Q5EG65</li><li>P19110</li><li>P18295</li><li>Q04538</li><li>P12592</li><li>Q68801</li><li>O56264</li><li>P27395</li><li>P12593</li><li>P08013</li><li>P12601</li><li>P12602</li><li>P12600</li><li>Q82506</li><li>Q01299</li><li>P33478</li><li>P36311</li><li>P07720</li><li>P24568</li><li>Q81258</li><li>Q6J3P1</li><li>P09866</li><li>Q9QAX1</li><li>Q1X880</li><li>P14340</li><li>Q1X881</li><li>P14403</li><li>P07300</li><li>O71153</li><li>P29983</li><li>P29984</li><li>P12929</li><li>P22338</li><li>Q98803</li><li>P69417</li><li>Q784P6</li><li>P29837</li><li>P27454</li><li>P24842</li><li>Q68798</li><li>Q86306</li><li>Q5I2N3</li><li>P14336</li><li>P14335</li>	<li>LEOPARD syndrome [MIM:151100]</li><li>Juvenile myelomonocytic leukemia (JMML) [MIM:607785]</li><li>Noonan-like syndrome [MIM:163955]</li><li>Noonan syndrome 1 (NS1) [MIM:163950]</li>	<li>rs28933387</li><li>rs28933388</li>	2
Q06187	695	<ul><li>L->P at 11: in XLA, MIM: 300300<li>K->R at 12: in XLA, MIM: 300300<li>S->F at 14: in XLA, MIM: 300300<li>K->E at 19: in XLA, MIM: 300300<li>F->S at 25: in XLA, MIM: 300300<li>K->R at 27: in XLA, MIM: 300300<li>R->C at 28: in XLA; no effect on phosphorylation of GTF2I, MIM: 300300<li>R->H at 28: in XLA; moderate, MIM: 300300<li>R->P at 28: in XLA, MIM: 300300<li>T->P at 33: in XLA; severe, MIM: 300300<li>Y->S at 39: in XLA, MIM: 300300<li>Y->C at 40: in XLA, MIM: 300300<li>Y->N at 40: in XLA, MIM: 300300<li>I->N at 61: in XLA, MIM: 300300<li>V->D at 64: in XLA, MIM: 300300<li>V->F at 64: in XLA, MIM: 300300<li>R->K at 82: in dbSNP:rs56035945, MIM: 300300<li>Q->QSVFSSTR at 103: in XLA, MIM: 300300<li>V->D at 113: in XLA, MIM: 300300<li>S->F at 115: in XLA, MIM: 300300<li>T->P at 117: in XLA, MIM: 300300<li>Q->H at 127: in XLA, MIM: 300300<li>C->S at 154: in XLA, MIM: 300300<li>C->G at 155: in XLA, MIM: 300300<li>C->R at 155: in XLA, MIM: 300300<li>T->P at 184: in XLA, MIM: 300300<li>P->K at 190: in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions, MIM: 300300<li>Missing  at 260-280: in XLA; severe, MIM: 300300<li>R->Q at 288: in XLA, MIM: 300300<li>R->W at 288: in XLA, MIM: 300300<li>L->P at 295: in XLA, MIM: 300300<li>G->E at 302: in XLA, MIM: 300300<li>G->R at 302: in XLA, MIM: 300300<li>Missing  at 302: in XLA, MIM: 300300<li>R->G at 307: in XLA; loss of activity, MIM: 300300<li>R->T at 307: in XLA, MIM: 300300<li>D->E at 308: in XLA, MIM: 300300<li>V->A at 319: in XLA; moderate, MIM: 300300<li>Y->S at 334: in XLA, MIM: 300300<li>L->F at 358: in XLA, MIM: 300300<li>Y->C at 361: in XLA; mild; dbSNP:rs28935478, MIM: 300300<li>H->Q at 362: in XLA, MIM: 300300<li>H->P at 364: in XLA, MIM: 300300<li>N->Y at 365: in XLA, MIM: 300300<li>S->F at 366: in XLA, MIM: 300300<li>L->F at 369: in XLA, MIM: 300300<li>I->M at 370: in XLA, MIM: 300300<li>R->G at 372: in XLA, MIM: 300300<li>L->P at 408: in XLA; moderate, MIM: 300300<li>G->R at 414: in XLA, MIM: 300300<li>Y->H at 418: in XLA, MIM: 300300<li>I->N at 429: in XLA, MIM: 300300<li>K->E at 430: in XLA; loss of phosphorylation of GTF2I, MIM: 300300<li>K->R at 430: in XLA, MIM: 300300<li>E->D at 445: in XLA, MIM: 300300<li>G->D at 462: in XLA, MIM: 300300<li>G->V at 462: in XLA, MIM: 300300<li>Y->D at 476: in XLA, MIM: 300300<li>M->R at 477: in XLA, MIM: 300300<li>C->F at 502: in XLA, MIM: 300300<li>C->W at 502: in XLA, MIM: 300300<li>C->R at 506: in XLA, MIM: 300300<li>C->Y at 506: in XLA, MIM: 300300<li>A->D at 508: in XLA, MIM: 300300<li>M->I at 509: in XLA, MIM: 300300<li>M->V at 509: in XLA, MIM: 300300<li>L->P at 512: in XLA, MIM: 300300<li>L->Q at 512: in XLA, MIM: 300300<li>L->R at 518: in XLA, MIM: 300300<li>R->Q at 520: in XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue, MIM: 300300<li>D->G at 521: in XLA, MIM: 300300<li>D->H at 521: in XLA; severe, MIM: 300300<li>D->N at 521: in XLA; severe, MIM: 300300<li>A->E at 523: in XLA, MIM: 300300<li>R->G at 525: in XLA, MIM: 300300<li>R->P at 525: in XLA, MIM: 300300<li>R->Q at 525: in XLA; severe; disturbs ATP-binding, MIM: 300300<li>N->K at 526: in XLA, MIM: 300300<li>V->F at 535: in XLA, MIM: 300300<li>L->P at 542: in XLA; growth hormone deficiency, MIM: 300300<li>R->G at 544: in XLA, MIM: 300300<li>R->K at 544: in XLA, MIM: 300300<li>F->S at 559: in XLA, MIM: 300300<li>R->P at 562: in XLA: in dbSNP rsrs28935176, MIM: 300300<li>R->W at 562: in XLA, MIM: 300300<li>W->L at 563: in XLA, MIM: 300300<li>E->K at 567: in XLA; severe, MIM: 300300<li>S->Y at 578: in XLA, MIM: 300300<li>W->R at 581: in XLA, MIM: 300300<li>A->V at 582: in XLA, MIM: 300300<li>F->S at 583: in XLA, MIM: 300300<li>M->L at 587: in XLA; mild, MIM: 300300<li>E->D at 589: in XLA, MIM: 300300<li>E->G at 589: in XLA; moderate; interferes with substrate binding, MIM: 300300<li>E->K at 589: in XLA, MIM: 300300<li>S->P at 592: in XLA, MIM: 300300<li>G->E at 594: in XLA; mild; interferes with substrate binding, MIM: 300300<li>G->R at 594: in XLA, MIM: 300300<li>Y->C at 598: in XLA, MIM: 300300<li>A->D at 607: in XLA; mild, MIM: 300300<li>G->D at 613: in XLA; mild; interferes with substrate binding and/or domain interactions, MIM: 300300<li>P->A at 619: in XLA, MIM: 300300<li>P->S at 619: in XLA, MIM: 300300<li>P->T at 619: in XLA, MIM: 300300<li>A->P at 622: in XLA, MIM: 300300<li>V->G at 626: in XLA, MIM: 300300<li>M->I at 630: polymorphism, 35%, MIM: 300300<li>M->K at 630: in XLA, MIM: 300300<li>M->T at 630: in XLA, MIM: 300300<li>C->Y at 633: in XLA, MIM: 300300<li>R->C at 641: in XLA, MIM: 300300<li>R->H at 641: in XLA; severe, MIM: 300300<li>F->L at 644: in XLA, MIM: 300300<li>F->S at 644: in XLA, MIM: 300300<li>L->P at 647: in XLA, MIM: 300300<li>L->P at 652: in XLA, MIM: 300300</ul>	phosphorylation	GO:0016310	<li>binding</li><li>ATP-binding</li>	<li>GO:0005488</li><li>GO:0005524</li>			<li>O12980</li><li>Q7YQB8</li><li>P06880</li><li>P45654</li><li>Q8MI73</li><li>P45655</li><li>P08998</li><li>O93566</li><li>Q9IBE5</li><li>Q9IB11</li><li>P13391</li><li>P33711</li><li>P34747</li><li>P34746</li><li>Q9DGG5</li><li>Q01283</li><li>P10766</li><li>Q01282</li><li>Q8HYE5</li><li>O62754</li><li>P34745</li><li>P34744</li><li>P01246</li><li>Q659Q8</li><li>Q05163</li><li>P09113</li><li>P01245</li><li>P01244</li><li>Q9W6R8</li><li>Q9I9L5</li><li>P45643</li><li>P01248</li><li>Q9W6J7</li><li>P10298</li><li>P33093</li><li>P33092</li><li>Q07221</li><li>Q7YRR6</li><li>Q9PWG3</li><li>Q9W6J5</li><li>P10607</li><li>P22077</li><li>Q9JKM4</li><li>Q9GKA1</li><li>P67931</li><li>P58756</li><li>P56437</li><li>O18938</li><li>P67930</li><li>P37886</li><li>P11228</li><li>Q9I9M4</li><li>P37885</li><li>P55755</li><li>P34006</li><li>P34005</li><li>Q98UF6</li><li>P10813</li><li>P48248</li><li>P10814</li><li>P46407</li><li>P29971</li><li>P46404</li><li>Q9GL60</li><li>P24363</li><li>P07064</li><li>Q7YQD2</li><li>P01241</li><li>P20391</li><li>P20392</li><li>P19795</li><li>P87391</li><li>P69158</li><li>Q9GMB2</li><li>P08591</li><li>Q9GMB3</li><li>P79885</li><li>P69159</li><li>Q864S7</li><li>P09539</li><li>P09537</li><li>O73848</li><li>Q9DEV3</li><li>Q1HFN3</li><li>O73849</li><li>O13188</li><li>P78347</li><li>O70615</li><li>P69160</li><li>P69161</li><li>P58343</li><li>P69162</li>	X-linked agammaglobulinemia type 1 (XLA) [MIM:300300]	<li>rs28935176</li><li>rs28935478</li><li>rs56035945</li>	2
Q06190	5523	<ul><li>D->G at 67: in dbSNP:rs9814557<li>N->S at 108: in dbSNP:rs36020282<li>A->S at 171: in dbSNP:rs6779903<li>P->A at 481: in dbSNP:rs34901937<li>S->G at 642: in dbSNP:rs17197552<li>P->L at 695: in dbSNP:rs9826032<li>D->N at 745: in dbSNP:rs16843645</ul>									<li>rs16843645</li><li>rs9826032</li><li>rs36020282</li><li>rs17197552</li><li>rs6779903</li><li>rs34901937</li><li>rs9814557</li>	2
Q06250		<ul><li>A->T at 13: in dbSNP:rs6508<li>G->A at 66: in dbSNP:rs3087923</ul>									<li>rs6508</li><li>rs3087923</li>	2
Q06265	5393	<ul><li>I->V at 366: in dbSNP:rs1803183<li>S->T at 425: in dbSNP:rs1051881</ul>									<li>rs1803183</li><li>rs1051881</li>	2
Q06278	316	<ul><li>R->C at 802: in dbSNP:rs41309768<li>H->R at 1297: in dbSNP:rs3731722</ul>									<li>rs41309768</li><li>rs3731722</li>	2
Q06323	5720	<ul><li>S->N at 55: in dbSNP:rs1803830<li>T->K at 244: in dbSNP:rs14930</ul>									<li>rs1803830</li><li>rs14930</li>	2
Q06330	3516	<ul><li>K->E at 291: in dbSNP:rs1064372<li>D->H at 334: in dbSNP:rs1064376<li>R->Q at 419: in dbSNP:rs1064384<li>P->S at 425: in dbSNP:rs1064387<li>A->V at 456: in dbSNP:rs1064402</ul>									<li>rs1064402</li><li>rs1064376</li><li>rs1064384</li><li>rs1064372</li><li>rs1064387</li>	2
Q06418	7301	<ul><li>P->L at 21: in dbSNP:rs17854578<li>I->N at 346: in dbSNP:rs12148316<li>G->S at 542: in dbSNP:rs17857363<li>A->V at 815: in dbSNP:rs1042057<li>L->M at 819: in dbSNP:rs17854579<li>R->G at 824: in dbSNP:rs17857364<li>A->T at 831</ul>									<li>rs17854578</li><li>rs17854579</li><li>rs12148316</li><li>rs1042057</li><li>rs17857363</li><li>rs17857364</li>	2
Q06430	2651	<ul><li>P->R at 85: in dbSNP:rs17637756</ul>									rs17637756	2
Q06432	786	<ul><li>G->S at 196: in dbSNP:rs1799938</ul>									rs1799938	2
Q06455	862	<ul><li>R->W at 386: in a colorectal cancer sample; somatic mutation<li>R->W at 395: in a colorectal cancer sample; somatic mutation<li>A->V at 471: in a colorectal cancer sample; somatic mutation</ul>										2
Q06481	334	<ul><li>D->N at 632: in dbSNP:rs3740881</ul>									rs3740881	2
Q06495	6569	<ul><li>A->F at 48: in NPHLOP1; causes hypophosphatemic urolithiasis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect; requires 2 nucleotide substitutions, MIM: 612286<li>V->M at 147: in NPHLOP1; causes hypophosphatemic osteoporosis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect, MIM: 612286</ul>								Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]		2
Q06520	6822	<ul><li>A->P at 63: in dbSNP:rs11569681<li>A->T at 261: in dbSNP:rs11569679</ul>									<li>rs11569681</li><li>rs11569679</li>	2
Q06546	2551	<ul><li>A->V at 291: in dbSNP:rs2829897<li>E->K at 345: in dbSNP:rs2829900</ul>									<li>rs2829900</li><li>rs2829897</li>	2
Q06547	2553	<ul><li>P->A at 31: in a colorectal cancer sample; somatic mutation</ul>										2
Q06609	5888	<ul><li>R->Q at 150: in BC; familial, MIM: 114480</ul>								Breast cancer (BC) [MIM:114480]		2
Q06643	4050	<ul><li>G->E at 70: in dbSNP:rs3093554<li>S->R at 84: in dbSNP:rs4647186<li>L->F at 87: in dbSNP:rs4647187<li>A->P at 111: in dbSNP:rs3093555<li>A->D at 122: in dbSNP:rs2229699</ul>									<li>rs3093555</li><li>rs3093554</li><li>rs2229699</li><li>rs4647186</li><li>rs4647187</li>	2
Q06710	7849	<ul><li>R->H at 31: in CHNG2; loss of activity, MIM: 218700<li>Q->P at 40: in CHNG2; loss of activity, MIM: 218700<li>C->Y at 57: in CHNG2; loss of activity, MIM: 218700<li>L->R at 62: in CHNG2; loss of activity, MIM: 218700<li>F->L at 329, MIM: 218700</ul>								Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]		2
Q06730	7581	<ul><li>Q->E at 549: in dbSNP:rs2505232<li>G->R at 614: in dbSNP:rs12256916<li>D->H at 804: in dbSNP:rs10508862</ul>									<li>rs10508862</li><li>rs2505232</li><li>rs12256916</li>	2
Q06732	7582	<ul><li>R->C at 145: in dbSNP:rs210280<li>H->R at 356: in dbSNP:rs7914982</ul>									<li>rs210280</li><li>rs7914982</li>	2
Q06787	2332	<ul><li>A->S at 145: in dbSNP:rs29281<li>I->N at 304: in fragile X syndrome; alters protein folding and stability; the protein is able to bind RNA, but has reduced affinity for RNA at high salt concentrations<li>R->H at 546</ul>	protein folding	GO:0006457							rs29281	2
Q06830	5052	<ul><li>R->G at 62: in dbSNP rsrs34034070</ul>									rs34034070	2
Q07000		<ul><li>G->S at 40: in allele Cw*1511<li>H->R at 45: in allele Cw*1510<li>N->K at 90: in allele Cw*1511<li>T->A at 97: in allele Cw*1503<li>H->Y at 137: in allele Cw*1504<li>L->F at 140: in allele Cw*1505<li>L->S at 140: in allele Cw*1504</ul>										2
Q07001	1144	<ul><li>E->K at 80: in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state, MIM: 608930<li>F->L at 95: in lethal type multiple pterygium syndrome, MIM: 253290<li>P->Q at 271: in FCCMS; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs, MIM: 608930<li>Q->E at 288: in SCCMS; a benign mutation or a rare polymorphism: in dbSNP rsrs41265127, MIM: 601462<li>S->F at 289: in SCCMS; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening, MIM: 601462<li>D->E at 398: in a breast cancer sample; somatic mutation, MIM: 601462</ul>							<li>P54251</li><li>P54250</li><li>P54249</li><li>P09688</li><li>P14144</li><li>P02708</li><li>P14143</li><li>P02709</li><li>P54248</li><li>P02711</li><li>P02710</li><li>P09479</li>	<li>Lethal type multiple pterygium syndrome [MIM:253290]</li><li>Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]</li><li>Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]</li>	rs41265127	2
Q07002	5129	<ul><li>G->S at 46<li>G->R at 65<li>T->M at 164</ul>										2
Q07011	3604	<ul><li>A->T at 56: in dbSNP:rs9657963<li>K->N at 115: in dbSNP:rs9657965<li>A->D at 176: in dbSNP:rs9657979<li>E->G at 250: in a colorectal cancer sample; somatic mutation</ul>									<li>rs9657965</li><li>rs9657963</li><li>rs9657979</li>	2
Q07065	10970	<ul><li>A->T at 348: in dbSNP:rs3088113</ul>									rs3088113	2
Q07075	2028	<ul><li>R->Q at 213: in dbSNP:rs10004516<li>V->A at 218: in dbSNP:rs1126483<li>R->T at 887: in a breast cancer sample; somatic mutation</ul>									<li>rs10004516</li><li>rs1126483</li>	2
Q07092	1307	<ul><li>Q->H at 27: in dbSNP:rs2229802<li>T->K at 62: in dbSNP:rs2228552<li>R->Q at 418: in dbSNP:rs6699645<li>G->S at 745: in dbSNP:rs34770879<li>P->L at 909: in dbSNP:rs2229804</ul>									<li>rs2229804</li><li>rs2228552</li><li>rs2229802</li><li>rs34770879</li><li>rs6699645</li>	2
Q07157	7082	<ul><li>N->S at 471: in dbSNP:rs2229517<li>I->V at 790: in dbSNP:rs7179270<li>P->L at 930: in dbSNP:rs45529137<li>H->R at 1110: in dbSNP:rs45567033<li>D->A at 1347: in dbSNP:rs2291166<li>N->S at 1605: in dbSNP:rs45578638</ul>									<li>rs45529137</li><li>rs45578638</li><li>rs7179270</li><li>rs2291166</li><li>rs45567033</li><li>rs2229517</li>	2
Q07283	7062	<ul><li>L->R at 63: in dbSNP:rs2515663<li>V->L at 237: in dbSNP:rs3134814<li>R->S at 552: in dbSNP:rs6680692<li>L->M at 790: in dbSNP:rs11803731<li>L->V at 1258: in dbSNP:rs2496253<li>K->Q at 1902: in dbSNP:rs1131471</ul>									<li>rs2496253</li><li>rs3134814</li><li>rs11803731</li><li>rs2515663</li><li>rs1131471</li><li>rs6680692</li>	2
Q07343	5142	<ul><li>S->C at 703: in dbSNP:rs2227297</ul>									rs2227297	2
Q07444	3823	<ul><li>P->R at 19: in allele NKG2-E*02<li>R->S at 135: in dbSNP:rs1138437</ul>									rs1138437	2
Q07507	1805	<ul><li>V->I at 201: in dbSNP:rs6698023</ul>									rs6698023	2
Q07627	728946	<ul><li>PSCSTSGTCGSSCCQ at 12-58: in allele KAP1.6<li>Missing  at 19-110: in allele KAP1.7</ul>							Q07627			2
Q07699	6324	<ul><li>C->W at 121: in GEFS+1, MIM: 604233</ul>								Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233]		2
Q07812	581	<ul><li>G->E at 11: in plasmacytoma<li>G->R at 39: in dbSNP:rs36017265<li>G->R at 67: in T-cell acute lymphoblastic leukemia; loss of heterodimerization with Bcl-2 or Bcl-X<li>G->V at 108: in Burkitt lymphoma; loss of homodimerization</ul>							<li>P49950</li><li>P10417</li>		rs36017265	2
Q07820	4170	<ul><li>E->D at 173: in dbSNP:rs2737820<li>A->V at 227: in dbSNP:rs11580946<li>M->L at 231</ul>									<li>rs11580946</li><li>rs2737820</li>	2
Q07837	6519	<ul><li>P->Q at 128: in CSNU1, MIM: 220100<li>Y->C at 151: in CSNU1, MIM: 220100<li>R->Q at 181: in CSNU1, MIM: 220100<li>T->M at 216: in CSNU1, MIM: 220100<li>N->K at 253: in CSNU1, MIM: 220100<li>E->K at 268: in CSNU1; reduction in amino acid transport activity, MIM: 220100<li>T->A at 341: in CSNU1; reduction in amino acid transport activity, MIM: 220100<li>R->C at 362: in CSNU1, MIM: 220100<li>R->H at 362: in CSNU1, MIM: 220100<li>R->W at 365: in CSNU1, MIM: 220100<li>G->R at 398: in CSNU1, MIM: 220100<li>R->W at 452: in CSNU1, MIM: 220100<li>Y->H at 461: in CSNU1, MIM: 220100<li>M->K at 467: in CSNU1, MIM: 220100<li>M->T at 467: in CSNU1; loss of 80% of amino acid transport activity, MIM: 220100<li>G->V at 481: in CSNU1, MIM: 220100<li>E->K at 482: in CSNU1, MIM: 220100<li>P->A at 508: in CSNU1, MIM: 220100<li>Q->R at 510: in CSNU1, MIM: 220100<li>Y->H at 582: in CSNU1, MIM: 220100<li>R->T at 584: in CSNU1, MIM: 220100<li>F->S at 599: in CSNU1, MIM: 220100<li>G->E at 600: in CSNU1, MIM: 220100<li>P->T at 615: in CSNU1, MIM: 220100<li>M->I at 618: in dbSNP:rs698761, MIM: 220100<li>F->S at 648: in CSNU1, MIM: 220100<li>T->R at 652: in CSNU1, MIM: 220100<li>L->P at 678: in CSNU1, MIM: 220100</ul>	amino acid transport	GO:0006865						Cystinuria type I (CSNU1) [MIM:220100]	rs698761	2
Q07864	5426	<ul><li>P->L at 99: in dbSNP:rs5744739<li>A->V at 252: in dbSNP:rs5744751<li>R->Q at 260: in dbSNP:rs5744752<li>N->S at 336: in dbSNP:rs5744760<li>F->I at 695: in dbSNP:rs5744799<li>R->C at 1382: in dbSNP:rs5744904<li>Y->C at 1395: in dbSNP:rs5744933<li>N->S at 1396: in dbSNP:rs5744934<li>E->Q at 1399: in dbSNP:rs5744935<li>E->A at 1577: in dbSNP:rs5744948<li>A->V at 1712: in dbSNP:rs5744950<li>K->R at 1857: in dbSNP:rs5744971<li>C->Y at 1935: in dbSNP:rs5744991<li>A->V at 2040: in dbSNP:rs5745021<li>E->K at 2140: in dbSNP:rs5745066<li>R->C at 2159: in dbSNP:rs5745067<li>R->H at 2165: in dbSNP:rs5745068</ul>									<li>rs5744991</li><li>rs5744739</li><li>rs5744904</li><li>rs5745021</li><li>rs5744752</li><li>rs5744751</li><li>rs5745068</li><li>rs5744760</li><li>rs5745066</li><li>rs5745067</li><li>rs5744950</li><li>rs5744933</li><li>rs5744934</li><li>rs5744935</li><li>rs5744948</li><li>rs5744971</li><li>rs5744799</li>	2
Q07869	5465	<ul><li>R->Q at 127: in dbSNP:rs1800204<li>L->V at 162: in dbSNP:rs1800206<li>V->A at 227: in dbSNP:rs1800234<li>A->V at 268: in dbSNP:rs1042311<li>D->N at 304: in dbSNP:rs1800242<li>G->R at 395: in dbSNP:rs2229245<li>R->T at 409: in dbSNP:rs1800243</ul>									<li>rs1800234</li><li>rs1800204</li><li>rs1042311</li><li>rs2229245</li><li>rs1800206</li><li>rs1800242</li><li>rs1800243</li>	2
Q07889	6654	<ul><li>E->K at 108: in NS4, MIM: 610733<li>T->K at 266: in NS4, MIM: 610733<li>M->R at 269: in NS4, MIM: 610733<li>D->Y at 309: in NS4, MIM: 610733<li>Y->C at 337: in NS4, MIM: 610733<li>W->R at 432: in NS4, MIM: 610733<li>E->K at 433: in NS4, MIM: 610733<li>G->R at 434: in NS4, MIM: 610733<li>C->Y at 441: in NS4, MIM: 610733<li>S->R at 548: in NS4, MIM: 610733<li>L->P at 550: in NS4, MIM: 610733<li>R->G at 552: in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation, MIM: 610733<li>R->K at 552: in NS4, MIM: 610733<li>R->S at 552: in NS4, MIM: 610733<li>P->L at 655: in dbSNP rsrs56219475, MIM: 610733<li>Y->H at 702: in NS4, MIM: 610733<li>W->L at 729: in NS4; promotes constitutive RAS activation and enhances ERK activation, MIM: 610733<li>I->F at 733: in NS4, MIM: 610733<li>E->K at 846: in NS4, MIM: 610733<li>Q->R at 977, MIM: 610733<li>H->R at 1320, MIM: 610733</ul>							<li>O42785</li><li>P22655</li><li>P26224</li><li>P01132</li><li>O74650</li><li>P29075</li><li>Q91079</li><li>Q95ND4</li><li>Q9BEA0</li><li>P09048</li><li>P19739</li><li>P01133</li><li>P29323</li><li>P69611</li><li>Q00968</li><li>P69610</li><li>P01114</li><li>P07522</li>	Noonan syndrome type 4 (NS4) [MIM:610733]	rs56219475	2
Q07890	6655	<ul><li>S->N at 483: in dbSNP:rs17122201<li>H->Y at 508: in dbSNP:rs8010237<li>L->I at 672: in dbSNP:rs34139502</ul>									<li>rs17122201</li><li>rs8010237</li><li>rs34139502</li>	2
Q07912	10188	<ul><li>R->L at 34: in a lung adenocarcinoma sample; somatic mutation<li>K->R at 71: in dbSNP rsrs56036945<li>R->Q at 99: in an ovarian mucinous carcinoma sample; somatic mutation<li>R->W at 99: in dbSNP rsrs3747673<li>T->M at 152: in dbSNP rsrs56161912<li>E->K at 346: in an ovarian endometrioid cancer sample; somatic mutation<li>M->I at 409: in a gastric adenocarcinoma sample; somatic mutation<li>P->S at 507: in dbSNP rsrs35759128<li>P->L at 725: in dbSNP rsrs56260729<li>R->Q at 748: in dbSNP rsrs57872314<li>R->H at 1038: in dbSNP rsrs13433937</ul>									<li>rs13433937</li><li>rs57872314</li><li>rs56161912</li><li>rs35759128</li><li>rs3747673</li><li>rs56036945</li><li>rs56260729</li>	2
Q07954	4035	<ul><li>N->D at 166: in dbSNP:rs2306691<li>A->V at 217: in dbSNP:rs1800127<li>E->K at 869: in a colorectal cancer sample; somatic mutation<li>V->L at 2059: in dbSNP:rs2229278<li>D->N at 2080: in dbSNP:rs34577247<li>P->Q at 2900: in dbSNP:rs7397167<li>R->H at 3760: in a colorectal cancer sample; somatic mutation<li>E->G at 4536: in dbSNP:rs17357542</ul>									<li>rs1800127</li><li>rs2229278</li><li>rs17357542</li><li>rs7397167</li><li>rs34577247</li><li>rs2306691</li>	2
Q07955	6426	<ul><li>P->S at 89: in a breast cancer sample; somatic mutation</ul>										2
Q07960	392	<ul><li>R->C at 369: in dbSNP:rs11822837</ul>									rs11822837	2
Q07973	1591	<ul><li>R->Q at 157: in dbSNP:rs35051736<li>M->T at 374: in dbSNP:rs6022990<li>L->S at 409: in dbSNP:rs6068812</ul>									<li>rs6068812</li><li>rs6022990</li><li>rs35051736</li>	2
Q08043	89	<ul><li>R->Q at 523: in dbSNP:rs1671064<li>C->R at 628: in dbSNP:rs618838<li>E->A at 635: in dbSNP:rs2229456<li>Q->R at 776: in dbSNP:rs540874</ul>									<li>rs618838</li><li>rs1671064</li><li>rs2229456</li><li>rs540874</li>	2
Q08050	2305	<ul><li>A->E at 402: in dbSNP:rs28990715<li>F->L at 450: in dbSNP:rs28919868<li>S->P at 643: in dbSNP:rs3742076<li>P->R at 669: in dbSNP:rs28919869<li>P->L at 673: in dbSNP:rs28919870</ul>									<li>rs28919869</li><li>rs28919868</li><li>rs28990715</li><li>rs28919870</li><li>rs3742076</li>	2
Q08117	166	<ul><li>A->E at 168: in dbSNP:rs1802578</ul>									rs1802578	2
Q08170	6429	<ul><li>E->D at 253: in dbSNP:rs2230679<li>G->A at 338: in dbSNP:rs2230677<li>G->S at 356: in dbSNP:rs2230678<li>Q->E at 438: in dbSNP:rs1049928</ul>									<li>rs2230679</li><li>rs1049928</li><li>rs2230678</li><li>rs2230677</li>	2
Q08174	5097	<ul><li>L->F at 15: in dbSNP:rs12517385<li>H->P at 25: in dbSNP:rs12515587<li>A->T at 514: in dbSNP:rs3822357</ul>									<li>rs3822357</li><li>rs12515587</li><li>rs12517385</li>	2
Q08188	7053	<ul><li>K->T at 13: in dbSNP:rs214803<li>I->L at 163: in dbSNP:rs6048066<li>S->N at 249: in dbSNP:rs214814<li>K->R at 562: in dbSNP:rs1042617<li>R->G at 654: in dbSNP:rs214830<li>L->M at 687: in dbSNP:rs45581032</ul>									<li>rs45581032</li><li>rs6048066</li><li>rs1042617</li><li>rs214830</li><li>rs214814</li><li>rs214803</li>	2
Q08211	1660	<ul><li>I->V at 894: in dbSNP:rs1049264</ul>									rs1049264	2
Q08257	1429	<ul><li>P->S at 66: in dbSNP:rs11551729<li>I->V at 176: in dbSNP:rs3819946<li>E->K at 183: in dbSNP:rs17095822</ul>									<li>rs11551729</li><li>rs17095822</li><li>rs3819946</li>	2
Q08289	783	<ul><li>A->G at 99: in a colorectal cancer sample; somatic mutation<li>S->L at 535: in BRS4; loss of function, MIM: 611876</ul>							P47751	Brugada syndrome type 4 (BRS4) [MIM:611876]		2
Q08334	3588	<ul><li>K->E at 47: associated with susceptibility to HBV infection; higher cell surface levels; dbSNP:rs2834167</ul>					cell surface	GO:0009928,GO:0009986	P29243		rs2834167	2
Q08345	780	<ul><li>S->G at 17: in dbSNP rsrs55901302<li>V->A at 100: in dbSNP rsrs34544756<li>R->Q at 169: in dbSNP rsrs55980643<li>A->D at 170: in dbSNP rsrs56231803<li>R->W at 306: in dbSNP rsrs56024191<li>S->A at 496: in a lung squamous cell carcinoma sample; somatic mutation<li>L->V at 833: in dbSNP:rs2524235</ul>									<li>rs55901302</li><li>rs56231803</li><li>rs55980643</li><li>rs34544756</li><li>rs2524235</li><li>rs56024191</li>	2
Q08378	2802	<ul><li>G->E at 70: in dbSNP:rs2291256<li>P->L at 264: in dbSNP:rs3741486<li>K->R at 1185: in dbSNP:rs2291260</ul>									<li>rs2291256</li><li>rs3741486</li><li>rs2291260</li>	2
Q08379	2801	<ul><li>R->G at 890: in dbSNP:rs2240961</ul>									rs2240961	2
Q08397	4016	<ul><li>R->L at 141: associated with risk of developing XFS resulting in glaucoma; in combined case-control samples from Iceland and Sweden; dbSNP:rs1048661<li>G->D at 153: associated with risk of developing XFS resulting in glaucoma; in combined case-control samples from Iceland and Sweden; dbSNP:rs3825942</ul>									<li>rs1048661</li><li>rs3825942</li>	2
Q08426	1962	<ul><li>V->G at 40: in dbSNP:rs1062551<li>I->R at 41: in dbSNP:rs1062552<li>T->I at 75: in dbSNP:rs1062553<li>A->T at 274: in dbSNP:rs2302819<li>A->G at 325: in dbSNP:rs1062555<li>K->T at 598: in dbSNP:rs1042437<li>T->P at 606: in dbSNP:rs1042438<li>Q->K at 685: in dbSNP:rs11919970<li>L->S at 715: in dbSNP:rs11927618</ul>									<li>rs2302819</li><li>rs11927618</li><li>rs1062551</li><li>rs1062552</li><li>rs1062553</li><li>rs11919970</li><li>rs1062555</li><li>rs1042437</li><li>rs1042438</li>	2
Q08431	4240	<ul><li>R->S at 3: in dbSNP:rs4945<li>M->L at 76: in dbSNP:rs1878326</ul>									<li>rs4945</li><li>rs1878326</li>	2
Q08462	108	<ul><li>V->L at 147: in dbSNP:rs13166360<li>V->I at 163: in dbSNP:rs34043481</ul>									<li>rs34043481</li><li>rs13166360</li>	2
Q08477	4051	<ul><li>H->Q at 96: in dbSNP:rs34923393<li>Y->C at 106: in dbSNP:rs35888783<li>A->D at 269: in dbSNP:rs1805040<li>V->I at 270: in dbSNP rsrs28371536<li>I->T at 271: in dbSNP rsrs28371479</ul>									<li>rs28371536</li><li>rs35888783</li><li>rs28371479</li><li>rs1805040</li><li>rs34923393</li>	2
Q08493	5143	<ul><li>S->L at 131: in dbSNP:rs10413646<li>R->Q at 289: in dbSNP:rs34503849<li>R->Q at 344: in dbSNP:rs2229228</ul>									<li>rs2229228</li><li>rs10413646</li><li>rs34503849</li>	2
Q08648	10407	<ul><li>R->Q at 77: in dbSNP:rs2853658<li>D->G at 89: in dbSNP:rs2738035</ul>									<li>rs2738035</li><li>rs2853658</li>	2
Q08708	10871	<ul><li>T->I at 71: in dbSNP:rs11870245</ul>									rs11870245	2
Q08752	5481	<ul><li>R->C at 49: in dbSNP:rs2070631<li>D->V at 196: in dbSNP:rs2230222<li>L->I at 302: in dbSNP rsrs9410<li>G->E at 335: in dbSNP:rs17843956</ul>									<li>rs9410</li><li>rs2070631</li><li>rs2230222</li><li>rs17843956</li>	2
Q08828	107	<ul><li>P->L at 456: in dbSNP:rs12721473<li>A->T at 940: in dbSNP:rs45444695<li>V->M at 984: in dbSNP:rs2293106</ul>									<li>rs12721473</li><li>rs45444695</li><li>rs2293106</li>	2
Q08830	2267	<ul><li>T->I at 15: in dbSNP:rs484373<li>I->V at 72: in dbSNP:rs3739406<li>P->L at 105: in dbSNP:rs2653406<li>Y->H at 111: in dbSNP:rs34019703<li>M->V at 114: in dbSNP:rs35311020<li>T->S at 121: in dbSNP:rs34239530<li>Y->F at 140: in dbSNP:rs35431851<li>W->L at 256: in dbSNP:rs2653414</ul>									<li>rs34019703</li><li>rs35311020</li><li>rs2653406</li><li>rs35431851</li><li>rs34239530</li><li>rs484373</li><li>rs3739406</li><li>rs2653414</li>	2
Q08881	3702	<ul><li>R->K at 19: in a metastatic melanoma sample; somatic mutation<li>P->L at 23: in a metastatic melanoma sample; somatic mutation<li>R->Q at 193: in dbSNP:rs17054374<li>R->Q at 451: in a gastric adenocarcinoma sample; somatic mutation<li>R->W at 581: in dbSNP:rs34482255<li>V->I at 587: in dbSNP rsrs56005928</ul>									<li>rs17054374</li><li>rs56005928</li><li>rs34482255</li>	2
Q08945	6749	<ul><li>L->V at 225: in dbSNP:rs768436<li>E->Q at 458: in dbSNP:rs11540304</ul>									<li>rs768436</li><li>rs11540304</li>	2
Q08999	5934	<ul><li>Y->C at 210: in dbSNP:rs17800727</ul>									rs17800727	2
Q08AD1		<ul><li>I->L at 361: in a colorectal cancer sample; somatic mutation<li>P->L at 958: in dbSNP:rs3753952<li>P->R at 1028: in dbSNP:rs6674599</ul>									<li>rs3753952</li><li>rs6674599</li>	2
Q08AF3	162394	<ul><li>V->L at 754: in dbSNP:rs16970806<li>P->L at 787: in dbSNP:rs11651240<li>A->V at 797: in dbSNP:rs2291189</ul>									<li>rs2291189</li><li>rs11651240</li><li>rs16970806</li>	2
Q08AG7	440145	<ul><li>S->G at 5: in dbSNP:rs1465896</ul>									rs1465896	2
Q08AH1	116285	<ul><li>I->M at 272: in dbSNP:rs16970511<li>I->V at 479: in dbSNP:rs8056709<li>I->T at 515: in dbSNP:rs16970453</ul>									<li>rs16970453</li><li>rs8056709</li><li>rs16970511</li>	2
Q08AH3	123876	<ul><li>S->L at 513: in dbSNP:rs1133607<li>A->T at 561: in dbSNP:rs1054977</ul>									<li>rs1133607</li><li>rs1054977</li>	2
Q08AI6	151258	<ul><li>A->T at 194: in dbSNP:rs4564790</ul>									rs4564790	2
Q08AI8	79919	<ul><li>A->T at 170: in dbSNP:rs4359646<li>L->P at 309: in dbSNP:rs6707568</ul>									<li>rs6707568</li><li>rs4359646</li>	2
Q08AN1		<ul><li>H->R at 451: in dbSNP:rs3764537</ul>									rs3764537	2
Q08ER8		<ul><li>P->A at 55: in dbSNP:rs6510057<li>R->Q at 107: in dbSNP:rs8100491<li>H->L at 246: in dbSNP:rs1968090<li>E->V at 287: in dbSNP:rs35238720<li>V->D at 439: in dbSNP:rs10411486<li>M->V at 573: in dbSNP:rs10410649</ul>									<li>rs6510057</li><li>rs10411486</li><li>rs35238720</li><li>rs1968090</li><li>rs8100491</li><li>rs10410649</li>	2
Q08J23	54888	<ul><li>V->I at 627: in dbSNP:rs2303708</ul>									rs2303708	2
Q09013	1760	<ul><li>L->V at 438: in a lung small cell carcinoma sample; somatic mutation</ul>										2
Q09428	6833	<ul><li>G->R at 7: in HHF1, MIM: 256450<li>V->D at 21: in HHF1, MIM: 256450<li>F->S at 27: in HHF1, MIM: 256450<li>G->E at 70: in HHF1; altered intracellular trafficking, MIM: 256450<li>R->Q at 74: in HHF1, MIM: 256450<li>R->W at 74: in HHF1, MIM: 256450<li>V->A at 86: in PNDM, MIM: 606176<li>L->V at 104: in dbSNP:rs10400391, MIM: 606176<li>G->R at 111: in HHF1; altered intracellular trafficking, MIM: 256450<li>A->P at 116: in HHF1, MIM: 256450<li>H->Q at 125: in HHF1; mild; dbSNP:rs60637558, MIM: 256450<li>F->L at 132: in PNDM; with neurologic features; reduces the sensitivity of the K, MIM: 606176<li>V->D at 187: in HHF1; severe; high prevalence in Finland; loss of channel activity, MIM: 256450<li>N->S at 188: in HHF1; severe, MIM: 256450<li>L->R at 213: in PNDM, MIM: 606176<li>M->R at 233: in HHF1, MIM: 256450<li>R->Q at 275, MIM: 256450<li>D->N at 310: in HHF1, MIM: 256450<li>N->D at 406: in HHF1, MIM: 256450<li>C->R at 418: in HHF1, MIM: 256450<li>C->R at 435: in TNDM2, MIM: 610374<li>R->Q at 495: in HHF1, MIM: 256450<li>E->K at 501: in HHF1, MIM: 256450<li>L->P at 503: in HHF1, MIM: 256450<li>L->P at 508: in HHF1, MIM: 256450<li>P->R at 551: in HHF1, MIM: 256450<li>V->M at 560: in dbSNP:rs4148619, MIM: 256450<li>L->V at 582: in TNDM2, MIM: 610374<li>F->L at 591: in HHF1, MIM: 256450<li>R->C at 620: in HHF1; dbSNP:rs58241708, MIM: 256450<li>D->N at 673, MIM: 256450<li>F->S at 686: in HHF1, MIM: 256450<li>G->V at 716: in HHF1, MIM: 256450<li>K->T at 719: in HHF1, MIM: 256450<li>D->N at 810, MIM: 256450<li>R->C at 834, MIM: 256450<li>R->G at 841: in HHF1, MIM: 256450<li>K->T at 889: in HHF1, MIM: 256450<li>S->F at 956: in HHF1, MIM: 256450<li>H->Y at 1023: in TNDM2; overactive channel, MIM: 610374<li>T->P at 1130: in HHF1, MIM: 256450<li>T->M at 1138: in HHF1, MIM: 256450<li>L->R at 1147: in HHF1, MIM: 256450<li>R->Q at 1182: in TNDM2, MIM: 610374<li>R->Q at 1214: in HHF1; severe, MIM: 256450<li>R->W at 1214: in HHF1, MIM: 256450<li>N->K at 1295: in HHF1, MIM: 256450<li>K->N at 1336: in HHF1, MIM: 256450<li>G->E at 1342: in HHF1; altered intracellular trafficking, MIM: 256450<li>L->Q at 1349: in HHF1, MIM: 256450<li>R->H at 1352: in LIH; partially impairs ATP-dependent potassium channel function, MIM: 240800<li>R->P at 1352: in HHF1; dbSNP:rs28936370, MIM: 256450<li>V->G at 1360, MIM: 256450<li>V->M at 1360: in HHF1, MIM: 256450<li>S->A at 1369: common polymorphism; dbSNP:rs757110, MIM: 256450<li>G->R at 1378: in HHF1, MIM: 256450<li>R->C at 1379: in TNDM2, MIM: 610374<li>G->S at 1381: in HHF1, MIM: 256450<li>K->Q at 1384: in HHF1, MIM: 256450<li>Missing  at 1385: in HHF1; does not alter surface expression but channels are not functional, MIM: 256450<li>S->F at 1386: in HHF1, MIM: 256450<li>Missing  at 1387: in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression, MIM: 256450<li>R->H at 1393: in HHF1; severe; loss of channel activity, MIM: 256450<li>G->R at 1400: in HHF1, MIM: 256450<li>R->H at 1418: in HHF1; altered intracellular trafficking, MIM: 256450<li>R->C at 1420: in HHF1; modest impairment of channel function; dbSNP:rs28938469, MIM: 256450<li>I->V at 1424: in PNDM; overactive channel, MIM: 606176<li>R->Q at 1436: in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane, MIM: 256450<li>L->P at 1450: in HHF1, MIM: 256450<li>A->T at 1457: in HHF1, MIM: 256450<li>D->H at 1471: in HHF1, MIM: 256450<li>D->N at 1471: in HHF1, MIM: 256450<li>G->R at 1478: in HHF1; channels insensitive to metabolic inhibition and to activation by ADP, MIM: 256450<li>R->K at 1486: in HHF1, MIM: 256450<li>R->Q at 1493: in HHF1, MIM: 256450<li>R->W at 1493: in HHF1; altered intracellular trafficking; dbSNP:rs28936371, MIM: 256450<li>E->K at 1506: in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP, MIM: 256450<li>A->AAS at 1507: in HHF1, MIM: 256450<li>L->P at 1543: in HHF1; reduced channels surface expression and response to ADP, MIM: 256450<li>V->D at 1550: in HHF1, MIM: 256450<li>L->V at 1551: in HHF1, MIM: 256450<li>V->I at 1572: in dbSNP:rs8192690, MIM: 256450</ul>	transport	GO:0006810			<li>intracellular</li><li>membrane</li>	<li>GO:0005622</li><li>GO:0016020</li>	<li>Q8SQP4</li><li>Q8NIG3</li><li>Q757K0</li><li>P02783</li><li>P02309</li>	<li>Leucine-induced hypoglycemia (LIH) [MIM:240800]</li><li>Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]</li><li>Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]</li><li>Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]</li>	<li>rs28938469</li><li>rs757110</li><li>rs10400391</li><li>rs58241708</li><li>rs28936370</li><li>rs60637558</li><li>rs28936371</li><li>rs8192690</li><li>rs4148619</li>	2
Q09470	3736	<ul><li>V->F at 174: in EA1, MIM: 160120<li>I->R at 177: in EA1, MIM: 160120<li>F->C at 184: in EA1; alters voltage dependence and kinetics of activation though not of C-type inactivation, MIM: 160120<li>R->H at 204: in dbSNP:rs2229000, MIM: 160120<li>T->A at 226: in EA1, MIM: 160120<li>T->K at 226: in MK1; induces a reduced efflux of potassium ions during depolarization which results in increased muscle cell activity; coexpression studies of the mutant protein with the wild-type protein produces significantly reduced currents suggesting a severe effect of the mutation; dbSNP:rs28933383, MIM: 160120<li>T->M at 226: in EA1, MIM: 160120<li>T->R at 226: in EA1; yields currents with a largely reduced amplitude: in dbSNP rsrs28933383, MIM: 160120<li>R->S at 239: in EA1, MIM: 160120<li>A->P at 242: in MK1; 10% reduction of mean peak current amplitudes compared to wil-dtype; mutant and wild-type expression together is consistent with a loss-of-function effect of the mutation; dbSNP:rs28933381, MIM: 160120<li>P->H at 244: in MK1; no difference between the mutation compared to wild-type; although coexpression experiments with wild-type RNA yielded a peak current amplitude that was 200% of wildt-ype alone; coexpression of the mutant and wild-type genes had only a small effect on current activation parameters; dbSNP:rs28933382, MIM: 160120<li>F->I at 249: in EA1, MIM: 160120<li>E->D at 325: in EA1; results in non-functional homomeric channels, MIM: 160120<li>L->I at 329: in EA1, MIM: 160120<li>S->I at 342: in EA1; phenotype without myokymia, MIM: 160120<li>I->V at 400: in RNA edited version, MIM: 160120<li>V->I at 404: in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters, MIM: 160120<li>V->A at 408: in EA1; channels have voltage dependence similar to that of wild-type channels but with faster kinetics and increased C-type inactivation, MIM: 160120</ul>							<li>P21741</li><li>Q9S7U9</li><li>Q07108</li>	<li>Myokymia isolated type 1 (MK1) [MIM:160120]</li><li>Episodic ataxia type 1 (EA1) [MIM:160120]</li>	<li>rs28933383</li><li>rs28933381</li><li>rs28933382</li><li>rs2229000</li>	2
Q09472	2033	<ul><li>L->P at 827: in breast cancer<li>I->V at 997: in dbSNP:rs20551<li>E->G at 1013: in breast cancer<li>S->Y at 1650: in pancreatic cancer<li>T->S at 2174: in dbSNP:rs5758252<li>P->Q at 2221: in colorectal cancer; dbSNP:rs28937578<li>Q->P at 2223: in dbSNP:rs1046088</ul>									<li>rs28937578</li><li>rs5758252</li><li>rs1046088</li><li>rs20551</li>	2
Q09666	79026	<ul><li>G->V at 962: in dbSNP:rs664761<li>A->T at 2114: in dbSNP:rs1298288<li>P->L at 2439: in dbSNP:rs11824660<li>Q->K at 3003: in dbSNP:rs566144<li>V->I at 3190: in dbSNP:rs11231129<li>S->P at 3724: in dbSNP:rs11231128<li>G->D at 4561: in dbSNP:rs12795508<li>M->V at 4611: in dbSNP:rs12801302<li>I->V at 4613: in dbSNP:rs12801153<li>D->G at 4631: in dbSNP:rs12801123<li>T->A at 5415: in dbSNP:rs11231126</ul>									<li>rs11231129</li><li>rs11231128</li><li>rs12801123</li><li>rs12795508</li><li>rs12801153</li><li>rs12801302</li><li>rs566144</li><li>rs664761</li><li>rs1298288</li><li>rs11231126</li><li>rs11824660</li>	2
Q09FC8	55786	<ul><li>H->P at 196: in dbSNP:rs16984466<li>I->L at 229: in dbSNP:rs1054485<li>I->V at 233: in dbSNP:rs1133327<li>Y->C at 241: in dbSNP:rs1560099<li>N->D at 463: in dbSNP:rs10410030</ul>									<li>rs16984466</li><li>rs1133327</li><li>rs1054485</li><li>rs10410030</li><li>rs1560099</li>	2
Q09MP3	729475	<ul><li>V->L at 876: in dbSNP:rs17380212<li>R->H at 976: in dbSNP:rs17314548<li>G->D at 1037: in dbSNP:rs834514</ul>									<li>rs17380212</li><li>rs834514</li><li>rs17314548</li>	2
Q0D2J5		<ul><li>Y->H at 327: in dbSNP:rs7254529</ul>									rs7254529	2
Q0D2K0	348938	<ul><li>G->V at 142: in ARCII, MIM: 612281<li>A->D at 176: in ARCII; frequent mutation, MIM: 612281<li>S->F at 208: in ARCII, MIM: 612281<li>G->R at 230: in ARCII, MIM: 612281<li>H->N at 237: in ARCII, MIM: 612281<li>G->R at 297: in ARCII, MIM: 612281</ul>								Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]		2
Q0D2K5		<ul><li>G->D at 59: in dbSNP:rs603638<li>P->L at 157: in dbSNP:rs678690</ul>									<li>rs678690</li><li>rs603638</li>	2
Q0IIN9		<ul><li>L->I at 84: in dbSNP:rs2294043</ul>									rs2294043	2
Q0JRZ9	115548	<ul><li>M->V at 371: in dbSNP:rs185435</ul>									rs185435	2
Q0P611		<ul><li>T->A at 7: in dbSNP:rs10159161<li>T->S at 7: in dbSNP:rs10157977<li>I->V at 117: in dbSNP:rs12076164</ul>									<li>rs10159161</li><li>rs12076164</li><li>rs10157977</li>	2
Q0P641	389073	<ul><li>R->H at 82: in dbSNP:rs11898181<li>R->C at 130: in dbSNP:rs6435421<li>S->G at 152: in dbSNP:rs10804166</ul>									<li>rs6435421</li><li>rs11898181</li><li>rs10804166</li>	2
Q0P670	201243	<ul><li>S->A at 108: in dbSNP:rs13290<li>Q->R at 376: in dbSNP:rs3892554</ul>									<li>rs3892554</li><li>rs13290</li>	2
Q0P6D6	80071	<ul><li>G->D at 529: in dbSNP:rs4936966<li>C->R at 813: in dbSNP:rs7107487</ul>									<li>rs4936966</li><li>rs7107487</li>	2
Q0VAF6	342898	<ul><li>L->M at 111: in dbSNP:rs2082416</ul>									rs2082416	2
Q0VAK6	56203	<ul><li>I->T at 263: in dbSNP:rs9835034<li>K->M at 438: in dbSNP:rs6810145<li>A->V at 560: in dbSNP:rs17005363</ul>									<li>rs17005363</li><li>rs6810145</li><li>rs9835034</li>	2
Q0VAR9	92070	<ul><li>G->S at 19: in dbSNP:rs1732115<li>Y->C at 173: in dbSNP:rs1564508</ul>									<li>rs1564508</li><li>rs1732115</li>	2
Q0VD83	55911	<ul><li>A->P at 419: associated with susceptibility to hypercholesterolemia; dbSNP:rs180743</ul>										2
Q0VDD7	79173	<ul><li>G->R at 267: in dbSNP:rs2305775<li>Q->R at 500: in dbSNP:rs3803892</ul>									<li>rs3803892</li><li>rs2305775</li>	2
Q0VDD8		<ul><li>T->S at 220: in dbSNP:rs41267347<li>P->L at 274: in dbSNP:rs41267349</ul>									<li>rs41267347</li><li>rs41267349</li>	2
Q0VDF9	51182	<ul><li>A->V at 85: in a breast cancer sample; somatic mutation</ul>										2
Q0VDG4	79634	<ul><li>D->N at 18: in dbSNP:rs10497410<li>V->A at 179: in dbSNP:rs6716400</ul>									<li>rs10497410</li><li>rs6716400</li>	2
Q0VF96	84952	<ul><li>P->T at 380: in dbSNP:rs1280395<li>S->F at 459: in dbSNP:rs7182648<li>A->T at 511: in dbSNP:rs1280396<li>L->V at 1101: in dbSNP:rs1620402<li>M->V at 1270: in dbSNP:rs16977594</ul>									<li>rs1280396</li><li>rs1280395</li><li>rs7182648</li><li>rs1620402</li><li>rs16977594</li>	2
Q0VG06	80233	<ul><li>L->P at 660: in dbSNP:rs11552304<li>A->T at 817: in dbSNP:rs14422</ul>									<li>rs14422</li><li>rs11552304</li>	2
Q0VG73	152225	<ul><li>S->R at 19: in dbSNP:rs12629299<li>I->M at 63: in dbSNP:rs10936873</ul>									<li>rs10936873</li><li>rs12629299</li>	2
Q0VG99		<ul><li>A->G at 66<li>L->V at 125: in an STD patient; inactive<li>S->F at 220</ul>							<li>P52842</li><li>Q06520</li><li>P50234</li>			2
Q0VGE8		<ul><li>N->I at 80: in dbSNP:rs12459008<li>L->S at 162: in dbSNP:rs11084210</ul>									<li>rs12459008</li><li>rs11084210</li>	2
Q0ZGT2	91624	<ul><li>G->R at 245: in dbSNP:rs1166698</ul>									rs1166698	2
Q0ZLH3	494513	<ul><li>T->I at 54: in DFNB59, MIM: 610220<li>R->W at 183: in DFNB59, MIM: 610220<li>R->C at 265: in dbSNP:rs17304212, MIM: 610220</ul>							Q0ZLH3	Non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59) [MIM:610220]	rs17304212	2
Q10469	4247	<ul><li>H->R at 262: in CDG2A, MIM: 212066<li>S->F at 290: in CDG2A, MIM: 212066<li>N->D at 318: in CDG2A, MIM: 212066</ul>								Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]		2
Q10471	2590	<ul><li>R->H at 245: in dbSNP:rs1923950<li>V->M at 554: in dbSNP:rs2273970</ul>									<li>rs1923950</li><li>rs2273970</li>	2
Q10472	2589	<ul><li>Y->D at 414: in dbSNP:rs34304568</ul>									rs34304568	2
Q10571	4330	<ul><li>Q->H at 382: in dbSNP:rs45589338</ul>									rs45589338	2
Q10588	683	<ul><li>A->V at 77: in dbSNP:rs2302466<li>I->V at 101: in dbSNP:rs6840615<li>R->H at 125: in dbSNP:rs2302465<li>R->Q at 145: in dbSNP:rs2302464</ul>									<li>rs2302466</li><li>rs6840615</li><li>rs2302465</li><li>rs2302464</li>	2
Q10589	684	<ul><li>V->F at 143: in dbSNP:rs1804402</ul>									rs1804402	2
Q10981	2524	<ul><li>I->V at 25: polymorphism found in Xhosa population; dbSNP:rs1800021<li>R->C at 138: polymorphism found in Xhosa population; dbSNP:rs1800022<li>I->F at 140: in allele Sej; non-secretor phenotype; dbSNP:rs1047781<li>D->N at 172: polymorphism found in Xhosa population; dbSNP:rs1800025<li>G->S at 258: in dbSNP:rs602662</ul>									<li>rs602662</li><li>rs1047781</li><li>rs1800021</li><li>rs1800025</li><li>rs1800022</li>	2
Q11128	2527	<ul><li>P->L at 187: in dbSNP:rs778970</ul>									rs778970	2
Q11201	6482	<ul><li>N->S at 111: in dbSNP:rs45523131</ul>									rs45523131	2
Q12765	9805	<ul><li>Q->R at 338: in dbSNP:rs17324153</ul>									rs17324153	2
Q12767	9772	<ul><li>I->T at 1040: in dbSNP:rs8073809</ul>									rs8073809	2
Q12768	9897	<ul><li>N->D at 471: in SPG8, MIM: 603563<li>L->F at 619: in SPG8; fails to rescue the curly phenotype in a zebrafish model, MIM: 603563<li>V->F at 626: in SPG8; fails to rescue the curly phenotype in a zebrafish model, MIM: 603563</ul>								Autosomal dominant spastic paraplegia type 8 (SPG8) [MIM:603563]		2
Q12770	22937	<ul><li>V->I at 798: in dbSNP rsrs12487736</ul>									rs12487736	2
Q12772	6721	<ul><li>A->S at 273: in a breast cancer sample; somatic mutation<li>N->K at 347: in a breast cancer sample; somatic mutation<li>M->L at 536: in dbSNP:rs17002714<li>G->A at 595: in dbSNP:rs2228314<li>V->M at 623: in dbSNP:rs2229440<li>R->S at 860: in dbSNP:rs2228313</ul>									<li>rs2228313</li><li>rs2229440</li><li>rs2228314</li><li>rs17002714</li>	2
Q12788	10607	<ul><li>Q->R at 293: in dbSNP:rs2230086<li>E->Q at 294: in dbSNP:rs8052713<li>S->P at 457: in dbSNP:rs17605</ul>									<li>rs8052713</li><li>rs17605</li><li>rs2230086</li>	2
Q12789	2975	<ul><li>Q->E at 1889: in dbSNP:rs35233306<li>F->S at 1959: in dbSNP:rs12919017<li>E->K at 2077: in dbSNP:rs2228248</ul>									<li>rs2228248</li><li>rs35233306</li><li>rs12919017</li>	2
Q12791	3778	<ul><li>D->G at 434: in GEPD; may have a synergistic effect with ethanol in the triggering of symptoms, MIM: 609446</ul>								Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]		2
Q12794	3373	<ul><li>E->K at 268: in MPS9, MIM: 601492</ul>								Mucopolysaccharidosis type 9 (MPS9) [MIM:601492]		2
Q12796	10957	<ul><li>P->L at 252: in dbSNP:rs2231277</ul>									rs2231277	2
Q12797	444	<ul><li>R->M at 354: in dbSNP:rs6995412</ul>									rs6995412	2
Q12802	11214	<ul><li>M->T at 452: in dbSNP:rs2061821<li>W->R at 494: in dbSNP:rs2061822<li>K->Q at 526: in dbSNP:rs34434221<li>R->C at 574: in dbSNP:rs2061824<li>G->V at 624: in dbSNP:rs745191<li>E->K at 689: in dbSNP:rs7177107<li>V->A at 845: in dbSNP:rs4075256<li>V->M at 897: in dbSNP:rs4075254<li>P->A at 1062: in dbSNP:rs4843074<li>D->N at 1086: in dbSNP:rs4843075<li>M->T at 1216: in dbSNP:rs7162168<li>S->G at 1525: in dbSNP:rs35079107<li>G->S at 2457: in dbSNP:rs2241268<li>A->T at 2801: in dbSNP:rs2614668</ul>									<li>rs2241268</li><li>rs745191</li><li>rs4843075</li><li>rs35079107</li><li>rs4843074</li><li>rs2614668</li><li>rs2061821</li><li>rs2061824</li><li>rs2061822</li><li>rs4075254</li><li>rs7177107</li><li>rs4075256</li><li>rs7162168</li><li>rs34434221</li>	2
Q12805	2202	<ul><li>I->F at 220<li>R->W at 345: in DHRD, MIM: 126600</ul>								Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]		2
Q12809	3757	<ul><li>F->L at 29: in LQT2, MIM: 152427<li>N->T at 33: in LQT2, MIM: 152427<li>G->V at 47: in LQT2, MIM: 152427<li>G->R at 53: in LQT2, MIM: 152427<li>R->Q at 56: in LQT2, MIM: 152427<li>T->P at 65: in LQT2: in dbSNP rsrs28933095, MIM: 152427<li>C->G at 66: in LQT2, MIM: 152427<li>H->R at 70: in LQT2, MIM: 152427<li>P->Q at 72: in LQT2, MIM: 152427<li>A->P at 78: in LQT2, MIM: 152427<li>L->R at 86: in LQT2, MIM: 152427<li>R->G at 100: in LQT2; digenic; associated with the Asn-1819 mutation on the SCN5A gene, MIM: 152427<li>R->W at 176: in LQT2; dbSNP:rs36210422, MIM: 152427<li>R->Q at 181: in dbSNP:rs41308954, MIM: 152427<li>G->GGAG at 189, MIM: 152427<li>R->C at 312: in LQT2, MIM: 152427<li>P->S at 347: in LQT2, MIM: 152427<li>T->M at 436: in LQT2, MIM: 152427<li>P->L at 451: in LQT2, MIM: 152427<li>N->D at 470: in LQT2, MIM: 152427<li>T->I at 474: in LQT2, MIM: 152427<li>A->T at 490: in long QT syndrome; bradycardia-induced; dbSNP:rs28928905, MIM: 152427<li>Missing  at 500-508: in LQT2, MIM: 152427<li>K->N at 525: in long QT syndrome 2/3; located on the same allele as Pro-528, MIM: 152427<li>R->P at 528: in long QT syndrome 2/3; located on the same allele as Asn-525, MIM: 152427<li>R->Q at 531: in LQT2, MIM: 152427<li>R->C at 534: in LQT2, MIM: 152427<li>L->S at 552: in LQT2, MIM: 152427<li>A->P at 558: in LQT2, MIM: 152427<li>A->T at 561: in LQT2, MIM: 152427<li>A->V at 561: in LQT2, MIM: 152427<li>L->P at 564: in LQT2, MIM: 152427<li>Y->H at 569: in LQT2, MIM: 152427<li>G->C at 572: in LQT2, MIM: 152427<li>G->R at 572: in LQT2; severe form, MIM: 152427<li>R->C at 582: in LQT2, MIM: 152427<li>G->S at 584: in LQT2, MIM: 152427<li>W->C at 585: in LQT2, MIM: 152427<li>N->D at 588: in LQT2, MIM: 152427<li>N->K at 588: in SQT1, MIM: 609620<li>I->R at 593: in LQT2: in dbSNP rsrs28928904, MIM: 152427<li>I->T at 593: in LQT2, MIM: 152427<li>G->S at 601: in LQT2, MIM: 152427<li>G->S at 604: in LQT2, MIM: 152427<li>D->N at 609: in LQT2, MIM: 152427<li>Y->H at 611: in LQT2, MIM: 152427<li>V->L at 612: in LQT2, MIM: 152427<li>T->M at 613: in LQT2, MIM: 152427<li>A->V at 614: in LQT2, MIM: 152427<li>L->V at 615: in LQT2, MIM: 152427<li>G->S at 626: in LQT2, MIM: 152427<li>F->L at 627: in LQT2, MIM: 152427<li>G->S at 628: in LQT2, MIM: 152427<li>N->D at 629: in LQT2, MIM: 152427<li>N->K at 629: in LQT2, MIM: 152427<li>N->S at 629: in LQT2, MIM: 152427<li>V->A at 630: in LQT2, MIM: 152427<li>V->L at 630: in LQT2, MIM: 152427<li>P->S at 632: in LQT2, MIM: 152427<li>N->S at 633: in LQT2, MIM: 152427<li>E->K at 637: in LQT2, MIM: 152427<li>K->E at 638: in LQT2, MIM: 152427<li>Missing  at 638: in LQT2, MIM: 152427<li>F->L at 640: in LQT2, MIM: 152427<li>M->L at 645: in LQT2, MIM: 152427<li>R->C at 696: in long QT syndrome 2/3, MIM: 152427<li>R->Q at 752: in LQT2, MIM: 152427<li>R->W at 752: in LQT2, MIM: 152427<li>R->W at 784: predisposes to LQT2 and torsades de pointes while taking the drug amiodarone; in vitro studies confirmed a significant reduction in potassium currents; the ECG abnormalities reversed on drug withdrawal: in dbSNP rsrs12720441, MIM: 152427<li>F->C at 805: in LQT2, MIM: 152427<li>F->S at 805: in LQT2, MIM: 152427<li>S->L at 818: in LQT2, MIM: 152427<li>V->M at 822: in LQT2, MIM: 152427<li>R->W at 823: in LQT2, MIM: 152427<li>N->I at 861: in LQT2, MIM: 152427<li>K->T at 897: in dbSNP:rs1805123, MIM: 152427<li>P->L at 917: in LQT2, MIM: 152427<li>R->W at 922: in LQT2, MIM: 152427<li>R->C at 948: in long QT syndrome 2/3, MIM: 152427<li>P->L at 1016: in dbSNP:rs41313074, MIM: 152427<li>P->S at 1016: in dbSNP:rs41307280, MIM: 152427<li>P->S at 1020: in dbSNP:rs41307274, MIM: 152427<li>P->L at 1026: in dbSNP:rs41307271, MIM: 152427<li>R->Q at 1055: in dbSNP:rs41307270, MIM: 152427</ul>							<li>P35184</li><li>P54420</li><li>Q14524</li><li>O25424</li><li>Q9ZLB9</li><li>P06608</li>	<li>Long QT syndrome type 2 (LQT2) [MIM:152427]</li><li>Short QT syndrome type 1 (SQT1) [MIM:609620]</li>	<li>rs36210422</li><li>rs1805123</li><li>rs41307270</li><li>rs41307280</li><li>rs28933095</li><li>rs41307274</li><li>rs28928905</li><li>rs41308954</li><li>rs41313074</li><li>rs12720441</li><li>rs41307271</li><li>rs28928904</li>	2
Q12816	7216	<ul><li>S->G at 738: in dbSNP:rs17297490</ul>									rs17297490	2
Q12834	991	<ul><li>V->M at 402: in dbSNP rsrs45443196<li>R->Q at 479: in dbSNP rsrs45461499</ul>									<li>rs45461499</li><li>rs45443196</li>	2
Q12836	57829	<ul><li>A->V at 114: in dbSNP:rs34370253<li>P->S at 295: in dbSNP:rs34811980</ul>									<li>rs34811980</li><li>rs34370253</li>	2
Q12840	3798	<ul><li>K->N at 253: decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover<li>N->S at 256: in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover, MIM: 604187<li>Y->C at 276: in SPG10, MIM: 604187<li>R->C at 280: in SPG10, MIM: 604187<li>A->V at 361: in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover, MIM: 604187</ul>					microtubule	GO:0005874		Spastic paraplegia type 10 (SPG10) [MIM:604187]		2
Q12849	2926	<ul><li>D->Y at 277: in dbSNP:rs17854012</ul>									rs17854012	2
Q12852	7786	<ul><li>E->K at 409: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>G->R at 628: in dbSNP rsrs34366500<li>G->S at 640: in dbSNP rsrs55794887</ul>									<li>rs55794887</li><li>rs34366500</li>	2
Q12860	1272	<ul><li>P->H at 794: in a colorectal cancer sample; somatic mutation<li>V->L at 798: in dbSNP:rs1056020<li>E->G at 824: in dbSNP:rs11553341</ul>									<li>rs1056020</li><li>rs11553341</li>	2
Q12864	1015	<ul><li>I->T at 446: in dbSNP:rs1131829<li>D->E at 734: in dbSNP:rs1051623<li>E->A at 739: in dbSNP:rs1051624</ul>									<li>rs1051624</li><li>rs1131829</li><li>rs1051623</li>	2
Q12866	10461	<ul><li>R->S at 20: in dbSNP:rs35898499<li>S->N at 118: in dbSNP:rs13027171<li>V->M at 185: in dbSNP rsrs56205303<li>A->T at 282<li>E->K at 289<li>R->H at 293: in dbSNP:rs34072093<li>N->S at 329: in dbSNP:rs34943572<li>A->G at 446: in a renal clear cell carcinoma sample; somatic mutation<li>V->L at 452: in dbSNP rsrs34010621<li>R->K at 466: in dbSNP:rs7604639<li>N->S at 498: in dbSNP:rs35858762<li>I->V at 518: in dbSNP:rs2230515<li>E->K at 540: in RP, MIM: 268000<li>S->C at 661: in RP, MIM: 268000<li>Q->E at 662: in dbSNP rsrs56209758, MIM: 268000<li>A->S at 708: in a head & Neck squamous cell carcinoma sample; somatic mutation, MIM: 268000<li>E->Q at 823: in dbSNP rsrs55924349, MIM: 268000<li>R->W at 865: in dbSNP:rs2230516, MIM: 268000<li>V->I at 870: in dbSNP:rs2230517, MIM: 268000<li>I->T at 871: in RP, MIM: 268000<li>I->V at 871, MIM: 268000</ul>								Retinitis pigmentosa (RP) [MIM:268000]	<li>rs56209758</li><li>rs35858762</li><li>rs2230516</li><li>rs34072093</li><li>rs34943572</li><li>rs7604639</li><li>rs2230517</li><li>rs2230515</li><li>rs35898499</li><li>rs34010621</li><li>rs56205303</li><li>rs13027171</li><li>rs55924349</li>	2
Q12872	6433	<ul><li>Q->L at 52: in dbSNP:rs1051207<li>L->F at 122: in dbSNP:rs1051314<li>F->L at 136: in dbSNP:rs1131564<li>P->L at 421: in dbSNP:rs1982528</ul>									<li>rs1051314</li><li>rs1051207</li><li>rs1131564</li><li>rs1982528</li>	2
Q12873	1107	<ul><li>A->V at 3: in dbSNP:rs931543</ul>									rs931543	2
Q12879	2903	<ul><li>K->E at 270</ul>										2
Q12882	1806	<ul><li>C->R at 29: in allele DPYD*9A and allele DPYD*9B; loss of activity; dbSNP:rs1801265<li>M->V at 166: in dbSNP:rs2297595<li>R->W at 235: in allele DPYD*8; loss of activity; dbSNP:rs1801266<li>S->N at 534: in allele DPYD*4; low activity; dbSNP:rs1801158<li>I->V at 543: in allele DPYD*5; dbSNP:rs1801159<li>V->I at 732: in dbSNP:rs1801160<li>R->H at 886: in allele DPYD*9B; 25% of activity; dbSNP:rs1801267<li>V->F at 995: in allele DPYD*10; low activity; dbSNP:rs1801268</ul>							<li>Q28007</li><li>Q12882</li><li>Q28943</li>		<li>rs2297595</li><li>rs1801160</li><li>rs1801266</li><li>rs1801265</li><li>rs1801268</li><li>rs1801267</li><li>rs1801159</li><li>rs1801158</li>	2
Q12887	1352	<ul><li>T->K at 196: in COX deficiency, MIM: 220110<li>N->K at 204: in COX deficiency, MIM: 220110<li>P->L at 225: in COX deficiency, MIM: 220110<li>D->G at 336: in COX deficiency; associated with Leigh syndrome, MIM: 220110<li>D->V at 336: in COX deficiency; associated with Leigh syndrome, MIM: 220110</ul>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]		2
Q12888	7158	<ul><li>D->E at 353: in dbSNP:rs560191<li>G->S at 412: in dbSNP:rs689647<li>M->V at 648: in dbSNP:rs45443496<li>Q->R at 699: in dbSNP:rs34823068<li>D->G at 841: in dbSNP:rs34185035<li>E->G at 1014: in dbSNP:rs45470395<li>V->A at 1026: in dbSNP:rs45482998<li>K->Q at 1136: in dbSNP:rs2602141<li>E->K at 1137: in dbSNP:rs34740611<li>A->G at 1170: in dbSNP:rs45500399<li>I->V at 1174: in dbSNP:rs3803339<li>R->Q at 1442: in dbSNP:rs2230449<li>G->W at 1488: in dbSNP:rs11554564</ul>									<li>rs34185035</li><li>rs45470395</li><li>rs34823068</li><li>rs34740611</li><li>rs560191</li><li>rs45482998</li><li>rs3803339</li><li>rs45443496</li><li>rs2230449</li><li>rs689647</li><li>rs11554564</li><li>rs45500399</li><li>rs2602141</li>	2
Q12889	5016	<ul><li>D->E at 332: in dbSNP:rs17027633<li>M->T at 477: in dbSNP:rs2485319<li>M->V at 479: in dbSNP:rs3767607<li>Y->H at 514: in dbSNP:rs1126656<li>S->G at 536: in dbSNP:rs3767609<li>H->Q at 604: in dbSNP:rs10067<li>L->H at 662: in a colorectal cancer sample; somatic mutation<li>E->Q at 676: in dbSNP:rs7825</ul>									<li>rs10067</li><li>rs3767609</li><li>rs17027633</li><li>rs7825</li><li>rs1126656</li><li>rs2485319</li><li>rs3767607</li>	2
Q12891	8692	<ul><li>A->S at 18: in dbSNP:rs709210</ul>									rs709210	2
Q12894	7866	<ul><li>R->Q at 438: in dbSNP:rs2229648</ul>									rs2229648	2
Q12899	7726	<ul><li>Q->H at 197: in dbSNP:rs17194565</ul>									rs17194565	2
Q12901		<ul><li>H->R at 474: in a colorectal cancer sample; somatic mutation</ul>										2
Q12904	9255	<ul><li>P->A at 79: in dbSNP:rs1134648<li>T->A at 104: in dbSNP:rs2230254<li>T->A at 117: in dbSNP:rs2230255</ul>									<li>rs2230254</li><li>rs1134648</li><li>rs2230255</li>	2
Q12906	3609	<ul><li>D->H at 50: in dbSNP:rs1064493<li>A->S at 501: in dbSNP:rs34520379</ul>									<li>rs34520379</li><li>rs1064493</li>	2
Q12908	6555	<ul><li>V->I at 98: in dbSNP rsrs55971546<li>V->I at 159: in dbSNP rsrs60380298<li>A->S at 171: in dbSNP:rs188096<li>L->P at 243: in PBAM; abolishes taurocholate transport, MIM: 601295<li>T->M at 262: in PBAM; abolishes taurocholate transport, MIM: 601295<li>P->S at 290: in a patient with Crohn disease; abolishes taurocholate transport: in dbSNP rsrs56398830, MIM: 601295</ul>	transport	GO:0006810						Primary bile acid malabsorption (PBAM) [MIM:601295]	<li>rs188096</li><li>rs56398830</li><li>rs55971546</li><li>rs60380298</li>	2
Q12913	5795	<ul><li>R->C at 214: in colon cancer; somatic mutation<li>Q->P at 276: in colon cancer; somatic mutation; dbSNP:rs1566734<li>A->T at 293: in dbSNP:rs2229701<li>R->Q at 326: in dbSNP:rs1503185<li>V->I at 372: in dbSNP:rs2229703<li>E->D at 872: in dbSNP:rs4752904<li>I->T at 1235: in dbSNP:rs11039554</ul>									<li>rs11039554</li><li>rs2229703</li><li>rs2229701</li><li>rs1566734</li><li>rs1503185</li><li>rs4752904</li>	2
Q12918	3820	<ul><li>I->T at 168: in dbSNP:rs1135816</ul>									rs1135816	2
Q12923	5783	<ul><li>F->L at 1356: in dbSNP:rs10033029<li>L->P at 1419<li>I->M at 1522: in dbSNP:rs2230600<li>E->K at 1625: in dbSNP:rs12500797<li>S->P at 1744: in dbSNP:rs17012064<li>Y->D at 2081: in dbSNP:rs989902<li>I->V at 2458: in dbSNP:rs34226837</ul>									<li>rs2230600</li><li>rs10033029</li><li>rs12500797</li><li>rs989902</li><li>rs17012064</li><li>rs34226837</li>	2
Q12929	2059	<ul><li>D->E at 761: in dbSNP:rs7137185<li>A->S at 806: in dbSNP:rs1802658</ul>									<li>rs1802658</li><li>rs7137185</li>	2
Q12931	10131	<ul><li>R->G at 307: in dbSNP:rs13926<li>D->E at 395: in dbSNP:rs1136948<li>R->H at 692: in dbSNP:rs2791</ul>									<li>rs1136948</li><li>rs2791</li><li>rs13926</li>	2
Q12934	631	<ul><li>G->S at 345: in dbSNP:rs6080719<li>D->E at 656: in dbSNP:rs16999317</ul>									<li>rs16999317</li><li>rs6080719</li>	2
Q12948	2296	<ul><li>S->T at 82: in ARS, MIM: 601090<li>I->M at 87: in ARS, MIM: 601090<li>F->S at 112: in IGDA and Peters anomaly, MIM: 604229<li>I->M at 126: in ARS; with glaucoma, MIM: 601090<li>S->L at 131: in ARS; with glaucoma, MIM: 601090<li>M->K at 161, MIM: 601090</ul>							<li>P50473</li><li>P55000</li><li>P14000</li>	<li>Peters anomaly [MIM:604229]</li><li>Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]</li><li>Axenfeld-Rieger syndrome (ARS) [MIM:601090]</li>		2
Q12950	2298	<ul><li>I->F at 134: in dbSNP:rs10959293<li>G->D at 136: in dbSNP:rs2492216<li>I->V at 152: in dbSNP:rs7031810</ul>									<li>rs2492216</li><li>rs10959293</li><li>rs7031810</li>	2
Q12951	2299	<ul><li>P->S at 243: in dbSNP:rs35678180<li>N->S at 362: in dbSNP:rs3828625</ul>									<li>rs35678180</li><li>rs3828625</li>	2
Q12962	6881	<ul><li>I->T at 92: in dbSNP:rs3176311</ul>									rs3176311	2
Q12967	5900	<ul><li>R->L at 496: in a colorectal cancer sample; somatic mutation</ul>										2
Q12968	4775	<ul><li>S->L at 75: in dbSNP:rs2230092<li>E->A at 94: in dbSNP:rs3743736<li>L->S at 100: in dbSNP:rs2230093<li>P->L at 136: in dbSNP:rs2230094<li>P->S at 382: in dbSNP:rs2230095</ul>									<li>rs2230094</li><li>rs2230093</li><li>rs2230095</li><li>rs2230092</li><li>rs3743736</li>	2
Q12981	662	<ul><li>Q->H at 14: in dbSNP:rs5745100</ul>									rs5745100	2
Q12982	663	<ul><li>S->T at 24: in dbSNP:rs6151509</ul>									rs6151509	2
Q12986	4799	<ul><li>H->Y at 731: in dbSNP:rs5017299<li>P->S at 760: in dbSNP:rs2860036<li>P->Q at 1086: in dbSNP:rs2274866</ul>									<li>rs2274866</li><li>rs2860036</li><li>rs5017299</li>	2
Q13002	2898	<ul><li>E->Q at 187: in a breast cancer sample; somatic mutation<li>I->V at 567: in RNA edited version<li>Y->C at 571: in RNA edited version<li>Q->R at 621: in RNA edited version<li>V->I at 766: in dbSNP:rs3213608<li>M->I at 867: in dbSNP:rs2235076</ul>									<li>rs3213608</li><li>rs2235076</li>	2
Q13003	2899	<ul><li>R->H at 215: in a colorectal cancer sample; somatic mutation<li>S->A at 310: in dbSNP:rs6691840<li>R->Q at 352: in RNA edited version<li>D->H at 391: in a breast cancer sample; somatic mutation</ul>									rs6691840	2
Q13007	11009	<ul><li>Y->H at 124: in dbSNP:rs1150258<li>H->R at 125: in dbSNP:rs3093431<li>V->L at 131: in dbSNP:rs3093446</ul>									<li>rs1150258</li><li>rs3093446</li><li>rs3093431</li>	2
Q13009	7074	<ul><li>G->R at 247: in dbSNP:rs2070418<li>G->V at 247: in dbSNP:rs2070417<li>R->C at 678: in a colorectal cancer sample; somatic mutation<li>Q->H at 844: in dbSNP:rs16987932<li>A->V at 1339: in a colorectal cancer sample; somatic mutation</ul>									<li>rs16987932</li><li>rs2070418</li><li>rs2070417</li>	2
Q13011	1891	<ul><li>E->A at 41: in dbSNP:rs9419<li>G->R at 217: in dbSNP:rs2229259</ul>									<li>rs2229259</li><li>rs9419</li>	2
Q13017	394	<ul><li>I->V at 17: in dbSNP:rs17386818</ul>									rs17386818	2
Q13018	22925	<ul><li>R->Q at 142: in dbSNP:rs12327936<li>P->S at 177: in dbSNP:rs13394676<li>I->V at 279: in dbSNP:rs965290<li>M->V at 292: in dbSNP:rs3749117<li>H->D at 300: in dbSNP:rs35771982<li>R->H at 404: in dbSNP:rs33985939<li>G->S at 1106: in dbSNP:rs3828323</ul>									<li>rs33985939</li><li>rs12327936</li><li>rs13394676</li><li>rs3749117</li><li>rs965290</li><li>rs3828323</li><li>rs35771982</li>	2
Q13023	9472	<ul><li>A->V at 337: in dbSNP:rs3742926<li>N->S at 408: in dbSNP:rs17099240<li>N->D at 558: in dbSNP:rs35210906<li>E->K at 892: in dbSNP:rs34572259<li>K->M at 910: in a breast cancer sample; somatic mutation<li>M->I at 1192: in a breast cancer sample; somatic mutation<li>A->V at 1492: in dbSNP:rs11845640<li>T->A at 1516: in dbSNP:rs17099587<li>V->I at 1522: in dbSNP:rs34711402<li>E->Q at 1702: in a breast cancer sample; somatic mutation<li>P->T at 1839: in a colorectal cancer sample; somatic mutation<li>N->D at 2035: in dbSNP:rs1051695<li>F->Y at 2171: in dbSNP:rs4647899<li>D->H at 2209: in dbSNP:rs4402458<li>E->D at 2267: in dbSNP:rs35977369</ul>									<li>rs1051695</li><li>rs35977369</li><li>rs17099587</li><li>rs35210906</li><li>rs4647899</li><li>rs11845640</li><li>rs17099240</li><li>rs4402458</li><li>rs3742926</li><li>rs34572259</li><li>rs34711402</li>	2
Q13029	7799	<ul><li>D->E at 283: in dbSNP:rs2076324<li>S->N at 450: in dbSNP:rs17350795</ul>									<li>rs2076324</li><li>rs17350795</li>	2
Q13043	6789	<ul><li>H->N at 162: in dbSNP rsrs55850759<li>R->Q at 310: in dbSNP:rs35447878<li>V->M at 312: in dbSNP:rs17420378<li>I->T at 355: in dbSNP:rs35944046<li>P->L at 416: in dbSNP:rs33963346</ul>									<li>rs33963346</li><li>rs17420378</li><li>rs55850759</li><li>rs35944046</li><li>rs35447878</li>	2
Q13045	2314	<ul><li>R->H at 1243: in dbSNP:rs8821</ul>									rs8821	2
Q13049	22954	<ul><li>P->S at 130: in BBS11; this mutation maintains the self-interaction, MIM: 209900<li>T->R at 257: in dbSNP:rs3747834, MIM: 209900<li>R->H at 394: in LGMD2H; this mutation abolishes self-binding; interaction with UBE2N is similarly impaired, MIM: 254110<li>R->C at 408: in dbSNP:rs3747835, MIM: 254110<li>D->N at 487: in LGMD2H; this mutation abolishes self-binding; interaction with UBE2N is similarly impaired, MIM: 254110<li>Missing  at 588: in LGMD2H, MIM: 254110</ul>			binding	GO:0005488			<li>Q5R7J6</li><li>P61088</li><li>Q4R4I1</li>	<li>Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]</li><li>Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]</li>	<li>rs3747835</li><li>rs3747834</li>	2
Q13057	80347	<ul><li>S->Y at 55: in dbSNP:rs615942</ul>									rs615942	2
Q13064	7681	<ul><li>T->M at 145: in a colorectal cancer sample; somatic mutation<li>S->T at 239: in a colorectal cancer sample; somatic mutation</ul>										2
Q13075	4671	<ul><li>V->M at 535</ul>										2
Q13077	7185	<ul><li>M->T at 139</ul>										2
Q13084	10573	<ul><li>H->Y at 27: in dbSNP:rs3194151<li>D->E at 160: in dbSNP:rs11557302</ul>									<li>rs3194151</li><li>rs11557302</li>	2
Q13085	31	<ul><li>R->W at 838: in dbSNP:rs2287351<li>R->Q at 1687: in a colorectal cancer sample; somatic mutation<li>A->V at 2271: rare polymorphism; frequency <0.004; may play a role in breast cancer susceptibility</ul>									rs2287351	2
Q13087	64714	<ul><li>P->S at 39: in dbSNP:rs45455191<li>T->R at 119: in dbSNP:rs45614840<li>E->K at 185: in dbSNP:rs419949<li>T->M at 286: in dbSNP:rs2685127<li>P->A at 382: in dbSNP:rs45529833<li>R->Q at 388: in dbSNP:rs400037<li>P->S at 502: in dbSNP:rs1048786</ul>									<li>rs400037</li><li>rs419949</li><li>rs45455191</li><li>rs45529833</li><li>rs45614840</li><li>rs1048786</li><li>rs2685127</li>	2
Q13093	7941	<ul><li>L->P at 45: in dbSNP rsrs45521937<li>R->H at 92: common polymorphism; dbSNP:rs1805017<li>K->N at 191: in dbSNP rsrs45454695<li>I->T at 198: common polymorphism; dbSNP:rs1805018<li>V->F at 279: in PLA2G7 deficiency; loss of function; more common among Japanese than in Caucasians; risk factor for coronary arthery disease and stroke; dbSNP:rs16874954, MIM: 601690<li>Q->R at 281: in PLA2G7 deficiency; loss of function, MIM: 601690<li>V->A at 379: common polymorphism; dbSNP:rs1051931, MIM: 601690</ul>							<li>Q28262</li><li>P70683</li><li>Q90678</li><li>Q13093</li><li>Q28017</li>	Platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency) [MIM:601690]	<li>rs45521937</li><li>rs1051931</li><li>rs1805017</li><li>rs1805018</li><li>rs16874954</li><li>rs45454695</li>	2
Q13099	8100	<ul><li>M->I at 383: in dbSNP:rs2442455<li>S->N at 455: in dbSNP:rs9509307<li>S->G at 671: in dbSNP:rs9552254</ul>									<li>rs9552254</li><li>rs9509307</li><li>rs2442455</li>	2
Q13103	6694	<ul><li>S->F at 38: in dbSNP rsrs34347825</ul>									rs34347825	2
Q13106	7710	<ul><li>G->V at 122: in dbSNP:rs2074078<li>L->V at 182: in dbSNP:rs2188736<li>P->L at 384: in dbSNP:rs34746514</ul>									<li>rs2188736</li><li>rs34746514</li><li>rs2074078</li>	2
Q13107	7375	<ul><li>Y->C at 620: in dbSNP:rs9311440</ul>									rs9311440	2
Q13112	8208	<ul><li>K->Q at 506: in dbSNP:rs2230638</ul>									rs2230638	2
Q13114	7187	<ul><li>M->T at 129: in dbSNP:rs1131877</ul>									rs1131877	2
Q13118	7071	<ul><li>S->F at 249: in dbSNP:rs4734653</ul>									rs4734653	2
Q13126	4507	<ul><li>V->I at 56: in dbSNP:rs7023954</ul>									rs7023954	2
Q13127	5978	<ul><li>V->I at 626: in dbSNP:rs2228991<li>E->D at 692: in dbSNP:rs2227902<li>Q->K at 762: in dbSNP:rs2227903<li>P->L at 797: in dbSNP:rs3796529</ul>									<li>rs2227902</li><li>rs2227903</li><li>rs3796529</li><li>rs2228991</li>	2
Q13129	6018	<ul><li>R->K at 668: in dbSNP:rs35189918<li>V->A at 932: in dbSNP:rs35563960<li>G->D at 957: in dbSNP:rs35042446<li>E->D at 1784: in dbSNP:rs10889205</ul>									<li>rs35563960</li><li>rs35042446</li><li>rs35189918</li><li>rs10889205</li>	2
Q13131	5562	<ul><li>Q->R at 7: in a breast cancer sample; somatic mutation</ul>										2
Q13133	10062	<ul><li>G->V at 52: in dbSNP:rs41481445</ul>									rs41481445	2
Q13136	8500	<ul><li>V->I at 71: in dbSNP:rs546502<li>L->F at 1072: in dbSNP:rs11236045</ul>									<li>rs11236045</li><li>rs546502</li>	2
Q13137	10241	<ul><li>G->E at 140: in dbSNP:rs550510<li>G->R at 227: in dbSNP:rs2303016<li>V->A at 248: in dbSNP:rs2303015<li>T->A at 273: in dbSNP:rs17849804<li>P->A at 389: in dbSNP:rs10278</ul>									<li>rs17849804</li><li>rs2303015</li><li>rs2303016</li><li>rs550510</li><li>rs10278</li>	2
Q13144	8893	<ul><li>V->G at 73: in VWM, MIM: 603896<li>T->A at 91: in VWM: in dbSNP rsrs28939717, MIM: 603896<li>L->F at 106: in VWM, MIM: 603896<li>R->H at 113: in VWM and ovarioleukodystrophy, MIM: 603896<li>R->C at 195: in ovarian failure, MIM: 603896<li>R->H at 195: in CLE, MIM: 603896<li>N->T at 200: in dbSNP:rs2971409, MIM: 603896<li>R->H at 299: in VWM, MIM: 603896<li>R->G at 315: in VWM, MIM: 603896<li>R->H at 315: in VWM, MIM: 603896<li>R->P at 339: in VWM, MIM: 603896<li>R->Q at 339: in VWM, MIM: 603896<li>R->W at 339: in VWM, MIM: 603896<li>G->V at 386: in VWM, MIM: 603896<li>V->A at 430: in VWM, MIM: 603896<li>I->V at 587: in dbSNP:rs843358, MIM: 603896<li>W->R at 628: in VWM: in dbSNP rsrs28937596, MIM: 603896<li>E->K at 650: in VWM, MIM: 603896</ul>								<li>Cree leukoencephalopathy (CLE) [MIM:603896]</li><li>Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]</li><li>Ovarioleukodystrophy [MIM:603896]</li>	<li>rs28937596</li><li>rs2971409</li><li>rs843358</li><li>rs28939717</li>	2
Q13148	23435	<ul><li>A->V at 90<li>D->G at 169: in ALS10, MIM: 612069<li>G->S at 287: in ALS10, MIM: 612069<li>G->A at 290: in ALS10, MIM: 612069<li>G->A at 294: in ALS10, MIM: 612069<li>G->S at 298: in ALS10, MIM: 612069<li>A->T at 315: in ALS10, MIM: 612069<li>Q->K at 331: in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos, MIM: 612069<li>M->V at 337: in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos, MIM: 612069<li>G->C at 348: in ALS10, MIM: 612069<li>R->S at 361: in ALS10, MIM: 612069<li>A->T at 382: in ALS10, MIM: 612069<li>N->D at 390: in ALS10, MIM: 612069<li>N->S at 390: in ALS10, MIM: 612069</ul>	development	GO:0007275			buds	GO:0005933		Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]		2
Q13153	5058	<ul><li>L->V at 515: in dbSNP:rs35345144</ul>									rs35345144	2
Q13155	7965	<ul><li>A->G at 129: in dbSNP:rs17855441<li>L->I at 166: in dbSNP:rs34525431</ul>									<li>rs34525431</li><li>rs17855441</li>	2
Q13156	29935	<ul><li>A->T at 33: in dbSNP:rs2642219</ul>									rs2642219	2
Q13163	5607	<ul><li>H->R at 118: in dbSNP:rs56241934<li>A->V at 427: in dbSNP rsrs55877854<li>A->T at 428: in dbSNP:rs55811347</ul>									<li>rs56241934</li><li>rs55811347</li><li>rs55877854</li>	2
Q13164	5598	<ul><li>R->H at 535<li>G->A at 550: in dbSNP:rs56388327</ul>									rs56388327	2
Q13183	9058	<ul><li>L->F at 44: in dbSNP:rs45443898<li>M->L at 45: in dbSNP:rs16964363<li>F->L at 254: in dbSNP:rs11568461<li>A->P at 310: in dbSNP:rs11568441<li>P->S at 385: in dbSNP:rs45546232<li>V->M at 477: in dbSNP:rs11568476<li>I->V at 550: in dbSNP:rs11567842</ul>									<li>rs16964363</li><li>rs45443898</li><li>rs45546232</li><li>rs11568441</li><li>rs11568461</li><li>rs11568476</li><li>rs11567842</li>	2
Q13188	6788	<ul><li>V->L at 60: in an ovarian clear cell carcinoma sample; somatic mutation<li>F->C at 418: in dbSNP:rs36047674</ul>									rs36047674	2
Q13190	6811	<ul><li>P->L at 51: in dbSNP:rs3802945<li>Q->H at 72: in dbSNP:rs11231241<li>Q->H at 79: in a breast cancer sample; somatic mutation</ul>									<li>rs11231241</li><li>rs3802945</li>	2
Q13191	868	<ul><li>R->K at 584: in dbSNP:rs17853100<li>N->D at 883: in dbSNP:rs35835913</ul>									<li>rs35835913</li><li>rs17853100</li>	2
Q13200	5708	<ul><li>A->T at 176: in dbSNP:rs11545172<li>E->D at 313: in dbSNP:rs11545169</ul>									<li>rs11545169</li><li>rs11545172</li>	2
Q13201	22915	<ul><li>T->A at 58: in dbSNP:rs1442138<li>T->A at 805: in dbSNP:rs3756065<li>G->D at 883: in dbSNP:rs12646270<li>T->R at 964: in dbSNP:rs17855885</ul>									<li>rs12646270</li><li>rs3756065</li><li>rs17855885</li><li>rs1442138</li>	2
Q13203	4608	<ul><li>Q->H at 48: in dbSNP:rs2788532<li>A->G at 49: in dbSNP:rs2791721<li>A->G at 114: in dbSNP:rs2642531</ul>									<li>rs2791721</li><li>rs2788532</li><li>rs2642531</li>	2
Q13206	1662	<ul><li>L->V at 566: in a breast cancer sample; somatic mutation</ul>										2
Q13214	7869	<ul><li>R->C at 348: in NSCLC<li>D->H at 397: in NSCLC<li>T->I at 415: in NSCLC</ul>										2
Q13216	1161	<ul><li>S->C at 150: in dbSNP:rs167037<li>A->V at 160: in CSA, MIM: 216400<li>Y->C at 200: in dbSNP:rs4647105, MIM: 216400<li>A->P at 205: in CSA, MIM: 216400</ul>							<li>Q06652</li><li>Q1E8D2</li><li>P08796</li><li>Q13216</li><li>Q00398</li>	Cockayne syndrome type A (CSA) [MIM:216400]	<li>rs167037</li><li>rs4647105</li>	2
Q13219	5069	<ul><li>S->R at 944<li>S->Y at 1224: in dbSNP:rs7020782</ul>									rs7020782	2
Q13224	2904	<ul><li>S->N at 407</ul>										2
Q13227	2874	<ul><li>T->A at 306: in dbSNP:rs2292065</ul>									rs2292065	2
Q13231	1118	<ul><li>R->H at 40: in dbSNP:rs35920428<li>G->S at 102: in dbSNP:rs2297950<li>Q->H at 171: in dbSNP:rs12562058<li>A->G at 442: in dbSNP:rs1065761</ul>									<li>rs1065761</li><li>rs35920428</li><li>rs12562058</li><li>rs2297950</li>	2
Q13233	4214	<ul><li>S->N at 92<li>C->S at 443<li>D->N at 806: in dbSNP:rs702689<li>V->I at 906: in dbSNP:rs832582</ul>									<li>rs832582</li><li>rs702689</li>	2
Q13237	5593	<ul><li>T->S at 22: in dbSNP:rs34956759<li>H->R at 106: in dbSNP rsrs34616910<li>W->R at 716: in a colorectal adenocarcinoma sample; somatic mutation</ul>									<li>rs34956759</li><li>rs34616910</li>	2
Q13241	3824	<ul><li>A->S at 25: in dbSNP:rs10772256</ul>									rs10772256	2
Q13243	6430	<ul><li>A->S at 160: in dbSNP:rs1057683</ul>									rs1057683	2
Q13247	6431	<ul><li>R->Q at 145: in a colorectal cancer sample; somatic mutation</ul>										2
Q13253	9241	<ul><li>P->A at 35: in BDB2, MIM: 611377<li>P->R at 35: in SYM1 and TCC, MIM: 186570<li>P->S at 35: in SYM1 and BDB2; dbSNP:rs28937580, MIM: 185800<li>A->P at 36: in BDB2, MIM: 611377<li>E->K at 48: in BDB2, MIM: 611377<li>R->G at 167: in BDB2, MIM: 611377<li>C->Y at 184: in SYM1; sporadic; de novo mutation, MIM: 185800<li>P->S at 187: in BDB2, MIM: 611377<li>G->C at 189: in SYM1, MIM: 185800<li>R->L at 204: in TCC, MIM: 186570<li>W->C at 205: in SYM1, MIM: 185800<li>W->G at 217: in SYNS1, MIM: 186500<li>I->N at 220: in SYM1, MIM: 185800<li>Y->C at 222: in SYM1 and TCC, MIM: 186570<li>Y->D at 222: in SYM1, MIM: 185800<li>P->L at 223: in SYM1, MIM: 185800</ul>							<li>Q4P9K6</li><li>Q6FXJ3</li><li>Q59Q43</li><li>Q9H9B4</li><li>Q6BMY0</li><li>Q6CAW5</li><li>Q63965</li><li>Q6CIY7</li><li>Q5KND6</li><li>Q4IPX8</li><li>Q06563</li><li>Q754F0</li>	<li>Tarsal-carpal coalition syndrome (TCC) [MIM:186570]</li><li>Symphalangism proximal syndrome (SYM1) [MIM:185800]</li><li>Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]</li><li>Brachydactyly type B2 (BDB2) [MIM:611377]</li>	rs28937580	2
Q13255	2911	<ul><li>S->Y at 34: in dbSNP:rs12190109<li>R->K at 285: in dbSNP:rs7760248<li>R->W at 696: in a colorectal cancer sample; somatic mutation<li>E->D at 741: in dbSNP:rs3025919<li>G->E at 884: in dbSNP:rs362936<li>V->I at 929: in dbSNP:rs2941<li>P->S at 993: in dbSNP:rs6923492</ul>									<li>rs3025919</li><li>rs7760248</li><li>rs6923492</li><li>rs2941</li><li>rs12190109</li><li>rs362936</li>	2
Q13258	5729	<ul><li>R->C at 7: in dbSNP:rs41311442<li>G->E at 198: in dbSNP rsrs41312444<li>E->A at 301: in dbSNP:rs41312504<li>R->Q at 332: in dbSNP rsrs41312506</ul>									<li>rs41311442</li><li>rs41312504</li><li>rs41312444</li><li>rs41312506</li>	2
Q13261	3601	<ul><li>N->T at 182: in dbSNP:rs2228059</ul>									rs2228059	2
Q13263	10155	<ul><li>T->M at 794: in dbSNP rsrs56229738</ul>									rs56229738	2
Q13268		<ul><li>A->V at 250: in a colorectal cancer sample; somatic mutation</ul>										2
Q13275	6405	<ul><li>A->G at 474: in dbSNP:rs1046955<li>L->M at 503: in dbSNP:rs1046956</ul>									<li>rs1046956</li><li>rs1046955</li>	2
Q13277	6809	<ul><li>E->D at 83: in dbSNP:rs12282741<li>G->S at 276: in dbSNP:rs34563654<li>S->P at 285: in dbSNP:rs34753750</ul>									<li>rs34563654</li><li>rs34753750</li><li>rs12282741</li>	2
Q13285	2516	<ul><li>C->S at 33: in XY sex reversal without adrenal failure; markedly impaired transcriptional activity<li>G->E at 35: in XY sex reversal with adrenal failure<li>R->H at 84: in XY sex reversal without adrenal failure; markedly impaired transcriptional activity<li>R->Q at 92: in XY sex reversal with adrenal failure<li>G->A at 146: in dbSNP:rs1110061<li>R->L at 255: in adrenocortical insufficiency without ovarian defect, MIM: 184757</ul>								Adrenocortical insufficiency without ovarian defect [MIM:184757]	rs1110061	2
Q13286	1201	<ul><li>L->P at 101: in Batten disease, MIM: 204200<li>L->P at 170: in Batten disease, MIM: 204200<li>E->K at 295: in Batten disease, MIM: 204200<li>V->F at 330: in Batten disease, MIM: 204200<li>R->C at 334: in Batten disease, MIM: 204200<li>R->H at 334: in Batten disease, MIM: 204200</ul>								Batten disease [MIM:204200]		2
Q13287	9111	<ul><li>S->L at 16: in dbSNP:rs1048135</ul>									rs1048135	2
Q13291	6504	<ul><li>F->L at 11: in dbSNP:rs2295612<li>L->F at 81: in a breast cancer sample; somatic mutation<li>P->T at 333: in dbSNP:rs3796504</ul>									<li>rs2295612</li><li>rs3796504</li>	2
Q13303	8514	<ul><li>E->K at 88: in dbSNP:rs2229003</ul>									rs2229003	2
Q13308	5754	<ul><li>R->H at 276: in dbSNP rsrs56188167<li>T->S at 410<li>E->D at 745: in dbSNP:rs9472017<li>E->Q at 766: in dbSNP rsrs56216742<li>A->V at 777: in dbSNP rsrs34764696<li>H->R at 783: in dbSNP rsrs55820547<li>A->V at 933: in a colorectal adenocarcinoma sample; somatic mutation<li>P->T at 1029: in dbSNP rsrs55755163<li>R->Q at 1038: in dbSNP:rs34865794</ul>									<li>rs55755163</li><li>rs55820547</li><li>rs56216742</li><li>rs9472017</li><li>rs34865794</li><li>rs34764696</li><li>rs56188167</li>	2
Q13309	6502	<ul><li>P->L at 85: in dbSNP:rs3913486<li>L->I at 87: in dbSNP:rs3913487</ul>									<li>rs3913486</li><li>rs3913487</li>	2
Q13310	8761	<ul><li>Y->F at 382: in dbSNP:rs9820</ul>									rs9820	2
Q13315	472	<ul><li>R->Q at 23: in a colorectal adenocarcinoma sample; somatic mutation<li>S->C at 49: in dbSNP:rs1800054<li>D->E at 126: in dbSNP rsrs2234997<li>D->H at 140: in dbSNP rsrs55633650<li>V->L at 182: in dbSNP rsrs3218707<li>K->E at 224: in AT, MIM: 208900<li>R->Q at 250: in dbSNP rsrs56123940, MIM: 208900<li>P->L at 292: in AT; associated with lymphoma, MIM: 208900<li>I->V at 323: in AT, MIM: 208900<li>Y->C at 332: in B-cell chronic lymphocytic leukemia, MIM: 208900<li>S->F at 333: in dbSNP rsrs28904919, MIM: 208900<li>R->C at 337: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900<li>R->H at 337: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900<li>A->T at 350: in B-cell chronic lymphocytic leukemia, MIM: 208900<li>I->T at 352: in B-cell chronic lymphocytic leukemia, MIM: 208900<li>V->A at 410: in dbSNP rsrs56128736, MIM: 208900<li>N->S at 504: in dbSNP rsrs56365018, MIM: 208900<li>G->D at 514: in dbSNP rsrs2235000, MIM: 208900<li>C->Y at 540: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900<li>L->V at 546: in dbSNP rsrs2227924, MIM: 208900<li>F->S at 570: in AT, MIM: 208900<li>F->L at 582: in dbSNP rsrs2235006, MIM: 208900<li>YSS->FIP at 705-707: in AT; might be associated with susceptibility to cancer, MIM: 208900<li>S->P at 707: in dbSNP rsrs4986761, MIM: 208900<li>N->K at 750: in mantle cell lymphoma, MIM: 208900<li>N->D at 768: in AT, MIM: 208900<li>R->C at 785: in AT, MIM: 208900<li>E->Q at 848: in a lung adenocarcinoma sample; somatic mutation, MIM: 208900<li>F->L at 858: rare polymorphism; dbSNP:rs1800056, MIM: 208900<li>P->S at 872: in dbSNP rsrs3218673, MIM: 208900<li>R->W at 924: in dbSNP rsrs55723361, MIM: 208900<li>T->A at 935: in dbSNP rsrs35813135, MIM: 208900<li>L->R at 950: in AT, MIM: 208900<li>L->Q at 1001: in AT; associated with T-cell acute lymphoblastic leukemia, MIM: 208900<li>M->V at 1040: in B-cell non-Hodgkin lymphoma: in dbSNP rsrs3092857, MIM: 208900<li>P->R at 1054: in dbSNP:rs1800057, MIM: 208900<li>H->L at 1082: in AT, MIM: 208900<li>E->D at 1091: in AT, MIM: 208900<li>S->F at 1179: in a gastric adenocarcinoma sample; somatic mutation, MIM: 208900<li>M->I at 1321: in dbSNP rsrs35184530, MIM: 208900<li>H->Y at 1380: in dbSNP rsrs3092856, MIM: 208900<li>P->S at 1382: in dbSNP rsrs55859590, MIM: 208900<li>I->T at 1407: in T-prolymphocytic leukemia, MIM: 208900<li>L->F at 1420: rare polymorphism; dbSNP:rs1800058, MIM: 208900<li>L->P at 1420: in AT, MIM: 208900<li>K->N at 1454, MIM: 208900<li>F->S at 1463: in B-cell non-Hodgkin lymphoma, MIM: 208900<li>L->P at 1465: in AT, MIM: 208900<li>I->M at 1469: in a renal papillary cancer sample; somatic mutation, MIM: 208900<li>Y->C at 1475: in dbSNP rsrs34640941, MIM: 208900<li>P->R at 1566: in AT, MIM: 208900<li>V->A at 1570, MIM: 208900<li>N->S at 1650: in dbSNP rsrs55870064, MIM: 208900<li>D->H at 1682: in T-prolymphocytic leukemia, MIM: 208900<li>S->R at 1691: in AT and B-cell chronic lymphocytic leukemia; could be a rare polymorphism; dbSNP:rs1800059, MIM: 208900<li>N->T at 1739: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900<li>T->I at 1743: in AT; associated with preleukemic T-cell proliferation, MIM: 208900<li>AF->V at 1812-1813: in AT, MIM: 208900<li>D->N at 1853: common polymorphism; dbSNP:rs1801516, MIM: 208900<li>D->V at 1853: might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673, MIM: 208900<li>L->H at 1910: in T-prolymphocytic leukemia, MIM: 208900<li>V->G at 1913: in AT, MIM: 208900<li>M->I at 1916: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 208900<li>A->T at 1945: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900<li>T->R at 1953: in B-cell chronic lymphocytic leukemia, MIM: 208900<li>Y->C at 1961: in dbSNP rsrs56399311, MIM: 208900<li>S->N at 1983: in dbSNP rsrs659243, MIM: 208900<li>E->D at 1991: in a renal clear cell carcinoma sample; somatic mutation, MIM: 208900<li>D->G at 2016: in AT, MIM: 208900<li>G->E at 2063: in AT, MIM: 208900<li>A->D at 2067: in AT, MIM: 208900<li>V->I at 2079: in dbSNP:rs1800060, MIM: 208900<li>E->G at 2139: in T-prolymphocytic leukemia; somatic mutation, MIM: 208900<li>E->K at 2164: in T-prolymphocytic leukemia, MIM: 208900<li>S->C at 2218: in AT, MIM: 208900<li>MALR->IS at 2224-2227: in AT, MIM: 208900<li>R->C at 2227: in AT, MIM: 208900<li>CIKDILT->H at 2246-2252: in AT, MIM: 208900<li>A->T at 2274: in B-cell chronic lymphocytic leukemia, MIM: 208900<li>G->A at 2287: in dbSNP:rs1800061, MIM: 208900<li>L->F at 2307: in dbSNP rsrs56009889, MIM: 208900<li>L->P at 2332: in dbSNP rsrs4988111, MIM: 208900<li>I->F at 2356: in a renal clear cell carcinoma sample; somatic mutation, MIM: 208900<li>T->S at 2396: in T-prolymphocytic leukemia, MIM: 208900<li>S->L at 2408: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900<li>K->KK at 2418: in mantle cell lymphoma, MIM: 208900<li>A->P at 2420: in B-cell chronic lymphocytic leukemia, MIM: 208900<li>E->G at 2423: in mantle cell lymphoma, MIM: 208900<li>V->G at 2424: in AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; associated with increased risk for breast cancer: in dbSNP rsrs28904921, MIM: 208900<li>Missing  at 2427-2428: in AT; associated with T-prolymphocytic leukemia, MIM: 208900<li>T->I at 2438, MIM: 208900<li>Q->P at 2442: in T-prolymphocytic leukemia; also in a lung adenocarcinoma sample; somatic mutation, MIM: 208900<li>R->Q at 2443: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900<li>C->R at 2464: in dbSNP rsrs55801750, MIM: 208900<li>Y->D at 2470: in AT, MIM: 208900<li>R->G at 2486: in T-prolymphocytic leukemia, MIM: 208900<li>W->R at 2491: in AT, MIM: 208900<li>L->R at 2492: in dbSNP rsrs56399857, MIM: 208900<li>Missing  at 2546-2548: in AT, T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia, MIM: 208900<li>H->D at 2554: in AT, MIM: 208900<li>DA->EP at 2625-2626: in AT, MIM: 208900<li>D->Q at 2625: in AT; requires 2 nucleotide substitutions, MIM: 208900<li>L->P at 2656: in AT; partial functional loss, MIM: 208900<li>Missing  at 2662: in AT, MIM: 208900<li>Missing  at 2663: in AT, MIM: 208900<li>T->A at 2666: in a lung adenocarcinoma sample; somatic mutation, MIM: 208900<li>E->G at 2668: in AT, MIM: 208900<li>G->A at 2695: in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia, MIM: 208900<li>I->R at 2702: in AT, MIM: 208900<li>R->H at 2719: in dbSNP rsrs55982963, MIM: 208900<li>L->R at 2722: in T-prolymphocytic leukemia, MIM: 208900<li>D->G at 2725: in T-prolymphocytic leukemia, MIM: 208900<li>D->V at 2725: in T-prolymphocytic leukemia, MIM: 208900<li>A->V at 2726: in AT, MIM: 208900<li>F->L at 2732: in T-prolymphocytic leukemia, MIM: 208900<li>G->S at 2765: may contribute to breast cancer, MIM: 208900<li>Missing  at 2810: in T-prolymphocytic leukemia, MIM: 208900<li>C->Y at 2824: in AT, MIM: 208900<li>F->C at 2827: in AT; mild: in dbSNP rsrs28942101, MIM: 208900<li>P->L at 2829: in AT, MIM: 208900<li>R->C at 2832: in AT and B-cell non-Hodgkin lymphoma, MIM: 208900<li>P->R at 2842: in a lung adenocarcinoma sample; somatic mutation, MIM: 208900<li>R->P at 2849: in AT, MIM: 208900<li>SV->RI at 2855-2856: in AT, MIM: 208900<li>S->R at 2855: in AT, MIM: 208900<li>Missing  at 2860: in AT, MIM: 208900<li>G->R at 2867: in AT, MIM: 208900<li>D->N at 2870: in dbSNP rsrs55798854, MIM: 208900<li>RH->S at 2871-2872: in T-prolymphocytic leukemia, MIM: 208900<li>L->V at 2890: in T-prolymphocytic leukemia, MIM: 208900<li>E->G at 2904: in AT, MIM: 208900<li>R->G at 2909: in AT, MIM: 208900<li>D->N at 3003: in dbSNP rsrs1137889, MIM: 208900<li>A->P at 3006: in T-prolymphocytic leukemia, MIM: 208900<li>R->C at 3008: in AT, T-prolymphocytic leukemia and mantle cell lymphoma, MIM: 208900<li>R->H at 3008: in B-cell chronic lymphocytic leukemia, MIM: 208900<li>K->N at 3018: in B-cell chronic lymphocytic leukemia, MIM: 208900</ul>	T-cell proliferation	GO:0042098						Ataxia telangiectasia (AT) [MIM:208900]	<li>rs55723361</li><li>rs55633650</li><li>rs1800059</li><li>rs1800056</li><li>rs1800058</li><li>rs28942101</li><li>rs1800057</li><li>rs56399311</li><li>rs4986761</li><li>rs56365018</li><li>rs1800054</li><li>rs55798854</li><li>rs35813135</li><li>rs659243</li><li>rs1801673</li><li>rs3092857</li><li>rs3092856</li><li>rs2227924</li><li>rs28904919</li><li>rs3218707</li><li>rs56128736</li><li>rs4988111</li><li>rs35184530</li><li>rs56009889</li><li>rs1800061</li><li>rs1800060</li><li>rs56123940</li><li>rs55801750</li><li>rs2235000</li><li>rs34640941</li><li>rs2235006</li><li>rs3218673</li><li>rs55870064</li><li>rs56399857</li><li>rs2234997</li><li>rs55982963</li><li>rs1801516</li><li>rs28904921</li><li>rs55859590</li><li>rs1137889</li>	2
Q13316	1758	<ul><li>S->C at 69: in dbSNP:rs10019009<li>D->N at 117: in one individual with tumoral calcinosis<li>R->H at 272<li>K->R at 463: in dbSNP:rs34661425</ul>									<li>rs34661425</li><li>rs10019009</li>	2
Q13322	2887	<ul><li>P->L at 36: in dbSNP:rs35647889<li>D->H at 558: in dbSNP:rs11768472</ul>									<li>rs35647889</li><li>rs11768472</li>	2
Q13323	638	<ul><li>E->K at 19: in dbSNP:rs4988415<li>T->I at 26: in dbSNP:rs11090143<li>L->P at 148: in dbSNP:rs11574527</ul>									<li>rs4988415</li><li>rs11090143</li><li>rs11574527</li>	2
Q13324	1395	<ul><li>E->D at 220: in dbSNP:rs34625936</ul>									rs34625936	2
Q13326	6445	<ul><li>G->D at 69: in LGMD2C, MIM: 253700<li>G->R at 69: in LGMD2C, MIM: 253700<li>R->H at 116: in dbSNP:rs17314986, MIM: 253700<li>C->Y at 283: in LGMD2C, MIM: 253700<li>S->N at 287: in dbSNP:rs1800354, MIM: 253700</ul>								Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]	<li>rs17314986</li><li>rs1800354</li>	2
Q13332		<ul><li>T->M at 996: in a colorectal cancer sample; somatic mutation<li>R->C at 1457: in dbSNP:rs4807697</ul>									rs4807697	2
Q13336	6563	<ul><li>E->K at 44: in dbSNP:rs2298720<li>M->V at 167: in dbSNP:rs2298719<li>W->R at 171: in dbSNP:rs9948825<li>D->N at 280: in Jk: in dbSNP rsrs1058396<li>S->P at 291: in Jk</ul>									<li>rs1058396</li><li>rs2298719</li><li>rs2298720</li><li>rs9948825</li>	2
Q13351	10661	<ul><li>S->P at 102: in dbSNP:rs2072597<li>F->L at 182: in dbSNP:rs2072596</ul>									<li>rs2072596</li><li>rs2072597</li>	2
Q13352	23421	<ul><li>I->V at 30: in dbSNP:rs1058057</ul>									rs1058057	2
Q13360	7730	<ul><li>D->G at 94: in dbSNP:rs2230750<li>T->M at 112: in dbSNP:rs2217652</ul>									<li>rs2230750</li><li>rs2217652</li>	2
Q13361	8076	<ul><li>V->D at 61: in a breast cancer sample; somatic mutation</ul>										2
Q13362	5527	<ul><li>A->P at 515: in dbSNP:rs3742424</ul>									rs3742424	2
Q13368	4356	<ul><li>R->G at 585: in dbSNP:rs17742683</ul>									rs17742683	2
Q13370	5140	<ul><li>A->V at 87: in dbSNP:rs1056584</ul>									rs1056584	2
Q13371	5082	<ul><li>K->N at 218: in dbSNP:rs4466466</ul>									rs4466466	2
Q13387	23542	<ul><li>P->L at 743: in dbSNP:rs1140555</ul>									rs1140555	2
Q13393	5337	<ul><li>P->A at 49: in dbSNP:rs9819927<li>A->S at 622: in dbSNP:rs2290480<li>V->M at 820: in dbSNP:rs2287579<li>V->I at 1024: in dbSNP:rs9827333</ul>									<li>rs9827333</li><li>rs2287579</li><li>rs2290480</li><li>rs9819927</li>	2
Q13394	4081	<ul><li>S->P at 70: in dbSNP:rs1065316</ul>									rs1065316	2
Q13395	6894	<ul><li>L->P at 221: in dbSNP:rs12082990<li>A->T at 425: in dbSNP:rs10910439<li>S->G at 678: in dbSNP:rs4920246<li>N->S at 743: in dbSNP:rs2273872<li>H->P at 864: in dbSNP:rs4272658<li>F->L at 997: in dbSNP:rs12135427<li>T->I at 1038: in dbSNP:rs3820602<li>I->V at 1359: in dbSNP:rs3738616<li>I->V at 1461: in dbSNP:rs2275654</ul>									<li>rs12082990</li><li>rs2275654</li><li>rs4272658</li><li>rs10910439</li><li>rs2273872</li><li>rs4920246</li><li>rs3738616</li><li>rs3820602</li><li>rs12135427</li>	2
Q13398	10520	<ul><li>D->N at 110: in dbSNP:rs34897843</ul>									rs34897843	2
Q13402	4647	<ul><li>L->S at 16: in USH1B; heterozygosity approaching 50%; dbSNP:rs1052030, MIM: 276900<li>G->R at 25: in USH1B, MIM: 276900<li>A->E at 26: in USH1B, MIM: 276900<li>V->M at 67: in USH1B, MIM: 276900<li>R->P at 90: in USH1B, MIM: 276900<li>H->D at 133: in USH1B; the deleterious effect remains to be proven, MIM: 276900<li>I->N at 134: in USH1B, MIM: 276900<li>G->R at 163: in USH1B, MIM: 276900<li>K->R at 164: in USH1B, MIM: 276900<li>T->M at 165: in USH1B, MIM: 276900<li>A->T at 198: in USH1B; is predicted to alter the normal splicing of exon 6, MIM: 276900<li>T->A at 204: in USH1B, MIM: 276900<li>I->V at 205, MIM: 276900<li>R->C at 212: in USH1B; frequent mutation, MIM: 276900<li>R->H at 212: in USH1B; frequent mutation: in dbSNP rsrs28934610, MIM: 276900<li>G->R at 214: in USH1B, MIM: 276900<li>Missing  at 218-219: in USH1B, MIM: 276900<li>R->C at 241: in USH1B, MIM: 276900<li>R->S at 241: in USH1B, MIM: 276900<li>R->P at 244: in DFNB2, MIM: 600060<li>Missing  at 269: in USH1B, MIM: 600060<li>R->H at 302: in USH1B; frequent mutation; may be a polymorphism: in dbSNP rsrs41298135, MIM: 276900<li>A->D at 397: in USH1B, MIM: 276900<li>E->Q at 450: in USH1B, MIM: 276900<li>A->V at 457: in USH1B, MIM: 276900<li>N->I at 458: in DFNA11: in dbSNP rsrs28934903, MIM: 601317<li>H->HQ at 468: in USH1B, MIM: 601317<li>P->L at 503: in USH1B, MIM: 276900<li>G->D at 519: in USH1B; the deleterious effect remains to be proven, MIM: 276900<li>V->I at 597: rare polymorphism, MIM: 276900<li>M->I at 599: in DFNB2, MIM: 600060<li>L->P at 651: in USH1B; atypical, MIM: 276900<li>G->R at 722: in DFNA11, MIM: 601317<li>R->W at 756: in USH1B, MIM: 276900<li>A->T at 826: in USH1B, MIM: 276900<li>R->C at 853: in DFNA11; disturb calmodulin/MYO7A binding; may result in impaired adaptation to environmental stimuli and progressive deterioration of hearing transduction in heterozygotes, MIM: 601317<li>Missing  at 886-888: in DFNA11, MIM: 601317<li>G->S at 955: in USH1B, MIM: 276900<li>E->D at 968: in USH1B, MIM: 276900<li>L->P at 1087: in USH1B, MIM: 276900<li>E->K at 1170: in USH1B, MIM: 276900<li>R->Q at 1240: in USH1B, MIM: 276900<li>A->P at 1288: in USH1B, MIM: 276900<li>E->K at 1327: in USH1B, MIM: 276900<li>R->S at 1343: in USH1B, MIM: 276900<li>Missing  at 1346: in USH1B, MIM: 276900<li>Missing  at 1347-1351: in USH1B, MIM: 276900<li>T->M at 1566: in USH1B; could be a polymorphism, MIM: 276900<li>R->Q at 1602: in USH1B; atypical, MIM: 276900<li>A->S at 1628: in USH1B, MIM: 276900<li>C->G at 1666, MIM: 276900<li>C->S at 1666: in dbSNP:rs2276288, MIM: 276900<li>Y->C at 1719: in USH1B; could be a polymorphism, MIM: 276900<li>G->S at 1740: in dbSNP:rs12275336, MIM: 276900<li>R->W at 1743: in USH1B, MIM: 276900<li>L->P at 1858: in USH1B, MIM: 276900<li>R->W at 1873: in USH1B, MIM: 276900<li>R->Q at 1883: in USH1B, MIM: 276900<li>P->L at 1887: in USH1B, MIM: 276900<li>I->L at 1954: in dbSNP:rs948962, MIM: 276900<li>Missing  at 1962: in USH1B, MIM: 276900<li>F->I at 1992, MIM: 276900<li>G->E at 2137: in USH1B, MIM: 276900<li>D->N at 2142: in dbSNP:rs1132036, MIM: 276900<li>G->S at 2163: in USH1B, MIM: 276900<li>G->D at 2187: in USH1B, MIM: 276900</ul>	<li>hearing</li><li>transduction</li>	<li>GO:0007605</li><li>GO:0009293</li>	binding	GO:0005488			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>Q28970</li><li>P04352</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P93171</li><li>P62184</li><li>P62144</li><li>P62145</li><li>Q5RAD2</li><li>P07463</li><li>P24044</li><li>P11121</li><li>P62149</li><li>P06787</li><li>O02367</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P62157</li><li>P11118</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60205</li><li>P62158</li><li>P60204</li><li>O96102</li><li>P62201</li><li>P18061</li><li>P11120</li><li>Q8X187</li><li>P93087</li><li>O60041</li><li>Q05055</li><li>P62204</li><li>P62160</li><li>P62203</li><li>Q13402</li><li>P62202</li><li>P61859</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>Q9UWF0</li><li>P62162</li><li>P02598</li><li>P62161</li><li>P02599</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P84339</li><li>P27166</li><li>P23286</li><li>O94739</li><li>P27161</li><li>P41041</li><li>Q6R520</li>	<li>Non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11) [MIM:601317]</li><li>Usher syndrome type 1B (USH1B) [MIM:276900]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 2 (DFNB2) [MIM:600060]</li>	<li>rs12275336</li><li>rs28934903</li><li>rs28934610</li><li>rs2276288</li><li>rs41298135</li><li>rs1052030</li><li>rs1132036</li><li>rs948962</li>	2
Q13405	740	<ul><li>T->A at 9: in dbSNP:rs17146691</ul>									rs17146691	2
Q13410	696	<ul><li>T->A at 213: in dbSNP:rs3736781<li>V->A at 303: in dbSNP:rs1980600<li>D->E at 503: in dbSNP:rs9393728</ul>									<li>rs3736781</li><li>rs1980600</li><li>rs9393728</li>	2
Q13415	4998	<ul><li>R->S at 19: in dbSNP:rs3087473<li>Q->H at 180: in dbSNP:rs3087482<li>V->M at 190: in dbSNP:rs3087477<li>A->V at 372: in dbSNP:rs3087476<li>R->M at 441: in dbSNP:rs3087472<li>K->E at 456: in dbSNP:rs3087470<li>T->M at 466: in dbSNP:rs3087481<li>C->Y at 469: in dbSNP:rs3087483<li>M->T at 816: in dbSNP:rs34521609</ul>									<li>rs34521609</li><li>rs3087476</li><li>rs3087477</li><li>rs3087483</li><li>rs3087470</li><li>rs3087481</li><li>rs3087472</li><li>rs3087482</li><li>rs3087473</li>	2
Q13416	4999	<ul><li>M->K at 106: in dbSNP:rs2307361<li>R->Q at 521: in dbSNP:rs16835624</ul>									<li>rs16835624</li><li>rs2307361</li>	2
Q13421	10232	<ul><li>A->V at 72: in dbSNP:rs9927389<li>R->P at 309: in dbSNP:rs17850474<li>G->E at 497: in dbSNP:rs35935235<li>M->V at 601: in dbSNP:rs1135210</ul>									<li>rs1135210</li><li>rs9927389</li><li>rs35935235</li><li>rs17850474</li>	2
Q13424	6640	<ul><li>L->F at 364: in dbSNP:rs1046815</ul>									rs1046815	2
Q13425	6645	<ul><li>D->E at 424: in dbSNP:rs1058482</ul>									rs1058482	2
Q13426	7518	<ul><li>S->C at 12: in dbSNP:rs28383138<li>A->T at 56: in dbSNP:rs28383151<li>I->T at 134: in dbSNP:rs28360135<li>E->Q at 142: in dbSNP:rs28360136<li>Q->P at 240: in dbSNP:rs2974446<li>A->S at 247: in dbSNP:rs3734091</ul>									<li>rs28360136</li><li>rs3734091</li><li>rs28360135</li><li>rs28383151</li><li>rs2974446</li><li>rs28383138</li>	2
Q13428	6949	<ul><li>W->R at 53: in TCS, MIM: 154500<li>P->L at 516, MIM: 154500<li>P->A at 665: in dbSNP:rs2071240, MIM: 154500<li>A->V at 887: in dbSNP:rs7713638, MIM: 154500<li>R->K at 1030: in a colorectal cancer sample; somatic mutation, MIM: 154500<li>A->V at 1390: in dbSNP:rs15251, MIM: 154500<li>D->G at 1432, MIM: 154500</ul>								Treacher Collins syndrome (TCS) [MIM:154500]	<li>rs2071240</li><li>rs15251</li><li>rs7713638</li>	2
Q13438	10956	<ul><li>R->W at 398: in dbSNP:rs1804598<li>S->L at 454: in dbSNP:rs34764811</ul>									<li>rs1804598</li><li>rs34764811</li>	2
Q13439	2803	<ul><li>Q->K at 1028: in dbSNP:rs11718848<li>N->S at 1552: in dbSNP:rs9840779<li>R->S at 2058: in dbSNP:rs11924014</ul>									<li>rs11924014</li><li>rs9840779</li><li>rs11718848</li>	2
Q13445	11018	<ul><li>D->N at 102: in a breast cancer sample; somatic mutation</ul>										2
Q13454	7991	<ul><li>I->V at 65: in dbSNP:rs11545035</ul>									rs11545035	2
Q13461	2301	<ul><li>G->A at 196<li>S->G at 300</ul>										2
Q13464	6093	<ul><li>S->N at 108: in dbSNP rsrs55811609<li>T->S at 773: in dbSNP rsrs45562542<li>T->P at 1112: in dbSNP rsrs35881519<li>P->S at 1193: in a lung neuroendocrine carcinoma sample; somatic mutation<li>Q->E at 1217<li>R->Q at 1262<li>C->R at 1264</ul>									<li>rs45562542</li><li>rs55811609</li><li>rs35881519</li>	2
Q13465	4197	<ul><li>P->S at 120: in dbSNP:rs7622799</ul>									rs7622799	2
Q13467	7855	<ul><li>P->L at 216: in dbSNP:rs35994626</ul>									rs35994626	2
Q13469	4773	<ul><li>H->R at 446: in dbSNP:rs12479626</ul>									rs12479626	2
Q13470	8711	<ul><li>V->I at 278: in dbSNP rsrs55939858<li>R->K at 339: in a lung adenocarcinoma sample; somatic mutation<li>T->K at 514<li>R->C at 539<li>S->C at 546<li>V->M at 598</ul>									rs55939858	2
Q13472	7156	<ul><li>D->N at 459: in dbSNP:rs28671051<li>C->Y at 596<li>D->N at 742: in dbSNP:rs9909732<li>N->D at 773: in dbSNP:rs9911283</ul>									<li>rs28671051</li><li>rs9909732</li><li>rs9911283</li>	2
Q13474	1821	<ul><li>V->L at 68: in dbSNP:rs7066252</ul>									rs7066252	2
Q13477	8174	<ul><li>S->SPESPDTTSQEP at 253<li>P->H at 300: in dbSNP:rs3745925</ul>									rs3745925	2
Q13478	8809	<ul><li>R->H at 210: in dbSNP:rs11465635<li>N->K at 232: in dbSNP:rs11465644<li>S->N at 310: in dbSNP:rs11465648<li>Missing at 317<li>G->R at 423: in dbSNP:rs12619169</ul>									<li>rs11465644</li><li>rs12619169</li><li>rs11465635</li><li>rs11465648</li>	2
Q13480	2549	<ul><li>Y->C at 83: in a breast cancer sample; somatic mutation<li>P->L at 311: in dbSNP:rs28925904<li>T->I at 377: in dbSNP:rs2229879<li>T->N at 387: in a breast cancer sample; somatic mutation</ul>									<li>rs2229879</li><li>rs28925904</li>	2
Q13485	4089	<ul><li>W->G at 101: in dbSNP:rs2229083<li>P->S at 130: in a colorectal cancer sample; somatic mutation<li>E->G at 330: in JPS, MIM: 174900<li>D->N at 351: in a colorectal cancer sample; somatic mutation, MIM: 174900<li>G->R at 352: in JP/HHT and JPS, MIM: 175050<li>R->C at 361: in JPS, MIM: 174900<li>R->H at 361: in a colorectal cancer sample; somatic mutation, MIM: 174900<li>G->D at 386: in JP/HHT: in dbSNP rsrs28936393, MIM: 175050<li>D->H at 493: in pancreatic carcinoma: in dbSNP rsrs28936392, MIM: 260350</ul>								<li>Pancreatic carcinoma [MIM:260350]</li><li>Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]</li><li>Juvenile polyposis syndrome (JPS) [MIM:174900]</li>	<li>rs2229083</li><li>rs28936393</li><li>rs28936392</li>	2
Q13487	6618	<ul><li>L->V at 118: in dbSNP:rs475002</ul>									rs475002	2
Q13488	10312	<ul><li>R->W at 56: in dbSNP:rs36027301<li>A->P at 141: in OPTB1, MIM: 259700<li>P->L at 161: in dbSNP:rs34227834, MIM: 259700<li>G->R at 405: in OPTB1, MIM: 259700<li>R->L at 444: in OPTB1, MIM: 259700<li>Missing  at 462: in OPTB1, MIM: 259700<li>D->N at 517: in OPTB1, MIM: 259700<li>P->R at 775: in OPTB1, MIM: 259700</ul>								Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	<li>rs36027301</li><li>rs34227834</li>	2
Q13489	330	<ul><li>K->R at 260: in dbSNP:rs2276113<li>V->M at 386: in dbSNP:rs12222256<li>R->K at 401: in dbSNP:rs17881197</ul>									<li>rs17881197</li><li>rs2276113</li><li>rs12222256</li>	2
Q13490	329	<ul><li>M->I at 453: in dbSNP:rs34749508<li>M->V at 453<li>A->V at 506: in dbSNP rsrs34510872<li>P->S at 549: in dbSNP rsrs35494784</ul>									<li>rs34510872</li><li>rs34749508</li><li>rs35494784</li>	2
Q13492	8301	<ul><li>T->P at 158: in dbSNP:rs12800974<li>S->F at 383: in dbSNP:rs12222608<li>W->C at 578: in dbSNP:rs1043858<li>Q->E at 579: in dbSNP:rs1043859<li>F->L at 641: in dbSNP:rs556337</ul>									<li>rs1043858</li><li>rs1043859</li><li>rs12800974</li><li>rs556337</li><li>rs12222608</li>	2
Q13495	10046	<ul><li>P->S at 359: in dbSNP:rs41313406<li>Q->R at 580<li>N->S at 662: in dbSNP:rs2073043</ul>									<li>rs41313406</li><li>rs2073043</li>	2
Q13496	4534	<ul><li>Missing  at 47: in XCNM<li>V->F at 49: in XCNM, MIM: 310400<li>Y->D at 68: in XCNM, MIM: 310400<li>R->C at 69: in XCNM; mild, MIM: 310400<li>R->P at 69: in XCNM, MIM: 310400<li>R->S at 69: in XCNM; severe, MIM: 310400<li>L->F at 70: in XCNM; mild, MIM: 310400<li>L->P at 87: in XCNM; mild, MIM: 310400<li>E->K at 157: in XCNM, MIM: 310400<li>P->S at 179: in XCNM; mild, MIM: 310400<li>N->K at 180: in XCNM; very mild, MIM: 310400<li>R->G at 184: in XCNM; severe, MIM: 310400<li>R->L at 184: in XCNM, MIM: 310400<li>T->I at 186: in XCNM, MIM: 310400<li>N->S at 189: in XCNM, MIM: 310400<li>T->I at 197: in XCNM, MIM: 310400<li>Y->N at 198: in XCNM; severe, MIM: 310400<li>P->S at 199: in XCNM, MIM: 310400<li>L->S at 202: in XCNM; severe, MIM: 310400<li>P->L at 205: in XCNM; severe, MIM: 310400<li>I->T at 225: in XCNM; mild, MIM: 310400<li>P->T at 226: in XCNM, MIM: 310400<li>V->M at 227: in XCNM, MIM: 310400<li>L->P at 228: in XCNM, MIM: 310400<li>S->P at 229: in XCNM; mild, MIM: 310400<li>W->C at 230: in XCNM, MIM: 310400<li>H->R at 232: in XCNM, MIM: 310400<li>R->C at 241: in XCNM; mild to moderate, MIM: 310400<li>R->L at 241: in XCNM; severe, MIM: 310400<li>I->S at 264: in XCNM; severe, MIM: 310400<li>A->G at 279: in XCNM, MIM: 310400<li>Missing  at 294: in XCNM; mild, MIM: 310400<li>M->R at 317: in XCNM; mild, MIM: 310400<li>W->C at 346: in XCNM; mild, MIM: 310400<li>W->S at 346: in XCNM, MIM: 310400<li>V->G at 364: in XCNM, MIM: 310400<li>H->D at 374: in XCNM, MIM: 310400<li>S->N at 376: in XCNM, MIM: 310400<li>G->E at 378: in XCNM, MIM: 310400<li>G->R at 378: in XCNM; severe, MIM: 310400<li>A->D at 389: in XCNM; severe, MIM: 310400<li>L->P at 391: in XCNM, MIM: 310400<li>Y->C at 397: in XCNM; severe, MIM: 310400<li>G->A at 402: in XCNM; mild, MIM: 310400<li>G->R at 402: in XCNM, MIM: 310400<li>G->V at 402: in XCNM, MIM: 310400<li>E->K at 404: in XCNM; mild, MIM: 310400<li>L->P at 406: in XCNM; severe, MIM: 310400<li>W->C at 411: in XCNM, MIM: 310400<li>S->SFIQ at 420: in XCNM; severe, MIM: 310400<li>R->Q at 421: in XCNM; severe, MIM: 310400<li>R->RFIQ at 421: in XCNM; severe, MIM: 310400<li>D->N at 431: in XCNM, MIM: 310400<li>D->N at 433: in XCNM, MIM: 310400<li>C->Y at 444: in XCNM, MIM: 310400<li>H->P at 469: in XCNM, MIM: 310400<li>L->P at 470: in XCNM; severe, MIM: 310400<li>N->Y at 481: in XCNM; mild, MIM: 310400<li>W->R at 499: in XCNM; mild, MIM: 310400<li>K->N at 510: in XCNM; severe, MIM: 310400</ul>								X-linked centronuclear myopathy X-linked (XCNM) [MIM:310400]		2
Q13501	8878	<ul><li>A->V at 117<li>E->Q at 274<li>P->L at 387: in PDB, MIM: 602080<li>P->L at 392: in PDB; no effect on polyubiquitin-binding, MIM: 602080<li>S->P at 399: in PDB, MIM: 602080<li>M->T at 404: in PDB, MIM: 602080<li>M->V at 404: in PDB; loss of polyubiquitin-binding, MIM: 602080<li>G->S at 411: in PDB; no effect on polyubiquitin-binding, MIM: 602080<li>G->R at 425: in PDB; loss of polyubiquitin-binding, MIM: 602080</ul>			binding	GO:0005488				Sporadic and familial Paget disease of bone (PDB) [MIM:602080]		2
Q13505	4580	<ul><li>T->S at 63: in dbSNP:rs760077</ul>									rs760077	2
Q13510		<ul><li>Q->H at 22: in FD, MIM: 228000<li>H->D at 23: in FD, MIM: 228000<li>Y->C at 36: in FD, MIM: 228000<li>M->V at 72: in dbSNP:rs1071645, MIM: 228000<li>V->I at 93: in dbSNP:rs1049874, MIM: 228000<li>Missing  at 96: in FD, MIM: 228000<li>V->E at 97: in FD, MIM: 228000<li>D->E at 124: in dbSNP:rs2472205, MIM: 228000<li>E->V at 138: in FD, MIM: 228000<li>L->V at 182: in FD, MIM: 228000<li>T->K at 222: in FD, MIM: 228000<li>G->R at 235: in FD, MIM: 228000<li>A->V at 246: in dbSNP:rs10103355, MIM: 228000<li>R->G at 254: in FD, MIM: 228000<li>N->D at 320: in FD, MIM: 228000<li>P->R at 362: in FD, MIM: 228000<li>V->I at 369: in dbSNP:rs17636067, MIM: 228000</ul>								Farber disease (FD) [MIM:228000]	<li>rs17636067</li><li>rs1071645</li><li>rs1049874</li><li>rs2472205</li><li>rs10103355</li>	2
Q13515	8419	<ul><li>Missing  at 233: in autosomal dominant multiple types cataract type 1; congenital<li>R->W at 287: in autosomal dominant multiple types cataract type 1; juvenile-onset, MIM: 611597</ul>								Autosomal dominant multiple types cataract type 1 [MIM:611597]		2
Q13520	363	<ul><li>V->I at 234: in dbSNP:rs17124220</ul>									rs17124220	2
Q13522	5502	<ul><li>G->E at 109: in dbSNP:rs1249958<li>G->D at 147: in dbSNP:rs34376731</ul>									<li>rs34376731</li><li>rs1249958</li>	2
Q13523	8899	<ul><li>V->I at 83: in dbSNP:rs9503893<li>I->V at 584: in dbSNP rsrs56267049<li>F->L at 658: in a breast cancer sample; somatic mutation</ul>									<li>rs9503893</li><li>rs56267049</li>	2
Q13530	10955	<ul><li>T->A at 437</ul>										2
Q13535	545	<ul><li>T->A at 64: in dbSNP rsrs35306038<li>H->Y at 90: in dbSNP rsrs28897763<li>M->T at 211: in dbSNP:rs2227928<li>K->N at 297: in dbSNP:rs2229033<li>V->I at 316: in dbSNP:rs28897764<li>V->M at 959: in dbSNP:rs28910271<li>Y->H at 1087: in dbSNP rsrs34253059<li>S->G at 1213: in dbSNP rsrs34766606<li>A->P at 1488: in a lung squamous cell carcinoma sample; somatic mutation<li>I->V at 1526: in dbSNP:rs34124242<li>S->N at 1607: in dbSNP rsrs55724025<li>N->S at 1612: in dbSNP rsrs55894265<li>A->G at 2002: in a lung adenocarcinoma sample; somatic mutation<li>G->A at 2120: in dbSNP rsrs35134774<li>Y->D at 2132: in dbSNP:rs28910273<li>S->I at 2233: in a lung large cell carcinoma sample; somatic mutation<li>R->Q at 2425: in dbSNP:rs2229032<li>P->A at 2434: in dbSNP:rs33972295<li>E->K at 2438: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>E->Q at 2537: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>									<li>rs33972295</li><li>rs28910271</li><li>rs35134774</li><li>rs28910273</li><li>rs34124242</li><li>rs55724025</li><li>rs55894265</li><li>rs2229033</li><li>rs2229032</li><li>rs2227928</li><li>rs34253059</li><li>rs35306038</li><li>rs28897763</li><li>rs34766606</li><li>rs28897764</li>	2
Q13546	8737	<ul><li>A->V at 64: in a colorectal adenocarcinoma sample; somatic mutation<li>V->I at 81: in a colorectal adenocarcinoma sample; somatic mutation<li>A->V at 220: in a colorectal adenocarcinoma sample; somatic mutation<li>E->K at 234: in dbSNP:rs17548383<li>A->S at 404: in dbSNP rsrs34872409<li>A->V at 443: in dbSNP rsrs35722193<li>A->V at 569: in dbSNP rsrs55861377</ul>									<li>rs17548383</li><li>rs55861377</li><li>rs35722193</li><li>rs34872409</li>	2
Q13554	816	<ul><li>P->L at 488: in a colorectal adenocarcinoma sample; somatic mutation<li>E->K at 509: in dbSNP rsrs35452727</ul>									rs35452727	2
Q13555	818	<ul><li>S->P at 36: in dbSNP:rs17853266</ul>									rs17853266	2
Q13557	817	<ul><li>D->E at 167: in dbSNP rsrs35367671<li>Q->E at 463: in dbSNP:rs1053668<li>T->I at 493: in dbSNP:rs35765784</ul>									<li>rs1053668</li><li>rs35765784</li><li>rs35367671</li>	2
Q13562	4760	<ul><li>A->T at 45: in dbSNP:rs1801262<li>R->L at 111: in MODY6, MIM: 606394<li>P->H at 197: in dbSNP:rs8192556, MIM: 606394</ul>								Maturity onset diabetes of the young type 6 (MODY6) [MIM:606394]	<li>rs1801262</li><li>rs8192556</li>	2
Q13563	5311	<ul><li>R->P at 28: common polymorphism: in dbSNP rsrs1805044<li>A->P at 356: in ADPKD2, MIM: 173900<li>W->G at 414: in ADPKD2, MIM: 173900<li>I->V at 452: in dbSNP:rs1801612, MIM: 173900<li>Missing  at 479: in ADPKD2; somatic mutation, MIM: 173900<li>Missing  at 504-512: in ADPKD2; somatic mutation, MIM: 173900<li>Missing  at 684: in ADPKD2; somatic mutation, MIM: 173900</ul>								Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:173900]	<li>rs1805044</li><li>rs1801612</li>	2
Q13564	8883	<ul><li>S->F at 101: in dbSNP:rs363212</ul>									rs363212	2
Q13569	6996	<ul><li>G->S at 199: in dbSNP:rs4135113<li>V->M at 367: in dbSNP rsrs2888805<li>G->E at 381: in dbSNP:rs3953597</ul>									<li>rs4135113</li><li>rs3953597</li><li>rs2888805</li>	2
Q13571	7805	<ul><li>R->K at 226: in dbSNP:rs35351292</ul>									rs35351292	2
Q13574	8525	<ul><li>Q->R at 21: in dbSNP:rs1317826</ul>									rs1317826	2
Q13591	9037	<ul><li>V->L at 246: in dbSNP:rs1806079<li>S->L at 792: in dbSNP:rs2290734</ul>									<li>rs2290734</li><li>rs1806079</li>	2
Q13596	6642	<ul><li>S->Y at 115: in dbSNP:rs1049501<li>D->N at 466: in dbSNP:rs1802376</ul>									<li>rs1049501</li><li>rs1802376</li>	2
Q13601	11103	<ul><li>R->Q at 134: in dbSNP:rs11540407</ul>									rs11540407	2
Q13606	10798	<ul><li>R->G at 6: in dbSNP:rs17597625<li>L->S at 50: in dbSNP:rs4367963<li>F->S at 76: in dbSNP:rs9666086<li>V->I at 306: in dbSNP:rs9665861</ul>									<li>rs17597625</li><li>rs9666086</li><li>rs4367963</li><li>rs9665861</li>	2
Q13607	26211	<ul><li>R->C at 122: in dbSNP:rs2072164<li>H->R at 137: in dbSNP:rs2072165</ul>									<li>rs2072165</li><li>rs2072164</li>	2
Q13608	5190	<ul><li>A->V at 809: in dbSNP:rs35830695<li>R->Q at 812: in ZWS, MIM: 214100<li>R->W at 812: in ZWS; atypical, MIM: 214100<li>V->I at 882: in dbSNP:rs2274516, MIM: 214100<li>P->Q at 939: in dbSNP:rs1129187, MIM: 214100</ul>								Zellweger syndrome (ZWS) [MIM:214100]	<li>rs2274516</li><li>rs1129187</li><li>rs35830695</li>	2
Q13609	1776	<ul><li>L->V at 19: in a breast cancer sample; somatic mutation<li>G->R at 82: in a breast cancer sample; somatic mutation<li>Y->S at 117: in a colorectal cancer sample; somatic mutation</ul>										2
Q13610	11137	<ul><li>L->F at 288: in dbSNP:rs11547907</ul>									rs11547907	2
Q13614	8898	<ul><li>K->T at 3: in dbSNP:rs3824874<li>R->W at 283: in CMT4B1, MIM: 601382<li>N->S at 545: in dbSNP:rs558018, MIM: 601382</ul>								Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]	<li>rs3824874</li><li>rs558018</li>	2
Q13615	8897	<ul><li>V->L at 221: in a breast cancer sample; somatic mutation</ul>										2
Q13617	8453	<ul><li>N->S at 109: in dbSNP:rs1131503</ul>									rs1131503	2
Q13618	8452	<ul><li>D->H at 13: in dbSNP:rs2969802<li>R->S at 184: in dbSNP:rs17480168<li>V->I at 567: in dbSNP:rs3738952</ul>									<li>rs3738952</li><li>rs2969802</li><li>rs17480168</li>	2
Q13619	8451	<ul><li>K->R at 614: in dbSNP:rs2302757<li>K->R at 644: in dbSNP:rs2302757</ul>									rs2302757	2
Q13620	8450	<ul><li>L->P at 85<li>T->I at 195: in MRXC; could be a rare polymorphism, MIM: 300354<li>R->C at 554: in MRXC, MIM: 300354<li>V->A at 727: in MRXC, MIM: 300354</ul>								Cabezas X-linked mental retardation syndrome (MRXC) [MIM:300354]		2
Q13621	6557	<ul><li>V->F at 272: in BS1, MIM: 601678<li>D->N at 648: in BS1, MIM: 601678<li>V->A at 958: in dbSNP:rs1552311, MIM: 601678</ul>							P21464	Bartter syndrome type 1 (BS1) [MIM:601678]	rs1552311	2
Q13627	1859	<ul><li>Y->F at 415<li>A->P at 679: in dbSNP rsrs55720916<li>Q->H at 681</ul>									rs55720916	2
Q13635	5727	<ul><li>L->P at 175: in BCNS; sporadic BCC, MIM: 109400<li>T->P at 230: in BCNS, MIM: 109400<li>F->S at 376: in BCNS, MIM: 109400<li>A->T at 393: in HPE7, MIM: 610828<li>A->G at 443: in HPE7, MIM: 610828<li>FL->LR at 505-506: in BCNS, MIM: 610828<li>G->R at 509: in BCNS; could be a rare polymorphism, MIM: 109400<li>G->V at 509: in BCNS, MIM: 109400<li>D->Y at 513: in BCNS, MIM: 109400<li>T->M at 728: in HPE7: in dbSNP rsrs28936404, MIM: 610828<li>V->G at 751: in HPE7, MIM: 610828<li>I->IPNI at 815: in BCNS, MIM: 610828<li>Missing  at 816: in BCNS, MIM: 610828<li>S->G at 827: in HPE7, MIM: 610828<li>V->M at 829: in squamous cell carcinoma, MIM: 610828<li>V->G at 908: in HPE7, MIM: 610828<li>T->M at 1052: in HPE7: in dbSNP rsrs28936405, MIM: 610828<li>G->R at 1069: in BCNS, MIM: 109400<li>V->VV at 1083: in BCNS, MIM: 109400<li>R->W at 1114: in BCNS and BCC, MIM: 605462<li>S->P at 1132: in BCNS, MIM: 109400<li>S->Y at 1132: in BCNS, MIM: 109400<li>T->S at 1195: in dbSNP:rs2236405, MIM: 109400<li>E->K at 1242: in squamous cell carcinoma, MIM: 109400<li>P->L at 1282: in dbSNP:rs2227968, MIM: 109400<li>P->L at 1315: in dbSNP:rs357564, MIM: 109400<li>E->D at 1438: in BCNS; sporadic NBCCS, MIM: 109400</ul>								<li>Holoprosencephaly type 7 (HPE7) [MIM:610828]</li><li>Sporadic basal cell carcinoma (BCC) [MIM:605462]</li><li>Basal cell nevus syndrome (BCNS) [MIM:109400]</li>	<li>rs357564</li><li>rs28936404</li><li>rs2236405</li><li>rs28936405</li><li>rs2227968</li>	2
Q13639	3360	<ul><li>C->Y at 372: in dbSNP:rs34826744</ul>									rs34826744	2
Q13642	2273	<ul><li>W->S at 122: in X-linked dominant scapuloperoneal myopathy, MIM: 300695<li>H->Y at 123: in RBM; X-linked severe early-onset; the mutant protein initiates aggregation of the FHL1 protein, forms reducing bodies and traps wild-type FHL1 into the inclusion bodies; consistent with a dominant-negative effect, MIM: 300717<li>T->TI at 128: in XMPMA, MIM: 300717<li>C->F at 132: in RBM; X-linked severe early-onset; the mutant protein initiates aggregation of the FHL1 protein, forms reducing bodies and traps wild-type FHL1 into the inclusion bodies; consistent with a dominant-negative effect, MIM: 300717<li>C->R at 153: in RBM; X-linked childhood-onset, MIM: 300717<li>C->Y at 153: in RBM; X-linked childhood-onset, MIM: 300717<li>C->W at 224: in XMPMA, MIM: 300696</ul>					inclusion bodies	GO:0016234	<li>P39521</li><li>Q13642</li>	<li>X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]</li><li>X-linked dominant scapuloperoneal myopathy [MIM:300695]</li><li>X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]</li><li>X-linked childhood-onset reducing body myopathy (RBM) [MIM:300718]</li>		2
Q13651	3587	<ul><li>L->V at 61: in dbSNP:rs4252250<li>V->I at 113: in dbSNP:rs4252303<li>S->G at 159: in dbSNP:rs3135932<li>R->Q at 212: in dbSNP:rs4252273<li>I->V at 224: in dbSNP:rs2228055<li>G->R at 351: in dbSNP:rs2229113<li>P->S at 353: in dbSNP:rs35235073<li>S->L at 420: in dbSNP:rs2229114</ul>									<li>rs3135932</li><li>rs2229114</li><li>rs2228055</li><li>rs4252273</li><li>rs4252303</li><li>rs2229113</li><li>rs35235073</li><li>rs4252250</li>	2
Q13683	3679	<ul><li>H->R at 695: in dbSNP:rs1800974</ul>									rs1800974	2
Q13685	14	<ul><li>I->V at 250: in dbSNP:rs2305835</ul>									rs2305835	2
Q13686	8846	<ul><li>M->I at 135: in dbSNP:rs17825440<li>M->L at 324: in dbSNP:rs6494</ul>									<li>rs6494</li><li>rs17825440</li>	2
Q13698	779	<ul><li>A->G at 69: in dbSNP:rs12406479<li>L->H at 458: in dbSNP:rs12742169<li>R->G at 528: in HOKPP, MIM: 170400<li>R->H at 528: in HOKPP, MIM: 170400<li>R->S at 900: in HOKPP, MIM: 170400<li>R->H at 1086: in MSH5: in dbSNP rsrs1800559, MIM: 170400<li>R->G at 1239: in HOKPP: in dbSNP rsrs28930069, MIM: 170400<li>R->H at 1239: in HOKPP: in dbSNP rsrs28930068, MIM: 170400<li>R->C at 1539: in dbSNP:rs3850625, MIM: 170400<li>R->H at 1658: in dbSNP:rs13374149, MIM: 170400<li>L->S at 1800: in dbSNP:rs12139527, MIM: 170400<li>E->D at 1840: in dbSNP:rs1042379, MIM: 170400</ul>							<li>Q12175</li><li>O43196</li>	Periodic paralysis hypokalemic (HOKPP) [MIM:170400]	<li>rs28930069</li><li>rs12139527</li><li>rs12406479</li><li>rs28930068</li><li>rs1042379</li><li>rs1800559</li><li>rs13374149</li><li>rs3850625</li><li>rs12742169</li>	2
Q13702	5913	<ul><li>Q->K at 8: in dbSNP:rs11556408<li>L->P at 14: in CMS1D, MIM: 608931<li>V->M at 45: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931<li>N->K at 88: in CMS1D, MIM: 608931<li>F->S at 139: in FADS, MIM: 208150<li>E->K at 162: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931<li>R->C at 164: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931<li>A->V at 189: in FADS, MIM: 208150<li>L->P at 283: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931</ul>								<li>Congenital myasthenic syndrome type 1d (CMS1D) [MIM:608931]</li><li>Fetal akinesia deformation sequence (FADS) [MIM:208150]</li>	rs11556408	2
Q13705	93	<ul><li>R->H at 40: in left-right axis malformations, MIM: 602730<li>P->R at 176: in dbSNP rsrs35882617, MIM: 602730<li>E->D at 459: in dbSNP:rs500611, MIM: 602730<li>V->I at 494: in left-right axis malformations, MIM: 602730</ul>								Left-right axis malformations [MIM:602730]	<li>rs35882617</li><li>rs500611</li>	2
Q13724	7841	<ul><li>G->R at 222: in dbSNP:rs3213671<li>E->Q at 236: in dbSNP rsrs1063587<li>D->N at 239: in dbSNP:rs1063588<li>P->S at 293: in dbSNP:rs2268416<li>R->T at 486: in CDGIIb; loss of activity, MIM: 606056<li>R->P at 495: in dbSNP:rs34075781, MIM: 606056<li>F->L at 652: in CDGIIb; loss of activity, MIM: 606056<li>G->S at 785: in dbSNP:rs35533773, MIM: 606056</ul>								Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]	<li>rs1063587</li><li>rs3213671</li><li>rs34075781</li><li>rs35533773</li><li>rs2268416</li><li>rs1063588</li>	2
Q13733	480	<ul><li>G->D at 83: in dbSNP:rs6427504<li>E->K at 297: in dbSNP:rs17368402<li>M->R at 541: in dbSNP:rs16831482<li>M->I at 586: in dbSNP:rs7528360</ul>									<li>rs16831482</li><li>rs17368402</li><li>rs6427504</li><li>rs7528360</li>	2
Q13740	214	<ul><li>G->D at 229: in dbSNP:rs10933819<li>N->S at 258: in dbSNP:rs1044240<li>T->M at 301: in dbSNP:rs1044243<li>L->M at 315: in dbSNP:rs12629872<li>V->M at 352: in dbSNP:rs2291375<li>M->I at 367: in dbSNP:rs34926152</ul>									<li>rs34926152</li><li>rs1044240</li><li>rs10933819</li><li>rs2291375</li><li>rs1044243</li><li>rs12629872</li>	2
Q13748	113457	<ul><li>V->L at 75: in dbSNP:rs36215077<li>D->V at 392: in dbSNP:rs17076703<li>V->M at 440: in dbSNP:rs1803092</ul>									<li>rs36215077</li><li>rs1803092</li><li>rs17076703</li>	2
Q13751	3914	<ul><li>N->D at 181: in dbSNP:rs2235542<li>G->A at 199: in GABEB; somatic second-site mutation, MIM: 226650<li>K->Q at 207: in GABEB; somatic second-site mutation, MIM: 226650<li>E->K at 210: in GABEB, MIM: 226650<li>R->L at 292: in dbSNP:rs12091253, MIM: 226650<li>S->T at 438: in dbSNP:rs2229468, MIM: 226650<li>R->C at 450: in a colorectal cancer sample; somatic mutation, MIM: 226650<li>V->M at 527: in dbSNP:rs2076349, MIM: 226650<li>P->L at 679: in H-JEB, MIM: 226700<li>N->S at 690: in dbSNP:rs2229466, MIM: 226700<li>M->L at 852: in dbSNP:rs12748250, MIM: 226700<li>A->D at 926: in dbSNP:rs2076222, MIM: 226700<li>R->W at 988: in dbSNP:rs2229467, MIM: 226700</ul>								<li>Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]</li><li>Epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]</li>	<li>rs2076349</li><li>rs2076222</li><li>rs12748250</li><li>rs2229466</li><li>rs2235542</li><li>rs2229467</li><li>rs2229468</li><li>rs12091253</li>	2
Q13753	3918	<ul><li>A->P at 111: in dbSNP:rs12065473<li>R->Q at 115: in dbSNP:rs17481405<li>T->M at 124: in dbSNP:rs11586699<li>D->V at 136: in dbSNP:rs12037099<li>D->E at 247: in dbSNP:rs2296306<li>S->I at 608: in dbSNP:rs4373715<li>S->T at 733: in dbSNP:rs2296303</ul>									<li>rs12037099</li><li>rs4373715</li><li>rs11586699</li><li>rs12065473</li><li>rs2296306</li><li>rs2296303</li><li>rs17481405</li>	2
Q13769	8563	<ul><li>T->K at 380: in a breast cancer sample; somatic mutation<li>T->S at 475: in dbSNP:rs8141153<li>G->S at 499: in a breast cancer sample; somatic mutation<li>I->V at 525: in dbSNP:rs737976<li>I->V at 579: in dbSNP:rs1049534</ul>									<li>rs1049534</li><li>rs737976</li><li>rs8141153</li>	2
Q13772	8031	<ul><li>S->L at 94<li>F->L at 154<li>C->R at 350<li>P->R at 474: in dbSNP:rs1132111<li>L->P at 561</ul>									rs1132111	2
Q13795	10139	<ul><li>L->V at 108: in a breast cancer sample; somatic mutation</ul>										2
Q13796	357	<ul><li>D->E at 942: in dbSNP:rs16985780<li>D->H at 1245: in a breast cancer sample; somatic mutation<li>I->V at 1475: in dbSNP:rs12012202<li>L->F at 1607: in dbSNP:rs2073942</ul>									<li>rs12012202</li><li>rs2073942</li><li>rs16985780</li>	2
Q13797		<ul><li>G->E at 507: in dbSNP:rs267561<li>R->C at 750: in a breast cancer sample; somatic mutation</ul>									rs267561	2
Q13813	6709	<ul><li>N->S at 385: in dbSNP:rs2227863<li>S->C at 904: in a breast cancer sample; somatic mutation<li>P->S at 1017: in a breast cancer sample; somatic mutation<li>I->T at 1300: in dbSNP:rs1048236<li>R->W at 1794: in a breast cancer sample; somatic mutation<li>D->N at 1918: in a breast cancer sample; somatic mutation</ul>									<li>rs2227863</li><li>rs1048236</li>	2
Q13823	29889	<ul><li>Q->H at 452: in dbSNP:rs12025870</ul>									rs12025870	2
Q13825	549	<ul><li>A->V at 240: in MGA1, MIM: 250950</ul>							P53050	3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]		2
Q13835	5317	<ul><li>R->H at 116: in dbSNP:rs34626929<li>C->Y at 161: in dbSNP:rs34704938<li>I->V at 196: in dbSNP:rs35507614<li>G->D at 415: in dbSNP:rs1626370</ul>									<li>rs34626929</li><li>rs35507614</li><li>rs34704938</li><li>rs1626370</li>	2
Q13867	642	<ul><li>I->V at 443: common polymorphism; dbSNP:rs1050565</ul>									rs1050565	2
Q13873	659	<ul><li>C->Y at 60: in PPH1, MIM: 178600<li>Q->H at 82: in PPH1, MIM: 178600<li>C->Y at 117: in PPH1, MIM: 178600<li>C->W at 118: in PPH1, MIM: 178600<li>C->R at 123: in PPH1, MIM: 178600<li>C->S at 123: in PPH1, MIM: 178600<li>G->D at 182: in PPH1, MIM: 178600<li>E->D at 224, MIM: 178600<li>C->Y at 347: in PPH1, MIM: 178600<li>C->R at 420: in PPH1, MIM: 178600<li>C->R at 483: in PPH1; sporadic, MIM: 178600<li>D->G at 485: in PPH1; complete loss of function, MIM: 178600<li>R->Q at 491: in PPH1; sporadic, MIM: 178600<li>R->W at 491: in PPH1, MIM: 178600<li>K->T at 512: in PPH1, MIM: 178600<li>N->K at 519: in PPH1, MIM: 178600<li>S->N at 775: in dbSNP:rs2228545, MIM: 178600<li>R->P at 899: in PPH1; leads to constitutive activation of the MAPK14 pathway, MIM: 178600</ul>							<li>Q95NE7</li><li>O02812</li><li>P49599</li><li>Q16539</li><li>Q13873</li><li>P20604</li>	Primary pulmonary hypertension (PPH1) [MIM:178600]	rs2228545	2
Q13882	5753	<ul><li>L->F at 16: in a renal papillary sample; somatic mutation<li>A->T at 436: in dbSNP rsrs56145017</ul>									rs56145017	2
Q13885	7280	<ul><li>R->W at 62: in a colorectal cancer sample; somatic mutation</ul>										2
Q13887	688	<ul><li>P->S at 301: in a colorectal cancer sample; somatic mutation</ul>										2
Q13888	2966	<ul><li>I->M at 151<li>V->L at 236</ul>										2
Q13895	705	<ul><li>E->K at 103: in dbSNP:rs2296916<li>P->S at 426: in dbSNP:rs3828855</ul>									<li>rs3828855</li><li>rs2296916</li>	2
Q13901	10438	<ul><li>S->P at 127: in dbSNP:rs10444</ul>									rs10444	2
Q13936	775	<ul><li>A->V at 39: in BRS3; loss of function, MIM: 611875<li>Q->R at 84: in dbSNP:rs1051345, MIM: 611875<li>I->L at 391: in dbSNP:rs1051356, MIM: 611875<li>G->S at 402: in TS, MIM: 601005<li>G->R at 406: in TS; causes a nearly complete loss of voltage-dependent channel inactivation, MIM: 601005<li>G->R at 490: in BRS3; loss of function, MIM: 611875<li>A->T at 752, MIM: 611875<li>A->T at 2169, MIM: 611875</ul>							<li>Q6H2Y3</li><li>P35371</li><li>P32247</li><li>O97967</li>	<li>Brugada syndrome type 3 (BRS3) [MIM:611875]</li><li>Timothy syndrome (TS) [MIM:601005]</li>	<li>rs1051345</li><li>rs1051356</li>	2
Q13938	828	<ul><li>R->G at 39: in dbSNP:rs7249419</ul>									rs7249419	2
Q13939	881	<ul><li>S->N at 75: in dbSNP:rs34789048</ul>									rs34789048	2
Q13948	1523	<ul><li>A->T at 464: in dbSNP:rs803064<li>S->G at 490: in a breast cancer sample; somatic mutation<li>I->V at 545: in dbSNP:rs2230103<li>R->C at 609: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2230103</li><li>rs803064</li>	2
Q13950	860	<ul><li>Missing at 78-83<li>A->AAAAAAAAAAA at 84: in CCD associated with brachydactyly of hands and feet<li>L->R at 113: in CCD, MIM: 119600<li>S->R at 118: in CCD, MIM: 119600<li>F->C at 121: in CCD, MIM: 119600<li>C->R at 123: in CCD, MIM: 119600<li>Missing  at 133: in CCD, MIM: 119600<li>R->Q at 169: in CCD, MIM: 119600<li>M->R at 175: in CCD; abolishes DNA binding, MIM: 119600<li>R->Q at 190: in CCD; abolishes DNA binding, MIM: 119600<li>R->W at 190: in CCD, MIM: 119600<li>S->N at 191: in CCD; abolishes DNA binding, MIM: 119600<li>R->C at 193: in CCD, MIM: 119600<li>F->S at 197: in CCD; abolishes DNA binding, MIM: 119600<li>L->F at 199: in CCD; abolishes DNA binding, MIM: 119600<li>T->A at 200: in CCD; mild; associated also with isolated dental anomalies; normal DNA binding, MIM: 119600<li>T->R at 205: in CCD, MIM: 119600<li>Q->R at 209: in CCD, MIM: 119600<li>R->Q at 225: in CCD; interferes with nuclear localization; abolishes DNA binding, MIM: 119600<li>R->W at 225: in CCD; interferes with nuclear localization, MIM: 119600<li>G->S at 511: in CCD; could be a polymorphism, MIM: 119600</ul>	localization	GO:0051179	DNA binding	GO:0003677				Cleidocranial dysplasia (CCD) [MIM:119600]		2
Q13951	865	<ul><li>P->A at 100: in a breast cancer sample; somatic mutation</ul>										2
Q13952	4802	<ul><li>Q->H at 165: in a breast cancer sample; somatic mutation</ul>										2
Q13976	5592	<ul><li>N->S at 267: in dbSNP:rs34997494</ul>									rs34997494	2
Q14002	1087	<ul><li>F->I at 120: in dbSNP:rs8102488<li>A->V at 263: in dbSNP:rs7259532</ul>									<li>rs8102488</li><li>rs7259532</li>	2
Q14003	3748	<ul><li>R->H at 420: in SCA13; loss of channel activity, MIM: 605259<li>F->L at 448: in SCA13; slow channel closing, MIM: 605259</ul>								Spinocerebellar ataxia type 13 (SCA13) [MIM:605259]		2
Q14004	8621	<ul><li>S->F at 340: in dbSNP:rs13622<li>P->A at 356: in dbSNP rsrs17537669<li>L->F at 403: in dbSNP:rs3735137<li>R->Q at 410: in dbSNP rsrs17496261<li>T->A at 494: in dbSNP rsrs34624759<li>T->A at 500: in dbSNP:rs3735135<li>S->G at 624<li>T->R at 670: in dbSNP:rs34775357<li>R->L at 700: in dbSNP:rs1057000<li>V->M at 1062: in dbSNP rsrs17496712<li>V->M at 1170: in dbSNP rsrs3204309</ul>									<li>rs1057000</li><li>rs3204309</li><li>rs13622</li><li>rs17496712</li><li>rs34775357</li><li>rs17537669</li><li>rs34624759</li><li>rs17496261</li><li>rs3735137</li><li>rs3735135</li>	2
Q14005	3603	<ul><li>R->Q at 188: in dbSNP:rs17875512<li>S->L at 205: in dbSNP:rs17875513<li>S->T at 326: in dbSNP:rs34101586<li>N->K at 446: in dbSNP:rs11556218<li>H->R at 475: in dbSNP:rs34159341</ul>									<li>rs17875512</li><li>rs34101586</li><li>rs17875513</li><li>rs34159341</li><li>rs11556218</li>	2
Q14008	9793	<ul><li>Y->C at 785: in dbSNP:rs11038988</ul>									rs11038988	2
Q14012	8536	<ul><li>P->S at 217: in a metastatic melanoma sample; somatic mutation<li>E->K at 361: in dbSNP rsrs56033923</ul>									rs56033923	2
Q14031	1288	<ul><li>S->A at 455: in dbSNP:rs1042065<li>N->K at 1110: in dbSNP:rs1042067<li>P->S at 1126: in dbSNP:rs35179844<li>G->E at 1130: in a colorectal cancer sample; somatic mutation<li>I->V at 1162: in dbSNP:rs34466065<li>L->P at 1362: in dbSNP:rs35363062</ul>									<li>rs34466065</li><li>rs35179844</li><li>rs35363062</li><li>rs1042065</li><li>rs1042067</li>	2
Q14032	570	<ul><li>R->Q at 20: in dbSNP:rs1572983<li>M->V at 76: in FHCA: in dbSNP rsrs28937579, MIM: 607748</ul>								Familial hypercholanemia (FHCA) [MIM:607748]	<li>rs1572983</li><li>rs28937579</li>	2
Q14050	1299	<ul><li>P->S at 94: in dbSNP:rs35908728<li>R->Q at 103<li>R->W at 103<li>P->L at 296: in dbSNP rsrs45628843<li>R->Q at 402<li>A->E at 435: in dbSNP:rs751557<li>Missing at 563-565<li>Missing at 564-566</ul>									<li>rs751557</li><li>rs45628843</li><li>rs35908728</li>	2
Q14055	1298	<ul><li>T->M at 246: in dbSNP rsrs6695686<li>Q->R at 326: in dbSNP:rs2228564<li>Q->W at 326: in IDD; requires 2 nucleotide substitutions, MIM: 603932<li>L->V at 335: in dbSNP rsrs2228567, MIM: 603932<li>V->I at 581: in dbSNP:rs3737821, MIM: 603932</ul>							P98153	Intervertebral disc disease (IDD) [MIM:603932]	<li>rs3737821</li><li>rs2228567</li><li>rs6695686</li><li>rs2228564</li>	2
Q14088	9363	<ul><li>M->T at 102</ul>										2
Q14093	1539	<ul><li>D->Y at 146: in dbSNP:rs13293961<li>G->D at 184: in dbSNP:rs10990424<li>K->E at 190: in dbSNP:rs2298050<li>G->D at 208: in dbSNP:rs2298051<li>A->E at 319: in dbSNP:rs3763636</ul>									<li>rs13293961</li><li>rs3763636</li><li>rs2298051</li><li>rs2298050</li><li>rs10990424</li>	2
Q14094	10983	<ul><li>V->I at 207: in dbSNP:rs4252903</ul>									rs4252903	2
Q14112	22795	<ul><li>P->S at 1238: in a breast cancer sample; somatic mutation</ul>										2
Q14114	7804	<ul><li>R->Q at 25: in dbSNP:rs4926972<li>D->E at 46: in dbSNP:rs3820198<li>V->M at 453: in dbSNP:rs5180<li>W->C at 466: in dbSNP:rs5181<li>Q->R at 607: in dbSNP:rs5172<li>I->L at 611: in dbSNP:rs5170<li>S->T at 653: in dbSNP:rs5171<li>R->Q at 952: associated with susceptibility to myocardial infarction type 1; increases activation of MAPK14 by oxidized low density lipoprotein; dbSNP:rs5174</ul>							<li>Q95NE7</li><li>O02812</li><li>Q16539</li>		<li>rs5180</li><li>rs5181</li><li>rs3820198</li><li>rs5171</li><li>rs5170</li><li>rs4926972</li><li>rs5174</li><li>rs5172</li>	2
Q14117	1807	<ul><li>T->R at 68: in DHP deficiency, MIM: 222748<li>Q->R at 334: in DHP deficiency, MIM: 222748<li>W->R at 360: in DHP deficiency, MIM: 222748<li>G->R at 435: in DHP deficiency, MIM: 222748<li>R->T at 490: in DHP deficiency, MIM: 222748</ul>							<li>Q9EQF5</li><li>Q63150</li><li>Q14117</li>	DHP deficiency [MIM:222748]		2
Q14118	1605	<ul><li>S->W at 14: in dbSNP:rs2131107</ul>									rs2131107	2
Q14126	1829	<ul><li>R->Q at 46: in ARVD10, MIM: 610193<li>R->H at 49: in ARVD10, MIM: 610193<li>Y->C at 89: in dbSNP:rs2230232, MIM: 610193<li>I->V at 293: in dbSNP:rs2230234, MIM: 610193<li>C->Y at 507: in ARVD10, MIM: 610193<li>V->I at 515: in dbSNP:rs2230235, MIM: 610193<li>R->K at 773: in dbSNP:rs2278792, MIM: 610193<li>G->C at 812: in ARVD10, MIM: 610193<li>M->L at 863: in dbSNP:rs16962093, MIM: 610193<li>T->I at 903: in dbSNP:rs34065672, MIM: 610193</ul>								Familial arrhythmogenic right ventricular dysplasia 10 (ARVD10) [MIM:610193]	<li>rs16962093</li><li>rs2278792</li><li>rs2230234</li><li>rs34065672</li><li>rs2230235</li><li>rs2230232</li>	2
Q14129	8214	<ul><li>A->V at 117: in dbSNP:rs16983281</ul>									rs16983281	2
Q14134	23650	<ul><li>S->F at 514: in a breast cancer sample; somatic mutation</ul>										2
Q14135	9686	<ul><li>M->I at 32: in dbSNP:rs2276749</ul>									rs2276749	2
Q14142	9830	<ul><li>V->M at 219: in dbSNP:rs2296079</ul>									rs2296079	2
Q14145	9817	<ul><li>C->Y at 23: in a breast cancer sample; somatic mutation<li>V->F at 167: in a lung adenocarcinoma patient<li>D->H at 236: in a NSCLC cell line<li>Q->L at 284: in a lung adenocarcinoma patient<li>G->C at 333: in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression<li>D->N at 349: in dbSNP:rs1048289<li>G->S at 350: in a NSCLC cell line<li>G->C at 364: in a lung adenocarcinoma cell line; also in NSCLC cell lines; may be a polymorphism; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression<li>G->C at 430: in a lung adenocarcinoma patient; somatic mutation; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression<li>A->V at 522: in a breast cancer sample; somatic mutation</ul>							Q16236		rs1048289	2
Q14146	9816	<ul><li>V->G at 778: in dbSNP:rs3811473<li>V->M at 1400: in dbSNP:rs12142450</ul>									<li>rs3811473</li><li>rs12142450</li>	2
Q14152	8661	<ul><li>E->K at 386: in dbSNP:rs967185<li>K->N at 694: in dbSNP:rs431898<li>D->E at 993: in dbSNP:rs532138</ul>									<li>rs431898</li><li>rs967185</li><li>rs532138</li>	2
Q14154	9812	<ul><li>A->T at 95: in dbSNP:rs17850821<li>F->L at 128: in dbSNP:rs10036567<li>A->T at 247: in dbSNP:rs351260<li>R->C at 468: in dbSNP:rs10056676</ul>									<li>rs10056676</li><li>rs17850821</li><li>rs10036567</li><li>rs351260</li>	2
Q14156	23167	<ul><li>G->R at 358: in dbSNP:rs2270877<li>N->D at 365: in dbSNP:rs1051221</ul>									<li>rs2270877</li><li>rs1051221</li>	2
Q14157	9898	<ul><li>Q->H at 482: in dbSNP:rs17849745</ul>									rs17849745	2
Q14160	23513	<ul><li>L->P at 422: in dbSNP:rs6558394<li>E->V at 674: in dbSNP rsrs10098508</ul>									<li>rs10098508</li><li>rs6558394</li>	2
Q14161	9815	<ul><li>N->S at 338: in dbSNP:rs9804905<li>N->S at 387: in dbSNP:rs925368<li>A->V at 552: in dbSNP:rs11068997</ul>									<li>rs925368</li><li>rs11068997</li><li>rs9804905</li>	2
Q14162	8578	<ul><li>V->A at 425: in dbSNP:rs2272011<li>R->K at 618: in dbSNP:rs35455643<li>D->E at 639: in dbSNP:rs3744644<li>R->W at 662: in dbSNP:rs8072430<li>S->G at 667: in dbSNP:rs4790250<li>G->V at 748: in dbSNP:rs3760460</ul>									<li>rs3760460</li><li>rs8072430</li><li>rs4790250</li><li>rs35455643</li><li>rs2272011</li><li>rs3744644</li>	2
Q14164	9641	<ul><li>E->K at 128: in dbSNP rsrs41296028<li>A->T at 371: in dbSNP:rs17021877<li>T->M at 483: in dbSNP rsrs52817862<li>E->D at 515: in dbSNP rsrs41299015<li>I->M at 543: in dbSNP rsrs41299037<li>A->V at 602: in dbSNP:rs12059562<li>G->E at 660: in dbSNP rsrs55822317<li>P->L at 713: in dbSNP:rs3748022</ul>									<li>rs55822317</li><li>rs12059562</li><li>rs17021877</li><li>rs41299015</li><li>rs3748022</li><li>rs41299037</li><li>rs52817862</li><li>rs41296028</li>	2
Q14166	23170	<ul><li>R->W at 84: in dbSNP:rs138951<li>N->S at 95: in dbSNP:rs13058467<li>V->M at 297: in dbSNP:rs11704935<li>V->M at 464: in dbSNP:rs34074034</ul>									<li>rs13058467</li><li>rs34074034</li><li>rs11704935</li><li>rs138951</li>	2
Q14181	23649	<ul><li>G->R at 583: in dbSNP:rs487989<li>S->N at 588: in dbSNP:rs7123885</ul>									<li>rs7123885</li><li>rs487989</li>	2
Q14183	8448	<ul><li>G->S at 48: in dbSNP:rs1140239</ul>									rs1140239	2
Q14186	7027	<ul><li>D->N at 401: in dbSNP:rs4150823</ul>									rs4150823	2
Q14188	7029	<ul><li>I->T at 64<li>P->S at 81</ul>										2
Q14190	6493	<ul><li>L->M at 483: in dbSNP:rs2073601</ul>									rs2073601	2
Q14191	7486	<ul><li>K->R at 32: in dbSNP rsrs34477820<li>G->V at 92: in a colorectal cancer sample; somatic mutation<li>V->I at 114: in dbSNP:rs2230009<li>K->N at 125: in WRN, MIM: 277700<li>K->E at 135: in WRN, MIM: 277700<li>T->P at 172, MIM: 277700<li>N->K at 240, MIM: 277700<li>T->A at 324: in dbSNP:rs1800390, MIM: 277700<li>Q->R at 329: in dbSNP:rs4987237, MIM: 277700<li>E->K at 343: in dbSNP:rs11574222, MIM: 277700<li>L->F at 383: in dbSNP:rs4987238, MIM: 277700<li>L->W at 383, MIM: 277700<li>M->I at 387: in dbSNP:rs1800391, MIM: 277700<li>N->S at 533: in dbSNP:rs11574240, MIM: 277700<li>S->C at 612: in dbSNP:rs11574250, MIM: 277700<li>S->F at 708: in dbSNP:rs11574289, MIM: 277700<li>Q->L at 724, MIM: 277700<li>R->C at 834: in dbSNP:rs3087425, MIM: 277700<li>I->S at 912: in dbSNP:rs11574323, MIM: 277700<li>F->L at 1074: in dbSNP:rs1801195, MIM: 277700<li>S->L at 1079: in dbSNP:rs3087414, MIM: 277700<li>S->A at 1133: in dbSNP:rs11574358, MIM: 277700<li>S->L at 1141, MIM: 277700<li>K->E at 1269, MIM: 277700<li>V->I at 1339: in dbSNP:rs11574395, MIM: 277700<li>C->R at 1367: polymorphism associated with a higher risk of myocardial infarction; dbSNP:rs1346044, MIM: 277700</ul>							Q14191	Werner syndrome (WRN) [MIM:277700]	<li>rs3087414</li><li>rs11574240</li><li>rs11574358</li><li>rs11574323</li><li>rs3087425</li><li>rs34477820</li><li>rs4987237</li><li>rs1346044</li><li>rs1800391</li><li>rs11574289</li><li>rs2230009</li><li>rs1800390</li><li>rs4987238</li><li>rs11574250</li><li>rs1801195</li><li>rs11574395</li><li>rs11574222</li>	2
Q14194	1400	<ul><li>V->I at 461: in dbSNP:rs34611001</ul>									rs34611001	2
Q14195	1809	<ul><li>A->S at 442: in dbSNP:rs2304044</ul>									rs2304044	2
Q14197	3396	<ul><li>R->P at 8: in dbSNP:rs3744206<li>L->F at 77: in dbSNP:rs10512599</ul>									<li>rs3744206</li><li>rs10512599</li>	2
Q14203	1639	<ul><li>G->S at 59: in PLMND, MIM: 607641<li>A->P at 163, MIM: 607641<li>L->M at 287: in dbSNP:rs13420401, MIM: 607641<li>R->Q at 495: in dbSNP:rs17721059, MIM: 607641</ul>								Progressive lower motor neuron disease (PLMND) [MIM:607641]	<li>rs17721059</li><li>rs13420401</li>	2
Q14204	1778	<ul><li>D->N at 3902: in dbSNP:rs17512818<li>H->Q at 4029: in dbSNP:rs10129889</ul>									<li>rs10129889</li><li>rs17512818</li>	2
Q14207	4863	<ul><li>I->L at 295: in dbSNP:rs1131748<li>L->M at 399: in dbSNP:rs1051521<li>V->M at 447: in dbSNP:rs35504388<li>I->L at 483: in dbSNP:rs968207<li>L->F at 540: in dbSNP:rs4144901<li>V->I at 575: in dbSNP:rs2070661<li>V->A at 608: in dbSNP:rs35095430<li>V->I at 621: in dbSNP:rs1051522<li>E->Q at 967: in dbSNP:rs1131750<li>L->V at 973: in dbSNP:rs1131751<li>V->A at 987: in dbSNP:rs1051524<li>N->K at 999: in dbSNP:rs34052882<li>Q->R at 1191: in dbSNP:rs1051525</ul>									<li>rs35504388</li><li>rs35095430</li><li>rs4144901</li><li>rs1131748</li><li>rs2070661</li><li>rs1131750</li><li>rs1051525</li><li>rs968207</li><li>rs1051524</li><li>rs34052882</li><li>rs1051521</li><li>rs1131751</li><li>rs1051522</li>	2
Q14209	1870	<ul><li>G->R at 205: in dbSNP:rs2229297<li>Q->H at 226: in dbSNP:rs2075995</ul>									<li>rs2075995</li><li>rs2229297</li>	2
Q14210	8581	<ul><li>A->T at 10: in dbSNP:rs2572925</ul>									rs2572925	2
Q14213	10148	<ul><li>A->V at 174: in dbSNP:rs1803524<li>V->I at 201: in dbSNP:rs4740</ul>									<li>rs1803524</li><li>rs4740</li>	2
Q14232	1967	<ul><li>N->Y at 208: in VWM, MIM: 603896</ul>								Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]		2
Q14240	1974	<ul><li>Q->H at 93: in dbSNP:rs11538616<li>V->L at 181: in a breast cancer sample; somatic mutation</ul>									rs11538616	2
Q14241		<ul><li>T->M at 119: in dbSNP:rs2235541<li>V->I at 298: in dbSNP:rs520713<li>A->V at 490: in dbSNP:rs550252</ul>									<li>rs2235541</li><li>rs520713</li><li>rs550252</li>	2
Q14242	6404	<ul><li>M->I at 62: in dbSNP:rs2228315<li>Missing  at 132-141: in short form; not an alternative splicing<li>P->S at 246: in dbSNP:rs8179142</ul>									<li>rs8179142</li><li>rs2228315</li>	2
Q14244	9053	<ul><li>V->I at 361: in dbSNP:rs35350783<li>R->P at 526: in dbSNP:rs35107962<li>R->W at 558: in dbSNP:rs2076190</ul>									<li>rs2076190</li><li>rs35107962</li><li>rs35350783</li>	2
Q14246	2015	<ul><li>R->L at 2: in dbSNP:rs34176643<li>A->T at 57: in dbSNP:rs330877<li>S->R at 140: in dbSNP:rs330880<li>D->N at 174: in dbSNP:rs897738<li>N->S at 254: in dbSNP:rs443658<li>A->V at 298: in dbSNP:rs370094<li>T->M at 389: in dbSNP:rs466876<li>V->I at 424: in dbSNP:rs457857<li>Q->K at 496: in dbSNP:rs373533<li>V->I at 539: in dbSNP:rs461645<li>V->I at 589: in dbSNP:rs7256147<li>T->M at 663: in dbSNP:rs2228539<li>F->C at 691: in dbSNP:rs2229769<li>V->L at 724: in dbSNP:rs10406580</ul>									<li>rs330877</li><li>rs443658</li><li>rs461645</li><li>rs466876</li><li>rs330880</li><li>rs897738</li><li>rs2228539</li><li>rs34176643</li><li>rs370094</li><li>rs373533</li><li>rs457857</li><li>rs7256147</li><li>rs10406580</li><li>rs2229769</li>	2
Q14249	2021	<ul><li>L->S at 12: in dbSNP:rs2293969</ul>									rs2293969	2
Q14254		<ul><li>A->T at 279: in dbSNP:rs3736238</ul>									rs3736238	2
Q14258	7706	<ul><li>V->G at 89: in dbSNP:rs7212260<li>L->P at 358: in dbSNP:rs205498</ul>									<li>rs205498</li><li>rs7212260</li>	2
Q14264	2086	<ul><li>T->I at 90: in dbSNP:rs6460219<li>C->Y at 192: in dbSNP rsrs34639489<li>Y->C at 236<li>N->S at 481: in dbSNP:rs4618579<li>L->P at 522<li>N->S at 569: in dbSNP:rs4717229</ul>									<li>rs4717229</li><li>rs6460219</li><li>rs4618579</li><li>rs34639489</li>	2
Q14289	2185	<ul><li>Q->E at 359: in dbSNP rsrs56175011<li>R->H at 698: in dbSNP rsrs35174236<li>L->P at 808: in dbSNP rsrs55747955<li>K->T at 838: in dbSNP:rs751019<li>E->K at 970: in dbSNP rsrs56263944</ul>									<li>rs56175011</li><li>rs55747955</li><li>rs56263944</li><li>rs751019</li><li>rs35174236</li>	2
Q14296	10922	<ul><li>V->L at 424: in a lung adenocarcinoma sample; somatic mutation<li>A->V at 436: in dbSNP:rs2288648</ul>									rs2288648	2
Q14314	10875	<ul><li>G->E at 53: in dbSNP:rs2075761</ul>									rs2075761	2
Q14315	2318	<ul><li>R->Q at 1567: in dbSNP:rs2291569<li>G->D at 1580: in dbSNP:rs2643766<li>A->T at 1599: in dbSNP:rs2643767<li>K->R at 2135: in dbSNP:rs1063261<li>P->R at 2203: in dbSNP:rs1063262<li>S->N at 2626: in dbSNP:rs2639142<li>K->Q at 2637: in dbSNP:rs2291572</ul>									<li>rs1063262</li><li>rs2643767</li><li>rs1063261</li><li>rs2291569</li><li>rs2639142</li><li>rs2643766</li><li>rs2291572</li>	2
Q14318	23770	<ul><li>A->V at 87: in dbSNP:rs11574806</ul>									rs11574806	2
Q14324		<ul><li>G->S at 52: in dbSNP:rs25669<li>V->I at 625: in dbSNP:rs25665<li>R->H at 1090: in dbSNP:rs25667</ul>									<li>rs25669</li><li>rs25665</li><li>rs25667</li>	2
Q14331	2483	<ul><li>T->A at 19: in dbSNP:rs17797703<li>K->E at 66: in dbSNP:rs17406826</ul>									<li>rs17406826</li><li>rs17797703</li>	2
Q14344	10672	<ul><li>V->L at 221: in dbSNP:rs1062597</ul>									rs1062597	2
Q14353	2593	<ul><li>T->M at 209: in dbSNP:rs17851582</ul>									rs17851582	2
Q14376	2582	<ul><li>A->V at 25: in EDG, MIM: 230350<li>N->S at 34: in EDG; peripheral; nearly normal activity towards UDP-galactose, MIM: 230350<li>R->C at 40: in EDG, MIM: 230350<li>D->E at 69: in EDG, MIM: 230350<li>G->E at 90: in EDG; 800-fold decrease in UDP-galactose epimerization activity: in dbSNP rsrs28940882, MIM: 230350<li>V->M at 94: in EDG; generalized; 30-fold decrease in UDP-galactose epimerization activity; 2-fold decrease in affinity for UDP-galactose; 24% of normal activity with respect to UDP-N-acetylgalactosamine, MIM: 230350<li>D->G at 103: in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine: in dbSNP rsrs28940883, MIM: 230350<li>E->K at 165: in EDG, MIM: 230350<li>R->W at 169: in EDG, MIM: 230350<li>A->V at 180: in dbSNP rsrs3204468, MIM: 230350<li>L->P at 183: in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity, MIM: 230350<li>R->W at 239: in EDG, MIM: 230350<li>K->R at 257: in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose: in dbSNP rsrs28940884, MIM: 230350<li>G->D at 302: in EDG, MIM: 230350<li>L->M at 313: in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine: in dbSNP rsrs3180383, MIM: 230350<li>G->E at 319: in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation; may be a polymorphism: in dbSNP rsrs28940885, MIM: 230350<li>R->H at 335: in EDG; 2-fold decrease in UDP-galactose epimerization activity, MIM: 230350</ul>								Epimerase-deficiency galactosemia (EDG) [MIM:230350]	<li>rs28940884</li><li>rs28940885</li><li>rs28940882</li><li>rs28940883</li><li>rs3204468</li><li>rs3180383</li>	2
Q14390	91227	<ul><li>E->G at 70: in dbSNP:rs2904923</ul>									rs2904923	2
Q14392	2615	<ul><li>L->V at 223: in dbSNP:rs35033061<li>G->A at 311: in dbSNP:rs35130967</ul>									<li>rs35033061</li><li>rs35130967</li>	2
Q14393	2621	<ul><li>F->L at 41<li>S->Y at 231<li>V->M at 390<li>G->R at 543<li>S->L at 623<li>E->K at 655<li>R->Q at 659</ul>										2
Q14397	2646	<ul><li>E->G at 77: in dbSNP:rs8179206<li>G->S at 256: in dbSNP:rs8179212<li>P->L at 446: in dbSNP:rs1260326<li>R->Q at 540: in dbSNP:rs8179249</ul>									<li>rs1260326</li><li>rs8179206</li><li>rs8179249</li><li>rs8179212</li>	2
Q14444	4076	<ul><li>A->D at 263: in dbSNP:rs1132973<li>Q->H at 588: in dbSNP:rs12282627<li>R->H at 616: in dbSNP:rs11552285</ul>									<li>rs1132973</li><li>rs12282627</li><li>rs11552285</li>	2
Q14457	8678	<ul><li>A->V at 103<li>I->T at 403</ul>										2
Q14494	4779	<ul><li>D->H at 63: in dbSNP:rs2229367</ul>									rs2229367	2
Q14498	9584	<ul><li>A->V at 2: in dbSNP:rs1803701</ul>									rs1803701	2
Q14500	3768	<ul><li>R->Q at 6: in dbSNP:rs3752032<li>S->L at 15: in dbSNP:rs1657738<li>P->L at 156: in dbSNP:rs1714864<li>I->V at 249: in dbSNP:rs4985866</ul>									<li>rs4985866</li><li>rs1657738</li><li>rs1714864</li><li>rs3752032</li>	2
Q14507	10876	<ul><li>G->C at 62: in dbSNP:rs34552133</ul>									rs34552133	2
Q14511	4739	<ul><li>D->N at 178: in dbSNP:rs11546959<li>P->L at 304: in dbSNP:rs34184473<li>T->M at 577: in dbSNP:rs3734401</ul>									<li>rs34184473</li><li>rs3734401</li><li>rs11546959</li>	2
Q14515	8404	<ul><li>D->A at 49: in dbSNP:rs13051</ul>									rs13051	2
Q14520	3026	<ul><li>V->I at 90: in dbSNP:rs11575750<li>E->Q at 393: in Marburg II polymorphism; dbSNP:rs11575688<li>G->E at 534: in Marburg I polymorphism; impairs the pro-urokinase activating potency; could be a prominent risk predictor of carotid stenosis; dbSNP:rs7080536</ul>									<li>rs7080536</li><li>rs11575688</li><li>rs11575750</li>	2
Q14524	6331	<ul><li>G->V at 9: in LQT3, MIM: 603830<li>R->H at 27: in BRS1, MIM: 601144<li>R->C at 34: in dbSNP:rs6791924, MIM: 601144<li>R->Q at 43: in LQT3; does not affect baseline kinetics of sodium currents; causes an unusual hyperpolarizing shift of the activation kinetics after lidocaine treatment, MIM: 601144<li>V->I at 95: in BRS1, MIM: 601144<li>K->E at 126: in BRS1, MIM: 601144<li>M->I at 138: found in patients with atrial fibrillation, MIM: 601144<li>E->K at 161: in BRS1 and PFHB1A, MIM: 601144<li>T->I at 187: in BRS1; loss of function, MIM: 601144<li>L->P at 212: in PFHB1A, MIM: 601144<li>S->L at 216: in LQT3; also found in patients with atrial fibrillation: in dbSNP rsrs41276525, MIM: 601144<li>T->I at 220: in SSS1; dbSNP:rs45620037, MIM: 608567<li>R->Q at 225: in LQT3, MIM: 603830<li>R->W at 225: in PFHB1A, MIM: 603830<li>A->V at 226: in BRS1, MIM: 601144<li>I->V at 230: in BRS1, MIM: 601144<li>V->I at 232: associated with F-1308 in a case of lidocaine-induced Brugada syndrome: in dbSNP rsrs45471994, MIM: 601144<li>R->H at 282: in BRS1, MIM: 601144<li>V->M at 294: in BRS1, MIM: 601144<li>G->S at 298: in PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance, MIM: 601144<li>G->S at 319: in BRS1, MIM: 601144<li>L->R at 325: in BRS1, MIM: 601144<li>P->L at 336: in BRS1; disease phenotype in the presence of V-1660 on the other allele, MIM: 601144<li>G->V at 351: in BRS1; 7-fold current reduction, MIM: 601144<li>T->I at 353: in BRS1, MIM: 601144<li>D->N at 356: in BRS1; loss of function, MIM: 601144<li>R->C at 367: in BRS1; express no current; dbSNP:rs28937318, MIM: 601144<li>R->H at 367: in BRS1; express no current: in dbSNP rsrs28937318, MIM: 601144<li>M->K at 369: in BRS1, MIM: 601144<li>R->H at 376: found in patients with atrial fibrillation, MIM: 601144<li>Missing  at 393: in BRS1, MIM: 601144<li>N->K at 406: in LQT3, MIM: 601144<li>N->S at 406: in BRS1, MIM: 601144<li>E->K at 428: found in patients with atrial fibrillation, MIM: 601144<li>H->D at 445: found in patients with atrial fibrillation, MIM: 601144<li>L->V at 461: found in patients with atrial fibrillation; dbSNP:rs41313697, MIM: 601144<li>N->K at 470: found in patients with atrial fibrillation, MIM: 601144<li>R->W at 481: found in patients with atrial fibrillation, MIM: 601144<li>T->I at 512: in PFHB1A; voltage-dependent activation and inactivation of the Ile-512 channel is shifted negatively by 8 to 9 mV and had enhanced slow activation and slower recovery from inactivation commpared to the wild-type channel; the double mutant Arg-558/Ile-512 channel shows that Arg-558 eliminates the negative shift induced by Ile-512 but only partially restores the kinetic abnormalities, MIM: 601144<li>G->C at 514: in BRS1 and PFHB1A, MIM: 601144<li>S->Y at 524: found in patients with atrial fibrillation; dbSNP:rs41313691, MIM: 601144<li>F->C at 532: in SIDS, MIM: 601144<li>G->R at 552: in dbSNP:rs3918389, MIM: 601144<li>H->R at 558: activation and inactivation of wild-type and Arg-558 channels are similar; the double mutant Arg-558/Ile-512 channel shows that Arg-558 eliminates the negative shift induced by Ile-512 but only partially restores the kinetic abnormalities; dbSNP:rs1805124, MIM: 601144<li>L->Q at 567: in BRS1, MIM: 601144<li>A->D at 572: in LQT3; also found in patients with atrial fibrillation: in dbSNP rsrs36210423, MIM: 601144<li>Missing  at 586-587: in LQT3, MIM: 601144<li>G->E at 615: in LQT3; drug-induced LQT syndrome; dbSNP:rs12720452, MIM: 603830<li>L->F at 618: in drug-induced LQT syndrome; also found in patients with atrial fibrillation; dbSNP:rs45488304, MIM: 603830<li>L->F at 619: in LQT3, MIM: 603830<li>G->R at 639: in LQT3, MIM: 603830<li>E->K at 655: found in patients with atrial fibrillation, MIM: 603830<li>R->H at 680: in LQT3, MIM: 603830<li>H->P at 681: in BRS1, MIM: 601144<li>A->E at 735: in BRS1, MIM: 601144<li>A->V at 735: in BRS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential, MIM: 601144<li>G->R at 752: in BRS1 and PFHB1A, MIM: 601144<li>R->Q at 814: in BRS1, MIM: 601144<li>F->L at 851: in BRS1, MIM: 601144<li>R->C at 878: in BRS1, MIM: 601144<li>F->I at 892: in BRS1, MIM: 601144<li>C->S at 896: in BRS1, MIM: 601144<li>S->L at 910: in BRS1, MIM: 601144<li>S->N at 941: in LQT3; also in SIDS, MIM: 603830<li>R->C at 965: in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation, MIM: 601144<li>A->S at 997: in LQT3; also found in patients with atrial fibrillation; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current, MIM: 603830<li>R->H at 1023: in BRS1, MIM: 603830<li>R->Q at 1027, MIM: 603830<li>D->N at 1041: in dbSNP:rs45491996, MIM: 603830<li>E->K at 1053: in BRS1; also found in patients with atrial fibrillation; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes, MIM: 601144<li>G->S at 1084: in SIDS; may be a rare polymorphism, MIM: 601144<li>P->L at 1090: in dbSNP:rs1805125, MIM: 601144<li>S->Y at 1103: may confere susceptibility to acquired arrhythmia; dbSNP:rs7626962, MIM: 601144<li>D->N at 1114: in LQT3, MIM: 603830<li>T->I at 1131: found in patients with atrial fibrillation, MIM: 603830<li>A->V at 1180: in dbSNP:rs41310765, MIM: 603830<li>R->Q at 1193: in BRS1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344, MIM: 601144<li>E->K at 1225: in BRS1, MIM: 601144<li>R->W at 1232: in BRS1 and PFHB1A, MIM: 601144<li>K->N at 1236: in BRS1, MIM: 601144<li>E->Q at 1240: in BRS1, MIM: 601144<li>F->L at 1250: in LQT3; drug-induced LQT syndrome; dbSNP:rs45589741, MIM: 603830<li>G->S at 1262: in BRS1, MIM: 601144<li>D->N at 1275: in CMD1E, BRS1 and PFHB1A; also in familial atrial standstill in association with polymorphisms in the regulatory region of GJA5, MIM: 601154<li>F->S at 1293: in BRS1; dbSNP:rs41311127, MIM: 601144<li>E->K at 1295: in LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation, MIM: 601144<li>P->L at 1298: in SSS1: in dbSNP rsrs28937319, MIM: 608567<li>T->M at 1304: in LQT3, MIM: 603830<li>L->F at 1308: associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031, MIM: 603830<li>G->V at 1319: in BRS1, MIM: 601144<li>N->S at 1325: in LQT3: in dbSNP rsrs28937317, MIM: 603830<li>A->P at 1330: in LQT3, MIM: 603830<li>A->T at 1330: in LQT3, MIM: 603830<li>P->L at 1332: in LQT3, MIM: 603830<li>S->Y at 1333: in LQT3 and SIDS, MIM: 603830<li>F->S at 1344: in BRS1, MIM: 601144<li>S->I at 1382: in BRS1, MIM: 601144<li>V->L at 1405: in BRS1, MIM: 601144<li>G->R at 1406: in BRS1: in dbSNP rsrs28936971, MIM: 601144<li>G->R at 1408: in SSS1 and BRS1; also in cardiac conduction defect: in dbSNP rsrs28936971, MIM: 608567<li>R->G at 1432: in BRS1, MIM: 608567<li>P->L at 1438: in BRS1, MIM: 608567<li>F->C at 1473: in LQT3, MIM: 608567<li>Missing  at 1479: in BRS1, MIM: 608567<li>F->L at 1486: in LQT3, MIM: 608567<li>Y->N at 1494: in BRS1, MIM: 608567<li>K->N at 1500, MIM: 608567<li>Missing  at 1500: in BRS1, MIM: 608567<li>L->V at 1501: in LQT3, MIM: 603830<li>G->S at 1502: in BRS1, MIM: 601144<li>Missing  at 1505-1507: in LQT3, MIM: 601144<li>Missing  at 1507-1509: in LQT3, MIM: 601144<li>R->W at 1512: in BRS1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke, MIM: 601144<li>K->R at 1527: in BRS1; asymptomatic patient; associated with P-1569, MIM: 601144<li>A->P at 1569: in BRS1; asymptomatic patient; associated with R-1527, MIM: 601144<li>D->N at 1595: in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3, MIM: 601144<li>S->W at 1609: in LQT3, MIM: 603830<li>Missing  at 1617: in LQT3 and BRS1, MIM: 603830<li>T->K at 1620: in LQT3 and PFHB1A, MIM: 603830<li>T->M at 1620: in BRS1; arrhythmogenicity revealed only at temperatures approaching the physiologic range, MIM: 601144<li>R->L at 1623: in LQT3, MIM: 603830<li>R->Q at 1623: in LQT3, MIM: 603830<li>R->P at 1626: in LQT3, MIM: 603830<li>R->C at 1644: in LQT3 and BRS1, MIM: 603830<li>R->H at 1644: in LQT3; dbSNP:rs28937316, MIM: 603830<li>T->M at 1645: in LQT3, MIM: 603830<li>A->V at 1649: in BRS1, MIM: 603830<li>M->R at 1652: in LQT3, MIM: 603830<li>I->V at 1660: in BRS1; disease phenotype in the presence of L-336 on the other allele, MIM: 603830<li>F->S at 1705: in SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation, MIM: 603830<li>S->L at 1710: in IVF and BRS1, MIM: 603829<li>D->G at 1714: in BRS1; strong decrease of current density; does not affect ion selectivity properties, MIM: 601144<li>G->R at 1740: in BRS1, MIM: 601144<li>G->E at 1743: in BRS1, MIM: 601144<li>G->R at 1743: in BRS1; yields nearly undetectable currents in transfected cells, MIM: 601144<li>V->M at 1763: in LQT3, MIM: 601144<li>M->L at 1766: in LQT3, MIM: 601144<li>I->V at 1768: in LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve, MIM: 601144<li>V->M at 1777: in LQT3, MIM: 601144<li>E->K at 1784: in LQT3 and BRS1, MIM: 603830<li>S->N at 1787: in LQT3, MIM: 603830<li>D->G at 1790: in LQT3, MIM: 603830<li>Y->C at 1795: in LQT3; also in a family associating LQT syndrome and atrial fibrillation; slows the onset of activation, but does not cause a marked negative shift in the voltage dependence of inactivation or affect the kinetics of the recovery from inactivation; increases the expression of sustained Na, MIM: 603830<li>Y->H at 1795: in BRS1; accelerates the onset of activation and causes a marked negative shift in the voltage dependence of inactivation; does not affect the kinetics of the recovery from inactivation; increases the expression of sustained Na, MIM: 601144<li>Y->YD at 1795: in LQT3 and BRS1; 7.3-mV negative shift of the steady-state inactivation curve and 8.1-mV positive shift of the steady-state activation curve; may reduced sodium current during the upstroke of the action potential, MIM: 601144<li>D->N at 1819: in LQT3; digenic; associated with Gly-100 mutation on the KCNH2 gene, MIM: 603830<li>L->P at 1825: in LQT3; drug-induced LQT syndrome, MIM: 603830<li>R->C at 1826: found in patients with atrial fibrillation, MIM: 603830<li>R->H at 1826: in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current, MIM: 603830<li>D->G at 1839: in LQT3, MIM: 603830<li>C->S at 1850: in BRS1; decreased I, MIM: 603830<li>M->T at 1875: in atrial fibrillation; pronounced depolarized shift of the voltage dependence of steady-state inactivation; no persistent sodium current, MIM: 603830<li>S->L at 1904: in LQT3; promotes late sodium currents by increasing the propensity of the channel to reopen during prolonged depolarization, MIM: 603830<li>A->T at 1924: in BRS1; significantly affect cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke, MIM: 601144<li>G->S at 1935: in BRS1, MIM: 601144<li>V->L at 1951: in BRS1 and LQT3; also found in patients with atrial fibrillation; dbSNP:rs41315493, MIM: 601144<li>V->M at 1951: found in patients with atrial fibrillation, MIM: 601144<li>I->S at 1968: in BRS1, MIM: 601144<li>F->L at 2004: in LQT3 and BRS1; also found in patients with atrial fibrillation; results in channels with decreased peak and persistent current amplitudes; increased closed-state and slow inactivation; decelerated recovery from inactivation; dbSNP:rs41311117, MIM: 601144<li>P->A at 2006: in LQT3: in dbSNP rsrs45489199, MIM: 601144</ul>			binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>P36382</li><li>P18860</li><li>Q6G7E9</li><li>Q14524</li><li>Q9PT84</li><li>P60086</li><li>P60087</li><li>P60088</li><li>Q6GER3</li><li>P33725</li><li>Q12955</li><li>Q9TSZ3</li><li>Q9M099</li><li>P87384</li><li>O90760</li><li>O08703</li><li>P35179</li><li>Q8NVE3</li><li>Q12809</li><li>Q4JIM5</li><li>Q8WNY2</li><li>Q9TUI4</li>	<li>Cardiomyopathy dilated type 1E (CMD1E) [MIM:601154]</li><li>Long QT syndrome type 3 (LQT3) [MIM:603830]</li><li>Idiopathic ventricular fibrillation (IVF) [MIM:603829]</li><li>Sick sinus syndrome type 1 (SSS1) [MIM:608567]</li><li>Brugada syndrome (BRS1) [MIM:601144]</li>	<li>rs45489199</li><li>rs41313697</li><li>rs1805125</li><li>rs1805124</li><li>rs36210423</li><li>rs41315493</li><li>rs41313691</li><li>rs41261344</li><li>rs7626962</li><li>rs28936971</li><li>rs41311127</li><li>rs41310765</li><li>rs45491996</li><li>rs45471994</li><li>rs45488304</li><li>rs45620037</li><li>rs45589741</li><li>rs28937318</li><li>rs3918389</li><li>rs28937319</li><li>rs41313031</li><li>rs28937316</li><li>rs28937317</li><li>rs12720452</li><li>rs41276525</li><li>rs41311117</li><li>rs6791924</li>	2
Q14527	6596	<ul><li>N->S at 311: in dbSNP:rs2305868<li>E->Q at 362: in dbSNP:rs2228257<li>R->H at 819: in dbSNP:rs2229361</ul>									<li>rs2305868</li><li>rs2229361</li><li>rs2228257</li>	2
Q14533	3887	<ul><li>G->R at 52: in dbSNP:rs2071588<li>R->L at 248: in dbSNP:rs6580873<li>R->C at 316: in dbSNP:rs4761786<li>E->K at 402: in Monilethrix, MIM: 158000<li>E->K at 413: in Monilethrix: in dbSNP rsrs57419521, MIM: 158000</ul>								Monilethrix [MIM:158000]	<li>rs4761786</li><li>rs6580873</li><li>rs2071588</li><li>rs57419521</li>	2
Q14541		<ul><li>M->I at 190: in dbSNP:rs1805098</ul>									rs1805098	2
Q14542	3177	<ul><li>D->Y at 5: in dbSNP rsrs8187643<li>N->K at 68: in dbSNP rsrs8187644<li>P->L at 94: in dbSNP rsrs8187648<li>SGV->M at 184-186: in dbSNP rsrs8187654,rs8187653</ul>									<li>rs8187653</li><li>rs8187654</li><li>rs8187643</li><li>rs8187644</li><li>rs8187648</li>	2
Q14549	2636	<ul><li>A->T at 194: in dbSNP:rs11975799</ul>									rs11975799	2
Q14554	10954	<ul><li>T->M at 391: in dbSNP:rs2292661</ul>									rs2292661	2
Q14562	1659	<ul><li>A->G at 1069: in dbSNP:rs34285079</ul>									rs34285079	2
Q14563	10371	<ul><li>A->T at 131: in a breast cancer sample; somatic mutation</ul>										2
Q14565	11144	<ul><li>M->V at 200: in dbSNP:rs2227914</ul>									rs2227914	2
Q14566	4175	<ul><li>E->V at 35: in dbSNP:rs3087355<li>E->K at 806: in dbSNP:rs4988283</ul>									<li>rs4988283</li><li>rs3087355</li>	2
Q14568		<ul><li>T->A at 235: in dbSNP:rs1826330<li>C->Y at 312: in dbSNP:rs2726836</ul>									<li>rs1826330</li><li>rs2726836</li>	2
Q14573	3710	<ul><li>L->W at 374: in dbSNP:rs2229646<li>R->Q at 667: in dbSNP:rs11963294<li>D->E at 742: in dbSNP:rs2229633<li>G->V at 1029: in dbSNP:rs2296333<li>L->V at 1552: in dbSNP:rs9461899<li>R->Q at 1850: in dbSNP:rs12528378<li>E->Q at 2398: in dbSNP:rs2229641<li>L->V at 2436: in dbSNP:rs2229642</ul>									<li>rs2296333</li><li>rs12528378</li><li>rs2229646</li><li>rs2229642</li><li>rs2229633</li><li>rs2229641</li><li>rs9461899</li><li>rs11963294</li>	2
Q14574	1825	<ul><li>A->D at 28: in dbSNP:rs2852003<li>S->T at 78: in dbSNP:rs276937<li>R->K at 102: in dbSNP:rs276938<li>K->Q at 180: in dbSNP:rs35296997<li>R->W at 199: in dbSNP:rs276921<li>N->S at 239: in dbSNP:rs35630063</ul>									<li>rs35630063</li><li>rs35296997</li><li>rs276921</li><li>rs276938</li><li>rs2852003</li><li>rs276937</li>	2
Q14584	10781	<ul><li>P->L at 519: in dbSNP:rs10515</ul>									rs10515	2
Q14587	10795	<ul><li>T->M at 175: in dbSNP:rs7975069</ul>									rs7975069	2
Q14588	10780	<ul><li>V->I at 16: in dbSNP:rs2293587<li>V->M at 208: in dbSNP:rs11668974</ul>									<li>rs2293587</li><li>rs11668974</li>	2
Q14590	9310	<ul><li>H->P at 296: in dbSNP:rs2125579</ul>									rs2125579	2
Q14596	4077	<ul><li>R->H at 923: in dbSNP:rs8482</ul>									rs8482	2
Q14623	3549	<ul><li>P->L at 46: in ACFD, MIM: 607778<li>E->K at 95: in BDA1, MIM: 112500<li>D->E at 100: in BDA1, MIM: 112500<li>D->N at 100: in BDA1: in dbSNP rsrs28936377, MIM: 112500<li>E->K at 131: in BDA1, MIM: 112500<li>V->A at 190: in ACFD, MIM: 607778</ul>								<li>Acrocapitofemoral dysplasia (ACFD) [MIM:607778]</li><li>Brachydactyly type A1 (BDA1) [MIM:112500]</li>	rs28936377	2
Q14624	3700	<ul><li>I->N at 85: in dbSNP:rs13072536<li>I->N at 86<li>Q->L at 669: in dbSNP:rs2276814<li>P->T at 698: in dbSNP:rs4687657<li>M->I at 714: in dbSNP:rs2256734<li>L->P at 791: in dbSNP:rs2535621</ul>									<li>rs2535621</li><li>rs2256734</li><li>rs13072536</li><li>rs4687657</li><li>rs2276814</li>	2
Q14626	3590	<ul><li>P->T at 65: in dbSNP:rs11575589<li>R->W at 395: in dbSNP:rs11575580</ul>									<li>rs11575580</li><li>rs11575589</li>	2
Q14627	3598	<ul><li>W->R at 111: in dbSNP:rs17095919</ul>									rs17095919	2
Q14642	3632	<ul><li>K->R at 45: in dbSNP:rs1133400</ul>									rs1133400	2
Q14643	3708	<ul><li>M->V at 769: in dbSNP:rs35789999<li>I->V at 1430: in dbSNP:rs3749383</ul>									<li>rs3749383</li><li>rs35789999</li>	2
Q14651	5357	<ul><li>I->M at 146: in dbSNP:rs35710125<li>S->L at 216: in dbSNP:rs35435507</ul>									<li>rs35435507</li><li>rs35710125</li>	2
Q14653	3661	<ul><li>R->Q at 96: in dbSNP:rs968457<li>Y->F at 107: in dbSNP:rs34745118<li>E->K at 377: in dbSNP:rs1049486<li>S->T at 427: in dbSNP:rs7251</ul>									<li>rs7251</li><li>rs1049486</li><li>rs968457</li><li>rs34745118</li>	2
Q14654		<ul><li>E->K at 10: rare polymorphism<li>E->K at 23: linked to V-337; dbSNP:rs5219<li>R->H at 34: in HHF2, MIM: 601820<li>F->L at 35: in PNDM, MIM: 606176<li>F->V at 35: in PNDM, MIM: 606176<li>G->D at 40: in HHF2, MIM: 601820<li>C->R at 42: in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form, MIM: 610582<li>H->Y at 46: in PNDM; one patient with mild dysmorphic features, MIM: 606176<li>R->P at 50: in PNDM; decreased inhibition by ATP; enhanced activation by Mg, MIM: 606176<li>R->Q at 50: in PNDM; decreased inhibition by ATP; enhanced activation by Mg, MIM: 606176<li>Q->R at 52: in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201, MIM: 606176<li>G->D at 53: in PNDM; with developmental delay and epilepsy, MIM: 606176<li>G->R at 53: in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type, MIM: 610582<li>G->S at 53: in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type, MIM: 610582<li>F->L at 55: in HHF2; does neither affect channel expression nor channel response to MgADP, MIM: 601820<li>V->G at 59: in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel, MIM: 606176<li>V->M at 59: in PNDM; four patients with developmental delay and muscle weakness, MIM: 606176<li>K->N at 67: in HHF2, MIM: 601820<li>W->R at 91: in HHF2, MIM: 601820<li>A->D at 101: in HHF2, MIM: 601820<li>S->P at 116: in HHF2, MIM: 601820<li>G->A at 134: in HHF2, MIM: 601820<li>R->L at 136: in HHF2, MIM: 601820<li>L->P at 147: in HHF2; dbSNP:rs28936678, MIM: 601820<li>I->S at 148, MIM: 601820<li>L->P at 164: in PNDM, MIM: 606176<li>C->Y at 166: in PNDM; individual also diagnosed with West syndrome, MIM: 606176<li>K->N at 170: in PNDM, MIM: 606176<li>K->R at 170: in PNDM, MIM: 606176<li>K->T at 170: in PNDM, MIM: 606176<li>I->V at 182: in TNDM3; reduction in the sensitivity to ATP when compared with wild-type, MIM: 610582<li>R->H at 195: in dbSNP:rs5217, MIM: 610582<li>R->C at 201: in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59, MIM: 606176<li>R->H at 201: in PNDM; ability of ATP to block mutant channels greatly reduced, MIM: 606176<li>R->L at 201: in PNDM, MIM: 606176<li>P->L at 254: in HHF2; impairs trafficking of the mutant channel, MIM: 601820<li>H->R at 259: in HHF2; impairs trafficking and abolishes channel function, MIM: 601820<li>P->L at 266: in HHF2, MIM: 601820<li>L->V at 270: in dbSNP:rs1800467, MIM: 601820<li>I->L at 296: in PNDM; with developmental delay and epilepsy, MIM: 606176<li>R->H at 301: in HHF2, MIM: 601820<li>E->K at 322: in PNDM, MIM: 606176<li>Y->C at 330: in PNDM, MIM: 606176<li>Y->S at 330: in PNDM, MIM: 606176<li>F->I at 333: in PNDM, MIM: 606176<li>I->V at 337: linked to K-23; dbSNP:rs5215, MIM: 606176<li>L->P at 355: in NIDDM; Afro-Caribbean, MIM: 606176<li>P->PKP at 380: in NIDDM, MIM: 606176<li>S->C at 385, MIM: 606176</ul>					cell surface	GO:0009928,GO:0009986	<li>Q8NIG3</li><li>Q75AX1</li><li>P02309</li>	<li>Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582]</li><li>Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]</li><li>Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]</li>	<li>rs1800467</li><li>rs5217</li>	2
Q14656	8269	<ul><li>S->L at 70: in dbSNP:rs2266890<li>M->V at 78: in dbSNP:rs7350355<li>R->Q at 138: in dbSNP:rs36085378</ul>									<li>rs2266890</li><li>rs36085378</li><li>rs7350355</li>	2
Q14667	9703	<ul><li>H->Q at 986: in dbSNP:rs16964472<li>V->G at 1516: in dbSNP:rs12602520<li>R->G at 2060: in dbSNP:rs16964462</ul>									<li>rs16964462</li><li>rs12602520</li><li>rs16964472</li>	2
Q14676	9656	<ul><li>R->C at 179: in dbSNP:rs28986464<li>E->K at 251: in dbSNP:rs2517560<li>R->K at 268: in dbSNP:rs9262152<li>E->K at 371: in dbSNP:rs2075015<li>P->L at 386: in dbSNP:rs28986465<li>I->M at 536: in dbSNP:rs58344693<li>S->A at 586: in dbSNP:rs2844707<li>R->S at 917: in dbSNP:rs28986467<li>P->A at 1100: in dbSNP:rs28994869<li>S->F at 1112: in dbSNP:rs28987085<li>S->P at 1180: in dbSNP:rs9461623<li>E->D at 1509: in dbSNP:rs3132589<li>S->P at 1540: in dbSNP:rs3130645<li>Q->R at 1545: in dbSNP:rs17292678<li>P->R at 1745: in dbSNP:rs28994871<li>V->E at 1791: in dbSNP:rs28994873<li>D->E at 1855: in dbSNP:rs28994874<li>R->Q at 1883: in dbSNP:rs28994875<li>R->Q at 1904: in dbSNP:rs28994876</ul>									<li>rs28987085</li><li>rs2075015</li><li>rs3130645</li><li>rs9262152</li><li>rs58344693</li><li>rs3132589</li><li>rs28994873</li><li>rs9461623</li><li>rs28994871</li><li>rs28986465</li><li>rs28986464</li><li>rs28986467</li><li>rs2844707</li><li>rs28994869</li><li>rs2517560</li><li>rs28994876</li><li>rs17292678</li><li>rs28994875</li><li>rs28994874</li>	2
Q14678	23189	<ul><li>N->K at 206: in dbSNP:rs17857145<li>H->Q at 210: in dbSNP:rs28374506<li>K->R at 321: in dbSNP:rs17857159<li>E->Q at 432: in dbSNP:rs4465020<li>S->A at 464: in dbSNP:rs912174<li>A->V at 664: in dbSNP:rs3824421<li>R->H at 667: in dbSNP:rs3824420<li>N->S at 901: in dbSNP:rs12352313<li>I->T at 1055: in dbSNP:rs34832656</ul>									<li>rs17857145</li><li>rs4465020</li><li>rs17857159</li><li>rs34832656</li><li>rs12352313</li><li>rs28374506</li><li>rs912174</li><li>rs3824421</li><li>rs3824420</li>	2
Q14679	9654	<ul><li>N->S at 17: in dbSNP:rs11542786<li>E->Q at 34: in dbSNP:rs3731877<li>L->P at 364: in dbSNP:rs3731875<li>R->H at 418: in dbSNP:rs2114664<li>G->S at 518: in dbSNP:rs17851914<li>S->G at 524: in dbSNP:rs17851915<li>A->S at 852: in dbSNP:rs17856640</ul>									<li>rs11542786</li><li>rs17851914</li><li>rs2114664</li><li>rs3731875</li><li>rs17856640</li><li>rs17851915</li><li>rs3731877</li>	2
Q14680	9833	<ul><li>T->M at 56: in dbSNP rsrs35233455<li>K->R at 219: in dbSNP:rs35142210<li>R->K at 333: in dbSNP:rs34655121<li>T->I at 348: in dbSNP rsrs55845414<li>T->M at 460: in an ovarian mucinous carcinoma sample; somatic mutation</ul>									<li>rs35233455</li><li>rs55845414</li><li>rs35142210</li><li>rs34655121</li>	2
Q14683	8243	<ul><li>T->P at 28: in dbSNP:rs34530151<li>E->A at 493: in CDLS2, MIM: 300590<li>Missing  at 832: in CDLS2, MIM: 300590</ul>								Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	rs34530151	2
Q14686	23054	<ul><li>P->L at 512: in dbSNP:rs6060031<li>N->S at 955: in dbSNP:rs17092079<li>P->S at 1060: in a breast cancer sample; somatic mutation<li>S->R at 1191: in a breast cancer sample; somatic mutation<li>I->V at 1995: in dbSNP:rs6060022</ul>									<li>rs17092079</li><li>rs6060022</li><li>rs6060031</li>	2
Q14687	23199	<ul><li>R->W at 627: in a colorectal cancer sample; somatic mutation<li>V->A at 936: in dbSNP:rs17853763<li>R->Q at 1153: in dbSNP:rs2303203</ul>									<li>rs2303203</li><li>rs17853763</li>	2
Q14689	23181	<ul><li>P->A at 191: in dbSNP:rs7283507<li>S->N at 372: in dbSNP:rs16979312</ul>									<li>rs7283507</li><li>rs16979312</li>	2
Q14690	22984	<ul><li>S->N at 397: in dbSNP:rs7074814<li>A->S at 623: in dbSNP:rs11598673<li>A->S at 780: in dbSNP:rs11591914<li>L->F at 1216: in dbSNP:rs2986014<li>P->S at 1453: in dbSNP:rs2274289<li>D->A at 1871: in dbSNP:rs7831</ul>									<li>rs2274289</li><li>rs7074814</li><li>rs11598673</li><li>rs2986014</li><li>rs11591914</li><li>rs7831</li>	2
Q14691	9837	<ul><li>V->I at 97: in dbSNP:rs6076347</ul>									rs6076347	2
Q14693	23175	<ul><li>G->E at 56: in a colorectal cancer sample; somatic mutation<li>P->S at 610: in dbSNP:rs4669781<li>S->T at 637: in dbSNP:rs17852755</ul>									<li>rs4669781</li><li>rs17852755</li>	2
Q14694	9100	<ul><li>M->V at 200: in dbSNP:rs1862792<li>S->P at 203: in dbSNP:rs2326391<li>V->L at 204: in dbSNP:rs1812061</ul>									<li>rs1862792</li><li>rs1812061</li><li>rs2326391</li>	2
Q14695	100134802	<ul><li>S->N at 85: in dbSNP:rs740182</ul>									rs740182	2
Q14697	23193	<ul><li>R->W at 154: in dbSNP:rs2276296<li>R->Q at 173: in dbSNP:rs2276295<li>R->C at 309: in dbSNP:rs1063445</ul>									<li>rs1063445</li><li>rs2276295</li><li>rs2276296</li>	2
Q14699	23180	<ul><li>E->K at 248: in dbSNP:rs34276015</ul>									rs34276015	2
Q14703	8720	<ul><li>I->T at 6: in dbSNP:rs34701895<li>R->G at 90: in dbSNP:rs34076105</ul>									<li>rs34701895</li><li>rs34076105</li>	2
Q14714	8082	<ul><li>S->N at 186: in dbSNP:rs12313670<li>V->I at 228: in dbSNP:rs12313736</ul>									<li>rs12313670</li><li>rs12313736</li>	2
Q14721	3745	<ul><li>P->S at 825: in dbSNP:rs34467662</ul>									rs34467662	2
Q14739	3930	<ul><li>P->L at 119: in PHA, MIM: 169400<li>S->N at 154: in dbSNP:rs2230419, MIM: 169400<li>R->C at 169: in dbSNP:rs2230420, MIM: 169400<li>T->A at 311: in dbSNP:rs2275601, MIM: 169400<li>P->R at 569: in PHA, MIM: 169400</ul>							P80463	Pelger-Huet anomaly (PHA) [MIM:169400]	<li>rs2230420</li><li>rs2230419</li><li>rs2275601</li>	2
Q14746	22796	<ul><li>R->H at 288: in dbSNP:rs34796217<li>N->K at 304: in dbSNP:rs6681346<li>V->I at 589: in dbSNP:rs34109129</ul>									<li>rs34796217</li><li>rs6681346</li><li>rs34109129</li>	2
Q14749	27232	<ul><li>L->P at 50: in GNMT deficiency; 10% wild-type activity, MIM: 606664<li>N->S at 141: in GNMT deficiency; 0.5% wild-type activity, MIM: 606664<li>H->N at 177: in GNMT deficiency; 75% wild-type activity, MIM: 606664</ul>							<li>Q29513</li><li>Q29555</li><li>Q14749</li>	GNMT deficiency (also known as hypermethioninemia) [MIM:606664]		2
Q14764	9961	<ul><li>V->I at 635: in dbSNP:rs35916172<li>R->Q at 651: in dbSNP:rs3764944</ul>									<li>rs3764944</li><li>rs35916172</li>	2
Q14765	6775	<ul><li>E->Q at 112: in a breast cancer sample; somatic mutation<li>I->V at 115: in dbSNP:rs3024839<li>R->W at 584: in dbSNP:rs3024933</ul>									<li>rs3024839</li><li>rs3024933</li>	2
Q14773	3386	<ul><li>Q->R at 100: in LW<li>V->L at 208: in dbSNP rsrs36023325</ul>									rs36023325	2
Q14774	3142	<ul><li>S->P at 116: in dbSNP:rs12141189<li>P->L at 356: in dbSNP:rs2738755<li>A->G at 387: in dbSNP:rs11578466</ul>									<li>rs2738755</li><li>rs12141189</li><li>rs11578466</li>	2
Q14789	2804	<ul><li>Q->H at 348: in a breast cancer sample; somatic mutation<li>T->S at 911: in dbSNP:rs3732407<li>A->G at 944: in a breast cancer sample; somatic mutation<li>Y->C at 1212: in dbSNP:rs3732410<li>P->S at 1249: in dbSNP:rs33988592<li>C->F at 1713: in dbSNP:rs35674179<li>G->D at 1765: in dbSNP:rs1127412</ul>									<li>rs1127412</li><li>rs33988592</li><li>rs3732407</li><li>rs3732410</li><li>rs35674179</li>	2
Q14790	841	<ul><li>S->T at 219: in dbSNP:rs35976359<li>R->W at 248: in CASP8D; dbSNP:rs17860424, MIM: 607271<li>D->H at 285: associated with protection against breast cancer; also associated with a lower risk of cutaneous melanoma; dbSNP:rs1045485, MIM: 607271</ul>								Caspase-8 deficiency (CASP8D) [MIM:607271]	<li>rs1045485</li><li>rs17860424</li><li>rs35976359</li>	2
Q147U1	162993	<ul><li>C->Y at 450: in dbSNP:rs10414485<li>Y->C at 492: in dbSNP:rs10420364</ul>									<li>rs10414485</li><li>rs10420364</li>	2
Q147U7	255798	<ul><li>H->Y at 20: in dbSNP:rs9869292<li>R->W at 64: in dbSNP:rs11926701</ul>									<li>rs9869292</li><li>rs11926701</li>	2
Q14802	5349	<ul><li>G->S at 40: in dbSNP:rs35578165</ul>									rs35578165	2
Q14814	4209	<ul><li>P->S at 434: in dbSNP:rs2274315</ul>									rs2274315	2
Q14831	2917	<ul><li>Y->F at 433: in dbSNP:rs2229902<li>I->V at 495: in dbSNP:rs7634846<li>G->E at 745: in dbSNP:rs1485174</ul>									<li>rs1485174</li><li>rs2229902</li><li>rs7634846</li>	2
Q14832	2913	<ul><li>G->D at 475: in dbSNP:rs17161026</ul>									rs17161026	2
Q14833	2914	<ul><li>L->F at 169: in dbSNP:rs452752<li>V->I at 797</ul>									rs452752	2
Q14839		<ul><li>D->E at 139: in dbSNP:rs1639122<li>S->L at 1648: in dbSNP:rs35512811<li>I->V at 1655: in dbSNP:rs16932768</ul>									<li>rs1639122</li><li>rs16932768</li><li>rs35512811</li>	2
Q14849	10948	<ul><li>R->Q at 117: in dbSNP:rs1877031<li>G->A at 216: in dbSNP:rs11556624</ul>									<li>rs1877031</li><li>rs11556624</li>	2
Q14896		<ul><li>G->R at 5: in CMH4, MIM: 115197<li>T->A at 59: in CMH4, MIM: 115197<li>V->M at 158: in dbSNP:rs3729986, MIM: 115197<li>P->S at 161: in CMH4, MIM: 115197<li>V->I at 189: in dbSNP:rs11570052, MIM: 115197<li>V->L at 219: in CMH4, MIM: 115197<li>D->N at 228: in CMH4, MIM: 115197<li>S->G at 236: in dbSNP:rs3729989, MIM: 115197<li>Y->S at 237: in CMH4, MIM: 115197<li>V->I at 256: in CMH4, MIM: 115197<li>H->P at 257: in CMH4, MIM: 115197<li>E->K at 258: in CMH4, MIM: 115197<li>G->R at 263: in CMH4, MIM: 115197<li>R->H at 273: in CMH4, MIM: 115197<li>G->E at 278: in CMH4, MIM: 115197<li>G->A at 279: in CMH4, MIM: 115197<li>R->Q at 281: in dbSNP:rs11570060, MIM: 115197<li>R->W at 282: in CMH4, MIM: 115197<li>R->Q at 326: in dbSNP:rs34580776, MIM: 115197<li>L->P at 352: in CMH4, MIM: 115197<li>R->W at 382: in dbSNP:rs11570076, MIM: 115197<li>L->V at 383: in dbSNP:rs11570077, MIM: 115197<li>G->S at 415, MIM: 115197<li>A->S at 416: in CMH4, MIM: 115197<li>E->Q at 450: in CMH4, MIM: 115197<li>R->H at 457: in CMH4, MIM: 115197<li>G->R at 489: in CMH4, MIM: 115197<li>R->G at 494: in CMH4, MIM: 115197<li>R->Q at 494: in CMH4, MIM: 115197<li>R->Q at 501: in CMH4, MIM: 115197<li>R->W at 501: in CMH4, MIM: 115197<li>Missing  at 503: in CMH4, MIM: 115197<li>G->R at 506: in CMH4, MIM: 115197<li>A->T at 521: in dbSNP:rs11570082, MIM: 115197<li>G->W at 522: in CMH4, MIM: 115197<li>E->Q at 541: in CMH4, MIM: 115197<li>L->M at 544, MIM: 115197<li>C->R at 565: in CMH4, MIM: 115197<li>D->V at 603: in CMH4, MIM: 115197<li>D->N at 604: in CMH4; pathogenicity remains to be determined, MIM: 115197<li>P->L at 607: in CMH4, MIM: 115197<li>R->H at 653: in CMH4; as well folded and stable as the wild-type; dbSNP:rs1800565, MIM: 115197<li>R->H at 667: in CMH4, MIM: 115197<li>R->P at 667: in CMH4, MIM: 115197<li>L->H at 668: in CMH4, MIM: 115197<li>R->C at 732: in CMH4, MIM: 115197<li>N->K at 754: in CMH4; destabilizes the structure of Ig-like C2-type domain 5, MIM: 115197<li>E->D at 758: in CMH4, MIM: 115197<li>D->N at 769: in CMH4, MIM: 115197<li>W->R at 791: in CMH4, MIM: 115197<li>R->H at 809: in CMH4, MIM: 115197<li>K->R at 810: in CMH4, MIM: 115197<li>Missing  at 810: in CMH4, MIM: 115197<li>Missing  at 812: in CMH4, MIM: 115197<li>R->Q at 819: in CMH4; dbSNP:rs2856655, MIM: 115197<li>A->T at 832: in CMH4; pathogenicity is uncertain, MIM: 115197<li>A->V at 832: in CMH4; dbSNP:rs3729952, MIM: 115197<li>R->T at 833: in CMH4, MIM: 115197<li>R->W at 833: in CMH4; pathogenicity is uncertain, MIM: 115197<li>P->H at 872: in CMH4, MIM: 115197<li>V->M at 895: may act as a phenotype modifier in cardiomyopathy patients; dbSNP:rs35078470, MIM: 115197<li>N->T at 947: in CMH4, MIM: 115197<li>Q->E at 997: in CMH4; dbNP:11570112, MIM: 115197<li>Q->R at 997: in CMH4, MIM: 115197<li>R->Q at 1001: in CMH4, MIM: 115197<li>R->W at 1001: in dbSNP:rs3729799, MIM: 115197<li>P->Q at 1002: in CMH4, MIM: 115197<li>T->S at 1027: in CMH4, MIM: 115197<li>R->C at 1047: in dbSNP:rs11570113, MIM: 115197<li>F->I at 1112: in CMH4, MIM: 115197<li>V->I at 1114: in CMH4, MIM: 115197<li>I->T at 1130: in CMH4; pathogenicity is uncertain, MIM: 115197<li>Missing  at 1154: in CMH4, MIM: 115197<li>A->T at 1193: in CMH4, MIM: 115197<li>G->R at 1247: in CMH4, MIM: 115197<li>A->T at 1254: in CMH4, MIM: 115197</ul>								Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	<li>rs11570060</li><li>rs11570113</li><li>rs34580776</li><li>rs3729799</li><li>rs11570082</li><li>rs11570077</li><li>rs11570076</li><li>rs3729989</li><li>rs3729986</li><li>rs11570052</li>	2
Q14914	22949	<ul><li>A->S at 27: in dbSNP:rs1053959</ul>									rs1053959	2
Q14916	6568	<ul><li>S->N at 76: in dbSNP:rs6933573<li>T->I at 269: in dbSNP:rs1165196</ul>									<li>rs1165196</li><li>rs6933573</li>	2
Q14929	169841	<ul><li>P->L at 59: in dbSNP:rs1536690<li>R->C at 368: in dbSNP:rs12236219</ul>									<li>rs12236219</li><li>rs1536690</li>	2
Q14934	4776	<ul><li>G->A at 160: in dbSNP:rs2229309<li>S->N at 246: in dbSNP:rs2228231<li>S->P at 800: in dbSNP:rs7149586</ul>									<li>rs2228231</li><li>rs7149586</li><li>rs2229309</li>	2
Q14943		<ul><li>R->H at 166</ul>										2
Q14954	3806	<ul><li>R->K at 91: in dbSNP rsrs687485</ul>									rs687485	2
Q14956	10457	<ul><li>A->D at 110: in a breast cancer sample; somatic mutation<li>S->C at 195: in dbSNP:rs530436<li>N->H at 197: in dbSNP:rs530413<li>S->F at 294: in dbSNP:rs35499907<li>P->L at 324: in dbSNP:rs35363287<li>S->I at 531: in a breast cancer sample; somatic mutation<li>S->R at 538: in dbSNP:rs35878037</ul>									<li>rs35878037</li><li>rs35499907</li><li>rs530413</li><li>rs530436</li><li>rs35363287</li>	2
Q14957		<ul><li>R->S at 1212: in dbSNP:rs3744215</ul>									rs3744215	2
Q14966	27332	<ul><li>I->V at 110: in dbSNP:rs12612365<li>N->S at 980: in dbSNP:rs3732235<li>S->N at 1462: in dbSNP:rs10427371<li>V->M at 1726: in dbSNP:rs1804020<li>A->V at 1912: in dbSNP:rs11542286</ul>									<li>rs10427371</li><li>rs11542286</li><li>rs3732235</li><li>rs1804020</li><li>rs12612365</li>	2
Q14973	6554	<ul><li>S->F at 267: in dbSNP:rs2296651</ul>									rs2296651	2
Q14978	9221	<ul><li>G->V at 412: in dbSNP:rs11191224<li>S->P at 456: in dbSNP:rs1049455</ul>									<li>rs11191224</li><li>rs1049455</li>	2
Q14980	4926	<ul><li>K->R at 242: in dbSNP:rs34239655<li>A->G at 794: in dbSNP:rs3750913<li>E->D at 1153: in dbSNP:rs34311364<li>V->M at 1825: in dbSNP:rs7949430<li>Y->H at 1836: in dbSNP:rs35586429<li>A->T at 2049: in dbSNP:rs5743685</ul>									<li>rs3750913</li><li>rs35586429</li><li>rs5743685</li><li>rs34311364</li><li>rs34239655</li><li>rs7949430</li>	2
Q14990	4956	<ul><li>S->N at 216: in dbSNP:rs2916569<li>Missing at 219-227<li>F->L at 243: in dbSNP:rs11995900</ul>									<li>rs2916569</li><li>rs11995900</li>	2
Q14993	1310	<ul><li>A->G at 352: in dbSNP:rs2273426<li>G->D at 361: in a breast cancer sample; somatic mutation<li>G->E at 406: in dbSNP:rs13204209<li>E->G at 496: in dbSNP:rs13204209<li>K->N at 1019: in a breast cancer sample; somatic mutation</ul>									<li>rs2273426</li><li>rs13204209</li>	2
Q14994	9970	<ul><li>V->G at 133</ul>										2
Q14995	9975	<ul><li>P->H at 21: in dbSNP:rs17854365<li>Q->K at 282: in dbSNP:rs17857305<li>P->R at 288: in dbSNP:rs17857306<li>L->M at 386: in dbSNP:rs4858097</ul>									<li>rs4858097</li><li>rs17854365</li><li>rs17857306</li><li>rs17857305</li>	2
Q14997	23198	<ul><li>I->V at 872: in dbSNP:rs230287<li>S->T at 1371: in dbSNP:rs805408</ul>									<li>rs230287</li><li>rs805408</li>	2
Q14999	9820	<ul><li>S->G at 616: in dbSNP:rs7774330<li>Q->R at 813: in dbSNP:rs9381231<li>R->Q at 852: in dbSNP:rs34574340<li>L->R at 1014: in 3MS, MIM: 273750<li>Q->G at 1246: in 3MS; requires 2 nucleotide substitutions, MIM: 273750<li>Q->H at 1246: in dbSNP:rs36071170, MIM: 273750<li>H->P at 1464: in 3MS; impairs the ability to interact with RBX1, thus hampers the assembly of polyubiquitin chains, MIM: 273750</ul>							<li>Q08273</li><li>P62877</li><li>Q8QG64</li>	3M syndrome [MIM:273750]	<li>rs36071170</li><li>rs9381231</li><li>rs34574340</li><li>rs7774330</li>	2
Q149M9		<ul><li>G->S at 174: in dbSNP:rs3888834<li>L->F at 211: in dbSNP:rs11668502<li>T->A at 218: in dbSNP:rs706764<li>Q->E at 900: in dbSNP:rs773930<li>I->N at 926: in dbSNP:rs2608737<li>H->R at 935: in dbSNP:rs2608738<li>D->V at 1541: in dbSNP:rs11671361</ul>									<li>rs706764</li><li>rs773930</li><li>rs11668502</li><li>rs2608738</li><li>rs2608737</li><li>rs3888834</li><li>rs11671361</li>	2
Q149N8	257218	<ul><li>Q->R at 438: in an ovarian cancer cell line<li>S->F at 460: in a melanoma cell line<li>N->Y at 1028: in a melanoma cell line</ul>										2
Q14C87	121256	<ul><li>E->Q at 436: in dbSNP:rs12816729<li>D->H at 460: in dbSNP:rs12816538<li>L->F at 878: in dbSNP:rs555131</ul>									<li>rs555131</li><li>rs12816538</li><li>rs12816729</li>	2
Q14CA7		<ul><li>V->I at 111: in dbSNP:rs17163344<li>Q->H at 138: in dbSNP:rs7533480<li>F->S at 200: in dbSNP:rs159529</ul>									<li>rs17163344</li><li>rs7533480</li><li>rs159529</li>	2
Q14CB8	84986	<ul><li>Q->R at 305: in dbSNP:rs17112598</ul>									rs17112598	2
Q14CN2	22802	<ul><li>P->S at 43: in dbSNP:rs2231580<li>D->V at 443: in dbSNP:rs2839932<li>M->L at 449: in dbSNP:rs1011048<li>V->L at 810: in dbSNP:rs2231604<li>Missing at 877-878</ul>									<li>rs1011048</li><li>rs2839932</li><li>rs2231580</li><li>rs2231604</li>	2
Q14CN4	140807	<ul><li>N->D at 171: in dbSNP:rs11170187<li>Y->C at 264: in dbSNP:rs12833456<li>D->E at 366: in dbSNP:rs7310138<li>R->L at 428: in dbSNP:rs11170183</ul>									<li>rs11170187</li><li>rs11170183</li><li>rs12833456</li><li>rs7310138</li>	2
Q14CX7	80018	<ul><li>L->F at 426: in dbSNP:rs16941860<li>S->R at 789: in a breast cancer sample; somatic mutation<li>K->R at 876: in dbSNP:rs12231744<li>L->I at 915: in dbSNP:rs12298022</ul>									<li>rs12231744</li><li>rs12298022</li><li>rs16941860</li>	2
Q14CZ0	29035	<ul><li>N->S at 221: in dbSNP:rs34869458</ul>									rs34869458	2
Q14CZ7	79072	<ul><li>L->V at 22: in a breast cancer sample; somatic mutation<li>R->K at 56: in dbSNP:rs2966952<li>E->G at 459: in dbSNP:rs16879259</ul>									<li>rs16879259</li><li>rs2966952</li>	2
Q14CZ8	220296	<ul><li>M->V at 218: in dbSNP:rs10790715</ul>									rs10790715	2
Q14D04	79674	<ul><li>S->C at 208: in dbSNP:rs34559487<li>V->G at 263: in dbSNP:rs1378796<li>S->C at 271: in dbSNP:rs1378795<li>M->V at 319: in dbSNP:rs11923380<li>L->V at 329: in dbSNP:rs34823544<li>R->Q at 365: in dbSNP:rs16827563<li>S->P at 522: in dbSNP:rs11918974</ul>									<li>rs1378796</li><li>rs16827563</li><li>rs11918974</li><li>rs34823544</li><li>rs11923380</li><li>rs34559487</li><li>rs1378795</li>	2
Q14DG7	114795	<ul><li>A->V at 658: in dbSNP:rs16919359</ul>									rs16919359	2
Q15003	23397	<ul><li>V->A at 539: in dbSNP:rs2305935</ul>									rs2305935	2
Q15004	9768	<ul><li>E->K at 79: in dbSNP:rs11554313</ul>									rs11554313	2
Q15007	9589	<ul><li>E->D at 84: in dbSNP:rs35059844</ul>									rs35059844	2
Q15011	9709	<ul><li>R->H at 50: in dbSNP:rs2217332</ul>									rs2217332	2
Q15020	9733	<ul><li>D->E at 23: in dbSNP:rs2072579<li>V->M at 591: in DSAP1, MIM: 175900<li>E->D at 621: in dbSNP:rs2287546, MIM: 175900</ul>								Disseminated superficial actinic porokeratosis type 1 (DSAP1) [MIM:175900]	<li>rs2072579</li><li>rs2287546</li>	2
Q15021	9918	<ul><li>E->Q at 83: in dbSNP:rs714774<li>V->M at 797: in dbSNP:rs10849482</ul>									<li>rs10849482</li><li>rs714774</li>	2
Q15022	23512	<ul><li>N->I at 216: in dbSNP:rs17339444</ul>									rs17339444	2
Q15024		<ul><li>R->Q at 169: in dbSNP:rs34512144<li>L->V at 274: in dbSNP:rs6794</ul>									<li>rs6794</li><li>rs34512144</li>	2
Q15025	10318	<ul><li>P->S at 103: in dbSNP:rs2303018<li>A->V at 146: in dbSNP:rs2233289<li>P->A at 151: in dbSNP:rs2233290<li>R->Q at 233: in dbSNP:rs2233292<li>A->V at 260: in dbSNP:rs2233295</ul>									<li>rs2233295</li><li>rs2233290</li><li>rs2233292</li><li>rs2233289</li><li>rs2303018</li>	2
Q15027	9744	<ul><li>R->C at 68: in dbSNP:rs35933585<li>K->R at 114: in a breast cancer sample; somatic mutation<li>R->Q at 129: in a colorectal cancer sample; somatic mutation<li>R->W at 533: in dbSNP:rs35019942</ul>									<li>rs35019942</li><li>rs35933585</li>	2
Q15029	9343	<ul><li>G->V at 773: in dbSNP:rs1056505</ul>									rs1056505	2
Q15031	23395	<ul><li>K->N at 727: in dbSNP:rs36054230<li>E->D at 831: in dbSNP:rs9827689</ul>									<li>rs9827689</li><li>rs36054230</li>	2
Q15032	23518	<ul><li>M->V at 270: in dbSNP:rs961360<li>Q->P at 632: in dbSNP:rs2305165</ul>									<li>rs2305165</li><li>rs961360</li>	2
Q15034	8916	<ul><li>E->Q at 946: in dbSNP:rs1804080</ul>									rs1804080	2
Q15040	9929	<ul><li>S->R at 48: in dbSNP:rs6001200</ul>									rs6001200	2
Q15042	22930	<ul><li>N->S at 598: in dbSNP:rs10445686</ul>									rs10445686	2
Q15043	23516	<ul><li>P->L at 33: in dbSNP:rs896378</ul>									rs896378	2
Q15046	3735	<ul><li>G->A at 179: in dbSNP:rs11557665<li>T->S at 595: in dbSNP:rs6834</ul>									<li>rs11557665</li><li>rs6834</li>	2
Q15047	9869	<ul><li>N->S at 236: in dbSNP:rs2271075<li>P->S at 506: in dbSNP:rs17852587<li>A->G at 824: in dbSNP:rs2691551<li>A->P at 824: in dbSNP:rs2814054</ul>									<li>rs2814054</li><li>rs2691551</li><li>rs17852587</li><li>rs2271075</li>	2
Q15048	9684	<ul><li>G->D at 437: in dbSNP:rs3735854</ul>									rs3735854	2
Q15049	23209	<ul><li>G->E at 59: in MLC, MIM: 604004<li>P->S at 92: in MLC, MIM: 604004<li>S->L at 93: in MLC, MIM: 604004<li>T->R at 118: in MLC, MIM: 604004<li>N->K at 141: in MLC, MIM: 604004<li>N->S at 141: in MLC, MIM: 604004<li>C->F at 171: in dbSNP:rs6010260, MIM: 604004<li>G->R at 212: in MLC, MIM: 604004<li>S->L at 280: in MLC, MIM: 604004<li>L->M at 309: in PC, MIM: 604004<li>N->S at 344: in dbSNP:rs11568188, MIM: 604004</ul>								Megalencephalic leukoencephalopathy with subcortical cysts (MLC) [MIM:604004]	<li>rs6010260</li><li>rs11568188</li>	2
Q15050	23212	<ul><li>Q->H at 116: in dbSNP:rs34077648<li>K->R at 126: in dbSNP:rs3739335<li>R->L at 191: in dbSNP:rs3739336</ul>									<li>rs34077648</li><li>rs3739335</li><li>rs3739336</li>	2
Q15051	9657	<ul><li>F->L at 142: in dbSNP:rs11926958<li>I->N at 393: in dbSNP:rs1141528<li>R->C at 435: in dbSNP:rs11920543</ul>									<li>rs11926958</li><li>rs11920543</li><li>rs1141528</li>	2
Q15052	9459	<ul><li>Q->H at 297: in dbSNP:rs5974620</ul>									rs5974620	2
Q15053		<ul><li>Q->K at 26: in dbSNP:rs2269650</ul>									rs2269650	2
Q15058	9928	<ul><li>P->A at 1633: in dbSNP:rs12120084</ul>									rs12120084	2
Q15059	8019	<ul><li>T->N at 36: in a renal clear cell carcinoma sample; somatic mutation<li>A->T at 161: in a gastric adenocarcinoma sample; somatic mutation<li>A->V at 172: in dbSNP rsrs34609592<li>K->Q at 435: in dbSNP rsrs36093130<li>R->H at 441: in dbSNP rsrs56017928<li>S->P at 447: in dbSNP rsrs55754444</ul>									<li>rs34609592</li><li>rs55754444</li><li>rs36093130</li><li>rs56017928</li>	2
Q15063	10631	<ul><li>T->I at 339: in dbSNP:rs9594223<li>V->M at 814: in dbSNP:rs9547952</ul>									<li>rs9547952</li><li>rs9594223</li>	2
Q15067	51	<ul><li>G->S at 101: in dbSNP:rs3744032<li>T->I at 153: in dbSNP:rs17855420<li>G->C at 178: in pseudo-NALD, MIM: 264470<li>M->V at 278: in pseudo-NALD, MIM: 264470<li>I->M at 312: in dbSNP:rs1135640, MIM: 264470</ul>								Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	<li>rs1135640</li><li>rs17855420</li><li>rs3744032</li>	2
Q15070		<ul><li>V->A at 44: in dbSNP:rs8572<li>V->I at 91: in dbSNP:rs17619</ul>									<li>rs17619</li><li>rs8572</li>	2
Q15072	7705	<ul><li>R->K at 8: in dbSNP:rs2070132</ul>									rs2070132	2
Q15075	8411	<ul><li>K->Q at 810: in dbSNP:rs10745623</ul>									rs10745623	2
Q15080	4689	<ul><li>L->I at 147<li>R->H at 153: in dbSNP:rs35160112</ul>									rs35160112	2
Q15084	10130	<ul><li>K->R at 214: in dbSNP:rs4807</ul>									rs4807	2
Q15102	5050	<ul><li>R->G at 214: in dbSNP:rs1043818</ul>									rs1043818	2
Q15109	177	<ul><li>G->S at 82: in dbSNP:rs2070600<li>Q->R at 100: in dbSNP rsrs17846806</ul>									<li>rs17846806</li><li>rs2070600</li>	2
Q15111	5334	<ul><li>D->N at 445: in dbSNP:rs45506698<li>P->S at 454: in dbSNP:rs45506696<li>S->F at 546: in dbSNP:rs45596936<li>V->I at 667: in dbSNP:rs1064213<li>W->C at 684: in dbSNP:rs6741084<li>S->N at 937: in dbSNP:rs45452996</ul>									<li>rs45452996</li><li>rs1064213</li><li>rs45506696</li><li>rs45506698</li><li>rs6741084</li><li>rs45596936</li>	2
Q15116	5133	<ul><li>A->V at 215: in dbSNP:rs2227982</ul>									rs2227982	2
Q15118	5163	<ul><li>A->T at 134: in dbSNP:rs35661499<li>N->T at 412: in dbSNP:rs34250425</ul>									<li>rs34250425</li><li>rs35661499</li>	2
Q15119	5164	<ul><li>G->R at 342: in a glioblastoma multiforme sample; somatic mutation: in dbSNP rsrs17855787</ul>									rs17855787	2
Q15120	5165	<ul><li>E->A at 219: in a head & Neck squamous cell carcinoma sample; somatic mutation</ul>										2
Q15125	10682	<ul><li>E->K at 80: in CDPX2: in dbSNP rsrs28936073, MIM: 302960<li>R->Q at 110: in CDPX2, MIM: 302960<li>R->G at 147: in CDPX2, MIM: 302960<li>R->H at 147: in CDPX2: in dbSNP rsrs28935174, MIM: 302960</ul>								Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]	<li>rs28935174</li><li>rs28936073</li>	2
Q15126	10654	<ul><li>V->M at 125: in dbSNP:rs16836525</ul>									rs16836525	2
Q15131	8558	<ul><li>P->L at 96: in dbSNP rsrs55819627<li>N->S at 168: in dbSNP rsrs56340740<li>R->H at 342: in dbSNP rsrs55757604<li>C->Y at 358: in dbSNP rsrs56242003</ul>									<li>rs56242003</li><li>rs55819627</li><li>rs55757604</li><li>rs56340740</li>	2
Q15139	5587	<ul><li>H->Y at 152: in a colorectal cancer sample; somatic mutation<li>S->P at 225<li>K->Q at 478: in dbSNP:rs55852813<li>P->S at 585: in a metastatic melanoma sample; somatic mutation<li>R->M at 677: in a lung bronchoalveolar carcinoma sample; somatic mutation<li>P->L at 679: in dbSNP:rs34588699<li>R->K at 825: in dbSNP:rs11161065<li>E->K at 857: in a colorectal cancer sample; somatic mutation<li>H->R at 891: in dbSNP:rs45582934</ul>									<li>rs45582934</li><li>rs11161065</li><li>rs34588699</li><li>rs55852813</li>	2
Q15149	5339	<ul><li>L->LL at 429: in MD-EBS<li>A->V at 641: in dbSNP:rs11136336<li>Missing  at 1003-1005: in MD-EBS<li>R->W at 2110: in O-EBS, MIM: 131950<li>R->W at 2150: in dbSNP:rs34893635, MIM: 131950<li>A->V at 2194: in dbSNP:rs7002002, MIM: 131950<li>S->P at 2791: in dbSNP:rs7833924, MIM: 131950<li>R->W at 2821: in dbSNP:rs35723243, MIM: 131950<li>R->H at 2969: in dbSNP:rs6558407, MIM: 131950<li>V->I at 3162: in dbSNP:rs35027700, MIM: 131950<li>A->V at 3171: in dbSNP:rs35858667, MIM: 131950<li>T->M at 3486: in dbSNP:rs34725742, MIM: 131950<li>G->A at 3490: in dbSNP:rs35261863, MIM: 131950</ul>								Epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950]	<li>rs34893635</li><li>rs35723243</li><li>rs11136336</li><li>rs7833924</li><li>rs35027700</li><li>rs6558407</li><li>rs35261863</li><li>rs34725742</li><li>rs7002002</li><li>rs35858667</li>	2
Q15154	5108	<ul><li>S->N at 159: in dbSNP:rs412750<li>A->D at 176: in dbSNP:rs2285302<li>V->M at 597: in dbSNP:rs208753<li>S->P at 600: in dbSNP:rs34325017<li>A->S at 691: in dbSNP:rs17635381<li>G->V at 871: in dbSNP:rs7009117<li>R->H at 1251: in dbSNP:rs17514547<li>E->D at 1326: in dbSNP:rs34932823<li>T->I at 1543: in dbSNP:rs370429<li>K->N at 1701: in dbSNP:rs36113670<li>N->D at 1865: in dbSNP:rs35789133</ul>									<li>rs17635381</li><li>rs370429</li><li>rs35789133</li><li>rs34325017</li><li>rs412750</li><li>rs34932823</li><li>rs7009117</li><li>rs2285302</li><li>rs208753</li><li>rs17514547</li><li>rs36113670</li>	2
Q15155	23420	<ul><li>I->V at 404: in dbSNP:rs2561962<li>K->N at 458<li>N->D at 490: in dbSNP:rs1062412<li>M->V at 493: in dbSNP:rs1062413<li>E->K at 1081<li>I->F at 1141<li>R->G at 1195</ul>									<li>rs2561962</li><li>rs1062413</li><li>rs1062412</li>	2
Q15165	5445	<ul><li>A->G at 148: associated with elevated mean fasting plasma glucose level; dbSNP:rs12026<li>V->L at 172: in dbSNP:rs17876152<li>C->S at 311: associated with increased risk of coronary heart disease; CHD; dbSNP:rs7493</ul>							<li>Q2YWJ5</li><li>Q6D6D9</li><li>Q6LGH5</li><li>Q8NE62</li><li>Q0TKW1</li><li>Q8FKI9</li><li>Q9L4K0</li><li>Q6G664</li><li>Q8YFY2</li><li>Q5HCU1</li><li>Q1RFM3</li><li>Q2FV11</li><li>Q985M5</li><li>Q8G1Z8</li><li>Q8UH55</li><li>Q3K5H3</li><li>Q9HTJ2</li><li>Q62CH8</li><li>Q4A0Q1</li><li>Q8P5D7</li><li>Q6GDJ1</li><li>Q1QXE1</li><li>Q88AE7</li><li>Q4K4K7</li><li>Q39A44</li><li>Q2KB43</li><li>Q1MJU4</li><li>Q5HL11</li><li>Q8NUM0</li><li>Q4L9D7</li><li>P54223</li><li>Q7MF12</li><li>Q6FDF9</li><li>P17444</li><li>Q3BXK8</li><li>Q4ZM63</li><li>Q63KK7</li><li>Q8ZGW0</li><li>Q48CM7</li><li>Q88CW6</li><li>Q66D54</li><li>Q8CMY2</li><li>Q8X6C6</li><li>Q1CFR7</li><li>Q4UYN5</li><li>Q8BJ64</li><li>Q8D3K2</li><li>P60336</li><li>Q1BQE2</li><li>P60337</li><li>Q8PPG8</li><li>Q1C932</li><li>Q2FDP9</li><li>Q9X2M2</li><li>Q13NG7</li><li>Q3JLL7</li><li>Q2T6D0</li>		<li>rs7493</li><li>rs12026</li><li>rs17876152</li>	2
Q15166	5446	<ul><li>E->K at 146: in dbSNP:rs17878827<li>A->D at 179: in dbSNP:rs17883013</ul>									<li>rs17883013</li><li>rs17878827</li>	2
Q15181	5464	<ul><li>K->N at 57: in a breast cancer sample; somatic mutation</ul>										2
Q15198	5157	<ul><li>H->Y at 23: in CRC; somatic mutation, MIM: 114500</ul>							<li>Q8L925</li><li>P16960</li>	Colorectal cancer (CRC) [MIM:114500]		2
Q15208	11329	<ul><li>E->K at 18: in a metastatic melanoma sample; somatic mutation<li>D->N at 145: in dbSNP rsrs56005153<li>K->R at 267: in dbSNP rsrs56105564</ul>									<li>rs56105564</li><li>rs56005153</li>	2
Q15238	5673	<ul><li>K->N at 154: in dbSNP:rs1058259</ul>									rs1058259	2
Q15256	5801	<ul><li>K->R at 314: in dbSNP:rs3803036</ul>									rs3803036	2
Q15257	5524	<ul><li>K->R at 28: in dbSNP:rs17481693<li>R->Q at 208: in dbSNP:rs4836639<li>S->L at 357: in dbSNP:rs2480452</ul>									<li>rs2480452</li><li>rs4836639</li><li>rs17481693</li>	2
Q15269	5822	<ul><li>D->N at 25: in dbSNP:rs2020945<li>E->K at 174: in dbSNP:rs35001460<li>F->I at 551: in dbSNP:rs17856422</ul>									<li>rs2020945</li><li>rs35001460</li><li>rs17856422</li>	2
Q15274	23475	<ul><li>A->V at 158: in dbSNP:rs2303255<li>A->T at 195: in dbSNP:rs9932770</ul>									<li>rs2303255</li><li>rs9932770</li>	2
Q15276	9135	<ul><li>E->G at 640: in dbSNP:rs3026099</ul>									rs3026099	2
Q15293	5954	<ul><li>T->N at 71: in dbSNP:rs1061145<li>D->Y at 73: in dbSNP:rs1804281<li>Q->E at 74: in dbSNP:rs1061143<li>F->L at 117: in a colorectal cancer sample; somatic mutation<li>R->P at 188: in dbSNP:rs1061080</ul>									<li>rs1061080</li><li>rs1804281</li><li>rs1061143</li><li>rs1061145</li>	2
Q15303	2066	<ul><li>T->I at 140: in a colorectal adenocarcinoma sample; somatic mutation<li>S->Y at 303: in a lung squamous cell carcinoma sample; somatic mutation</ul>										2
Q15311	10928	<ul><li>A->V at 617: in dbSNP:rs35867116</ul>									rs35867116	2
Q15319	5459	<ul><li>L->P at 223: in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression, MIM: 602459<li>L->F at 289: in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression, MIM: 602459</ul>			binding	GO:0005488	<li>cytoplasm</li><li>nucleus</li>	<li>GO:0005737</li><li>GO:0005634</li>		Non-syndromic sensorineural deafness autosomal dominant type 15 (DFNA15) [MIM:602459]		2
Q15323	3881	<ul><li>A->G at 39: in dbSNP:rs6503628<li>A->V at 82: in dbSNP:rs6503627<li>A->V at 377: in dbSNP:rs34293483</ul>									<li>rs6503627</li><li>rs6503628</li><li>rs34293483</li>	2
Q15327	27063	<ul><li>T->M at 116: in TAPVR, MIM: 106700</ul>								Total anomalous pulmonary venous return (TAPVR) [MIM:106700]		2
Q15329	1875	<ul><li>G->A at 18: in dbSNP rsrs4150841</ul>									rs4150841	2
Q15345	10489	<ul><li>V->I at 609: in dbSNP:rs11542623</ul>									rs11542623	2
Q15349	6196	<ul><li>E->K at 311: in a metastatic melanoma sample; somatic mutation<li>R->Q at 732: in a colorectal adenocarcinoma sample; somatic mutation</ul>										2
Q15361	7270	<ul><li>E->K at 35: in dbSNP:rs11550314<li>A->S at 290: in dbSNP:rs8999<li>V->A at 303: in dbSNP:rs3739914<li>G->V at 360: in dbSNP:rs3739915<li>R->Q at 401: in dbSNP:rs3739916<li>E->K at 473: in dbSNP:rs12336746</ul>									<li>rs12336746</li><li>rs11550314</li><li>rs8999</li><li>rs3739915</li><li>rs3739916</li><li>rs3739914</li>	2
Q15375	2045	<ul><li>I->V at 138: in dbSNP:rs2278107<li>E->K at 170: in a colorectal adenocarcinoma sample; somatic mutation<li>G->R at 232: in a metastatic melanoma sample; somatic mutation<li>P->S at 278: in dbSNP:rs2278106<li>R->W at 371: in a colorectal cancer sample; somatic mutation<li>P->S at 903: in a metastatic melanoma sample; somatic mutation</ul>									<li>rs2278107</li><li>rs2278106</li>	2
Q15382	6009	<ul><li>E->K at 139: in a colorectal cancer sample; somatic mutation</ul>										2
Q15388	9804	<ul><li>P->L at 117: in dbSNP:rs16991984<li>V->L at 134: in dbSNP:rs1049510</ul>									<li>rs1049510</li><li>rs16991984</li>	2
Q15389	284	<ul><li>Missing  at 269: in cell line T98G; may be due to exon slippage</ul>										2
Q15391	9934	<ul><li>L->P at 140: in a colorectal cancer sample; somatic mutation</ul>										2
Q15392	1718	<ul><li>E->K at 191: in desmosterolosis: in dbSNP rsrs28939093, MIM: 602398<li>N->T at 294: in desmosterolosis, MIM: 602398<li>K->N at 306: in desmosterolosis, MIM: 602398<li>Y->S at 471: in desmosterolosis: in dbSNP rsrs28939092, MIM: 602398</ul>								Desmosterolosis [MIM:602398]	<li>rs28939093</li><li>rs28939092</li>	2
Q15393	23450	<ul><li>G->R at 908: in dbSNP:rs11551673</ul>									rs11551673	2
Q15397	9933	<ul><li>S->N at 13: in dbSNP:rs10968457<li>I->V at 264: in dbSNP:rs35869387<li>R->P at 289: in allele HA-8P and allele HA-8PL; dbSNP:rs2173904<li>V->L at 297: in allele HA-8PL; dbSNP:rs2270891<li>T->S at 414: in dbSNP:rs3736390<li>R->Q at 480: in dbSNP:rs2270889</ul>									<li>rs2270889</li><li>rs35869387</li><li>rs3736390</li><li>rs2270891</li><li>rs10968457</li><li>rs2173904</li>	2
Q15398	9787	<ul><li>G->E at 69: in dbSNP:rs2274271</ul>									rs2274271	2
Q15399	7096	<ul><li>R->T at 80: in dbSNP:rs5743611<li>H->Y at 118: in dbSNP:rs5743612<li>N->S at 248: in dbSNP:rs4833095<li>H->L at 305: in dbSNP:rs3923647<li>P->L at 315: in dbSNP:rs5743613<li>V->G at 587: in dbSNP:rs5743617<li>S->I at 602: in dbSNP:rs5743618<li>L->R at 631: in dbSNP:rs5743619<li>P->L at 733: in dbSNP:rs5743621</ul>									<li>rs5743617</li><li>rs5743618</li><li>rs3923647</li><li>rs5743619</li><li>rs4833095</li><li>rs5743613</li><li>rs5743611</li><li>rs5743621</li><li>rs5743612</li>	2
Q15413	6263	<ul><li>S->R at 261<li>I->V at 494: in dbSNP rsrs2077268<li>C->Y at 693<li>V->I at 731: in dbSNP rsrs2229116<li>E->G at 1380<li>Missing at 2268</ul>									<li>rs2229116</li><li>rs2077268</li>	2
Q15418	6195	<ul><li>K->T at 335: in dbSNP:rs2229712</ul>									rs2229712	2
Q15431	6847	<ul><li>E->D at 78: in dbSNP:rs12563933<li>E->D at 805: in dbSNP:rs1053812</ul>									<li>rs1053812</li><li>rs12563933</li>	2
Q15436	10484	<ul><li>L->V at 211: in dbSNP:rs8018720<li>F->L at 382: in CLSD; loss of function mutation; cargo proteins retained in the endoplasmic reticulum, MIM: 607812</ul>					endoplasmic reticulum	GO:0005783	Q24573	Craniolenticulosutural dysplasia (CLSD) [MIM:607812]	rs8018720	2
Q15437	10483	<ul><li>P->L at 433: in dbSNP:rs17807673<li>H->Q at 489: in dbSNP:rs2273526</ul>									<li>rs2273526</li><li>rs17807673</li>	2
Q15459	10291	<ul><li>R->W at 511: in a colorectal cancer sample; somatic mutation</ul>										2
Q15465	6469	<ul><li>R->T at 6: in HPE3, MIM: 142945<li>G->A at 27: in HPE3, MIM: 142945<li>G->R at 31: in HPE3; dbSNP:rs28936675, MIM: 142945<li>D->V at 88: in HPE3; familial, MIM: 142945<li>Q->H at 100: in HPE3; sporadic, MIM: 142945<li>Missing  at 106-107: in HPE3, MIM: 142945<li>A->D at 110: in HPE3, MIM: 142945<li>I->F at 111: in SMMCI, MIM: 147250<li>I->N at 111: in HPE3, MIM: 142945<li>N->K at 115: in HPE3; familial, MIM: 142945<li>W->G at 117: in HPE3, MIM: 142945<li>W->R at 117: in HPE3, MIM: 142945<li>H->P at 140: in HPE3, MIM: 142945<li>H->Q at 140: in HPE3, MIM: 142945<li>T->R at 150: in HPE3, MIM: 142945<li>Missing  at 176-178: in HPE3, MIM: 142945<li>C->F at 183: in HPE3, MIM: 142945<li>E->Q at 188: in HPE3; familial, MIM: 142945<li>D->N at 222: in HPE3; familial, MIM: 142945<li>V->E at 224: in HPE3, MIM: 142945<li>A->T at 226: in HPE3; familial, MIM: 142945<li>S->R at 236: in HPE3; familial, MIM: 142945<li>Missing  at 263-269: in HPE3; sporadic, MIM: 142945<li>T->I at 267: in HPE3, MIM: 142945<li>L->P at 271: in HPE3, MIM: 142945<li>G->D at 290: in HPE3; sporadic, MIM: 142945<li>V->A at 332: in HPE3, MIM: 142945<li>P->Q at 347: in HPE3, MIM: 142945<li>I->T at 354: in HPE3, MIM: 142945<li>A->T at 373: in HPE3, MIM: 142945<li>Missing  at 378-380: in HPE3; familial, MIM: 142945<li>R->P at 381: in HPE3, MIM: 142945<li>A->T at 383: in HPE3; sporadic, MIM: 142945<li>Missing  at 401-408: in ocular coloboma, MIM: 142945<li>Missing  at 404-408: in HPE3; familial, MIM: 142945<li>P->A at 424: in HPE3; familial, MIM: 142945<li>S->L at 436: in HPE3; sporadic, MIM: 142945</ul>								<li>Solitary median maxillary central incisor (SMMCI) [MIM:147250]</li><li>Holoprosencephaly type 3 (HPE3) [MIM:142945]</li>	rs28936675	2
Q15466	8431	<ul><li>R->W at 57: in early-onset obesity; Japanese population; loss of repressor activity, MIM: 601665<li>G->A at 171: in dbSNP:rs6659176, MIM: 601665<li>G->E at 189: in early-onset obesity; Japanese population; strong decrease of repressor activity, MIM: 601665<li>A->S at 195: in early-onset obesity; Japanese population; slight decrease of repressor activity, MIM: 601665<li>R->C at 213: in early-onset obesity; Japanese population; loss of repressor activity, MIM: 601665<li>R->H at 216: no effect on repressor activity, MIM: 601665</ul>								Early-onset obesity [MIM:601665]	rs6659176	2
Q15468	6491	<ul><li>A->V at 86: in dbSNP:rs3125630<li>H->R at 984: in dbSNP:rs13376679<li>P->R at 1012<li>A->V at 1145: in dbSNP:rs3766317</ul>									<li>rs13376679</li><li>rs3125630</li><li>rs3766317</li>	2
Q15475	6495	<ul><li>R->W at 110: in BOS3; crucial for EYA1-SIX1 interaction, MIM: 608389<li>Y->C at 129: in BOS3; crucial for EYA1-SIX1 interaction; crucial for SIX1-DNA protein-DNA binding, MIM: 608389<li>Missing  at 133: in DFNA23; crucial for EYA1-SIX1 interaction; crucial for SIX1-DNA protein-DNA binding, MIM: 608389</ul>			DNA binding	GO:0003677			<li>Q15475</li><li>Q9YHA0</li><li>Q99502</li>	Branchiootic syndrome type 3 (BOS3) [MIM:608389]		2
Q15477	6499	<ul><li>L->V at 183: in a breast cancer sample; somatic mutation<li>M->I at 765: in a colorectal cancer sample; somatic mutation</ul>										2
Q15485	2220	<ul><li>P->L at 80: in a colorectal cancer sample; somatic mutation<li>H->Y at 113: in dbSNP:rs17549179<li>G->S at 117: in dbSNP:rs12684476<li>T->M at 236: in dbSNP:rs17549193<li>A->S at 258: in dbSNP:rs7851696</ul>									<li>rs17549179</li><li>rs12684476</li><li>rs7851696</li><li>rs17549193</li>	2
Q15491	3084	<ul><li>G->R at 46: in dbSNP:rs3735774<li>A->P at 127: in dbSNP:rs34822181</ul>									<li>rs3735774</li><li>rs34822181</li>	2
Q15517	1041	<ul><li>M->L at 18: in dbSNP:rs3095318<li>L->F at 56: in allele 1.31 and allele 1.32; dbSNP:rs7742033<li>S->N at 143: in dbSNP:rs3130984<li>Missing  at 143: in allele 2.11<li>G->S at 145: in dbSNP:rs6457328<li>S->N at 150: in allele 2.21, allele 2.22 and allele 2.23<li>Missing at 153<li>S->F at 202: in allele 1.11, allele 1.21, allele 1.31, allele 1.32, allele 1.51, allele 1.52, allele 2.11, allele 2.21, allele 2.22 and allele 2.23; dbSNP:rs707913<li>Missing  at 253: in allele 1.32<li>S->G at 401: in allele 1.21; dbSNP:rs33941312<li>S->A at 408: in allele 1.51; dbSNP:rs1042127<li>S->L at 410: in allele 2.11, allele 2.21, allele 2.22 and allele 2.23; dbSNP:rs3132554<li>D->N at 527: in allele 2.21, allele 2.22 and allele 2.23; dbSNP:rs3130981</ul>									<li>rs3130981</li><li>rs707913</li><li>rs6457328</li><li>rs3095318</li><li>rs3132554</li><li>rs7742033</li><li>rs1042127</li><li>rs33941312</li><li>rs3130984</li>	2
Q15526	6834	<ul><li>N->K at 89: in a breast cancer sample; somatic mutation<li>G->E at 124: in LS: in dbSNP rsrs28933402, MIM: 256000<li>G->R at 124: in LS, MIM: 256000<li>D->H at 202, MIM: 256000<li>I->T at 246: in LS, MIM: 256000<li>Y->D at 274: in LS, MIM: 256000</ul>								Leigh syndrome (LS) [MIM:256000]	rs28933402	2
Q15527	6835	<ul><li>G->S at 213: in dbSNP:rs12763</ul>									rs12763	2
Q15542	6877	<ul><li>S->A at 130: in dbSNP:rs10883859</ul>									rs10883859	2
Q15544	6882	<ul><li>T->R at 68: in dbSNP:rs15922<li>S->F at 155: in dbSNP:rs11537996</ul>									<li>rs15922</li><li>rs11537996</li>	2
Q15545	6879	<ul><li>S->R at 178</ul>										2
Q15554	7014	<ul><li>S->G at 413: in dbSNP:rs35874485</ul>									rs35874485	2
Q15555	10982	<ul><li>Y->C at 162: in dbSNP:rs11538993</ul>									rs11538993	2
Q15561	7004	<ul><li>P->S at 323: in dbSNP:rs11550887</ul>									rs11550887	2
Q15569	7016	<ul><li>H->Y at 539: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation<li>G->S at 574: in dbSNP:rs55673450</ul>									rs55673450	2
Q15572	9013	<ul><li>S->F at 304: in dbSNP:rs4150145<li>R->H at 357: in dbSNP:rs4150147<li>S->L at 387: in dbSNP:rs4150151<li>H->Y at 518: in dbSNP:rs4150165<li>P->L at 573: in dbSNP:rs4150170<li>L->M at 575: in dbSNP:rs2230129<li>A->G at 591: in dbSNP:rs4150172<li>G->S at 635: in dbSNP:rs4150173<li>T->M at 791: in dbSNP:rs4150175<li>P->L at 793: in dbSNP:rs2230131<li>R->H at 816: in dbSNP:rs4150176</ul>									<li>rs4150173</li><li>rs4150176</li><li>rs2230129</li><li>rs4150175</li><li>rs4150170</li><li>rs4150147</li><li>rs4150172</li><li>rs4150145</li><li>rs2230131</li><li>rs4150151</li><li>rs4150165</li>	2
Q15573	9015	<ul><li>I->M at 98: in dbSNP:rs17163271</ul>									rs17163271	2
Q15582	7045	<ul><li>V->I at 113: in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities<li>D->H at 123: in granular corneal dystrophy; unclassified form; Hanoi<li>R->C at 124: in CDL1, MIM: 122200<li>R->H at 124: in ACD; most common mutation in Japanese, MIM: 607541<li>R->L at 124: in CDRB, MIM: 608470<li>R->S at 124: in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity, MIM: 121900<li>Missing  at 125-126: associated with Leu-124 in atypical granular dystrophy; French granular variant, MIM: 121900<li>I->F at 200: in dbSNP rsrs45455404, MIM: 121900<li>L->F at 269, MIM: 121900<li>R->G at 496: in dbSNP:rs10057190, MIM: 121900<li>P->T at 501: in CDL3A, MIM: 608471<li>V->D at 505: in CDL1, MIM: 122200<li>L->R at 509: in EBMD, MIM: 121820<li>L->P at 518: in CDL1, MIM: 122200<li>L->R at 518: in CDL1; severe phenotype; delayed age of onset, MIM: 122200<li>L->R at 527: in CDL1; late-onset; found also in sporadic cases, MIM: 122200<li>T->R at 538: in CDL1; delayed age of onset, MIM: 122200<li>V->D at 539: in lattice corneal dystrophy; unclassified form, MIM: 122200<li>F->S at 540: in CDL3A, MIM: 608471<li>Missing  at 540: in CDRB, MIM: 608471<li>N->S at 544: in CDL; late-onset, MIM: 608471<li>A->D at 546: in CDL1; associated with Q-551, MIM: 122200<li>A->T at 546: in CDL3A, MIM: 608471<li>P->Q at 551: in CDL1; associated with D-546, MIM: 122200<li>R->Q at 555: in CDTB; originally thought to cause CDRB, MIM: 602082<li>R->W at 555: in CDGG1; common mutation in Europe and United States; rare in Japan, MIM: 121900<li>L->R at 569: in CDL1, MIM: 122200<li>H->R at 572: in CDL1; late-onset, MIM: 122200<li>Missing  at 572: in CDL1; late-onset and unilateral phenotype, MIM: 122200<li>G->V at 594: in lattice corneal dystrophy; unclassified form, MIM: 122200<li>N->H at 622: in asymmetric lattice corneal dystrophy, MIM: 122200<li>N->K at 622: in CDL3A, MIM: 608471<li>G->D at 623: in CDL1; delayed age of onset, MIM: 122200<li>Missing  at 624-625: in lattice corneal dystrophy; unclassified form, MIM: 122200<li>H->P at 626: in CDL1, MIM: 122200<li>H->R at 626: in CDL1; delayed age of onset, MIM: 122200<li>V->D at 631: in CDL, MIM: 122200<li>R->S at 666: in EBMD; low penetrance in one family, MIM: 121820</ul>							<li>Q8Z6A7</li><li>Q46669</li><li>Q96AP0</li>	<li>Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]</li><li>Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]</li><li>Corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082]</li><li>Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820]</li><li>Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]</li><li>Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470]</li><li>Avellino corneal dystrophy (ACD) [MIM:607541]</li>	<li>rs45455404</li><li>rs10057190</li>	2
Q15583	7050	<ul><li>S->C at 157: in HPE4, MIM: 142946<li>P->R at 192: in HPE4, MIM: 142946<li>Q->L at 236: in HPE4: in dbSNP rsrs28939693, MIM: 142946<li>T->A at 280: in HPE4, MIM: 142946<li>P->S at 289: in dbSNP:rs11571512, MIM: 142946<li>S->F at 291: in HPE4, MIM: 142946<li>P->L at 292: in dbSNP:rs2229333, MIM: 142946</ul>								Holoprosencephaly type 4 (HPE4) [MIM:142946]	<li>rs2229333</li><li>rs11571512</li><li>rs28939693</li>	2
Q15596	10499	<ul><li>M->I at 1282: in dbSNP:rs2228591</ul>									rs2228591	2
Q155Q3	85458	<ul><li>K->R at 300: in dbSNP:rs34575249</ul>									rs34575249	2
Q15612	158131	<ul><li>Q->R at 24: in dbSNP:rs972925<li>I->M at 163: in dbSNP:rs1329957<li>T->A at 240: in dbSNP:rs727913</ul>									<li>rs727913</li><li>rs1329957</li><li>rs972925</li>	2
Q15617	26494	<ul><li>A->V at 247: in dbSNP:rs4482039</ul>									rs4482039	2
Q15619	26188	<ul><li>T->M at 209: in dbSNP:rs12068080</ul>									rs12068080	2
Q15633	6895	<ul><li>S->F at 251: in dbSNP:rs1126500</ul>									rs1126500	2
Q15637	7536	<ul><li>S->T at 357</ul>										2
Q15643	9321	<ul><li>T->I at 1846</ul>										2
Q15646	8638	<ul><li>N->I at 341: in dbSNP:rs35249920</ul>									rs35249920	2
Q15648	5469	<ul><li>P->T at 753: in dbSNP:rs1139825<li>S->G at 1240: in dbSNP:rs35668211</ul>									<li>rs35668211</li><li>rs1139825</li>	2
Q15652	221037	<ul><li>A->T at 272: in dbSNP:rs34798625<li>E->D at 394: in dbSNP:rs35380596<li>S->T at 464: in dbSNP:rs10761725<li>N->Y at 1393: in dbSNP:rs9703886<li>D->E at 2400: in dbSNP:rs34491125<li>E->D at 2535: in dbSNP:rs1935</ul>									<li>rs34798625</li><li>rs9703886</li><li>rs34491125</li><li>rs1935</li><li>rs35380596</li><li>rs10761725</li>	2
Q15653	4793	<ul><li>R->W at 339: in dbSNP:rs17886215</ul>									rs17886215	2
Q15654	7205	<ul><li>V->I at 230: in dbSNP:rs2075756<li>L->F at 296: in dbSNP rsrs17855370</ul>									<li>rs2075756</li><li>rs17855370</li>	2
Q15661	7177	<ul><li>A->V at 18: in dbSNP:rs1800984<li>G->V at 23: in dbSNP:rs1141965<li>A->T at 85: in dbSNP:rs1141968<li>N->K at 132: in dbSNP:rs1800991<li>H->R at 136: in dbSNP:rs1064780<li>T->A at 141: in dbSNP:rs1800992<li>D->N at 162: in dbSNP:rs2234641<li>P->S at 170: in dbSNP:rs2234904<li>T->S at 215: in dbSNP:rs2234905<li>R->Q at 216: in dbSNP:rs2234906</ul>									<li>rs1141965</li><li>rs1800984</li><li>rs1800992</li><li>rs1064780</li><li>rs2234641</li><li>rs1800991</li><li>rs1141968</li><li>rs2234904</li><li>rs2234906</li><li>rs2234905</li>	2
Q15672	7291	<ul><li>S->G at 31: in dbSNP:rs1800126<li>G->S at 84: in dbSNP:rs2234705<li>Q->P at 119: in SCS, MIM: 101400<li>L->P at 131: in SCS, MIM: 101400<li>I->IAALRKII at 135: in SCS, MIM: 101400<li>P->PKIIPTLP at 139: in SCS, MIM: 101400<li>I->V at 156: in SCS; variant form with features overlapping Baller-Gerold syndrome, MIM: 101400<li>A->T at 186: in CRS1, MIM: 123100<li>S->L at 188: in CRS1, MIM: 123100</ul>							O81191	<li>Saethre-Chotzen syndrome (SCS) [MIM:101400]</li><li>Craniosynostosis type 1 (CRS1) [MIM:123100]</li>	<li>rs2234705</li><li>rs1800126</li>	2
Q15678	5784	<ul><li>Q->E at 159: in a breast cancer sample; somatic mutation<li>H->P at 360: in a breast cancer sample; somatic mutation<li>V->F at 505: in dbSNP:rs12239356</ul>									rs12239356	2
Q15695		<ul><li>S->G at 155: in dbSNP:rs712665<li>S->N at 444: in dbSNP:rs430665</ul>									<li>rs430665</li><li>rs712665</li>	2
Q15726	3814	<ul><li>E->K at 20: in dbSNP:rs12998<li>Q->R at 36: in dbSNP rsrs35431622<li>P->R at 81: in dbSNP:rs4889</ul>									<li>rs35431622</li><li>rs12998</li><li>rs4889</li>	2
Q15735		<ul><li>S->I at 333: in dbSNP:rs12485025</ul>									rs12485025	2
Q15738	50814	<ul><li>A->V at 105: in CHILD, MIM: 308050<li>G->S at 205: in CHILD: in dbSNP rsrs28935175, MIM: 308050</ul>								Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	rs28935175	2
Q15746	4638	<ul><li>V->A at 261: in dbSNP rsrs3796164<li>T->A at 276: in dbSNP rsrs55846245<li>R->H at 378: in dbSNP rsrs56378658<li>M->V at 405: in dbSNP rsrs35436690<li>P->S at 443: in dbSNP rsrs35156360<li>R->G at 607<li>P->A at 652<li>W->C at 656<li>T->M at 692<li>A->T at 701<li>V->M at 709<li>L->P at 861: in dbSNP:rs3732486<li>D->E at 914: in dbSNP:rs3732487<li>A->V at 1527: in dbSNP rsrs34982967<li>P->L at 1588: in an ovarian mucinous carcinoma sample; somatic mutation</ul>									<li>rs56378658</li><li>rs35436690</li><li>rs3796164</li><li>rs34982967</li><li>rs3732487</li><li>rs3732486</li><li>rs55846245</li><li>rs35156360</li>	2
Q15750	10454	<ul><li>D->E at 224: in dbSNP:rs17001096</ul>									rs17001096	2
Q15751	8925	<ul><li>L->F at 1088: in dbSNP:rs1063423<li>L->F at 1278: in dbSNP:rs3764187<li>G->V at 1411: in dbSNP:rs36089909<li>H->N at 1447: in dbSNP:rs7162519<li>S->A at 1572: in dbSNP:rs16947363<li>A->G at 1696: in dbSNP:rs2255243<li>T->A at 1995: in dbSNP:rs2228512<li>V->I at 2220: in dbSNP:rs2228510<li>A->T at 2816: in dbSNP:rs35122568<li>S->F at 3152: in dbSNP:rs2228513<li>G->R at 3517: in dbSNP:rs7182782<li>D->E at 3722: in dbSNP:rs2229749</ul>									<li>rs36089909</li><li>rs16947363</li><li>rs2228513</li><li>rs35122568</li><li>rs2228512</li><li>rs2255243</li><li>rs7182782</li><li>rs2228510</li><li>rs7162519</li><li>rs3764187</li><li>rs2229749</li><li>rs1063423</li>	2
Q15758	6510	<ul><li>P->A at 17: in dbSNP:rs3027956<li>V->L at 512: in dbSNP:rs3027961</ul>									<li>rs3027961</li><li>rs3027956</li>	2
Q15759	5600	<ul><li>A->V at 221: in a lung neuroendocrine carcinoma sample; somatic mutation<li>R->H at 275: in dbSNP:rs33932986</ul>									rs33932986	2
Q15760	2842	<ul><li>I->V at 189: in dbSNP:rs4763862</ul>									rs4763862	2
Q15762	10666	<ul><li>G->S at 307: in dbSNP:rs763361</ul>									rs763361	2
Q15768	1949	<ul><li>R->Q at 166</ul>										2
Q15772	10290	<ul><li>R->H at 206: in dbSNP rsrs55821435<li>R->C at 934: in dbSNP rsrs34398769<li>R->Q at 966: in dbSNP rsrs34861443<li>P->L at 1103: in dbSNP rsrs56334571<li>A->V at 1135: in dbSNP rsrs55670811<li>E->D at 1178: in a gastric adenocarcinoma sample; somatic mutation<li>R->W at 1234: in dbSNP rsrs55916864<li>R->Q at 1340: in dbSNP rsrs34994343<li>R->C at 1621: in dbSNP rsrs55646900<li>R->W at 1903: in an ovarian mucinous carcinoma sample; somatic mutation<li>P->T at 2687: in dbSNP rsrs13026308<li>V->M at 2742: in a gastric adenocarcinoma sample; somatic mutation<li>H->R at 3079: in dbSNP rsrs12464085</ul>									<li>rs56334571</li><li>rs13026308</li><li>rs55646900</li><li>rs34861443</li><li>rs55821435</li><li>rs55670811</li><li>rs34398769</li><li>rs55916864</li><li>rs12464085</li><li>rs34994343</li>	2
Q15773	8079	<ul><li>F->C at 80: in a colorectal cancer sample; somatic mutation</ul>										2
Q15776	7745	<ul><li>P->L at 163</ul>										2
Q15777	744	<ul><li>H->R at 67: in dbSNP:rs11556749</ul>									rs11556749	2
Q15782	1117	<ul><li>A->V at 182: in dbSNP:rs11556868<li>V->I at 184: in dbSNP:rs34049547</ul>									<li>rs34049547</li><li>rs11556868</li>	2
Q15788	8648	<ul><li>Q->K at 457: in dbSNP:rs1049015<li>N->K at 466: in dbSNP:rs1049016<li>S->P at 474: in dbSNP:rs1049018<li>I->T at 591: in dbSNP:rs1049020<li>E->A at 685: in dbSNP:rs1049021<li>P->A at 794: in dbSNP:rs1049025<li>S->F at 999: in dbSNP:rs1049032<li>M->T at 1154: in dbSNP:rs1049038<li>V->I at 1238: in dbSNP rsrs56099330<li>P->S at 1272: in dbSNP:rs1804645</ul>									<li>rs1804645</li><li>rs56099330</li><li>rs1049038</li><li>rs1049018</li><li>rs1049016</li><li>rs1049015</li><li>rs1049032</li><li>rs1049025</li><li>rs1049020</li><li>rs1049021</li>	2
Q15796	4087	<ul><li>R->C at 133: in colorectal carcinoma<li>D->V at 300: in a colorectal cancer sample; somatic mutation<li>Missing  at 344-358: in colorectal carcinoma<li>L->R at 440: in colorectal carcinoma<li>P->H at 445: in colorectal carcinoma<li>D->E at 450: in colorectal carcinoma</ul>										2
Q15800	6307	<ul><li>N->S at 124: in dbSNP:rs34499452</ul>									rs34499452	2
Q15813	6905	<ul><li>Missing  at 52-55: in HRD and KCS1<li>V->A at 205: in dbSNP:rs16832611<li>S->T at 333: in dbSNP:rs35579976<li>E->G at 409: in dbSNP:rs16832619</ul>							<li>Q12494</li><li>Q9MAM3</li>		<li>rs16832611</li><li>rs35579976</li><li>rs16832619</li>	2
Q15814	6903	<ul><li>A->V at 65: in dbSNP:rs2234026<li>G->D at 157: in dbSNP:rs7742995<li>P->S at 169: in dbSNP:rs2234027<li>P->S at 180: in dbSNP:rs2234028<li>A->T at 279: in dbSNP:rs12175072</ul>									<li>rs2234028</li><li>rs7742995</li><li>rs12175072</li><li>rs2234026</li><li>rs2234027</li>	2
Q15819	7336	<ul><li>E->G at 36: in dbSNP:rs11557776<li>D->H at 40: in dbSNP:rs14890<li>P->Q at 78: in dbSNP:rs11557786</ul>									<li>rs11557776</li><li>rs11557786</li><li>rs14890</li>	2
Q15822	1135	<ul><li>T->I at 22: in dbSNP:rs2472553<li>A->T at 125: in dbSNP:rs891398<li>I->N at 279: in ENFL4; markedly increases receptor sensitivity to acetylcholine, MIM: 610353</ul>								Nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]	<li>rs891398</li><li>rs2472553</li>	2
Q15825	8973	<ul><li>N->S at 447: in dbSNP:rs16891583</ul>									rs16891583	2
Q15831	6794	<ul><li>Y->D at 49: in melanoma; sporadic malignant; somatic mutation<li>L->P at 67: in PJS, MIM: 175200<li>R->K at 87: in a metastatic melanoma sample; somatic mutation, MIM: 175200<li>G->R at 135: in melanoma; sporadic malignant; somatic mutation, MIM: 175200<li>DGL->NDM at 162-164: in PJS, MIM: 175200<li>G->D at 163: in testicular tumors; a tumor with seminoma and teratoma components; associated with severely impaired but detectable kinase activity; somatic mutation, MIM: 273300<li>D->N at 194: in PJS, MIM: 175200<li>D->Y at 194: in melanoma; sporadic malignant; somatic mutation, MIM: 175200<li>W->C at 239: in PJS; late onset suggests reduced penetrance, MIM: 175200<li>Missing  at 247: in PJS, MIM: 175200<li>R->K at 297: in PJS, MIM: 175200<li>IRQH->N at 303-306: in PJS, MIM: 175200<li>P->S at 315: in PJS; pathogenicity uncertain, MIM: 175200</ul>			kinase activity	GO:0016301			Q15831	<li>Peutz-Jeghers syndrome (PJS) [MIM:175200]</li><li>Testicular tumors [MIM:273300]</li>		2
Q15833		<ul><li>V->I at 526: in dbSNP:rs6791</ul>									rs6791	2
Q15835	6011	<ul><li>E->Q at 136: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic<li>T->M at 298: in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance<li>N->S at 330: in patients with autosomal dominant retinitis pigmentosa; probably not pathogenic<li>V->D at 380: in CSNBO, MIM: 258100<li>P->H at 391: in CSNBO, MIM: 258100<li>R->H at 438: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic, MIM: 258100<li>C->S at 514: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic, MIM: 258100<li>M->T at 522: in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance, MIM: 258100<li>S->L at 536: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic, MIM: 258100</ul>								Congenital stationary night blindness Oguchi type (CSNBO) [MIM:258100]		2
Q15842	3764	<ul><li>V->A at 334: in dbSNP:rs34811413</ul>									rs34811413	2
Q15848	9370	<ul><li>G->R at 84: does not form high molecular weight multimers<li>G->S at 90: does not form high molecular weight multimers<li>Y->H at 111: in dbSNP:rs17366743<li>R->C at 112: in ADPND; does not assemble into trimers resulting in impaired secretion from the cell, MIM: 605441<li>V->M at 117, MIM: 605441<li>I->T at 164: associated with low plasma adiponectin concentration and diabetes mellitus type 2; does not assemble into trimers resulting in impaired secretion from the cell, MIM: 605441<li>R->S at 221, MIM: 605441<li>H->P at 241, MIM: 605441</ul>	secretion	GO:0046903						Adiponectin deficiency [MIM:605441]	rs17366743	2
Q15849	8170	<ul><li>A->T at 880: in dbSNP:rs3745009</ul>									rs3745009	2
Q15858	6335	<ul><li>S->T at 241: in primary erythermalgia, MIM: 133020<li>I->T at 859: in primary erythermalgia; sporadic; activated at more negative potentials; slower inactivation kinetics than wild-type channels, MIM: 133020<li>L->H at 869: in primary erythermalgia; activated at more negative potentials; slower inactivation kinetics than wild-type channels, MIM: 133020<li>M->L at 932: in dbSNP:rs12478318, MIM: 133020<li>R->C at 1007: in PEPD, MIM: 167400<li>R->W at 1161: in dbSNP:rs6746030, MIM: 167400<li>V->D at 1309: in PEPD, MIM: 167400<li>V->F at 1309: in PEPD, MIM: 167400<li>V->F at 1310: in PEPD, MIM: 167400<li>F->V at 1460: in primary erythermalgia; produces a hyperpolarizing shift in channel activation and a depolarizing shift in steady-state activation, MIM: 133020<li>I->T at 1472: in PEPD; reduction in fast inactivation leading to persistent sodium current, MIM: 167400<li>F->V at 1473: in PEPD, MIM: 167400<li>T->I at 1475: in PEPD; reduction in fast inactivation leading to persistent sodium current, MIM: 167400<li>M->K at 1638: in PEPD; reduction in fast inactivation leading to persistent sodium current, MIM: 167400<li>D->G at 1919: in dbSNP:rs3750904, MIM: 167400</ul>							P12955	<li>Primary erythermalgia [MIM:133020]</li><li>Paroxysmal extreme pain disorder (PEPD) [MIM:167400]</li>	<li>rs3750904</li><li>rs6746030</li><li>rs12478318</li>	2
Q15878	777	<ul><li>D->E at 859: in dbSNP:rs35737760<li>A->T at 1955: in dbSNP:rs704326</ul>									<li>rs704326</li><li>rs35737760</li>	2
Q15884	9413	<ul><li>T->I at 233: in dbSNP:rs35386391<li>R->K at 261: in dbSNP:rs11138396</ul>									<li>rs35386391</li><li>rs11138396</li>	2
Q15906	6944	<ul><li>I->V at 318: in a breast cancer sample; somatic mutation</ul>										2
Q15911	463	<ul><li>S->A at 72: in dbSNP:rs7193297<li>T->P at 428: in dbSNP:rs16971436<li>E->Q at 460: in dbSNP:rs2073852<li>V->A at 777: in dbSNP:rs4788682<li>A->S at 997: in dbSNP:rs2213978<li>A->V at 3374<li>Missing at 3377-3384<li>P->A at 3421: in dbSNP:rs8044440<li>G->GGG at 3527</ul>									<li>rs16971436</li><li>rs2213978</li><li>rs4788682</li><li>rs8044440</li><li>rs2073852</li><li>rs7193297</li>	2
Q15928	7700	<ul><li>K->E at 124: in dbSNP:rs2229296<li>R->K at 349: in dbSNP:rs955417<li>K->N at 358: in dbSNP:rs2018645</ul>									<li>rs2229296</li><li>rs955417</li><li>rs2018645</li>	2
Q15935	58492	<ul><li>C->S at 3: in dbSNP:rs12610412<li>L->W at 20: in dbSNP:rs34603238<li>P->S at 179: in dbSNP:rs34705382<li>G->R at 460: in dbSNP:rs35411355</ul>									<li>rs35411355</li><li>rs12610412</li><li>rs34603238</li><li>rs34705382</li>	2
Q15937	7633	<ul><li>T->I at 31: in dbSNP:rs13292096<li>R->G at 51: in dbSNP:rs4504745</ul>									<li>rs13292096</li><li>rs4504745</li>	2
Q15942	7791	<ul><li>H->L at 223: in dbSNP:rs11978404</ul>									rs11978404	2
Q16082	3316	<ul><li>G->S at 111: in dbSNP:rs4252589</ul>									rs4252589	2
Q16099	2900	<ul><li>V->I at 528: in dbSNP:rs35599906<li>M->T at 824: in dbSNP:rs9988907</ul>									<li>rs9988907</li><li>rs35599906</li>	2
Q16134	2110	<ul><li>V->L at 565: in a colorectal cancer sample; somatic mutation</ul>										2
Q16222	6675	<ul><li>P->H at 418: in dbSNP:rs1128539</ul>									rs1128539	2
Q16236	4780	<ul><li>R->Q at 43: in dbSNP:rs35248500<li>S->P at 99: in dbSNP:rs5031039<li>V->M at 268: in dbSNP:rs34154613</ul>									<li>rs5031039</li><li>rs34154613</li><li>rs35248500</li>	2
Q16254	1874	<ul><li>T->P at 293: in dbSNP:rs1801013<li>S->SSSS at 319</ul>									rs1801013	2
Q16270	3490	<ul><li>L->F at 11: in dbSNP:rs11573021</ul>									rs11573021	2
Q16280	1260	<ul><li>R->H at 97: in a breast cancer sample; somatic mutation<li>D->H at 118: in dbSNP:rs6627455<li>R->Q at 399: in a breast cancer sample; somatic mutation<li>E->K at 663: in dbSNP:rs714147</ul>									<li>rs6627455</li><li>rs714147</li>	2
Q16281	1261	<ul><li>P->L at 48<li>T->M at 153: in dbSNP:rs34314205<li>D->V at 162: in ACHM2, MIM: 216900<li>P->L at 163: in ACHM2, MIM: 216900<li>Y->C at 181: in ACHM2, MIM: 216900<li>N->Y at 182: in ACHM2, MIM: 216900<li>L->F at 186: in ACHM2, MIM: 216900<li>C->Y at 191: in ACHM2, MIM: 216900<li>E->K at 194: in ACHM2, MIM: 216900<li>E->K at 198: in dbSNP:rs2271041, MIM: 216900<li>R->W at 223: in ACHM2, MIM: 216900<li>T->R at 224: in ACHM2, MIM: 216900<li>E->K at 228: in ACHM2; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature, MIM: 216900<li>F->S at 249: in ACHM2, MIM: 216900<li>D->N at 260: in ACHM2, MIM: 216900<li>Y->D at 263: in ACHM2, MIM: 216900<li>G->D at 267: in ACHM2, MIM: 216900<li>R->C at 277: in ACHM2, MIM: 216900<li>R->H at 277: in ACHM2; does not form functional homomeric or heteromeric channels; cell surface expression levels is significantly reduced, MIM: 216900<li>R->Q at 283: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature, MIM: 216900<li>R->W at 283: in ACHM2, MIM: 216900<li>T->R at 291: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the K, MIM: 216900<li>Missing  at 312: in ACHM2, MIM: 216900<li>S->P at 341: in ACHM2, MIM: 216900<li>T->S at 369: in ACHM2, MIM: 216900<li>P->S at 372: in ACHM2, MIM: 216900<li>F->S at 380: in ACHM2, MIM: 216900<li>S->P at 401: in ACHM2, MIM: 216900<li>M->T at 406: in ACHM2, MIM: 216900<li>R->W at 410: in ACHM2, MIM: 216900<li>R->C at 427: in ACHM2, MIM: 216900<li>R->W at 436: in ACHM2, MIM: 216900<li>R->W at 439: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature, MIM: 216900<li>A->T at 469: in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit; is in large part located in the cell membrane at 37 and 27 degrees Celsius, MIM: 216900<li>N->S at 471: in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is unchanged, MIM: 216900<li>D->V at 485: in ACHM2, MIM: 216900<li>C->S at 510: in ACHM2, MIM: 216900<li>G->E at 513: in ACHM2, MIM: 216900<li>G->E at 516: in ACHM2, MIM: 216900<li>I->T at 522: in ACHM2, MIM: 216900<li>G->D at 525: in ACHM2, MIM: 216900<li>V->M at 529: in ACHM2, MIM: 216900<li>F->L at 547: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; is in large part located in the cell membrane at 37 and 27 degrees Celsius, MIM: 216900<li>G->R at 548: in ACHM2, MIM: 216900<li>G->R at 557: in ACHM2; the K, MIM: 216900<li>R->H at 563: in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced, MIM: 216900<li>T->M at 565: in ACHM2, MIM: 216900<li>R->H at 569: in ACHM2, MIM: 216900<li>Y->C at 573: in ACHM2, MIM: 216900<li>E->K at 590: in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration, MIM: 216900<li>E->K at 593: in ACHM2, MIM: 216900</ul>					<li>cell membrane</li><li>cell surface</li>	<li>GO:0005886</li><li>GO:0009928,GO:0009986</li>	<li>Q8MJD7</li><li>Q16281</li><li>Q29441</li><li>Q9NQW8</li>	Achromatopsia type 2 (ACHM2) [MIM:216900]	<li>rs2271041</li><li>rs34314205</li>	2
Q16288	4916	<ul><li>T->R at 149: in a gastric adenocarcinoma sample; somatic mutation<li>R->C at 306: in dbSNP:rs56386352<li>V->L at 307: in a lung adenocarcinoma sample; somatic mutation<li>L->Q at 336: in a lung adenocarcinoma sample; somatic mutation<li>A->S at 664: in a lung carcinoma sample; somatic mutation<li>H->Y at 677: in a lung adenocarcinoma sample; somatic mutation<li>R->Q at 678: in dbSNP rsrs55890138<li>R->F at 735: in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions<li>W->C at 736: in a lung carcinoma sample; somatic mutation<li>R->P at 745: in a lung carcinoma sample; somatic mutation<li>Y->F at 766: in a lung carcinoma sample; somatic mutation<li>K->R at 768: in dbSNP rsrs55770052<li>E->K at 781: in dbSNP rsrs56393451</ul>									<li>rs56386352</li><li>rs55770052</li><li>rs56393451</li><li>rs55890138</li>	2
Q16322	3744	<ul><li>R->H at 200: in a colorectal cancer sample; somatic mutation<li>V->M at 220: in dbSNP:rs34970857<li>S->N at 258: in dbSNP:rs3748729</ul>									<li>rs34970857</li><li>rs3748729</li>	2
Q16348		<ul><li>R->H at 57: in dbSNP:rs1920305<li>Y->C at 73: in dbSNP:rs1143667<li>L->F at 350: in dbSNP:rs2257212<li>P->S at 409: in dbSNP:rs1143671<li>R->K at 509: in dbSNP:rs1143672<li>A->G at 609: in dbSNP:rs1143668<li>A->P at 609: in dbSNP:rs1143673<li>M->L at 704: in dbSNP:rs1920314</ul>									<li>rs1920314</li><li>rs1143668</li><li>rs1143667</li><li>rs1143671</li><li>rs1143672</li><li>rs1143673</li><li>rs2257212</li><li>rs1920305</li>	2
Q16352	9118	<ul><li>T->S at 92: in dbSNP:rs1063455<li>E->Q at 110: in a breast cancer sample; somatic mutation<li>D->H at 149: in dbSNP:rs1063456</ul>									<li>rs1063456</li><li>rs1063455</li>	2
Q16363	3910	<ul><li>H->Y at 498: in dbSNP:rs1050348<li>S->G at 1117: in dbSNP:rs2032567<li>P->R at 1119: in dbSNP:rs1050349</ul>									<li>rs2032567</li><li>rs1050348</li><li>rs1050349</li>	2
Q16378	11272	<ul><li>R->Q at 96: in dbSNP:rs1063193<li>R->Q at 120: in dbSNP:rs1047699</ul>									<li>rs1063193</li><li>rs1047699</li>	2
Q16394	2131	<ul><li>Q->K at 27: in EXT1; no loss of activity, MIM: 133700<li>D->H at 164: in EXT1; loss of activity, MIM: 133700<li>MLAKASIS->I at 215-222: in isolated osteochondroma; somatic mutation, MIM: 133700<li>Missing  at 215-221: in EXT1, MIM: 133700<li>Missing  at 235-239: in multiple osteochondromas, MIM: 133700<li>R->G at 280: in EXT1; loss of activity, MIM: 133700<li>R->S at 280: in EXT1; loss of activity, MIM: 133700<li>N->S at 316: in chondrosarcoma; no loss of activity, MIM: 215300<li>G->D at 339: in EXT1; loss of activity, MIM: 133700<li>R->C at 340: in EXT1; loss of activity; still able to form an oligomeric complex, MIM: 133700<li>R->H at 340: in EXT1; loss of activity, MIM: 133700<li>R->L at 340: in EXT1; loss of activity, MIM: 133700<li>R->S at 340: in EXT1; loss of activity, MIM: 133700<li>A->V at 486: in EXT1; no loss of activity, MIM: 133700<li>P->L at 496: in EXT1; no loss of activity, MIM: 133700<li>Missing  at 627: in EXT1; loss of activity, MIM: 133700</ul>							<li>Q9JK82</li><li>Q16394</li><li>Q38913</li>	<li>Chondrosarcoma [MIM:215300]</li><li>Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]</li>		2
Q16401	5711	<ul><li>E->G at 21: in dbSNP:rs2297575<li>L->H at 72: in dbSNP:rs17282618</ul>									<li>rs2297575</li><li>rs17282618</li>	2
Q16445	2559	<ul><li>P->H at 180: in a colorectal cancer sample; somatic mutation<li>T->M at 187: in dbSNP:rs3811993<li>P->S at 404: in dbSNP:rs34907804</ul>									<li>rs3811993</li><li>rs34907804</li>	2
Q16478	2901	<ul><li>V->M at 527: in dbSNP:rs2230298</ul>									rs2230298	2
Q16512	5585	<ul><li>R->C at 185: in a metastatic melanoma sample; somatic mutation<li>A->E at 197<li>R->W at 436: in dbSNP rsrs35132656<li>R->Q at 520: in dbSNP rsrs56273055<li>L->I at 555: in dbSNP rsrs34309238<li>R->Q at 635: in dbSNP rsrs35416389<li>I->V at 718<li>F->L at 873: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>V->I at 901: in dbSNP:rs10846<li>A->V at 921: in a colorectal adenocarcinoma sample; somatic mutation</ul>									<li>rs34309238</li><li>rs56273055</li><li>rs35416389</li><li>rs35132656</li><li>rs10846</li>	2
Q16513	5586	<ul><li>E->D at 94: in dbSNP:rs12039846<li>A->E at 197: in dbSNP:rs35207128<li>Q->R at 655: in dbSNP:rs12085658</ul>									<li>rs12039846</li><li>rs12085658</li><li>rs35207128</li>	2
Q16515	40	<ul><li>D->G at 354: in dbSNP:rs16967895</ul>									rs16967895	2
Q16518	6121	<ul><li>L->P at 22: in LCA2, MIM: 204100<li>G->S at 40: in LCA2, MIM: 204100<li>R->Q at 44: in LCA2, MIM: 204100<li>H->Y at 68: in LCA2, MIM: 204100<li>R->Q at 91: in LCA2, MIM: 204100<li>R->W at 91: in RP20, MIM: 180069<li>A->T at 132: in RP20, MIM: 180069<li>Y->D at 144: in LCA2, MIM: 204100<li>H->Y at 182: in LCA2, MIM: 204100<li>V->F at 287: in LCA2, MIM: 204100<li>N->K at 321: in LCA2, MIM: 204100<li>L->S at 341: in RP20, MIM: 180069<li>P->T at 363: in LCA2, MIM: 204100<li>Y->H at 368: in RP20, MIM: 180069<li>A->G at 393: in LCA2, MIM: 204100<li>E->Q at 417: in LCA2, MIM: 204100<li>Y->C at 431: in LCA2, MIM: 204100<li>A->V at 434: in dbSNP:rs34627040, MIM: 204100<li>V->G at 452: in RP20, MIM: 180069<li>R->W at 515: in RP20; this mutation has been found in compound heterozygosity in LCA2, MIM: 180069</ul>								<li>Retinitis pigmentosa type 20 (RP20) [MIM:180069]</li><li>Leber congenital amaurosis type 2 (LCA2) [MIM:204100]</li>	rs34627040	2
Q16531	1642	<ul><li>L->F at 427: in dbSNP rsrs28720299</ul>									rs28720299	2
Q16534	3131	<ul><li>I->F at 253: in fusion protein; decreases DNA-binding activity</ul>			DNA-binding	GO:0003677						2
Q16538	27239	<ul><li>R->G at 459: in dbSNP:rs11612427</ul>									rs11612427	2
Q16539	1432	<ul><li>A->V at 51: in a gastric adenocarcinoma sample; somatic mutation<li>P->R at 322: in a lung adenocarcinoma sample; somatic mutation<li>D->G at 343: in dbSNP rsrs45496794</ul>									rs45496794	2
Q16543	11140	<ul><li>G->E at 360: in dbSNP:rs280528</ul>									rs280528	2
Q16548	597	<ul><li>C->Y at 19: in dbSNP:rs1138357<li>N->K at 39: in dbSNP:rs1138358<li>G->D at 82: in dbSNP:rs3826007<li>E->D at 117: in dbSNP:rs34080999</ul>									<li>rs1138358</li><li>rs34080999</li><li>rs3826007</li><li>rs1138357</li>	2
Q16549	9159	<ul><li>L->V at 688: in dbSNP:rs608620<li>S->N at 689: in dbSNP:rs45539233<li>R->M at 700: in dbSNP:rs45574931<li>H->Y at 708: in dbSNP:rs473131<li>R->Q at 711: in dbSNP:rs473093</ul>									<li>rs473093</li><li>rs608620</li><li>rs473131</li><li>rs45539233</li><li>rs45574931</li>	2
Q16555	1808	<ul><li>A->T at 118: in dbSNP:rs2289593<li>R->C at 481: in a colorectal cancer sample; somatic mutation</ul>									rs2289593	2
Q16557	5671	<ul><li>L->S at 23: in dbSNP:rs11559136<li>L->P at 30: in dbSNP:rs12185496<li>N->T at 198: in dbSNP:rs16976174<li>K->N at 199: in dbSNP:rs17173152</ul>									<li>rs17173152</li><li>rs12185496</li><li>rs16976174</li><li>rs11559136</li>	2
Q16558	3779	<ul><li>E->K at 65: has a protective effect against diastolic hypertension; dbSNP:rs11739136<li>V->L at 110: in dbSNP:rs2301149</ul>									<li>rs11739136</li><li>rs2301149</li>	2
Q16566	814	<ul><li>E->G at 150: in a lung adenocarcinoma sample; somatic mutation<li>D->N at 178: in dbSNP:rs35548075<li>Q->R at 465: in dbSNP rsrs56360861<li>I->M at 469: in a lung large cell carcinoma sample; somatic mutation</ul>									<li>rs56360861</li><li>rs35548075</li>	2
Q16568	9607	<ul><li>L->F at 61: in an obese patient<li>S->T at 66<li>L->M at 113: in dbSNP:rs12517689</ul>									rs12517689	2
Q16570	2532	<ul><li>G->D at 42: antigen Fy: in dbSNP rsrs12075<li>R->C at 89: antigen Fy: in dbSNP rsrs34599082<li>A->T at 100: in dbSNP:rs13962<li>L->Q at 203: in dbSNP:rs3027020<li>S->F at 326: in dbSNP:rs17851570</ul>									<li>rs17851570</li><li>rs3027020</li><li>rs34599082</li><li>rs12075</li><li>rs13962</li>	2
Q16572	6572	<ul><li>R->Q at 11: in dbSNP:rs8187732<li>A->P at 13: in dbSNP:rs8187733<li>R->W at 29: in dbSNP:rs8187734<li>E->A at 520: in dbSNP:rs8187730</ul>									<li>rs8187730</li><li>rs8187734</li><li>rs8187733</li><li>rs8187732</li>	2
Q16581	719	<ul><li>V->A at 136: in dbSNP:rs11567806</ul>									rs11567806	2
Q16584	4296	<ul><li>D->V at 151: in dbSNP:rs34178129<li>P->H at 252: in dbSNP:rs17855912<li>A->G at 282: in dbSNP:rs34594252</ul>									<li>rs34178129</li><li>rs17855912</li><li>rs34594252</li>	2
Q16585	6443	<ul><li>Q->E at 11: in DMD-like<li>R->C at 91: in LGMD2E, MIM: 604286<li>R->L at 91: in LGMD2E: in dbSNP rsrs28936384, MIM: 604286<li>R->P at 91: in LGMD2E: in dbSNP rsrs28936384, MIM: 604286<li>M->K at 100: in LGMD2E: in dbSNP rsrs28936386, MIM: 604286<li>L->R at 108: in LGMD2E, MIM: 604286<li>S->F at 114: in LGMD2E or DMD-like, MIM: 604286<li>I->F at 119: in LGMD2E, MIM: 604286<li>G->D at 139: in DMD-like, MIM: 604286<li>T->R at 151: in LGMD2E: in dbSNP rsrs28936383, MIM: 604286<li>G->S at 167: in LGMD2E, MIM: 604286<li>T->A at 182: in DMD-like, MIM: 604286<li>Y->C at 184: in DMD-like, MIM: 604286</ul>							<li>P11533</li><li>O97592</li><li>P11532</li><li>Q5GN48</li>	Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	<li>rs28936386</li><li>rs28936383</li><li>rs28936384</li>	2
Q16586	6442	<ul><li>P->L at 30: in LGMD2D, MIM: 608099<li>L->P at 31: in LGMD2D, MIM: 608099<li>R->C at 34: in LGMD2D, MIM: 608099<li>R->H at 34: in LGMD2D, MIM: 608099<li>Y->H at 62: in LGMD2D, MIM: 608099<li>G->E at 68: in LGMD2D, MIM: 608099<li>R->W at 74: in LGMD2D, MIM: 608099<li>R->C at 77: in LGMD2D; dbSNP:rs28933693, MIM: 608099<li>L->P at 89: in LGMD2D, MIM: 608099<li>G->R at 91: in LGMD2D, MIM: 608099<li>A->V at 93: in LGMD2D, MIM: 608099<li>D->G at 97: in LGMD2D, MIM: 608099<li>R->C at 98: in LGMD2D, MIM: 608099<li>R->H at 98: in LGMD2D, MIM: 608099<li>I->T at 103: in LGMD2D, MIM: 608099<li>I->T at 124: in LGMD2D, MIM: 608099<li>A->APGAQP at 136: in LGMD2D; associated with G-137, MIM: 608099<li>E->G at 137: in LGMD2D; associated with P-G-A-Q-P-136 ins; dbSNP:rs28933694, MIM: 608099<li>E->K at 137: in LGMD2D, MIM: 608099<li>L->F at 158: in LGMD2D, MIM: 608099<li>L->P at 173: in LGMD2D, MIM: 608099<li>V->A at 175: in LGMD2D, MIM: 608099<li>V->I at 196: in LGMD2D, MIM: 608099<li>P->H at 205: in LGMD2D, MIM: 608099<li>P->Q at 228: in LGMD2D, MIM: 608099<li>V->A at 242: in LGMD2D, MIM: 608099<li>V->M at 247: in LGMD2D, MIM: 608099<li>R->C at 284: in LGMD2D, MIM: 608099</ul>								Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	<li>rs28933693</li><li>rs28933694</li>	2
Q16587		<ul><li>E->K at 117<li>KL->NF at 622-623</ul>										2
Q16589	901	<ul><li>L->V at 4: in dbSNP:rs4150050<li>E->G at 28: in dbSNP:rs4150051</ul>									<li>rs4150051</li><li>rs4150050</li>	2
Q16594	6880	<ul><li>T->M at 6: in dbSNP:rs4252233<li>Q->H at 210: in dbSNP:rs11542580</ul>									<li>rs4252233</li><li>rs11542580</li>	2
Q16595	2395	<ul><li>L->S at 106: in FA, MIM: 229300<li>D->Y at 122: in FA, MIM: 229300<li>G->V at 130: in FA, MIM: 229300<li>I->F at 154: in FA; reduces interaction with LYRM4. Interaction is rescued by nickel, MIM: 229300<li>W->R at 155: in FA; reduces interaction with LYRM4. Interaction is rescued by nickel, MIM: 229300<li>R->C at 165: in FA; mild form, MIM: 229300<li>L->F at 182: in FA, MIM: 229300<li>L->R at 198: in FA, MIM: 229300<li>S->C at 202: in dbSNP:rs1052195, MIM: 229300</ul>							Q9HD34	Friedreich ataxia (FA) [MIM:229300]	rs1052195	2
Q16600	8187	<ul><li>G->A at 172: in dbSNP:rs2230660<li>G->C at 209: in dbSNP:rs2230661<li>D->E at 266: in dbSNP:rs1128865</ul>									<li>rs2230661</li><li>rs2230660</li><li>rs1128865</li>	2
Q16602	10203	<ul><li>N->Y at 8: in dbSNP:rs698577<li>F->L at 16: in dbSNP:rs13391909<li>R->I at 274: in dbSNP:rs34010553</ul>									<li>rs698577</li><li>rs34010553</li><li>rs13391909</li>	2
Q16609	80350	<ul><li>T->M at 91: in dbSNP:rs7749199</ul>									rs7749199	2
Q16610	1893	<ul><li>T->M at 130: in dbSNP:rs3737240<li>F->I at 167: in LiP, MIM: 247100<li>G->S at 415: in dbSNP:rs13294, MIM: 247100<li>G->R at 528: in dbSNP:rs1050901, MIM: 247100<li>S->F at 535: in dbSNP:rs1050904, MIM: 247100</ul>								Lipoid proteinosis (LiP) [MIM:247100]	<li>rs1050901</li><li>rs3737240</li><li>rs13294</li><li>rs1050904</li>	2
Q16611	578	<ul><li>A->V at 28: in dbSNP:rs4987115<li>R->H at 42: in dbSNP:rs1051911<li>S->R at 69: in dbSNP:rs5745592</ul>									<li>rs4987115</li><li>rs5745592</li><li>rs1051911</li>	2
Q16612	9315	<ul><li>E->G at 43: in dbSNP:rs11559</ul>									rs11559	2
Q16613	15	<ul><li>R->C at 15: in dbSNP:rs34470791<li>A->T at 129: in DSPS: in dbSNP rsrs28936679</ul>									<li>rs28936679</li><li>rs34470791</li>	2
Q16619	1489	<ul><li>A->T at 92: in dbSNP:rs2234933</ul>									rs2234933	2
Q16620	4915	<ul><li>L->F at 138: in a lung adenocarcinoma sample; somatic mutation<li>G->R at 309<li>N->Y at 338: in dbSNP:rs1047856<li>G->V at 545: in dbSNP:rs1075108<li>M->I at 697: in a lung carcinoma sample; somatic mutation<li>R->G at 699: in a lung carcinoma sample; somatic mutation<li>R->C at 718: in a lung carcinoma sample; somatic mutation</ul>									<li>rs1075108</li><li>rs1047856</li>	2
Q16627	6358	<ul><li>K->E at 61: in dbSNP:rs16971802</ul>									rs16971802	2
Q16633	5450	<ul><li>T->A at 141: in dbSNP rsrs1042750<li>Q->R at 194: in dbSNP rsrs1042751</ul>									<li>rs1042750</li><li>rs1042751</li>	2
Q16635	6901	<ul><li>R->S at 94: in MGA2, MIM: 302060<li>C->R at 118: in INVM, MIM: 302060<li>G->R at 197: in INVM, MIM: 302060</ul>							P40578	3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]		2
Q16637	6606	<ul><li>A->G at 2: in SMA2 and SMA3, MIM: 253400<li>D->N at 30: in SMA2, MIM: 253550<li>D->V at 44: in SMA3, MIM: 253400<li>G->R at 95: in SMA3; reduces SMN binding to Sm proteins, MIM: 253400<li>A->G at 111: in SMA2; reduces SMN binding to Sm proteins, MIM: 253550<li>I->F at 116: in SMA1, MIM: 253300<li>Q->E at 136: in SMA1, MIM: 253300<li>P->L at 245: in SMA3, MIM: 253400<li>S->G at 262: in SMA3, MIM: 253400<li>S->I at 262: in SMA3, MIM: 253400<li>Y->C at 272: in SMA1, MIM: 253300<li>T->I at 274: in SMA2 and SMA3, MIM: 253400<li>G->S at 275: in SMA3, MIM: 253400<li>G->C at 279: in SMA2 and SMA3, MIM: 253400<li>G->V at 279: in SMA1, MIM: 253300</ul>			binding	GO:0005488			<li>Q16637</li><li>O02771</li><li>Q15486</li><li>Q02651</li><li>O18870</li><li>P63162</li>	<li>Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]</li><li>Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]</li><li>Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]</li>		2
Q16643	1627	<ul><li>E->K at 278: in a breast cancer sample; somatic mutation<li>I->V at 446: in dbSNP:rs2544809<li>S->P at 553: in dbSNP:rs28538572<li>E->Q at 640: in a breast cancer sample; somatic mutation</ul>									<li>rs2544809</li><li>rs28538572</li>	2
Q16644	7867	<ul><li>P->S at 28: in a glioblastoma multiforme sample; somatic mutation<li>E->A at 105: in an ovarian endometrioid sample; somatic mutation<li>D->Y at 276: in dbSNP rsrs56107897</ul>									rs56107897	2
Q16647	5740	<ul><li>P->L at 38: in allele CYP8A1*2<li>S->R at 118: in allele CYP8A1*3; dbSNP:rs5622<li>E->A at 154: in dbSNP:rs5623<li>F->L at 171: in dbSNP:rs5624<li>R->C at 236: in dbSNP:rs5626<li>R->S at 379: in allele CYP8A1*4: in dbSNP rsrs56195291<li>P->S at 500: in dbSNP:rs5584</ul>							Q16647		<li>rs56195291</li><li>rs5623</li><li>rs5622</li><li>rs5584</li><li>rs5624</li><li>rs5626</li>	2
Q16650	10716	<ul><li>H->Q at 289: in dbSNP:rs12994035</ul>									rs12994035	2
Q16654	5166	<ul><li>A->V at 17: in dbSNP rsrs56391840<li>L->M at 19: in dbSNP rsrs55761955<li>D->G at 109: in dbSNP:rs34898343</ul>									<li>rs34898343</li><li>rs55761955</li><li>rs56391840</li>	2
Q16659	5597	<ul><li>L->V at 290</ul>										2
Q16661	2981	<ul><li>P->T at 11: in dbSNP:rs2297567</ul>									rs2297567	2
Q16663	6359	<ul><li>I->T at 24: in dbSNP:rs854625</ul>									rs854625	2
Q16665	3091	<ul><li>P->S at 582: in dbSNP:rs11549465<li>A->T at 588: in dbSNP:rs11549467<li>T->A at 796: in dbSNP:rs1802821</ul>									<li>rs11549465</li><li>rs11549467</li><li>rs1802821</li>	2
Q16666	3428	<ul><li>D->H at 103: in dbSNP:rs1057018<li>S->T at 179: in dbSNP:rs866484<li>K->E at 202: in dbSNP:rs11585341<li>R->S at 409: in dbSNP:rs1057027<li>Y->N at 413: in dbSNP:rs1057028<li>T->S at 723: in dbSNP:rs6940</ul>									<li>rs11585341</li><li>rs866484</li><li>rs6940</li><li>rs1057027</li><li>rs1057028</li><li>rs1057018</li>	2
Q16667	1033	<ul><li>W->R at 31: in HCC; patient BX-01, MIM: 114550<li>F->L at 78: in HCC; patient T9, MIM: 114550<li>C->Y at 79: in HCC; patient BX-01, MIM: 114550<li>N->K at 91: in HCC; patient BX-10, MIM: 114550<li>D->V at 94: in HCC; patient NT1, MIM: 114550<li>L->F at 95: in HCC; patient BX-05, MIM: 114550<li>I->V at 108: in HCC; patient T9, MIM: 114550<li>S->F at 159: in dbSNP:rs1803843, MIM: 114550<li>N->S at 187: in HCC; patient NT4, MIM: 114550<li>K->I at 195: in HCC; patient NT4, MIM: 114550</ul>							<li>P24727</li><li>P34131</li><li>P34130</li><li>P25436</li><li>Q8T115</li><li>P60771</li><li>Q9NFL6</li>	Patients with hepatocellular carcinoma (HCC) [MIM:114550]	rs1803843	2
Q16670	7741	<ul><li>R->S at 220: in dbSNP:rs17851075</ul>									rs17851075	2
Q16671	269	<ul><li>R->C at 54: in PMDS-2, MIM: 261550<li>G->V at 142: in PMDS-2, MIM: 261550<li>H->Q at 282: in PMDS-2, MIM: 261550<li>R->Q at 406: in PMDS-2, MIM: 261550<li>D->G at 426: in PMDS-2, MIM: 261550<li>Missing  at 444-452: in PMDS-2, MIM: 261550<li>V->A at 458: in PMDS-2, MIM: 261550<li>D->H at 491: in PMDS-2, MIM: 261550<li>R->C at 504: in PMDS-2, MIM: 261550</ul>								Persistent Muellerian duct syndrome type 2 (PMDS-2) [MIM:261550]		2
Q16678	1545	<ul><li>S->W at 28: in POAG, MIM: 137760<li>R->G at 48: in allele CYP1B1*2, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; dbSNP:rs10012, MIM: 137760<li>P->L at 52, MIM: 137760<li>W->C at 57: in POAG; juvenile onset; allele CYP1B1*11, MIM: 137760<li>G->E at 61: in GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700, MIM: 137760<li>Q->R at 68: in dbSNP:rs9282670, MIM: 137760<li>L->P at 77: in GLC3A, MIM: 231300<li>Y->N at 81: in POAG; adult-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs9282671, MIM: 137760<li>A->P at 115: in GLC3A, MIM: 231300<li>A->S at 119: in allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827, MIM: 231300<li>M->R at 132: in GLC3A, MIM: 231300<li>Q->H at 144, MIM: 231300<li>Q->P at 144: in GLC3A, MIM: 231300<li>Q->R at 144: in GLC3A, MIM: 231300<li>R->W at 145: in POAG, MIM: 137760<li>G->S at 184, MIM: 137760<li>A->P at 189: associated with ocular hypertension susceptibility, MIM: 137760<li>D->V at 192: in GLC3A, MIM: 231300<li>P->L at 193: in GLC3A, MIM: 231300<li>V->I at 198: in GLC3A; dbSNP:rs59472972, MIM: 231300<li>N->S at 203: in GLC3A; reduces enzymatic activity, MIM: 231300<li>S->N at 206: in dbSNP:rs9341248, MIM: 231300<li>S->I at 215: in GLC3A, MIM: 231300<li>E->K at 229: in GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060, MIM: 137760<li>G->R at 232: in GLC3A and POAG; adult-onset, MIM: 137760<li>S->R at 239: in GLC3A, MIM: 231300<li>R->L at 266: in dbSNP:rs9341250, MIM: 231300<li>Missing  at 269-271: in GLC3A and POAG, MIM: 231300<li>V->L at 320: in GLC3A, MIM: 231300<li>A->F at 330: in GLC3A; requires 2 nucleotide substitutions; uncertain pathogenicity, MIM: 231300<li>A->S at 330: associated with ocular hypertension susceptibility, MIM: 231300<li>Missing  at 343: in GLC3A; reduces enzymatic activity and also the abundance of the enzyme, MIM: 231300<li>L->F at 345: in POAG, MIM: 137760<li>Missing  at 355-358: in GLC3A, MIM: 137760<li>V->M at 364: in GLC3A, MIM: 231300<li>G->W at 365: in GLC3A; allele CYP1B1*18; dbSNP:rs55771538, MIM: 231300<li>R->H at 368: in GLC3A and glaucoma; digenic early-onset; this mutation may act as a modifier of MYOC mutant phenotype: in dbSNP rsrs28936414, MIM: 231300<li>D->N at 374: in GLC3A: in dbSNP rsrs28936413, MIM: 231300<li>P->L at 379: in allele CYP1B1*19; dbSNP:rs56305281, MIM: 231300<li>E->K at 387: in GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760, MIM: 137760<li>A->T at 388: in GLC3A, MIM: 231300<li>R->C at 390: in GLC3A, MIM: 231300<li>R->H at 390: in GLC3A; allele CYP1B1*21: in dbSNP rsrs56010818, MIM: 231300<li>R->S at 390: in GLC3A, MIM: 231300<li>I->S at 399: in GLC3A, MIM: 231300<li>V->F at 409: in POAG, MIM: 137760<li>V->G at 422, MIM: 137760<li>N->Y at 423: in GLC3A and POAG; juvenile-onset, MIM: 137760<li>L->V at 432: in allele CYP1B1*3, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; 1.6-fold increase in 17beta-estradiol 4-hydroxylation activity but no change in 17beta-estradiol 2-hydroxylation activity; 2-fold reduction in testosterone 6beta-hydroxylation activity and 3-fold reduction in testosterone affinity; 6-fold and 4-fold increase in progesterone 6beta- and 16alpha-hydroxylation activity, respectively and 7-fold reduction in progesterone affinity; dbSNP:rs1056836, MIM: 137760<li>P->L at 437: in GLC3A; allele CYP1B1*23; dbSNP:rs56175199, MIM: 231300<li>D->H at 441: in dbSNP:rs4986887, MIM: 231300<li>A->G at 443: in GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888, MIM: 137760<li>R->Q at 444: in GLC3A, MIM: 231300<li>F->C at 445: in GLC3A, MIM: 231300<li>D->E at 449: in dbSNP:rs1056837, MIM: 231300<li>N->S at 453: in allele CYP1B1*4; dbSNP:rs1800440, MIM: 231300<li>G->D at 466: in GLC3A, MIM: 231300<li>R->W at 469: in GLC3A; allele CYP1B1*25; dbSNP:rs28936701, MIM: 231300<li>E->G at 499: in GLC3A, MIM: 231300<li>S->L at 515: in POAG; uncertain pathogenicity, MIM: 137760<li>V->A at 518, MIM: 137760<li>R->T at 523: in POAG; juvenile-onset, MIM: 137760<li>D->G at 530: in POAG, MIM: 137760</ul>							<li>Q99972</li><li>Q2PT31</li><li>Q9XTA3</li><li>Q863A3</li><li>Q866N2</li><li>Q16678</li><li>Q594P2</li>	<li>Primary open angle glaucoma (POAG) [MIM:137760]</li><li>Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]</li>	<li>rs59472972</li><li>rs56305281</li><li>rs28936414</li><li>rs28936413</li><li>rs56175199</li><li>rs57865060</li><li>rs9282671</li><li>rs9282670</li><li>rs1800440</li><li>rs55771538</li><li>rs9341250</li><li>rs1056827</li><li>rs4986888</li><li>rs55989760</li><li>rs1056836</li><li>rs1056837</li><li>rs56010818</li><li>rs28936701</li><li>rs4986887</li><li>rs10012</li><li>rs28936700</li><li>rs9341248</li>	2
Q16690	1847	<ul><li>E->D at 154: in dbSNP:rs2282238<li>P->L at 322: in dbSNP:rs35101549</ul>									<li>rs35101549</li><li>rs2282238</li>	2
Q16696	1553	<ul><li>R->Q at 25: in allele CYP2A13*2: in dbSNP rsrs8192784<li>R->Q at 101: in allele CYP2A13*4<li>T->TT at 134: in allele CYP2A13*3<li>D->E at 158: in allele CYP2A13*3 and allele CYP2A13*8<li>R->C at 257: in allele CYP2A13*2; dbSNP:rs8192789<li>V->L at 323: in allele CYP2A13*9<li>F->Y at 453: in allele CYP2A13*5<li>R->C at 494: in allele CYP2A13*6</ul>							Q16696		<li>rs8192784</li><li>rs8192789</li>	2
Q16698	1666	<ul><li>K->N at 333: in dbSNP:rs15094</ul>									rs15094	2
Q16719	8942	<ul><li>R->Q at 188: in dbSNP:rs2304705<li>T->A at 198: in hydroxykynureninuria, MIM: 236800<li>K->E at 412: in dbSNP:rs9013, MIM: 236800</ul>								Hydroxykynureninuria [MIM:236800]	<li>rs9013</li><li>rs2304705</li>	2
Q16720	492	<ul><li>I->M at 198: in dbSNP:rs2269409</ul>									rs2269409	2
Q16762	7263	<ul><li>E->D at 102: in dbSNP:rs35156365<li>E->G at 228: in dbSNP:rs1049270</ul>									<li>rs1049270</li><li>rs35156365</li>	2
Q16769	25797	<ul><li>R->W at 54: in dbSNP:rs2255991<li>Q->R at 71<li>H->P at 360: in dbSNP:rs4670696</ul>									<li>rs2255991</li><li>rs4670696</li>	2
Q16772	2940	<ul><li>I->L at 71: in dbSNP:rs1052661<li>N->D at 73: in dbSNP:rs41273858</ul>									<li>rs41273858</li><li>rs1052661</li>	2
Q16787	3909	<ul><li>T->N at 796: in dbSNP:rs17187262<li>V->A at 1206: in dbSNP:rs12457323<li>P->T at 1208: in dbSNP:rs17202961<li>T->A at 2702: in dbSNP:rs9952370<li>N->K at 2815: in dbSNP:rs1154232</ul>									<li>rs17202961</li><li>rs1154232</li><li>rs9952370</li><li>rs17187262</li><li>rs12457323</li>	2
Q16790	768	<ul><li>V->M at 33: in dbSNP:rs2071676<li>Q->R at 326: in dbSNP:rs3829078</ul>									<li>rs3829078</li><li>rs2071676</li>	2
Q16798	10873	<ul><li>S->G at 85: in dbSNP:rs17856661<li>K->N at 324: in dbSNP:rs1042780</ul>									<li>rs17856661</li><li>rs1042780</li>	2
Q16799	6252	<ul><li>G->E at 247: in dbSNP:rs35645652<li>I->V at 357: in dbSNP:rs35707243</ul>									<li>rs35707243</li><li>rs35645652</li>	2
Q16816	5260	<ul><li>V->M at 48: in a colorectal adenocarcinoma sample; somatic mutation<li>R->C at 323</ul>										2
Q16819	4224	<ul><li>V->L at 469: in dbSNP:rs2274658<li>R->G at 476: in dbSNP:rs12197930<li>T->S at 606: in dbSNP:rs2297020<li>M->V at 634: in dbSNP:rs2297019<li>T->M at 726: in dbSNP:rs1804211</ul>									<li>rs2274658</li><li>rs1804211</li><li>rs12197930</li><li>rs2297019</li><li>rs2297020</li>	2
Q16821	5506	<ul><li>G->S at 45: in dbSNP:rs8192687<li>C->Y at 231: in dbSNP:rs7801819<li>M->V at 451: in dbSNP:rs2974942<li>K->N at 476: in dbSNP:rs2974944<li>G->A at 554: in a breast cancer sample; somatic mutation<li>E->K at 748: in dbSNP:rs4304271<li>H->L at 882: in dbSNP:rs2974938<li>R->S at 883: in dbSNP:rs1800000<li>D->Y at 905: in insulin resistance; dbSNP:rs1799999<li>A->E at 931: in NIDDM: in dbSNP rsrs35449651, MIM: 125853</ul>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>	Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs2974942</li><li>rs8192687</li><li>rs2974944</li><li>rs35449651</li><li>rs1799999</li><li>rs2974938</li><li>rs4304271</li><li>rs1800000</li><li>rs7801819</li>	2
Q16822	5106	<ul><li>R->Q at 31: in dbSNP:rs2229660<li>D->N at 64: in dbSNP:rs10132601<li>G->S at 406: in dbSNP:rs17101262</ul>									<li>rs2229660</li><li>rs17101262</li><li>rs10132601</li>	2
Q16828	1848	<ul><li>V->L at 114: in dbSNP:rs2279574<li>S->A at 144: in dbSNP:rs770087<li>N->I at 313: in dbSNP:rs12828557</ul>									<li>rs12828557</li><li>rs770087</li><li>rs2279574</li>	2
Q16829	1849	<ul><li>S->N at 184: in dbSNP:rs34821455</ul>									rs34821455	2
Q16832	4921	<ul><li>R->S at 105: in a lung large cell carcinoma sample; somatic mutation<li>M->I at 441: in dbSNP:rs34722354<li>R->C at 478: in dbSNP:rs34869543<li>V->F at 543: in dbSNP:rs55973200</ul>									<li>rs55973200</li><li>rs34869543</li><li>rs34722354</li>	2
Q16836	3033	<ul><li>A->T at 40: in HADH deficiency, MIM: 231530<li>D->E at 57: in HADH deficiency, MIM: 231530<li>P->L at 86: in dbSNP:rs4956145, MIM: 231530<li>P->L at 258: in HHF4; loss of activity, MIM: 609975</ul>							<li>P00348</li><li>P40939</li><li>Q16836</li>	<li>3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]</li><li>Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]</li>	rs4956145	2
Q16849	5798	<ul><li>S->R at 419: in dbSNP:rs35314717</ul>									rs35314717	2
Q16850	1595	<ul><li>V->A at 13: in dbSNP:rs2229188</ul>									rs2229188	2
Q16851	7360	<ul><li>M->I at 268: in dbSNP:rs1130982</ul>									rs1130982	2
Q16853	8639	<ul><li>T->R at 5: in dbSNP:rs33954211<li>R->Q at 78: in dbSNP:rs402680<li>H->Y at 167: in dbSNP:rs2228470<li>V->M at 171: in dbSNP:rs408038<li>H->R at 203: in dbSNP:rs630079<li>Y->H at 317: in dbSNP:rs438287<li>R->Q at 329: in dbSNP:rs2229595<li>I->T at 371: in dbSNP:rs35097308<li>A->S at 408: in dbSNP rsrs35643019<li>R->H at 426: in dbSNP:rs33986943<li>R->W at 441: in dbSNP:rs2229596<li>A->T at 582: in dbSNP rsrs34987927<li>G->S at 700: in dbSNP:rs477207<li>A->V at 749: in dbSNP rsrs34012919</ul>									<li>rs2229596</li><li>rs477207</li><li>rs35097308</li><li>rs33986943</li><li>rs2229595</li><li>rs34012919</li><li>rs408038</li><li>rs34987927</li><li>rs33954211</li><li>rs438287</li><li>rs35643019</li><li>rs630079</li><li>rs402680</li><li>rs2228470</li>	2
Q16854	1716	<ul><li>R->K at 142: in MDS, MIM: 251880<li>E->K at 227: in MDS, MIM: 251880<li>L->S at 250: in MDS; significant reduction of activity, MIM: 251880</ul>								Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]		2
Q16864	9296	<ul><li>G->V at 24: in dbSNP:rs10958</ul>									rs10958	2
Q16873	4056	<ul><li>R->Q at 142: in dbSNP:rs11541078</ul>									rs11541078	2
Q16877	5210	<ul><li>N->K at 181: in a breast cancer sample; somatic mutation</ul>										2
Q16878	1036	<ul><li>T->I at 45: in dbSNP:rs1042867<li>E->Q at 143: in a colorectal cancer sample; somatic mutation</ul>									rs1042867	2
Q16880	7368	<ul><li>P->L at 226: in dbSNP:rs4148254<li>M->I at 368: in dbSNP:rs11098261</ul>									<li>rs4148254</li><li>rs11098261</li>	2
Q16881	7296	<ul><li>D->G at 365: in dbSNP:rs1127954</ul>									rs1127954	2
Q16890	7164	<ul><li>R->K at 62: in dbSNP:rs6905231</ul>									rs6905231	2
Q16891	10989	<ul><li>P->S at 124: in dbSNP:rs6750289<li>A->V at 294: in dbSNP:rs35233009</ul>									<li>rs35233009</li><li>rs6750289</li>	2
Q17R55	148109	<ul><li>P->S at 3: in dbSNP:rs34873156<li>C->R at 160: in dbSNP:rs565791<li>V->I at 216: in dbSNP:rs564117</ul>									<li>rs565791</li><li>rs34873156</li><li>rs564117</li>	2
Q17R60	3617	<ul><li>G->V at 463: in dbSNP:rs9443201<li>H->D at 518: in dbSNP:rs3734311<li>K->R at 569: in dbSNP:rs3734312<li>R->W at 704: in dbSNP:rs10943299<li>R->H at 711: in dbSNP:rs3734313<li>S->N at 761: in dbSNP:rs3778005</ul>									<li>rs3734311</li><li>rs3734312</li><li>rs3734313</li><li>rs9443201</li><li>rs3778005</li><li>rs10943299</li>	2
Q17R89	9912	<ul><li>V->M at 463: in dbSNP:rs3213688</ul>									rs3213688	2
Q17RC7	91828	<ul><li>R->W at 77: in dbSNP:rs2297067<li>D->E at 93: in dbSNP:rs2297066<li>L->H at 185: in dbSNP:rs10131298<li>R->Q at 675: in dbSNP:rs729184</ul>									<li>rs10131298</li><li>rs729184</li><li>rs2297067</li><li>rs2297066</li>	2
Q17RD7	83851	<ul><li>A->V at 10: in dbSNP:rs8019076<li>R->L at 131: in dbSNP:rs17099370</ul>									<li>rs8019076</li><li>rs17099370</li>	2
Q17RF5	152816	<ul><li>P->L at 30: in dbSNP:rs2306175<li>R->H at 109: in dbSNP:rs2306174</ul>									<li>rs2306175</li><li>rs2306174</li>	2
Q17RG1	146212	<ul><li>E->K at 750: in dbSNP:rs16957289</ul>									rs16957289	2
Q17RM4	84865	<ul><li>R->Q at 534: in dbSNP:rs13385919</ul>									rs13385919	2
Q17RN3	147965	<ul><li>T->K at 240: in dbSNP:rs3745962</ul>									rs3745962	2
Q17RP2	81789	<ul><li>R->W at 59: in dbSNP:rs9324636<li>Q->R at 327: in dbSNP:rs10875553</ul>									<li>rs10875553</li><li>rs9324636</li>	2
Q17RQ9	284353	<ul><li>V->L at 118: in dbSNP:rs3810144</ul>									rs3810144	2
Q17RR3	119548	<ul><li>L->F at 2: in dbSNP:rs10885929<li>F->L at 332: in dbSNP:rs7077408<li>F->Y at 450: in dbSNP:rs2116286</ul>									<li>rs7077408</li><li>rs2116286</li><li>rs10885929</li>	2
Q17RS7	348654	<ul><li>T->S at 92: in dbSNP:rs1812152<li>N->S at 143: in dbSNP:rs16981869<li>I->V at 203: in dbSNP:rs10177628<li>R->L at 275: in a breast cancer sample; somatic mutation<li>N->S at 310: in dbSNP:rs300175<li>I->T at 680: in dbSNP:rs300169<li>R->C at 898: in dbSNP:rs17315702</ul>									<li>rs300175</li><li>rs10177628</li><li>rs1812152</li><li>rs17315702</li><li>rs300169</li><li>rs16981869</li>	2
Q17RW2	255631	<ul><li>G->R at 1423: in dbSNP:rs7520146</ul>									rs7520146	2
Q18PE1	285489	<ul><li>R->Q at 158: in dbSNP:rs6811423<li>G->A at 180: in LGM, MIM: 254300<li>D->N at 197: in dbSNP:rs16844422, MIM: 254300<li>R->H at 261: in dbSNP:rs16844460, MIM: 254300<li>Q->R at 296: in dbSNP:rs6811423, MIM: 254300<li>G->R at 379: in dbSNP:rs6831659, MIM: 254300<li>P->S at 415: in dbSNP:rs16844464, MIM: 254300<li>G->D at 427: in dbSNP:rs2020433, MIM: 254300<li>R->W at 451: in dbSNP:rs16844470, MIM: 254300<li>G->D at 461: in dbSNP:rs9684786, MIM: 254300</ul>								Familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]	<li>rs9684786</li><li>rs6831659</li><li>rs16844464</li><li>rs16844460</li><li>rs2020433</li><li>rs6811423</li><li>rs16844422</li><li>rs16844470</li>	2
Q1AE95	653659	<ul><li>M->V at 193: in dbSNP:rs7630407</ul>									rs7630407	2
Q1ED39	400506	<ul><li>A->V at 266: in dbSNP:rs2074036</ul>									rs2074036	2
Q1EHB4	159963	<ul><li>V->L at 510: in dbSNP:rs12278761</ul>									rs12278761	2
Q1HG43	90527	<ul><li>S->G at 313: in dbSNP:rs16977686</ul>									rs16977686	2
Q1HG44	405753	<ul><li>R->G at 100: in dbSNP:rs2576090</ul>									rs2576090	2
Q1L5Z9	164832	<ul><li>L->P at 183: in dbSNP:rs4851287<li>P->L at 426: in dbSNP:rs4851287<li>R->W at 562: in a colorectal cancer sample; somatic mutation</ul>									rs4851287	2
Q1L6U9	692094	<ul><li>G->V at 116: in dbSNP:rs3750436</ul>									rs3750436	2
Q1MSJ5	79848	<ul><li>R->H at 872: in dbSNP:rs16933182<li>W->R at 1100: in dbSNP:rs1808140</ul>									<li>rs1808140</li><li>rs16933182</li>	2
Q1MX18	387755	<ul><li>D->N at 333: in dbSNP:rs17507577<li>Q->R at 450: in dbSNP:rs7123855</ul>									<li>rs7123855</li><li>rs17507577</li>	2
Q1X8D7	55282	<ul><li>R->P at 222: in dbSNP:rs9922085<li>G->S at 509: in dbSNP:rs8052655<li>S->G at 744: in dbSNP:rs16957415</ul>									<li>rs16957415</li><li>rs8052655</li><li>rs9922085</li>	2
Q1ZYL8	113177	<ul><li>A->T at 2: in dbSNP:rs17851210<li>F->L at 38: in dbSNP:rs35585208</ul>									<li>rs35585208</li><li>rs17851210</li>	2
Q24JP5	54972	<ul><li>R->H at 699: in dbSNP:rs524523<li>A->V at 969: in dbSNP:rs2469887</ul>									<li>rs524523</li><li>rs2469887</li>	2
Q24JQ0	85019	<ul><li>L->F at 131: in dbSNP:rs8099409</ul>									rs8099409	2
Q27J81	64423	<ul><li>P->S at 1096: in dbSNP:rs34251364<li>T->M at 1135: in dbSNP:rs3803311</ul>									<li>rs3803311</li><li>rs34251364</li>	2
Q29718		<ul><li>D->G at 186: in allele B*8202</ul>										2
Q29836		<ul><li>E->G at 69: in allele B*6702<li>I->V at 76: in allele B*6702<li>N->E at 87: in allele B*6702; requires 2 nucleotide substitutions<li>I->K at 90: in allele B*6702<li>A->R at 93: in allele B*6702; requires 2 nucleotide substitutions<li>T->A at 97: in allele B*6702<li>E->V at 100: in allele B*6702</ul>										2
Q29865		<ul><li>V->A at 319: in allele Cw*1802</ul>										2
Q29960		<ul><li>S->N at 101: in allele Cw*1602<li>N->K at 104: in allele Cw*1602<li>H->D at 153: in allele Cw*1602 and allele Cw*1604<li>C->W at 157: in allele Cw*1602 and allele Cw*1604<li>Q->W at 180: in allele Cw*1604; requires 2 nucleotide substitutions</ul>										2
Q29963		<ul><li>D->Y at 33: in allele Cw*0603<li>W->L at 180: in allele Cw*0604</ul>										2
Q29980	4277	<ul><li>E->G at 39: in allele MICB*002, allele MICB*003, allele MICB*004, allele MICB*005, allele MICB*006, allele MICB*007, allele MICB*008, allele MICB*010, allele MICB*011, allele MICB*012, allele MICB*013, allele MICB*014, allele MICB*015, allele MICB*016, allele MICB*018, allele MICB*019, allele MICB*020 and allele MICB*022; dbSNP:rs45578846<li>P->H at 68: in allele MICB*011; dbSNP:rs45583740<li>D->N at 75: in allele MICB*004 and allele MICB*020; dbSNP:rs3131639<li>K->E at 80: in allele MICB*002, allele MICB*007, allele MICB*008, allele MICB*014, allele MICB*015, allele MICB*016, allele MICB*019 and allele MICB*022; dbSNP:rs1065075<li>D->G at 88: in allele MICB*022; dbSNP:rs45486091<li>D->G at 105: in allele MICB*012; dbSNP:rs45502297<li>I->M at 121: in allele MICB*008; dbSNP:rs3134900<li>D->N at 136: in allele MICB*002, allele MICB*007, allele MICB*008, allele MICB*014, allele MICB*015, allele MICB*018, allele MICB*020 and allele MICB*022; dbSNP:rs1051788<li>T->I at 212: in allele MICB*003; dbSNP:rs41293883<li>E->K at 215: in allele MICB*006 and allele MICB*015; dbSNP:rs45624537<li>R->K at 279: in allele MICB*007; dbSNP:rs45587032<li>G->S at 291: in allele MICB*013, allele MICB*014, allele MICB*015 and allele MICB*016; dbSNP:rs41273040<li>V->A at 300: in allele MICB*002, allele MICB*003, allele MICB*004, allele MICB*005, allele MICB*006, allele MICB*007, allele MICB*008, allele MICB*010, allele MICB*011, allele MICB*012, allele MICB*013, allele MICB*014 and allele MICB*015; dbSNP:rs45470602<li>A->T at 383: in allele MICB*003, allele MICB*004, allele MICB*010 and allele MICB*011; dbSNP:rs1065076</ul>									<li>rs45502297</li><li>rs45486091</li><li>rs41293883</li><li>rs3134900</li><li>rs45578846</li><li>rs1065076</li><li>rs41273040</li><li>rs45587032</li><li>rs1065075</li><li>rs45583740</li><li>rs45470602</li><li>rs45624537</li><li>rs3131639</li><li>rs1051788</li>	2
Q29983	4276	<ul><li>R->P at 29: in allele MICA*010, allele MICA*025 and allele MICA*054; abolishes cell surface expression, probably by interfering with protein folding; dbSNP:rs9380254<li>W->G at 37: in allele MICA*002, allele MICA*011, allele MICA*013, allele MICA*014, allele MICA*015, allele MICA*017, allele MICA*020, allele MICA*022, allele MICA*023, allele MICA*030, allele MICA*034, allele MICA*035, allele MICA*036, allele MICA*041, allele MICA*044, allele MICA*046, allele MICA*047, allele MICA*052, allele MICA*053 and allele MICA*055; dbSNP:rs1063630<li>T->A at 47: in allele MICA*002, allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*007, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*011, allele MICA*013, allele MICA*014, allele MICA*015, allele MICA*016, allele MICA*017, allele MICA*019, allele MICA*020, allele MICA*022, allele MICA*023, allele MICA*024, allele MICA*025, allele MICA*026, allele MICA*027, allele MICA*028, allele MICA*029, allele MICA*030, allele MICA*031, allele MICA*032, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*036, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*040, allele MICA*041, allele MICA*042, allele MICA*043, allele MICA*044, allele MICA*045, allele MICA*046, allele MICA*047, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*052, allele MICA*053, allele MICA*054, allele MICA*055 and allele MICA*056; dbSNP:rs1051785<li>V->G at 49: in allele MICA*041; dbSNP:rs17200158<li>C->Y at 59: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*024, allele MICA*025, allele MICA*027, allele MICA*028, allele MICA*031, allele MICA*032, allele MICA*033, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*054 and allele MICA*056; dbSNP:rs1051786<li>Q->R at 114: in allele MICA*017; dbSNP:rs41558312<li>R->K at 128: in allele MICA*036; dbSNP:rs41557113<li>G->R at 137: in allele MICA*014 and allele MICA*015; dbSNP:rs41556715<li>L->V at 145: in allele MICA*004, allele MICA*006, allele MICA*009, allele MICA*044 and allele MICA*049; dbSNP:rs1051790<li>T->S at 147: in allele MICA*033; dbSNP:rs41539919<li>K->E at 148: in allele MICA*002, allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*007, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*011, allele MICA*012, allele MICA*013, allele MICA*014, allele MICA*015, allele MICA*016, allele MICA*017, allele MICA*018, allele MICA*019, allele MICA*020, allele MICA*022, allele MICA*023, allele MICA*024, allele MICA*025, allele MICA*026, allele MICA*027, allele MICA*028, allele MICA*029, allele MICA*030, allele MICA*032, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*036, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*041, allele MICA*042, allele MICA*043, allele MICA*044, allele MICA*045, allele MICA*046, allele MICA*047, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*052, allele MICA*053, allele MICA*054, allele MICA*055 and allele MICA*056; dbSNP:rs1051791<li>M->V at 152: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*013, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*028, allele MICA*033, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; reduces binding affinity for KLRK1; dbSNP:rs1051792<li>V->I at 165: in allele MICA*029; dbSNP:rs3819269<li>M->V at 174: in allele MICA*011 and allele MICA*034; dbSNP:rs41560824<li>H->L at 179: in allele MICA*012, allele MICA*032 and allele MICA*043; dbSNP:rs3819268<li>K->E at 196: in allele MICA*004, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*013, allele MICA*014, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*028, allele MICA*033, allele MICA*036, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1051794<li>G->S at 198: in allele MICA*004, allele MICA*006, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*031, allele MICA*033, allele MICA*036, allele MICA*044, allele MICA*049, allele MICA*054 and allele MICA*056; dbSNP:rs1131896<li>V->I at 199: in allele MICA*006; dbSNP:rs41549718<li>T->R at 204: in allele MICA*004, allele MICA*014, allele MICA*032 and allele MICA*044; dbSNP:rs1131897<li>G->S at 229: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1131898<li>Y->C at 231: in allele MICA*046; dbSNP:rs41546915<li>W->R at 233: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1051798<li>T->I at 236: in allele MICA*008, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*027, allele MICA*033, allele MICA*035, allele MICA*037, allele MICA*039, allele MICA*042, allele MICA*048, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1140700<li>S->T at 238: in allele MICA*004, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1051799<li>V->L at 244: in allele MICA*016 and allele MICA*039; dbSNP:rs41540613<li>W->S at 253: in allele MICA*056<li>Q->R at 274: in allele MICA*005, allele MICA*008, allele MICA*010, allele MICA*013, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*027, allele MICA*033, allele MICA*035, allele MICA*037, allele MICA*039, allele MICA*042, allele MICA*045, allele MICA*048, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1063635<li>R->S at 279: in allele MICA*043; dbSNP:rs41557614<li>S->G at 291: in allele MICA*054<li>P->A at 294: in allele MICA*011, allele MICA*030 and allele MICA*047; dbSNP:rs41553616<li>VLVLQSHWQTFHVSA at 300-383: in allele MICA*015 and allele MICA*017<li>AAIFVIIIFYVRCCK at 318-383: in allele MICA*008, allele MICA*023, allele MICA*028 and allele MICA*053<li>A->AA at 319: in allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*027, allele MICA*033, allele MICA*048, allele MICA*054 and allele MICA*056<li>A->AAA at 319: in allele MICA*004, allele MICA*006, allele MICA*009, allele MICA*011, allele MICA*026, allele MICA*047 and allele MICA*049<li>A->AAAA at 319: in allele MICA*050<li>A->AAAAA at 319: in allele MICA*055<li>A->AAAAAA at 319: in allele MICA*002, allele MICA*041, allele MICA*046 and allele MICA*052<li>A->AAAAAAA at 319: in allele MICA*020<li>V->I at 328: in allele MICA*052<li>R->C at 329: in allele MICA*002, allele MICA*011, allele MICA*020, allele MICA*041, allele MICA*043, allele MICA*046, allele MICA*047, allele MICA*050 and allele MICA*052; dbSNP:rs41554412<li>T->M at 356: in allele MICA*049<li>D->A at 373: in allele MICA*004, allele MICA*006, allele MICA*010, allele MICA*011, allele MICA*016, allele MICA*019, allele MICA*048 and allele MICA*049<li>T->A at 377: in allele MICA*011<li>A->T at 383: in allele MICA*018</ul>	protein folding	GO:0006457	binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>P26718</li><li>P61252</li><li>Q9MZ37</li><li>Q9MZJ7</li>			2
Q2EN02		<ul><li>C->F at 130: in dbSNP:rs4845938</ul>									rs4845938	2
Q2HXU8	387837	<ul><li>T->N at 6: in dbSNP:rs1359082<li>V->L at 116: in dbSNP:rs637790</ul>									<li>rs637790</li><li>rs1359082</li>	2
Q2I0M5	343637	<ul><li>Q->R at 65: in anonychia, MIM: 206800<li>C->F at 95: in anonychia, MIM: 206800<li>R->Q at 106: in dbSNP:rs6140807, MIM: 206800<li>C->R at 107: in anonychia, MIM: 206800<li>C->Y at 118: in anonychia, MIM: 206800</ul>								Anonychia [MIM:206800]	rs6140807	2
Q2KHM9	9851	<ul><li>H->Q at 201: in dbSNP:rs16955985<li>E->D at 375: in dbSNP:rs9889363<li>E->G at 375: in dbSNP:rs17794522<li>N->D at 444: in dbSNP:rs2289643<li>P->L at 466: in dbSNP:rs2289642<li>V->M at 501: in dbSNP:rs11868877<li>P->L at 566: in dbSNP:rs2304977<li>R->Q at 896: in dbSNP:rs1443417</ul>									<li>rs2304977</li><li>rs17794522</li><li>rs9889363</li><li>rs16955985</li><li>rs1443417</li><li>rs2289642</li><li>rs11868877</li><li>rs2289643</li>	2
Q2KHR2	64864	<ul><li>G->V at 434: in dbSNP:rs16976751<li>V->L at 677: in dbSNP:rs3803460<li>L->P at 1256: in dbSNP:rs33984059</ul>									<li>rs3803460</li><li>rs16976751</li><li>rs33984059</li>	2
Q2KHR3	79832	<ul><li>Q->R at 644: in dbSNP:rs2297781<li>S->N at 1018: in dbSNP:rs7940077<li>N->D at 1304: in dbSNP:rs16923676</ul>									<li>rs7940077</li><li>rs2297781</li><li>rs16923676</li>	2
Q2KHT3	23274	<ul><li>G->E at 906: in dbSNP:rs2241100</ul>									rs2241100	2
Q2KHT4	83445	<ul><li>F->L at 39: in dbSNP:rs2306765<li>G->V at 67: in dbSNP:rs11546332</ul>									<li>rs2306765</li><li>rs11546332</li>	2
Q2LD37	84162	<ul><li>I->T at 978: in dbSNP:rs6848868<li>T->A at 4352: in dbSNP:rs2306369<li>T->A at 4786: in dbSNP:rs10017270</ul>									<li>rs10017270</li><li>rs6848868</li><li>rs2306369</li>	2
Q2M1K9	23090	<ul><li>N->S at 629: in dbSNP:rs34214571</ul>									rs34214571	2
Q2M1P5	374654	<ul><li>S->I at 958: in dbSNP:rs3803530<li>G->R at 1005: in dbSNP:rs12900805</ul>									<li>rs3803530</li><li>rs12900805</li>	2
Q2M1V0	91464	<ul><li>S->G at 28: in dbSNP:rs361863<li>P->S at 57: in dbSNP:rs362090<li>R->Q at 83: in dbSNP:rs8140287<li>A->V at 158: in dbSNP:rs7291048</ul>									<li>rs7291048</li><li>rs8140287</li><li>rs362090</li><li>rs361863</li>	2
Q2M1Z3	57514	<ul><li>P->L at 221: in dbSNP:rs751793<li>S->G at 803: in dbSNP:rs3732413<li>I->L at 1115: in dbSNP:rs12107254<li>V->M at 1366: in dbSNP:rs3796360<li>T->I at 1380: in dbSNP:rs9852894</ul>									<li>rs3732413</li><li>rs3796360</li><li>rs751793</li><li>rs12107254</li><li>rs9852894</li>	2
Q2M243	148870	<ul><li>Q->E at 54: in dbSNP:rs10910021<li>M->T at 267: in dbSNP:rs1181883<li>T->M at 353: in dbSNP:rs10910024</ul>									<li>rs1181883</li><li>rs10910024</li><li>rs10910021</li>	2
Q2M296		<ul><li>L->V at 45: in dbSNP:rs34005514<li>S->C at 296: in dbSNP:rs3751802<li>G->R at 315: in dbSNP:rs3751803</ul>									<li>rs3751803</li><li>rs3751802</li><li>rs34005514</li>	2
Q2M2E3	146852	<ul><li>W->R at 34: in dbSNP:rs12943505<li>V->M at 98: in dbSNP:rs12601097<li>Y->C at 139: in dbSNP:rs12936935</ul>									<li>rs12601097</li><li>rs12943505</li><li>rs12936935</li>	2
Q2M2E5	285668	<ul><li>A->T at 57: in dbSNP:rs16893687<li>R->W at 101: in dbSNP:rs436696</ul>									<li>rs16893687</li><li>rs436696</li>	2
Q2M2I3	54854	<ul><li>A->T at 91: in dbSNP:rs447802<li>P->L at 311: in dbSNP:rs3745728<li>R->H at 372: in dbSNP:rs3745727</ul>									<li>rs3745727</li><li>rs3745728</li><li>rs447802</li>	2
Q2M2I5	192666	<ul><li>A->T at 115: in dbSNP:rs9914185<li>G->D at 250: in dbSNP:rs7211480<li>M->I at 267: in dbSNP:rs874889<li>R->C at 366: in dbSNP:rs16966138<li>C->Y at 415: in dbSNP:rs12945784<li>W->R at 418: in dbSNP:rs12946793<li>K->E at 429: in dbSNP:rs2462961</ul>									<li>rs2462961</li><li>rs874889</li><li>rs12945784</li><li>rs7211480</li><li>rs12946793</li><li>rs16966138</li><li>rs9914185</li>	2
Q2M2I8	22848	<ul><li>I->V at 59: in dbSNP rsrs34535244<li>K->Q at 509: in dbSNP:rs6715776<li>Q->H at 533<li>V->A at 603: in dbSNP rsrs56038532<li>T->M at 694: in dbSNP rsrs55889248<li>P->T at 725: in dbSNP rsrs35285785<li>P->R at 771: in dbSNP rsrs34422616<li>D->G at 835</ul>									<li>rs34422616</li><li>rs55889248</li><li>rs35285785</li><li>rs6715776</li><li>rs34535244</li><li>rs56038532</li>	2
Q2M2W7	284018	<ul><li>I->V at 92: in dbSNP:rs9891146</ul>									rs9891146	2
Q2M2Z5	55857	<ul><li>Q->H at 139: in dbSNP:rs4815025<li>T->M at 236: in dbSNP:rs2236178</ul>									<li>rs2236178</li><li>rs4815025</li>	2
Q2M329	257236	<ul><li>E->K at 96: in dbSNP:rs871134</ul>									rs871134	2
Q2M385	219972	<ul><li>A->T at 467: in dbSNP:rs544864<li>P->L at 552: in dbSNP:rs7926933<li>Q->R at 694: in dbSNP:rs17153442</ul>									<li>rs17153442</li><li>rs7926933</li><li>rs544864</li>	2
Q2M389	23325	<ul><li>V->L at 323: in dbSNP:rs34434425<li>I->V at 901: in dbSNP:rs1663564</ul>									<li>rs34434425</li><li>rs1663564</li>	2
Q2M3A8		<ul><li>E->A at 6: in dbSNP:rs11026002<li>S->F at 135: in dbSNP:rs11026004<li>G->V at 142: in dbSNP:rs12280457</ul>									<li>rs11026004</li><li>rs12280457</li><li>rs11026002</li>	2
Q2M3C6	123591	<ul><li>R->H at 391: in dbSNP:rs937732<li>P->L at 427: in dbSNP:rs937733</ul>									<li>rs937732</li><li>rs937733</li>	2
Q2M3C7	80309	<ul><li>G->R at 425: in dbSNP:rs4283414<li>K->E at 617: in dbSNP:rs3811514<li>H->Q at 847: in dbSNP:rs3811515<li>Q->R at 867: in dbSNP:rs3828161</ul>									<li>rs4283414</li><li>rs3811515</li><li>rs3828161</li><li>rs3811514</li>	2
Q2M3D2	90332	<ul><li>N->D at 173: in dbSNP:rs10411314</ul>									rs10411314	2
Q2M3G0	340273	<ul><li>K->E at 115: in dbSNP:rs2301641<li>K->R at 224: in dbSNP:rs13222448<li>E->V at 230: in a colorectal cancer sample; somatic mutation<li>Q->H at 460: in dbSNP:rs35885925<li>A->T at 470: in dbSNP:rs17143304<li>K->E at 525: in dbSNP:rs6461515</ul>									<li>rs35885925</li><li>rs2301641</li><li>rs13222448</li><li>rs17143304</li><li>rs6461515</li>	2
Q2M3G4	134549	<ul><li>P->L at 180: in dbSNP:rs2292030</ul>									rs2292030	2
Q2M3M2	200010	<ul><li>V->M at 152: in dbSNP:rs212989<li>M->T at 207: in dbSNP:rs12047252<li>I->M at 269: in dbSNP:rs212991</ul>									<li>rs12047252</li><li>rs212989</li><li>rs212991</li>	2
Q2M3T9	23553	<ul><li>A->S at 346: in dbSNP:rs6949082</ul>									rs6949082	2
Q2M3X9	641339	<ul><li>L->F at 182: in dbSNP:rs1737367<li>T->M at 343<li>P->L at 412: in MRX92; uncertain pathological significance, MIM: 300573</ul>								Mental retardation X-linked type 92 (MRX92) [MIM:300573]	rs1737367	2
Q2NKJ3	80169	<ul><li>V->I at 820: in dbSNP:rs3027238<li>V->I at 1005: in dbSNP:rs3826543</ul>									<li>rs3826543</li><li>rs3027238</li>	2
Q2NKK8	144132	<ul><li>V->E at 240: in dbSNP:rs2555158<li>D->N at 317: in dbSNP:rs2555152<li>H->Y at 418: in dbSNP:rs4758423<li>Q->E at 560: in dbSNP:rs11603869</ul>									<li>rs11603869</li><li>rs2555158</li><li>rs4758423</li><li>rs2555152</li>	2
Q2NKQ1	129049	<ul><li>T->P at 802: in dbSNP:rs6004350<li>R->K at 873: in dbSNP:rs2073201</ul>									<li>rs2073201</li><li>rs6004350</li>	2
Q2NL82	55720	<ul><li>S->G at 386: in dbSNP:rs2281726<li>N->S at 719: in dbSNP:rs2273983<li>K->Q at 727: in dbSNP:rs35019711<li>H->Q at 750: in dbSNP:rs35343613</ul>									<li>rs35343613</li><li>rs35019711</li><li>rs2273983</li><li>rs2281726</li>	2
Q2PPJ7	57186	<ul><li>S->N at 492: in dbSNP:rs6137081</ul>									rs6137081	2
Q2PZI1	23333	<ul><li>G->V at 502: in dbSNP:rs1637696</ul>									rs1637696	2
Q2T9K0		<ul><li>H->N at 24: in dbSNP:rs1675955</ul>									rs1675955	2
Q2TAC2	284001	<ul><li>E->Q at 237: in dbSNP:rs34543170<li>Q->R at 321: in dbSNP:rs7406116<li>M->V at 480: in dbSNP:rs7209474<li>R->G at 775: in dbSNP:rs4625783<li>D->N at 777: in dbSNP:rs7406163<li>A->T at 778: in dbSNP:rs7406162<li>Q->K at 811: in dbSNP:rs7213172<li>M->T at 834: in dbSNP:rs11077969</ul>									<li>rs7406163</li><li>rs34543170</li><li>rs7406162</li><li>rs11077969</li><li>rs7406116</li><li>rs7213172</li><li>rs7209474</li><li>rs4625783</li>	2
Q2TAC6	124602	<ul><li>R->W at 471: in dbSNP:rs2382644<li>L->P at 937: in dbSNP:rs9891620</ul>									<li>rs9891620</li><li>rs2382644</li>	2
Q2TAK8	84939	<ul><li>R->G at 219: in dbSNP:rs3826942<li>G->A at 551: in dbSNP:rs34502536</ul>									<li>rs34502536</li><li>rs3826942</li>	2
Q2TAL5	342527	<ul><li>A->T at 162: in dbSNP:rs12449695</ul>									rs12449695	2
Q2TAL6	375567	<ul><li>A->G at 120: in dbSNP:rs769604</ul>									rs769604	2
Q2TAM9	286319	<ul><li>D->N at 120: in dbSNP:rs34498078</ul>									rs34498078	2
Q2TAZ0	23130	<ul><li>V->I at 175: in dbSNP:rs12293826<li>A->V at 627: in dbSNP:rs2285347<li>G->R at 948: in dbSNP:rs11827140</ul>									<li>rs11827140</li><li>rs2285347</li><li>rs12293826</li>	2
Q2TB10	168850	<ul><li>L->V at 102: in dbSNP:rs17865569</ul>									rs17865569	2
Q2TB90	80201	<ul><li>D->G at 54: in dbSNP:rs10823320<li>T->I at 124: in dbSNP:rs874556<li>L->P at 204: in dbSNP:rs7899445<li>R->W at 721: in dbSNP:rs1111335<li>N->K at 917: in dbSNP:rs906219</ul>									<li>rs1111335</li><li>rs906219</li><li>rs874556</li><li>rs7899445</li><li>rs10823320</li>	2
Q2TBA0	131377	<ul><li>N->S at 345: in dbSNP:rs6805421<li>C->R at 617: in dbSNP:rs123509</ul>									<li>rs123509</li><li>rs6805421</li>	2
Q2TBE0		<ul><li>P->T at 206: in dbSNP:rs608634<li>H->Y at 439: in dbSNP:rs659040<li>H->Q at 441: in dbSNP:rs35968518<li>G->R at 533: in dbSNP:rs17106909<li>Y->C at 890: in dbSNP:rs3758911</ul>									<li>rs608634</li><li>rs3758911</li><li>rs17106909</li><li>rs35968518</li><li>rs659040</li>	2
Q2TBF2	9671	<ul><li>T->I at 266: in dbSNP:rs3764002</ul>									rs3764002	2
Q2UY09	340267	<ul><li>A->G at 189: in dbSNP:rs7804532<li>I->V at 239: in dbSNP:rs10486180<li>T->S at 327: in dbSNP:rs10486176<li>E->D at 433: in dbSNP:rs6952195<li>A->P at 472: in dbSNP:rs17167927<li>R->Q at 741: in dbSNP:rs17167102</ul>									<li>rs6952195</li><li>rs10486176</li><li>rs17167102</li><li>rs10486180</li><li>rs7804532</li><li>rs17167927</li>	2
Q2VIQ3	285643	<ul><li>E->Q at 494: in dbSNP:rs17116709<li>R->L at 580: in dbSNP:rs6580126<li>R->H at 680: in dbSNP:rs17116710</ul>									<li>rs17116709</li><li>rs17116710</li><li>rs6580126</li>	2
Q2VPA4	1379	<ul><li>G->R at 116: in dbSNP:rs2296158<li>I->V at 139: in dbSNP:rs3085<li>N->D at 402: in dbSNP:rs12729569<li>V->I at 455: in dbSNP:rs6683902<li>L->P at 491: in dbSNP:rs2796257</ul>									<li>rs3085</li><li>rs6683902</li><li>rs12729569</li><li>rs2796257</li><li>rs2296158</li>	2
Q2VPJ9	388886	<ul><li>S->R at 140: in dbSNP:rs743370</ul>									rs743370	2
Q2VPK5	348180	<ul><li>M->V at 253: in dbSNP:rs11549837<li>V->I at 332: in dbSNP:rs4782321<li>Q->R at 416: in dbSNP:rs8059048</ul>									<li>rs4782321</li><li>rs11549837</li><li>rs8059048</li>	2
Q2VWA4	652991	<ul><li>F->C at 947: in dbSNP:rs7235231</ul>									rs7235231	2
Q2VWP7	283659	<ul><li>T->A at 236: in dbSNP:rs16976466<li>V->L at 826: in dbSNP:rs10518816<li>I->L at 1062: in dbSNP:rs1438914</ul>									<li>rs16976466</li><li>rs10518816</li><li>rs1438914</li>	2
Q2VY69	342909	<ul><li>K->E at 546: in dbSNP:rs8113249</ul>									rs8113249	2
Q2WEN9	388551	<ul><li>V->F at 31: in dbSNP:rs2119660</ul>									rs2119660	2
Q2WGJ9	654463	<ul><li>D->E at 1110: in dbSNP:rs7012186</ul>									rs7012186	2
Q2WGN9	128954	<ul><li>L->P at 273: in dbSNP:rs11703655</ul>									rs11703655	2
Q2Y0W8	9498	<ul><li>D->A at 312: in dbSNP:rs35966334<li>I->V at 898: in dbSNP:rs12318785</ul>									<li>rs35966334</li><li>rs12318785</li>	2
Q2YD98	57654	<ul><li>R->H at 391: in dbSNP:rs2276904<li>L->P at 620: in dbSNP:rs28522910</ul>									<li>rs2276904</li><li>rs28522910</li>	2
Q30134		<ul><li>S->D at 86: in allele DRB1*0802 and allele DRB1*0804; requires 2 nucleotide substitutions<li>F->I at 96: in allele DRB1*0803<li>G->V at 115: in allele DRB1*0804</ul>							Q8IUH3			2
Q30154	3127	<ul><li>M->T at 20: in dbSNP:rs17211043<li>L->S at 28<li>R->Q at 33: in dbSNP:rs34716432<li>K->T at 41: in dbSNP:rs1136756<li>N->H at 62: in dbSNP:rs1059576<li>T->N at 106: in dbSNP:rs16822752<li>G->A at 154</ul>									<li>rs16822752</li><li>rs1059576</li><li>rs17211043</li><li>rs1136756</li><li>rs34716432</li>	2
Q30201	3077	<ul><li>R->S at 6: in HH, MIM: 235200<li>G->D at 43: in HH; located on the same allele as D-63, MIM: 235200<li>V->M at 53: in dbSNP rsrs28934889, MIM: 235200<li>V->M at 59: in dbSNP rsrs28934890, MIM: 235200<li>H->D at 63: in HH and PV; dbSNP:rs1799945, MIM: 176200<li>S->C at 65: in HH; mild form; dbSNP:rs1800730, MIM: 235200<li>R->C at 66: in HH, MIM: 235200<li>G->R at 93: in HH; dbSNP:rs28934597, MIM: 235200<li>I->T at 105: in HH; dbSNP:rs28934596, MIM: 235200<li>Q->H at 127: in HH and PV; dbSNP:rs28934595, MIM: 176200<li>A->V at 176: in HH; uncertain pathological significance, MIM: 235200<li>T->I at 217: in dbSNP:rs4986950, MIM: 235200<li>R->G at 224: in HH, MIM: 235200<li>E->K at 277: rare polymorphism, MIM: 235200<li>C->Y at 282: in HH; dbSNP:rs1800562, MIM: 235200<li>Q->P at 283: in HH; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake, MIM: 235200<li>V->A at 295: in HH, MIM: 235200<li>R->M at 330: in HH, MIM: 235200</ul>							<li>Q9GL41</li><li>Q9GL42</li><li>P21612</li><li>Q9GL43</li><li>P23055</li><li>P30442</li><li>P30441</li><li>P21611</li><li>P61769</li><li>Q8HZV3</li><li>P19717</li><li>O77529</li><li>Q9GLD3</li><li>Q6V7J5</li><li>O77528</li><li>O77526</li><li>O77525</li><li>O77524</li><li>Q861S3</li><li>O77523</li><li>P63061</li><li>P63062</li><li>P22044</li><li>O77521</li><li>O77520</li><li>P63060</li><li>P35939</li><li>Q86606</li><li>Q71UN6</li><li>P01885</li><li>Q71UN7</li><li>P01886</li><li>Q71UN4</li><li>Q71UN5</li><li>P01888</li><li>Q07717</li><li>P21740</li><li>P16595</li><li>P27425</li><li>O77518</li><li>O77517</li><li>P30928</li><li>P30927</li><li>O77519</li><li>P23056</li><li>Q07891</li><li>P23057</li><li>P61770</li><li>Q9GKZ0</li><li>P61771</li><li>Q71UN3</li><li>Q864T6</li><li>P03422</li><li>P12346</li><li>Q864T8</li><li>Q864T7</li><li>Q00793</li><li>Q06427</li><li>Q06428</li><li>P09571</li><li>P26033</li><li>Q6QAT4</li><li>Q9WS39</li><li>P26036</li><li>P55076</li><li>P63064</li><li>P06940</li><li>P63063</li><li>P63066</li><li>P63065</li><li>P63068</li><li>P63067</li><li>P55079</li><li>P63069</li><li>Q6T672</li><li>P11208</li><li>P11207</li><li>Q29443</li><li>Q9MYZ3</li><li>P63070</li><li>P63071</li><li>P60168</li><li>P60167</li><li>P60169</li><li>Q8AXA0</li><li>P19847</li><li>Q03335</li><li>P60166</li><li>Q5RDH6</li><li>Q9GKM2</li><li>O42197</li><li>Q03340</li><li>Q9PRF8</li><li>P35974</li><li>Q5MGS7</li><li>Q6PZD3</li><li>P02787</li><li>P19341</li><li>P02786</li><li>P60018</li><li>Q921I1</li><li>P21738</li><li>Q8CIQ3</li><li>P21739</li><li>Q9EMA9</li><li>Q8SPW0</li><li>Q863A9</li><li>P16213</li><li>Q2V905</li><li>Q9WV24</li><li>P36315</li><li>Q8AYH8</li><li>P33483</li><li>Q9IC37</li><li>Q863B1</li><li>Q03423</li><li>Q03422</li><li>Q9TSX4</li><li>O77530</li><li>O77531</li><li>Q9QM81</li><li>O77532</li><li>P35945</li><li>O77533</li><li>O77534</li><li>Q90997</li><li>O77535</li><li>O77536</li><li>P35941</li><li>O77537</li><li>Q30201</li><li>P19134</li><li>P16072</li>	<li>Hereditary hemochromatosis (HH) [MIM:235200]</li><li>Porphyria variegata (PV) [MIM:176200]</li>	<li>rs28934889</li><li>rs1800730</li><li>rs1799945</li><li>rs28934596</li><li>rs28934890</li><li>rs28934595</li><li>rs28934597</li><li>rs1800562</li><li>rs4986950</li>	2
Q30KQ4	245930	<ul><li>Q->L at 19: in dbSNP:rs6119768</ul>									rs6119768	2
Q32M45	121601	<ul><li>G->A at 115: in dbSNP:rs34162417</ul>									rs34162417	2
Q32M84	118663	<ul><li>R->Q at 318: in dbSNP:rs2421013<li>G->D at 331: in dbSNP:rs986178<li>H->P at 439: in dbSNP:rs1048347<li>Q->R at 472: in dbSNP:rs10510108</ul>									<li>rs986178</li><li>rs1048347</li><li>rs2421013</li><li>rs10510108</li>	2
Q32M92	145858	<ul><li>A->T at 17: in dbSNP:rs1455773</ul>									rs1455773	2
Q32MH5	56204	<ul><li>Q->R at 135: in dbSNP:rs8036680<li>V->I at 560: in dbSNP:rs12915981</ul>									<li>rs8036680</li><li>rs12915981</li>	2
Q32MK0	91807	<ul><li>G->R at 366: in a colorectal cancer sample; somatic mutation</ul>										2
Q32MQ0	79755	<ul><li>M->V at 235: in dbSNP:rs8074277<li>P->L at 288: in dbSNP:rs35653278<li>Q->R at 392: in dbSNP:rs34687659</ul>									<li>rs8074277</li><li>rs35653278</li><li>rs34687659</li>	2
Q32MZ4	9208	<ul><li>S->C at 68: in a breast cancer sample; somatic mutation<li>Q->R at 275: in dbSNP:rs3213869<li>N->S at 418: in dbSNP:rs2001301<li>E->K at 609: in dbSNP:rs3739041<li>P->L at 645: in dbSNP:rs3739040<li>R->G at 779: in dbSNP:rs3739039<li>H->D at 783: in dbSNP:rs3739038</ul>									<li>rs2001301</li><li>rs3739040</li><li>rs3739041</li><li>rs3739038</li><li>rs3739039</li><li>rs3213869</li>	2
Q32NC0	83608	<ul><li>T->A at 132: in dbSNP:rs2276314</ul>									rs2276314	2
Q32P28	64175	<ul><li>G->R at 349: in dbSNP:rs6700677<li>P->R at 506: in dbSNP:rs3738501<li>M->I at 549: in dbSNP:rs11581921<li>Q->K at 644: in dbSNP:rs3738497</ul>									<li>rs3738497</li><li>rs11581921</li><li>rs3738501</li><li>rs6700677</li>	2
Q32P41	57570	<ul><li>S->P at 217: in dbSNP:rs7142228<li>L->P at 255: in dbSNP:rs2882686<li>E->A at 294: in dbSNP:rs2296928</ul>									<li>rs2296928</li><li>rs2882686</li><li>rs7142228</li>	2
Q32P44	256364	<ul><li>Q->K at 620: in dbSNP:rs34098002</ul>									rs34098002	2
Q32P51	144983	<ul><li>N->D at 215: in dbSNP:rs9536212</ul>									rs9536212	2
Q330K2	137682	<ul><li>Q->R at 99: in complex I deficiency</ul>							Q07842			2
Q33E94	5992	<ul><li>N->S at 687</ul>										2
Q38SD2	79705	<ul><li>A->T at 1826<li>L->F at 1847<li>S->N at 1870<li>D->G at 1950</ul>										2
Q3B7T1	26098	<ul><li>N->S at 45: in a colorectal cancer sample; somatic mutation<li>L->F at 95: in a colorectal cancer sample; somatic mutation</ul>										2
Q3B820	84140	<ul><li>I->V at 236: in dbSNP:rs17513722<li>E->K at 273: in dbSNP:rs6733774</ul>									<li>rs17513722</li><li>rs6733774</li>	2
Q3BBV0	55672	<ul><li>I->M at 20: in dbSNP:rs9730080<li>N->K at 31: in dbSNP:rs9730077<li>A->T at 510: in dbSNP:rs681623<li>C->G at 591: in dbSNP:rs3738661<li>V->M at 612: in dbSNP:rs672812<li>R->C at 663: in dbSNP:rs28453011<li>H->D at 712: in dbSNP:rs3901680<li>K->E at 726: in dbSNP:rs3901679<li>Q->P at 734: in dbSNP:rs9727080<li>Q->K at 850: in dbSNP:rs11581926</ul>									<li>rs3738661</li><li>rs9730077</li><li>rs9727080</li><li>rs681623</li><li>rs672812</li><li>rs3901679</li><li>rs11581926</li><li>rs3901680</li><li>rs28453011</li><li>rs9730080</li>	2
Q3I5F7	641372	<ul><li>E->K at 166: in dbSNP:rs17782052</ul>									rs17782052	2
Q3KNS1	374308	<ul><li>T->A at 126: in dbSNP:rs12098477<li>L->P at 152: in dbSNP:rs6482626<li>A->G at 224: in dbSNP:rs12098562<li>R->K at 372: in dbSNP:rs2152099<li>C->G at 407: in dbSNP:rs2484180<li>D->G at 473: in dbSNP:rs2429485<li>M->T at 521: in dbSNP:rs2505327<li>M->I at 584: in dbSNP:rs1638630</ul>									<li>rs2505327</li><li>rs1638630</li><li>rs2484180</li><li>rs12098562</li><li>rs2152099</li><li>rs12098477</li><li>rs2429485</li><li>rs6482626</li>	2
Q3KNW5	345274	<ul><li>S->F at 6: in dbSNP:rs17694522<li>I->V at 114: in dbSNP:rs13106574</ul>									<li>rs13106574</li><li>rs17694522</li>	2
Q3KP44	79722	<ul><li>V->M at 344: in dbSNP:rs321776</ul>									rs321776	2
Q3KP66	55765	<ul><li>C->R at 538: in dbSNP:rs296520</ul>									rs296520	2
Q3KPI0	90273	<ul><li>T->N at 121: in dbSNP:rs714106<li>M->V at 198: in dbSNP:rs2302188</ul>									<li>rs2302188</li><li>rs714106</li>	2
Q3KQU3	55700	<ul><li>R->W at 104: in dbSNP:rs2296266<li>R->S at 531: in dbSNP:rs12563354</ul>									<li>rs2296266</li><li>rs12563354</li>	2
Q3KQV3	126375	<ul><li>R->Q at 177: in dbSNP:rs2651079<li>R->W at 525: in dbSNP:rs3746244</ul>									<li>rs3746244</li><li>rs2651079</li>	2
Q3KQV9	91373	<ul><li>A->V at 319: in dbSNP:rs7037849<li>P->S at 373: in dbSNP:rs1122444</ul>									<li>rs7037849</li><li>rs1122444</li>	2
Q3KR16	55200	<ul><li>A->T at 35: in dbSNP:rs740842</ul>									rs740842	2
Q3KRA6	130355	<ul><li>V->I at 46: in dbSNP:rs6542522<li>R->K at 116: in dbSNP:rs1052500</ul>									<li>rs6542522</li><li>rs1052500</li>	2
Q3L8U1	80205	<ul><li>D->E at 2312: in dbSNP:rs6499548</ul>									rs6499548	2
Q3LFD5		<ul><li>Y->C at 130: in dbSNP:rs2542134<li>N->S at 325: in dbSNP:rs2277833</ul>									<li>rs2277833</li><li>rs2542134</li>	2
Q3LHN2	337969	<ul><li>Y->H at 5: in dbSNP:rs7280687<li>G->C at 32: in dbSNP:rs8131735</ul>									<li>rs8131735</li><li>rs7280687</li>	2
Q3LI54	728299	<ul><li>A->T at 61: in dbSNP:rs7279142</ul>									rs7279142	2
Q3LI58	337977	<ul><li>G->S at 15: in a breast cancer sample; somatic mutation</ul>										2
Q3LI63	337975	<ul><li>S->L at 52: in a breast cancer sample; somatic mutation</ul>										2
Q3LI67		<ul><li>Y->S at 51: in dbSNP:rs9305426</ul>									rs9305426	2
Q3LI73	337971	<ul><li>Y->C at 48: in dbSNP:rs2298437</ul>									rs2298437	2
Q3LI76	254950	<ul><li>L->M at 43: in dbSNP:rs2832873</ul>									rs2832873	2
Q3LI77	284827	<ul><li>A->T at 59: in dbSNP:rs2226548<li>R->H at 154: in dbSNP:rs999597</ul>									<li>rs999597</li><li>rs2226548</li>	2
Q3LI81	643812	<ul><li>A->V at 99: in dbSNP:rs2244485</ul>									rs2244485	2
Q3LIE5	56985	<ul><li>L->R at 92: in dbSNP:rs34940296<li>E->G at 337: in dbSNP:rs406446</ul>									<li>rs34940296</li><li>rs406446</li>	2
Q3LXA3	26007	<ul><li>T->A at 185: in dbSNP:rs2260655<li>A->G at 334: in dbSNP:rs35723406</ul>									<li>rs35723406</li><li>rs2260655</li>	2
Q3MHD2	124801	<ul><li>P->R at 77: in dbSNP:rs17854322</ul>									rs17854322	2
Q3MIN7	57139	<ul><li>P->H at 162: in dbSNP:rs167479<li>V->A at 164: in dbSNP:rs160838<li>R->C at 615: in dbSNP:rs2291516</ul>									<li>rs2291516</li><li>rs167479</li><li>rs160838</li>	2
Q3MIP1	162073	<ul><li>C->S at 237: in dbSNP:rs8051801<li>P->S at 522: in dbSNP:rs11074362</ul>									<li>rs8051801</li><li>rs11074362</li>	2
Q3MIS6	84436	<ul><li>S->N at 419: in dbSNP:rs324109</ul>									rs324109	2
Q3MIT2	150962	<ul><li>T->I at 484: in a colorectal cancer sample; somatic mutation</ul>										2
Q3MIW9	135656	<ul><li>G->R at 337: in dbSNP:rs11970154<li>E->K at 419: in dbSNP:rs3132580<li>R->Q at 517: in dbSNP:rs2240804</ul>									<li>rs2240804</li><li>rs3132580</li><li>rs11970154</li>	2
Q3MIX3	203054	<ul><li>R->S at 17: in dbSNP:rs6599528</ul>									rs6599528	2
Q3MJ13	256764	<ul><li>L->F at 819: in dbSNP:rs17730281<li>S->A at 833: in dbSNP:rs16966320</ul>									<li>rs16966320</li><li>rs17730281</li>	2
Q3MJ16		<ul><li>N->S at 370: in dbSNP:rs4924595<li>A->T at 663: in dbSNP:rs8030775</ul>									<li>rs8030775</li><li>rs4924595</li>	2
Q3SX64	284451	<ul><li>V->A at 135: in dbSNP:rs34551779</ul>									rs34551779	2
Q3SXM5	83693	<ul><li>P->S at 248: in dbSNP:rs11540436<li>C->S at 327: in dbSNP:rs4378600</ul>									<li>rs4378600</li><li>rs11540436</li>	2
Q3SXY7	345193	<ul><li>M->L at 209: in dbSNP:rs764205<li>T->A at 359: in dbSNP:rs2347131<li>M->T at 376: in dbSNP:rs2347132</ul>									<li>rs2347131</li><li>rs2347132</li><li>rs764205</li>	2
Q3SXY8	200894	<ul><li>R->Q at 79: in JBTS8; reduces binding to GTP, MIM: 612291<li>R->C at 200: in JBTS8, MIM: 612291<li>T->S at 348: in dbSNP:rs33944211, MIM: 612291</ul>			binding	GO:0005488				Joubert syndrome type 8 (JBTS8) [MIM:612291]	rs33944211	2
Q3SXZ7	164395	<ul><li>Y->C at 76: in dbSNP:rs17093689</ul>									rs17093689	2
Q3SY00	254187	<ul><li>A->V at 210: in dbSNP:rs565921<li>R->S at 237: in dbSNP:rs7927388<li>S->N at 292: in dbSNP:rs7927826<li>R->P at 305: in dbSNP:rs7927841<li>V->M at 521: in dbSNP:rs491973</ul>									<li>rs7927841</li><li>rs565921</li><li>rs491973</li><li>rs7927826</li><li>rs7927388</li>	2
Q3SY05	284573	<ul><li>V->A at 98: in dbSNP:rs4951039</ul>									rs4951039	2
Q3SY56	80320	<ul><li>V->I at 156: in dbSNP:rs34309518</ul>									rs34309518	2
Q3SY77	167127	<ul><li>R->H at 515: in a colorectal cancer sample; somatic mutation</ul>										2
Q3SY84	112802	<ul><li>V->I at 107: in dbSNP:rs665522<li>E->K at 122: in dbSNP:rs665470<li>I->F at 355: in dbSNP:rs35988863<li>G->V at 464: in dbSNP:rs10783518<li>R->Q at 523: in dbSNP:rs2292506</ul>									<li>rs35988863</li><li>rs665470</li><li>rs2292506</li><li>rs665522</li><li>rs10783518</li>	2
Q3SYC2	80168	<ul><li>M->V at 9: in dbSNP:rs554202<li>P->H at 196: in dbSNP:rs34582952<li>C->Y at 313: in dbSNP:rs12281468</ul>									<li>rs34582952</li><li>rs12281468</li><li>rs554202</li>	2
Q3SYG4	27241	<ul><li>T->A at 12: in dbSNP:rs4498440<li>G->R at 141: in BBS9, MIM: 209900<li>A->T at 455: in dbSNP:rs11773504, MIM: 209900<li>A->V at 455: in dbSNP:rs11773504, MIM: 209900<li>R->Q at 521: in dbSNP:rs34218557, MIM: 209900</ul>							Q3SYG4	Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]	<li>rs11773504</li><li>rs4498440</li><li>rs34218557</li>	2
Q3T8J9	54856	<ul><li>M->V at 1418: in dbSNP:rs2297775</ul>									rs2297775	2
Q3T906	79158	<ul><li>K->Q at 4: in MLIIIA; dbSNP:rs34159654, MIM: 252600<li>D->V at 190: in dbSNP:rs34946266, MIM: 252600<li>I->L at 348: in dbSNP:rs7958709, MIM: 252600<li>D->A at 407: in MLIIIA, MIM: 252600<li>A->G at 662, MIM: 252600<li>K->M at 1236: in MLII; not only impairs lysosomal enzyme targeting but also the availability of intact GNPTG required for phosphotransferase activity and assembly of subunits, MIM: 252500</ul>							<li>Q58CS8</li><li>Q9UJJ9</li>	<li>Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]</li><li>Mucolipidosis type II (MLII) [MIM:252500]</li>	<li>rs34159654</li><li>rs34946266</li><li>rs7958709</li>	2
Q3V5L5	146664	<ul><li>V->I at 70: in dbSNP:rs571264</ul>									rs571264	2
Q3YBM2	28959	<ul><li>P->S at 55: in dbSNP:rs11546671<li>T->A at 70: in dbSNP:rs28434777<li>R->S at 94: in dbSNP:rs3173833<li>A->T at 134: in dbSNP:rs2072443<li>R->W at 180: in dbSNP:rs17256042</ul>									<li>rs28434777</li><li>rs17256042</li><li>rs3173833</li><li>rs11546671</li><li>rs2072443</li>	2
Q3YEC7	55684	<ul><li>E->Q at 382: in dbSNP:rs2811741</ul>									rs2811741	2
Q3ZCM7	347688	<ul><li>L->F at 345: in dbSNP:rs4880608</ul>									rs4880608	2
Q3ZCN5		<ul><li>C->F at 653: in a breast cancer sample; somatic mutation</ul>										2
Q3ZCQ2	389289	<ul><li>R->Q at 119: in dbSNP:rs1054428<li>R->W at 186: in dbSNP:rs10971</ul>									<li>rs1054428</li><li>rs10971</li>	2
Q3ZCQ3	400451	<ul><li>S->L at 114: in dbSNP:rs34052034</ul>									rs34052034	2
Q3ZCT8	166348	<ul><li>Q->K at 22: in dbSNP:rs4141499</ul>									rs4141499	2
Q3ZCV2	163747	<ul><li>G->C at 126: in dbSNP:rs9782980<li>Y->H at 205: in dbSNP:rs600499</ul>									<li>rs600499</li><li>rs9782980</li>	2
Q3ZCX4	374900	<ul><li>M->T at 437: in dbSNP:rs547483<li>Q->R at 642: in dbSNP:rs1644634</ul>									<li>rs1644634</li><li>rs547483</li>	2
Q400G9	155185	<ul><li>R->H at 491: in dbSNP:rs7776970</ul>									rs7776970	2
Q401N2	353174	<ul><li>A->T at 152: in dbSNP:rs2257020</ul>									rs2257020	2
Q460N3	165631	<ul><li>R->K at 315: in dbSNP:rs6793271<li>G->R at 606: in dbSNP:rs12489170</ul>									<li>rs6793271</li><li>rs12489170</li>	2
Q494R4	283152	<ul><li>R->H at 101: in dbSNP:rs2301574</ul>									rs2301574	2
Q494U1	84069	<ul><li>R->P at 539: in dbSNP:rs3829740</ul>									rs3829740	2
Q495B1	348094	<ul><li>K->E at 264: in dbSNP:rs34988193</ul>									rs34988193	2
Q495D7	283422	<ul><li>P->L at 38: in dbSNP:rs11055389<li>A->E at 76: in dbSNP:rs17821405<li>I->V at 84: in dbSNP:rs7308685</ul>									<li>rs17821405</li><li>rs11055389</li><li>rs7308685</li>	2
Q495M3	153201	<ul><li>A->V at 445: in dbSNP:rs10042608</ul>									rs10042608	2
Q495M9	124590	<ul><li>L->P at 48: in USH1G, MIM: 606943</ul>							Q495M9	Usher syndrome type 1G (USH1G) [MIM:606943]		2
Q495N2	285641	<ul><li>K->E at 167: in dbSNP:rs978012<li>P->S at 185: in dbSNP:rs12520516<li>R->H at 190: in dbSNP:rs17660042<li>E->D at 415: in dbSNP:rs13155282<li>S->F at 421: in dbSNP:rs13155520</ul>									<li>rs12520516</li><li>rs13155520</li><li>rs978012</li><li>rs13155282</li><li>rs17660042</li>	2
Q495T6		<ul><li>M->T at 518: in dbSNP:rs3748816</ul>									rs3748816	2
Q495W5	170384	<ul><li>S->A at 51: in dbSNP:rs17853514</ul>									rs17853514	2
Q495Z4	339201	<ul><li>S->R at 32: in dbSNP:rs7217858</ul>									rs7217858	2
Q496A3	221409	<ul><li>G->R at 8: in dbSNP:rs10948132</ul>									rs10948132	2
Q496F6	342510	<ul><li>K->T at 19: in dbSNP:rs581157<li>T->A at 27: in a colorectal cancer sample; somatic mutation<li>R->G at 158: in dbSNP:rs1878061</ul>									<li>rs581157</li><li>rs1878061</li>	2
Q496J9	22987	<ul><li>T->S at 482: in dbSNP:rs2270927<li>D->N at 543: in dbSNP:rs31244</ul>									<li>rs31244</li><li>rs2270927</li>	2
Q496Y0	79836	<ul><li>A->G at 122: in a breast cancer sample; somatic mutation</ul>										2
Q499Z3	200172	<ul><li>A->T at 30: in dbSNP:rs1138293<li>R->S at 128: in dbSNP:rs17851964<li>R->T at 144: in dbSNP:rs3738368</ul>									<li>rs1138293</li><li>rs3738368</li><li>rs17851964</li>	2
Q49A26	84656	<ul><li>N->D at 103: in dbSNP:rs34176249<li>Q->H at 459: in dbSNP:rs2085329<li>Y->C at 531: in dbSNP:rs17703111</ul>									<li>rs34176249</li><li>rs17703111</li><li>rs2085329</li>	2
Q49A88		<ul><li>T->P at 317: in dbSNP:rs17310144</ul>									rs17310144	2
Q49A92	116328	<ul><li>K->N at 75: in a colorectal cancer sample; somatic mutation<li>A->T at 426: in dbSNP:rs16935065</ul>									rs16935065	2
Q49AA0	339559	<ul><li>V->L at 113: in dbSNP:rs34752670</ul>									rs34752670	2
Q49AG3	58486	<ul><li>A->V at 17: in dbSNP:rs2232918<li>Q->R at 47: in dbSNP:rs2232919<li>P->S at 77: in dbSNP:rs2232920</ul>									<li>rs2232920</li><li>rs2232919</li><li>rs2232918</li>	2
Q49AJ0	51059	<ul><li>I->V at 477: in dbSNP:rs7835830<li>D->N at 846: in dbSNP:rs2978180</ul>									<li>rs2978180</li><li>rs7835830</li>	2
Q49AM1	80298	<ul><li>L->V at 14: in dbSNP:rs34238336<li>A->V at 31: in dbSNP:rs35305400<li>A->G at 81: in dbSNP:rs35548605<li>V->I at 198: in dbSNP:rs1043157</ul>									<li>rs35548605</li><li>rs34238336</li><li>rs1043157</li><li>rs35305400</li>	2
Q49AM3	64427	<ul><li>A->V at 28: in dbSNP:rs6707475<li>T->P at 205: in dbSNP:rs35852562</ul>									<li>rs35852562</li><li>rs6707475</li>	2
Q49AR2	55322	<ul><li>T->P at 235: in dbSNP:rs17410000<li>D->E at 405: in dbSNP:rs16901277</ul>									<li>rs16901277</li><li>rs17410000</li>	2
Q49MG5	79884	<ul><li>M->V at 146: in dbSNP:rs34082815<li>R->W at 177: in dbSNP:rs3733391<li>K->R at 499: in dbSNP:rs1058992<li>N->D at 601: in dbSNP:rs2305050</ul>									<li>rs1058992</li><li>rs2305050</li><li>rs3733391</li><li>rs34082815</li>	2
Q49MI3	375298	<ul><li>L->F at 232: in dbSNP:rs10185262<li>E->G at 514: in dbSNP:rs35955809</ul>									<li>rs35955809</li><li>rs10185262</li>	2
Q4AC94	26005	<ul><li>P->R at 773: in dbSNP:rs34050666<li>R->Q at 997: in dbSNP:rs11235995<li>Q->R at 1219: in dbSNP:rs826058<li>Y->C at 1297: in dbSNP:rs1095423<li>S->N at 1663: in dbSNP:rs12419308<li>G->W at 1831: in dbSNP:rs1632245<li>R->G at 1832: in dbSNP:rs1632242</ul>									<li>rs12419308</li><li>rs826058</li><li>rs34050666</li><li>rs1095423</li><li>rs1632242</li><li>rs11235995</li><li>rs1632245</li>	2
Q4AE62	79712	<ul><li>M->I at 137: in dbSNP:rs3731958</ul>									rs3731958	2
Q4FZB7	51111	<ul><li>I->N at 9: in dbSNP:rs2512606</ul>									rs2512606	2
Q4G0A6	84182	<ul><li>D->A at 183: in dbSNP:rs34357272<li>S->L at 262: in dbSNP:rs17159453<li>M->T at 322: in dbSNP:rs12701034<li>R->K at 324: in dbSNP:rs35897481<li>A->V at 355: in dbSNP:rs12672119<li>M->V at 655: in dbSNP:rs10216063</ul>									<li>rs35897481</li><li>rs12672119</li><li>rs12701034</li><li>rs10216063</li><li>rs17159453</li><li>rs34357272</li>	2
Q4G0N8	285335	<ul><li>I->V at 158: in dbSNP:rs9828502<li>I->V at 286: in dbSNP:rs9872691<li>I->M at 348: in dbSNP:rs9809404<li>I->V at 364: in dbSNP:rs9809384<li>T->A at 424: in dbSNP:rs6768523<li>T->I at 705: in dbSNP:rs4434123<li>Q->K at 732: in dbSNP:rs6781844<li>S->I at 768: in dbSNP:rs9288938</ul>									<li>rs9809404</li><li>rs6781844</li><li>rs9288938</li><li>rs9828502</li><li>rs6768523</li><li>rs4434123</li><li>rs9809384</li><li>rs9872691</li>	2
Q4G0P3	54768	<ul><li>R->P at 451: in dbSNP:rs7200485<li>T->N at 584: in dbSNP:rs7200126<li>T->A at 690: in dbSNP:rs10744982<li>N->D at 724: in dbSNP:rs3817211<li>V->M at 1717: in dbSNP:rs783762<li>R->H at 1891: in dbSNP:rs783732<li>R->Q at 1951: in dbSNP:rs17321570<li>V->M at 2098: in dbSNP:rs1798337<li>Q->R at 2275: in dbSNP:rs1815707<li>E->G at 2305: in dbSNP:rs2502726<li>N->I at 2444: in dbSNP:rs1798532<li>L->S at 2501: in dbSNP:rs1798529<li>G->E at 2557: in dbSNP:rs8044142<li>K->R at 2588: in dbSNP:rs1774395<li>P->L at 2931: in dbSNP:rs11075812<li>E->K at 2936: in dbSNP:rs8047935<li>R->K at 2938: in dbSNP:rs7188837<li>E->G at 2993: in dbSNP:rs12102425<li>T->R at 3115: in dbSNP:rs1774423<li>Y->D at 3268: in dbSNP:rs7197263<li>R->H at 3810: in dbSNP:rs13338821<li>V->M at 3898: in dbSNP:rs1626593<li>A->T at 4025: in dbSNP:rs11075798<li>K->R at 4087: in dbSNP:rs1774416<li>H->Y at 4269: in dbSNP:rs1891343<li>G->S at 4519: in dbSNP:rs2292127<li>N->K at 4605: in dbSNP:rs783898</ul>									<li>rs783732</li><li>rs7200126</li><li>rs1774423</li><li>rs1626593</li><li>rs1798529</li><li>rs1798532</li><li>rs13338821</li><li>rs2292127</li><li>rs2502726</li><li>rs783898</li><li>rs8047935</li><li>rs783762</li><li>rs11075812</li><li>rs7188837</li><li>rs17321570</li><li>rs1798337</li><li>rs1815707</li><li>rs3817211</li><li>rs1774416</li><li>rs7197263</li><li>rs1891343</li><li>rs12102425</li><li>rs7200485</li><li>rs8044142</li><li>rs10744982</li><li>rs1774395</li><li>rs11075798</li>	2
Q4G0S4	339761	<ul><li>T->M at 359: in dbSNP:rs35075135</ul>									rs35075135	2
Q4G0U5	200373	<ul><li>I->V at 351: in dbSNP:rs2272058<li>M->I at 509: in dbSNP:rs11686014</ul>									<li>rs2272058</li><li>rs11686014</li>	2
Q4G0X9	55036	<ul><li>A->P at 8: in dbSNP:rs2289530</ul>									rs2289530	2
Q4G0Z9	157777	<ul><li>M->K at 132: in dbSNP:rs16933088<li>L->V at 317: in dbSNP:rs17332410<li>S->A at 578: in dbSNP:rs11778562</ul>									<li>rs11778562</li><li>rs17332410</li><li>rs16933088</li>	2
Q4G112		<ul><li>T->N at 329: in dbSNP:rs1017089</ul>									rs1017089	2
Q4G176	197322	<ul><li>P->L at 2: in dbSNP:rs7188200<li>A->P at 17: in dbSNP:rs11547019<li>V->M at 372: in dbSNP:rs3743979</ul>									<li>rs7188200</li><li>rs11547019</li><li>rs3743979</li>	2
Q4KMQ2	196527	<ul><li>A->T at 128: in dbSNP:rs2162321</ul>									rs2162321	2
Q4KMZ1	55721	<ul><li>F->C at 209: in dbSNP:rs3903683<li>C->Y at 217: in dbSNP:rs12032332<li>P->L at 464: in dbSNP:rs41306593</ul>									<li>rs3903683</li><li>rs12032332</li><li>rs41306593</li>	2
Q4L180	11259	<ul><li>R->H at 168: in dbSNP:rs793440<li>A->P at 884: in dbSNP:rs28362487</ul>									<li>rs28362487</li><li>rs793440</li>	2
Q4L235	132949	<ul><li>K->R at 368: in dbSNP:rs3796543<li>A->V at 747: in dbSNP:rs3796544<li>V->I at 774: in dbSNP:rs3796545<li>T->A at 865: in dbSNP:rs12498340<li>D->Y at 1030: in dbSNP:rs8340</ul>									<li>rs12498340</li><li>rs3796545</li><li>rs3796543</li><li>rs3796544</li><li>rs8340</li>	2
Q4LDE5	79987	<ul><li>G->A at 332: in dbSNP:rs3818764<li>G->S at 428: in dbSNP:rs10980419<li>V->I at 507: in dbSNP:rs872665<li>Q->H at 581: in dbSNP:rs10817033<li>I->V at 637: in dbSNP:rs13286541<li>K->R at 899: in dbSNP:rs10817025<li>I->V at 1157: in dbSNP:rs7038903<li>L->M at 1330: in dbSNP:rs10817021<li>K->Q at 1416: in dbSNP:rs1889323<li>M->L at 1444: in dbSNP:rs7863519<li>L->V at 1651: in dbSNP:rs7852962<li>E->A at 1813: in dbSNP:rs2986671<li>R->K at 1956: in dbSNP:rs17204832<li>T->A at 2610: in dbSNP:rs3802433<li>A->V at 2753: in dbSNP:rs7030192<li>I->V at 2925: in dbSNP:rs16914996<li>F->I at 3164: in dbSNP:rs3739451<li>P->T at 3233: in dbSNP:rs16914992<li>T->M at 3562: in dbSNP:rs17204533</ul>									<li>rs7863519</li><li>rs10980419</li><li>rs7030192</li><li>rs7852962</li><li>rs2986671</li><li>rs16914992</li><li>rs3739451</li><li>rs16914996</li><li>rs3818764</li><li>rs10817025</li><li>rs10817021</li><li>rs7038903</li><li>rs17204832</li><li>rs10817033</li><li>rs3802433</li><li>rs17204533</li><li>rs1889323</li><li>rs13286541</li><li>rs872665</li>	2
Q4LDR2	613212	<ul><li>E->V at 17: in dbSNP:rs248709<li>M->I at 23: in dbSNP:rs2280170</ul>									<li>rs248709</li><li>rs2280170</li>	2
Q4LEZ3	441376	<ul><li>G->R at 96: in dbSNP:rs16889283</ul>									rs16889283	2
Q4U2R6	51258	<ul><li>M->I at 102: in dbSNP:rs9526</ul>									rs9526	2
Q4U2R8	9356	<ul><li>L->P at 7<li>R->H at 50: lower Vmax; increase in substrate affinity and increase in the affinity for the nucleoside phosphonate analogs cidofovir, adefovir and tenofovir; dbSNP:rs11568626<li>P->L at 104: in dbSNP rsrs11568627<li>R->W at 293: increase in substrate affinity; dbSNP:rs45607933</ul>									<li>rs11568627</li><li>rs11568626</li><li>rs45607933</li>	2
Q4V9L6	338773	<ul><li>I->T at 72: in dbSNP:rs7975237</ul>									rs7975237	2
Q4VC05	605	<ul><li>N->T at 120: in dbSNP:rs34821485</ul>									rs34821485	2
Q4VC12	118490	<ul><li>L->P at 417: in dbSNP:rs11591720</ul>									rs11591720	2
Q4VNC0	344905	<ul><li>E->Q at 133: in dbSNP:rs6797429<li>G->S at 739: in dbSNP:rs2280268<li>I->V at 1053: in dbSNP:rs6787746<li>V->A at 1131: in dbSNP:rs2271791<li>K->Q at 1204: in dbSNP:rs7428010</ul>									<li>rs2280268</li><li>rs6797429</li><li>rs6787746</li><li>rs7428010</li><li>rs2271791</li>	2
Q4VNC1	84239	<ul><li>I->M at 181: in dbSNP:rs6788448<li>V->A at 353<li>E->D at 646: in dbSNP:rs35424709</ul>									<li>rs6788448</li><li>rs35424709</li>	2
Q4VX76	94120	<ul><li>P->S at 414: in dbSNP:rs901363<li>V->I at 540: in dbSNP:rs2291388<li>Q->L at 587: in dbSNP:rs3123101</ul>									<li>rs2291388</li><li>rs901363</li><li>rs3123101</li>	2
Q4VXU2	80336	<ul><li>S->A at 212: in dbSNP:rs2075960</ul>									rs2075960	2
Q4W5G0	166815	<ul><li>H->R at 475: in dbSNP:rs2280099</ul>									rs2280099	2
Q4W5P6	132332	<ul><li>V->A at 11: in dbSNP:rs4370153</ul>									rs4370153	2
Q4ZG55	9687	<ul><li>N->T at 77: in dbSNP:rs10929757<li>V->A at 122: in dbSNP:rs4669751<li>V->M at 346: in dbSNP:rs6744817<li>R->Q at 973: in dbSNP:rs3762579<li>Y->C at 1463: in dbSNP:rs11695925<li>D->N at 1687: in dbSNP:rs2304402<li>L->V at 1814: in dbSNP:rs34955282</ul>									<li>rs2304402</li><li>rs3762579</li><li>rs10929757</li><li>rs11695925</li><li>rs4669751</li><li>rs34955282</li><li>rs6744817</li>	2
Q4ZHG4	84624	<ul><li>T->A at 438: in dbSNP:rs509648<li>E->Q at 463: in dbSNP:rs420137<li>Q->E at 1003: in dbSNP:rs370434<li>D->E at 1180: in dbSNP:rs420054<li>P->L at 1261: in dbSNP:rs3003174<li>Q->R at 1280: in dbSNP:rs2501176<li>K->T at 1498: in dbSNP:rs386360<li>T->A at 1568: in dbSNP:rs7763726</ul>									<li>rs7763726</li><li>rs420054</li><li>rs386360</li><li>rs3003174</li><li>rs2501176</li><li>rs420137</li><li>rs509648</li><li>rs370434</li>	2
Q502W6	200403	<ul><li>R->W at 181: in dbSNP:rs2305355<li>V->L at 677: in dbSNP:rs7601049<li>M->V at 885: in dbSNP:rs11889349<li>D->E at 1223: in dbSNP:rs17428626<li>K->R at 1245: in dbSNP:rs7587534<li>T->I at 1277: in dbSNP:rs2271038</ul>									<li>rs7601049</li><li>rs2305355</li><li>rs2271038</li><li>rs17428626</li><li>rs7587534</li><li>rs11889349</li>	2
Q502X0		<ul><li>E->K at 48: in dbSNP:rs3099950</ul>									rs3099950	2
Q504Q3	9924	<ul><li>S->N at 32: in dbSNP:rs11558139<li>L->I at 179: in dbSNP:rs1918496<li>A->V at 1201: in a colorectal cancer sample; somatic mutation</ul>									<li>rs11558139</li><li>rs1918496</li>	2
Q504Y0	221074	<ul><li>S->G at 36: in dbSNP:rs10764176<li>T->M at 244: in dbSNP:rs7899328<li>I->V at 304: in dbSNP:rs2478568<li>F->L at 435: in dbSNP:rs11011935<li>P->T at 471: in a breast cancer sample; somatic mutation</ul>									<li>rs10764176</li><li>rs7899328</li><li>rs11011935</li><li>rs2478568</li>	2
Q504Y3	152098	<ul><li>L->Q at 202: in dbSNP:rs1563656</ul>									rs1563656	2
Q52LG2	337959	<ul><li>R->C at 26: in dbSNP:rs16986753<li>S->R at 74: in dbSNP:rs3804010</ul>									<li>rs3804010</li><li>rs16986753</li>	2
Q52LW3	9411	<ul><li>S->C at 552: in a breast cancer sample; somatic mutation<li>P->L at 1192: in dbSNP:rs11165091<li>G->D at 1255: in dbSNP:rs1999272</ul>									<li>rs1999272</li><li>rs11165091</li>	2
Q52M58	283598	<ul><li>R->W at 3: in dbSNP:rs17097718<li>V->A at 33: in dbSNP:rs4905757</ul>									<li>rs17097718</li><li>rs4905757</li>	2
Q52M62		<ul><li>T->A at 18: in dbSNP:rs3815685<li>T->M at 18: in dbSNP:rs11764<li>S->P at 126: in dbSNP:rs11765965<li>P->S at 157: in dbSNP:rs11769079<li>L->F at 206: in dbSNP:rs6974355</ul>									<li>rs11769079</li><li>rs11764</li><li>rs11765965</li><li>rs6974355</li><li>rs3815685</li>	2
Q52M75		<ul><li>R->C at 85: in dbSNP:rs17366761</ul>									rs17366761	2
Q52WX2	388228	<ul><li>R->H at 12: in dbSNP:rs35448675<li>K->E at 92: in an ovarian mucinous carcinoma sample; somatic mutation<li>N->T at 250: in dbSNP rsrs56072383<li>A->S at 261</ul>									<li>rs56072383</li><li>rs35448675</li>	2
Q53EL6	27250	<ul><li>V->I at 36: in dbSNP:rs7081726<li>S->Y at 48: in dbSNP:rs11548765<li>G->R at 120: in a breast cancer sample; somatic mutation</ul>									<li>rs7081726</li><li>rs11548765</li>	2
Q53EL9	124925	<ul><li>V->M at 300<li>A->V at 330<li>T->A at 546: in dbSNP:rs1976165<li>V->A at 592<li>Y->N at 736<li>L->V at 756<li>M->T at 806: in dbSNP:rs12941884</ul>									<li>rs1976165</li><li>rs12941884</li>	2
Q53EP0	64778	<ul><li>T->S at 179: in dbSNP:rs7652177<li>P->S at 927: in a breast cancer sample; somatic mutation<li>M->V at 1080: in dbSNP:rs2276806</ul>									<li>rs2276806</li><li>rs7652177</li>	2
Q53EQ6		<ul><li>I->M at 519: in dbSNP:rs10282929</ul>									rs10282929	2
Q53ET0	200186	<ul><li>M->V at 147: in dbSNP:rs11264680<li>R->C at 379</ul>									rs11264680	2
Q53EV4	10233	<ul><li>N->H at 65: in dbSNP:rs2071072<li>R->L at 124: in dbSNP:rs2071073<li>V->E at 317: in dbSNP:rs1057077</ul>									<li>rs2071073</li><li>rs2071072</li><li>rs1057077</li>	2
Q53EZ4	55165	<ul><li>H->Q at 57: in dbSNP:rs3740370<li>A->T at 99: in dbSNP:rs7080916<li>L->H at 378: in dbSNP:rs2293277</ul>									<li>rs7080916</li><li>rs2293277</li><li>rs3740370</li>	2
Q53F39	65258	<ul><li>R->Q at 138: in dbSNP:rs11872520<li>V->M at 197: in dbSNP:rs35611363<li>A->P at 268: in dbSNP:rs662515<li>M->L at 336: in dbSNP:rs16976814</ul>									<li>rs662515</li><li>rs16976814</li><li>rs11872520</li><li>rs35611363</li>	2
Q53FA7	9540	<ul><li>M->K at 180: in a breast cancer sample; somatic mutation<li>E->K at 223: in dbSNP:rs35176319</ul>									rs35176319	2
Q53FE4	84103	<ul><li>G->E at 64: in dbSNP:rs13143848<li>S->P at 85: in dbSNP:rs13119384<li>E->K at 91: in dbSNP:rs17029087</ul>									<li>rs17029087</li><li>rs13143848</li><li>rs13119384</li>	2
Q53FT3	51501	<ul><li>P->A at 47: in dbSNP:rs11539213</ul>									rs11539213	2
Q53FZ2	6296	<ul><li>L->P at 100: in dbSNP:rs5713<li>D->H at 270: in dbSNP:rs13306603<li>P->T at 308: in dbSNP:rs7196188<li>K->N at 367: in dbSNP:rs5716</ul>									<li>rs7196188</li><li>rs5716</li><li>rs13306603</li><li>rs5713</li>	2
Q53G44	10964	<ul><li>H->R at 73: in dbSNP:rs273259<li>A->T at 104: in dbSNP:rs34932081<li>R->C at 148: in dbSNP:rs273258<li>V->I at 217: in dbSNP:rs3820093<li>I->T at 235: in dbSNP:rs987495<li>R->C at 296: in dbSNP:rs1981071<li>M->I at 390: in dbSNP:rs35466823</ul>									<li>rs273259</li><li>rs273258</li><li>rs35466823</li><li>rs1981071</li><li>rs987495</li><li>rs34932081</li><li>rs3820093</li>	2
Q53G59	59349	<ul><li>P->L at 72: in dbSNP:rs12569087</ul>									rs12569087	2
Q53GD3	80736	<ul><li>R->L at 6: in dbSNP:rs2075798<li>D->V at 123: in dbSNP:rs12661281<li>G->E at 128: in dbSNP:rs17856465<li>I->V at 187: in dbSNP:rs2242665<li>V->M at 326: in dbSNP:rs644827<li>A->T at 347: in a colorectal cancer sample; somatic mutation<li>T->M at 411: in a colorectal cancer sample; somatic mutation<li>R->C at 493: in dbSNP:rs6915800</ul>									<li>rs12661281</li><li>rs17856465</li><li>rs2242665</li><li>rs2075798</li><li>rs644827</li><li>rs6915800</li>	2
Q53GG5	27295	<ul><li>V->M at 127: in dbSNP:rs11944325</ul>									rs11944325	2
Q53GI3	84124	<ul><li>T->M at 325: in dbSNP:rs3735454</ul>									rs3735454	2
Q53GL0	51177	<ul><li>P->A at 21: in dbSNP:rs2306235</ul>									rs2306235	2
Q53GL7	84875	<ul><li>I->V at 249: in dbSNP:rs11136344<li>L->P at 395: in dbSNP:rs11136343<li>V->A at 630: in dbSNP:rs11544989</ul>									<li>rs11544989</li><li>rs11136344</li><li>rs11136343</li>	2
Q53GQ0	51144	<ul><li>S->L at 280: in dbSNP:rs11555762</ul>									rs11555762	2
Q53GS7	2733	<ul><li>G->D at 130: in dbSNP:rs17852725<li>T->TPFQ at 144: in LCCS1; allele Fin<li>I->V at 243: in dbSNP:rs2275260<li>R->H at 569: in LCCS1, MIM: 253310<li>R->Q at 590: in dbSNP:rs17856852, MIM: 253310<li>V->M at 617: in LAAHD, MIM: 611890<li>I->T at 684: in LAAHD, MIM: 611890</ul>								<li>Lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]</li><li>Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]</li>	<li>rs17856852</li><li>rs17852725</li><li>rs2275260</li>	2
Q53H12	55750	<ul><li>V->M at 3: in dbSNP:rs10262855</ul>									rs10262855	2
Q53H54	55039	<ul><li>W->R at 28: in dbSNP:rs3812475</ul>									rs3812475	2
Q53H76	51365	<ul><li>S->I at 23: in dbSNP:rs11929241<li>R->H at 110<li>S->N at 284: in dbSNP:rs2692622</ul>									<li>rs2692622</li><li>rs11929241</li>	2
Q53H96	65263	<ul><li>R->Q at 57: in dbSNP:rs11549789<li>V->M at 105: in dbSNP:rs2242089<li>N->K at 150: in dbSNP:rs2242090</ul>									<li>rs2242090</li><li>rs2242089</li><li>rs11549789</li>	2
Q53HC0	80212	<ul><li>S->C at 70: in dbSNP:rs11057401<li>A->T at 253: in dbSNP:rs35935939<li>R->H at 281: in dbSNP:rs17886730</ul>									<li>rs17886730</li><li>rs35935939</li><li>rs11057401</li>	2
Q53HC5	55295	<ul><li>V->M at 542: in dbSNP:rs17852384</ul>									rs17852384	2
Q53HL2	55143	<ul><li>K->N at 12: in dbSNP:rs17851453</ul>									rs17851453	2
Q53HV7	23583	<ul><li>G->V at 15: in dbSNP:rs2233920<li>R->W at 105: in dbSNP:rs3136389</ul>									<li>rs2233920</li><li>rs3136389</li>	2
Q53QW1	165100	<ul><li>V->L at 11: in dbSNP:rs16828251<li>Q->R at 79: in dbSNP:rs16828254<li>E->K at 168: in dbSNP:rs16828257<li>S->P at 261: in dbSNP:rs10933378</ul>									<li>rs16828257</li><li>rs16828254</li><li>rs16828251</li><li>rs10933378</li>	2
Q53R12	79853	<ul><li>A->V at 27: in dbSNP:rs7574414</ul>									rs7574414	2
Q53R41	79675	<ul><li>E->Q at 384: in dbSNP:rs12618227<li>C->G at 446: in dbSNP:rs35106223<li>M->V at 467: in dbSNP:rs2253680</ul>									<li>rs2253680</li><li>rs35106223</li><li>rs12618227</li>	2
Q53RD9	129804	<ul><li>V->M at 119: in dbSNP:rs35586251</ul>									rs35586251	2
Q53RE8	51239	<ul><li>A->T at 113: in dbSNP:rs17852947</ul>									rs17852947	2
Q53RT3	151516	<ul><li>T->A at 49: in dbSNP:rs3796097</ul>									rs3796097	2
Q53S58	80775	<ul><li>G->A at 29: in dbSNP:rs11684353<li>I->V at 32: in dbSNP:rs13011768<li>D->E at 267: in dbSNP:rs1983406</ul>									<li>rs13011768</li><li>rs1983406</li><li>rs11684353</li>	2
Q53S99	56918	<ul><li>E->Q at 104: in dbSNP:rs2138402</ul>									rs2138402	2
Q53SZ7	339779	<ul><li>R->G at 194: in dbSNP:rs17855664<li>R->C at 222: in dbSNP:rs3739097</ul>									<li>rs17855664</li><li>rs3739097</li>	2
Q53T59	64342	<ul><li>V->M at 260: in dbSNP:rs2305458<li>G->R at 273: in dbSNP:rs35589938<li>P->R at 348: in dbSNP:rs35579164<li>A->T at 388: in dbSNP:rs3732149</ul>									<li>rs2305458</li><li>rs35589938</li><li>rs3732149</li><li>rs35579164</li>	2
Q53T94	9014	<ul><li>A->S at 6: in dbSNP:rs2303914<li>V->I at 282: in dbSNP:rs396190<li>T->A at 351: in dbSNP:rs1054565<li>E->D at 462: in dbSNP:rs1820965<li>T->M at 487: in dbSNP:rs16867245</ul>									<li>rs1820965</li><li>rs2303914</li><li>rs1054565</li><li>rs16867245</li><li>rs396190</li>	2
Q53TN4	79901	<ul><li>M->T at 156: in dbSNP:rs16859487<li>R->H at 226: in HFE<li>S->N at 266: in dbSNP:rs10455</ul>							<li>Q9GL41</li><li>Q9GL42</li><li>Q9GL43</li><li>Q9GKZ0</li><li>P60018</li><li>Q30201</li>		<li>rs10455</li><li>rs16859487</li>	2
Q53TQ3	54891	<ul><li>A->V at 358: in dbSNP:rs2909111</ul>									rs2909111	2
Q53TS8	151254	<ul><li>K->M at 123: in a colorectal cancer sample; somatic mutation<li>H->Q at 376: in dbSNP:rs10804117</ul>									rs10804117	2
Q562F6	151246	<ul><li>G->D at 9: in dbSNP:rs1036533<li>I->V at 496: in dbSNP:rs17448235</ul>									<li>rs1036533</li><li>rs17448235</li>	2
Q567U6	54520	<ul><li>R->C at 179: in dbSNP:rs33975708<li>R->C at 213: in dbSNP:rs34095554<li>P->L at 228: in dbSNP:rs17512204<li>H->R at 315: in a colorectal cancer sample; somatic mutation<li>Y->H at 465: in dbSNP:rs17047557</ul>									<li>rs17047557</li><li>rs33975708</li><li>rs17512204</li><li>rs34095554</li>	2
Q569K4	151126	<ul><li>S->G at 242: in dbSNP:rs2271761</ul>									rs2271761	2
Q569K6	550631	<ul><li>P->L at 191: in dbSNP:rs12167903<li>S->A at 587: in dbSNP:rs2015035</ul>									<li>rs12167903</li><li>rs2015035</li>	2
Q56NI9	157570	<ul><li>A->V at 80: in dbSNP:rs4732748<li>W->G at 539: in RBS, MIM: 268300</ul>								Roberts syndrome (RBS) [MIM:268300]	rs4732748	2
Q56P03	55837	<ul><li>Q->E at 168: in dbSNP:rs17856038</ul>									rs17856038	2
Q56P42	152138	<ul><li>Q->R at 81: in dbSNP:rs293833</ul>									rs293833	2
Q56UN5	80122	<ul><li>T->I at 438: in dbSNP:rs16831235<li>I->M at 500: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>E->Q at 676: in dbSNP:rs1112542<li>E->G at 812: in dbSNP:rs3905317</ul>									<li>rs1112542</li><li>rs3905317</li><li>rs16831235</li>	2
Q56VL3	132299	<ul><li>R->Q at 44: in dbSNP:rs7676916</ul>									rs7676916	2
Q580R0	29798	<ul><li>P->L at 203: in dbSNP:rs1056219</ul>									rs1056219	2
Q587I9	84826	<ul><li>R->G at 38: in dbSNP:rs10206957</ul>									rs10206957	2
Q587J8	154288	<ul><li>E->Q at 97: in dbSNP:rs564533<li>A->G at 201: in dbSNP:rs561930</ul>									<li>rs561930</li><li>rs564533</li>	2
Q58DX5	254827	<ul><li>G->S at 68: in dbSNP:rs9823911<li>I->M at 128: in dbSNP:rs9836841<li>M->T at 194: in dbSNP:rs4371530<li>S->P at 385: in dbSNP:rs6802937<li>R->P at 622: in dbSNP:rs9866564<li>S->L at 677: in dbSNP:rs9826737</ul>									<li>rs4371530</li><li>rs6802937</li><li>rs9866564</li><li>rs9823911</li><li>rs9836841</li><li>rs9826737</li>	2
Q58EX7	25894	<ul><li>T->I at 412: in dbSNP:rs11860295<li>D->G at 525: in dbSNP:rs8044843<li>R->H at 830: in dbSNP:rs3868142<li>S->T at 1090: in dbSNP:rs17680862</ul>									<li>rs3868142</li><li>rs8044843</li><li>rs11860295</li><li>rs17680862</li>	2
Q58F21	676	<ul><li>S->F at 2: in dbSNP:rs55806733<li>R->Q at 6: in dbSNP:rs56273490<li>Q->K at 62: in dbSNP:rs10783071<li>A->V at 89: in a gastric adenocarcinoma sample; somatic mutation<li>K->N at 238: in dbSNP:rs1156281<li>H->Y at 288: in a lung neuroendocrine carcinoma sample; somatic mutation<li>K->T at 336: in dbSNP:rs1064567<li>E->K at 357: in dbSNP:rs34674879<li>N->K at 410: in dbSNP:rs3088232<li>P->A at 542: in dbSNP:rs55912588<li>R->Q at 605: in dbSNP:rs35327986<li>P->L at 696: in dbSNP:rs10747493</ul>									<li>rs1156281</li><li>rs55912588</li><li>rs10747493</li><li>rs10783071</li><li>rs1064567</li><li>rs3088232</li><li>rs34674879</li><li>rs56273490</li><li>rs35327986</li><li>rs55806733</li>	2
Q58G82	401135	<ul><li>T->M at 97: in dbSNP:rs3819257</ul>									rs3819257	2
Q58WW2	55827	<ul><li>V->A at 547: in dbSNP:rs11558511</ul>									rs11558511	2
Q59H18	51086	<ul><li>D->H at 252<li>P->L at 364<li>F->L at 410<li>S->L at 531: in a colorectal adenocarcinoma sample; somatic mutation<li>V->L at 611<li>R->G at 730: in a colorectal cancer sample; somatic mutation<li>T->M at 738<li>I->T at 787<li>A->G at 886<li>M->I at 899: in a head & Neck squamous cell carcinoma sample; somatic mutation<li>D->Y at 934</ul>										2
Q5BIV9	503542	<ul><li>T->M at 7: in dbSNP:rs2492666</ul>									rs2492666	2
Q5BJE1	374864	<ul><li>A->T at 42: in dbSNP:rs12606658<li>V->E at 465: in dbSNP:rs9965081<li>L->R at 600: in dbSNP:rs457896<li>D->N at 601: in dbSNP:rs466113</ul>									<li>rs9965081</li><li>rs457896</li><li>rs466113</li><li>rs12606658</li>	2
Q5BJF6	4957	<ul><li>T->S at 710: in dbSNP:rs16930426</ul>									rs16930426	2
Q5BJH7	90522	<ul><li>P->S at 56: in dbSNP:rs11556992</ul>									rs11556992	2
Q5BKX6		<ul><li>P->L at 277: in dbSNP:rs753778<li>N->D at 718: in dbSNP:rs3739238</ul>									<li>rs753778</li><li>rs3739238</li>	2
Q5BVD1	79669	<ul><li>I->V at 111: in dbSNP:rs16859190<li>S->G at 144: in dbSNP:rs340167</ul>									<li>rs340167</li><li>rs16859190</li>	2
Q5C9Z4	64434	<ul><li>H->P at 122: in dbSNP:rs6952214<li>M->V at 723: in dbSNP:rs12919<li>R->H at 779: in dbSNP:rs2302445<li>V->L at 804: in dbSNP:rs2302443<li>V->M at 812: in dbSNP:rs12919</ul>									<li>rs6952214</li><li>rs2302443</li><li>rs12919</li><li>rs2302445</li>	2
Q5CZC0		<ul><li>M->V at 104: in dbSNP:rs9808218</ul>									rs9808218	2
Q5D0E6	55152	<ul><li>R->Q at 299: in dbSNP:rs3087866</ul>									rs3087866	2
Q5D1E8	80149	<ul><li>V->M at 240: in dbSNP:rs16824179<li>G->D at 547: in dbSNP:rs17849897</ul>									<li>rs17849897</li><li>rs16824179</li>	2
Q5D862	388698	<ul><li>L->F at 41: in dbSNP:rs3818831<li>R->Q at 107: in dbSNP:rs2282304<li>G->E at 137: in dbSNP:rs6587667<li>R->Q at 276: in dbSNP:rs2282303<li>C->S at 298: in dbSNP:rs2282302<li>E->K at 723: in dbSNP:rs16842865<li>Y->S at 881: in dbSNP:rs12411129<li>H->R at 1249: in dbSNP:rs16833974<li>E->D at 1992: in dbSNP:rs1858484<li>Q->H at 2239: in dbSNP:rs12736606</ul>									<li>rs16842865</li><li>rs12736606</li><li>rs2282302</li><li>rs2282303</li><li>rs2282304</li><li>rs3818831</li><li>rs6587667</li><li>rs1858484</li><li>rs16833974</li><li>rs12411129</li>	2
Q5DID0	89766	<ul><li>V->L at 173<li>N->D at 274: in dbSNP rsrs17114359<li>N->H at 274<li>R->Q at 447<li>M->T at 559: in dbSNP rsrs220126<li>I->T at 639: in dbSNP rsrs220129<li>T->P at 698: in dbSNP rsrs220130<li>V->I at 850: in dbSNP rsrs220146<li>S->N at 1027<li>G->S at 1068<li>E->K at 1115<li>D->N at 1208: in dbSNP rsrs220159<li>N->H at 1309: in dbSNP rsrs3819142</ul>									<li>rs220130</li><li>rs220129</li><li>rs220159</li><li>rs220146</li><li>rs220126</li><li>rs17114359</li><li>rs3819142</li>	2
Q5DX21	152404	<ul><li>T->P at 39: in dbSNP:rs2903250<li>E->D at 333: in dbSNP:rs36052974</ul>									<li>rs2903250</li><li>rs36052974</li>	2
Q5EG05	114769	<ul><li>R->S at 33: in dbSNP:rs35966314<li>Q->K at 37: in dbSNP:rs1042744<li>A->D at 56: in dbSNP:rs34534919<li>N->I at 167: in dbSNP:rs542571</ul>									<li>rs35966314</li><li>rs542571</li><li>rs1042744</li><li>rs34534919</li>	2
Q5F1R6	134218	<ul><li>D->N at 214: in a breast cancer sample; somatic mutation</ul>										2
Q5FBB7	151648	<ul><li>V->A at 171: in dbSNP:rs6806241<li>Q->P at 322: in dbSNP:rs9868701</ul>									<li>rs9868701</li><li>rs6806241</li>	2
Q5FVE4	81616	<ul><li>A->V at 143: in dbSNP:rs4807840<li>K->R at 152: in dbSNP:rs33937754<li>G->D at 584: in dbSNP:rs17851959<li>G->D at 586: in dbSNP:rs17851960<li>P->R at 601: in dbSNP:rs35609668<li>R->K at 624: in dbSNP:rs17856650<li>E->Q at 626: in dbSNP:rs17856651<li>R->S at 650: in dbSNP:rs35605352</ul>									<li>rs33937754</li><li>rs4807840</li><li>rs35605352</li><li>rs35609668</li><li>rs17851960</li><li>rs17851959</li><li>rs17856650</li><li>rs17856651</li>	2
Q5FWE3	285368	<ul><li>Q->E at 138: in dbSNP:rs279601<li>L->I at 860: in dbSNP:rs2279794</ul>									<li>rs279601</li><li>rs2279794</li>	2
Q5FWF4	84083	<ul><li>E->K at 541: in dbSNP:rs935615<li>R->Q at 546: in dbSNP:rs7608121</ul>									<li>rs935615</li><li>rs7608121</li>	2
Q5FWF5	114799	<ul><li>N->S at 191: in dbSNP:rs35087820<li>T->M at 221: in dbSNP:rs13381941</ul>									<li>rs13381941</li><li>rs35087820</li>	2
Q5FWF6	285989	<ul><li>T->A at 77: in dbSNP:rs6962772</ul>									rs6962772	2
Q5FWF7	554251	<ul><li>T->I at 16: in dbSNP:rs12614904</ul>									rs12614904	2
Q5FYB0	79642	<ul><li>S->R at 565: in dbSNP:rs17046588</ul>									rs17046588	2
Q5GAN3	440163	<ul><li>S->A at 139: in dbSNP:rs2277847</ul>									rs2277847	2
Q5GAN6	338879	<ul><li>S->N at 131: in dbSNP:rs2067648</ul>									rs2067648	2
Q5GFL6	340706	<ul><li>A->T at 9: in dbSNP:rs9664945<li>E->G at 131: in dbSNP:rs597371<li>L->R at 137: in a colorectal cancer sample; somatic mutation</ul>									<li>rs9664945</li><li>rs597371</li>	2
Q5GH77	150165	<ul><li>T->M at 143: in dbSNP:rs5748648<li>P->L at 232: in dbSNP:rs9605146<li>F->L at 255: in dbSNP:rs5748623<li>H->N at 442: in dbSNP:rs5748622</ul>									<li>rs5748622</li><li>rs9605146</li><li>rs5748648</li><li>rs5748623</li>	2
Q5GJ75	388121	<ul><li>A->T at 38: in dbSNP:rs17647084</ul>									rs17647084	2
Q5H8A3	129521	<ul><li>P->S at 6: in dbSNP:rs13411940</ul>									rs13411940	2
Q5H8A4	54872	<ul><li>R->H at 458: in dbSNP:rs13115344<li>C->R at 610: in dbSNP:rs7666425<li>V->I at 699: in dbSNP:rs13114026<li>F->S at 932: in dbSNP:rs1127410</ul>									<li>rs1127410</li><li>rs13115344</li><li>rs7666425</li><li>rs13114026</li>	2
Q5H8C1	158326	<ul><li>V->L at 439: in dbSNP:rs2779500<li>I->V at 499: in dbSNP:rs1353223<li>S->Y at 803: in dbSNP:rs7023244<li>L->V at 863: in dbSNP:rs7041710<li>S->R at 1202: in dbSNP:rs16932300<li>D->E at 1273: in dbSNP:rs7025814<li>V->M at 1502: in dbSNP:rs10961700<li>N->I at 1576: in dbSNP:rs2101770<li>Q->P at 2143: in dbSNP:rs10961689<li>V->G at 2174: in dbSNP:rs17856912</ul>									<li>rs17856912</li><li>rs7023244</li><li>rs10961689</li><li>rs2779500</li><li>rs1353223</li><li>rs7041710</li><li>rs7025814</li><li>rs2101770</li><li>rs10961700</li><li>rs16932300</li>	2
Q5H9F3	63035	<ul><li>G->S at 209: in dbSNP:rs5932715<li>G->D at 832: in a breast cancer sample; somatic mutation</ul>									rs5932715	2
Q5H9K5	84460	<ul><li>R->K at 214: in dbSNP:rs17282855</ul>									rs17282855	2
Q5H9L4	54457	<ul><li>L->P at 34: in dbSNP:rs5951328<li>E->K at 61<li>S->G at 308: in dbSNP:rs35899692<li>Missing at 350-351<li>R->H at 458: in dbSNP:rs41310729</ul>									<li>rs5951328</li><li>rs41310729</li><li>rs35899692</li>	2
Q5H9R4		<ul><li>R->G at 188: in dbSNP:rs5951332</ul>									rs5951332	2
Q5H9S7	80067	<ul><li>H->Q at 185: in dbSNP:rs3731984</ul>									rs3731984	2
Q5H9T9	84075	<ul><li>T->R at 262: in a breast cancer sample; somatic mutation<li>Q->K at 776: in a breast cancer sample; somatic mutation<li>S->L at 787: in a breast cancer sample; somatic mutation</ul>										2
Q5HY64	442444	<ul><li>N->T at 924: in dbSNP:rs1995914</ul>									rs1995914	2
Q5HY92	55137	<ul><li>S->L at 96: in dbSNP:rs2231902<li>R->C at 448: in dbSNP:rs2231904<li>K->R at 565: in dbSNP:rs2231905</ul>									<li>rs2231902</li><li>rs2231904</li><li>rs2231905</li>	2
Q5HY98	90321	<ul><li>C->Y at 95: in dbSNP:rs12462608</ul>									rs12462608	2
Q5HYA8	91147	<ul><li>Q->P at 376: in MKS3, MIM: 607361<li>Y->C at 513: in JBTS6, MIM: 610688<li>G->E at 545: in JBTS6, MIM: 610688<li>V->I at 604: in dbSNP:rs3134031, MIM: 610688</ul>							Q5HYA8	<li>Joubert syndrome type 6 (JBTS6) [MIM:610688]</li><li>Meckel syndrome type 3 (MKS3) [MIM:607361]</li>	rs3134031	2
Q5HYI7	345778	<ul><li>S->R at 238: in dbSNP:rs9293796</ul>									rs9293796	2
Q5HYK3	84274	<ul><li>A->T at 152: in dbSNP:rs3742049</ul>									rs3742049	2
Q5HYK9	63934	<ul><li>P->L at 134: in dbSNP:rs35914474<li>K->R at 260: in dbSNP:rs3760849<li>T->A at 540: in dbSNP:rs12610019</ul>									<li>rs12610019</li><li>rs3760849</li><li>rs35914474</li>	2
Q5HYW2	340527	<ul><li>T->I at 535: in dbSNP:rs7061150</ul>									rs7061150	2
Q5HYW3	340526	<ul><li>S->R at 420: in dbSNP:rs6624595</ul>									rs6624595	2
Q5I0G3	130752	<ul><li>E->D at 510: in dbSNP:rs2287631<li>T->A at 515: in dbSNP:rs2287632</ul>									<li>rs2287632</li><li>rs2287631</li>	2
Q5I7T1	144245	<ul><li>G->A at 84: in dbSNP:rs6582584<li>I->V at 446: in some patients with drug-induced cardiac repolarization defects; exerts a greater protective effect, relative to wild-type, against drug blockage of KCNH2 potassium channel</ul>							<li>Q9TSZ3</li><li>Q9PT84</li><li>O08703</li><li>Q12809</li><li>Q8WNY2</li><li>Q9TUI4</li>		rs6582584	2
Q5IJ48	286204	<ul><li>P->L at 46: in a patient with Leber congenital amaurosis; pathogenicity not very likely<li>T->N at 90: in dbSNP:rs2808415<li>V->L at 97: in a patient with Leber congenital amaurosis; pathogenicity not very likely<li>P->L at 116: in a patient with Leber congenital amaurosis; pathogenicity not very likely<li>M->T at 145: in dbSNP:rs1105223<li>G->A at 159: in dbSNP:rs1105222<li>E->D at 187: in a patient with Leber congenital amaurosis; pathogenicity not very likely<li>A->T at 351: in RP; pathogenicity not very likely but cannot completely be ruled out, MIM: 268000<li>R->Q at 534: in RP; detected in a patient with autosomal dominant RP but the patient has a causative mutation in one of the known autosomal dominant RP gene, MIM: 268000<li>R->W at 610, MIM: 268000<li>H->Q at 746, MIM: 268000<li>T->M at 1110, MIM: 268000</ul>								Retinitis pigmentosa (RP) [MIM:268000]	<li>rs1105222</li><li>rs1105223</li><li>rs2808415</li>	2
Q5J8M3	51234	<ul><li>P->T at 98: in dbSNP:rs11544437</ul>									rs11544437	2
Q5JNZ3	282890	<ul><li>R->C at 486: in dbSNP:rs9295783<li>K->Q at 511: in dbSNP:rs6456880</ul>									<li>rs6456880</li><li>rs9295783</li>	2
Q5JPB2	128611	<ul><li>G->R at 845: in dbSNP:rs181984<li>S->P at 1513: in dbSNP:rs259956</ul>									<li>rs181984</li><li>rs259956</li>	2
Q5JPE7	283820	<ul><li>D->N at 490: in dbSNP:rs17435353<li>V->M at 493: in dbSNP:rs17425492<li>V->M at 580: in dbSNP:rs15984<li>N->K at 726: in dbSNP:rs370986</ul>									<li>rs17435353</li><li>rs17425492</li><li>rs370986</li><li>rs15984</li>	2
Q5JPH6	124454	<ul><li>S->G at 457: in dbSNP:rs6497671</ul>									rs6497671	2
Q5JPI9	399818	<ul><li>R->Q at 67: in dbSNP:rs4347339</ul>									rs4347339	2
Q5JQC9	8852	<ul><li>H->R at 233: in dbSNP:rs17174078<li>A->G at 673: in dbSNP:rs12012704</ul>									<li>rs12012704</li><li>rs17174078</li>	2
Q5JQD4		<ul><li>T->I at 28: in dbSNP:rs5953365</ul>									rs5953365	2
Q5JQF7	729583	<ul><li>E->G at 41: in dbSNP:rs2071790</ul>									rs2071790	2
Q5JQS5	127623	<ul><li>V->M at 198: in dbSNP:rs6695302<li>G->D at 223: in dbSNP:rs4925663<li>T->I at 293: in dbSNP:rs12065526<li>D->G at 300: in dbSNP:rs12070953</ul>									<li>rs12065526</li><li>rs4925663</li><li>rs6695302</li><li>rs12070953</li>	2
Q5JR12	333926	<ul><li>L->F at 213: in dbSNP:rs34611728<li>V->I at 236: in dbSNP:rs10857971</ul>									<li>rs34611728</li><li>rs10857971</li>	2
Q5JRA6	375056	<ul><li>K->E at 482: in dbSNP:rs2936053<li>K->R at 605: in dbSNP:rs2936052<li>E->G at 881: in dbSNP:rs2936051<li>G->C at 1659: in dbSNP:rs17857325<li>K->E at 1723: in dbSNP:rs17854428</ul>									<li>rs2936051</li><li>rs17857325</li><li>rs2936053</li><li>rs2936052</li><li>rs17854428</li>	2
Q5JRM2	347487	<ul><li>P->L at 233: in dbSNP:rs5955139</ul>									rs5955139	2
Q5JRS4	441911	<ul><li>Q->R at 235: in dbSNP:rs11265165</ul>									rs11265165	2
Q5JRV8	55026	<ul><li>P->Q at 345: in dbSNP:rs17854410</ul>									rs17854410	2
Q5JRX3	10531	<ul><li>Q->R at 8: in dbSNP:rs11818724<li>L->V at 145: in dbSNP:rs9423502<li>F->S at 169: in dbSNP:rs3814596<li>V->I at 328: in dbSNP:rs4242746<li>V->A at 397: in dbSNP:rs3182535<li>Q->H at 516: in dbSNP:rs3765101<li>V->I at 621: in dbSNP:rs2388556<li>I->M at 952: in dbSNP:rs2279219<li>V->I at 963: in dbSNP:rs17849904<li>P->L at 969: in dbSNP:rs2279218<li>R->Q at 1037: in dbSNP:rs6901</ul>									<li>rs6901</li><li>rs4242746</li><li>rs11818724</li><li>rs3814596</li><li>rs2388556</li><li>rs3765101</li><li>rs9423502</li><li>rs2279218</li><li>rs2279219</li><li>rs17849904</li><li>rs3182535</li>	2
Q5JS37	387921	<ul><li>L->R at 221: in dbSNP:rs9603498</ul>									rs9603498	2
Q5JSH3	54521	<ul><li>A->T at 289: in dbSNP:rs17271416<li>T->A at 296: in dbSNP:rs17855531</ul>									<li>rs17271416</li><li>rs17855531</li>	2
Q5JSL3	139818	<ul><li>I->F at 813: in dbSNP:rs16995229</ul>									rs16995229	2
Q5JSP0	89846	<ul><li>V->I at 275: in dbSNP:rs3802384</ul>									rs3802384	2
Q5JSS6	644890	<ul><li>K->T at 9: in dbSNP:rs4750568</ul>									rs4750568	2
Q5JST6	80258	<ul><li>N->S at 31: in dbSNP:rs17146914<li>E->K at 208: in dbSNP:rs7062352<li>S->Y at 430: in dbSNP:rs2208592<li>E->Q at 507: in dbSNP:rs3747354</ul>									<li>rs17146914</li><li>rs3747354</li><li>rs2208592</li><li>rs7062352</li>	2
Q5JSZ5		<ul><li>S->T at 936: in dbSNP:rs10736851<li>L->P at 981: in dbSNP:rs10751478</ul>									<li>rs10736851</li><li>rs10751478</li>	2
Q5JT82	128209	<ul><li>I->N at 35: in dbSNP:rs11210969<li>S->T at 57: in dbSNP:rs2429051<li>Q->H at 80: in dbSNP:rs6656945<li>N->S at 156: in dbSNP:rs2485652</ul>									<li>rs11210969</li><li>rs2429051</li><li>rs2485652</li><li>rs6656945</li>	2
Q5JTC6	139285	<ul><li>F->L at 159: in dbSNP:rs34677493<li>A->S at 278: in dbSNP:rs35718712<li>K->N at 292: in WT</ul>									<li>rs34677493</li><li>rs35718712</li>	2
Q5JTN6	401551	<ul><li>H->R at 172: in dbSNP:rs2274970<li>A->G at 193: in dbSNP:rs10760381</ul>									<li>rs10760381</li><li>rs2274970</li>	2
Q5JTV8	26092	<ul><li>M->T at 146: in dbSNP:rs1281378<li>V->I at 190: in a breast cancer sample; somatic mutation<li>P->R at 276: in dbSNP:rs609521<li>Q->H at 293: in dbSNP:rs17279712</ul>									<li>rs1281378</li><li>rs17279712</li><li>rs609521</li>	2
Q5JTZ9	57505	<ul><li>I->V at 339: in dbSNP:rs324136<li>A->D at 484: in dbSNP:rs495294</ul>									<li>rs324136</li><li>rs495294</li>	2
Q5JU00	202500	<ul><li>P->L at 35: in dbSNP:rs324146<li>H->R at 53: in dbSNP:rs17853373<li>F->S at 261: in dbSNP:rs2297336</ul>									<li>rs2297336</li><li>rs17853373</li><li>rs324146</li>	2
Q5JU67	286207	<ul><li>Y->S at 483: in dbSNP:rs497632</ul>									rs497632	2
Q5JUK2	402381	<ul><li>Q->R at 37: in dbSNP:rs471525<li>S->P at 269: in dbSNP:rs3119932</ul>									<li>rs471525</li><li>rs3119932</li>	2
Q5JUK9	139793	<ul><li>N->D at 35: in dbSNP:rs4826381<li>G->S at 53: in dbSNP:rs2296807</ul>									<li>rs2296807</li><li>rs4826381</li>	2
Q5JV21		<ul><li>K->E at 74: in dbSNP:rs997769<li>K->T at 74: in dbSNP:rs997389</ul>									<li>rs997769</li><li>rs997389</li>	2
Q5JVG2	83744	<ul><li>G->D at 502: in dbSNP:rs3739602</ul>									rs3739602	2
Q5JVL4	114327	<ul><li>P->T at 77: in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770<li>R->W at 159: no effect on cell death; binds to CACNA1E; dbSNP:rs3804506, MIM: 254770<li>I->V at 174: in JAE, MIM: 607631<li>R->H at 182: no effect on cell death; binds to CACNA1E; dbSNP:rs3804505, MIM: 607631<li>D->N at 210: in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770<li>R->H at 221: in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770<li>F->L at 229: in EJM1; uncertain pathological significance; reduces substantially the cell death effect; reduces significantly the calcium influx; binds to CACNA1E, MIM: 254770<li>D->Y at 253: in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770<li>C->Y at 259: in JAE, MIM: 607631<li>R->I at 285: in dbSNP:rs17851771, MIM: 607631<li>R->H at 294: in dbSNP:rs1570624, MIM: 607631<li>R->W at 353: in EJM1, MIM: 254770<li>E->K at 357: in dbSNP:rs505760, MIM: 254770<li>A->S at 394: in IGE, MIM: 600669<li>M->T at 448: in dbSNP:rs1266787, MIM: 600669<li>I->L at 619: no effect on cell death; binds to CACNA1E; dbSNP:rs17851770, MIM: 600669</ul>	cell death	GO:0008219					<li>Q02343</li><li>Q15878</li>	<li>Idiopathic generalized epilepsy (IGE) [MIM:600669]</li><li>Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]</li><li>Juvenile absence epilepsy (JAE) [MIM:607631]</li>	<li>rs505760</li><li>rs1570624</li><li>rs3804506</li><li>rs17851770</li><li>rs3804505</li><li>rs17851771</li><li>rs1266787</li>	2
Q5JVX7	400757	<ul><li>E->G at 85: in dbSNP:rs2273682<li>V->I at 189: in dbSNP:rs11208997</ul>									<li>rs2273682</li><li>rs11208997</li>	2
Q5JWF2	2778	<ul><li>A->D at 436: in GNAS hyperfunction, MIM: 139320<li>A->APADPDSGAAPD at 437: in GNAS hyperfunction, MIM: 139320<li>P->R at 459: in GNAS hyperfunction, MIM: 139320</ul>							<li>Q5JWF2</li><li>P84996</li><li>P63093</li><li>P63092</li><li>P29797</li><li>P63091</li><li>P16052</li><li>O18979</li><li>P04896</li><li>Q8R4A8</li><li>O95467</li>	GNAS hyperfunction [MIM:139320]		2
Q5JWR5	23033	<ul><li>R->Q at 596: in dbSNP:rs4706980<li>D->H at 1155: in a breast cancer sample; somatic mutation<li>Q->L at 1781: in dbSNP:rs9444039</ul>									<li>rs4706980</li><li>rs9444039</li>	2
Q5JX69	388799	<ul><li>Q->K at 74: in dbSNP:rs3209183<li>E->A at 129: in dbSNP:rs2296129</ul>									<li>rs3209183</li><li>rs2296129</li>	2
Q5JX71	200232	<ul><li>V->A at 66: in dbSNP:rs707554<li>L->F at 95: in dbSNP:rs1054343<li>M->K at 117: in dbSNP:rs1054349<li>R->G at 135: in dbSNP:rs1054358<li>R->K at 146: in dbSNP:rs1054361</ul>									<li>rs1054343</li><li>rs707554</li><li>rs1054361</li><li>rs1054358</li><li>rs1054349</li>	2
Q5JXA9	284759	<ul><li>G->E at 153: in dbSNP:rs6033876<li>E->A at 215: in dbSNP:rs6042507<li>L->F at 304: in dbSNP:rs8119290</ul>									<li>rs6033876</li><li>rs6042507</li><li>rs8119290</li>	2
Q5JXC2	60672	<ul><li>K->N at 99: in dbSNP rsrs11553925<li>P->S at 142: in dbSNP rsrs11588712<li>E->K at 167: in dbSNP rsrs2295283</ul>									<li>rs11553925</li><li>rs2295283</li><li>rs11588712</li>	2
Q5JXM2	728464	<ul><li>L->F at 281: in dbSNP:rs2334321</ul>									rs2334321	2
Q5JY77	9737	<ul><li>A->G at 315: in dbSNP:rs17339512<li>I->V at 779: in dbSNP:rs17292748<li>P->S at 1093: in dbSNP:rs2235804</ul>									<li>rs2235804</li><li>rs17339512</li><li>rs17292748</li>	2
Q5JYT7	85449	<ul><li>K->N at 339: in dbSNP:rs1205434<li>P->L at 415: in dbSNP:rs6024235<li>A->V at 633: in dbSNP:rs16987188<li>E->K at 940: in dbSNP:rs760998<li>R->W at 1045: in dbSNP:rs3746471</ul>									<li>rs16987188</li><li>rs3746471</li><li>rs760998</li><li>rs1205434</li><li>rs6024235</li>	2
Q5JZY3	284656	<ul><li>R->H at 150: in a gastric adenocarcinoma sample; somatic mutation<li>T->K at 220: in dbSNP rsrs56276182<li>F->I at 281: in dbSNP rsrs4653328<li>L->P at 630<li>H->R at 775: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>A->T at 956</ul>									<li>rs4653328</li><li>rs56276182</li>	2
Q5K131	574028	<ul><li>S->F at 9: in dbSNP:rs12580153</ul>									rs12580153	2
Q5K4L6	11000	<ul><li>G->A at 110: in dbSNP:rs34527123<li>R->H at 439: in dbSNP:rs35102232</ul>									<li>rs34527123</li><li>rs35102232</li>	2
Q5K651	54809	<ul><li>I->T at 143: in dbSNP:rs6969691<li>N->S at 449: in dbSNP:rs10239435<li>V->L at 549: in dbSNP:rs10279499<li>K->E at 1495: in NFTC; loss of punctate cytoplasmic expression, MIM: 610455</ul>								Normophosphatemic familial tumoral calcinosis (NFTC) [MIM:610455]	<li>rs6969691</li><li>rs10279499</li><li>rs10239435</li>	2
Q5KSL6	139189	<ul><li>D->N at 1118: in dbSNP:rs4074320</ul>									rs4074320	2
Q5KU26	81035	<ul><li>K->E at 91: in dbSNP:rs17855029<li>I->V at 487: in dbSNP:rs8098850<li>P->S at 522: in dbSNP:rs2305025<li>G->S at 606: in dbSNP:rs2305027</ul>									<li>rs2305025</li><li>rs2305027</li><li>rs8098850</li><li>rs17855029</li>	2
Q5M775	92521	<ul><li>S->R at 274: in dbSNP:rs9908032<li>M->L at 293: in dbSNP:rs2703806<li>D->N at 769: in dbSNP:rs35835131</ul>									<li>rs35835131</li><li>rs2703806</li><li>rs9908032</li>	2
Q5M9N0	339965	<ul><li>E->D at 232: in dbSNP:rs17001889<li>I->V at 297: in dbSNP:rs17001885</ul>									<li>rs17001889</li><li>rs17001885</li>	2
Q5M9Q1		<ul><li>Y->C at 96: in dbSNP:rs12000<li>T->N at 152: in dbSNP:rs1635<li>H->Y at 162: in dbSNP:rs9461446<li>G->E at 398: in dbSNP:rs1679709</ul>									<li>rs1679709</li><li>rs9461446</li><li>rs1635</li><li>rs12000</li>	2
Q5MAI5	344387	<ul><li>S->P at 38: in dbSNP rsrs35947084<li>R->H at 53: in dbSNP rsrs35454041<li>H->Y at 118: in dbSNP:rs6731369<li>F->C at 228: in dbSNP rsrs56353587<li>S->Y at 288: in dbSNP:rs34819676<li>R->C at 307: in dbSNP rsrs56330730</ul>									<li>rs6731369</li><li>rs34819676</li><li>rs35454041</li><li>rs56330730</li><li>rs35947084</li><li>rs56353587</li>	2
Q5MCW4	148266	<ul><li>Q->E at 29: in a breast cancer sample; somatic mutation<li>E->G at 87: in a breast cancer sample; somatic mutation</ul>										2
Q5MJ08	441525	<ul><li>K->N at 48: in dbSNP:rs10482390</ul>									rs10482390	2
Q5MJ09	139067	<ul><li>K->N at 43: in dbSNP:rs6654212<li>V->I at 89: in dbSNP:rs5953851</ul>									<li>rs5953851</li><li>rs6654212</li>	2
Q5MJ10	494119	<ul><li>T->I at 8</ul>										2
Q5MNV8	494188	<ul><li>R->Q at 209: in dbSNP:rs9906595</ul>									rs9906595	2
Q5MNZ9	55062	<ul><li>T->I at 31: in dbSNP:rs883541<li>R->H at 308: in dbSNP:rs36084378</ul>									<li>rs36084378</li><li>rs883541</li>	2
Q5MY95	377841	<ul><li>L->P at 62: in dbSNP:rs6606582</ul>									rs6606582	2
Q5PT55	347051	<ul><li>I->T at 287: in dbSNP:rs7012758</ul>									rs7012758	2
Q5QGS0	340533	<ul><li>I->T at 1112: in dbSNP:rs12851763</ul>									rs12851763	2
Q5QGT7	344892	<ul><li>Q->R at 82: in dbSNP:rs11707167</ul>									rs11707167	2
Q5QGZ9	160364	<ul><li>Q->K at 254: in dbSNP:rs479499</ul>									rs479499	2
Q5QJ38	126637	<ul><li>A->G at 193: in dbSNP:rs16833835</ul>									rs16833835	2
Q5QJE6	30836	<ul><li>E->D at 309: in dbSNP:rs3747965<li>T->A at 341: in dbSNP:rs3179879<li>A->V at 430: in dbSNP:rs35650636<li>Y->F at 676: in dbSNP:rs12748154</ul>									<li>rs35650636</li><li>rs3179879</li><li>rs3747965</li><li>rs12748154</li>	2
Q5QJU3	340485	<ul><li>A->V at 134: in dbSNP:rs10964136</ul>									rs10964136	2
Q5R372	9910	<ul><li>S->G at 277: in dbSNP:rs7339904</ul>									rs7339904	2
Q5R387	391013	<ul><li>Q->R at 140: in dbSNP:rs6426616</ul>									rs6426616	2
Q5R3I4	55020	<ul><li>F->L at 243: in dbSNP:rs130642</ul>									rs130642	2
Q5R3K3	441168	<ul><li>G->R at 80: in dbSNP:rs1057192<li>E->K at 293: in dbSNP:rs11544160</ul>									<li>rs11544160</li><li>rs1057192</li>	2
Q5RHP9	127254	<ul><li>P->A at 264: in dbSNP:rs11210490<li>R->H at 555: in dbSNP:rs696698<li>I->V at 636: in dbSNP:rs17095653<li>H->R at 691: in dbSNP:rs2305549<li>L->V at 1056: in dbSNP:rs11580409<li>V->M at 1528: in dbSNP:rs9326116</ul>									<li>rs696698</li><li>rs9326116</li><li>rs11210490</li><li>rs11580409</li><li>rs2305549</li><li>rs17095653</li>	2
Q5S007	120892	<ul><li>H->R at 50: in dbSNP:rs2256408<li>L->P at 119: in dbSNP:rs33995463<li>C->S at 228: in dbSNP:rs56108242<li>A->V at 419: in dbSNP:rs34594498<li>N->K at 551: in dbSNP:rs7308720<li>M->V at 712: in PD<li>A->V at 716<li>I->V at 723: in dbSNP:rs10878307<li>P->L at 755: in dbSNP:rs34410987<li>R->M at 793: in PARK8 and PD; idiopathic and late onset sporadic; could be a polymorphism; dbSNP:rs35173587, MIM: 607060<li>K->E at 871, MIM: 607060<li>Q->R at 930: in PARK8; could be a poymorphism, MIM: 607060<li>D->Y at 944: in dbSNP:rs17519916, MIM: 607060<li>R->Q at 1067: in PD; familial nondominant, MIM: 607060<li>S->C at 1096: in PARK8; could be a polymorphism, MIM: 607060<li>I->V at 1122: in PARK8; dbSNP:rs34805604, MIM: 607060<li>S->T at 1228: in PARK8, MIM: 607060<li>P->A at 1262: in dbSNP:rs4640000, MIM: 607060<li>I->V at 1371: in PARK8 and PD; could be a polymorphism; dbSNP:rs17466213, MIM: 607060<li>D->E at 1375: in dbSNP:rs28365226, MIM: 607060<li>R->H at 1398: in dbSNP:rs7133914, MIM: 607060<li>R->C at 1441: in PARK8 and PD; autosomal dominant inheritance; show an increase in activity in both autophosphorylation and phosphorylation of a generic substrate: in dbSNP rsrs33939927, MIM: 607060<li>R->G at 1441: in PARK8 and PD; sporadic late-onset patients; dbSNP:rs33939927, MIM: 607060<li>R->H at 1441: in PARK8 and PD; sporadic; pathogenicity has yet to be confirmed; dbSNP:rs34995376, MIM: 607060<li>R->Q at 1514: in PARK8; pathogenicity has yet to be confirmed; might have an effect on protein structure; dbSNP:rs35507033, MIM: 607060<li>P->S at 1542: in PARK8; pathogenicity has yet to be confirmed; might have an effect on protein structure; dbSNP:rs33958906, MIM: 607060<li>R->Q at 1550: in an ovarian mucinous carcinoma sample; somatic mutation, MIM: 607060<li>V->E at 1598: in PARK8; pathogenicity has yet to be confirmed; might have an effect on protein structure; dbSNP:rs721710, MIM: 607060<li>R->P at 1628: in dbSNP:rs33949390, MIM: 607060<li>M->T at 1646, MIM: 607060<li>S->T at 1647: in dbSNP:rs11564148, MIM: 607060<li>Y->C at 1699: in PARK8; dbSNP:rs35801418, MIM: 607060<li>R->P at 1723: in an ovarian serous carcinoma sample; somatic mutation, MIM: 607060<li>R->H at 1728: in PD, MIM: 607060<li>R->L at 1728: in PD, MIM: 607060<li>M->T at 1869: in PARK8 and PD; pathogenicity has yet to be confirmed: in dbSNP rsrs35602796, MIM: 607060<li>L->F at 1870, MIM: 607060<li>R->H at 1941: in PARK8, MIM: 607060<li>I->T at 2012: in PARK8; pathogenicity uncertain: in dbSNP rsrs34015634, MIM: 607060<li>G->S at 2019: in PARK8 and PD; idiopathic or sporadic; the most common genetic determinant of PD identified so far; show an increase in activity in both autophosphorylation and phosphorylation of a generic substrate: in dbSNP rsrs34637584, MIM: 607060<li>I->T at 2020: in PARK8; significant increase in autophosphorylation of about 40% in comparison to wild-type protein in vitro: in dbSNP rsrs35870237, MIM: 607060<li>N->D at 2081: in dbSNP rsrs33995883, MIM: 607060<li>P->L at 2119: in dbSNP:rs12423862, MIM: 607060<li>T->M at 2141: in PD, MIM: 607060<li>R->H at 2143: in PD, MIM: 607060<li>N->I at 2261: in dbSNP:rs12581902, MIM: 607060<li>T->I at 2356: in PARK8, MIM: 607060<li>G->R at 2385: associated with PD; both the wild-type and the variant protein localize to the cytoplasm and form aggregates; under conditions of oxidative stress the variant protein is more toxic and is associated with a higher rate of apoptosis: in dbSNP rsrs34778348, MIM: 607060<li>E->K at 2395, MIM: 607060<li>M->T at 2397: in dbSNP:rs3761863, MIM: 607060<li>L->H at 2466: in PD, MIM: 607060</ul>	<li>phosphorylation</li><li>autophosphorylation</li><li>apoptosis</li>	<li>GO:0016310</li><li>GO:0046777</li><li>GO:0006915</li>			cytoplasm	GO:0005737		Parkinson disease 8 (PARK8) [MIM:607060, 168600]	<li>rs33995883</li><li>rs3761863</li><li>rs56108242</li><li>rs2256408</li><li>rs10878307</li><li>rs34995376</li><li>rs34594498</li><li>rs17466213</li><li>rs35173587</li><li>rs7133914</li><li>rs34015634</li><li>rs33995463</li><li>rs35507033</li><li>rs33939927</li><li>rs17519916</li><li>rs35870237</li><li>rs35602796</li><li>rs34637584</li><li>rs11564148</li><li>rs34805604</li><li>rs7308720</li><li>rs28365226</li><li>rs33958906</li><li>rs12581902</li><li>rs34778348</li><li>rs34410987</li><li>rs4640000</li><li>rs721710</li><li>rs35801418</li><li>rs33949390</li><li>rs12423862</li>	2
Q5SGD2	151742	<ul><li>A->S at 262: in dbSNP:rs13326359</ul>									rs13326359	2
Q5SNV9		<ul><li>P->S at 453: in dbSNP:rs6668699<li>R->Q at 544: in dbSNP:rs4845880<li>R->W at 602: in dbSNP:rs6667720<li>W->R at 782: in dbSNP:rs6699881<li>R->C at 800: in dbSNP:rs7538516<li>S->I at 848: in dbSNP:rs6697244<li>R->H at 944: in dbSNP:rs4846043<li>W->R at 955: in dbSNP:rs4846044<li>R->H at 1215: in dbSNP:rs3737967<li>C->S at 1295: in dbSNP:rs1537514<li>R->G at 1451: in dbSNP:rs868014</ul>									<li>rs6667720</li><li>rs6668699</li><li>rs6697244</li><li>rs6699881</li><li>rs4845880</li><li>rs4846044</li><li>rs4846043</li><li>rs1537514</li><li>rs7538516</li><li>rs868014</li><li>rs3737967</li>	2
Q5SQ13	203235	<ul><li>L->F at 8: in dbSNP:rs11787585<li>Q->R at 37: in dbSNP:rs2386136<li>W->G at 220: in dbSNP:rs11790360</ul>									<li>rs11787585</li><li>rs2386136</li><li>rs11790360</li>	2
Q5SQ64	259215	<ul><li>P->Q at 34: in dbSNP:rs17200983<li>P->S at 39: in dbSNP:rs805295<li>A->T at 107: in dbSNP:rs9267547<li>R->K at 167: in dbSNP:rs2242653</ul>									<li>rs2242653</li><li>rs805295</li><li>rs9267547</li><li>rs17200983</li>	2
Q5SQN1	116841	<ul><li>R->G at 3: in dbSNP:rs2236359<li>G->R at 74: in dbSNP:rs12239037<li>V->M at 109: in dbSNP:rs2236358<li>R->C at 336: in dbSNP:rs17851681</ul>									<li>rs12239037</li><li>rs2236359</li><li>rs2236358</li><li>rs17851681</li>	2
Q5SQS8	399814	<ul><li>T->K at 20: in dbSNP:rs41448048<li>A->T at 269: in dbSNP:rs2947594</ul>									<li>rs41448048</li><li>rs2947594</li>	2
Q5SR76	255352	<ul><li>S->N at 264: in dbSNP:rs12781609</ul>									rs12781609	2
Q5SRE5	23511	<ul><li>A->V at 1419: in dbSNP:rs17433024<li>N->K at 1587: in dbSNP:rs12350674</ul>									<li>rs12350674</li><li>rs17433024</li>	2
Q5SRE7	254295	<ul><li>R->W at 222: in dbSNP:rs10988159</ul>									rs10988159	2
Q5SRI9	79694	<ul><li>Y->C at 331: in a breast cancer sample; somatic mutation</ul>										2
Q5SRN2	10665	<ul><li>R->C at 30: in dbSNP:rs3129941<li>Y->H at 36: in dbSNP:rs9268384<li>Y->C at 69: in dbSNP:rs9268368<li>P->L at 128: in dbSNP:rs1033500<li>I->F at 150: in dbSNP:rs1265754<li>P->L at 161: in dbSNP:rs1003878<li>S->P at 170: in dbSNP:rs9405090<li>S->P at 227: in dbSNP:rs560505<li>I->V at 315: in dbSNP:rs3749966<li>K->Q at 400: in dbSNP:rs7775397</ul>									<li>rs1265754</li><li>rs9405090</li><li>rs1033500</li><li>rs3129941</li><li>rs3749966</li><li>rs7775397</li><li>rs1003878</li><li>rs9268368</li><li>rs560505</li><li>rs9268384</li>	2
Q5SSG8	394263	<ul><li>D->E at 139: in dbSNP:rs9262324<li>E->G at 161: in dbSNP:rs9262337<li>E->D at 244: in dbSNP:rs41288649<li>G->S at 253: in dbSNP:rs41288655<li>V->A at 285: in dbSNP:rs9262370<li>E->D at 289: in dbSNP:rs41288665<li>N->S at 313: in dbSNP:rs9262379<li>A->V at 315: in dbSNP:rs41288675<li>D->E at 319: in dbSNP:rs9262380<li>T->P at 323: in dbSNP:rs41288679<li>S->N at 328: in dbSNP:rs41288681</ul>									<li>rs41288679</li><li>rs9262380</li><li>rs41288665</li><li>rs41288675</li><li>rs9262370</li><li>rs9262324</li><li>rs41288655</li><li>rs41288681</li><li>rs9262337</li><li>rs9262379</li><li>rs41288649</li>	2
Q5ST30	57176	<ul><li>H->Y at 26: in dbSNP:rs6926224<li>G->R at 64: in dbSNP:rs6926723<li>W->R at 449: in dbSNP:rs2249464<li>V->L at 680: in dbSNP:rs2074506<li>R->Q at 917: in dbSNP:rs9394021<li>A->T at 965: in dbSNP:rs2252863<li>Q->R at 1049: in dbSNP:rs4678</ul>									<li>rs6926723</li><li>rs6926224</li><li>rs9394021</li><li>rs4678</li><li>rs2252863</li><li>rs2074506</li><li>rs2249464</li>	2
Q5SV97		<ul><li>W->R at 20: in dbSNP:rs6660139</ul>									rs6660139	2
Q5SVQ8	360023	<ul><li>D->Y at 327: in dbSNP:rs10494751</ul>									rs10494751	2
Q5SVZ6	79830	<ul><li>V->M at 73: in dbSNP:rs2971408<li>R->Q at 454: in dbSNP:rs7552714<li>E->G at 493: in dbSNP:rs16837197</ul>									<li>rs2971408</li><li>rs7552714</li><li>rs16837197</li>	2
Q5SW79	9859	<ul><li>G->S at 213: in dbSNP:rs2631092</ul>									rs2631092	2
Q5SW96	26119	<ul><li>S->H at 202: in ARH; Lebanon; requires 2 nucleotide substitutions, MIM: 603813<li>S->P at 202: in dbSNP:rs6687605, MIM: 603813</ul>							Q5SW96	Autosomal recessive hypercholesterolemia (ARH) [MIM:603813]	rs6687605	2
Q5SWA1	84919	<ul><li>P->S at 26: in dbSNP:rs12094135<li>E->K at 144: in dbSNP:rs4492688<li>N->S at 308: in dbSNP:rs3014626<li>E->G at 363: in dbSNP:rs2089891<li>K->E at 589: in dbSNP:rs17855962</ul>									<li>rs2089891</li><li>rs12094135</li><li>rs3014626</li><li>rs17855962</li><li>rs4492688</li>	2
Q5SWX8	54953	<ul><li>S->C at 251: in dbSNP:rs12084264</ul>									rs12084264	2
Q5SXH7	79949	<ul><li>V->I at 337: in dbSNP:rs34024791</ul>									rs34024791	2
Q5SXM1	339500	<ul><li>K->E at 144: in dbSNP:rs17854209</ul>									rs17854209	2
Q5SXM2	6621	<ul><li>H->Q at 799: in dbSNP:rs3812571<li>P->S at 1448: in dbSNP:rs3812561</ul>									<li>rs3812561</li><li>rs3812571</li>	2
Q5SXM8	728489	<ul><li>P->H at 169: in dbSNP:rs3812553<li>S->T at 178: in dbSNP:rs3812552</ul>									<li>rs3812553</li><li>rs3812552</li>	2
Q5SY80	257044	<ul><li>T->K at 66: in dbSNP:rs11586356<li>T->I at 653: in a breast cancer sample; somatic mutation</ul>									rs11586356	2
Q5SYB0	22844	<ul><li>T->P at 6: in dbSNP:rs3747539<li>A->T at 44: in dbSNP:rs2296556<li>T->N at 50: in dbSNP:rs7031966<li>A->V at 225: in dbSNP:rs1359590<li>G->D at 572: in a breast cancer sample; somatic mutation<li>Y->D at 846: in dbSNP:rs34233395<li>G->E at 1092: in dbSNP:rs35075933</ul>									<li>rs35075933</li><li>rs7031966</li><li>rs34233395</li><li>rs2296556</li><li>rs1359590</li><li>rs3747539</li>	2
Q5SYE7		<ul><li>V->M at 1085: in dbSNP:rs3734305<li>G->S at 1585: in dbSNP:rs11540147</ul>									<li>rs11540147</li><li>rs3734305</li>	2
Q5SZB4	375759	<ul><li>R->K at 248: in dbSNP:rs918165<li>R->Q at 312: in dbSNP:rs3213763<li>R->Q at 381: in dbSNP:rs2302779<li>K->R at 415: in dbSNP:rs3087721</ul>									<li>rs2302779</li><li>rs3213763</li><li>rs3087721</li><li>rs918165</li>	2
Q5SZD1		<ul><li>E->Q at 137: in dbSNP:rs6919674<li>P->L at 235: in dbSNP:rs9473588</ul>									<li>rs6919674</li><li>rs9473588</li>	2
Q5SZI1	401944	<ul><li>N->T at 134: in dbSNP:rs10917051</ul>									rs10917051	2
Q5SZK8	341640	<ul><li>V->M at 770: in dbSNP:rs7327915<li>L->V at 868: in dbSNP:rs7329939<li>M->K at 1039: in dbSNP:rs2496424<li>I->S at 1045: in dbSNP:rs17058433<li>F->S at 1070: in dbSNP:rs2496425<li>R->H at 1668: in dbSNP:rs1868463<li>R->W at 1840: in dbSNP:rs9603422<li>E->K at 1972: in Fraser syndrome; may impair calcium-binding in the 2nd Calx-beta domain, MIM: 219000<li>R->C at 2066: in dbSNP:rs9548505, MIM: 219000<li>T->S at 2153: in dbSNP:rs9548506, MIM: 219000<li>T->I at 2326: in dbSNP:rs9548509, MIM: 219000<li>A->V at 2962: in dbSNP:rs7996253, MIM: 219000</ul>			binding	GO:0005488				Fraser syndrome [MIM:219000]	<li>rs7996253</li><li>rs9548509</li><li>rs7329939</li><li>rs7327915</li><li>rs2496425</li><li>rs2496424</li><li>rs9548505</li><li>rs9603422</li><li>rs1868463</li><li>rs9548506</li><li>rs17058433</li>	2
Q5SZL2	387119	<ul><li>S->G at 137: in dbSNP:rs3734381<li>D->V at 166: in dbSNP:rs9489444<li>P->T at 251: in dbSNP:rs3734382<li>S->F at 345: in a breast cancer sample; somatic mutation<li>Q->H at 532: in dbSNP:rs9489410<li>M->V at 640: in dbSNP:rs7743702</ul>									<li>rs9489410</li><li>rs9489444</li><li>rs7743702</li><li>rs3734381</li><li>rs3734382</li>	2
Q5T013	81888	<ul><li>D->N at 239: in dbSNP:rs17850049</ul>									rs17850049	2
Q5T036	158293	<ul><li>L->F at 22: in dbSNP:rs1055710<li>K->E at 241: in dbSNP:rs10821128</ul>									<li>rs1055710</li><li>rs10821128</li>	2
Q5T089	79906	<ul><li>L->V at 124: in dbSNP:rs12130128<li>H->Y at 330: in dbSNP:rs17851912</ul>									<li>rs17851912</li><li>rs12130128</li>	2
Q5T0J7	84066	<ul><li>E->G at 55: in dbSNP:rs16852957<li>A->G at 146: in dbSNP:rs12079481<li>L->R at 171: in dbSNP:rs3813636</ul>									<li>rs16852957</li><li>rs12079481</li><li>rs3813636</li>	2
Q5T0L3	284680	<ul><li>V->A at 69: in dbSNP:rs164181<li>R->H at 217: in dbSNP:rs17853130</ul>									<li>rs164181</li><li>rs17853130</li>	2
Q5T0N1	118491	<ul><li>W->L at 849: in dbSNP:rs12256262<li>N->D at 944: in dbSNP:rs4294502</ul>									<li>rs4294502</li><li>rs12256262</li>	2
Q5T0T0	220972	<ul><li>P->S at 92: in dbSNP:rs3764990<li>Y->H at 266: in dbSNP:rs7908745</ul>									<li>rs7908745</li><li>rs3764990</li>	2
Q5T0W9	222584	<ul><li>N->S at 410: in dbSNP:rs13211183<li>S->R at 435: in dbSNP:rs9475076<li>K->T at 640: in dbSNP:rs239798<li>T->N at 907: in dbSNP:rs9475077</ul>									<li>rs9475077</li><li>rs13211183</li><li>rs239798</li><li>rs9475076</li>	2
Q5T124	91544	<ul><li>E->G at 165: in dbSNP:rs6695966<li>L->R at 312: in dbSNP:rs4332350<li>A->V at 474<li>C->CPGPGPGPS at 486<li>Missing at 487-494<li>Missing at 488-502<li>P->S at 501: in dbSNP:rs17838088<li>P->S at 509: in dbSNP:rs17838088</ul>									<li>rs17838088</li><li>rs6695966</li><li>rs4332350</li>	2
Q5T160	57038	<ul><li>K->R at 291: in dbSNP:rs17850652<li>I->V at 331: in dbSNP:rs3757370<li>D->G at 367: in dbSNP:rs1108758</ul>									<li>rs17850652</li><li>rs3757370</li><li>rs1108758</li>	2
Q5T197	149095	<ul><li>M->L at 512: in dbSNP:rs11264300</ul>									rs11264300	2
Q5T1B0	126859	<ul><li>I->L at 522: in dbSNP:rs11577579<li>A->V at 742: in dbSNP:rs17369441<li>E->Q at 991: in dbSNP:rs6425573<li>Q->E at 993: in dbSNP:rs6658180</ul>									<li>rs6658180</li><li>rs6425573</li><li>rs11577579</li><li>rs17369441</li>	2
Q5T1B1	170393	<ul><li>E->G at 144: in dbSNP:rs11146376</ul>									rs11146376	2
Q5T1C6	117145	<ul><li>L->R at 17: in dbSNP:rs3748805<li>S->C at 38</ul>									rs3748805	2
Q5T1H1	346007	<ul><li>T->M at 120: in dbSNP:rs12193967<li>P->L at 852: in dbSNP:rs9294631</ul>									<li>rs12193967</li><li>rs9294631</li>	2
Q5T1M5	23307	<ul><li>A->T at 106: in dbSNP:rs1133618<li>H->Q at 413: in dbSNP:rs10435864<li>L->F at 434: in dbSNP:rs10465129</ul>									<li>rs10465129</li><li>rs10435864</li><li>rs1133618</li>	2
Q5T1N1		<ul><li>N->S at 61: in dbSNP:rs1277207<li>A->V at 104: in dbSNP:rs17621411<li>E->G at 167: in dbSNP:rs17852793<li>H->Y at 255: in dbSNP:rs9440631<li>L->V at 352: in dbSNP:rs11580913<li>N->K at 616: in dbSNP:rs7551421<li>C->Y at 654: in dbSNP:rs7522157</ul>									<li>rs1277207</li><li>rs7522157</li><li>rs17621411</li><li>rs9440631</li><li>rs17852793</li><li>rs7551421</li><li>rs11580913</li>	2
Q5T1R4	59269	<ul><li>V->I at 35: in dbSNP:rs2146315<li>V->M at 484: in a colorectal cancer sample; somatic mutation<li>H->R at 575: in dbSNP:rs2810566<li>Q->H at 1087: in dbSNP:rs17363472<li>A->P at 2023: in dbSNP:rs2483689<li>D->A at 2109: in dbSNP:rs2991344<li>G->R at 2272: in dbSNP:rs11809423<li>T->A at 2339: in dbSNP:rs9439043</ul>									<li>rs2483689</li><li>rs17363472</li><li>rs2146315</li><li>rs11809423</li><li>rs2991344</li><li>rs2810566</li><li>rs9439043</li>	2
Q5T1V6	83479	<ul><li>P->T at 77: in a breast cancer sample; somatic mutation<li>I->V at 107: in dbSNP:rs3795634<li>S->R at 472: in dbSNP:rs17854157</ul>									<li>rs3795634</li><li>rs17854157</li>	2
Q5T200	23091	<ul><li>E->D at 1429: in dbSNP:rs9534264</ul>									rs9534264	2
Q5T230	8433	<ul><li>G->R at 73: in dbSNP:rs11599284</ul>									rs11599284	2
Q5T280	51490	<ul><li>A->V at 63: in dbSNP:rs34500948<li>T->R at 130: in dbSNP:rs6478854<li>I->T at 369: in dbSNP:rs2280843</ul>									<li>rs6478854</li><li>rs2280843</li><li>rs34500948</li>	2
Q5T292	170371	<ul><li>P->L at 83: in dbSNP:rs12257132</ul>									rs12257132	2
Q5T2D3	23252	<ul><li>N->S at 321: in dbSNP:rs2298110<li>A->T at 333: in dbSNP:rs10916668</ul>									<li>rs10916668</li><li>rs2298110</li>	2
Q5T2L2	340811	<ul><li>R->H at 50: in dbSNP:rs7097295</ul>									rs7097295	2
Q5T2Q4		<ul><li>V->E at 57: in dbSNP:rs2490085<li>R->Q at 176: in dbSNP:rs2489720<li>I->V at 288: in dbSNP:rs2505861</ul>									<li>rs2490085</li><li>rs2505861</li><li>rs2489720</li>	2
Q5T2R2	23590	<ul><li>D->E at 308: in coenzyme q10 deficiency, MIM: 607426</ul>								Coenzyme Q10 deficiency [MIM:607426]		2
Q5T2S8	55130	<ul><li>I->T at 343: in dbSNP:rs4405206<li>N->K at 935: in dbSNP:rs35181927<li>A->S at 1041: in dbSNP:rs3737184</ul>									<li>rs3737184</li><li>rs35181927</li><li>rs4405206</li>	2
Q5T2T1	143098	<ul><li>K->R at 322: in dbSNP:rs2997211</ul>									rs2997211	2
Q5T3F8	55362	<ul><li>V->M at 307: in dbSNP:rs4714759</ul>									rs4714759	2
Q5T3J3	55791	<ul><li>A->T at 438: in dbSNP:rs2232041<li>S->P at 599: in dbSNP:rs2232045<li>I->M at 641: in dbSNP:rs2232047</ul>									<li>rs2232045</li><li>rs2232047</li><li>rs2232041</li>	2
Q5T3U5	89845	<ul><li>I->T at 948: in dbSNP:rs2125739</ul>									rs2125739	2
Q5T440	200205	<ul><li>G->S at 211: in dbSNP:rs2298014</ul>									rs2298014	2
Q5T442	57165	<ul><li>P->S at 90: in PMLD1, MIM: 608804<li>Y->D at 272: in PMLD1, MIM: 608804<li>M->T at 286: in PMLD1, MIM: 608804</ul>								Pelizaeus-Merzbacher-like disease autosomal recessive type 1 (PMLD1) [MIM:608804]		2
Q5T481		<ul><li>P->T at 173: in dbSNP:rs7908490<li>W->S at 768: in dbSNP:rs1417635</ul>									<li>rs7908490</li><li>rs1417635</li>	2
Q5T4D3	84899	<ul><li>V->M at 286: in dbSNP:rs3809371<li>V->I at 419: in dbSNP:rs946837<li>M->V at 655: in a breast cancer sample; somatic mutation</ul>									<li>rs946837</li><li>rs3809371</li>	2
Q5T4F4	118813	<ul><li>V->I at 82: in dbSNP:rs17108378<li>G->V at 138: in dbSNP:rs10882993<li>G->V at 191: in SPG33; dbSNP:rs35077384, MIM: 610244</ul>								Spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244]	<li>rs17108378</li><li>rs35077384</li><li>rs10882993</li>	2
Q5T4F7	6425	<ul><li>G->A at 7: in dbSNP:rs11815012</ul>									rs11815012	2
Q5T4H9	399726	<ul><li>R->P at 73: in dbSNP:rs11012724</ul>									rs11012724	2
Q5T4I8	347744	<ul><li>A->D at 13: in dbSNP:rs7749306</ul>									rs7749306	2
Q5T4J0		<ul><li>P->L at 316: in dbSNP:rs9885719</ul>									rs9885719	2
Q5T4S7	23352	<ul><li>T->A at 1107: in dbSNP:rs16862578<li>R->H at 1394: in a breast cancer sample; somatic mutation<li>M->L at 4867: in dbSNP:rs12584<li>G->R at 4924: in a melanoma patient<li>V->M at 5084: in dbSNP:rs2274010</ul>									<li>rs12584</li><li>rs16862578</li><li>rs2274010</li>	2
Q5T4T6	221711	<ul><li>V->I at 94: in dbSNP:rs6456746<li>N->D at 647: in dbSNP:rs3798751<li>P->S at 672: in dbSNP:rs1225746</ul>									<li>rs1225746</li><li>rs3798751</li><li>rs6456746</li>	2
Q5T4W7	9048	<ul><li>Q->R at 19: in dbSNP:rs2242637</ul>									rs2242637	2
Q5T5C0	134957	<ul><li>N->S at 436: in dbSNP:rs1039084</ul>									rs1039084	2
Q5T5J6	54823	<ul><li>I->V at 148: in dbSNP:rs10489579<li>H->R at 536: in dbSNP:rs6698109<li>L->F at 638: in dbSNP:rs2295950<li>N->D at 821: in dbSNP:rs12041704</ul>									<li>rs6698109</li><li>rs12041704</li><li>rs10489579</li><li>rs2295950</li>	2
Q5T5N4	168090	<ul><li>R->L at 166: in dbSNP:rs36007498<li>I->M at 256: in dbSNP:rs510579<li>G->E at 271: in dbSNP:rs17852379<li>T->M at 301: in dbSNP:rs540751<li>V->L at 363: in dbSNP:rs9459350<li>R->Q at 385: in dbSNP:rs17856754</ul>									<li>rs540751</li><li>rs510579</li><li>rs36007498</li><li>rs17856754</li><li>rs9459350</li><li>rs17852379</li>	2
Q5T5P2	56243	<ul><li>A->G at 145: in dbSNP:rs17506606<li>A->T at 887: in dbSNP:rs10828663<li>P->A at 1362: in dbSNP:rs16924863</ul>									<li>rs16924863</li><li>rs10828663</li><li>rs17506606</li>	2
Q5T5S1	84960	<ul><li>M->T at 38: in dbSNP:rs945386<li>L->R at 113: in dbSNP:rs4546744<li>D->A at 129: in dbSNP:rs7859194<li>R->W at 342: in dbSNP:rs2811795<li>T->N at 421: in dbSNP:rs2254143</ul>									<li>rs2254143</li><li>rs4546744</li><li>rs2811795</li><li>rs945386</li><li>rs7859194</li>	2
Q5T5U3	57584	<ul><li>N->S at 712: in dbSNP:rs3748222<li>T->A at 1593: in dbSNP:rs1133897<li>V->A at 1610: in dbSNP:rs1143051<li>E->K at 1628: in dbSNP:rs1143057<li>A->T at 1726: in dbSNP:rs1143075<li>S->N at 1949: in dbSNP:rs1127893</ul>									<li>rs1127893</li><li>rs3748222</li><li>rs1133897</li><li>rs1143075</li><li>rs1143057</li><li>rs1143051</li>	2
Q5T5Y3	157922	<ul><li>A->V at 476: in dbSNP:rs35639321</ul>									rs35639321	2
Q5T619	127665	<ul><li>E->K at 42: in dbSNP:rs12564283<li>N->K at 111: in dbSNP:rs12568050</ul>									<li>rs12564283</li><li>rs12568050</li>	2
Q5T653	51069	<ul><li>S->F at 300: in dbSNP:rs10456521</ul>									rs10456521	2
Q5T655	159686	<ul><li>S->T at 496: in dbSNP:rs11192036<li>Q->H at 804: in dbSNP:rs7087328</ul>									<li>rs7087328</li><li>rs11192036</li>	2
Q5T681	414157	<ul><li>E->D at 121: in dbSNP:rs7093840</ul>									rs7093840	2
Q5T686		<ul><li>G->A at 41: in dbSNP:rs2275047</ul>									rs2275047	2
Q5T6C5	127002	<ul><li>P->S at 495: in dbSNP:rs1149172</ul>									rs1149172	2
Q5T6F0	25853	<ul><li>R->Q at 131: in dbSNP:rs11557154</ul>									rs11557154	2
Q5T6F2	55833	<ul><li>R->Q at 14: in dbSNP:rs1785506<li>P->L at 429: in dbSNP:rs10971809<li>N->S at 606: in dbSNP:rs307658<li>A->V at 756: in dbSNP:rs307692<li>M->I at 762: in dbSNP:rs16935295</ul>									<li>rs10971809</li><li>rs307658</li><li>rs16935295</li><li>rs307692</li><li>rs1785506</li>	2
Q5T6J7		<ul><li>K->T at 185: in dbSNP:rs1052690</ul>									rs1052690	2
Q5T6L9	55780	<ul><li>S->G at 540: in dbSNP:rs4716346</ul>									rs4716346	2
Q5T6X4	221303	<ul><li>Q->H at 71: in dbSNP:rs654128</ul>									rs654128	2
Q5T6X5	222545	<ul><li>P->S at 91: in dbSNP:rs2274911<li>I->R at 144: in dbSNP:rs28360548</ul>									<li>rs28360548</li><li>rs2274911</li>	2
Q5T742	220979	<ul><li>N->I at 63: in dbSNP:rs12269028</ul>									rs12269028	2
Q5T749	448834	<ul><li>Q->H at 14: in dbSNP:rs17612167<li>V->A at 37: in dbSNP:rs944683<li>C->R at 113: in dbSNP:rs16834457<li>R->H at 168: in dbSNP:rs16834461<li>C->S at 413: in dbSNP:rs4329520<li>P->T at 532: in dbSNP:rs6703294</ul>									<li>rs944683</li><li>rs16834461</li><li>rs17612167</li><li>rs6703294</li><li>rs4329520</li><li>rs16834457</li>	2
Q5T751	353133	<ul><li>C->Y at 16: in dbSNP:rs2006940</ul>									rs2006940	2
Q5T764	439996	<ul><li>L->P at 188: in dbSNP:rs7072728</ul>									rs7072728	2
Q5T7B8	347240	<ul><li>D->E at 50: in dbSNP:rs16935508<li>M->V at 140: in dbSNP:rs10972048<li>W->L at 218: in dbSNP:rs17350674<li>T->K at 1077: in dbSNP:rs34101674</ul>									<li>rs34101674</li><li>rs17350674</li><li>rs10972048</li><li>rs16935508</li>	2
Q5T7M4	388581	<ul><li>G->R at 14: in dbSNP:rs7539412</ul>									rs7539412	2
Q5T7N2	54596	<ul><li>R->S at 27: in dbSNP:rs7552335<li>V->A at 246: in dbSNP:rs7542665<li>V->M at 309: in dbSNP:rs7533274<li>K->N at 329: in dbSNP:rs2457828<li>P->T at 549: in dbSNP:rs11207933<li>T->I at 613: in dbSNP:rs2886644<li>L->V at 860: in dbSNP:rs11207934</ul>									<li>rs7533274</li><li>rs11207934</li><li>rs11207933</li><li>rs7552335</li><li>rs2886644</li><li>rs2457828</li><li>rs7542665</li>	2
Q5T7N3	163782	<ul><li>G->S at 701: in dbSNP:rs17123306<li>T->A at 768: in dbSNP:rs11207949<li>H->R at 822: in dbSNP:rs2258470<li>V->A at 840: in dbSNP:rs2666472<li>V->L at 935: in dbSNP:rs2941679<li>A->V at 987: in dbSNP:rs34591898</ul>									<li>rs11207949</li><li>rs2666472</li><li>rs34591898</li><li>rs2941679</li><li>rs2258470</li><li>rs17123306</li>	2
Q5T7V8	92344	<ul><li>E->K at 320: in dbSNP:rs913257</ul>									rs913257	2
Q5T7W7	158427	<ul><li>R->Q at 83: in dbSNP:rs2773347<li>A->D at 109: in dbSNP:rs10817858</ul>									<li>rs2773347</li><li>rs10817858</li>	2
Q5T848	57512	<ul><li>A->G at 425: in dbSNP:rs2480345<li>I->V at 1209: in dbSNP:rs10828833</ul>									<li>rs10828833</li><li>rs2480345</li>	2
Q5T890	375748	<ul><li>V->A at 592: in dbSNP:rs2274654</ul>									rs2274654	2
Q5T8A7	9858	<ul><li>V->A at 98: in dbSNP:rs3748192<li>K->E at 206: in dbSNP:rs3928777<li>R->K at 346: in dbSNP:rs914644<li>M->T at 434: in dbSNP:rs1808998<li>R->H at 520: in dbSNP:rs3748195<li>G->S at 576: in dbSNP:rs17854528<li>N->D at 834: in dbSNP:rs2078266</ul>									<li>rs17854528</li><li>rs914644</li><li>rs1808998</li><li>rs2078266</li><li>rs3748192</li><li>rs3748195</li><li>rs3928777</li>	2
Q5T8D3	91452	<ul><li>T->M at 472: in dbSNP:rs7918793</ul>									rs7918793	2
Q5T8I9	113802	<ul><li>T->A at 129: in dbSNP:rs9988420<li>R->Q at 230: in dbSNP:rs35974434<li>M->I at 361: in dbSNP:rs17850887</ul>									<li>rs17850887</li><li>rs9988420</li><li>rs35974434</li>	2
Q5T8P6	64062	<ul><li>V->D at 718: in dbSNP:rs10767</ul>									rs10767	2
Q5T8R8	157983	<ul><li>L->R at 43: in dbSNP:rs636922<li>R->Q at 178: in dbSNP:rs2236547<li>R->G at 231: in dbSNP:rs540473</ul>									<li>rs540473</li><li>rs2236547</li><li>rs636922</li>	2
Q5T953	389792	<ul><li>P->S at 105: in dbSNP:rs184457</ul>									rs184457	2
Q5T9A4	83858	<ul><li>V->I at 7: in dbSNP:rs1240504</ul>									rs1240504	2
Q5T9L3	79971	<ul><li>V->I at 465: in dbSNP:rs983034</ul>									rs983034	2
Q5T9Y9		<ul><li>N->D at 13: in dbSNP:rs10797774</ul>									rs10797774	2
Q5T9Z0	127670	<ul><li>Y->H at 130: in dbSNP:rs6674281</ul>									rs6674281	2
Q5TA76	353142	<ul><li>R->C at 59: in dbSNP:rs16834245</ul>									rs16834245	2
Q5TA78	199834	<ul><li>G->V at 95: in dbSNP:rs10888510</ul>									rs10888510	2
Q5TA82	353141	<ul><li>C->Y at 92: in dbSNP:rs11205064</ul>									rs11205064	2
Q5TAA0	55001	<ul><li>L->V at 14: in dbSNP:rs671108</ul>									rs671108	2
Q5TAH2	284525	<ul><li>T->M at 481: in dbSNP:rs7551131<li>A->G at 505: in dbSNP:rs16846206<li>R->S at 934: in dbSNP:rs17854214</ul>									<li>rs7551131</li><li>rs17854214</li><li>rs16846206</li>	2
Q5TAP6	9724	<ul><li>G->V at 85: in dbSNP:rs3742289<li>T->A at 101: in dbSNP:rs3742290<li>R->H at 319: in dbSNP:rs17402034</ul>									<li>rs17402034</li><li>rs3742289</li><li>rs3742290</li>	2
Q5TAX3	23318	<ul><li>D->Y at 796: in dbSNP:rs12127732</ul>									rs12127732	2
Q5TB80	22832	<ul><li>C->S at 266: in dbSNP:rs17790493<li>E->Q at 272: in dbSNP:rs16874323<li>S->C at 342: in dbSNP:rs17790493<li>E->Q at 348: in dbSNP:rs16874323</ul>									<li>rs17790493</li><li>rs16874323</li>	2
Q5TBA9	10129	<ul><li>G->S at 1968: in dbSNP:rs2806639</ul>									rs2806639	2
Q5TBB1	79621	<ul><li>L->R at 60: in AGS2; heterozygous compound with T-177, MIM: 610181<li>H->R at 86: in AGS2; heterozygous compound with T-177, MIM: 610181<li>K->T at 162: in AGS2, MIM: 610181<li>T->I at 163: in AGS2; heterozygous compound with T-177, MIM: 610181<li>A->T at 177: in AGS2; frequent mutation, MIM: 610181<li>V->G at 185: in AGS2, MIM: 610181<li>Y->H at 219: in AGS2; heterozygous compound with a nonsense mutation, MIM: 610181</ul>							Q5TBB1	Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]		2
Q5TBC7	440603	<ul><li>D->N at 90: in dbSNP:rs1217381</ul>									rs1217381	2
Q5TC12	64756	<ul><li>S->G at 62: in dbSNP:rs11211337</ul>									rs11211337	2
Q5TC84	79627	<ul><li>S->P at 47<li>Missing at 396</ul>										2
Q5TCH4	284541	<ul><li>R->C at 11: in allele CYP4A22*2 and CYP4A22*3<li>K->R at 121: in dbSNP:rs2758717<li>R->W at 126: in allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525<li>G->S at 130: in allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900<li>N->Y at 152: in allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056899<li>V->F at 185: in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15<li>S->N at 226: in dbSNP:rs35202523<li>C->S at 230: in dbSNP:rs35156123<li>C->R at 231: allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs10789501<li>K->T at 276: in allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15<li>L->P at 428: in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599<li>M->I at 491: in dbSNP:rs2758714<li>L->F at 509: in allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600</ul>									<li>rs2056900</li><li>rs12564525</li><li>rs2758717</li><li>rs2405599</li><li>rs2056899</li><li>rs2758714</li><li>rs35202523</li><li>rs10789501</li><li>rs4926600</li><li>rs35156123</li>	2
Q5TCM9	254910	<ul><li>C->Y at 40: in dbSNP:rs2105117</ul>									rs2105117	2
Q5TCX8	84451	<ul><li>D->N at 420: in dbSNP rsrs35465006<li>E->D at 563: in dbSNP rsrs35758282<li>S->F at 597: in dbSNP rsrs34984140<li>V->I at 728: in dbSNP:rs3795375<li>E->D at 741: in dbSNP:rs3795374<li>C->G at 784: in dbSNP:rs963981<li>R->W at 892: in dbSNP rsrs55681416<li>T->I at 900: in dbSNP rsrs34499091<li>R->C at 977: in dbSNP rsrs56065162<li>P->L at 982: in dbSNP rsrs34794284</ul>									<li>rs56065162</li><li>rs3795375</li><li>rs55681416</li><li>rs34984140</li><li>rs963981</li><li>rs35465006</li><li>rs34499091</li><li>rs34794284</li><li>rs35758282</li><li>rs3795374</li>	2
Q5TCY1	84630	<ul><li>P->L at 613: in dbSNP rsrs34993661<li>G->A at 623: in dbSNP:rs3800294<li>P->R at 649: in dbSNP rsrs35175743<li>D->E at 741: in dbSNP rsrs56377340<li>E->D at 744: in dbSNP:rs3800295<li>S->F at 806: in a lung large cell carcinoma sample; somatic mutation<li>P->S at 855: in a metastatic melanoma sample; somatic mutation<li>K->R at 1145: in dbSNP rsrs3800297<li>L->S at 1184: in dbSNP:rs3800298</ul>									<li>rs3800294</li><li>rs35175743</li><li>rs34993661</li><li>rs56377340</li><li>rs3800295</li><li>rs3800297</li><li>rs3800298</li>	2
Q5TCZ1	9644	<ul><li>K->Q at 659: in dbSNP:rs11818820<li>R->Q at 1035: in dbSNP:rs3781365</ul>									<li>rs3781365</li><li>rs11818820</li>	2
Q5TD94	345895	<ul><li>P->S at 87: in CILD11<li>T->S at 149: in dbSNP:rs13213314<li>R->H at 556: in dbSNP:rs6927567<li>L->P at 589: in dbSNP:rs784133<li>N->H at 627: in dbSNP:rs9488991<li>A->V at 700: in dbSNP:rs9488992</ul>									<li>rs6927567</li><li>rs13213314</li><li>rs784133</li><li>rs9488992</li><li>rs9488991</li>	2
Q5TD97		<ul><li>V->M at 211: in dbSNP:rs2252816</ul>									rs2252816	2
Q5TEA3	25943	<ul><li>T->P at 481: in dbSNP:rs16988463<li>R->G at 577: in dbSNP:rs2422864</ul>									<li>rs16988463</li><li>rs2422864</li>	2
Q5TEA6	80343	<ul><li>G->S at 477: in dbSNP:rs11697581<li>H->Q at 687: in dbSNP:rs2073290</ul>									<li>rs11697581</li><li>rs2073290</li>	2
Q5TEJ8	9473	<ul><li>V->L at 431: in dbSNP:rs35995543<li>K->E at 511: in dbSNP:rs3766400</ul>									<li>rs3766400</li><li>rs35995543</li>	2
Q5TEU4	79133	<ul><li>L->P at 229: in mitochondrial complex I deficiency, MIM: 252010<li>L->F at 337: in dbSNP:rs6042368, MIM: 252010</ul>							Q07842	Mitochondrial complex I deficiency [MIM:252010]	rs6042368	2
Q5TF39	91749	<ul><li>S->P at 93: in dbSNP:rs17853558</ul>									rs17853558	2
Q5TFG8	153918	<ul><li>P->S at 6: in dbSNP:rs6934118</ul>									rs6934118	2
Q5TG30		<ul><li>G->R at 133: in dbSNP:rs6100455<li>R->L at 413: in dbSNP:rs6070872<li>H->N at 463: in dbSNP:rs16987460</ul>									<li>rs6100455</li><li>rs16987460</li><li>rs6070872</li>	2
Q5TG53		<ul><li>R->Q at 91: in dbSNP:rs624270</ul>									rs624270	2
Q5TGJ6	154150	<ul><li>T->M at 87: in dbSNP:rs2076506</ul>									rs2076506	2
Q5TGL8	221749	<ul><li>Q->H at 184: in dbSNP:rs226959<li>P->Q at 189: in dbSNP:rs17855666<li>E->Q at 203: in a breast cancer sample; somatic mutation</ul>									<li>rs17855666</li><li>rs226959</li>	2
Q5TGP6	80133	<ul><li>N->S at 29: in dbSNP:rs17563089<li>V->A at 74: in dbSNP:rs2294740<li>Y->H at 160: in dbSNP:rs16863872</ul>									<li>rs17563089</li><li>rs16863872</li><li>rs2294740</li>	2
Q5TGY1	255104	<ul><li>Q->K at 72: in dbSNP:rs10917536<li>R->H at 478: in dbSNP:rs4515815</ul>									<li>rs4515815</li><li>rs10917536</li>	2
Q5TGY3	27245	<ul><li>A->T at 935: in dbSNP:rs4908364</ul>									rs4908364	2
Q5TH69	57221	<ul><li>E->D at 413: in dbSNP:rs9376338<li>S->A at 689: in dbSNP:rs7764091<li>A->T at 1571: in dbSNP:rs3736706<li>K->R at 2031: in dbSNP:rs35964895</ul>									<li>rs9376338</li><li>rs35964895</li><li>rs3736706</li><li>rs7764091</li>	2
Q5TH74	90529	<ul><li>S->F at 254: in a breast cancer sample; somatic mutation</ul>										2
Q5THJ4	55187	<ul><li>A->T at 225: in dbSNP:rs12057307<li>S->L at 1341: in dbSNP:rs12407578<li>E->V at 1505: in dbSNP:rs4845898<li>S->F at 1707: in dbSNP:rs958068</ul>									<li>rs4845898</li><li>rs958068</li><li>rs12057307</li><li>rs12407578</li>	2
Q5THR3	64800	<ul><li>V->A at 166: in dbSNP:rs16990981<li>R->G at 199: in dbSNP:rs3747203<li>T->A at 351: in dbSNP:rs5764214<li>S->A at 384: in dbSNP:rs6006438<li>H->Y at 400: in dbSNP:rs137794<li>T->A at 680: in dbSNP:rs137731<li>D->N at 780: in dbSNP:rs12159591<li>R->W at 800: in dbSNP:rs6006514<li>A->V at 1059: in dbSNP:rs9614382</ul>									<li>rs9614382</li><li>rs6006514</li><li>rs137731</li><li>rs6006438</li><li>rs137794</li><li>rs16990981</li><li>rs12159591</li><li>rs3747203</li><li>rs5764214</li>	2
Q5TI25	25832	<ul><li>S->G at 243: in dbSNP:rs3871941<li>R->C at 571: in dbSNP:rs17433673</ul>									<li>rs17433673</li><li>rs3871941</li>	2
Q5TIA1	150365	<ul><li>E->Q at 657: in dbSNP:rs17002655<li>S->T at 853: in dbSNP:rs17002665<li>K->E at 1049: in dbSNP:rs12484839</ul>									<li>rs12484839</li><li>rs17002655</li><li>rs17002665</li>	2
Q5TID7	57821	<ul><li>F->S at 172: in dbSNP:rs3820059</ul>									rs3820059	2
Q5TIE3		<ul><li>A->S at 319: in dbSNP:rs2872972<li>N->S at 469: in dbSNP:rs2072752<li>S->N at 506: in dbSNP:rs12072406<li>K->R at 634: in dbSNP:rs10916769</ul>									<li>rs10916769</li><li>rs2072752</li><li>rs2872972</li><li>rs12072406</li>	2
Q5TYW1	26149	<ul><li>S->Y at 68: in dbSNP:rs2065444</ul>									rs2065444	2
Q5TZ20	391211	<ul><li>M->L at 258: in dbSNP:rs9330305</ul>									rs9330305	2
Q5U3C3	84187	<ul><li>S->N at 204: in dbSNP:rs34026111<li>Y->H at 276: in a colorectal cancer sample; somatic mutation</ul>									rs34026111	2
Q5U5Q3	51320	<ul><li>T->P at 412: in dbSNP:rs12970605</ul>									rs12970605	2
Q5U5R9	143279	<ul><li>P->A at 19: in dbSNP:rs7081569</ul>									rs7081569	2
Q5U5Z8	79841	<ul><li>I->R at 90: in dbSNP:rs12795414<li>T->P at 333: in dbSNP:rs35898124<li>R->H at 349: in dbSNP:rs7941404<li>D->G at 368: in dbSNP:rs1870545<li>M->I at 671: in dbSNP:rs12286721</ul>									<li>rs12795414</li><li>rs35898124</li><li>rs1870545</li><li>rs7941404</li><li>rs12286721</li>	2
Q5U623	80063	<ul><li>S->L at 527: in dbSNP:rs34834862<li>T->I at 537: in dbSNP:rs9932051<li>A->T at 543: in dbSNP:rs9931441</ul>									<li>rs9931441</li><li>rs34834862</li><li>rs9932051</li>	2
Q5U649	144608	<ul><li>K->R at 51: in dbSNP:rs17853860<li>K->R at 65: in dbSNP:rs7304054<li>N->K at 103: in dbSNP:rs7307438</ul>									<li>rs7304054</li><li>rs17853860</li><li>rs7307438</li>	2
Q5U651	54922	<ul><li>R->C at 601: in dbSNP:rs2287922</ul>									rs2287922	2
Q5UIP0	55183	<ul><li>G->S at 836: in dbSNP:rs2444263<li>V->M at 1362: in dbSNP:rs2123465<li>R->G at 1686: in dbSNP:rs3732305<li>E->K at 1784: in a breast cancer sample; somatic mutation<li>V->I at 1862: in dbSNP:rs2444258<li>D->H at 1955: in a breast cancer sample; somatic mutation<li>N->Y at 2021: in dbSNP:rs2444257<li>M->R at 2165: in dbSNP:rs16830057<li>L->V at 2418: in dbSNP:rs1065177</ul>									<li>rs2444257</li><li>rs16830057</li><li>rs1065177</li><li>rs2444258</li><li>rs2444263</li><li>rs2123465</li><li>rs3732305</li>	2
Q5VIY5	90333	<ul><li>H->R at 374: in dbSNP:rs12462929<li>G->R at 477: in dbSNP:rs10419826</ul>									<li>rs10419826</li><li>rs12462929</li>	2
Q5VSK2	414308	<ul><li>S->G at 396: in dbSNP:rs1926736<li>F->L at 407: in dbSNP:rs2437257</ul>									<li>rs1926736</li><li>rs2437257</li>	2
Q5VST6	51104	<ul><li>R->K at 154: in dbSNP:rs12380380<li>Q->K at 169: in dbSNP:rs17854317</ul>									<li>rs17854317</li><li>rs12380380</li>	2
Q5VST9	84033	<ul><li>A->T at 51: in dbSNP:rs1771487<li>Q->R at 502: in dbSNP:rs1771487<li>G->S at 804: in dbSNP:rs55950009<li>A->T at 908: in dbSNP:rs1757153<li>K->R at 1027: in dbSNP:rs55760713<li>A->S at 1086<li>A->T at 1090<li>S->T at 1091<li>A->P at 1101<li>G->R at 1121<li>L->V at 1133<li>A->V at 1136: in a colorectal cancer sample; somatic mutation<li>H->Q at 1156<li>Q->H at 1248<li>V->D at 1508: in dbSNP:rs7532342<li>A->V at 1532: in dbSNP:rs453140<li>T->M at 1566: in dbSNP:rs56217040<li>A->T at 1601: in dbSNP:rs55706639<li>R->H at 1792: in a colorectal cancer sample; somatic mutation<li>V->M at 1930: in a colorectal cancer sample; somatic mutation<li>E->K at 2090: in a colorectal cancer sample; somatic mutation<li>D->E at 2106: in dbSNP:rs1188721<li>F->L at 2116: in dbSNP:rs1188722<li>S->F at 2314: in a breast cancer sample; somatic mutation<li>R->Q at 2529: in dbSNP:rs3795783<li>V->M at 2720: in dbSNP:rs1188697<li>R->W at 2812: in dbSNP:rs3795785<li>A->T at 3300: in dbSNP:rs437129<li>E->D at 3372: in dbSNP:rs3795789<li>S->C at 3373: in dbSNP:rs3795790<li>A->V at 3389<li>D->E at 3426<li>R->G at 3834<li>R->Q at 3983: in a colorectal cancer sample; somatic mutation<li>G->R at 4039: in dbSNP:rs435776<li>H->R at 4381: in dbSNP:rs1150912<li>C->R at 4450: in dbSNP:rs1188732<li>R->H at 4534: in dbSNP:rs4653942<li>R->H at 4558: in a colorectal cancer sample; somatic mutation<li>R->Q at 4810: in a breast cancer sample; somatic mutation<li>A->S at 4823<li>A->T at 5071: in a breast cancer sample; somatic mutation<li>R->Q at 5598<li>E->Q at 6473</ul>									<li>rs3795783</li><li>rs3795785</li><li>rs55706639</li><li>rs3795789</li><li>rs437129</li><li>rs55760713</li><li>rs453140</li><li>rs7532342</li><li>rs1188697</li><li>rs4653942</li><li>rs435776</li><li>rs1771487</li><li>rs55950009</li><li>rs1188722</li><li>rs1188721</li><li>rs56217040</li><li>rs1188732</li><li>rs1150912</li><li>rs1757153</li><li>rs3795790</li>	2
Q5VT06	9857	<ul><li>E->Q at 945: in dbSNP:rs2477120<li>T->A at 1445: in dbSNP:rs16855164</ul>									<li>rs16855164</li><li>rs2477120</li>	2
Q5VT25	8476	<ul><li>E->K at 50: in a lung neuroendocrine carcinoma sample; somatic mutation<li>T->M at 231: in dbSNP rsrs34614709<li>I->T at 537: in dbSNP rsrs56364976<li>T->M at 780: in dbSNP:rs56119119<li>Y->C at 790: in dbSNP:rs34943764<li>A->T at 1148<li>R->H at 1211<li>V->I at 1317<li>I->K at 1418: in dbSNP rsrs56229267<li>A->V at 1469: in dbSNP:rs55687355<li>T->A at 1618<li>A->V at 1699: in dbSNP:rs2802269</ul>									<li>rs34614709</li><li>rs34943764</li><li>rs2802269</li><li>rs56364976</li><li>rs55687355</li><li>rs56229267</li><li>rs56119119</li>	2
Q5VT66	64757	<ul><li>T->A at 165: in dbSNP:rs2642438<li>M->K at 187: in dbSNP:rs17850677<li>C->S at 246: in dbSNP:rs3738178<li>M->I at 268: in dbSNP:rs2642419</ul>									<li>rs3738178</li><li>rs17850677</li><li>rs2642419</li><li>rs2642438</li>	2
Q5VT79	244	<ul><li>A->G at 177: in dbSNP:rs3013886</ul>									rs3013886	2
Q5VT97		<ul><li>I->M at 406: in dbSNP:rs12090608<li>V->I at 491: in dbSNP:rs817443<li>V->I at 1079: in dbSNP:rs709786</ul>									<li>rs12090608</li><li>rs817443</li><li>rs709786</li>	2
Q5VT99		<ul><li>L->F at 276: in dbSNP:rs2940315<li>K->E at 292: in dbSNP:rs3013105</ul>									<li>rs2940315</li><li>rs3013105</li>	2
Q5VTD9	8328	<ul><li>R->H at 231: in a colorectal cancer sample; somatic mutation</ul>										2
Q5VTE6	90806	<ul><li>P->S at 97: in dbSNP:rs11542154</ul>									rs11542154	2
Q5VTJ3		<ul><li>T->P at 133: in dbSNP:rs2992752<li>H->N at 259: in dbSNP:rs2992753</ul>									<li>rs2992752</li><li>rs2992753</li>	2
Q5VTL7	163479	<ul><li>S->N at 310: in dbSNP:rs11582005<li>V->A at 354: in dbSNP:rs4494160<li>N->S at 368: in dbSNP:rs3006870<li>P->L at 686: in dbSNP:rs1277017</ul>									<li>rs11582005</li><li>rs3006870</li><li>rs1277017</li><li>rs4494160</li>	2
Q5VTM1	100132929	<ul><li>V->L at 35: in dbSNP:rs7079587</ul>									rs7079587	2
Q5VTQ0	158219	<ul><li>T->P at 62: in dbSNP:rs10961917<li>V->I at 354: in dbSNP:rs1407977</ul>									<li>rs1407977</li><li>rs10961917</li>	2
Q5VTT5	127294	<ul><li>D->H at 258: in dbSNP:rs4319261<li>T->M at 266: in dbSNP:rs6678540<li>M->T at 344: in dbSNP:rs4233050<li>Q->R at 435: in dbSNP:rs6700245<li>D->G at 528: in dbSNP:rs4393101<li>G->R at 662: in dbSNP:rs4320729<li>R->Q at 775: in dbSNP:rs12082295<li>P->S at 853: in dbSNP:rs35446243<li>D->A at 892: in dbSNP:rs36077733<li>F->L at 1041: in dbSNP:rs16829083<li>I->T at 1066: in dbSNP:rs12145360<li>R->Q at 1124: in dbSNP:rs16829071</ul>									<li>rs12082295</li><li>rs6678540</li><li>rs4320729</li><li>rs16829071</li><li>rs16829083</li><li>rs6700245</li><li>rs4233050</li><li>rs36077733</li><li>rs35446243</li><li>rs12145360</li><li>rs4393101</li><li>rs4319261</li>	2
Q5VTY9	55733	<ul><li>E->G at 165: in dbSNP:rs2228898<li>S->N at 182: in dbSNP:rs2294851<li>G->E at 448: in a melanoma cell line; abolishes GTP-binding<li>N->S at 450: in a lung cancer cell line</ul>			GTP-binding	GO:0005525					<li>rs2228898</li><li>rs2294851</li>	2
Q5VU43	9659	<ul><li>N->S at 13: in dbSNP:rs3010980<li>R->L at 25: in dbSNP:rs1664022<li>I->T at 49: in dbSNP:rs573724<li>A->T at 167: in dbSNP:rs2590120<li>R->K at 171: in dbSNP:rs3121544<li>E->A at 391: in dbSNP:rs45622240 and dbSNP:rs1324366<li>E->V at 410: in dbSNP:rs17425009<li>H->R at 482: in dbSNP:rs1698681<li>R->H at 681: in dbSNP:rs1629011<li>C->R at 708: in dbSNP:rs1628172<li>F->I at 1013: in dbSNP:rs1698624<li>A->T at 1066: in dbSNP:rs1698647<li>K->E at 1359: in dbSNP:rs1747958<li>V->E at 1736: in dbSNP:rs1778159<li>A->S at 1742: in dbSNP:rs1698605</ul>									<li>rs3010980</li><li>rs1628172</li><li>rs1698681</li><li>rs1698605</li><li>rs1629011</li><li>rs2590120</li><li>rs1664022</li><li>rs17425009</li><li>rs1698647</li><li>rs1698624</li><li>rs1778159</li><li>rs573724</li><li>rs3121544</li><li>rs45622240 and dbSNP:rs1324366</li><li>rs1747958</li>	2
Q5VU65	91181	<ul><li>V->I at 1491: in dbSNP:rs11264875</ul>									rs11264875	2
Q5VU92	139170	<ul><li>D->G at 19: in dbSNP:rs11095722</ul>									rs11095722	2
Q5VU97	57685	<ul><li>M->T at 414: in dbSNP:rs6588100</ul>									rs6588100	2
Q5VUA4	24149	<ul><li>S->I at 407: in dbSNP:rs34541323<li>N->S at 812: in a breast cancer sample; somatic mutation<li>L->V at 870: in dbSNP:rs9357410<li>G->R at 1274: in a breast cancer sample; somatic mutation<li>T->I at 1292: in dbSNP:rs10948072<li>A->T at 1580: in dbSNP:rs3734684<li>T->I at 1583: in dbSNP:rs36107018<li>V->A at 1797: in dbSNP:rs1459675</ul>									<li>rs10948072</li><li>rs9357410</li><li>rs1459675</li><li>rs3734684</li><li>rs36107018</li><li>rs34541323</li>	2
Q5VUB5	221061	<ul><li>P->S at 465: in dbSNP:rs3814165</ul>									rs3814165	2
Q5VUD6	138311	<ul><li>G->S at 158: in dbSNP:rs945384</ul>									rs945384	2
Q5VUG0	57713	<ul><li>P->R at 675: in dbSNP:rs3740212</ul>									rs3740212	2
Q5VUM1	135154	<ul><li>Q->R at 46: in dbSNP:rs1048886<li>R->C at 57: in dbSNP:rs34711085</ul>									<li>rs34711085</li><li>rs1048886</li>	2
Q5VV42	54901	<ul><li>K->R at 484: in dbSNP:rs9460608</ul>									rs9460608	2
Q5VV43	9856	<ul><li>T->P at 142: in dbSNP:rs4576240<li>A->T at 311: in DYX2; dbSNP:rs4504469, MIM: 600202<li>G->S at 567: in dbSNP:rs2744559, MIM: 600202<li>S->G at 773: in dbSNP:rs2744550, MIM: 600202<li>V->A at 774: in dbSNP:rs2817191, MIM: 600202<li>G->A at 919: in dbSNP:rs10946705, MIM: 600202<li>Y->C at 1013: in dbSNP:rs807534, MIM: 600202</ul>								Dyslexia (DYX2) [MIM:600202]	<li>rs10946705</li><li>rs2744559</li><li>rs4504469</li><li>rs807534</li><li>rs2817191</li><li>rs4576240</li><li>rs2744550</li>	2
Q5VV63	26033	<ul><li>S->N at 989: in dbSNP:rs1953758</ul>									rs1953758	2
Q5VV67	23082	<ul><li>S->G at 536: in dbSNP:rs17114388<li>P->R at 834: in dbSNP:rs17855877</ul>									<li>rs17855877</li><li>rs17114388</li>	2
Q5VVB8	253582	<ul><li>N->I at 60: in dbSNP:rs7760577<li>F->L at 80: in dbSNP:rs4629709<li>E->G at 86: in dbSNP:rs9492393<li>F->V at 111: in dbSNP:rs7776426</ul>									<li>rs7760577</li><li>rs4629709</li><li>rs7776426</li><li>rs9492393</li>	2
Q5VVJ2	114803	<ul><li>C->S at 200: in dbSNP:rs17118103<li>T->A at 264: in dbSNP:rs12139511<li>E->K at 825: in dbSNP:rs232777</ul>									<li>rs12139511</li><li>rs232777</li><li>rs17118103</li>	2
Q5VVM6	728621	<ul><li>H->N at 772: in dbSNP:rs16829829</ul>									rs16829829	2
Q5VVW2	84253	<ul><li>H->R at 108: in dbSNP:rs11550746<li>A->S at 752: in dbSNP:rs34608132</ul>									<li>rs34608132</li><li>rs11550746</li>	2
Q5VVY1		<ul><li>S->P at 148: in dbSNP:rs6427235</ul>									rs6427235	2
Q5VW36	54914	<ul><li>L->S at 166: in dbSNP:rs10511687<li>V->I at 234: in dbSNP:rs10441706<li>I->V at 523: in dbSNP:rs17832431<li>T->S at 718: in dbSNP:rs7875872<li>E->K at 721: in dbSNP:rs10964742<li>T->P at 1373: in dbSNP:rs3206852<li>K->E at 1668: in dbSNP:rs4977881</ul>									<li>rs10511687</li><li>rs10964742</li><li>rs17832431</li><li>rs10441706</li><li>rs4977881</li><li>rs7875872</li><li>rs3206852</li>	2
Q5VW38	57720	<ul><li>A->P at 189: in dbSNP:rs640343</ul>									rs640343	2
Q5VWC8	401494	<ul><li>T->A at 36: in dbSNP:rs2298260</ul>									rs2298260	2
Q5VWG9	83860	<ul><li>S->T at 349: in dbSNP:rs17366712<li>N->S at 442: in dbSNP:rs4747647<li>V->L at 598: in dbSNP:rs17366712<li>V->A at 696: in dbSNP:rs1244229<li>V->L at 696: in dbSNP:rs10795583<li>R->S at 927: in dbSNP:rs10795583</ul>									<li>rs10795583</li><li>rs4747647</li><li>rs1244229</li><li>rs17366712</li>	2
Q5VWI1	256536	<ul><li>P->Q at 339: in dbSNP:rs17857275<li>K->T at 437: in a colorectal cancer sample; somatic mutation<li>E->K at 529: in dbSNP:rs17857276<li>Q->K at 566: in dbSNP:rs17854242</ul>									<li>rs17857275</li><li>rs17857276</li><li>rs17854242</li>	2
Q5VWJ9	401548	<ul><li>D->H at 83: in dbSNP:rs2796036<li>P->A at 125: in dbSNP:rs10117709</ul>									<li>rs10117709</li><li>rs2796036</li>	2
Q5VWK5	149233	<ul><li>Q->H at 3: in dbSNP:rs1884444<li>T->N at 175: in dbSNP:rs11465797<li>P->L at 310: in dbSNP:rs7530511<li>R->Q at 381: associated with IBD17; has a protective effect against Crohn disease and psoriasis; dbSNP:rs11209026</ul>									<li>rs11465797</li><li>rs11209026</li><li>rs1884444</li><li>rs7530511</li>	2
Q5VWN6	54906	<ul><li>C->G at 499: in dbSNP:rs2254067<li>A->D at 630: in dbSNP:rs4748636<li>R->P at 1075: in dbSNP:rs2797491<li>V->M at 1206: in dbSNP:rs3814196<li>P->S at 1578: in dbSNP:rs17143175<li>V->A at 1679: in dbSNP:rs2669142<li>T->I at 1782: in dbSNP:rs11593253<li>K->R at 2288: in dbSNP:rs2275774<li>S->N at 2404: in dbSNP:rs2797501</ul>									<li>rs17143175</li><li>rs2797501</li><li>rs2797491</li><li>rs4748636</li><li>rs11593253</li><li>rs2275774</li><li>rs3814196</li><li>rs2669142</li><li>rs2254067</li>	2
Q5VWP3	90523	<ul><li>R->H at 6: in dbSNP:rs17625497<li>I->V at 159: in dbSNP:rs4712056<li>T->S at 320: in dbSNP:rs6934690</ul>									<li>rs4712056</li><li>rs17625497</li><li>rs6934690</li>	2
Q5VWT5	199920	<ul><li>I->M at 125: in dbSNP:rs17114336</ul>									rs17114336	2
Q5VWX1	202559	<ul><li>G->A at 308: in dbSNP:rs7449840</ul>									rs7449840	2
Q5VWZ2	127018	<ul><li>I->M at 131: in dbSNP:rs940570</ul>									rs940570	2
Q5VX52	64173	<ul><li>V->L at 153: in dbSNP:rs10493753</ul>									rs10493753	2
Q5VXI9	643418	<ul><li>T->N at 244: in dbSNP:rs10788611</ul>									rs10788611	2
Q5VXJ0	643414	<ul><li>M->I at 331: in dbSNP:rs1214464<li>I->T at 391: in dbSNP:rs17112457</ul>									<li>rs17112457</li><li>rs1214464</li>	2
Q5VXM1	200008	<ul><li>G->R at 244: in dbSNP:rs3766465</ul>									rs3766465	2
Q5VXU9	158401	<ul><li>T->S at 226: in dbSNP:rs10981047<li>H->R at 416: in dbSNP:rs7470491<li>I->T at 649: in dbSNP:rs1322257<li>M->L at 734: in dbSNP:rs11791445<li>R->K at 788: in dbSNP:rs7868266<li>N->K at 809: in dbSNP:rs7036568<li>Y->C at 932: in dbSNP:rs1407390<li>L->P at 968: in dbSNP:rs6477845<li>I->T at 1162: in dbSNP:rs1475110<li>E->G at 1174: in dbSNP:rs7869279<li>N->K at 1380: in dbSNP:rs1322254<li>R->C at 1425: in dbSNP:rs10981009</ul>									<li>rs1407390</li><li>rs7470491</li><li>rs1475110</li><li>rs6477845</li><li>rs10981009</li><li>rs1322254</li><li>rs7868266</li><li>rs11791445</li><li>rs1322257</li><li>rs10981047</li><li>rs7869279</li><li>rs7036568</li>	2
Q5VY09	51278	<ul><li>R->H at 92: in dbSNP:rs3747955<li>V->I at 168: in dbSNP:rs3747954<li>R->G at 194: in dbSNP:rs1416829<li>Q->R at 202: in dbSNP:rs1361365<li>P->S at 285: in dbSNP:rs3747951</ul>									<li>rs3747951</li><li>rs1416829</li><li>rs1361365</li><li>rs3747955</li><li>rs3747954</li>	2
Q5VY43	375033	<ul><li>S->P at 234: in dbSNP:rs1952294<li>R->H at 885: in dbSNP:rs11264581<li>N->D at 903: in dbSNP:rs12137505</ul>									<li>rs11264581</li><li>rs1952294</li><li>rs12137505</li>	2
Q5VY80	154064	<ul><li>R->G at 26: in dbSNP:rs1543547<li>M->T at 85: in dbSNP:rs912565<li>L->R at 106: in dbSNP:rs1555696</ul>									<li>rs912565</li><li>rs1555696</li><li>rs1543547</li>	2
Q5VYJ5		<ul><li>D->A at 318: in dbSNP:rs7100382<li>I->V at 329: in dbSNP:rs7100403<li>K->N at 409: in dbSNP:rs1609746<li>V->A at 469: in dbSNP:rs10827306<li>D->G at 565: in dbSNP:rs12773592<li>E->K at 568: in dbSNP:rs12771333<li>T->M at 673: in dbSNP:rs10763974<li>V->I at 714: in dbSNP:rs10763975<li>K->E at 789: in dbSNP:rs2184035<li>L->I at 805: in dbSNP:rs16918863<li>H->Q at 843: in dbSNP:rs12256835<li>M->T at 929: in dbSNP:rs7100661<li>P->S at 1017: in dbSNP:rs16919132<li>S->N at 1063: in dbSNP:rs10827628<li>M->R at 1135: in dbSNP:rs16919148</ul>									<li>rs10827306</li><li>rs12773592</li><li>rs10827628</li><li>rs16919132</li><li>rs1609746</li><li>rs2184035</li><li>rs12256835</li><li>rs10763974</li><li>rs7100403</li><li>rs10763975</li><li>rs16919148</li><li>rs12771333</li><li>rs16918863</li><li>rs7100382</li><li>rs7100661</li>	2
Q5VYM1	138724	<ul><li>W->L at 222: in dbSNP:rs615474<li>L->F at 285: in dbSNP:rs10117097<li>L->V at 437: in dbSNP:rs35523761<li>S->T at 623: in dbSNP:rs2298312<li>P->S at 916: in dbSNP:rs3739871</ul>									<li>rs10117097</li><li>rs3739871</li><li>rs2298312</li><li>rs615474</li><li>rs35523761</li>	2
Q5VYS4	84935	<ul><li>R->G at 59: in dbSNP:rs9531945</ul>									rs9531945	2
Q5VYS8	79670	<ul><li>A->V at 40: in dbSNP:rs2378695</ul>									rs2378695	2
Q5VYV7	128710	<ul><li>R->Q at 317: in dbSNP:rs6077853</ul>									rs6077853	2
Q5VYX0	55328	<ul><li>E->D at 37: in dbSNP:rs2296545</ul>									rs2296545	2
Q5VYY1	118932	<ul><li>E->G at 73: in dbSNP:rs17113412<li>Y->H at 79: in dbSNP:rs17851907<li>Q->P at 148: in dbSNP:rs2304804<li>R->I at 177: in dbSNP:rs7912706</ul>									<li>rs2304804</li><li>rs7912706</li><li>rs17113412</li><li>rs17851907</li>	2
Q5VYY2	340654	<ul><li>R->W at 418: in dbSNP:rs11202862</ul>									rs11202862	2
Q5VZ03	158046	<ul><li>S->C at 76: in dbSNP:rs17852066</ul>									rs17852066	2
Q5VZ19	126668	<ul><li>R->Q at 102: in dbSNP:rs12750774<li>V->I at 136: in dbSNP:rs3811448</ul>									<li>rs12750774</li><li>rs3811448</li>	2
Q5VZ46	57710	<ul><li>H->Y at 214: in dbSNP:rs3747959<li>R->W at 740: in dbSNP:rs17302207<li>L->F at 801: in dbSNP:rs3795504<li>D->N at 1078: in dbSNP:rs2331995</ul>									<li>rs3795504</li><li>rs2331995</li><li>rs17302207</li><li>rs3747959</li>	2
Q5VZ66	282973	<ul><li>M->V at 493: in dbSNP:rs11592585<li>R->G at 795: in a breast cancer sample; somatic mutation</ul>									rs11592585	2
Q5VZ89	55667	<ul><li>T->A at 1030: in dbSNP:rs17818730<li>N->H at 1107: in dbSNP:rs6475322</ul>									<li>rs6475322</li><li>rs17818730</li>	2
Q5VZB9	63951	<ul><li>R->C at 342: in a colorectal cancer sample; somatic mutation</ul>										2
Q5VZK9		<ul><li>V->I at 77: in dbSNP:rs9358856<li>P->L at 545: in dbSNP:rs12207840<li>A->G at 639: in dbSNP:rs7454756<li>N->S at 1117: in dbSNP:rs9885914</ul>									<li>rs7454756</li><li>rs12207840</li><li>rs9358856</li><li>rs9885914</li>	2
Q5VZL5	9202	<ul><li>V->I at 452: in dbSNP:rs34924462<li>R->W at 1410: in a colorectal cancer sample; somatic mutation</ul>									rs34924462	2
Q5VZP5	92235	<ul><li>E->D at 265: in dbSNP:rs267745<li>R->H at 466: in dbSNP:rs6668826<li>A->T at 505: in dbSNP:rs3795605<li>K->Q at 855: in dbSNP:rs267746<li>T->N at 1124: in dbSNP:rs2281959</ul>									<li>rs2281959</li><li>rs3795605</li><li>rs6668826</li><li>rs267745</li><li>rs267746</li>	2
Q5VZT2	387638	<ul><li>R->G at 62: in dbSNP:rs11591355<li>D->H at 100: in dbSNP:rs625223</ul>									<li>rs11591355</li><li>rs625223</li>	2
Q5VZV1	196541	<ul><li>N->S at 46: in dbSNP:rs16960383</ul>									rs16960383	2
Q5W041	219681	<ul><li>E->G at 345: in dbSNP:rs16922864<li>S->P at 608: in dbSNP:rs11013233<li>R->Q at 626: in dbSNP:rs10828395</ul>									<li>rs16922864</li><li>rs10828395</li><li>rs11013233</li>	2
Q5W064	142910	<ul><li>V->I at 210: in dbSNP:rs1409136</ul>									rs1409136	2
Q5W0A0	220081	<ul><li>E->D at 63: in dbSNP:rs12020217<li>E->G at 99: in dbSNP:rs12020731<li>S->T at 174: in dbSNP:rs17066954<li>E->K at 178: in dbSNP:rs3014939<li>L->P at 303: in dbSNP:rs11618506<li>T->I at 427: in dbSNP:rs749071<li>P->R at 439: in dbSNP:rs12429125<li>H->R at 453: in dbSNP:rs17066902<li>R->C at 565: in dbSNP:rs7327901<li>V->F at 653: in dbSNP:rs1536207</ul>									<li>rs12020731</li><li>rs7327901</li><li>rs17066902</li><li>rs11618506</li><li>rs12020217</li><li>rs1536207</li><li>rs12429125</li><li>rs749071</li><li>rs17066954</li><li>rs3014939</li>	2
Q5W0Q7	10208	<ul><li>E->G at 173: in dbSNP:rs17853512<li>P->S at 384: in dbSNP:rs3742303<li>A->P at 522: in dbSNP:rs17609459<li>L->S at 531: in dbSNP:rs7984952<li>I->V at 583: in dbSNP:rs41412648<li>S->C at 739: in dbSNP:rs9578190<li>L->I at 786: in dbSNP:rs35371042<li>S->N at 950: in dbSNP:rs3742302<li>T->S at 1043: in dbSNP:rs17857086</ul>									<li>rs17857086</li><li>rs17853512</li><li>rs35371042</li><li>rs41412648</li><li>rs7984952</li><li>rs9578190</li><li>rs17609459</li><li>rs3742303</li><li>rs3742302</li>	2
Q5W0U4	54836	<ul><li>A->P at 261: in dbSNP:rs34089316<li>Q->H at 293: in dbSNP:rs818711<li>T->I at 374: in dbSNP:rs3088235</ul>									<li>rs818711</li><li>rs34089316</li><li>rs3088235</li>	2
Q5W0V3	57700	<ul><li>L->I at 408: in dbSNP:rs17853717<li>F->L at 631: in dbSNP:rs3180654</ul>									<li>rs17853717</li><li>rs3180654</li>	2
Q5W186	128822	<ul><li>L->F at 48: in dbSNP:rs2983640</ul>									rs2983640	2
Q5XG87	11044	<ul><li>N->S at 326: in dbSNP:rs28381415<li>G->S at 396: in dbSNP:rs28381418</ul>									<li>rs28381415</li><li>rs28381418</li>	2
Q5XG99		<ul><li>A->V at 157: in dbSNP:rs8041089<li>A->V at 161: in dbSNP:rs8041078<li>A->G at 180: in dbSNP:rs2061007</ul>									<li>rs8041089</li><li>rs8041078</li><li>rs2061007</li>	2
Q5XKE5	338785	<ul><li>S->L at 81: in dbSNP:rs2638497<li>F->L at 195: in dbSNP:rs17855862<li>H->R at 266: in dbSNP:rs17688672<li>A->V at 393: in dbSNP:rs17688627</ul>									<li>rs17688672</li><li>rs17855862</li><li>rs17688627</li><li>rs2638497</li>	2
Q5XKL5	284697	<ul><li>V->I at 60: in dbSNP:rs34856868<li>K->R at 136: in dbSNP:rs17131602</ul>									<li>rs34856868</li><li>rs17131602</li>	2
Q5XPI4	63891	<ul><li>P->R at 51: in dbSNP:rs2960546<li>R->Q at 387: in dbSNP:rs35620248<li>K->E at 596: in dbSNP:rs35726701<li>R->H at 854: in dbSNP:rs34823813</ul>									<li>rs34823813</li><li>rs35726701</li><li>rs2960546</li><li>rs35620248</li>	2
Q5XX13	10517	<ul><li>I->N at 23: in dbSNP:rs11544711<li>A->T at 821: in dbSNP:rs1026259</ul>									<li>rs1026259</li><li>rs11544711</li>	2
Q5XXA6	55107	<ul><li>F->S at 608: in dbSNP:rs2186797<li>G->R at 983: in dbSNP:rs3740722</ul>									<li>rs3740722</li><li>rs2186797</li>	2
Q5ZPR3	80381	<ul><li>P->L at 97: in dbSNP:rs7173448<li>R->S at 111: in dbSNP:rs7173476<li>Q->L at 137: in dbSNP:rs11574477<li>T->M at 160: in dbSNP:rs11574479<li>R->H at 267: in dbSNP:rs11574483<li>A->T at 279: in dbSNP:rs10083681<li>P->L at 315: in dbSNP:rs7173448<li>R->S at 329: in dbSNP:rs7173476<li>T->M at 378: in dbSNP:rs11574479</ul>									<li>rs11574483</li><li>rs11574479</li><li>rs10083681</li><li>rs7173476</li><li>rs7173448</li><li>rs11574477</li>	2
Q60I27	259173	<ul><li>E->Q at 45: in dbSNP:rs7642448<li>Q->E at 280: in a breast cancer sample; somatic mutation<li>L->F at 576: in a breast cancer sample; somatic mutation</ul>									rs7642448	2
Q63HK3	342357	<ul><li>L->F at 253: in dbSNP:rs2112811<li>E->D at 615: in dbSNP:rs8059494</ul>									<li>rs2112811</li><li>rs8059494</li>	2
Q63HK5	57616	<ul><li>P->L at 687: in dbSNP:rs4805664</ul>									rs4805664	2
Q63HM2	64430	<ul><li>Q->H at 770: in dbSNP:rs3742642<li>D->Y at 811: in dbSNP:rs12895606<li>G->S at 1000: in dbSNP:rs167437</ul>									<li>rs12895606</li><li>rs3742642</li><li>rs167437</li>	2
Q63HN1		<ul><li>N->K at 72: in dbSNP:rs521552<li>D->E at 203: in dbSNP:rs524512<li>V->M at 229: in dbSNP:rs516485</ul>									<li>rs524512</li><li>rs521552</li><li>rs516485</li>	2
Q63HN8	57674	<ul><li>S->N at 407: in dbSNP:rs9674961<li>V->L at 1911: in dbSNP:rs35332090<li>H->R at 2764: in dbSNP:rs12944088<li>K->E at 2805: in dbSNP:rs12944385<li>V->I at 3101: in dbSNP:rs8072774</ul>									<li>rs12944088</li><li>rs35332090</li><li>rs9674961</li><li>rs8072774</li><li>rs12944385</li>	2
Q63HQ0	55435	<ul><li>T->I at 297: in dbSNP:rs34900583</ul>									rs34900583	2
Q63HQ2	133584	<ul><li>R->H at 111: in dbSNP:rs2561111<li>W->R at 229: in dbSNP:rs1465567<li>T->M at 473: in dbSNP:rs16903965<li>H->N at 576: in dbSNP:rs6897179</ul>									<li>rs2561111</li><li>rs6897179</li><li>rs16903965</li><li>rs1465567</li>	2
Q63HR2	23371	<ul><li>S->T at 353: in dnSNP:rs11170389<li>A->T at 670: in dbSNP:rs11558984</ul>									<li>rs11170389</li><li>rs11558984</li>	2
Q63ZY3	25959	<ul><li>G->S at 118: in dbSNP:rs755237<li>M->T at 401: in dbSNP:rs17616661</ul>									<li>rs755237</li><li>rs17616661</li>	2
Q63ZY6	260294	<ul><li>W->S at 47: in dbSNP:rs400282<li>A->V at 90: in dbSNP:rs395127<li>C->R at 272: in dbSNP:rs17145838<li>K->R at 303: in dbSNP:rs7056</ul>									<li>rs400282</li><li>rs17145838</li><li>rs395127</li><li>rs7056</li>	2
Q64LD2	79446	<ul><li>K->R at 59: in dbSNP:rs2273801<li>W->R at 88: in dbSNP:rs2181170<li>H->R at 149: in dbSNP:rs2273800</ul>									<li>rs2273801</li><li>rs2273800</li><li>rs2181170</li>	2
Q658L1	283726	<ul><li>S->G at 8: in dbSNP:rs11631813<li>P->L at 34: in dbSNP:rs16973457<li>W->R at 225: in dbSNP:rs11630197</ul>									<li>rs16973457</li><li>rs11631813</li><li>rs11630197</li>	2
Q658N2	23302	<ul><li>H->Y at 212: in dbSNP:rs17855415</ul>									rs17855415	2
Q658P3	55240	<ul><li>A->T at 184: in dbSNP:rs17013371</ul>									rs17013371	2
Q659C4	55132	<ul><li>P->R at 462: in dbSNP:rs12508837<li>R->H at 660: in dbSNP:rs12645577</ul>									<li>rs12508837</li><li>rs12645577</li>	2
Q66K14	23061	<ul><li>L->P at 240: in dbSNP:rs1057078<li>V->I at 706: in dbSNP:rs10037618<li>P->Q at 1086: in a breast cancer sample; somatic mutation<li>T->K at 1119: in dbSNP:rs30386</ul>									<li>rs30386</li><li>rs1057078</li><li>rs10037618</li>	2
Q66K74	55201	<ul><li>L->V at 372: in dbSNP:rs17710707<li>S->C at 411: in dbSNP:rs17710707<li>P->Q at 538: in dbSNP:rs7252905</ul>									<li>rs17710707</li><li>rs7252905</li>	2
Q66K79	8532	<ul><li>P->L at 5: in dbSNP:rs2302583<li>P->L at 6: in dbSNP:rs34964084<li>Q->L at 130: in dbSNP:rs35993494<li>T->I at 486: in dbSNP:rs7378066<li>T->M at 501: in dbSNP:rs9991535</ul>									<li>rs2302583</li><li>rs7378066</li><li>rs9991535</li><li>rs35993494</li><li>rs34964084</li>	2
Q66K80	284618	<ul><li>R->S at 231: in dbSNP:rs16836822</ul>									rs16836822	2
Q676U5	55054	<ul><li>T->A at 300: associated with susceptibility to IBD10; dbSNP:rs2241880<li>E->K at 307: in dbSNP:rs1866878</ul>									<li>rs1866878</li><li>rs2241880</li>	2
Q67FW5	146712	<ul><li>A->T at 341: in dbSNP:rs7225887</ul>									rs7225887	2
Q684P5	23108	<ul><li>L->M at 202: in dbSNP:rs17762452</ul>									rs17762452	2
Q685J3	140453	<ul><li>K->Q at 227: in dbSNP:rs10229731<li>G->E at 272: in dbSNP:rs10259584<li>R->S at 942: in dbSNP:rs10238201<li>T->M at 982: in dbSNP:rs4729646<li>I->T at 1130: in dbSNP:rs4729647<li>S->T at 1242: in dbSNP:rs10265276<li>T->N at 1246: in dbSNP:rs4729652<li>T->S at 1246: in dbSNP:rs4729651<li>P->A at 1249: in dbSNP:rs4729653<li>L->P at 1348: in dbSNP:rs4269454<li>C->R at 1375: in dbSNP:rs4367469<li>D->N at 4334: in dbSNP:rs6946812<li>R->Q at 4482: in dbSNP:rs9656065</ul>									<li>rs9656065</li><li>rs10259584</li><li>rs10238201</li><li>rs4729652</li><li>rs4729653</li><li>rs6946812</li><li>rs4729647</li><li>rs10265276</li><li>rs10229731</li><li>rs4729646</li><li>rs4269454</li><li>rs4367469</li><li>rs4729651</li>	2
Q687X5	79689	<ul><li>G->D at 75: in dbSNP:rs1981529<li>A->T at 122: in dbSNP:rs34741656</ul>									<li>rs1981529</li><li>rs34741656</li>	2
Q68BL7	169611	<ul><li>T->A at 309: in dbSNP:rs7874348<li>R->Q at 425: in dbSNP:rs16927649</ul>									<li>rs7874348</li><li>rs16927649</li>	2
Q68BL8	25903	<ul><li>Y->C at 10: in dbSNP:rs12130792<li>W->R at 470: in dbSNP:rs2499836</ul>									<li>rs2499836</li><li>rs12130792</li>	2
Q68CJ6	389643	<ul><li>P->R at 23: in dbSNP:rs6998705<li>S->G at 180: in dbSNP:rs4732620<li>R->Q at 328: in dbSNP:rs7817227<li>S->N at 474: in dbSNP:rs13279787</ul>									<li>rs4732620</li><li>rs6998705</li><li>rs13279787</li><li>rs7817227</li>	2
Q68CL5	25941	<ul><li>R->C at 47: in dbSNP:rs2303507</ul>									rs2303507	2
Q68CP4		<ul><li>P->L at 311: in MPS3C, MIM: 252930<li>R->C at 372: in MPS3C, MIM: 252930<li>G->S at 452: in MPS3C, MIM: 252930<li>E->K at 499: in MPS3C, MIM: 252930<li>M->K at 510: in MPS3C, MIM: 252930<li>S->L at 569: in MPS3C, MIM: 252930<li>D->V at 590: in MPS3C, MIM: 252930<li>P->L at 599: in MPS3C, MIM: 252930</ul>								Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]		2
Q68CQ1	374977	<ul><li>H->R at 182: in dbSNP:rs11206407<li>S->Y at 183: in a breast cancer sample; somatic mutation<li>V->M at 290: in dbSNP:rs12094920<li>Y->D at 306: in dbSNP:rs1655519<li>S->F at 312: in dbSNP:rs17399810<li>E->G at 316: in dbSNP:rs1655518<li>T->M at 352: in dbSNP:rs12074499<li>K->R at 455: in dbSNP:rs2304314<li>V->A at 509: in dbSNP:rs480963<li>R->H at 618: in dbSNP:rs570218</ul>									<li>rs480963</li><li>rs2304314</li><li>rs1655518</li><li>rs17399810</li><li>rs1655519</li><li>rs570218</li><li>rs12094920</li><li>rs11206407</li><li>rs12074499</li>	2
Q68CQ4	27042	<ul><li>Q->E at 67: in dbSNP:rs585627</ul>									rs585627	2
Q68CQ7	55830	<ul><li>R->H at 210: in dbSNP:rs2276812</ul>									rs2276812	2
Q68CR1	23231	<ul><li>Q->R at 107: in dbSNP:rs16877661<li>I->V at 401: in dbSNP:rs16877591<li>I->V at 554: in dbSNP:rs16877591<li>W->C at 1054: in dbSNP:rs2286866<li>P->S at 1122: in dbSNP:rs7671168</ul>									<li>rs16877661</li><li>rs16877591</li><li>rs2286866</li><li>rs7671168</li>	2
Q68CR7	339977	<ul><li>G->A at 342: in dbSNP:rs17081784</ul>									rs17081784	2
Q68CZ1	23322	<ul><li>T->P at 615: in JBTS7; affects interaction with NPHP4, MIM: 611560<li>T->I at 677: in a patient with cystic kidney dysplasia, retinitis pigmentosa and cerebellar ataxia without molar tooth sign; affects interaction with NPHP4, MIM: 611560<li>A->P at 695: in JBTS7; seems not to affect interaction with NPHP4, MIM: 611560<li>R->Q at 744: in dbSNP:rs2302677, MIM: 611560<li>G->S at 1025: in dbSNP:rs2111119, MIM: 611560<li>D->N at 1264: in dbSNP:rs3213758, MIM: 611560</ul>							O75161	Joubert syndrome type 7 (JBTS7) [MIM:611560]	<li>rs3213758</li><li>rs2111119</li><li>rs2302677</li>	2
Q68CZ2	64759	<ul><li>Q->H at 600: in dbSNP:rs2293362<li>G->S at 679: in dbSNP:rs7808646<li>E->K at 1034: in dbSNP:rs3807590</ul>									<li>rs7808646</li><li>rs3807590</li><li>rs2293362</li>	2
Q68CZ6	79441	<ul><li>I->T at 586: in dbSNP:rs11937432</ul>									rs11937432	2
Q68D06	146857	<ul><li>N->S at 4: in dbSNP:rs12943866<li>A->T at 50: in dbSNP:rs7216628<li>P->L at 433: in dbSNP:rs16970912<li>D->V at 642: in dbSNP:rs11657183<li>E->K at 652: in dbSNP:rs3744371</ul>									<li>rs11657183</li><li>rs12943866</li><li>rs3744371</li><li>rs7216628</li><li>rs16970912</li>	2
Q68D10	144108	<ul><li>S->F at 317: in dbSNP:rs12795406<li>R->Q at 447: in dbSNP:rs16935599<li>K->R at 617: in dbSNP:rs35411689</ul>									<li>rs16935599</li><li>rs12795406</li><li>rs35411689</li>	2
Q68D51	163259	<ul><li>D->E at 2: in dbSNP:rs7541738<li>D->G at 170: in dbSNP:rs12136548</ul>									<li>rs12136548</li><li>rs7541738</li>	2
Q68D86	79839	<ul><li>K->N at 153: in dbSNP:rs572020<li>K->R at 298: in dbSNP:rs2187094<li>C->F at 346: in dbSNP:rs745894<li>E->G at 370: in dbSNP:rs34102373<li>N->K at 425: in dbSNP:rs17080065<li>A->P at 429: in dbSNP:rs9963788</ul>									<li>rs17080065</li><li>rs34102373</li><li>rs9963788</li><li>rs2187094</li><li>rs745894</li><li>rs572020</li>	2
Q68D91	153364	<ul><li>A->T at 128: in dbSNP:rs2162986</ul>									rs2162986	2
Q68DA7		<ul><li>L->P at 686: in dbSNP:rs2306277</ul>									rs2306277	2
Q68DC2	203286	<ul><li>V->I at 644: in dbSNP:rs6415847</ul>									rs6415847	2
Q68DD2	255189	<ul><li>G->V at 30: in dbSNP:rs636604<li>V->M at 740: in dbSNP:rs1356410</ul>									<li>rs1356410</li><li>rs636604</li>	2
Q68DE3		<ul><li>A->P at 222: in dbSNP:rs9866806<li>A->V at 1963: in dbSNP:rs2290477</ul>									<li>rs9866806</li><li>rs2290477</li>	2
Q68DK2	23503	<ul><li>K->E at 429: in dbSNP:rs34059852<li>T->S at 898: in dbSNP:rs17192170<li>T->M at 951: in dbSNP:rs35471427<li>S->N at 1071: in dbSNP:rs7156206<li>P->L at 1103: in dbSNP:rs3742885<li>A->V at 1122: in dbSNP:rs3742884<li>A->E at 1164: in a breast cancer sample; somatic mutation<li>Y->C at 1457: in dbSNP:rs2235967<li>S->N at 1891: in dbSNP:rs3742883<li>R->Q at 1945: in a breast cancer sample; somatic mutation<li>R->H at 2411: in dbSNP:rs34373049</ul>									<li>rs2235967</li><li>rs3742885</li><li>rs17192170</li><li>rs3742883</li><li>rs34059852</li><li>rs3742884</li><li>rs35471427</li><li>rs34373049</li><li>rs7156206</li>	2
Q68DN1	84226	<ul><li>R->G at 357: in dbSNP:rs17006143<li>D->V at 505: in dbSNP:rs13410886<li>T->S at 655: in dbSNP:rs1919125<li>A->E at 660: in dbSNP:rs1919126<li>V->A at 685: in dbSNP:rs1919127<li>I->T at 767: in dbSNP:rs13416968<li>I->V at 774: in dbSNP:rs1919128<li>S->F at 1500: in dbSNP:rs12618071<li>H->Y at 1559: in dbSNP:rs13392197<li>N->S at 1613: in dbSNP:rs13031957<li>S->P at 1665: in dbSNP:rs28381983</ul>									<li>rs28381983</li><li>rs13392197</li><li>rs1919125</li><li>rs17006143</li><li>rs13031957</li><li>rs12618071</li><li>rs1919127</li><li>rs13416968</li><li>rs1919126</li><li>rs1919128</li><li>rs13410886</li>	2
Q68DQ2	131544	<ul><li>R->H at 433: in dbSNP:rs11918990<li>Y->C at 761: in dbSNP:rs17302349<li>N->H at 926: in dbSNP:rs4857302</ul>									<li>rs11918990</li><li>rs4857302</li><li>rs17302349</li>	2
Q68DV7	54894	<ul><li>I->V at 47: in dbSNP:rs3744093<li>R->H at 117: in dbSNP:rs2257205<li>R->Q at 221: in dbSNP:rs2285990<li>P->L at 231: in dbSNP:rs2680701<li>R->H at 343: in dbSNP:rs34523089<li>L->M at 418: in dbSNP:rs2526374<li>P->R at 686: in dbSNP:rs9652855</ul>									<li>rs3744093</li><li>rs2526374</li><li>rs2285990</li><li>rs34523089</li><li>rs9652855</li><li>rs2680701</li><li>rs2257205</li>	2
Q68DX3	143162	<ul><li>R->W at 727: in a colorectal cancer sample; somatic mutation</ul>										2
Q68DY1	199777	<ul><li>N->D at 31: in dbSNP:rs3206157<li>M->T at 65: in dbSNP:rs8106117<li>N->H at 68: in dbSNP:rs3209058<li>Q->E at 89: in dbSNP:rs8111015<li>S->N at 90: in dbSNP:rs8110802<li>C->Y at 464: in dbSNP:rs4809072<li>E->K at 500: in dbSNP:rs10408597</ul>									<li>rs8106117</li><li>rs3209058</li><li>rs10408597</li><li>rs3206157</li><li>rs8111015</li><li>rs4809072</li><li>rs8110802</li>	2
Q68DY9	400720	<ul><li>C->W at 182: in dbSNP:rs2074060<li>M->L at 218: in dbSNP:rs2074059</ul>									<li>rs2074060</li><li>rs2074059</li>	2
Q68EA5	126295	<ul><li>T->N at 223: in dbSNP:rs2288958<li>R->W at 230: in dbSNP:rs2288957</ul>									<li>rs2288957</li><li>rs2288958</li>	2
Q68G75	93273	<ul><li>P->S at 25: in dbSNP:rs7531012</ul>									rs7531012	2
Q68J44	338599	<ul><li>D->N at 66: in dbSNP:rs11594934<li>S->R at 137: in dbSNP:rs16931938</ul>									<li>rs11594934</li><li>rs16931938</li>	2
Q693B1	147040	<ul><li>G->S at 22: in dbSNP:rs8080182</ul>									rs8080182	2
Q695T7	340024	<ul><li>R->C at 57: in HND; abolishes transport activity, MIM: 234500<li>D->N at 173: in HND; population allele frequency among Europeans is 0.007; reduces transport activity by 50% but does not completely inactivates the transporter, MIM: 234500<li>R->Q at 240, MIM: 234500<li>L->P at 242: in HND; completely abolishes the transport activity, MIM: 234500<li>V->I at 252: in dbSNP:rs7732589, MIM: 234500<li>E->K at 501: in HND; completely abolishes the transport activity, MIM: 234500</ul>	transport	GO:0006810						Hartnup disorder (HND) [MIM:234500]	rs7732589	2
Q69YH5	157313	<ul><li>I->V at 718: in dbSNP:rs4872318<li>R->S at 885: in dbSNP:rs3829009</ul>									<li>rs4872318</li><li>rs3829009</li>	2
Q69YN2	55280	<ul><li>C->Y at 160: in dbSNP:rs2270962<li>P->L at 259: in dbSNP:rs7073610<li>R->H at 523: in dbSNP:rs35490714<li>R->Q at 526: in dbSNP:rs7922946</ul>									<li>rs35490714</li><li>rs7073610</li><li>rs2270962</li><li>rs7922946</li>	2
Q69YN4	25962	<ul><li>I->V at 753: in dbSNP:rs7814840</ul>									rs7814840	2
Q6A162	125115	<ul><li>T->A at 37: in dbSNP:rs1510069<li>F->S at 85: in dbSNP:rs17843015<li>S->N at 102: in dbSNP:rs1510068<li>T->M at 153: in dbSNP:rs9908304<li>R->H at 235: in dbSNP:rs2010027<li>C->Y at 265: in dbSNP:rs721957<li>E->D at 286: in dbSNP:rs721958<li>M->T at 303: in dbSNP:rs9908389<li>S->L at 406: in dbSNP:rs16968862</ul>									<li>rs1510069</li><li>rs1510068</li><li>rs9908304</li><li>rs17843015</li><li>rs9908389</li><li>rs2010027</li><li>rs16968862</li><li>rs721957</li><li>rs721958</li>	2
Q6A163	390792	<ul><li>T->M at 341: in dbSNP:rs17843021<li>L->M at 383: in dbSNP:rs17843023<li>R->Q at 456: in dbSNP:rs7213256</ul>									<li>rs7213256</li><li>rs17843023</li><li>rs17843021</li>	2
Q6AHZ1	9849	<ul><li>N->H at 946: in dbSNP:rs3814228<li>R->Q at 1328: in dbSNP:rs3814226</ul>									<li>rs3814228</li><li>rs3814226</li>	2
Q6AI08	63897	<ul><li>A->V at 71: in dbSNP:rs3744376<li>S->L at 1006: in dbSNP:rs16943991</ul>									<li>rs3744376</li><li>rs16943991</li>	2
Q6AW86	388569	<ul><li>S->G at 63: in dbSNP:rs12611254</ul>									rs12611254	2
Q6AWC2	80014	<ul><li>A->S at 773: in dbSNP:rs11941467<li>V->F at 816: in dbSNP:rs11734376<li>D->H at 904: in dbSNP:rs3814422<li>A->T at 1189: in dbSNP:rs4862155</ul>									<li>rs4862155</li><li>rs11941467</li><li>rs3814422</li><li>rs11734376</li>	2
Q6AZY7	51435	<ul><li>R->Q at 130: in dbSNP rsrs34791518<li>M->T at 325: in dbSNP rsrs33930667<li>R->Q at 423: in dbSNP rsrs3735754<li>V->I at 428: in dbSNP rsrs34086286<li>F->L at 467: in dbSNP:rs17057523<li>P->S at 551: in dbSNP rsrs35928641</ul>									<li>rs33930667</li><li>rs17057523</li><li>rs35928641</li><li>rs3735754</li><li>rs34086286</li><li>rs34791518</li>	2
Q6AZZ1	55128	<ul><li>C->Y at 442: in dbSNP:rs2231975</ul>									rs2231975	2
Q6B0I6		<ul><li>R->Q at 405: in dbSNP:rs3740853</ul>									rs3740853	2
Q6B9Z1	444882	<ul><li>L->P at 25: in dbSNP:rs10412490<li>R->Q at 60: in dbSNP:rs17271272</ul>									<li>rs17271272</li><li>rs10412490</li>	2
Q6BCY4	51700	<ul><li>E->A at 15: in dbSNP:rs11041525<li>N->D at 209: in dbSNP:rs12801394</ul>									<li>rs11041525</li><li>rs12801394</li>	2
Q6BDI9		<ul><li>D->N at 101: in dbSNP:rs929949<li>E->D at 206: in dbSNP:rs12819160</ul>									<li>rs929949</li><li>rs12819160</li>	2
Q6BDS2	54887	<ul><li>K->N at 404: in dbSNP:rs16894945<li>Q->R at 454: in dbSNP:rs11755393<li>K->E at 854: in dbSNP:rs3734265<li>Q->H at 984: in dbSNP:rs9469913<li>M->T at 1098: in dbSNP:rs13205210</ul>									<li>rs13205210</li><li>rs11755393</li><li>rs16894945</li><li>rs9469913</li><li>rs3734265</li>	2
Q6BEB4	389058	<ul><li>A->T at 75: in dbSNP:rs3749036</ul>									rs3749036	2
Q6DD87	126208	<ul><li>G->A at 379: in dbSNP:rs4077285</ul>									rs4077285	2
Q6DHV5	387707	<ul><li>N->D at 64: in dbSNP:rs17383738<li>Y->H at 237: in dbSNP:rs9943393<li>Q->L at 322: in dbSNP:rs1336459</ul>									<li>rs1336459</li><li>rs9943393</li><li>rs17383738</li>	2
Q6DJT9	5324	<ul><li>P->T at 458: in dbSNP:rs35883156</ul>									rs35883156	2
Q6DKI7	79037	<ul><li>N->D at 81: in dbSNP:rs2906645</ul>									rs2906645	2
Q6DN12	55784	<ul><li>A->T at 877: in dbSNP:rs34193492</ul>									rs34193492	2
Q6DN14	79772	<ul><li>R->K at 612: in dbSNP:rs9885412</ul>									rs9885412	2
Q6DN72	343413	<ul><li>S->G at 427: in dbSNP:rs4443889</ul>									rs4443889	2
Q6DN90	9922	<ul><li>P->S at 640: in dbSNP:rs35319679<li>V->I at 882: in dbSNP:rs17541405</ul>									<li>rs35319679</li><li>rs17541405</li>	2
Q6DT37	55561	<ul><li>P->L at 168: in dbSNP rsrs34454471<li>S->F at 280: in a glioblastoma multiforme sample; somatic mutation<li>T->P at 362: in dbSNP rsrs55688429<li>A->D at 537: in dbSNP rsrs34241745</ul>									<li>rs34241745</li><li>rs55688429</li><li>rs34454471</li>	2
Q6E0U4	93099	<ul><li>A->D at 13: in a colorectal cancer sample; somatic mutation<li>A->S at 415: in dbSNP:rs2293696<li>D->A at 427: in dbSNP:rs909072</ul>									<li>rs2293696</li><li>rs909072</li>	2
Q6ECI4	388566	<ul><li>V->L at 23: in dbSNP:rs10421285<li>K->R at 254: in dbSNP:rs3752179<li>I->T at 418: in dbSNP:rs4801177</ul>									<li>rs4801177</li><li>rs10421285</li><li>rs3752179</li>	2
Q6EEV4	81488	<ul><li>A->P at 127: in dbSNP:rs11858659</ul>									rs11858659	2
Q6EEV6	387082	<ul><li>M->V at 55: may be associated with susceptibility to type 1 diabetes; greater NFKB1 transcriptional activity and IL12B expression; dbSNP:rs237025</ul>							<li>Q865Y3</li><li>Q28234</li><li>Q61729</li><li>Q28938</li><li>Q865W9</li><li>Q91ZK7</li><li>Q04861</li><li>P29460</li><li>P19838</li><li>Q2PE76</li><li>Q28268</li><li>Q924V5</li><li>Q9XSQ5</li><li>P68220</li><li>P68221</li><li>Q8CJE6</li><li>P46282</li><li>P48095</li><li>Q6F3J0</li><li>O02744</li><li>Q866G3</li><li>P46658</li>		rs237025	2
Q6EMK4	114990	<ul><li>E->A at 384: in dbSNP:rs3810818</ul>									rs3810818	2
Q6FHJ7	6424	<ul><li>P->T at 320: in dbSNP:rs1802073<li>R->K at 340: in dbSNP:rs1802074</ul>									<li>rs1802073</li><li>rs1802074</li>	2
Q6FI81	57019	<ul><li>A->E at 34: in dbSNP:rs11557672<li>Q->E at 52: in dbSNP:rs11557674</ul>									<li>rs11557672</li><li>rs11557674</li>	2
Q6GMV1	200810	<ul><li>D->N at 135: in dbSNP:rs3828357<li>I->T at 159: in dbSNP:rs3811679<li>G->S at 184: in dbSNP:rs3187686</ul>									<li>rs3828357</li><li>rs3187686</li><li>rs3811679</li>	2
Q6GPH4	54739	<ul><li>E->G at 85: in dbSNP:rs34195599<li>R->H at 132: in dbSNP:rs2271232<li>E->K at 188: in dbSNP:rs34625877<li>R->I at 219: in dbSNP:rs3736433</ul>									<li>rs34195599</li><li>rs3736433</li><li>rs34625877</li><li>rs2271232</li>	2
Q6GPH6	150771	<ul><li>G->R at 280: in dbSNP:rs17853311<li>S->C at 428: in dbSNP:rs35855657<li>T->M at 463: in dbSNP:rs2279105</ul>									<li>rs2279105</li><li>rs35855657</li><li>rs17853311</li>	2
Q6GTS8	148811	<ul><li>H->Y at 33: in dbSNP:rs11540014<li>V->I at 149: in dbSNP:rs1891460<li>R->W at 153: in dbSNP:rs1104899<li>I->T at 237: in dbSNP:rs7518979<li>S->C at 258: in dbSNP:rs11581214<li>G->R at 346: in dbSNP:rs11240573<li>I->T at 380: in dbSNP:rs1361754</ul>									<li>rs1891460</li><li>rs11240573</li><li>rs1361754</li><li>rs11581214</li><li>rs11540014</li><li>rs7518979</li><li>rs1104899</li>	2
Q6GTX8	3903	<ul><li>E->D at 63: in dbSNP:rs3745442</ul>									rs3745442	2
Q6GV28	338661	<ul><li>C->R at 196: in dbSNP:rs1939927</ul>									rs1939927	2
Q6GYQ0	253959	<ul><li>T->A at 931: in dbSNP:rs2274068</ul>									rs2274068	2
Q6H3X3	353091	<ul><li>T->R at 70: in dbSNP:rs9397449</ul>									rs9397449	2
Q6H9L7	145501	<ul><li>A->T at 94: in dbSNP:rs3742728<li>P->A at 133: in dbSNP:rs11850175</ul>									<li>rs11850175</li><li>rs3742728</li>	2
Q6HA08		<ul><li>R->Q at 222: in dbSNP:rs749458</ul>									rs749458	2
Q6IA69	55191	<ul><li>V->L at 74: in dbSNP:rs2276360</ul>									rs2276360	2
Q6IA86	55250	<ul><li>T->P at 128: in dbSNP:rs1785934<li>V->M at 305: in dbSNP:rs1785928<li>H->R at 359: in dbSNP:rs16967474<li>I->T at 541: in dbSNP:rs28463092<li>T->P at 543: in dbSNP:rs17563617<li>E->G at 795: in dbSNP:rs12607773<li>H->P at 806: in dbSNP:rs1044128<li>T->P at 815: in dbSNP:rs1044134</ul>									<li>rs28463092</li><li>rs1044134</li><li>rs1044128</li><li>rs1785928</li><li>rs1785934</li><li>rs12607773</li><li>rs17563617</li><li>rs16967474</li>	2
Q6IAA8	55004	<ul><li>S->L at 73: in dbSNP:rs1053443</ul>									rs1053443	2
Q6IB77	10249	<ul><li>S->T at 17: in dbSNP:rs10896818<li>S->N at 156: in dbSNP:rs675815</ul>									<li>rs10896818</li><li>rs675815</li>	2
Q6IBS0	11344	<ul><li>R->C at 72: in dbSNP:rs35114109<li>Q->R at 76: in dbSNP rsrs35711542<li>A->T at 103: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>									<li>rs35114109</li><li>rs35711542</li>	2
Q6IC83	150297	<ul><li>L->P at 73: in dbSNP:rs5998267<li>E->K at 217: in dbSNP:rs41344647</ul>									<li>rs5998267</li><li>rs41344647</li>	2
Q6IC98	23151	<ul><li>S->I at 159: in dbSNP rsrs36211078</ul>									rs36211078	2
Q6ICB4	150368	<ul><li>A->G at 188: in dbSNP:rs1807493</ul>									rs1807493	2
Q6ICG8	164684	<ul><li>Q->E at 5: in dbSNP:rs17002790<li>D->G at 121: in dbSNP:rs133335<li>C->F at 170: in dbSNP:rs17002802<li>Q->H at 285: in dbSNP:rs2301521</ul>									<li>rs17002802</li><li>rs133335</li><li>rs17002790</li><li>rs2301521</li>	2
Q6ICL3	128989	<ul><li>D->N at 125: in dbSNP:rs17855650<li>E->K at 200: in dbSNP:rs17854107<li>D->E at 245: in dbSNP:rs16982614</ul>									<li>rs16982614</li><li>rs17855650</li><li>rs17854107</li>	2
Q6IE81	79960	<ul><li>N->S at 662: in dbSNP:rs6855813</ul>									rs6855813	2
Q6IEE8		<ul><li>S->L at 307: in dbSNP:rs12451679<li>A->G at 405: in dbSNP:rs2304967<li>C->Y at 462: in dbSNP:rs2304968<li>Y->S at 550: in dbSNP:rs3744372</ul>									<li>rs2304967</li><li>rs2304968</li><li>rs12451679</li><li>rs3744372</li>	2
Q6IEG0	154007	<ul><li>P->L at 45: in dbSNP:rs2757594<li>R->Q at 281: in dbSNP:rs3823184</ul>									<li>rs3823184</li><li>rs2757594</li>	2
Q6IEU7	390167	<ul><li>V->L at 69: in dbSNP:rs10792043<li>I->T at 313: in dbSNP:rs10896488</ul>									<li>rs10792043</li><li>rs10896488</li>	2
Q6IF42	442361	<ul><li>L->P at 210: in dbSNP:rs10252253</ul>									rs10252253	2
Q6IF63	120787	<ul><li>H->R at 239: in dbSNP:rs10839531<li>L->Q at 254: in dbSNP:rs11040799<li>T->A at 266: in dbSNP:rs325609</ul>									<li>rs11040799</li><li>rs10839531</li><li>rs325609</li>	2
Q6IF82	403253	<ul><li>G->D at 82: in dbSNP:rs12805819<li>I->L at 104: in dbSNP:rs7103557<li>V->M at 145: in dbSNP:rs7103992<li>A->D at 192: in dbSNP:rs7103932</ul>									<li>rs7103932</li><li>rs7103557</li><li>rs12805819</li><li>rs7103992</li>	2
Q6IF99	391107	<ul><li>A->T at 208: in dbSNP:rs12240099</ul>									rs12240099	2
Q6IFN5	26648	<ul><li>S->F at 193: in dbSNP:rs12980833<li>P->S at 242: in dbSNP:rs2240928</ul>									<li>rs2240928</li><li>rs12980833</li>	2
Q6IMI4	391365	<ul><li>A->T at 23: in dbSNP:rs45552433<li>V->D at 37: in dbSNP:rs45626240<li>K->E at 50: in dbSNP:rs45493492<li>E->V at 129: in dbSNP:rs7425881<li>R->S at 143: in dbSNP:rs45439591<li>K->R at 258: in dbSNP:rs45495394</ul>									<li>rs45552433</li><li>rs45493492</li><li>rs7425881</li><li>rs45626240</li><li>rs45495394</li><li>rs45439591</li>	2
Q6IMI6	442038	<ul><li>A->T at 88: in dbSNP:rs11903659<li>Y->C at 148: in dbSNP:rs17035911<li>G->R at 179: in dbSNP:rs2219078<li>M->T at 194: in dbSNP:rs6722745</ul>									<li>rs2219078</li><li>rs17035911</li><li>rs6722745</li><li>rs11903659</li>	2
Q6IMN6	65981	<ul><li>P->S at 114: in dbSNP:rs17688567<li>K->R at 237: in dbSNP:rs12146709<li>M->V at 519: in dbSNP:rs2304630<li>S->L at 655: in dbSNP:rs2304628</ul>									<li>rs2304630</li><li>rs17688567</li><li>rs2304628</li><li>rs12146709</li>	2
Q6IPM2	23288	<ul><li>H->N at 101: in dbSNP:rs11976972<li>A->V at 546: in dbSNP:rs2293404<li>R->H at 587: in dbSNP:rs10950797<li>T->A at 596: in dbSNP:rs2293407<li>L->V at 666: in dbSNP:rs3735109<li>T->M at 690: in dbSNP:rs1061566</ul>									<li>rs2293407</li><li>rs1061566</li><li>rs3735109</li><li>rs2293404</li><li>rs10950797</li><li>rs11976972</li>	2
Q6IPR3	127253	<ul><li>R->Q at 110: in dbSNP:rs11538281<li>M->V at 121: in dbSNP:rs1133891</ul>									<li>rs11538281</li><li>rs1133891</li>	2
Q6IPT2	112703	<ul><li>S->I at 206: in dbSNP:rs736769</ul>									rs736769	2
Q6IPT4	606495	<ul><li>R->K at 46: in dbSNP:rs946448</ul>									rs946448	2
Q6IQ16	339745	<ul><li>R->Q at 45: in dbSNP:rs36099753</ul>									rs36099753	2
Q6IQ20	222236	<ul><li>S->A at 152: in dbSNP:rs12540583<li>D->N at 389: in dbSNP:rs3181009</ul>									<li>rs3181009</li><li>rs12540583</li>	2
Q6IQ23	144100	<ul><li>L->I at 241: in dbSNP:rs35908144<li>A->V at 248: in dbSNP:rs16933529<li>Q->R at 279: in dbSNP:rs369819<li>V->I at 693: in dbSNP:rs34556458</ul>									<li>rs369819</li><li>rs35908144</li><li>rs16933529</li><li>rs34556458</li>	2
Q6IQ26	23258	<ul><li>Q->E at 224: in dbSNP:rs952374</ul>									rs952374	2
Q6IQ49	163859	<ul><li>M->I at 312: in dbSNP:rs34348128</ul>									rs34348128	2
Q6IQ55	146057	<ul><li>L->P at 8: in dbSNP:rs6493068<li>R->Q at 120: in dbSNP:rs35328266<li>T->A at 313: in dbSNP rsrs56017612<li>V->M at 440: in dbSNP rsrs56311523<li>R->P at 500: in dbSNP rsrs56039839<li>D->G at 635: in a lung small cell carcinoma sample; somatic mutation<li>T->I at 1062: in dbSNP rsrs55833708<li>T->M at 1084: in dbSNP:rs34348991<li>V->A at 1097: in dbSNP rsrs55796513<li>P->R at 1122: in dbSNP rsrs56142516<li>K->T at 1241: in dbSNP:rs36104367</ul>									<li>rs55833708</li><li>rs56039839</li><li>rs36104367</li><li>rs34348991</li><li>rs56311523</li><li>rs55796513</li><li>rs35328266</li><li>rs56017612</li><li>rs6493068</li><li>rs56142516</li>	2
Q6ISB3	79977	<ul><li>V->I at 415: in dbSNP:rs3779617</ul>									rs3779617	2
Q6ISS4	3904	<ul><li>G->S at 78: in dbSNP:rs36121405<li>H->R at 87: in dbSNP:rs34423078<li>F->Y at 115: in dbSNP:rs34429135</ul>									<li>rs34423078</li><li>rs34429135</li><li>rs36121405</li>	2
Q6ISU1	171558	<ul><li>V->I at 106: in dbSNP:rs9471966<li>A->T at 183: in dbSNP:rs36111725</ul>									<li>rs36111725</li><li>rs9471966</li>	2
Q6IV72	155054	<ul><li>D->V at 166: in dbSNP:rs6965052</ul>									rs6965052	2
Q6IWH7	50636	<ul><li>V->I at 67: in dbSNP:rs2302054</ul>									rs2302054	2
Q6J4K2	80024	<ul><li>R->C at 222: in dbSNP:rs16942745<li>L->F at 358: in dbSNP:rs3764034</ul>									<li>rs3764034</li><li>rs16942745</li>	2
Q6J9G0	55359	<ul><li>R->G at 71: in dbSNP:rs6650202<li>G->S at 204: in dbSNP:rs3759259<li>R->W at 210: in dbSNP rsrs34981955<li>L->S at 237: in dbSNP rsrs55877878<li>R->H at 379: in dbSNP rsrs34638573<li>V->I at 395: in a glioblastoma multiforme sample; somatic mutation<li>V->L at 400: in dbSNP rsrs55766125</ul>									<li>rs34981955</li><li>rs6650202</li><li>rs3759259</li><li>rs55877878</li><li>rs55766125</li><li>rs34638573</li>	2
Q6JBY9	92241	<ul><li>Q->R at 384: in dbSNP:rs34699420</ul>									rs34699420	2
Q6JQN1	80724	<ul><li>Q->R at 200: in dbSNP:rs35276160<li>T->P at 216: in dbSNP:rs35753710<li>D->N at 463: in dbSNP:rs36046440<li>A->V at 880: in dbSNP:rs34245489</ul>									<li>rs34245489</li><li>rs36046440</li><li>rs35276160</li><li>rs35753710</li>	2
Q6KB66	144501	<ul><li>V->I at 238: in dbSNP:rs35725856</ul>									rs35725856	2
Q6KC79	25836	<ul><li>S->N at 135: in dbSNP:rs3822471<li>S->A at 261: in dbSNP:rs16903425<li>N->S at 384: in dbSNP:rs2291703<li>N->S at 674: in dbSNP:rs3822471<li>I->V at 1206<li>Missing  at 1206: in CDLS1<li>A->G at 1246: in CDLS1, MIM: 122470<li>C->R at 1311: in CDLS1, MIM: 122470<li>L->P at 1312: in CDLS1, MIM: 122470<li>L->R at 1348: in CDLS1, MIM: 122470<li>E->K at 1647: in a breast cancer sample; somatic mutation, MIM: 122470<li>R->L at 1789: in CDLS1, MIM: 122470<li>D->V at 1803: in CDLS1, MIM: 122470<li>R->T at 1856: in CDLS1, MIM: 122470<li>R->C at 2298: in CDLS1, MIM: 122470<li>R->H at 2298: in CDLS1, MIM: 122470<li>G->R at 2312: in CDLS1, MIM: 122470<li>G->A at 2381: in CDLS1, MIM: 122470<li>A->T at 2390: in CDLS1, MIM: 122470<li>Y->C at 2430: in CDLS1, MIM: 122470<li>Y->H at 2440: in CDLS1, MIM: 122470</ul>								Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	<li>rs3822471</li><li>rs2291703</li><li>rs16903425</li>	2
Q6KF10	392255	<ul><li>K->E at 110: in dbSNP:rs2245091<li>A->E at 249: associated with the KFS phenotype<li>L->P at 289: associated with the KFS phenotype</ul>									rs2245091	2
Q6L8Q7	201626	<ul><li>R->W at 23: in dbSNP:rs2241988</ul>									rs2241988	2
Q6L9W6	283358	<ul><li>G->S at 59: in dbSNP:rs2075033<li>R->Q at 265: in dbSNP:rs11063529<li>K->R at 411: in dbSNP:rs7298766<li>R->Q at 768: in dbSNP:rs11063570<li>R->H at 992: in dbSNP:rs36078145</ul>									<li>rs36078145</li><li>rs7298766</li><li>rs11063529</li><li>rs2075033</li><li>rs11063570</li>	2
Q6MZM0	341208	<ul><li>N->D at 251: in dbSNP:rs1945783<li>R->C at 381: in dbSNP:rs12291622</ul>									<li>rs12291622</li><li>rs1945783</li>	2
Q6MZM9	401137	<ul><li>I->L at 44: in dbSNP:rs1612460<li>R->C at 91: in dbSNP:rs1613461</ul>									<li>rs1613461</li><li>rs1612460</li>	2
Q6MZN7	10866	<ul><li>W->R at 32: in dbSNP:rs17206855<li>W->C at 82: in dbSNP:rs2255221<li>G->E at 93: in dbSNP:rs2255223<li>V->G at 112: associated with low viral load in HIV patients; dbSNP:rs2395029<li>H->R at 123: in dbSNP:rs3130907</ul>									<li>rs3130907</li><li>rs2395029</li><li>rs2255221</li><li>rs17206855</li><li>rs2255223</li>	2
Q6MZQ0	79899	<ul><li>T->A at 41: in dbSNP:rs330261<li>P->S at 330: in dbSNP:rs11033639</ul>									<li>rs11033639</li><li>rs330261</li>	2
Q6MZT1		<ul><li>V->I at 255: in dbSNP:rs889248</ul>									rs889248	2
Q6MZW2	23105	<ul><li>R->H at 158: in dbSNP:rs17683306<li>M->T at 757: in dbSNP:rs3749817</ul>									<li>rs17683306</li><li>rs3749817</li>	2
Q6MZZ7	92291	<ul><li>H->Y at 249: in dbSNP:rs17010210<li>A->T at 280: in dbSNP:rs508405<li>I->T at 596: in dbSNP:rs2276568</ul>									<li>rs2276568</li><li>rs508405</li><li>rs17010210</li>	2
Q6N021		<ul><li>P->R at 29: in dbSNP:rs12498609<li>M->V at 218: in dbSNP:rs6843141<li>P->L at 363: in dbSNP:rs17253672<li>A->G at 912: in dbSNP:rs4145756</ul>									<li>rs17253672</li><li>rs6843141</li><li>rs12498609</li><li>rs4145756</li>	2
Q6N069	79612	<ul><li>E->G at 344: in dbSNP:rs17062054</ul>									rs17062054	2
Q6NS38	121642	<ul><li>R->H at 203: in dbSNP:rs33962311</ul>									rs33962311	2
Q6NSI1	100128802	<ul><li>T->K at 265: in dbSNP:rs1436436</ul>									rs1436436	2
Q6NSI4	55086	<ul><li>I->M at 593: in dbSNP:rs5962707</ul>									rs5962707	2
Q6NSJ0	57462	<ul><li>N->I at 4: in dbSNP:rs2297776<li>D->E at 53: in dbSNP:rs4879781<li>R->S at 199: in dbSNP:rs12377<li>F->Y at 385: in dbSNP:rs7852399</ul>									<li>rs2297776</li><li>rs7852399</li><li>rs12377</li><li>rs4879781</li>	2
Q6NSX1	83446	<ul><li>R->C at 126: in dbSNP:rs17076052<li>I->V at 206: in dbSNP:rs1054515</ul>									<li>rs17076052</li><li>rs1054515</li>	2
Q6NSZ9	221785	<ul><li>P->A at 325: in dbSNP:rs10239632</ul>									rs10239632	2
Q6NT16	116843	<ul><li>V->I at 204: in dbSNP:rs6926101</ul>									rs6926101	2
Q6NT32	221223	<ul><li>R->Q at 71: in dbSNP:rs2397965<li>E->K at 261: in dbSNP:rs11076126<li>H->Q at 344: in dbSNP:rs11860946<li>G->R at 499: in dbSNP:rs16955812<li>D->E at 537: in dbSNP:rs11860456</ul>									<li>rs16955812</li><li>rs11860456</li><li>rs11076126</li><li>rs11860946</li><li>rs2397965</li>	2
Q6NT55	126410	<ul><li>F->L at 59: in LI3, MIM: 604777<li>S->C at 178: in dbSNP:rs16980531, MIM: 604777<li>R->H at 243: in LI3, MIM: 604777<li>R->W at 372: in LI3, MIM: 604777<li>H->Y at 435: in LI3, MIM: 604777<li>H->D at 436: in LI3, MIM: 604777<li>K->Q at 505: in dbSNP:rs7256787, MIM: 604777</ul>								Ichthyosis lamellar type 3 (LI3) [MIM:604777]	<li>rs16980531</li><li>rs7256787</li>	2
Q6NT89	388610	<ul><li>W->R at 27: in dbSNP:rs6689941</ul>									rs6689941	2
Q6NTE8	51149	<ul><li>Q->R at 42: in dbSNP:rs1650893<li>Q->R at 97: in dbSNP:rs1650893<li>R->G at 154: in dbSNP:rs248248<li>Q->R at 231: in dbSNP:rs10277</ul>									<li>rs1650893</li><li>rs248248</li><li>rs10277</li>	2
Q6NTF7		<ul><li>R->L at 18: in dbSNP:rs139293<li>G->R at 105: in dbSNP:rs139297<li>K->E at 121: in dbSNP:rs139298<li>K->N at 121: in dbSNP:rs139299<li>E->D at 178: in dbSNP:rs139302</ul>									<li>rs139293</li><li>rs139302</li><li>rs139297</li><li>rs139298</li><li>rs139299</li>	2
Q6NTF9	57414	<ul><li>R->H at 85: in dbSNP:rs11547498</ul>									rs11547498	2
Q6NUI1	339184	<ul><li>G->D at 82: in dbSNP:rs7216787</ul>									rs7216787	2
Q6NUJ1	768239	<ul><li>A->S at 268: in dbSNP:rs3796905<li>V->M at 296: in dbSNP:rs6850206</ul>									<li>rs3796905</li><li>rs6850206</li>	2
Q6NUJ5	170394	<ul><li>R->C at 89: in dbSNP:rs11146363<li>R->G at 98: in dbSNP:rs10747057</ul>									<li>rs10747057</li><li>rs11146363</li>	2
Q6NUK4	221035	<ul><li>Q->R at 171: in dbSNP:rs10995569</ul>									rs10995569	2
Q6NUM9	54884	<ul><li>A->V at 533: in dbSNP:rs4832169</ul>									rs4832169	2
Q6NUN0	54988	<ul><li>Q->H at 159<li>P->R at 352: in dbSNP rsrs8062344<li>H->R at 360: in dbSNP rsrs12931877<li>T->M at 533: in dbSNP rsrs56308819</ul>									<li>rs8062344</li><li>rs56308819</li><li>rs12931877</li>	2
Q6NUN7	79864	<ul><li>H->R at 486: in dbSNP:rs33999612</ul>									rs33999612	2
Q6NUQ1	60561	<ul><li>S->C at 40: in dbSNP:rs11556986<li>F->S at 668: in dbSNP:rs35971380<li>P->L at 759: in dbSNP:rs34310648</ul>									<li>rs35971380</li><li>rs11556986</li><li>rs34310648</li>	2
Q6NUQ4	54867	<ul><li>V->M at 351: in dbSNP:rs1124649</ul>									rs1124649	2
Q6NUS8	133688	<ul><li>C->G at 121: in dbSNP:rs3756669</ul>									rs3756669	2
Q6NUT2	283417	<ul><li>M->V at 37: in dbSNP:rs10878075<li>A->V at 41: in dbSNP:rs10878074<li>S->A at 51: in dbSNP:rs10878073</ul>									<li>rs10878075</li><li>rs10878074</li><li>rs10878073</li>	2
Q6NUT3	126321	<ul><li>Y->H at 182: in dbSNP:rs2240751<li>I->V at 203: in dbSNP:rs34562175<li>R->H at 243: in dbSNP:rs10414812<li>G->S at 395: in dbSNP:rs34878396<li>R->C at 476: in dbSNP:rs7252640</ul>									<li>rs7252640</li><li>rs34562175</li><li>rs10414812</li><li>rs2240751</li><li>rs34878396</li>	2
Q6NV74	343990	<ul><li>S->C at 315: in dbSNP:rs3731660</ul>									rs3731660	2
Q6NV75	387509	<ul><li>R->H at 209: in dbSNP:rs12735670</ul>									rs12735670	2
Q6NVH7	126074	<ul><li>D->G at 171: in dbSNP:rs317926</ul>									rs317926	2
Q6NVU6	402682	<ul><li>V->L at 47: in dbSNP:rs12666989</ul>									rs12666989	2
Q6NVV3	152519	<ul><li>I->V at 324: in dbSNP:rs13116684</ul>									rs13116684	2
Q6NVV7	150383	<ul><li>V->A at 5: in dbSNP:rs9627281</ul>									rs9627281	2
Q6NVY1	26275	<ul><li>T->A at 46: in dbSNP:rs1058180<li>Y->C at 122: in HIBCH deficiency, MIM: 250620</ul>								HIBCH deficiency [MIM:250620]	rs1058180	2
Q6NW29	201965	<ul><li>I->L at 124: in dbSNP:rs10015804</ul>									rs10015804	2
Q6NW34	25871	<ul><li>E->K at 101: in dbSNP:rs2291465<li>P->S at 352: in dbSNP:rs2306858<li>F->I at 357: in dbSNP:rs2306857<li>T->A at 476: in dbSNP:rs3732813<li>S->P at 490: in dbSNP:rs7628368</ul>									<li>rs3732813</li><li>rs7628368</li><li>rs2306858</li><li>rs2306857</li><li>rs2291465</li>	2
Q6NX45	342132	<ul><li>P->L at 65: in dbSNP:rs16944267<li>S->N at 83: in dbSNP:rs2589957<li>V->I at 147: in dbSNP:rs11854320</ul>									<li>rs2589957</li><li>rs11854320</li><li>rs16944267</li>	2
Q6NX49	27300	<ul><li>H->D at 203: in dbSNP:rs6510130<li>Q->R at 700: in dbSNP:rs260462</ul>									<li>rs260462</li><li>rs6510130</li>	2
Q6NXG1	54845	<ul><li>Y->C at 196: in dbSNP:rs2303454</ul>									rs2303454	2
Q6NXP0	90288	<ul><li>E->G at 66: in dbSNP:rs3774787<li>R->G at 215: in dbSNP:rs6790768<li>P->S at 541: in dbSNP:rs12637267</ul>									<li>rs3774787</li><li>rs12637267</li><li>rs6790768</li>	2
Q6NXP2	346653	<ul><li>P->T at 112: in dbSNP:rs17169357<li>V->D at 114: in dbSNP:rs6971819<li>R->W at 136: in dbSNP:rs6467210<li>I->V at 251: in dbSNP:rs1109552</ul>									<li>rs17169357</li><li>rs1109552</li><li>rs6467210</li><li>rs6971819</li>	2
Q6NXR0	56269	<ul><li>D->N at 135: in dbSNP:rs11555891</ul>									rs11555891	2
Q6NXR4	80185	<ul><li>E->G at 63: in dbSNP:rs2304748<li>L->R at 425: in dbSNP:rs3736497</ul>									<li>rs2304748</li><li>rs3736497</li>	2
Q6NXT6	202018	<ul><li>E->K at 465: in dbSNP:rs35606284<li>N->S at 522: in dbSNP:rs16893137</ul>									<li>rs16893137</li><li>rs35606284</li>	2
Q6NY19	256949	<ul><li>D->Y at 288: in dbSNP:rs890850<li>R->H at 359: in dbSNP:rs890853<li>A->T at 485: in dbSNP:rs2913955</ul>									<li>rs890850</li><li>rs2913955</li><li>rs890853</li>	2
Q6NYC8	170954	<ul><li>R->G at 222: in dbSNP:rs9262144<li>G->R at 339: in dbSNP:rs9262143<li>P->L at 356: in dbSNP:rs2213944</ul>									<li>rs2213944</li><li>rs9262144</li><li>rs9262143</li>	2
Q6NZ36	199990	<ul><li>P->S at 126: in dbSNP:rs1058411</ul>									rs1058411	2
Q6NZ63		<ul><li>I->V at 7: in dbSNP:rs7787814<li>Q->R at 29: in dbSNP:rs16881810<li>R->M at 166: in dbSNP:rs16881812<li>I->T at 210: in dbSNP:rs16881817</ul>									<li>rs16881817</li><li>rs7787814</li><li>rs16881810</li><li>rs16881812</li>	2
Q6NZ67	80097	<ul><li>A->V at 118: in dbSNP:rs1043059<li>R->Q at 155: in dbSNP:rs1043152</ul>									<li>rs1043059</li><li>rs1043152</li>	2
Q6NZI2	284119	<ul><li>P->T at 14: in a breast cancer sample; somatic mutation<li>E->Q at 193: in dbSNP:rs35308568</ul>									rs35308568	2
Q6NZY4	55596	<ul><li>P->A at 672: in dbSNP:rs1063155</ul>									rs1063155	2
Q6P047	203076	<ul><li>F->L at 15: in dbSNP:rs11250058</ul>									rs11250058	2
Q6P050	283807	<ul><li>V->L at 109: in dbSNP:rs8035931</ul>									rs8035931	2
Q6P087	285367	<ul><li>D->H at 26: in dbSNP:rs17855991<li>A->P at 173: in dbSNP:rs34244989</ul>									<li>rs34244989</li><li>rs17855991</li>	2
Q6P093	344752	<ul><li>A->S at 186: in dbSNP:rs1972977<li>L->I at 343: in dbSNP:rs1052562</ul>									<li>rs1052562</li><li>rs1972977</li>	2
Q6P0A1	399888	<ul><li>A->T at 186: in dbSNP:rs4486587</ul>									rs4486587	2
Q6P0N0	55320	<ul><li>C->R at 164: in dbSNP:rs1269008<li>P->R at 347: in dbSNP:rs34168608<li>E->D at 583: in dbSNP:rs34101857<li>E->Q at 851: in dbSNP:rs34402741</ul>									<li>rs1269008</li><li>rs34101857</li><li>rs34402741</li><li>rs34168608</li>	2
Q6P0Q8	23139	<ul><li>L->F at 69: in dbSNP rsrs55914403<li>K->E at 275: in an ovarian mucinous carcinoma sample; somatic mutation<li>D->E at 388: in dbSNP:rs11211247<li>G->A at 655: in a breast mucinous carcinoma sample; somatic mutation<li>I->M at 659: in dbSNP:rs1707336<li>R->L at 991: in dbSNP rsrs56114653<li>K->R at 1197: in dbSNP:rs1052607<li>D->E at 1221: in dbSNP rsrs56060730<li>R->L at 1246: in dbSNP rsrs56309943<li>V->M at 1304: in dbSNP:rs33931638<li>A->T at 1463: in dbSNP:rs3737738<li>G->A at 1468: in dbSNP rsrs3737737<li>D->G at 1551: in dbSNP:rs1052610<li>T->I at 1608: in dbSNP:rs35474583<li>K->R at 1673: in dbSNP rsrs34070850<li>G->E at 1703</ul>									<li>rs1707336</li><li>rs11211247</li><li>rs1052610</li><li>rs56114653</li><li>rs56309943</li><li>rs55914403</li><li>rs35474583</li><li>rs56060730</li><li>rs33931638</li><li>rs34070850</li><li>rs3737737</li><li>rs1052607</li><li>rs3737738</li>	2
Q6P158	90957	<ul><li>S->F at 410: in dbSNP:rs11893062<li>S->G at 433: in dbSNP:rs35371077<li>N->S at 587: in dbSNP:rs7598922</ul>									<li>rs11893062</li><li>rs7598922</li><li>rs35371077</li>	2
Q6P179	64167	<ul><li>P->L at 214: in dbSNP:rs3733905<li>K->N at 392: in dbSNP:rs2549782<li>L->R at 411: in dbSNP:rs34261036<li>L->Q at 669: in dbSNP:rs17408150</ul>									<li>rs2549782</li><li>rs34261036</li><li>rs3733905</li><li>rs17408150</li>	2
Q6P1A2	10162	<ul><li>F->L at 63: in dbSNP:rs34196984<li>I->T at 217: in dbSNP:rs1984564</ul>									<li>rs1984564</li><li>rs34196984</li>	2
Q6P1J6	151056	<ul><li>V->L at 212: in dbSNP:rs6753929<li>M->V at 708: in dbSNP:rs11681826<li>G->R at 821: in dbSNP:rs10201128<li>D->H at 879: in dbSNP:rs7601771<li>A->V at 1318: in dbSNP:rs2199619</ul>									<li>rs7601771</li><li>rs2199619</li><li>rs10201128</li><li>rs11681826</li><li>rs6753929</li>	2
Q6P1J9	79577	<ul><li>L->P at 64: in FIHP; does not affect interaction with the Pfa1 complex, MIM: 145000<li>L->P at 384: in dbSNP:rs35590728, MIM: 145000</ul>								Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	rs35590728	2
Q6P1K2	11243	<ul><li>Q->R at 75: in dbSNP:rs1052053<li>M->I at 137: in dbSNP:rs1052067</ul>									<li>rs1052067</li><li>rs1052053</li>	2
Q6P1M0	10999	<ul><li>G->S at 209: correlates with lower body mass index, triglyceride concentrations, systolic blood pressure, insulin concentrations and homeostasis model assessment index; dbSNP:rs2240953</ul>	homeostasis	GO:0042592					<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		rs2240953	2
Q6P1M3	3993	<ul><li>R->H at 45: in dbSNP:rs1671036<li>F->L at 479: in dbSNP:rs1671021<li>P->L at 488: in dbSNP:rs35991442<li>L->P at 490: in dbSNP:rs1671021<li>R->H at 748: in dbSNP:rs35474687<li>P->S at 759: in dbSNP:rs1661715<li>A->V at 774: in dbSNP:rs1661715<li>P->L at 790: in dbSNP:rs1661714<li>G->S at 1001: in dbSNP:rs35886912</ul>									<li>rs35991442</li><li>rs1661715</li><li>rs35886912</li><li>rs1661714</li><li>rs1671021</li><li>rs1671036</li><li>rs35474687</li>	2
Q6P1N0	54862	<ul><li>T->P at 339: in dbSNP:rs11883041<li>T->S at 635: in dbSNP:rs2290663<li>T->M at 801: in dbSNP:rs2305777</ul>									<li>rs2290663</li><li>rs2305777</li><li>rs11883041</li>	2
Q6P1Q0	25875	<ul><li>V->I at 84: in dbSNP:rs12379</ul>									rs12379	2
Q6P1Q9	55798	<ul><li>C->R at 124: in dbSNP:rs2896399<li>N->H at 129: in dbSNP:rs2023329<li>E->K at 169: in dbSNP:rs1065267<li>I->V at 266: in dbSNP:rs2562741</ul>									<li>rs2023329</li><li>rs1065267</li><li>rs2896399</li><li>rs2562741</li>	2
Q6P1S2		<ul><li>A->T at 47: in dbSNP:rs9853408<li>N->S at 160: in dbSNP:rs358733</ul>									<li>rs358733</li><li>rs9853408</li>	2
Q6P1W5	84970	<ul><li>Q->E at 45: in dbSNP:rs1382602<li>D->E at 112: in dbSNP:rs1414474<li>Y->H at 248: in dbSNP:rs17556981</ul>									<li>rs17556981</li><li>rs1414474</li><li>rs1382602</li>	2
Q6P1X5	6873	<ul><li>P->L at 8: in dbSNP:rs17818842<li>S->T at 447: in dbSNP:rs9297605<li>S->N at 1122: in dbSNP:rs956749<li>T->A at 1139: in dbSNP:rs956748</ul>									<li>rs956749</li><li>rs17818842</li><li>rs956748</li><li>rs9297605</li>	2
Q6P280	57711	<ul><li>V->L at 98: in dbSNP:rs2912444</ul>									rs2912444	2
Q6P2C0	56964	<ul><li>L->H at 66: in dbSNP:rs4287542<li>S->T at 254: in dbSNP:rs7163367<li>T->M at 352: in dbSNP:rs7178234</ul>									<li>rs7178234</li><li>rs4287542</li><li>rs7163367</li>	2
Q6P2D8	143570	<ul><li>T->R at 473: in dbSNP:rs4944960<li>K->E at 480: in dbSNP:rs12291445</ul>									<li>rs12291445</li><li>rs4944960</li>	2
Q6P2H3	64793	<ul><li>R->H at 48: in dbSNP:rs35831900<li>S->N at 213: in dbSNP:rs3795686<li>A->T at 542: in dbSNP:rs7550997<li>Q->H at 668: in dbSNP:rs36013141</ul>									<li>rs36013141</li><li>rs35831900</li><li>rs3795686</li><li>rs7550997</li>	2
Q6P2M8		<ul><li>Q->H at 262</ul>										2
Q6P2P2	90826	<ul><li>S->G at 483: in dbSNP:rs17023638<li>C->Y at 747: in dbSNP:rs11557361</ul>									<li>rs11557361</li><li>rs17023638</li>	2
Q6P2Q9	10594	<ul><li>K->E at 68: in dbSNP:rs1043391<li>R->H at 227: in dbSNP:rs11559304<li>P->L at 874: in dbSNP:rs1043396<li>N->H at 1293: in dbSNP:rs1043399<li>P->T at 2301: in RP13, MIM: 600059<li>F->L at 2304: in RP13, MIM: 600059<li>H->P at 2309: in RP13, MIM: 600059<li>H->R at 2309: in RP13, MIM: 600059<li>R->G at 2310: in RP13, MIM: 600059<li>R->K at 2310: in RP13, MIM: 600059<li>F->L at 2314: in RP13, MIM: 600059<li>Y->N at 2334: in RP13, MIM: 600059</ul>							P05750	Retinitis pigmentosa type 13 (RP13) [MIM:600059]	<li>rs1043399</li><li>rs1043396</li><li>rs11559304</li><li>rs1043391</li>	2
Q6P387	123775	<ul><li>T->S at 77: in dbSNP:rs17855893<li>I->T at 288: in dbSNP:rs7198494<li>Y->H at 335: in dbSNP:rs10459872<li>K->E at 357: in dbSNP:rs9930623<li>P->S at 388: in dbSNP:rs12929250</ul>									<li>rs17855893</li><li>rs9930623</li><li>rs7198494</li><li>rs10459872</li><li>rs12929250</li>	2
Q6P3R8	341676	<ul><li>K->Q at 255: in dbSNP:rs34756139<li>R->H at 290<li>C->R at 531</ul>									rs34756139	2
Q6P3S1	163486	<ul><li>V->M at 216: in dbSNP:rs7546381</ul>									rs7546381	2
Q6P3S6	54455	<ul><li>P->A at 471: in dbSNP:rs12069239</ul>									rs12069239	2
Q6P3W2	120526	<ul><li>N->D at 22: in a breast cancer sample; somatic mutation</ul>										2
Q6P3W7	55681	<ul><li>P->L at 357: in dbSNP:rs33968174<li>T->S at 720<li>Q->H at 863: in a lung adenocarcinoma sample; somatic mutation</ul>									rs33968174	2
Q6P3X3	55622	<ul><li>Y->C at 476: in dbSNP:rs2273660<li>R->H at 525: in dbSNP:rs2273664<li>R->H at 586: in dbSNP:rs17012268</ul>									<li>rs2273660</li><li>rs17012268</li><li>rs2273664</li>	2
Q6P461	142827	<ul><li>K->R at 227: in dbSNP:rs7090248</ul>									rs7090248	2
Q6P474		<ul><li>M->V at 209: in dbSNP:rs3169319<li>L->F at 429: in dbSNP:rs11648231<li>L->R at 429: in dbSNP:rs929843</ul>									<li>rs3169319</li><li>rs929843</li><li>rs11648231</li>	2
Q6P4A8	79887	<ul><li>I->V at 264: in dbSNP:rs7957558<li>V->A at 376: in dbSNP:rs2287541<li>A->P at 533: in dbSNP:rs1600</ul>									<li>rs1600</li><li>rs2287541</li><li>rs7957558</li>	2
Q6P4F1	84750	<ul><li>L->F at 59: in dbSNP:rs16880994<li>Y->H at 268: in dbSNP:rs16880853<li>L->V at 368: in dbSNP:rs17855838<li>R->P at 371: in dbSNP:rs17855839</ul>									<li>rs16880853</li><li>rs16880994</li><li>rs17855839</li><li>rs17855838</li>	2
Q6P4F7	9824	<ul><li>E->K at 605: in a breast cancer sample; somatic mutation</ul>										2
Q6P4H8	134145	<ul><li>T->M at 75: in dbSNP:rs2438652<li>A->V at 105: in dbSNP:rs16884350<li>V->A at 114: in dbSNP:rs17360625<li>L->M at 229: in dbSNP:rs15757</ul>									<li>rs2438652</li><li>rs16884350</li><li>rs17360625</li><li>rs15757</li>	2
Q6P4I2	84942	<ul><li>R->H at 249: in dbSNP:rs11073619</ul>									rs11073619	2
Q6P4Q7	26504	<ul><li>G->R at 126: in dbSNP:rs17855817<li>V->L at 134: in a breast cancer sample; somatic mutation</ul>									rs17855817	2
Q6P531	124975	<ul><li>R->W at 40: in dbSNP:rs7216284<li>A->V at 58: in dbSNP:rs11657054</ul>									<li>rs11657054</li><li>rs7216284</li>	2
Q6P587	81889	<ul><li>D->N at 110: in dbSNP:rs3743853</ul>									rs3743853	2
Q6P5S2	352999	<ul><li>C->G at 308: in dbSNP:rs9491833</ul>									rs9491833	2
Q6P5W5	55630	<ul><li>T->A at 58: in dbSNP rsrs2280838<li>P->L at 84: in AEZ; could be a polymorphism, MIM: 201100<li>R->C at 95: in AEZ, MIM: 201100<li>N->K at 106: in AEZ, MIM: 201100<li>T->A at 114: in dbSNP rsrs17855765, MIM: 201100<li>P->L at 200: in AEZ, MIM: 201100<li>R->W at 251: in AEZ; could be a polymorphism: in dbSNP rsrs2977838, MIM: 201100<li>Q->H at 303: in AEZ, MIM: 201100<li>C->Y at 309: in AEZ; could be a polymorphism, MIM: 201100<li>G->D at 330: in AEZ, MIM: 201100<li>A->T at 357: in dbSNP rsrs2272662, MIM: 201100<li>L->P at 372: in AEZ, MIM: 201100<li>G->R at 374: in AEZ, MIM: 201100<li>L->P at 410: in AEZ; could be a polymorphism, MIM: 201100<li>G->R at 526: in AEZ, MIM: 201100<li>G->R at 630: in AEZ, MIM: 201100</ul>								Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	<li>rs2272662</li><li>rs17855765</li><li>rs2977838</li><li>rs2280838</li>	2
Q6P5Z2	29941	<ul><li>A->E at 180: in dbSNP rsrs56251280<li>V->L at 404: in dbSNP:rs12932</ul>									<li>rs56251280</li><li>rs12932</li>	2
Q6P656	161502	<ul><li>P->S at 284: in dbSNP:rs2279997</ul>									rs2279997	2
Q6P6B1	203111	<ul><li>R->H at 59: in dbSNP:rs7833473<li>Q->P at 244: in dbSNP:rs35368005<li>H->R at 287: in dbSNP:rs11994440</ul>									<li>rs11994440</li><li>rs7833473</li><li>rs35368005</li>	2
Q6P6B7	54522	<ul><li>A->G at 128: in dbSNP:rs2296136<li>Q->R at 353: in dbSNP:rs1052420</ul>									<li>rs2296136</li><li>rs1052420</li>	2
Q6P7N7	388730	<ul><li>R->Q at 77: in dbSNP:rs4951168<li>F->S at 100: in dbSNP:rs16855059</ul>									<li>rs4951168</li><li>rs16855059</li>	2
Q6P995	165215	<ul><li>V->I at 304: in dbSNP:rs17855085</ul>									rs17855085	2
Q6P9A1	348327	<ul><li>T->A at 64: in dbSNP:rs9677004<li>H->Q at 110: in dbSNP:rs2360543<li>S->P at 124: in dbSNP:rs17855076<li>T->M at 169: in dbSNP:rs11883343<li>G->S at 262: in dbSNP:rs9676259</ul>									<li>rs9676259</li><li>rs11883343</li><li>rs17855076</li><li>rs9677004</li><li>rs2360543</li>	2
Q6P9B6		<ul><li>R->L at 10: in dbSNP:rs8046813<li>H->Q at 97: in dbSNP:rs8055536<li>D->E at 172: in dbSNP:rs436278<li>V->I at 220: in dbSNP:rs431818<li>E->D at 233: in dbSNP:rs34244563<li>R->C at 267: in dbSNP:rs422145<li>S->L at 443: in dbSNP:rs34628943</ul>									<li>rs431818</li><li>rs8055536</li><li>rs34628943</li><li>rs8046813</li><li>rs422145</li><li>rs34244563</li><li>rs436278</li>	2
Q6P9F0	84660	<ul><li>Q->E at 31: in a colorectal cancer sample; somatic mutation<li>T->K at 394: in dbSNP:rs17855031</ul>									rs17855031	2
Q6P9F7	23507	<ul><li>D->N at 288: in dbSNP:rs17131746<li>Q->K at 419: in dbSNP:rs17855025<li>R->H at 469: in dbSNP:rs3795832<li>N->S at 689: in dbSNP:rs12747447</ul>									<li>rs17855025</li><li>rs12747447</li><li>rs17131746</li><li>rs3795832</li>	2
Q6P9G0	124637	<ul><li>F->L at 20: in dbSNP:rs12453250</ul>									rs12453250	2
Q6P9G4	201799	<ul><li>S->F at 93: in dbSNP:rs17855714</ul>									rs17855714	2
Q6P9H5	474344	<ul><li>V->I at 65: in dbSNP:rs17173519<li>G->D at 170: in dbSNP:rs11974345<li>G->S at 171: in dbSNP:rs13234724<li>Q->R at 237: in dbSNP:rs11977216</ul>									<li>rs13234724</li><li>rs11974345</li><li>rs11977216</li><li>rs17173519</li>	2
Q6PB30	158511	<ul><li>Y->F at 28: in dbSNP:rs1894359<li>K->R at 62: in dbSNP:rs2515848</ul>									<li>rs1894359</li><li>rs2515848</li>	2
Q6PCD5	55159	<ul><li>T->N at 90: in dbSNP:rs8058922<li>R->K at 392: in dbSNP:rs17854997<li>I->V at 564: in dbSNP:rs7193541<li>I->T at 770: in dbSNP:rs17854996</ul>									<li>rs8058922</li><li>rs7193541</li><li>rs17854996</li><li>rs17854997</li>	2
Q6PCE3	283209	<ul><li>L->P at 14: in dbSNP:rs12049823<li>I->V at 531: in dbSNP:rs592644</ul>									<li>rs592644</li><li>rs12049823</li>	2
Q6PD74	79719	<ul><li>I->L at 132: in dbSNP:rs7173826</ul>									rs7173826	2
Q6PEW0	221191	<ul><li>S->G at 182: in dbSNP:rs3815803<li>V->I at 240: in dbSNP:rs1052276<li>T->A at 295: in dbSNP:rs2241414</ul>									<li>rs3815803</li><li>rs1052276</li><li>rs2241414</li>	2
Q6PEW1	170261	<ul><li>R->C at 7: in dbSNP:rs35356061<li>L->I at 179: in dbSNP:rs17854957<li>R->G at 214: in dbSNP:rs17853670</ul>									<li>rs35356061</li><li>rs17853670</li><li>rs17854957</li>	2
Q6PEX3	388818	<ul><li>S->Y at 26: in dbSNP:rs3804007<li>P->T at 188: in dbSNP:rs12483584</ul>									<li>rs12483584</li><li>rs3804007</li>	2
Q6PEX7	374973	<ul><li>E->D at 158: in dbSNP:rs614486<li>A->V at 253: in dbSNP:rs1025806</ul>									<li>rs1025806</li><li>rs614486</li>	2
Q6PEY0	375519	<ul><li>T->I at 20: in dbSNP:rs4707358<li>F->L at 206: in dbSNP:rs6934603</ul>									<li>rs6934603</li><li>rs4707358</li>	2
Q6PEY1	92162	<ul><li>L->F at 44: in dbSNP:rs2270518</ul>									rs2270518	2
Q6PEY2	112714	<ul><li>S->N at 101: in dbSNP:rs3863907<li>A->V at 126: in dbSNP:rs13000721<li>S->G at 162: in dbSNP:rs2261398<li>W->R at 402: in dbSNP:rs1052422<li>A->E at 449: in dbSNP:rs10208844</ul>									<li>rs3863907</li><li>rs13000721</li><li>rs1052422</li><li>rs2261398</li><li>rs10208844</li>	2
Q6PEZ8	79883	<ul><li>R->W at 44: in dbSNP:rs3745467</ul>									rs3745467	2
Q6PF04	79898	<ul><li>D->N at 84: in dbSNP:rs17854933<li>K->E at 93: in dbSNP:rs8106409<li>I->R at 135: in dbSNP:rs16983243</ul>									<li>rs8106409</li><li>rs17854933</li><li>rs16983243</li>	2
Q6PF05	153657	<ul><li>H->R at 22: in dbSNP:rs6451173<li>K->E at 67: in dbSNP:rs6866035<li>T->M at 150: in dbSNP:rs34566695<li>N->D at 153: in dbSNP:rs35769440<li>K->N at 247: in dbSNP:rs34702907<li>R->K at 325: in dbSNP:rs35665026</ul>									<li>rs34702907</li><li>rs6451173</li><li>rs35665026</li><li>rs34566695</li><li>rs6866035</li><li>rs35769440</li>	2
Q6PF06	158234	<ul><li>V->G at 234: in dbSNP:rs36023446<li>V->A at 242: in dbSNP:rs12337034</ul>									<li>rs12337034</li><li>rs36023446</li>	2
Q6PGN9	84722	<ul><li>R->Q at 312: in dbSNP:rs34863121</ul>									rs34863121	2
Q6PGP7	9652	<ul><li>L->V at 437: in dbSNP:rs17084873<li>R->S at 1296: in dbSNP:rs2303650</ul>									<li>rs17084873</li><li>rs2303650</li>	2
Q6PGQ1	51233	<ul><li>I->T at 4: in dbSNP:rs3827318</ul>									rs3827318	2
Q6PGQ7	79866	<ul><li>S->L at 210: in dbSNP:rs9543107<li>S->F at 308: in dbSNP:rs1146858</ul>									<li>rs9543107</li><li>rs1146858</li>	2
Q6PHW0	389434	<ul><li>R->W at 101: in CHDH4; strongly reduces activity; does not respond to the increase of flavin mononucleotide concentration, MIM: 274800<li>FI->L at 105-106: in CHDH4; strongly reduces activity; does not respond to the increase of flavin mononucleotide concentration, MIM: 274800<li>I->T at 116: in CHDH4; strongly reduces activity; marginally respond to the increase of flavin mononucleotide concentration; reduces protein stability, MIM: 274800<li>L->P at 260: in dbSNP:rs17854906, MIM: 274800<li>E->K at 271: in dbSNP:rs36063028, MIM: 274800</ul>								Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	<li>rs17854906</li><li>rs36063028</li>	2
Q6PI26	55164	<ul><li>S->I at 140: in dbSNP:rs17855677<li>S->N at 489: in dbSNP:rs35178407</ul>									<li>rs35178407</li><li>rs17855677</li>	2
Q6PI47	130535	<ul><li>A->V at 333: in dbSNP:rs13018579<li>G->C at 336: in dbSNP:rs10203154<li>C->S at 390: in dbSNP:rs3795969<li>A->V at 413: in dbSNP:rs10203042</ul>									<li>rs10203042</li><li>rs13018579</li><li>rs3795969</li><li>rs10203154</li>	2
Q6PI48	55157	<ul><li>L->V at 10: in dbSNP:rs4427454<li>S->G at 45: in LBSL, MIM: 611105<li>C->F at 152: in LBSL, MIM: 611105<li>R->H at 179: in LBSL, MIM: 611105<li>Q->K at 184: in LBSL, MIM: 611105<li>K->R at 196: in dbSNP:rs35515638, MIM: 611105<li>Q->K at 248: in LBSL, MIM: 611105<li>R->Q at 263: in LBSL, MIM: 611105<li>D->V at 560: in LBSL, MIM: 611105<li>L->F at 613: in LBSL, MIM: 611105<li>L->Q at 626: in LBSL, MIM: 611105<li>L->V at 626: in LBSL, MIM: 611105<li>Y->C at 629: in LBSL, MIM: 611105</ul>								Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	<li>rs35515638</li><li>rs4427454</li>	2
Q6PI73	79168	<ul><li>L->W at 69: in dbSNP:rs620207<li>G->R at 149: in dbSNP:rs1052966<li>P->R at 288: in dbSNP:rs1052975<li>Y->H at 400: in dbSNP:rs8104206</ul>									<li>rs8104206</li><li>rs1052975</li><li>rs1052966</li><li>rs620207</li>	2
Q6PI77	80823	<ul><li>S->G at 132: in dbSNP:rs2179675<li>C->R at 318: in dbSNP:rs4514179</ul>									<li>rs2179675</li><li>rs4514179</li>	2
Q6PID6	23548	<ul><li>L->M at 69: in dbSNP:rs837105</ul>									rs837105	2
Q6PID8	23008	<ul><li>S->L at 2: in dbSNP:rs3734928<li>D->G at 183: in dbSNP:rs17854337<li>I->V at 274: in dbSNP:rs17854336<li>E->G at 295: in dbSNP:rs17857292<li>L->I at 437: in dbSNP:rs10241894</ul>									<li>rs10241894</li><li>rs17857292</li><li>rs17854337</li><li>rs17854336</li><li>rs3734928</li>	2
Q6PIF6	4648	<ul><li>G->S at 21: in dbSNP:rs2404991<li>R->Q at 1264: in dbSNP:rs2245408<li>E->D at 1647: in dbSNP:rs13025959<li>Q->R at 2105: in dbSNP:rs11686946</ul>									<li>rs2404991</li><li>rs2245408</li><li>rs13025959</li><li>rs11686946</li>	2
Q6PIJ6	81545	<ul><li>S->P at 592: in dbSNP:rs10043775<li>A->T at 894: in dbSNP:rs11949133</ul>									<li>rs11949133</li><li>rs10043775</li>	2
Q6PIU1	27012	<ul><li>D->G at 22: in dbSNP:rs17852611</ul>									rs17852611	2
Q6PIU2	57552	<ul><li>V->F at 19: in dbSNP:rs35316420<li>K->Q at 71: in dbSNP:rs2302815<li>L->M at 343: in dbSNP:rs17857335</ul>									<li>rs17857335</li><li>rs2302815</li><li>rs35316420</li>	2
Q6PIW4	63979	<ul><li>V->M at 137: in dbSNP:rs10235371<li>H->Y at 216: in dbSNP:rs35929700</ul>									<li>rs35929700</li><li>rs10235371</li>	2
Q6PJ21	90864	<ul><li>S->L at 171: in dbSNP:rs35816944</ul>									rs35816944	2
Q6PJF5	79651	<ul><li>P->L at 208: in dbSNP:rs3744045<li>A->T at 249: in dbSNP:rs34814954<li>D->Y at 528: in dbSNP:rs11553545</ul>									<li>rs34814954</li><li>rs11553545</li><li>rs3744045</li>	2
Q6PJG2	91748	<ul><li>A->V at 86: in dbSNP:rs35302179<li>P->L at 554: in dbSNP:rs17782124</ul>									<li>rs17782124</li><li>rs35302179</li>	2
Q6PJG6	221927	<ul><li>R->G at 20: in dbSNP:rs17856488</ul>									rs17856488	2
Q6PJG9	78999	<ul><li>V->A at 340: in dbSNP:rs3741194</ul>									rs3741194	2
Q6PJI9	79726	<ul><li>P->T at 201: in dbSNP:rs11557260</ul>									rs11557260	2
Q6PJP8	9937	<ul><li>K->E at 58: in dbSNP:rs17235066<li>E->D at 59: in dbSNP:rs17228665<li>G->D at 71: in dbSNP:rs17228672<li>P->L at 287: in dbSNP:rs17235094<li>H->D at 317: in dbSNP:rs3750898<li>G->W at 582: in dbSNP:rs17855759<li>I->F at 859: in dbSNP:rs11196530</ul>									<li>rs11196530</li><li>rs17855759</li><li>rs17235066</li><li>rs17235094</li><li>rs17228665</li><li>rs17228672</li><li>rs3750898</li>	2
Q6PJQ5	139628	<ul><li>V->A at 286: in dbSNP:rs2375465</ul>									rs2375465	2
Q6PJW8	163882	<ul><li>S->N at 28: in dbSNP:rs35286882<li>S->L at 87: in dbSNP:rs6702823<li>R->C at 399: in dbSNP:rs12075111</ul>									<li>rs35286882</li><li>rs12075111</li><li>rs6702823</li>	2
Q6PK04	339230	<ul><li>H->Q at 127: in dbSNP:rs7226091<li>R->W at 177: in dbSNP:rs11150805<li>R->Q at 229: in dbSNP:rs11546630</ul>									<li>rs11546630</li><li>rs7226091</li><li>rs11150805</li>	2
Q6PK18	79701	<ul><li>D->E at 67: in dbSNP:rs8072110<li>P->R at 272: in dbSNP:rs17852152</ul>									<li>rs17852152</li><li>rs8072110</li>	2
Q6PKC3	51061	<ul><li>V->L at 783: in dbSNP:rs3190321</ul>									rs3190321	2
Q6PKH6		<ul><li>L->M at 17: in dbSNP:rs2273947</ul>									rs2273947	2
Q6PL18	29028	<ul><li>I->T at 1280: in dbSNP:rs3758122</ul>									rs3758122	2
Q6PL24	283578	<ul><li>Q->K at 5: in dbSNP:rs3742737</ul>									rs3742737	2
Q6PL45	283870	<ul><li>I->V at 46: in dbSNP:rs26857</ul>									rs26857	2
Q6PML9	10463	<ul><li>M->V at 50: in dbSNP:rs1047626<li>T->A at 97: in dbSNP:rs2581423<li>L->S at 353: in dbSNP:rs1801962</ul>									<li>rs1801962</li><li>rs2581423</li><li>rs1047626</li>	2
Q6PRD1	440435	<ul><li>Q->E at 1176: in dbSNP:rs4399578<li>C->R at 1381: in dbSNP:rs4398144<li>Q->E at 1869: in dbSNP:rs4399578</ul>									<li>rs4398144</li><li>rs4399578</li>	2
Q6PRD7	752014	<ul><li>K->E at 55: in dbSNP:rs13331643</ul>									rs13331643	2
Q6PXP3	155184	<ul><li>V->I at 135: in dbSNP:rs34545462</ul>									rs34545462	2
Q6Q4G3	206338	<ul><li>V->F at 640: in dbSNP:rs17138632<li>F->L at 689: in dbSNP:rs10078759<li>V->I at 936: in dbSNP:rs17138681</ul>									<li>rs17138632</li><li>rs10078759</li><li>rs17138681</li>	2
Q6Q759	200162	<ul><li>R->Q at 143: in dbSNP:rs12133381<li>E->V at 158: in dbSNP:rs17185492<li>T->P at 1253: in dbSNP:rs34366834<li>P->L at 1348: in dbSNP:rs10923472<li>D->E at 1707: in a colorectal cancer sample; somatic mutation</ul>									<li>rs10923472</li><li>rs34366834</li><li>rs17185492</li><li>rs12133381</li>	2
Q6Q788	116519	<ul><li>S->W at 19: in allele APOA5*3; associated with high plasma triglyceride levels; dbSNP:rs3135506<li>D->E at 37: in dbSNP:rs34282181<li>V->M at 153: in dbSNP:rs3135507<li>G->C at 185: associated with high plasma triglyceride levels; dbSNP:rs2075291</ul>							Q6Q788		<li>rs2075291</li><li>rs3135507</li><li>rs3135506</li><li>rs34282181</li>	2
Q6Q8B3	344807	<ul><li>R->L at 113: in dbSNP:rs4682119</ul>									rs4682119	2
Q6QHK4	344018	<ul><li>A->E at 4<li>Missing  at 140: in POF6; one individual with premature ovarian failure<li>T->S at 141: in dbSNP:rs7566476</ul>									rs7566476	2
Q6QNK2	283383	<ul><li>V->M at 508: in dbSNP:rs11833801<li>S->L at 523: in dbSNP:rs11061318</ul>									<li>rs11061318</li><li>rs11833801</li>	2
Q6QNY1	282991	<ul><li>S->R at 13: in dbSNP:rs33965491</ul>									rs33965491	2
Q6R2W3	114821	<ul><li>M->V at 155: in dbSNP:rs409029</ul>									rs409029	2
Q6R327	253260	<ul><li>S->F at 837: in dbSNP:rs2043112</ul>									rs2043112	2
Q6RI45	254065	<ul><li>R->K at 1288: in dbSNP:rs3122407<li>K->E at 1596: in MRX93; may be a rare polymorphism, MIM: 300659</ul>								Mental retardation X-linked type 93 (MRX93) [MIM:300659]	rs3122407	2
Q6RUI8	84798	<ul><li>V->I at 7: in dbSNP:rs7251816<li>R->C at 84: in dbSNP:rs4802741<li>G->E at 104: in dbSNP:rs4801853</ul>									<li>rs7251816</li><li>rs4802741</li><li>rs4801853</li>	2
Q6RW13	57085	<ul><li>A->V at 143: in dbSNP:rs17875960</ul>									rs17875960	2
Q6S5H4	339010	<ul><li>H->D at 30: in dbSNP:rs4503752<li>M->V at 43: in dbSNP:rs2605913<li>C->W at 64: in dbSNP:rs2458860<li>C->R at 68: in dbSNP:rs6599743<li>T->K at 77: in dbSNP:rs4429251<li>N->D at 88: in dbSNP:rs2458862<li>A->T at 242: in dbSNP:rs4366679<li>Q->E at 286: in dbSNP:rs2445603<li>K->E at 511: in dbSNP:rs1949282<li>M->K at 535: in dbSNP:rs1828869<li>A->V at 568: in dbSNP:rs1828868</ul>									<li>rs1828869</li><li>rs2445603</li><li>rs6599743</li><li>rs1828868</li><li>rs4429251</li><li>rs2458860</li><li>rs2605913</li><li>rs4503752</li><li>rs1949282</li><li>rs2458862</li><li>rs4366679</li>	2
Q6S5L8	399694	<ul><li>N->D at 52: in dbSNP:rs17856991<li>K->E at 244: in dbSNP:rs17856990<li>Q->H at 400: in dbSNP:rs16961728<li>D->G at 447: in dbSNP:rs17856992</ul>									<li>rs17856992</li><li>rs17856990</li><li>rs17856991</li><li>rs16961728</li>	2
Q6S9Z5	133923	<ul><li>R->H at 173: in dbSNP:rs2560306</ul>									rs2560306	2
Q6SA08	283629	<ul><li>H->Y at 33: in dbSNP:rs36036137<li>Y->C at 89: in dbSNP:rs34083933<li>V->M at 145: in dbSNP rsrs35468205<li>Q->R at 196: in dbSNP:rs1270764<li>T->M at 327: in dbSNP rsrs35244223</ul>									<li>rs1270764</li><li>rs35468205</li><li>rs34083933</li><li>rs36036137</li><li>rs35244223</li>	2
Q6SJ93	374393	<ul><li>G->D at 218: in dbSNP:rs1060428<li>P->A at 731: in dbSNP:rs17153376</ul>									<li>rs17153376</li><li>rs1060428</li>	2
Q6SJ96	387332	<ul><li>R->P at 31: in dbSNP:rs8019270</ul>									rs8019270	2
Q6STE5	6604	<ul><li>P->S at 170: in dbSNP:rs1050101</ul>									rs1050101	2
Q6T423	387601	<ul><li>S->G at 250: in dbSNP:rs11231409<li>R->T at 300: in dbSNP:rs11231397</ul>									<li>rs11231397</li><li>rs11231409</li>	2
Q6T4P5	79948	<ul><li>I->T at 193: in dbSNP:rs1540615<li>A->V at 690: in dbSNP:rs3746136</ul>									<li>rs3746136</li><li>rs1540615</li>	2
Q6T4R5	4810	<ul><li>A->T at 844: in a breast cancer sample; somatic mutation<li>F->L at 1319: in dbSNP:rs3747295<li>S->T at 1510: in dbSNP:rs2071848<li>S->T at 1535: in dbSNP:rs2071848</ul>									<li>rs2071848</li><li>rs3747295</li>	2
Q6TDU7	55259	<ul><li>R->S at 33: in dbSNP:rs10842496</ul>									rs10842496	2
Q6TFL3	203238	<ul><li>I->N at 17: in dbSNP:rs443563<li>S->T at 121: in dbSNP:rs4741510<li>N->I at 495: in dbSNP:rs10962127<li>C->Y at 821: in dbSNP:rs34816651<li>K->R at 1069: in dbSNP:rs1539172</ul>									<li>rs34816651</li><li>rs443563</li><li>rs1539172</li><li>rs10962127</li><li>rs4741510</li>	2
Q6U949	51214	<ul><li>S->I at 106: in dbSNP:rs17883406<li>P->T at 112: in dbSNP:rs17883142<li>F->V at 125: in dbSNP:rs1003483<li>T->A at 150: in dbSNP:rs1003484</ul>									<li>rs1003483</li><li>rs1003484</li><li>rs17883406</li><li>rs17883142</li>	2
Q6UB28	254042	<ul><li>G->V at 14: in dbSNP:rs10497377</ul>									rs10497377	2
Q6UB35	25902	<ul><li>L->R at 444: in a colorectal cancer sample; somatic mutation</ul>										2
Q6UB98	23253	<ul><li>S->T at 171<li>P->A at 277: in dbSNP:rs2298548<li>E->D at 390: in dbSNP:rs35101529<li>T->I at 507: in dbSNP:rs17498752<li>T->S at 531: in dbSNP:rs7243088<li>S->N at 818: in dbSNP:rs2298546<li>K->R at 906: in dbSNP:rs4798791<li>L->S at 998: in dbSNP:rs34996750<li>S->P at 1758: in dbSNP:rs3744822</ul>									<li>rs3744822</li><li>rs17498752</li><li>rs7243088</li><li>rs2298546</li><li>rs34996750</li><li>rs4798791</li><li>rs35101529</li><li>rs2298548</li>	2
Q6UDR6	391253	<ul><li>A->E at 30: in dbSNP:rs16990631<li>G->S at 73: in dbSNP:rs6017667</ul>									<li>rs16990631</li><li>rs6017667</li>	2
Q6UE05	135886	<ul><li>I->N at 14: in dbSNP:rs11770052<li>A->D at 70: in dbSNP:rs17852792<li>W->R at 78: in dbSNP:rs13227841</ul>									<li>rs17852792</li><li>rs11770052</li><li>rs13227841</li>	2
Q6UQ28	349633	<ul><li>S->P at 142: in dbSNP:rs2564872</ul>									rs2564872	2
Q6UUV7	64784	<ul><li>S->N at 72: in dbSNP:rs8033595<li>L->S at 346</ul>									rs8033595	2
Q6UUV9	23373	<ul><li>T->A at 286: in dbSNP:rs3746266<li>V->I at 311: in dbSNP:rs36070283<li>T->A at 328: in dbSNP:rs3746266</ul>									<li>rs3746266</li><li>rs36070283</li>	2
Q6UVJ0	163786	<ul><li>A->V at 259: in dbSNP:rs13375867</ul>									rs13375867	2
Q6UVM3	343450	<ul><li>V->I at 33: in a breast cancer sample; somatic mutation<li>C->W at 413: in dbSNP:rs12738104<li>K->N at 429: in dbSNP:rs12742082</ul>									<li>rs12742082</li><li>rs12738104</li>	2
Q6UVW9	387836	<ul><li>G->D at 136: in dbSNP:rs526680</ul>									rs526680	2
Q6UVY6	26002	<ul><li>E->Q at 488: in dbSNP:rs36075540<li>K->E at 539: in dbSNP:rs17851680</ul>									<li>rs17851680</li><li>rs36075540</li>	2
Q6UW10	389376	<ul><li>N->S at 37: in dbSNP:rs3131787</ul>									rs3131787	2
Q6UW49	246777	<ul><li>L->F at 133: in dbSNP:rs3743091<li>E->G at 191: in dbSNP:rs3743093</ul>									<li>rs3743091</li><li>rs3743093</li>	2
Q6UW63	79070	<ul><li>I->V at 114: in dbSNP:rs1047740</ul>									rs1047740	2
Q6UWB4		<ul><li>R->P at 44: in dbSNP:rs4521726<li>V->A at 212: in dbSNP:rs4406360</ul>									<li>rs4406360</li><li>rs4521726</li>	2
Q6UWE0	90678	<ul><li>N->D at 318: in dbSNP:rs1539567</ul>									rs1539567	2
Q6UWF7	54827	<ul><li>Y->H at 398: in dbSNP:rs550897<li>A->V at 451: in dbSNP:rs10891705</ul>									<li>rs550897</li><li>rs10891705</li>	2
Q6UWF9	389558	<ul><li>V->I at 96: in dbSNP:rs3112374</ul>									rs3112374	2
Q6UWH4	51313	<ul><li>G->S at 432: in dbSNP:rs17857283</ul>									rs17857283	2
Q6UWJ1	55002	<ul><li>A->T at 443: in dbSNP:rs2260335<li>A->T at 445: in dbSNP:rs7319493</ul>									<li>rs7319493</li><li>rs2260335</li>	2
Q6UWL2	64420	<ul><li>Q->E at 201: in dbSNP:rs17829458<li>H->Q at 524: in dbSNP:rs17855713</ul>									<li>rs17855713</li><li>rs17829458</li>	2
Q6UWM7	197021	<ul><li>T->M at 212: in dbSNP:rs7179073<li>A->T at 240: in dbSNP:rs1030986</ul>									<li>rs1030986</li><li>rs7179073</li>	2
Q6UWN0	147719	<ul><li>T->S at 184: in dbSNP:rs35476281</ul>									rs35476281	2
Q6UWN5	284348	<ul><li>P->A at 47: in dbSNP:rs11547806</ul>									rs11547806	2
Q6UWN8	404203	<ul><li>P->T at 36: in dbSNP:rs12186491</ul>									rs12186491	2
Q6UWP7	253558	<ul><li>I->V at 290: in dbSNP:rs12471868</ul>									rs12471868	2
Q6UWQ5	84569	<ul><li>Q->P at 62: in dbSNP:rs3818551</ul>									rs3818551	2
Q6UWR7	133121	<ul><li>D->N at 357: in dbSNP:rs4488969<li>S->G at 419: in dbSNP:rs4479748</ul>									<li>rs4488969</li><li>rs4479748</li>	2
Q6UWV2	196264	<ul><li>M->V at 155: in dbSNP:rs17121966<li>V->G at 168: in dbSNP:rs36102742<li>V->M at 172: in dbSNP:rs34507994<li>D->V at 228: in dbSNP:rs7105729</ul>									<li>rs36102742</li><li>rs34507994</li><li>rs17121966</li><li>rs7105729</li>	2
Q6UWV6	339221	<ul><li>L->P at 4: in dbSNP:rs8074547</ul>									rs8074547	2
Q6UWW9	131920	<ul><li>L->V at 57: in dbSNP:rs35161724</ul>									rs35161724	2
Q6UWX4	79802	<ul><li>V->M at 241: in dbSNP:rs3811466</ul>									rs3811466	2
Q6UWY0	153642	<ul><li>Q->R at 525: in dbSNP:rs17084927</ul>									rs17084927	2
Q6UWY2	400668	<ul><li>L->P at 143: in dbSNP:rs8102982</ul>									rs8102982	2
Q6UWY5	283298	<ul><li>V->E at 113: in dbSNP:rs12805648<li>A->T at 259: in dbSNP:rs12803046</ul>									<li>rs12803046</li><li>rs12805648</li>	2
Q6UWZ7	84142	<ul><li>A->T at 239: in dbSNP:rs12642536<li>A->T at 348: common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536<li>D->N at 373: common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs13125836</ul>									<li>rs13125836</li><li>rs12642536</li>	2
Q6UX04	10283	<ul><li>P->A at 256: in dbSNP:rs7735338</ul>									rs7735338	2
Q6UX06	10562	<ul><li>S->P at 36: in dbSNP:rs35790097</ul>									rs35790097	2
Q6UX07	147015	<ul><li>R->Q at 191: in dbSNP:rs2277666<li>L->Q at 336: in dbSNP:rs4795472</ul>									<li>rs4795472</li><li>rs2277666</li>	2
Q6UX15	143903	<ul><li>E->K at 66: in dbSNP:rs11827718</ul>									rs11827718	2
Q6UX27	284415	<ul><li>G->S at 163: in dbSNP:rs2433724</ul>									rs2433724	2
Q6UX39	401138	<ul><li>N->S at 45: in dbSNP:rs7660807<li>S->P at 50: in dbSNP:rs34803339<li>G->S at 78: in a colorectal cancer sample; somatic mutation</ul>									<li>rs34803339</li><li>rs7660807</li>	2
Q6UX41	79908	<ul><li>T->A at 143: in dbSNP:rs2276995<li>E->K at 229: in dbSNP:rs7724813</ul>									<li>rs7724813</li><li>rs2276995</li>	2
Q6UX71	84898	<ul><li>V->I at 396: in dbSNP:rs3817405<li>I->V at 458: in dbSNP:rs2778979</ul>									<li>rs3817405</li><li>rs2778979</li>	2
Q6UX73	146556	<ul><li>L->S at 296: in dbSNP:rs1127920<li>Y->H at 363: in dbSNP:rs11642955</ul>									<li>rs11642955</li><li>rs1127920</li>	2
Q6UXA7	29113	<ul><li>V->M at 5: in dbSNP:rs2270191<li>L->F at 40: in dbSNP:rs2233974<li>N->D at 43: in dbSNP:rs2233975<li>G->R at 48: in dbSNP:rs2233976<li>V->A at 81: in dbSNP:rs2233977<li>A->P at 83: in dbSNP:rs1265053<li>A->P at 145: in dbSNP:rs2233978<li>K->E at 165: in dbSNP:rs1265054<li>M->I at 232: in dbSNP:rs2233982<li>G->D at 291: in dbSNP:rs2233984</ul>									<li>rs1265053</li><li>rs1265054</li><li>rs2233978</li><li>rs2233977</li><li>rs2270191</li><li>rs2233982</li><li>rs2233976</li><li>rs2233984</li><li>rs2233975</li><li>rs2233974</li>	2
Q6UXB0	131408	<ul><li>C->R at 52: in dbSNP:rs13434353<li>S->N at 260: in a breast cancer sample; somatic mutation</ul>									rs13434353	2
Q6UXB1	388555	<ul><li>T->S at 66: in dbSNP:rs10406448</ul>									rs10406448	2
Q6UXB3	137797	<ul><li>R->Q at 5: in dbSNP:rs11778314<li>A->V at 7: in dbSNP:rs11775636</ul>									<li>rs11775636</li><li>rs11778314</li>	2
Q6UXB8	221476	<ul><li>T->P at 50: in dbSNP:rs1405069<li>L->V at 416: in dbSNP:rs16889318</ul>									<li>rs16889318</li><li>rs1405069</li>	2
Q6UXC1	158056	<ul><li>P->T at 244: in a breast cancer sample; somatic mutation<li>W->G at 987: in dbSNP:rs2275156<li>R->W at 1174: in a breast cancer sample; somatic mutation</ul>									rs2275156	2
Q6UXD7	84179	<ul><li>S->P at 170: in dbSNP:rs11558585</ul>									rs11558585	2
Q6UXF1	66000	<ul><li>P->L at 84: in dbSNP:rs34111099</ul>									rs34111099	2
Q6UXG2	57535	<ul><li>I->V at 86: in dbSNP:rs678238<li>T->P at 623: in dbSNP:rs659543<li>S->R at 829: in a breast cancer sample; somatic mutation<li>L->P at 1009: in dbSNP:rs1052878</ul>									<li>rs1052878</li><li>rs659543</li><li>rs678238</li>	2
Q6UXG3	146894	<ul><li>D->N at 221: in dbSNP:rs17852267<li>T->A at 228: in dbSNP:rs12453522</ul>									<li>rs17852267</li><li>rs12453522</li>	2
Q6UXG8	153579	<ul><li>G->R at 511: in dbSNP:rs10068763</ul>									rs10068763	2
Q6UXH0	55908	<ul><li>R->W at 59: in dbSNP:rs2278426<li>R->Q at 147: in dbSNP:rs34056604</ul>									<li>rs34056604</li><li>rs2278426</li>	2
Q6UXH1	79174	<ul><li>D->E at 182: in dbSNP:rs8139422<li>S->A at 295: in dbSNP:rs11545762<li>E->G at 325: in dbSNP:rs11545763</ul>									<li>rs8139422</li><li>rs11545762</li><li>rs11545763</li>	2
Q6UXH8	147372	<ul><li>V->G at 193: in dbSNP:rs11659589</ul>									rs11659589	2
Q6UXH9	25891	<ul><li>A->T at 305: in dbSNP:rs16927482</ul>									rs16927482	2
Q6UXI9	255743	<ul><li>Q->H at 159: in dbSNP:rs35132891<li>V->I at 234: in dbSNP:rs4340795<li>G->S at 473: in dbSNP:rs35613262<li>M->T at 476: in dbSNP:rs35488797</ul>									<li>rs35488797</li><li>rs35613262</li><li>rs35132891</li><li>rs4340795</li>	2
Q6UXK2	57611	<ul><li>S->F at 137: in dbSNP:rs3889598</ul>									rs3889598	2
Q6UXK5	57633	<ul><li>L->V at 395: in dbSNP:rs35362954<li>T->P at 702: in dbSNP:rs34611357</ul>									<li>rs34611357</li><li>rs35362954</li>	2
Q6UXN2	285852	<ul><li>W->R at 73: in dbSNP:rs9369265<li>T->K at 146: in dbSNP:rs9471515<li>T->I at 168: in dbSNP:rs7769759</ul>									<li>rs9471515</li><li>rs7769759</li><li>rs9369265</li>	2
Q6UXN8	283420	<ul><li>A->G at 107: in dbSNP:rs11831360</ul>									rs11831360	2
Q6UXP3	645843	<ul><li>L->P at 82: in dbSNP:rs13077912</ul>									rs13077912	2
Q6UXP7	167555	<ul><li>T->I at 155: in dbSNP:rs369998</ul>									rs369998	2
Q6UXT9	116236	<ul><li>A->T at 334: in dbSNP:rs542939</ul>									rs542939	2
Q6UXU6	162461	<ul><li>S->N at 90: in dbSNP:rs6504642<li>S->T at 90: in dbSNP:rs6504642</ul>									rs6504642	2
Q6UXV0	389400	<ul><li>R->C at 33: in dbSNP:rs12199003<li>D->H at 195: in a breast cancer sample; somatic mutation<li>S->P at 387: in dbSNP:rs9370418</ul>									<li>rs9370418</li><li>rs12199003</li>	2
Q6UXV1	126123	<ul><li>R->C at 139: in dbSNP:rs3745498</ul>									rs3745498	2
Q6UXX5	347365	<ul><li>G->R at 387: in dbSNP:rs34188213<li>R->C at 561: in dbSNP:rs34004499<li>W->S at 1041: in dbSNP:rs17316491<li>G->A at 1170: in dbSNP:rs35355718</ul>									<li>rs34188213</li><li>rs17316491</li><li>rs34004499</li><li>rs35355718</li>	2
Q6UXX9	340419	<ul><li>L->P at 186: in dbSNP:rs601558</ul>									rs601558	2
Q6UY01	79782	<ul><li>L->F at 322: in dbSNP:rs35923425<li>A->E at 324: in dbSNP:rs3732452<li>L->F at 378: in dbSNP:rs35923425</ul>									<li>rs3732452</li><li>rs35923425</li>	2
Q6UY11	65989	<ul><li>G->R at 301: in dbSNP:rs35192247</ul>									rs35192247	2
Q6UYE1	220107	<ul><li>A->V at 83: in dbSNP:rs898861</ul>									rs898861	2
Q6V0I7	79633	<ul><li>Q->L at 453: in dbSNP:rs6847454<li>A->V at 807: in dbSNP:rs1039808<li>D->N at 2826: in dbSNP:rs12508222<li>G->D at 3524: in dbSNP:rs1567047<li>K->E at 3828: in dbSNP:rs17009684<li>S->N at 3873: in dbSNP:rs12650153<li>E->K at 4374: in dbSNP:rs11942361<li>P->S at 4972: in dbSNP:rs1014867<li>A->T at 4977: in dbSNP:rs17009858</ul>									<li>rs11942361</li><li>rs6847454</li><li>rs1014867</li><li>rs17009858</li><li>rs12650153</li><li>rs12508222</li><li>rs1039808</li><li>rs17009684</li><li>rs1567047</li>	2
Q6V0L0	340665	<ul><li>R->Q at 245: in dbSNP:rs11187265</ul>									rs11187265	2
Q6V1P9	54798	<ul><li>V->A at 153: in dbSNP:rs11721758<li>H->R at 174: in dbSNP:rs10017772<li>S->L at 344: in dbSNP:rs6858712<li>V->I at 827: in dbSNP:rs7666283<li>N->S at 897: in dbSNP:rs1352714<li>S->L at 1205: in dbSNP:rs11935573<li>T->R at 1480: in dbSNP:rs17031394<li>T->M at 2112: in dbSNP:rs17031279<li>S->N at 2303: in dbSNP:rs6824133</ul>									<li>rs10017772</li><li>rs17031394</li><li>rs7666283</li><li>rs1352714</li><li>rs6858712</li><li>rs17031279</li><li>rs6824133</li><li>rs11935573</li><li>rs11721758</li>	2
Q6V702	255119	<ul><li>T->M at 138: in dbSNP:rs11947742<li>I->V at 220: in dbSNP:rs1052325</ul>									<li>rs11947742</li><li>rs1052325</li>	2
Q6V9R5	54811	<ul><li>F->L at 178: in dbSNP:rs1059194<li>K->E at 205: in dbSNP:rs1059199</ul>									<li>rs1059194</li><li>rs1059199</li>	2
Q6VAB6	283455	<ul><li>R->S at 676: in a lung adenocarcinoma sample; somatic mutation</ul>										2
Q6VMQ6	55729	<ul><li>E->K at 278: in dbSNP:rs2231908<li>N->I at 348: in dbSNP:rs2231909<li>R->K at 530: in dbSNP:rs3213764</ul>									<li>rs2231909</li><li>rs2231908</li><li>rs3213764</li>	2
Q6VVB1	378884	<ul><li>S->R at 22: in EPM2; does not significantly alters the subcellular location as compared to the wild-type, MIM: 254780<li>C->S at 26: in EPM2: in dbSNP rsrs28940575, MIM: 254780<li>F->S at 33: in EPM2, MIM: 254780<li>E->Q at 67: in EPM2, MIM: 254780<li>C->Y at 68: in EPM2, MIM: 254780<li>P->A at 69: in EPM2: in dbSNP rsrs28940576, MIM: 254780<li>L->P at 87: in EPM2, MIM: 254780<li>P->L at 111: common polymorphism; dbSNP:rs10949483, MIM: 254780<li>L->P at 126: in EPM2; the mutant protein targeted exclusively nucleus as compared to predominantly cytoplasmic and partially nuclear localization of the wild-type protein, MIM: 254780<li>D->N at 146: in EPM2, MIM: 254780<li>I->M at 153: in EPM2, MIM: 254780<li>C->R at 160: in EPM2, MIM: 254780<li>I->N at 198: in EPM2, MIM: 254780<li>W->R at 219: in EPM2, MIM: 254780<li>D->A at 233: in EPM2, MIM: 254780<li>D->N at 245: in EPM2, MIM: 254780<li>R->K at 253: in EPM2, MIM: 254780<li>P->H at 264: in EPM2, MIM: 254780<li>L->P at 279: in EPM2; significantly alters the distribution of the protein; a great majority of cells expressing the mutant form formed perinuclear inclusion when compared with the wild-type form, MIM: 254780<li>Missing  at 294-295: in EPM2, MIM: 254780<li>Q->P at 302: in EPM2, MIM: 254780<li>D->A at 308: in EPM2, MIM: 254780</ul>	localization	GO:0051179			nucleus	GO:0005634		Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	<li>rs10949483</li><li>rs28940575</li><li>rs28940576</li>	2
Q6VVX0	120227	<ul><li>L->P at 99: in 25HOD3D; complete loss of activity: in dbSNP rsrs61495246</ul>									rs61495246	2
Q6VY07	55690	<ul><li>F->L at 302: in dbSNP:rs12798852</ul>									rs12798852	2
Q6W0C5	359787	<ul><li>E->Q at 51: in dbSNP:rs2024320</ul>									rs2024320	2
Q6W2J9	54880	<ul><li>P->L at 85: in MCOPS2: in dbSNP rsrs28935183, MIM: 300166</ul>								Microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]	rs28935183	2
Q6W5P4	387129	<ul><li>N->I at 107: in dbSNP:rs324981<li>R->Q at 122: in dbSNP rsrs35436513<li>S->G at 143: in dbSNP:rs325465<li>C->F at 197: in dbSNP rsrs34705969<li>T->I at 212: in dbSNP rsrs35537374<li>S->R at 241: in dbSNP:rs727162<li>I->T at 315: in dbSNP:rs10270766<li>Q->R at 344: in dbSNP:rs6972158</ul>									<li>rs10270766</li><li>rs35537374</li><li>rs34705969</li><li>rs324981</li><li>rs35436513</li><li>rs6972158</li><li>rs325465</li><li>rs727162</li>	2
Q6WCQ1	23164	<ul><li>P->Q at 327: in dbSNP:rs3744137</ul>									rs3744137	2
Q6WKZ4	80223	<ul><li>M->T at 1185: in dbSNP:rs7817179</ul>									rs7817179	2
Q6WQI6	641654	<ul><li>W->R at 37: in dbSNP:rs3802904</ul>									rs3802904	2
Q6WRI0	285313	<ul><li>T->I at 124: in dbSNP:rs35953658<li>Y->D at 150: in dbSNP:rs7619322<li>P->S at 571: in dbSNP:rs17204557<li>S->A at 1199: in dbSNP:rs16863403<li>T->I at 1370: in dbSNP:rs34933248<li>Y->H at 1875: in dbSNP:rs12487205<li>R->W at 2476: in dbSNP:rs3732775<li>H->Y at 2579: in dbSNP:rs7624011</ul>									<li>rs12487205</li><li>rs16863403</li><li>rs7624011</li><li>rs35953658</li><li>rs7619322</li><li>rs17204557</li><li>rs34933248</li><li>rs3732775</li>	2
Q6X4T0	121273	<ul><li>P->S at 86: in dbSNP:rs11458</ul>									rs11458	2
Q6X4U4	25928	<ul><li>Q->H at 189: in dbSNP:rs34016012</ul>									rs34016012	2
Q6X4W1	26012	<ul><li>T->A at 480: in IHH; sporadic case; could be a rare polymorphism, MIM: 146110</ul>							<li>Q98938</li><li>P79860</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P97812</li><li>P79711</li><li>Q91612</li><li>P79693</li>	Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]		2
Q6X784	124626	<ul><li>P->A at 68: in dbSNP:rs35591738<li>A->T at 118: in dbSNP:rs35829084<li>S->I at 173: in dbSNP:rs11557467<li>Q->E at 335: in dbSNP:rs35302660</ul>									<li>rs35591738</li><li>rs11557467</li><li>rs35829084</li><li>rs35302660</li>	2
Q6XLA1		<ul><li>P->S at 8: in some patients with endometrial cancer</ul>										2
Q6XPS3	93492	<ul><li>V->I at 367: in dbSNP:rs2497218</ul>									rs2497218	2
Q6XQN6	93100	<ul><li>A->V at 57: in dbSNP:rs896950</ul>									rs896950	2
Q6XXX2		<ul><li>S->T at 21: in dbSNP:rs2836662<li>N->K at 39: in dbSNP:rs11908799<li>A->S at 52: in dbSNP:rs11908743<li>M->R at 104: in dbSNP:rs16996776</ul>									<li>rs16996776</li><li>rs11908743</li><li>rs2836662</li><li>rs11908799</li>	2
Q6XYB7	85474	<ul><li>S->F at 158: in dbSNP:rs17009998</ul>									rs17009998	2
Q6XYQ8	341359	<ul><li>T->S at 420: in dbSNP:rs35190376<li>H->P at 488: in dbSNP:rs34190017<li>A->V at 505: in dbSNP:rs34361405</ul>									<li>rs35190376</li><li>rs34361405</li><li>rs34190017</li>	2
Q6XZB0	149998	<ul><li>C->Y at 55: associated with familial hypertriglyceridemia; rare mutation<li>G->E at 364<li>E->K at 431<li>D->E at 444</ul>										2
Q6XZF7	23268	<ul><li>E->D at 81: in dbSNP:rs12267912<li>N->K at 373: in dbSNP:rs35924554<li>N->K at 914: in dbSNP:rs7919507<li>C->W at 1413: in dbSNP:rs11190305</ul>									<li>rs35924554</li><li>rs11190305</li><li>rs7919507</li><li>rs12267912</li>	2
Q6Y288	145173	<ul><li>E->K at 370: in dbSNP:rs1041073</ul>									rs1041073	2
Q6Y7W6	26058	<ul><li>N->S at 56: may be associated with PARK11<li>T->A at 112: in PARK11, MIM: 607688<li>I->V at 278: in PARK11, MIM: 607688<li>S->T at 335: in PARK11, MIM: 607688<li>P->L at 423: in dbSNP:rs34845648, MIM: 607688<li>N->T at 457: in PARK11, MIM: 607688<li>P->T at 460: in dbSNP:rs2289912, MIM: 607688<li>D->E at 606: in PARK11, MIM: 607688<li>H->R at 1171, MIM: 607688<li>Missing at 1211, MIM: 607688<li>Q->QQ at 1212, MIM: 607688<li>V->I at 1242: in PARK11, MIM: 607688</ul>								Parkinson disease type 11 (PARK11) [MIM:607688]	<li>rs34845648</li><li>rs2289912</li>	2
Q6YBV0	120103	<ul><li>L->I at 209: in dbSNP:rs17854446<li>P->H at 376: in dbSNP:rs17854445<li>L->I at 429: in dbSNP:rs17854443</ul>									<li>rs17854446</li><li>rs17854445</li><li>rs17854443</li>	2
Q6YHK3	135228	<ul><li>G->V at 45: in dbSNP:rs9446983<li>G->D at 377: in dbSNP:rs7741152<li>L->F at 641: in dbSNP:rs7742662<li>Y->S at 703: in allele Gov: in dbSNP rsrs10455097<li>N->S at 797: in dbSNP:rs2351528<li>V->I at 845: in dbSNP:rs5023688<li>Q->E at 1007: in a colorectal cancer sample; somatic mutation<li>V->M at 1009: in dbSNP:rs35630075<li>N->K at 1065: in a colorectal cancer sample; somatic mutation<li>T->M at 1241: in dbSNP:rs2917862<li>H->R at 1296: in dbSNP:rs13207595</ul>									<li>rs35630075</li><li>rs10455097</li><li>rs7742662</li><li>rs2351528</li><li>rs7741152</li><li>rs9446983</li><li>rs2917862</li><li>rs5023688</li><li>rs13207595</li>	2
Q6YHU6	63892	<ul><li>E->G at 63: in dbSNP:rs10210191<li>V->I at 699: in dbSNP:rs17031056<li>T->A at 1187: in dbSNP:rs7578597<li>T->S at 1385: in dbSNP:rs33979934<li>P->S at 1451: in dbSNP:rs17334247<li>C->Y at 1605: in dbSNP:rs35720761<li>C->R at 1668: in dbSNP:rs17030648</ul>									<li>rs7578597</li><li>rs10210191</li><li>rs17030648</li><li>rs17031056</li><li>rs33979934</li><li>rs35720761</li><li>rs17334247</li>	2
Q6YP21	56267	<ul><li>S->P at 206: in dbSNP:rs1059370</ul>									rs1059370	2
Q6ZMC9	284266	<ul><li>F->L at 273: in dbSNP:rs2919643</ul>									rs2919643	2
Q6ZMD2	201305	<ul><li>R->G at 293: in dbSNP:rs34457931<li>A->S at 330: in dbSNP:rs11655342<li>A->T at 507: in a colorectal cancer sample; somatic mutation</ul>									<li>rs11655342</li><li>rs34457931</li>	2
Q6ZMI3	342035	<ul><li>S->N at 141: in dbSNP:rs17648128<li>S->N at 265: in dbSNP:rs17648128</ul>									rs17648128	2
Q6ZMJ2	286133	<ul><li>A->T at 45: in dbSNP:rs17058374<li>D->H at 316: in dbSNP:rs17058207</ul>									<li>rs17058374</li><li>rs17058207</li>	2
Q6ZMJ4	146433	<ul><li>E->Q at 123: in dbSNP:rs8046424</ul>									rs8046424	2
Q6ZMN7	29951	<ul><li>G->S at 429: in dbSNP:rs285584<li>G->R at 784: in a colorectal cancer sample; somatic mutation</ul>									rs285584	2
Q6ZMN8	645121	<ul><li>A->P at 91: in dbSNP:rs803056</ul>									rs803056	2
Q6ZMQ8	9625	<ul><li>S->F at 81: in an ovarian mucinous carcinoma sample; somatic mutation<li>L->V at 97: in a lung adenocarcinoma sample; somatic mutation<li>M->V at 104: in an ovarian mucinous carcinoma sample; somatic mutation<li>T->M at 118: in dbSNP:rs8082016<li>G->C at 703<li>S->R at 815<li>S->L at 923<li>E->K at 1160<li>P->S at 1192<li>F->S at 1266<li>A->T at 1332</ul>									rs8082016	2
Q6ZMR5	339967	<ul><li>R->Q at 293: common polymorphism; may be a susceptibility factor for developing esophageal cancer especially in smoking population; dbSNP:rs353163</ul>									rs353163	2
Q6ZMT4	80853	<ul><li>D->Y at 392: in dbSNP:rs5020212<li>R->S at 644: in dbSNP:rs6950119</ul>									<li>rs5020212</li><li>rs6950119</li>	2
Q6ZMT9	401124	<ul><li>G->R at 146: in dbSNP:rs16992035<li>D->V at 299: in dbSNP:rs1995319<li>R->C at 672: in dbSNP:rs12507599<li>R->H at 782: in dbSNP:rs9654132</ul>									<li>rs12507599</li><li>rs1995319</li><li>rs9654132</li><li>rs16992035</li>	2
Q6ZMU1	388503	<ul><li>R->Q at 172: in dbSNP:rs8113341<li>D->N at 230: in dbSNP:rs10403787<li>D->G at 251: in dbSNP:rs1993466<li>L->R at 262: in dbSNP:rs4552116</ul>									<li>rs4552116</li><li>rs8113341</li><li>rs10403787</li><li>rs1993466</li>	2
Q6ZMV9	221458	<ul><li>A->E at 386: in a breast cancer sample; somatic mutation<li>R->H at 512: in dbSNP:rs2273063<li>W->R at 719: in dbSNP:rs20455</ul>									<li>rs2273063</li><li>rs20455</li>	2
Q6ZMW2	158431	<ul><li>R->P at 130: in dbSNP:rs7870376<li>R->H at 165: in dbSNP:rs4645656<li>N->S at 246: in dbSNP:rs34763627<li>T->A at 289: in dbSNP:rs35403084</ul>									<li>rs34763627</li><li>rs4645656</li><li>rs35403084</li><li>rs7870376</li>	2
Q6ZMY3	90853	<ul><li>T->A at 109: in dbSNP:rs6664445<li>R->W at 436: in dbSNP:rs6669563<li>R->W at 671: in a breast cancer sample; somatic mutation</ul>									<li>rs6664445</li><li>rs6669563</li>	2
Q6ZMY6	126248	<ul><li>D->H at 166: in a breast cancer sample; somatic mutation<li>R->C at 310: in dbSNP:rs11881580</ul>									rs11881580	2
Q6ZMZ3	161176	<ul><li>T->M at 668: in dbSNP:rs9671369<li>R->H at 864: in dbSNP:rs17092216<li>A->V at 923: in dbSNP:rs12434757<li>I->V at 946: in dbSNP:rs10130647</ul>									<li>rs9671369</li><li>rs12434757</li><li>rs17092216</li><li>rs10130647</li>	2
Q6ZN03	100126693	<ul><li>L->F at 116: in dbSNP:rs564352<li>A->T at 149: in dbSNP:rs2838262</ul>									<li>rs564352</li><li>rs2838262</li>	2
Q6ZN06	126017	<ul><li>A->T at 62: in dbSNP:rs2617667<li>D->V at 93: in dbSNP:rs12609217<li>I->F at 168: in dbSNP:rs12460628<li>Y->C at 192: in dbSNP:rs3859494<li>R->K at 231: in dbSNP:rs10421308<li>Y->F at 439: in dbSNP:rs10422163</ul>									<li>rs12460628</li><li>rs3859494</li><li>rs10421308</li><li>rs2617667</li><li>rs10422163</li><li>rs12609217</li>	2
Q6ZN11	390927	<ul><li>I->M at 68: in dbSNP:rs12977460</ul>									rs12977460	2
Q6ZN16	389840	<ul><li>A->T at 192<li>S->N at 199<li>D->H at 226<li>R->S at 255: in a lung squamous cell carcinoma sample; somatic mutation<li>S->G at 456<li>R->C at 494<li>S->L at 562: in a lung adenocarcinoma sample; somatic mutation<li>R->Q at 677: in a metastatic melanoma sample; somatic mutation<li>G->S at 838<li>S->L at 993<li>N->H at 1029<li>W->R at 1247: in a colorectal adenocarcinoma sample; somatic mutation<li>Q->E at 1251</ul>										2
Q6ZN28	346389	<ul><li>L->V at 31: in dbSNP:rs4721888<li>P->L at 50: in dbSNP:rs17142503<li>S->L at 515: in dbSNP:rs975263<li>E->A at 728: in dbSNP:rs12671170<li>R->T at 804: in dbSNP:rs3735615</ul>									<li>rs12671170</li><li>rs3735615</li><li>rs17142503</li><li>rs975263</li><li>rs4721888</li>	2
Q6ZN30	54796	<ul><li>L->V at 550: in dbSNP:rs4961490<li>T->A at 782: in dbSNP:rs3739714</ul>									<li>rs4961490</li><li>rs3739714</li>	2
Q6ZN32	440695	<ul><li>S->A at 19: in dbSNP:rs16838078<li>R->W at 151: in dbSNP:rs12083811<li>G->A at 263: in dbSNP:rs12136960<li>M->V at 318: in dbSNP:rs12126791</ul>									<li>rs16838078</li><li>rs12126791</li><li>rs12136960</li><li>rs12083811</li>	2
Q6ZN55	64763	<ul><li>R->Q at 332: in dbSNP:rs3745226<li>T->S at 711: in dbSNP:rs35898322<li>R->Q at 785: in dbSNP:rs3745228</ul>									<li>rs3745228</li><li>rs3745226</li><li>rs35898322</li>	2
Q6ZN57	80108	<ul><li>Q->H at 113: in dbSNP:rs28678700<li>R->G at 142: in dbSNP:rs11956147</ul>									<li>rs28678700</li><li>rs11956147</li>	2
Q6ZN66	163351	<ul><li>T->I at 278: in dbSNP:rs4582772<li>A->S at 331: in dbSNP:rs4658359<li>L->F at 344: in dbSNP:rs4658360<li>M->V at 355: in dbSNP:rs4658146<li>D->V at 520: in dbSNP:rs959460</ul>									<li>rs4658360</li><li>rs4582772</li><li>rs4658146</li><li>rs4658359</li><li>rs959460</li>	2
Q6ZN68		<ul><li>M->V at 66: in dbSNP:rs7796589<li>N->I at 333: in dbSNP:rs17136078</ul>									<li>rs7796589</li><li>rs17136078</li>	2
Q6ZN79	440077	<ul><li>K->Q at 142: in dbSNP:rs10743253</ul>									rs10743253	2
Q6ZN84	60494	<ul><li>Y->C at 449: in dbSNP:rs3741005</ul>									rs3741005	2
Q6ZN90	649179	<ul><li>R->Q at 7: in dbSNP:rs986645<li>E->D at 25: in dbSNP:rs369613<li>A->T at 186: in dbSNP:rs238775<li>L->F at 291: in dbSNP:rs238774<li>R->K at 396: in dbSNP:rs9607485</ul>									<li>rs9607485</li><li>rs986645</li><li>rs238775</li><li>rs369613</li><li>rs238774</li>	2
Q6ZNA1	162962	<ul><li>M->I at 219: in dbSNP:rs1366245<li>N->S at 809: in dbSNP:rs8113504</ul>									<li>rs1366245</li><li>rs8113504</li>	2
Q6ZNA4	54778	<ul><li>K->N at 9: in dbSNP:rs2899642</ul>									rs2899642	2
Q6ZNB6	152518	<ul><li>P->L at 246: in dbSNP:rs12651301</ul>									rs12651301	2
Q6ZNC4	619279	<ul><li>A->S at 35: in dbSNP:rs3907424</ul>									rs3907424	2
Q6ZNC8	154141	<ul><li>I->V at 450: in dbSNP:rs2065649</ul>									rs2065649	2
Q6ZNE5	22863	<ul><li>N->K at 131: in dbSNP:rs17675076</ul>									rs17675076	2
Q6ZNG2	440097	<ul><li>V->M at 171: in dbSNP:rs2731038</ul>									rs2731038	2
Q6ZNG9	124751	<ul><li>T->M at 435: in dbSNP:rs370752</ul>									rs370752	2
Q6ZNJ1	23218	<ul><li>R->H at 447: in dbSNP:rs17079425<li>R->G at 511: in dbSNP:rs11720139<li>A->G at 1877: in dbSNP:rs4682830<li>S->F at 2054: in dbSNP:rs2305637<li>E->K at 2747: in dbSNP:rs12893</ul>									<li>rs17079425</li><li>rs12893</li><li>rs2305637</li><li>rs11720139</li><li>rs4682830</li>	2
Q6ZNQ3	100130742	<ul><li>T->I at 64: in dbSNP:rs11785003</ul>									rs11785003	2
Q6ZNW5		<ul><li>T->M at 37: in dbSNP:rs7171194<li>T->P at 264: in dbSNP:rs10152994<li>I->T at 307: in dbSNP:rs10153004</ul>									<li>rs10153004</li><li>rs7171194</li><li>rs10152994</li>	2
Q6ZP01	375316	<ul><li>D->H at 52: in dbSNP:rs13393001<li>N->H at 892: in dbSNP:rs10186505</ul>									<li>rs10186505</li><li>rs13393001</li>	2
Q6ZP29	54896	<ul><li>S->N at 16: in dbSNP:rs12140547</ul>									rs12140547	2
Q6ZP80	130827	<ul><li>R->W at 223: in dbSNP:rs887987</ul>									rs887987	2
Q6ZP82	285025	<ul><li>R->W at 253: in dbSNP:rs12988301<li>R->W at 360: in dbSNP:rs17362588<li>N->S at 595: in dbSNP:rs13419085</ul>									<li>rs17362588</li><li>rs13419085</li><li>rs12988301</li>	2
Q6ZPD9	147991	<ul><li>M->V at 350: in dbSNP:rs8105178</ul>									rs8105178	2
Q6ZQR2	389799	<ul><li>G->R at 137: in dbSNP:rs7047726<li>R->W at 172: in a colorectal cancer sample; somatic mutation<li>R->H at 184: in dbSNP:rs11243798</ul>									<li>rs7047726</li><li>rs11243798</li>	2
Q6ZQR6		<ul><li>H->R at 7: in dbSNP:rs485411<li>S->R at 57: in dbSNP:rs501764</ul>									<li>rs501764</li><li>rs485411</li>	2
Q6ZQW0	169355	<ul><li>R->W at 235: in dbSNP:rs10109853</ul>									rs10109853	2
Q6ZQX7	400566	<ul><li>E->K at 56: in dbSNP:rs4581766<li>E->D at 220: in dbSNP:rs35229416</ul>									<li>rs35229416</li><li>rs4581766</li>	2
Q6ZQY2		<ul><li>G->R at 3: in dbSNP:rs12170538<li>R->C at 77: in dbSNP:rs9620774</ul>									<li>rs12170538</li><li>rs9620774</li>	2
Q6ZR08	201625	<ul><li>Y->F at 2740: in dbSNP:rs17057989<li>G->S at 2893: in dbSNP:rs4060726</ul>									<li>rs4060726</li><li>rs17057989</li>	2
Q6ZR37	440107	<ul><li>D->G at 99: in dbSNP:rs17790310<li>M->T at 212: in dbSNP:rs924326</ul>									<li>rs924326</li><li>rs17790310</li>	2
Q6ZR52	284443	<ul><li>C->F at 195: in dbSNP:rs4621113<li>L->V at 292: in dbSNP:rs10414834</ul>									<li>rs10414834</li><li>rs4621113</li>	2
Q6ZR62	340595	<ul><li>L->P at 27: in dbSNP:rs6568050<li>D->Y at 162: in dbSNP:rs7474140</ul>									<li>rs6568050</li><li>rs7474140</li>	2
Q6ZRC1	389197	<ul><li>R->W at 86: in dbSNP:rs16837960<li>A->P at 150: in a breast cancer sample; somatic mutation<li>I->V at 177: in dbSNP:rs6839295<li>V->M at 199: in dbSNP:rs7695618</ul>									<li>rs6839295</li><li>rs7695618</li><li>rs16837960</li>	2
Q6ZRF7		<ul><li>E->K at 14: in dbSNP:rs10853858</ul>									rs10853858	2
Q6ZRF8	388591	<ul><li>A->T at 421: in dbSNP:rs12073329<li>N->S at 573: in dbSNP:rs709209<li>G->A at 603: in dbSNP:rs846111</ul>									<li>rs846111</li><li>rs709209</li><li>rs12073329</li>	2
Q6ZRI0	340990	<ul><li>T->S at 375: in dbSNP:rs7130190<li>T->M at 659: in dbSNP:rs7112749<li>S->P at 692: in dbSNP:rs7106548<li>A->T at 919: in dbSNP:rs2355466<li>R->Q at 1075: in dbSNP:rs11024333<li>A->V at 1112: in dbSNP:rs7936324<li>P->L at 1129: in dbSNP:rs7936354<li>A->G at 1399: in dbSNP:rs4491195<li>P->L at 1647: in dbSNP:rs2041028<li>A->V at 1832: in dbSNP:rs1003490<li>T->M at 1947: in dbSNP:rs7111528<li>A->V at 2006: in dbSNP:rs11024341<li>R->Q at 2750: in dbSNP:rs12422210<li>W->S at 2909: in dbSNP:rs11024357</ul>									<li>rs7936354</li><li>rs1003490</li><li>rs11024341</li><li>rs12422210</li><li>rs7936324</li><li>rs7112749</li><li>rs7106548</li><li>rs7130190</li><li>rs11024333</li><li>rs11024357</li><li>rs2041028</li><li>rs2355466</li><li>rs4491195</li><li>rs7111528</li>	2
Q6ZRI6	56905	<ul><li>A->P at 119: in dbSNP:rs1873379<li>D->G at 491: in dbSNP:rs11072532<li>S->A at 536: in dbSNP:rs28509789<li>D->G at 945: in dbSNP:rs3743211</ul>									<li>rs1873379</li><li>rs28509789</li><li>rs3743211</li><li>rs11072532</li>	2
Q6ZRM9		<ul><li>A->V at 149: in dbSNP:rs12667117<li>V->M at 158: in dbSNP:rs12671601<li>F->L at 205: in dbSNP:rs10274643</ul>									<li>rs12671601</li><li>rs12667117</li><li>rs10274643</li>	2
Q6ZRN7	100128770	<ul><li>A->G at 108: in dbSNP:rs7206805</ul>									rs7206805	2
Q6ZRP5	100129240	<ul><li>R->H at 2: in dbSNP:rs11944677</ul>									rs11944677	2
Q6ZRP7	169714	<ul><li>K->E at 126: in dbSNP:rs12380852</ul>									rs12380852	2
Q6ZRQ5	253714	<ul><li>N->D at 419: in dbSNP:rs9374435<li>T->M at 564: in dbSNP:rs9481410<li>V->A at 875: in dbSNP:rs1737145<li>P->L at 1015: in dbSNP:rs10484830</ul>									<li>rs1737145</li><li>rs10484830</li><li>rs9374435</li><li>rs9481410</li>	2
Q6ZRS4	223075	<ul><li>A->D at 32: in dbSNP:rs7811042<li>L->V at 105: in a colorectal cancer sample; somatic mutation<li>V->A at 342: in dbSNP:rs4141001<li>Y->C at 661: in dbSNP:rs10247620<li>H->Y at 739: in dbSNP:rs7799540</ul>									<li>rs10247620</li><li>rs4141001</li><li>rs7799540</li><li>rs7811042</li>	2
Q6ZS02		<ul><li>L->V at 147: in dbSNP:rs4965539</ul>									rs4965539	2
Q6ZS11	126432	<ul><li>P->L at 288: in dbSNP:rs8110393</ul>									rs8110393	2
Q6ZS81	57705	<ul><li>S->P at 214: in dbSNP:rs7072606<li>S->F at 944: in dbSNP:rs12242384<li>S->N at 2527: in dbSNP:rs2663046</ul>									<li>rs2663046</li><li>rs7072606</li><li>rs12242384</li>	2
Q6ZS82	388531	<ul><li>A->S at 96: in dbSNP:rs259290</ul>									rs259290	2
Q6ZSC3	375287	<ul><li>I->V at 259: in dbSNP:rs35749426</ul>									rs35749426	2
Q6ZSG2	642938	<ul><li>A->V at 147: in dbSNP:rs11594560</ul>									rs11594560	2
Q6ZSH3		<ul><li>E->D at 145: in dbSNP:rs2879897</ul>									rs2879897	2
Q6ZSI9	147968	<ul><li>C->R at 287: in dbSNP:rs12983010</ul>									rs12983010	2
Q6ZSJ8		<ul><li>P->Q at 39: in dbSNP:rs11539701</ul>									rs11539701	2
Q6ZSS7	54842	<ul><li>R->G at 205: in dbSNP:rs9646748</ul>									rs9646748	2
Q6ZST4		<ul><li>T->A at 68: in dbSNP:rs17578859</ul>									rs17578859	2
Q6ZSY5	89801	<ul><li>F->S at 351: in dbSNP:rs17148347</ul>									rs17148347	2
Q6ZSZ5	23370	<ul><li>R->Q at 701: in dbSNP:rs2287918<li>R->Q at 752: in dbSNP:rs2287920</ul>									<li>rs2287918</li><li>rs2287920</li>	2
Q6ZT07	23158	<ul><li>E->K at 7: in dbSNP:rs13108827<li>E->K at 779: in dbSNP:rs13118702</ul>									<li>rs13118702</li><li>rs13108827</li>	2
Q6ZT83		<ul><li>R->W at 88: in dbSNP:rs6565904</ul>									rs6565904	2
Q6ZTK2		<ul><li>Q->R at 100: in dbSNP:rs8050530<li>Q->H at 183: in dbSNP:rs7206698<li>V->A at 275: in dbSNP:rs12932948<li>E->Q at 330: in dbSNP:rs12933868<li>V->I at 345: in dbSNP:rs13337464<li>T->A at 368: in dbSNP:rs4467099<li>W->R at 419: in dbSNP:rs4238608</ul>									<li>rs7206698</li><li>rs4238608</li><li>rs12932948</li><li>rs4467099</li><li>rs13337464</li><li>rs12933868</li><li>rs8050530</li>	2
Q6ZTQ3	166824	<ul><li>S->P at 163: in dbSNP:rs12507775<li>A->G at 306: in dbSNP:rs17804499</ul>									<li>rs12507775</li><li>rs17804499</li>	2
Q6ZTQ4	222256	<ul><li>V->M at 55: in dbSNP:rs35008315<li>Q->H at 61: in dbSNP:rs34426483<li>C->Y at 529: in dbSNP:rs6967330</ul>									<li>rs34426483</li><li>rs35008315</li><li>rs6967330</li>	2
Q6ZTR7	339145	<ul><li>E->K at 22: in dbSNP:rs9934891</ul>									rs9934891	2
Q6ZTR8	201625	<ul><li>V->A at 32: in dbSNP:rs9311651<li>S->N at 139: in dbSNP:rs6778837<li>D->E at 224: in dbSNP:rs6445902<li>T->A at 231: in dbSNP:rs7629743</ul>									<li>rs6445902</li><li>rs7629743</li><li>rs6778837</li><li>rs9311651</li>	2
Q6ZTY8	374467	<ul><li>G->S at 387: in dbSNP:rs11108639<li>P->L at 593: in dbSNP:rs11108643<li>K->E at 666: in dbSNP:rs7968231<li>E->K at 710: in dbSNP:rs10860073<li>V->A at 783: in dbSNP:rs7978894<li>N->S at 790: in dbSNP:rs1990828<li>P->H at 1107: in dbSNP:rs12581184</ul>									<li>rs1990828</li><li>rs11108639</li><li>rs12581184</li><li>rs7978894</li><li>rs10860073</li><li>rs7968231</li><li>rs11108643</li>	2
Q6ZU11	91431	<ul><li>I->T at 232: in dbSNP:rs3828539<li>S->L at 390: in dbSNP:rs17605622<li>S->C at 518: in dbSNP:rs3762891</ul>									<li>rs3762891</li><li>rs3828539</li><li>rs17605622</li>	2
Q6ZU35	57482	<ul><li>L->I at 269: in dbSNP:rs6823339<li>P->R at 655: in dbSNP:rs7672073<li>R->Q at 710: in dbSNP:rs3796546<li>S->L at 776: in dbSNP:rs3796547</ul>									<li>rs3796547</li><li>rs7672073</li><li>rs6823339</li><li>rs3796546</li>	2
Q6ZU52	9729	<ul><li>S->R at 61: in dbSNP:rs3734447<li>S->L at 331: in dbSNP:rs2236026</ul>									<li>rs3734447</li><li>rs2236026</li>	2
Q6ZU64	255101	<ul><li>M->L at 66: in dbSNP:rs6736922<li>V->I at 672: in dbSNP:rs13403802<li>K->M at 806: in dbSNP:rs9653262<li>N->S at 1858: in dbSNP:rs11893183</ul>									<li>rs13403802</li><li>rs11893183</li><li>rs6736922</li><li>rs9653262</li>	2
Q6ZU65	254048	<ul><li>P->A at 1308: in dbSNP:rs17160850</ul>									rs17160850	2
Q6ZU80	145508	<ul><li>R->L at 16: in dbSNP:rs7160694<li>H->R at 732: in dbSNP:rs327463</ul>									<li>rs327463</li><li>rs7160694</li>	2
Q6ZUB1	286234	<ul><li>T->P at 335: in dbSNP:rs7850542<li>V->M at 409: in dbSNP:rs34946554<li>K->E at 586: in dbSNP:rs35232271<li>T->M at 671: in dbSNP:rs36079890<li>D->E at 682: in dbSNP:rs4076795<li>G->R at 700: in dbSNP:rs34017995<li>D->E at 704: in dbSNP:rs4076794<li>A->V at 736: in dbSNP:rs34791830<li>P->L at 924: in dbSNP:rs34051334<li>V->E at 1019: in dbSNP:rs10868670<li>D->G at 1202: in dbSNP:rs11789780<li>R->H at 1350: in dbSNP:rs11142017</ul>									<li>rs11142017</li><li>rs10868670</li><li>rs34017995</li><li>rs11789780</li><li>rs34791830</li><li>rs36079890</li><li>rs34946554</li><li>rs34051334</li><li>rs7850542</li><li>rs4076794</li><li>rs35232271</li><li>rs4076795</li>	2
Q6ZUF6	401253	<ul><li>S->R at 13: in dbSNP:rs7759154<li>L->P at 73: in dbSNP:rs210162<li>P->S at 84: in dbSNP:rs9469517</ul>									<li>rs9469517</li><li>rs210162</li><li>rs7759154</li>	2
Q6ZUJ4	375341	<ul><li>E->K at 110: in dbSNP:rs13077498</ul>									rs13077498	2
Q6ZUJ8	118788	<ul><li>E->K at 21: in dbSNP:rs17112076<li>A->S at 83: in dbSNP:rs3748229<li>E->K at 551: in dbSNP:rs3748233<li>K->R at 638: in dbSNP:rs12784975</ul>									<li>rs17112076</li><li>rs12784975</li><li>rs3748233</li><li>rs3748229</li>	2
Q6ZUL3	389649	<ul><li>R->H at 81: in dbSNP:rs1378332</ul>									rs1378332	2
Q6ZUM4	201175	<ul><li>Q->H at 889: in dbSNP:rs34793644</ul>									rs34793644	2
Q6ZUT3	90167	<ul><li>G->E at 24: in NYS1, MIM: 310700<li>G->R at 24: in NYS1, MIM: 310700<li>L->R at 142: in NYS1, MIM: 310700<li>N->D at 221: in NYS1, MIM: 310700<li>A->T at 226: in NYS1, MIM: 310700<li>L->V at 231: in NYS1, MIM: 310700<li>A->P at 266: in NYS1, MIM: 310700<li>C->Y at 271: in NYS1, MIM: 310700<li>S->L at 281: in dbSNP:rs5977625, MIM: 310700<li>Y->C at 301: in NYS1, MIM: 310700<li>S->L at 340: in NYS1, MIM: 310700<li>R->H at 468: in dbSNP:rs6637934, MIM: 310700</ul>								X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	<li>rs5977625</li><li>rs6637934</li>	2
Q6ZUT6	388115	<ul><li>G->E at 189: in a colorectal cancer sample; somatic mutation</ul>										2
Q6ZUT9	160518	<ul><li>R->K at 52: in dbSNP:rs4930979<li>H->N at 487: in dbSNP:rs1056320</ul>									<li>rs1056320</li><li>rs4930979</li>	2
Q6ZUX3	165186	<ul><li>A->T at 55: in dbSNP:rs13009279<li>Q->R at 265: in dbSNP:rs12623297<li>Q->R at 362: in dbSNP:rs11127202<li>I->V at 441: in dbSNP:rs1109758<li>V->A at 535: in dbSNP:rs6721861<li>T->A at 941: in dbSNP:rs895591<li>G->V at 944: in dbSNP:rs7577483</ul>									<li>rs13009279</li><li>rs895591</li><li>rs6721861</li><li>rs11127202</li><li>rs12623297</li><li>rs7577483</li><li>rs1109758</li>	2
Q6ZUX7	10184	<ul><li>I->V at 102: in dbSNP:rs2303654</ul>									rs2303654	2
Q6ZV23		<ul><li>I->V at 287: in dbSNP:rs1488596</ul>									rs1488596	2
Q6ZV29	375775	<ul><li>R->Q at 323: in dbSNP:rs11137410<li>Q->E at 364: in dbSNP:rs3750378<li>E->D at 368: in dbSNP:rs3750379<li>V->A at 803: in dbSNP:rs1891630<li>V->M at 824: in dbSNP:rs34938599<li>P->L at 908: in dbSNP:rs3812499<li>L->M at 993: in dbSNP:rs35177111</ul>									<li>rs34938599</li><li>rs1891630</li><li>rs3812499</li><li>rs11137410</li><li>rs35177111</li><li>rs3750378</li><li>rs3750379</li>	2
Q6ZV73	55785	<ul><li>Q->R at 257: in dbSNP:rs10507047<li>E->K at 1393: in dbSNP:rs3794255</ul>									<li>rs3794255</li><li>rs10507047</li>	2
Q6ZV77	401563	<ul><li>K->E at 168: in dbSNP:rs12337910</ul>									rs12337910	2
Q6ZVD7	219736	<ul><li>R->P at 18: in PEE4, MIM: 609404<li>Y->H at 153: in PEE4; dbSNP:rs1341667, MIM: 609404<li>E->D at 608: in dbSNP:rs10509305, MIM: 609404<li>N->I at 825: in PEE4: in dbSNP rsrs41278532, MIM: 609404<li>A->T at 863: in dbSNP:rs7904300, MIM: 609404</ul>								Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]	<li>rs7904300</li><li>rs1341667</li><li>rs41278532</li><li>rs10509305</li>	2
Q6ZVF9	285513	<ul><li>L->V at 39: in dbSNP:rs11734353<li>A->V at 378: in dbSNP:rs6811370<li>S->P at 382: in dbSNP:rs28622301<li>P->S at 390: in dbSNP:rs11733183<li>V->A at 446: in dbSNP:rs7653897<li>R->K at 746: in dbSNP:rs17015286</ul>									<li>rs28622301</li><li>rs17015286</li><li>rs11733183</li><li>rs6811370</li><li>rs11734353</li><li>rs7653897</li>	2
Q6ZVH7	339768	<ul><li>R->Q at 167: in dbSNP:rs34046909<li>I->V at 568: in dbSNP:rs13033248<li>A->S at 574: in dbSNP:rs13006204<li>A->V at 761: in dbSNP:rs4663845<li>Q->R at 829: in dbSNP:rs10172220</ul>									<li>rs13006204</li><li>rs4663845</li><li>rs10172220</li><li>rs34046909</li><li>rs13033248</li>	2
Q6ZVL8	100128231	<ul><li>T->A at 30: in dbSNP:rs8060538<li>G->R at 75: in dbSNP:rs8055082<li>K->R at 82: in dbSNP:rs9940490<li>P->S at 105: in dbSNP:rs8053661<li>C->S at 136: in dbSNP:rs8055382</ul>									<li>rs9940490</li><li>rs8060538</li><li>rs8055082</li><li>rs8055382</li><li>rs8053661</li>	2
Q6ZVN6		<ul><li>S->I at 53: in dbSNP:rs2289585</ul>									rs2289585	2
Q6ZVN8	148738	<ul><li>C->R at 80: in HFE2A: in dbSNP rsrs28940586, MIM: 602390<li>S->P at 85: in HFE2A, MIM: 602390<li>G->R at 99: in HFE2A, MIM: 602390<li>L->P at 101: in HFE2A, MIM: 602390<li>A->D at 168: in HFE2A, MIM: 602390<li>F->S at 170: in HFE2A, MIM: 602390<li>D->E at 172: in HFE2A, MIM: 602390<li>W->C at 191: in HFE2A, MIM: 602390<li>S->R at 205: in HFE2A, MIM: 602390<li>I->N at 222: in HFE2A, MIM: 602390<li>G->V at 250: in HFE2A, MIM: 602390<li>R->W at 288: in HFE2A, MIM: 602390<li>A->G at 310: in dbSNP:rs7540883, MIM: 602390<li>G->V at 320: in HFE2A, MIM: 602390<li>C->W at 321: in HFE2A, MIM: 602390</ul>								Hemochromatosis type 2A (HFE2A) [MIM:602390]	<li>rs7540883</li><li>rs28940586</li>	2
Q6ZVT0	254173	<ul><li>A->T at 130: in a colorectal cancer sample; somatic mutation<li>V->A at 249: in dbSNP:rs13374146<li>S->N at 448: in dbSNP:rs1320571</ul>									<li>rs13374146</li><li>rs1320571</li>	2
Q6ZVW7	400935	<ul><li>L->P at 333: in dbSNP:rs5771069</ul>									rs5771069	2
Q6ZVZ8	401036	<ul><li>A->T at 104: in dbSNP:rs6756597<li>A->P at 127: in dbSNP:rs7588748<li>H->N at 407: in dbSNP:rs10177957</ul>									<li>rs10177957</li><li>rs6756597</li><li>rs7588748</li>	2
Q6ZW49	22976	<ul><li>M->V at 979: in dbSNP:rs3501</ul>									rs3501	2
Q6ZW61	166379	<ul><li>I->T at 39<li>Missing  at 113: in BBS12<li>E->D at 126: in dbSNP:rs309369<li>P->L at 159: in BBS12; pathogenicity uncertain, MIM: 209900<li>I->V at 170, MIM: 209900<li>K->R at 195: in dbSNP:rs17854892, MIM: 209900<li>N->K at 238: in dbSNP:rs17006082, MIM: 209900<li>A->P at 289: in BBS12, MIM: 209900<li>Q->R at 386: in dbSNP:rs309370, MIM: 209900<li>S->T at 429: in dbSNP:rs7665271, MIM: 209900<li>N->H at 461: in dbSNP:rs10027479, MIM: 209900<li>D->N at 467: in dbSNP:rs13135778, MIM: 209900<li>R->K at 484: in dbSNP:rs35690634, MIM: 209900<li>G->V at 540: in BBS12, MIM: 209900<li>A->V at 615: in dbSNP:rs17857451, MIM: 209900</ul>								Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]	<li>rs17006082</li><li>rs309370</li><li>rs17857451</li><li>rs17854892</li><li>rs13135778</li><li>rs309369</li><li>rs35690634</li><li>rs10027479</li><li>rs7665271</li>	2
Q6ZW76	124401	<ul><li>A->T at 404: in dbSNP:rs863980<li>A->T at 593: in dbSNP:rs9936675</ul>									<li>rs863980</li><li>rs9936675</li>	2
Q6ZWB6	386617	<ul><li>P->L at 329: in dbSNP:rs13115990</ul>									rs13115990	2
Q6ZWH5	152110	<ul><li>F->L at 50<li>A->V at 66: in an ovarian mucinous carcinoma sample; somatic mutation<li>G->S at 67<li>E->K at 379: in a metastatic melanoma sample; somatic mutation<li>L->S at 513<li>N->S at 659<li>L->V at 701</ul>										2
Q6ZWI9	442247	<ul><li>G->D at 234: in dbSNP:rs11153361</ul>									rs11153361	2
Q6ZWJ8	375616	<ul><li>G->E at 47: in dbSNP:rs7787221</ul>									rs7787221	2
Q6ZWK6	389208	<ul><li>A->T at 4: in dbSNP:rs10030708<li>D->N at 124: in dbSNP:rs1438391</ul>									<li>rs1438391</li><li>rs10030708</li>	2
Q6ZWL3	285440	<ul><li>L->V at 22: in dbSNP:rs1055138<li>W->R at 44: in BCD, MIM: 210370<li>G->S at 61: in BCD, MIM: 210370<li>E->D at 79: in BCD, MIM: 210370<li>I->T at 111: in BCD, MIM: 210370<li>M->V at 123: in BCD, MIM: 210370<li>S->N at 213: in dbSNP:rs34331648, MIM: 210370<li>K->Q at 259: in dbSNP:rs13146272, MIM: 210370<li>H->P at 331: in BCD, MIM: 210370<li>S->P at 341: in BCD, MIM: 210370<li>R->H at 508: in BCD, MIM: 210370</ul>								Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	<li>rs1055138</li><li>rs13146272</li><li>rs34331648</li>	2
Q6ZWT7	129642	<ul><li>T->A at 501: in dbSNP:rs16866827</ul>									rs16866827	2
Q6ZYL4	404672	<ul><li>L->P at 21: in TTDP, MIM: 601675</ul>								Trichothiodystrophy photosensitive (TTDP) [MIM:601675]		2
Q702N8	165904	<ul><li>D->N at 3: in dbSNP:rs2271488<li>Q->R at 346: in dbSNP:rs6805248<li>R->Q at 551: in dbSNP:rs34121641<li>L->H at 929: in a breast cancer sample; somatic mutation<li>H->P at 965: in dbSNP:rs11711871<li>P->A at 1046: in dbSNP:rs35649793<li>G->R at 1604: in dbSNP:rs3732383<li>A->V at 1608: in dbSNP:rs34810344<li>R->K at 1634: in a breast cancer sample; somatic mutation<li>I->V at 1724: in dbSNP:rs9827576</ul>									<li>rs2271488</li><li>rs3732383</li><li>rs9827576</li><li>rs11711871</li><li>rs34810344</li><li>rs35649793</li><li>rs6805248</li><li>rs34121641</li>	2
Q709C8	54832	<ul><li>R->H at 153: in dbSNP:rs12595158<li>R->K at 974: in dbSNP:rs3784634<li>I->V at 1132: in dbSNP:rs3784635<li>Y->C at 1302: in dbSNP:rs2303405<li>T->A at 1485: in dbSNP:rs8026956<li>I->V at 1495: in dbSNP:rs11629598<li>S->Y at 1592: in dbSNP:rs11629838<li>V->M at 2322: in dbSNP:rs12907567<li>K->R at 2808: in dbSNP:rs34060567<li>S->N at 2913: in dbSNP:rs10851704</ul>									<li>rs11629598</li><li>rs3784635</li><li>rs3784634</li><li>rs10851704</li><li>rs2303405</li><li>rs12595158</li><li>rs34060567</li><li>rs12907567</li><li>rs8026956</li><li>rs11629838</li>	2
Q709F0	84129	<ul><li>R->H at 157: in dbSNP:rs821572<li>V->L at 362: in dbSNP:rs6776576</ul>									<li>rs821572</li><li>rs6776576</li>	2
Q70CQ2	9736	<ul><li>M->T at 661: in dbSNP:rs6722430<li>L->R at 1663: in dbSNP:rs6723818<li>D->N at 2348: in dbSNP:rs4386306</ul>									<li>rs6722430</li><li>rs4386306</li><li>rs6723818</li>	2
Q70CQ4	57478	<ul><li>D->Y at 445: in dbSNP:rs1978066<li>Q->H at 532: in dbSNP:rs4597335<li>I->T at 538: in dbSNP:rs13339649<li>A->T at 552: in dbSNP:rs9932912<li>R->L at 931: in dbSNP:rs10083789<li>D->N at 1269: in dbSNP:rs35541113<li>R->C at 1309: in dbSNP:rs35254998</ul>									<li>rs13339649</li><li>rs1978066</li><li>rs4597335</li><li>rs9932912</li><li>rs35254998</li><li>rs35541113</li><li>rs10083789</li>	2
Q70E73	65059	<ul><li>A->S at 891: in a breast cancer sample; somatic mutation<li>T->A at 1228: in a breast cancer sample; somatic mutation</ul>										2
Q70EK8	54532	<ul><li>S->R at 962: in dbSNP:rs3749591</ul>									rs3749591	2
Q70EL1	159195	<ul><li>L->V at 505: in a breast cancer sample; somatic mutation<li>K->E at 976: in dbSNP:rs1618542<li>D->N at 1231: in dbSNP:rs4619071<li>G->D at 1367: in dbSNP:rs7083344</ul>									<li>rs1618542</li><li>rs7083344</li><li>rs4619071</li>	2
Q70EL2		<ul><li>K->E at 67: in dbSNP:rs7744845<li>S->N at 778: in dbSNP:rs6570065</ul>									<li>rs6570065</li><li>rs7744845</li>	2
Q70J99	201294	<ul><li>A->T at 59: in dbSNP:rs9904366<li>H->Q at 858: in dbSNP:rs17496835<li>K->E at 867: in dbSNP:rs1135688</ul>									<li>rs1135688</li><li>rs9904366</li><li>rs17496835</li>	2
Q70JA7	337876	<ul><li>G->E at 615: in dbSNP:rs10068403<li>D->G at 764: in dbSNP:rs2015018</ul>									<li>rs10068403</li><li>rs2015018</li>	2
Q70UQ0	121457	<ul><li>G->S at 265: in dbSNP:rs1048906</ul>									rs1048906	2
Q70YC4	22891	<ul><li>T->A at 62: in dbSNP:rs7076156</ul>									rs7076156	2
Q70YC5		<ul><li>S->A at 337: in dbSNP:rs3758490</ul>									rs3758490	2
Q70Z35	80243	<ul><li>D->N at 312: in dbSNP:rs11784582<li>V->I at 537: in a colorectal cancer sample; somatic mutation<li>A->E at 1571: in a colorectal cancer sample; somatic mutation</ul>									rs11784582	2
Q70Z44	200909	<ul><li>A->G at 171: in dbSNP:rs6443930<li>R->H at 225: in dbSNP:rs1000952<li>R->H at 435: in dbSNP:rs6789754</ul>									<li>rs6789754</li><li>rs1000952</li><li>rs6443930</li>	2
Q70Z53	118924	<ul><li>H->R at 16: in dbSNP:rs726817<li>R->T at 78: in dbSNP:rs2275438</ul>									<li>rs726817</li><li>rs2275438</li>	2
Q711Q0	118461	<ul><li>N->K at 208: in dbSNP:rs4838383<li>H->Q at 666: in dbSNP:rs10857469</ul>									<li>rs4838383</li><li>rs10857469</li>	2
Q719H9	284252	<ul><li>L->W at 107: in dbSNP:rs491684</ul>									rs491684	2
Q719I0	130872	<ul><li>M->T at 248: in a breast cancer sample; somatic mutation</ul>										2
Q71F23	79682	<ul><li>G->R at 16: in dbSNP:rs902174<li>G->S at 16: in dbSNP:rs902174<li>I->T at 157: in dbSNP:rs6552804<li>I->M at 214: in dbSNP:rs4616798<li>A->T at 279: in dbSNP:rs34007339</ul>									<li>rs6552804</li><li>rs34007339</li><li>rs4616798</li><li>rs902174</li>	2
Q71F56	23389	<ul><li>E->G at 251: in DTGA: in dbSNP rsrs28940309, MIM: 608808<li>R->H at 1872: in DTGA: in dbSNP rsrs28940310, MIM: 608808<li>D->G at 2023: in DTGA, MIM: 608808</ul>								Transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]	<li>rs28940309</li><li>rs28940310</li>	2
Q71H61	387597	<ul><li>V->I at 202: in dbSNP:rs33958744</ul>									rs33958744	2
Q71RG4	79089	<ul><li>R->H at 228: in dbSNP:rs9895154</ul>									rs9895154	2
Q71RS6	283652	<ul><li>T->A at 111: associated with SHEP4; dbSNP:rs1426654</ul>									rs1426654	2
Q71U36	7846	<ul><li>I->L at 188: in LIS3, MIM: 611603<li>P->T at 263: in LIS3, MIM: 611603<li>R->C at 264: in LIS3, MIM: 611603<li>L->F at 286: in LIS3, MIM: 611603<li>R->C at 402: in LIS3, MIM: 611603<li>R->H at 402: in LIS3, MIM: 611603<li>S->L at 419: in LIS3, MIM: 611603<li>E->K at 447: in dbSNP:rs1065730, MIM: 611603</ul>								Lissencephaly type 3 (LIS3) [MIM:611603]	rs1065730	2
Q75LS8		<ul><li>V->G at 125: in dbSNP:rs11524166</ul>									rs11524166	2
Q75N90	84467	<ul><li>G->A at 119: in dbSNP:rs3813773<li>R->Q at 473: in dbSNP rsrs35277492<li>N->D at 662: in dbSNP:rs4804271<li>R->L at 935<li>V->F at 938<li>R->W at 1083: in dbSNP rsrs35579498<li>S->N at 1293: in dbSNP:rs4804063<li>V->I at 1326: in dbSNP rsrs12975322<li>S->G at 1614: in dbSNP rsrs33967815<li>R->Q at 1806: in dbSNP:rs3829817<li>N->K at 1869: in dbSNP:rs12150963<li>L->P at 1904: in dbSNP:rs12608849<li>P->H at 1958: in dbSNP:rs7245429<li>D->E at 2610: in dbSNP:rs7257948</ul>									<li>rs7257948</li><li>rs7245429</li><li>rs33967815</li><li>rs35579498</li><li>rs35277492</li><li>rs12608849</li><li>rs4804271</li><li>rs12150963</li><li>rs3829817</li><li>rs12975322</li><li>rs4804063</li><li>rs3813773</li>	2
Q75V66	203859	<ul><li>L->F at 322: in dbSNP:rs7481951<li>C->G at 356: in GDD; decreases cell adhesion and changes cell morphology to a round shape, MIM: 166260<li>C->R at 356: in GDD; decreases cell adhesion and changes cell morphology to a round shape, MIM: 166260<li>N->K at 882: in dbSNP:rs34969327, MIM: 166260</ul>	cell adhesion	GO:0007155						Gnathodiaphyseal dysplasia (GDD) [MIM:166260]	<li>rs7481951</li><li>rs34969327</li>	2
Q75WM6	341567	<ul><li>R->G at 84: in a Japanese man; dbSNP:rs2732441<li>L->P at 108: in a Japanese man<li>R->S at 136: in a Japanese man<li>R->Q at 174: in a Japanese man; dbSNP:rs1471997<li>R->Q at 195: in dbSNP:rs1471997<li>S->F at 237: in a Japanese man; dbSNP:rs2291483</ul>									<li>rs2291483</li><li>rs2732441</li><li>rs1471997</li>	2
Q765I0	257313	<ul><li>S->I at 21: in dbSNP:rs6788319</ul>									rs6788319	2
Q76EJ3	11046	<ul><li>A->S at 184: in dbSNP:rs1051763</ul>									rs1051763	2
Q76FK4	55035	<ul><li>V->L at 748: in dbSNP:rs2236344<li>D->E at 841: in dbSNP:rs15717<li>E->D at 988: in dbSNP:rs34224798<li>G->S at 1021: in dbSNP:rs921122</ul>									<li>rs34224798</li><li>rs921122</li><li>rs15717</li><li>rs2236344</li>	2
Q76G19	57595	<ul><li>R->C at 39: in a breast cancer sample; somatic mutation</ul>										2
Q76I76	85464	<ul><li>S->L at 743: in dbSNP:rs2289629<li>V->A at 763: in dbSNP:rs6505140<li>H->Q at 1300: in dbSNP:rs8080046</ul>									<li>rs8080046</li><li>rs2289629</li><li>rs6505140</li>	2
Q76L83	55252	<ul><li>L->P at 731: in dbSNP:rs13385963<li>A->V at 796: in dbSNP:rs17854251<li>T->P at 1210: in dbSNP:rs12991178<li>T->P at 1242: in dbSNP:rs12990978</ul>									<li>rs17854251</li><li>rs12991178</li><li>rs13385963</li><li>rs12990978</li>	2
Q76LX8	11093	<ul><li>R->W at 7: does not affect protein secretion; dbSNP:rs34024143<li>V->M at 88: in TTP; reduces protein secretion and proteolytic activity, MIM: 274150<li>H->D at 96: in TTP, MIM: 274150<li>R->C at 102: in TTP, MIM: 274150<li>R->W at 193: in TTP; low activity, MIM: 274150<li>T->I at 196: in TTP, MIM: 274150<li>H->Q at 234: in TTP, MIM: 274150<li>A->V at 250: in TTP; mild effect on protein secretion; strong reduction of proteolytic activity, MIM: 274150<li>R->P at 268: in TTP; affects protein secretion, MIM: 274150<li>W->C at 390: in TTP, MIM: 274150<li>R->H at 398: in TTP, MIM: 274150<li>Q->E at 448: does not affect protein secretion; normal proteolytic activity; dbSNP:rs2301612, MIM: 274150<li>Q->H at 456: in dbSNP:rs36220239, MIM: 274150<li>P->L at 457: in dbSNP rsrs36220240, MIM: 274150<li>P->S at 475: may be a risk factor for thrombotic disorders; does not affect protein secretion; low proteolytic activity: in dbSNP rsrs11575933, MIM: 274150<li>C->Y at 508: in TTP; impairs protein secretion, MIM: 274150<li>R->G at 528: in TTP, MIM: 274150<li>P->A at 618: affects protein secretion and proteolytic activity: in dbSNP rsrs28647808, MIM: 274150<li>R->H at 625: in dbSNP:rs36090624, MIM: 274150<li>I->F at 673: in TTP; impairs protein secretion, MIM: 274150<li>R->C at 692: in TTP, MIM: 274150<li>A->V at 732: minor effects on protein secretion: in dbSNP rsrs41314453, MIM: 274150<li>E->K at 740: in dbSNP:rs36221451, MIM: 274150<li>A->V at 900: in dbSNP:rs685523, MIM: 274150<li>S->L at 903: in a patient with thrombotic thrombocytopenic purpura; probable polymorphism, MIM: 274150<li>C->Y at 908: in TTP; impairs protein secretion, MIM: 274150<li>C->G at 951: in TTP, MIM: 274150<li>G->R at 982: in dbSNP rsrs36222275, MIM: 274150<li>C->G at 1024: in TTP, MIM: 274150<li>A->T at 1033: in dbSNP:rs28503257, MIM: 274150<li>R->W at 1095: in a patient with thrombotic thrombocytopenic purpura, MIM: 274150<li>R->C at 1123: in TTP; impairs protein secretion, MIM: 274150<li>C->Y at 1213: in TTP, MIM: 274150<li>T->I at 1226: in dbSNP rsrs36222894, MIM: 274150<li>G->V at 1239: in TTP; impairs protein secretion, MIM: 274150<li>R->W at 1336: in TTP; impairs protein secretion and proteolytic activity, MIM: 274150</ul>	protein secretion	GO:0009306					<li>Q6S9E0</li><li>P26651</li><li>P53781</li><li>P22893</li><li>P47973</li>	Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]	<li>rs2301612</li><li>rs28647808</li><li>rs36222894</li><li>rs36222275</li><li>rs34024143</li><li>rs36220239</li><li>rs685523</li><li>rs41314453</li><li>rs36220240</li><li>rs36221451</li><li>rs28503257</li><li>rs11575933</li><li>rs36090624</li>	2
Q76MJ5	10595	<ul><li>V->I at 69<li>R->C at 118<li>R->C at 184<li>Q->R at 271<li>A->T at 318<li>L->F at 410<li>T->S at 487<li>L->F at 504<li>R->Q at 537<li>H->Y at 858</ul>										2
Q76N32	23177	<ul><li>R->G at 27: in dbSNP:rs12611491<li>G->S at 74: in dbSNP:rs7572857<li>L->P at 397: in dbSNP:rs35501092<li>R->C at 462: in dbSNP:rs35694840<li>E->Q at 473: in dbSNP:rs35089924</ul>									<li>rs35501092</li><li>rs35694840</li><li>rs12611491</li><li>rs7572857</li><li>rs35089924</li>	2
Q76NI1	85442	<ul><li>E->G at 436: in dbSNP:rs3810964<li>G->S at 581: in dbSNP:rs35152544<li>L->P at 717: in dbSNP:rs2998139<li>A->T at 1332: in dbSNP:rs11101642</ul>									<li>rs35152544</li><li>rs3810964</li><li>rs11101642</li><li>rs2998139</li>	2
Q7KYR7	11120	<ul><li>R->C at 124: in dbSNP:rs3734539<li>V->M at 207: in dbSNP:rs13195509<li>R->Q at 378: in dbSNP:rs3734542<li>G->A at 451: in dbSNP:rs3734543</ul>									<li>rs13195509</li><li>rs3734543</li><li>rs3734542</li><li>rs3734539</li>	2
Q7KZN9	1355	<ul><li>R->W at 217: in COX deficiency and Leigh syndrome: in dbSNP rsrs28939711, MIM: 256000<li>S->P at 344: in Leigh syndrome, MIM: 256000</ul>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	<li>Leigh syndrome [MIM:256000]</li><li>Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]</li>	rs28939711	2
Q7L014	9879	<ul><li>E->Q at 207: in dbSNP:rs10447293</ul>									rs10447293	2
Q7L0Q8	58480	<ul><li>T->A at 121: in dbSNP:rs3820264</ul>									rs3820264	2
Q7L0X0	9865	<ul><li>S->N at 240: in dbSNP:rs740250<li>A->T at 347: in dbSNP:rs3735561<li>G->D at 369: in dbSNP:rs3735562</ul>									<li>rs740250</li><li>rs3735561</li><li>rs3735562</li>	2
Q7L0X2	131831	<ul><li>G->V at 9: in dbSNP:rs16862795<li>G->R at 433: in dbSNP:rs11919896</ul>									<li>rs11919896</li><li>rs16862795</li>	2
Q7L1T6	51167	<ul><li>R->H at 140<li>Q->R at 187<li>H->R at 223<li>P->A at 267: in dbSNP rsrs61382555<li>S->P at 282: in dbSNP:rs10080628<li>P->S at 316: in dbSNP:rs10080628<li>D->Y at 371: in a breast cancer sample; somatic mutation<li>L->M at 390: in a breast cancer sample; somatic mutation</ul>									<li>rs61382555</li><li>rs10080628</li>	2
Q7L1W4	55144	<ul><li>S->Y at 371: in dbSNP:rs11552246</ul>									rs11552246	2
Q7L2H7	10480	<ul><li>G->R at 37: in dbSNP:rs11557143<li>E->G at 80: in a breast cancer sample; somatic mutation<li>Q->R at 346: in dbSNP:rs1802363</ul>									<li>rs1802363</li><li>rs11557143</li>	2
Q7L2K0	80178	<ul><li>R->K at 346: in dbSNP:rs34948268</ul>									rs34948268	2
Q7L2R6	91661	<ul><li>S->G at 389: in dbSNP:rs10425136</ul>									rs10425136	2
Q7L2Z9	55166	<ul><li>G->R at 63: in dbSNP:rs4267943<li>D->G at 266: in dbSNP:rs2501968</ul>									<li>rs4267943</li><li>rs2501968</li>	2
Q7L3B6	55664	<ul><li>S->F at 291: in dbSNP:rs7036014</ul>									rs7036014	2
Q7L3S4	51333	<ul><li>D->N at 207: in dbSNP:rs17852362</ul>									rs17852362	2
Q7L3T8	25973	<ul><li>R->S at 28: in dbSNP:rs11577368<li>N->S at 235: in dbSNP:rs2270004</ul>									<li>rs2270004</li><li>rs11577368</li>	2
Q7L3V2	79680	<ul><li>R->H at 116: in dbSNP:rs17745302<li>D->Y at 123: in dbSNP:rs34027839</ul>									<li>rs34027839</li><li>rs17745302</li>	2
Q7L4E1	84895	<ul><li>E->K at 78: in dbSNP:rs6478859<li>V->A at 100: in dbSNP:rs16930845<li>G->S at 212: in dbSNP:rs17452596</ul>									<li>rs17452596</li><li>rs16930845</li><li>rs6478859</li>	2
Q7L4I2	65117	<ul><li>H->R at 88: in dbSNP:rs17886684</ul>									rs17886684	2
Q7L513	84824	<ul><li>R->Q at 349: in dbSNP:rs11746</ul>									rs11746	2
Q7L576	23191	<ul><li>A->P at 532: in dbSNP:rs34683919<li>G->D at 820: in dbSNP:rs17137190<li>G->S at 820: in dbSNP:rs7170637</ul>									<li>rs7170637</li><li>rs17137190</li><li>rs34683919</li>	2
Q7L590	55388	<ul><li>K->R at 134: in dbSNP:rs17152897<li>A->P at 195: in dbSNP:rs34630110<li>A->V at 418: in dbSNP:rs35114749<li>T->S at 541: in dbSNP:rs7905784<li>K->R at 669: in dbSNP:rs2274110</ul>									<li>rs17152897</li><li>rs35114749</li><li>rs7905784</li><li>rs34630110</li><li>rs2274110</li>	2
Q7L592	55471	<ul><li>P->A at 39: in dbSNP:rs2714473</ul>									rs2714473	2
Q7L5A8	79152	<ul><li>D->Y at 35: in dysmyelinating leukodystrophy with spastic paraparesis<li>P->A at 97: in dbSNP:rs35874850</ul>									rs35874850	2
Q7L5N7	54947	<ul><li>M->I at 163: in dbSNP:rs837550</ul>									rs837550	2
Q7L5Y1	55556	<ul><li>D->E at 31: in dbSNP:rs34724061<li>M->T at 145: in dbSNP:rs2612086<li>Y->S at 428: in dbSNP:rs2847620</ul>									<li>rs2612086</li><li>rs34724061</li><li>rs2847620</li>	2
Q7L5Y9	10296	<ul><li>R->C at 34: in dbSNP:rs34082974</ul>									rs34082974	2
Q7L622	55632	<ul><li>R->H at 232: in dbSNP:rs17096934</ul>									rs17096934	2
Q7L775	9852	<ul><li>V->F at 333: in dbSNP:rs4647202<li>A->S at 360: in dbSNP:rs4647201</ul>									<li>rs4647202</li><li>rs4647201</li>	2
Q7L7V1	55760	<ul><li>P->R at 209: in a breast cancer sample; somatic mutation<li>E->D at 271: in dbSNP:rs11244674<li>D->A at 301: in dbSNP:rs35772239<li>V->L at 430: in dbSNP:rs17153669</ul>									<li>rs17153669</li><li>rs35772239</li><li>rs11244674</li>	2
Q7L7X3	57551	<ul><li>A->T at 855: in dbSNP:rs34151057</ul>									rs34151057	2
Q7L804	22841	<ul><li>F->V at 152: in dbSNP:rs34028100</ul>									rs34028100	2
Q7L8L6	60493	<ul><li>R->C at 256: in dbSNP:rs3746700<li>I->T at 288: in dbSNP:rs2422857<li>I->V at 377: in dbSNP:rs3746699</ul>									<li>rs3746700</li><li>rs3746699</li><li>rs2422857</li>	2
Q7L8W6	89978	<ul><li>G->E at 41: in dbSNP:rs34907758<li>R->P at 236: in dbSNP:rs10519996</ul>									<li>rs10519996</li><li>rs34907758</li>	2
Q7L985	158038	<ul><li>R->H at 507: in dbSNP:rs17506843</ul>									rs17506843	2
Q7LBC6	51780	<ul><li>T->A at 256: in dbSNP:rs6865472<li>S->N at 1201: in dbSNP:rs7706614</ul>									<li>rs6865472</li><li>rs7706614</li>	2
Q7LBE3	115019	<ul><li>V->M at 744: in dbSNP:rs3811428<li>H->R at 748: in dbSNP:rs16856462</ul>									<li>rs3811428</li><li>rs16856462</li>	2
Q7LDG7	10235	<ul><li>G->A at 493: in dbSNP:rs2301562</ul>									rs2301562	2
Q7LG56	50484	<ul><li>W->R at 64: in EMDSRT, MIM: 612075<li>Missing  at 85: in EMDSRT, MIM: 612075<li>V->L at 115: in colorectal adenocarcinomas cell line; loss of ribonucleotide reductase activity, MIM: 612075<li>E->G at 194: in EMDSRT, MIM: 612075<li>E->K at 194: in EMDSRT, MIM: 612075<li>I->S at 224: in EMDSRT; without tubulopathy, MIM: 612075<li>C->F at 236: in EMDSRT, MIM: 612075<li>M->I at 282: in EMDSRT; without tubulopathy, MIM: 612075<li>L->V at 317: in EMDSRT; without tubulopathy, MIM: 612075</ul>							<li>P57276</li><li>P32984</li><li>Q9Z6S5</li><li>Q89AS4</li><li>P08543</li><li>Q7T6Y8</li><li>P42491</li><li>P32282</li><li>P09248</li><li>O83972</li><li>O84834</li><li>Q01037</li><li>P43754</li><li>P78027</li><li>P36602</li><li>P74240</li><li>P28846</li><li>P47473</li><li>P03190</li><li>P16782</li><li>P55982</li><li>P50620</li><li>P50646</li><li>P50643</li><li>Q9PL93</li><li>Q8SR37</li><li>P50641</li><li>P20503</li><li>P50642</li><li>P52343</li><li>Q8K9W3</li><li>Q76RD8</li><li>P11156</li><li>P26685</li><li>O66503</li><li>Q9ZLF9</li><li>P12848</li><li>P09853</li>	Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]		2
Q7LGC8	9469	<ul><li>R->W at 222: in SED Omani type; severely impairs or abolishes the enzyme function, MIM: 608637<li>L->P at 259: in SED Omani type; severely impairs or abolishes the enzyme function, MIM: 608637<li>R->Q at 304: in SED Omani type; reduced enzyme activity; dbSNP:rs28937593, MIM: 608637<li>L->P at 307: in HSD, MIM: 143095<li>I->M at 348: in dbSNP:rs3740128, MIM: 143095<li>R->Q at 357: in dbSNP:rs3740129, MIM: 143095<li>E->K at 372: in SED Omani type, MIM: 608637</ul>							P20723	<li>Humerospinal dysostosis (HSD) [MIM:143095]</li><li>Spondyloepiphyseal dysplasia Omani type (SED Omani type) [MIM:608637]</li>	<li>rs28937593</li><li>rs3740129</li><li>rs3740128</li>	2
Q7RTM1	133060	<ul><li>I->V at 241: in dbSNP:rs28394859<li>D->E at 309: in dbSNP:rs2916414<li>V->M at 434: in dbSNP:rs11736799<li>K->T at 493: in dbSNP:rs34666677<li>Q->H at 516: in dbSNP:rs35106142</ul>									<li>rs34666677</li><li>rs2916414</li><li>rs28394859</li><li>rs11736799</li><li>rs35106142</li>	2
Q7RTN6	92335	<ul><li>R->W at 13: in dbSNP rsrs35808156<li>S->I at 60: in dbSNP rsrs56271007<li>P->S at 64: in dbSNP rsrs55695051</ul>									<li>rs56271007</li><li>rs35808156</li><li>rs55695051</li>	2
Q7RTP0	123606	<ul><li>T->R at 45: in SPG6, MIM: 600363<li>G->R at 106: in SPG6, MIM: 600363</ul>								Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]		2
Q7RTP6	57553	<ul><li>M->L at 778: in dbSNP:rs5992128</ul>									rs5992128	2
Q7RTR0	338321	<ul><li>G->D at 425: in a breast cancer sample; somatic mutation</ul>										2
Q7RTR2	197358	<ul><li>V->M at 567: in dbSNP:rs8057436</ul>									rs8057436	2
Q7RTR8	353164	<ul><li>F->S at 196: in dbSNP:rs5020531<li>Y->C at 265: in dbSNP:rs1451772</ul>									<li>rs5020531</li><li>rs1451772</li>	2
Q7RTS3	256297	<ul><li>S->P at 263: in dbSNP:rs7918487</ul>									rs7918487	2
Q7RTS5	347741	<ul><li>R->Q at 64: in dbSNP:rs7210616<li>R->Q at 146: in dbSNP:rs9890664<li>S->P at 199: in dbSNP:rs1542752</ul>									<li>rs9890664</li><li>rs7210616</li><li>rs1542752</li>	2
Q7RTS6	92736	<ul><li>A->V at 392: in a colorectal cancer sample; somatic mutation<li>G->W at 465: in dbSNP:rs6501741</ul>									rs6501741	2
Q7RTS7	121391	<ul><li>N->K at 165: in dbSNP:rs11170177<li>L->Q at 178: in dbSNP:rs11170176<li>E->D at 271: in dbSNP:rs670741</ul>									<li>rs670741</li><li>rs11170176</li><li>rs11170177</li>	2
Q7RTS9	54808	<ul><li>E->K at 87: in SMC; does not affect protein localization, MIM: 607326<li>N->Y at 469: in DMC; results in protein mis-localization and aggregation, MIM: 223800</ul>	<li>protein localization</li><li>localization</li>	<li>GO:0008104</li><li>GO:0051179</li>						<li>Smith-McCort dysplasia (SMC) [MIM:607326]</li><li>Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]</li>		2
Q7RTT3	280660	<ul><li>C->R at 72: in dbSNP:rs4598385</ul>									rs4598385	2
Q7RTT5	280658	<ul><li>L->S at 43: in dbSNP:rs3122210</ul>									rs3122210	2
Q7RTT6	280657	<ul><li>R->C at 90: in dbSNP:rs5952474<li>K->Q at 138: in dbSNP:rs17327911</ul>									<li>rs5952474</li><li>rs17327911</li>	2
Q7RTT9	222962	<ul><li>V->E at 79: in dbSNP:rs17854505<li>N->K at 124: in dbSNP:rs17855675<li>P->T at 429: in dbSNP:rs17857336</ul>									<li>rs17857336</li><li>rs17854505</li><li>rs17855675</li>	2
Q7RTU1	150921	<ul><li>R->Q at 25: in dbSNP:rs11126879<li>T->S at 40: in dbSNP:rs4502371</ul>									<li>rs11126879</li><li>rs4502371</li>	2
Q7RTU9	161497	<ul><li>L->F at 1640: in dbSNP:rs2920791</ul>									rs2920791	2
Q7RTV2	221357	<ul><li>V->I at 55: in dbSNP:rs2397118</ul>									rs2397118	2
Q7RTV5	195827	<ul><li>R->K at 83: in dbSNP:rs9886834</ul>									rs9886834	2
Q7RTX0	83756	<ul><li>C->R at 757: in dbSNP:rs307377</ul>									rs307377	2
Q7RTX1	80835	<ul><li>K->E at 347: in dbSNP:rs10864628<li>A->T at 372: in dbSNP:rs34160967<li>R->Q at 507: in dbSNP:rs35118458</ul>									<li>rs35118458</li><li>rs10864628</li><li>rs34160967</li>	2
Q7RTX7	378807	<ul><li>Q->R at 77: in dbSNP:rs11247866<li>L->F at 124: in dbSNP:rs12138368<li>I->V at 293: in dbSNP:rs17257155<li>D->N at 436: in dbSNP:rs6657616</ul>									<li>rs6657616</li><li>rs12138368</li><li>rs17257155</li><li>rs11247866</li>	2
Q7RTY1	220963	<ul><li>T->K at 258: in dbSNP:rs2242206<li>D->E at 461: in dbSNP:rs11006655</ul>									<li>rs2242206</li><li>rs11006655</li>	2
Q7RTY5	345062	<ul><li>C->Y at 65: in dbSNP:rs36097019<li>L->S at 130: in dbSNP:rs17027505<li>R->C at 298: in dbSNP:rs13126069</ul>									<li>rs36097019</li><li>rs13126069</li><li>rs17027505</li>	2
Q7RTY7	341350	<ul><li>R->C at 133: in dbSNP:rs10843438<li>W->G at 228: in dbSNP:rs967181<li>K->E at 330: in dbSNP:rs3847680<li>I->T at 444: in dbSNP:rs7975356<li>S->F at 672: in dbSNP:rs11050243<li>G->R at 754: in dbSNP:rs12305672<li>P->A at 881: in dbSNP:rs1347570<li>P->S at 934: in dbSNP:rs7967676</ul>									<li>rs7975356</li><li>rs12305672</li><li>rs967181</li><li>rs10843438</li><li>rs7967676</li><li>rs1347570</li><li>rs11050243</li><li>rs3847680</li>	2
Q7RTZ1		<ul><li>R->Q at 19: in dbSNP:rs7927138<li>P->S at 292: in dbSNP:rs10839849<li>G->E at 381: in dbSNP:rs3925028<li>N->T at 410: in dbSNP:rs4528317<li>R->G at 413: in dbSNP:rs3925027<li>H->Q at 526: in dbSNP:rs4519083<li>T->I at 539: in dbSNP:rs4633461</ul>									<li>rs3925028</li><li>rs4633461</li><li>rs4519083</li><li>rs3925027</li><li>rs7927138</li><li>rs10839849</li><li>rs4528317</li>	2
Q7Z2D5	9890	<ul><li>Q->K at 2: in dbSNP:rs712896<li>A->V at 32: in dbSNP:rs35285687</ul>									<li>rs712896</li><li>rs35285687</li>	2
Q7Z2E3	54840	<ul><li>K->Q at 211: in AOA; it probably does not greatly affect the protein; heterozygous, MIM: 208920<li>A->V at 212: in AOA; heterozygous, MIM: 208920<li>R->H at 213: in AOA, MIM: 208920<li>H->R at 215: in AOA, MIM: 208920<li>P->L at 220: in AOA, MIM: 208920<li>L->P at 237: in AOA, MIM: 208920<li>V->G at 277: in AOA; abolishes DNA-binding and enzymatic activity towards Ap, MIM: 208920<li>D->G at 281: in AOA; heterozygous, MIM: 208920<li>W->R at 293: in AOA; heterozygous, MIM: 208920</ul>			DNA-binding	GO:0003677				Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]		2
Q7Z2G1	158983	<ul><li>R->W at 87: in dbSNP:rs17332043<li>R->H at 123: in dbSNP:rs553509</ul>									<li>rs17332043</li><li>rs553509</li>	2
Q7Z2H8	206358	<ul><li>F->L at 362: in dbSNP:rs9687945</ul>									rs9687945	2
Q7Z2K6	79956	<ul><li>S->N at 44: in dbSNP:rs13284203</ul>									rs13284203	2
Q7Z2W4	56829	<ul><li>R->K at 485: in dbSNP:rs2236426<li>H->Q at 565: in dbSNP:rs2297241<li>Q->E at 701: in dbSNP:rs2297236<li>T->I at 851: in dbSNP:rs3735007</ul>									<li>rs2236426</li><li>rs2297236</li><li>rs2297241</li><li>rs3735007</li>	2
Q7Z2W7	79054	<ul><li>R->T at 247: in dbSNP:rs13004520<li>Y->C at 251: in dbSNP:rs17868387<li>M->T at 462: in dbSNP:rs28902173<li>T->I at 732: in dbSNP:rs17862932<li>N->S at 821: in dbSNP:rs28902201</ul>									<li>rs17862932</li><li>rs28902201</li><li>rs17868387</li><li>rs28902173</li><li>rs13004520</li>	2
Q7Z2X4	55022	<ul><li>T->THFQTMLKSKLN at 43: in variant with duplicated exon 2</ul>										2
Q7Z2X7	203569	<ul><li>L->V at 5: in dbSNP:rs1845444</ul>									rs1845444	2
Q7Z2Y5	203447	<ul><li>Q->H at 355: in dbSNP rsrs55862725<li>V->M at 358: in dbSNP:rs209373<li>S->C at 424: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>P->A at 426: in dbSNP rsrs55635933<li>E->G at 579: in dbSNP rsrs56350428<li>E->G at 679: in dbSNP rsrs35115195<li>R->H at 727: in dbSNP:rs33936206<li>I->L at 880: in a colorectal adenocarcinoma sample; somatic mutation<li>D->G at 971: in dbSNP:rs35334892<li>A->E at 993: in dbSNP:rs16984889<li>P->S at 1106: in dbSNP rsrs35393519<li>A->P at 1121: in dbSNP:rs35720774<li>H->L at 1276: in dbSNP rsrs35942881<li>G->A at 1471<li>M->L at 1472</ul>									<li>rs35942881</li><li>rs209373</li><li>rs55862725</li><li>rs16984889</li><li>rs35393519</li><li>rs35115195</li><li>rs33936206</li><li>rs56350428</li><li>rs35334892</li><li>rs55635933</li><li>rs35720774</li>	2
Q7Z2Z1	90381	<ul><li>R->C at 287: in dbSNP:rs10775247<li>R->W at 402: in dbSNP:rs11629584<li>R->C at 628: in dbSNP:rs3743372<li>V->A at 747: in dbSNP:rs12905387<li>S->C at 923: in dbSNP:rs16943377<li>R->C at 1523: in dbSNP:rs894157<li>S->T at 1718: in dbSNP:rs1866928<li>R->C at 1885: in dbSNP:rs3743372</ul>									<li>rs12905387</li><li>rs894157</li><li>rs10775247</li><li>rs16943377</li><li>rs11629584</li><li>rs1866928</li><li>rs3743372</li>	2
Q7Z2Z2	79631	<ul><li>E->D at 478: in dbSNP:rs2292189<li>I->V at 617: in dbSNP:rs1128431<li>K->R at 711: in dbSNP:rs2292071</ul>									<li>rs1128431</li><li>rs2292071</li><li>rs2292189</li>	2
Q7Z304	256691	<ul><li>N->S at 294: in dbSNP:rs1998972</ul>									rs1998972	2
Q7Z333	23064	<ul><li>T->I at 3: in ALS4; heterozygous: in dbSNP rsrs28941475, MIM: 602433<li>M->I at 274: in SCAR1, MIM: 606002<li>W->C at 305: in SCAR1, MIM: 606002<li>R->W at 332: in SCAR1: in dbSNP rsrs29001665, MIM: 606002<li>L->S at 389: in ALS4: in dbSNP rsrs29001584, MIM: 602433<li>P->L at 413: in SCAR1, MIM: 606002<li>N->D at 603: in SCAR1; atypical; associated with K-653, MIM: 606002<li>Q->K at 653: in SCAR1; atypical; associated with D-603, MIM: 606002<li>A->G at 660: in dbSNP:rs882709, MIM: 606002<li>P->L at 1061: in dbSNP:rs12352982, MIM: 606002<li>F->C at 1152: in dbSNP:rs3739922, MIM: 606002<li>E->D at 1192: in dbSNP:rs1185193, MIM: 606002<li>R->G at 1252: in dbSNP:rs1183768, MIM: 606002<li>R->C at 1294: in SCAR1, MIM: 606002<li>P->L at 1331: in dbSNP:rs11243731, MIM: 606002<li>V->I at 1386: in dbSNP:rs543573, MIM: 606002<li>F->S at 1756: in SCAR1; heterozygous in a British family, MIM: 606002<li>T->A at 1855: in dbSNP:rs2296871, MIM: 606002<li>R->H at 2136: in ALS4, MIM: 602433<li>P->L at 2213: in SCAR1: in dbSNP rsrs28940290, MIM: 606002<li>P->R at 2368: in SCAR1, MIM: 606002<li>I->V at 2587: in dbSNP:rs1056899, MIM: 606002<li>S->G at 2612: in dbSNP:rs3739927, MIM: 606002</ul>							<li>Q92558</li><li>Q6AWX6</li><li>O74660</li><li>Q7Z333</li>	<li>Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]</li><li>Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]</li>	<li>rs882709</li><li>rs11243731</li><li>rs1183768</li><li>rs543573</li><li>rs29001584</li><li>rs3739927</li><li>rs28941475</li><li>rs2296871</li><li>rs29001665</li><li>rs12352982</li><li>rs1185193</li><li>rs3739922</li><li>rs28940290</li><li>rs1056899</li>	2
Q7Z340	90233	<ul><li>N->S at 218: in dbSNP:rs10413864<li>R->W at 550: in dbSNP:rs12611105</ul>									<li>rs10413864</li><li>rs12611105</li>	2
Q7Z353	139324	<ul><li>A->T at 193: in dbSNP:rs35653454<li>F->S at 397: in dbSNP:rs35161124</ul>									<li>rs35653454</li><li>rs35161124</li>	2
Q7Z398		<ul><li>I->T at 359: in dbSNP:rs1548476</ul>									rs1548476	2
Q7Z3B0	643155	<ul><li>L->F at 23: in dbSNP:rs4546328</ul>									rs4546328	2
Q7Z3B3	284058	<ul><li>K->T at 104: in dbSNP:rs17585974<li>T->I at 221: in dbSNP:rs17662853<li>N->D at 225: in dbSNP:rs35643216<li>S->P at 718: in dbSNP:rs34043286<li>P->L at 1010: in dbSNP:rs7220988<li>I->T at 1085: in dbSNP:rs34579536</ul>									<li>rs7220988</li><li>rs35643216</li><li>rs34579536</li><li>rs17585974</li><li>rs34043286</li><li>rs17662853</li>	2
Q7Z3C6	79065	<ul><li>S->G at 592: in dbSNP:rs2276635</ul>									rs2276635	2
Q7Z3D6	80017	<ul><li>R->C at 10: in dbSNP:rs10142502<li>S->N at 237: in dbSNP:rs34302825<li>A->T at 372: in dbSNP:rs12895348<li>D->N at 502: in dbSNP:rs2295524<li>D->N at 507: in dbSNP:rs34523602<li>G->D at 583: in dbSNP:rs34748911</ul>									<li>rs12895348</li><li>rs2295524</li><li>rs34302825</li><li>rs34523602</li><li>rs34748911</li><li>rs10142502</li>	2
Q7Z3E1	25976	<ul><li>R->S at 406: in dbSNP:rs17854621</ul>									rs17854621	2
Q7Z3E2	55088	<ul><li>T->I at 85: in dbSNP:rs1061159<li>R->Q at 179: in dbSNP:rs12782946<li>Q->K at 271: in dbSNP:rs7095762</ul>									<li>rs1061159</li><li>rs12782946</li><li>rs7095762</li>	2
Q7Z3E5	80210	<ul><li>L->F at 108: in dbSNP:rs11558175<li>I->T at 209: in dbSNP:rs16827883<li>R->H at 222: in dbSNP:rs3752780</ul>									<li>rs11558175</li><li>rs16827883</li><li>rs3752780</li>	2
Q7Z3H4	344658	<ul><li>E->D at 220: in dbSNP:rs10513680</ul>									rs10513680	2
Q7Z3I7	137209	<ul><li>K->T at 317: in dbSNP:rs10104558<li>G->E at 380: in dbSNP:rs10105106<li>S->C at 448: in dbSNP:rs10107774<li>V->I at 500: in dbSNP:rs7825375<li>C->F at 512: in a colorectal cancer sample; somatic mutation</ul>									<li>rs10105106</li><li>rs10104558</li><li>rs7825375</li><li>rs10107774</li>	2
Q7Z3J2	57020	<ul><li>Y->C at 32: in dbSNP:rs17854969<li>N->I at 186: in dbSNP:rs7206637<li>A->V at 506: in dbSNP:rs17854970</ul>									<li>rs7206637</li><li>rs17854970</li><li>rs17854969</li>	2
Q7Z3K3	23126	<ul><li>E->D at 1365: in dbSNP:rs35198305</ul>									rs35198305	2
Q7Z3K6	166968	<ul><li>D->G at 126: in dbSNP:rs17854108<li>N->K at 414: in dbSNP:rs13177917<li>N->D at 432: in dbSNP:rs13181823<li>N->S at 530: in dbSNP:rs36017815</ul>									<li>rs36017815</li><li>rs13181823</li><li>rs13177917</li><li>rs17854108</li>	2
Q7Z3S7	93589	<ul><li>V->I at 327: in dbSNP:rs10735005<li>R->H at 863: in dbSNP:rs36077411<li>T->M at 869: in dbSNP:rs35331095</ul>									<li>rs36077411</li><li>rs10735005</li><li>rs35331095</li>	2
Q7Z3S9	388677	<ul><li>S->P at 67: in dbSNP:rs10910779<li>T->I at 158: in dbSNP:rs8002<li>T->S at 196: in dbSNP:rs4649852<li>E->Q at 226: in dbSNP:rs1053710</ul>									<li>rs10910779</li><li>rs1053710</li><li>rs4649852</li><li>rs8002</li>	2
Q7Z3T1	343171	<ul><li>C->S at 169: in dbSNP:rs12083024<li>R->C at 179: in dbSNP:rs10888267<li>V->I at 190: in dbSNP:rs12135078<li>E->D at 196: in dbSNP:rs12139390<li>M->K at 272: in dbSNP:rs11204545<li>M->T at 275: in dbSNP:rs11204546</ul>									<li>rs12139390</li><li>rs10888267</li><li>rs12135078</li><li>rs11204545</li><li>rs12083024</li><li>rs11204546</li>	2
Q7Z3T8	9765	<ul><li>T->I at 192: in dbSNP:rs2544600<li>T->I at 598: in dbSNP:rs259028<li>G->S at 1055: in dbSNP:rs249038</ul>									<li>rs249038</li><li>rs259028</li><li>rs2544600</li>	2
Q7Z3U7	23041	<ul><li>A->T at 548: in dbSNP:rs10219555</ul>									rs10219555	2
Q7Z3V4	89910	<ul><li>Q->R at 346: in dbSNP:rs7298565</ul>									rs7298565	2
Q7Z3V5	51276	<ul><li>K->M at 170: in dbSNP:rs16973893<li>Q->H at 189: in dbSNP:rs8111790<li>E->D at 252: in dbSNP:rs28512414<li>L->H at 573: in dbSNP:rs4802029<li>K->E at 593: in dbSNP:rs16973890</ul>									<li>rs28512414</li><li>rs4802029</li><li>rs16973890</li><li>rs16973893</li><li>rs8111790</li>	2
Q7Z3Z0	147183	<ul><li>S->L at 54: in dbSNP:rs12951399</ul>									rs12951399	2
Q7Z3Z2	343035	<ul><li>W->R at 6: in an individual with an atypical late-onset form of retinitis pigmentosa; dbSNP:rs35649846<li>E->D at 23: in an individual with an atypical late-onset form of retinitis pigmentosa; dbSNP:rs34422496<li>G->R at 35<li>R->C at 47: in dbSNP:rs34049451<li>G->V at 57: in an individual with cone-rod degeneration<li>R->W at 68<li>K->M at 130: in an individual with cone-rod dystrophy features<li>R->K at 167<li>D->V at 195</ul>									<li>rs35649846</li><li>rs34049451</li><li>rs34422496</li>	2
Q7Z3Z3	440822	<ul><li>P->S at 375: in dbSNP:rs1475853<li>C->R at 412: in dbSNP:rs1892722<li>V->M at 418: in dbSNP:rs1892723<li>V->I at 471: in dbSNP:rs11703684</ul>									<li>rs1475853</li><li>rs1892722</li><li>rs1892723</li><li>rs11703684</li>	2
Q7Z3Z4	143689	<ul><li>Q->R at 78: in dbSNP:rs12276921<li>Q->L at 327: in dbSNP:rs11020845</ul>									<li>rs11020845</li><li>rs12276921</li>	2
Q7Z401	10260	<ul><li>L->P at 284: in dbSNP:rs17854146</ul>									rs17854146	2
Q7Z402	79905	<ul><li>R->W at 59: in dbSNP:rs17854512<li>G->E at 254: in dbSNP:rs28583298<li>T->I at 635: in dbSNP:rs11864159</ul>									<li>rs28583298</li><li>rs11864159</li><li>rs17854512</li>	2
Q7Z403	11322	<ul><li>W->R at 125: in dbSNP:rs2748427<li>L->F at 153: in dbSNP:rs12449858</ul>									<li>rs12449858</li><li>rs2748427</li>	2
Q7Z404	147798	<ul><li>E->G at 17: in dbSNP:rs641738<li>Q->E at 683: in dbSNP:rs36657</ul>									<li>rs641738</li><li>rs36657</li>	2
Q7Z406	79784	<ul><li>S->L at 120: in DFNA4, MIM: 600652<li>I->V at 266, MIM: 600652<li>G->C at 376: in DFNA4, MIM: 600652<li>R->S at 726: in DFNA4: in dbSNP rsrs28940307, MIM: 600652<li>L->F at 976: in DFNA4: in dbSNP rsrs28940306, MIM: 600652<li>N->S at 1559, MIM: 600652</ul>								Non-syndromic sensorineural deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	<li>rs28940306</li><li>rs28940307</li>	2
Q7Z407	114788	<ul><li>I->M at 182: in dbSNP:rs2219898<li>W->G at 285: in a colorectal cancer sample; somatic mutation<li>V->L at 2963: in dbSNP:rs2193430<li>R->H at 3042: in a colorectal cancer sample; somatic mutation<li>R->Q at 3322: in a colorectal cancer sample; somatic mutation<li>N->H at 3584: in dbSNP:rs1592624</ul>									<li>rs2219898</li><li>rs1592624</li><li>rs2193430</li>	2
Q7Z408	114784	<ul><li>L->P at 167: in dbSNP:rs16836099<li>H->R at 538: in dbSNP:rs474474<li>R->K at 2096: in dbSNP:rs1874045<li>A->V at 2117: in dbSNP:rs11588581<li>M->V at 2554: in dbSNP:rs2641962<li>L->R at 2661: in dbSNP:rs3820206<li>L->V at 2661: in dbSNP:rs34850622<li>S->F at 3406: in dbSNP:rs1617468</ul>									<li>rs2641962</li><li>rs474474</li><li>rs3820206</li><li>rs1874045</li><li>rs1617468</li><li>rs11588581</li><li>rs16836099</li><li>rs34850622</li>	2
Q7Z410	360200	<ul><li>T->A at 4: in dbSNP:rs8100709<li>S->T at 30: in dbSNP:rs891174<li>R->W at 73: in dbSNP:rs17685098<li>A->T at 456: in dbSNP:rs10153474<li>S->N at 793: in dbSNP:rs735911<li>E->K at 938: in dbSNP:rs7247162</ul>									<li>rs10153474</li><li>rs735911</li><li>rs7247162</li><li>rs891174</li><li>rs8100709</li><li>rs17685098</li>	2
Q7Z412	55670	<ul><li>L->P at 45: in IRD, MIM: 266510<li>G->R at 89: in ZWS: in dbSNP rsrs28940308, MIM: 214100<li>R->W at 98: in NALD; affects the interaction with PEX6, MIM: 202370<li>L->V at 153: in dbSNP:rs12484657, MIM: 202370</ul>							<li>P36966</li><li>Q6BS73</li><li>Q9UVU5</li><li>P33289</li><li>Q9C1E9</li><li>Q74Z13</li><li>Q13608</li><li>P33760</li><li>Q6FW67</li><li>Q6CPV1</li>	<li>Infantile Refsum disease (IRD) [MIM:266510]</li><li>Adrenoleukodystrophy neonatal (NALD) [MIM:202370]</li><li>Zellweger syndrome (ZWS) [MIM:214100]</li>	<li>rs28940308</li><li>rs12484657</li>	2
Q7Z418	338567	<ul><li>F->Y at 58: in dbSNP:rs3909165<li>A->G at 198: in dbSNP:rs363359<li>S->P at 231: in dbSNP:rs363315<li>A->V at 233: in dbSNP:rs363360<li>E->K at 255: in dbSNP:rs3026042<li>V->I at 346: in dbSNP:rs12247136</ul>									<li>rs363315</li><li>rs3026042</li><li>rs12247136</li><li>rs363359</li><li>rs363360</li><li>rs3909165</li>	2
Q7Z429	2907	<ul><li>S->N at 107: in dbSNP:rs17854152</ul>									rs17854152	2
Q7Z434	57506	<ul><li>C->F at 79: in dbSNP:rs11905552<li>Q->E at 93: in dbSNP:rs17857295<li>Q->K at 198: in dbSNP:rs7262903<li>S->F at 409: in dbSNP:rs7269320</ul>									<li>rs7262903</li><li>rs11905552</li><li>rs17857295</li><li>rs7269320</li>	2
Q7Z442	114780	<ul><li>V->A at 20: in dbSNP:rs9924530<li>W->R at 73: in dbSNP:rs9924371<li>N->K at 77: in dbSNP:rs9934272<li>Q->L at 120: in dbSNP:rs7191351<li>G->D at 129: in dbSNP:rs7185774<li>V->I at 156: in dbSNP:rs35528333<li>C->S at 162: in dbSNP:rs35970134<li>V->M at 169: in dbSNP:rs36099350<li>L->S at 173: in dbSNP:rs8060294<li>V->I at 183: in dbSNP:rs12933806<li>G->R at 205: in dbSNP:rs34719852<li>E->G at 221: in dbSNP:rs6564838<li>R->W at 252: in dbSNP:rs6420424<li>P->A at 301: in dbSNP:rs11150370<li>N->S at 407: in dbSNP:rs9937169<li>K->Q at 416: in dbSNP:rs7194871<li>L->V at 462: in dbSNP:rs9934856<li>P->L at 512: in dbSNP:rs7205673<li>R->H at 636: in dbSNP:rs13339342<li>P->L at 711: in dbSNP:rs4889261<li>G->C at 785: in dbSNP:rs9935113<li>R->H at 849: in dbSNP:rs1869349<li>A->V at 863: in dbSNP:rs12596941<li>L->M at 919: in dbSNP:rs745211<li>L->P at 1036: in dbSNP:rs12597040<li>M->V at 1042: in dbSNP:rs12931227</ul>									<li>rs9934272</li><li>rs13339342</li><li>rs9924371</li><li>rs7205673</li><li>rs6564838</li><li>rs12597040</li><li>rs745211</li><li>rs9934856</li><li>rs4889261</li><li>rs7194871</li><li>rs12596941</li><li>rs34719852</li><li>rs12933806</li><li>rs1869349</li><li>rs11150370</li><li>rs7185774</li><li>rs9937169</li><li>rs36099350</li><li>rs35528333</li><li>rs35970134</li><li>rs9935113</li><li>rs7191351</li><li>rs12931227</li><li>rs9924530</li><li>rs6420424</li><li>rs8060294</li>	2
Q7Z443		<ul><li>I->F at 120: in dbSNP:rs16973585<li>S->P at 211: in dbSNP:rs4788591<li>K->E at 274: in dbSNP:rs12708923<li>T->S at 429: in dbSNP:rs7185272<li>A->D at 471: in dbSNP:rs16973537<li>H->Q at 571: in dbSNP:rs1559401<li>V->M at 593: in dbSNP:rs9925415<li>V->I at 903: in dbSNP:rs9921412<li>S->R at 1176: in dbSNP:rs1035543<li>Y->C at 1474: in dbSNP:rs13335617</ul>									<li>rs12708923</li><li>rs1559401</li><li>rs9921412</li><li>rs9925415</li><li>rs7185272</li><li>rs13335617</li><li>rs1035543</li><li>rs16973537</li><li>rs4788591</li><li>rs16973585</li>	2
Q7Z460	23332	<ul><li>I->T at 233: in dbSNP:rs17761055</ul>									rs17761055	2
Q7Z465	149428	<ul><li>S->N at 65: in dbSNP:rs12068365<li>S->N at 226: in dbSNP:rs12068365</ul>									rs12068365	2
Q7Z478	54505	<ul><li>D->A at 309: in dbSNP:rs35874395<li>P->H at 630: in dbSNP:rs17854904</ul>									<li>rs17854904</li><li>rs35874395</li>	2
Q7Z494	27031	<ul><li>S->T at 360: in NPHP3, MIM: 604387<li>N->S at 386: in NPHP3, MIM: 604387<li>R->H at 397: in NPHP3, MIM: 604387<li>R->Q at 973: in RHPD, MIM: 208540<li>L->P at 1141: in NPHP3, MIM: 604387<li>A->V at 1221: in NPHP3, MIM: 604387<li>S->R at 1252: in NPHP3, MIM: 604387<li>R->C at 1305: in dbSNP:rs35485382, MIM: 604387<li>S->T at 1314: in NPHP3, MIM: 604387</ul>							Q7Z494	<li>Nephronophthisis type 3 (NPHP3) [MIM:604387]</li><li>Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]</li>	rs35485382	2
Q7Z4F1	26020	<ul><li>R->W at 48: in dbSNP:rs2273837<li>M->V at 139: in dbSNP:rs28534929</ul>									<li>rs28534929</li><li>rs2273837</li>	2
Q7Z4G1	170622	<ul><li>H->N at 52: in dbSNP:rs1063485</ul>									rs1063485	2
Q7Z4G4	60487	<ul><li>L->Q at 230: in dbSNP:rs17854915</ul>									rs17854915	2
Q7Z4H3	51020	<ul><li>R->C at 64: in dbSNP:rs12213371</ul>									rs12213371	2
Q7Z4H7	54801	<ul><li>H->Q at 674: in dbSNP:rs10511670<li>S->I at 761: in dbSNP:rs4977493</ul>									<li>rs10511670</li><li>rs4977493</li>	2
Q7Z4H8	143888	<ul><li>R->L at 319: in dbSNP:rs17853654</ul>									rs17853654	2
Q7Z4H9	84792	<ul><li>G->R at 71: in dbSNP:rs3750041<li>R->Q at 127: in dbSNP:rs3750040<li>V->L at 161: in dbSNP:rs3750039<li>V->M at 198: in dbSNP:rs6952125<li>G->S at 237: in dbSNP:rs2241445</ul>									<li>rs3750039</li><li>rs2241445</li><li>rs3750040</li><li>rs3750041</li><li>rs6952125</li>	2
Q7Z4J2	360203	<ul><li>H->R at 195: in dbSNP:rs35762223<li>P->S at 219: in dbSNP:rs17040344<li>A->E at 282: in dbSNP:rs12336965</ul>									<li>rs12336965</li><li>rs17040344</li><li>rs35762223</li>	2
Q7Z4L5	79809	<ul><li>M->V at 201: in dbSNP:rs1432273<li>A->T at 276: in dbSNP:rs7592429<li>P->S at 463: in dbSNP:rs16851307<li>L->F at 473: in dbSNP:rs2163649<li>K->R at 846: in dbSNP:rs7595010</ul>									<li>rs2163649</li><li>rs7595010</li><li>rs7592429</li><li>rs16851307</li><li>rs1432273</li>	2
Q7Z4M0	283677	<ul><li>V->M at 148: in dbSNP:rs12102004</ul>									rs12102004	2
Q7Z4N2	4308	<ul><li>S->N at 32: in dbSNP:rs2241493<li>V->M at 605: in dbSNP:rs17815774<li>N->T at 1229: in dbSNP:rs17227996<li>R->H at 1305: in dbSNP:rs13380059<li>V->I at 1395: in dbSNP:rs3784588<li>R->G at 1422: in dbSNP:rs3784587<li>H->Q at 1498: in dbSNP:rs12898290</ul>									<li>rs17227996</li><li>rs3784588</li><li>rs13380059</li><li>rs17815774</li><li>rs2241493</li><li>rs3784587</li><li>rs12898290</li>	2
Q7Z4N8	283208	<ul><li>D->N at 400: in dbSNP:rs2282488</ul>									rs2282488	2
Q7Z4Q2	55027	<ul><li>R->S at 302: in dbSNP:rs34703459</ul>									rs34703459	2
Q7Z4R2		<ul><li>P->T at 27: in dbSNP:rs17853975</ul>									rs17853975	2
Q7Z4S6	55605	<ul><li>M->T at 356: in CFEOM1, MIM: 135700<li>M->R at 947: in CFEOM1, MIM: 135700<li>M->T at 947: in CFEOM1, MIM: 135700<li>M->V at 947: in CFEOM1, MIM: 135700<li>R->Q at 954: in CFEOM1, MIM: 135700<li>R->W at 954: in CFEOM1, MIM: 135700<li>I->T at 1010: in CFEOM1, MIM: 135700</ul>								Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]		2
Q7Z4T8	168391	<ul><li>R->C at 124: in dbSNP:rs6960270</ul>									rs6960270	2
Q7Z4T9		<ul><li>P->A at 207: in dbSNP:rs6438544<li>S->T at 253: in dbSNP:rs9817771<li>S->C at 320: in dbSNP:rs9819218</ul>									<li>rs6438544</li><li>rs9819218</li><li>rs9817771</li>	2
Q7Z4V0	220929	<ul><li>P->S at 173: in dbSNP:rs10160116<li>K->N at 381: in a breast cancer sample; somatic mutation</ul>									rs10160116	2
Q7Z4W2	119180	<ul><li>D->G at 144: in dbSNP:rs1054570</ul>									rs1054570	2
Q7Z570	91752	<ul><li>Q->L at 261: in dbSNP:rs12476147<li>N->S at 324: in a colorectal cancer sample; somatic mutation<li>D->G at 479: in dbSNP:rs35676856<li>E->K at 542: in dbSNP:rs4667001<li>K->R at 600: in dbSNP:rs35925696<li>T->K at 707: in dbSNP:rs1366842<li>H->R at 747: in dbSNP:rs12477430<li>L->V at 1081: in dbSNP:rs3731834<li>G->R at 1152: in dbSNP:rs12105159</ul>									<li>rs1366842</li><li>rs35925696</li><li>rs3731834</li><li>rs12105159</li><li>rs12477430</li><li>rs4667001</li><li>rs35676856</li><li>rs12476147</li>	2
Q7Z572	374955	<ul><li>P->S at 24: in a breast cancer sample; somatic mutation<li>I->L at 53: in dbSNP:rs12087671<li>Q->R at 184: in dbSNP:rs4661746<li>V->L at 255: in dbSNP:rs525409<li>N->K at 390: in dbSNP:rs12133574</ul>									<li>rs12087671</li><li>rs4661746</li><li>rs525409</li><li>rs12133574</li>	2
Q7Z591	80709	<ul><li>P->L at 624: in dbSNP:rs3748176<li>Q->R at 1097: in dbSNP:rs1265891<li>R->Q at 1119: in dbSNP:rs3748178<li>S->P at 1303: in dbSNP:rs2250242<li>Y->C at 1327: in dbSNP:rs2787344</ul>									<li>rs2250242</li><li>rs3748178</li><li>rs1265891</li><li>rs3748176</li><li>rs2787344</li>	2
Q7Z5B4	79608	<ul><li>P->H at 57: in dbSNP:rs17855498<li>G->V at 346: in a colorectal cancer sample; somatic mutation</ul>									rs17855498	2
Q7Z5H3	58504	<ul><li>T->K at 410: in dbSNP:rs1867586<li>R->C at 612: in dbSNP:rs3747853</ul>									<li>rs3747853</li><li>rs1867586</li>	2
Q7Z5H4	317705	<ul><li>R->C at 350: in allele VN1R5*3: in dbSNP rsrs41308154</ul>							<li>Q7Z5H4</li><li>Q7YRP1</li>		rs41308154	2
Q7Z5H5		<ul><li>A->V at 52: in allele VN1R4*3<li>R->L at 58: in allele VN1R4*4<li>D->N at 220: in allele VN1R4*2 and allele VN1R4*3</ul>							<li>Q7Z5H5</li><li>Q7YRP2</li>			2
Q7Z5J4	10743	<ul><li>G->A at 90: in dbSNP:rs3803763<li>P->T at 165: in dbSNP:rs11649804<li>Q->P at 939: in dbSNP:rs1759075</ul>									<li>rs3803763</li><li>rs1759075</li><li>rs11649804</li>	2
Q7Z5J8	150709	<ul><li>I->V at 675: in dbSNP:rs16831887<li>F->L at 1077: in dbSNP:rs1225090</ul>									<li>rs1225090</li><li>rs16831887</li>	2
Q7Z5K2	23063	<ul><li>V->I at 124: in dbSNP:rs10887621</ul>									rs10887621	2
Q7Z5L0	284013	<ul><li>T->A at 26: in dbSNP:rs4790706<li>T->S at 77: in dbSNP:rs2279961</ul>									<li>rs4790706</li><li>rs2279961</li>	2
Q7Z5L2		<ul><li>H->R at 566: in dbSNP:rs11189513<li>H->R at 656: in dbSNP:rs1952061</ul>									<li>rs11189513</li><li>rs1952061</li>	2
Q7Z5L4	219938	<ul><li>A->V at 50: in dbSNP:rs2282602</ul>									rs2282602	2
Q7Z5L7	127435	<ul><li>T->M at 444: in dbSNP:rs12567021<li>V->A at 472: in dbSNP:rs1288389</ul>									<li>rs1288389</li><li>rs12567021</li>	2
Q7Z5L9	359948	<ul><li>A->V at 254: in dbSNP:rs11502</ul>									rs11502	2
Q7Z5M8	145447	<ul><li>I->V at 282: in a breast cancer sample; somatic mutation<li>F->L at 334: in dbSNP:rs7154732</ul>									rs7154732	2
Q7Z5N4	221935	<ul><li>D->N at 1016: in dbSNP:rs11978101<li>H->R at 1641: in dbSNP:rs671694</ul>									<li>rs671694</li><li>rs11978101</li>	2
Q7Z5Q5	353497	<ul><li>Q->H at 121: in dbSNP:rs2353552<li>R->G at 201: in dbSNP rsrs35884361<li>M->L at 310: in dbSNP:rs10018786<li>P->S at 315: in dbSNP:rs11725880<li>G->S at 336: in dbSNP:rs10011549<li>R->C at 425: in dbSNP:rs9328764<li>S->G at 502: in dbSNP rsrs34574483<li>F->L at 711: in dbSNP rsrs34554757</ul>									<li>rs34574483</li><li>rs11725880</li><li>rs10011549</li><li>rs35884361</li><li>rs10018786</li><li>rs34554757</li><li>rs9328764</li><li>rs2353552</li>	2
Q7Z5R6	54518	<ul><li>T->A at 404: in dbSNP:rs34081356</ul>									rs34081356	2
Q7Z5S9	55314	<ul><li>D->G at 157: in dbSNP:rs34277853</ul>									rs34277853	2
Q7Z5U6	348793	<ul><li>S->C at 60: in a breast cancer sample; somatic mutation<li>H->P at 338: in dbSNP:rs1048032</ul>									rs1048032	2
Q7Z5V6	220004	<ul><li>T->N at 238: in dbSNP:rs11230707<li>S->T at 382: in dbSNP:rs12787061</ul>									<li>rs11230707</li><li>rs12787061</li>	2
Q7Z5W3	144233	<ul><li>S->R at 288: in dbSNP:rs11169172</ul>									rs11169172	2
Q7Z5Y6	353500	<ul><li>R->H at 293: in dbSNP:rs6525</ul>									rs6525	2
Q7Z5Y7	222658	<ul><li>S->T at 171: in dbSNP:rs2239808</ul>									rs2239808	2
Q7Z614	124460	<ul><li>P->L at 35: in dbSNP:rs1131716</ul>									rs1131716	2
Q7Z628	10276	<ul><li>D->N at 202: in a breast cancer sample; somatic mutation<li>T->I at 417: in dbSNP:rs34658946</ul>									rs34658946	2
Q7Z695	90956	<ul><li>S->P at 307: in dbSNP:rs1140034<li>V->L at 418: in dbSNP rsrs3748092<li>V->M at 418: in dbSNP:rs3748092<li>P->L at 622: in dbSNP:rs1046515<li>P->L at 626: in dbSNP rsrs55922126</ul>									<li>rs1046515</li><li>rs55922126</li><li>rs1140034</li><li>rs3748092</li>	2
Q7Z6A9	151888	<ul><li>S->R at 157: in dbSNP:rs2931761<li>L->P at 267: in dbSNP:rs9288952</ul>									<li>rs9288952</li><li>rs2931761</li>	2
Q7Z6B0	55297	<ul><li>M->V at 261: in dbSNP:rs1133028<li>M->V at 314: in dbSNP:rs10771427</ul>									<li>rs10771427</li><li>rs1133028</li>	2
Q7Z6E9	5930	<ul><li>D->H at 43: in dbSNP:rs16973796<li>V->A at 555: in dbSNP:rs16973840<li>K->I at 1208: in dbSNP:rs3743968</ul>									<li>rs16973840</li><li>rs16973796</li><li>rs3743968</li>	2
Q7Z6G3	54550	<ul><li>G->S at 233: in dbSNP:rs2292323<li>T->S at 235: in dbSNP:rs2292324<li>Q->H at 308: in dbSNP:rs2292329<li>L->V at 353: in dbSNP:rs2271298</ul>									<li>rs2292323</li><li>rs2292324</li><li>rs2292329</li><li>rs2271298</li>	2
Q7Z6I6	257106	<ul><li>F->L at 70: in dbSNP:rs17854839<li>L->V at 591: in dbSNP:rs3813609</ul>									<li>rs17854839</li><li>rs3813609</li>	2
Q7Z6J0	57630	<ul><li>P->S at 663: in dbSNP:rs3811813</ul>									rs3811813	2
Q7Z6J4	221472	<ul><li>Q->H at 32: in dbSNP:rs831510</ul>									rs831510	2
Q7Z6J8	90025	<ul><li>T->P at 174: in dbSNP:rs12528542<li>V->M at 379: in dbSNP:rs7739323</ul>									<li>rs7739323</li><li>rs12528542</li>	2
Q7Z6J9	283989	<ul><li>D->E at 4: in dbSNP:rs7216673<li>H->Q at 38: in dbSNP:rs8079373<li>S->P at 93: in PCH4; associated with S-307 on the other allele, MIM: 225753<li>A->S at 307: in PCH2A and PCH4; associated with P-93 on the other allele, MIM: 225753<li>N->K at 347: in dbSNP:rs9911502, MIM: 225753<li>V->A at 437: in dbSNP:rs8064529, MIM: 225753</ul>								<li>Pontocerebellar hypoplasia type 2A (PCH2A) [MIM:277470]</li><li>Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753]</li>	<li>rs9911502</li><li>rs8079373</li><li>rs7216673</li><li>rs8064529</li>	2
Q7Z6M1	10244	<ul><li>P->A at 58: in dbSNP:rs13302059<li>R->G at 60: in dbSNP:rs17855990<li>T->P at 67: in dbSNP:rs13302050<li>H->Y at 73: in dbSNP:rs16927965<li>S->C at 95: in dbSNP:rs34991596<li>D->G at 313: in dbSNP:rs17849326<li>M->I at 333: in dbSNP:rs15233</ul>									<li>rs17855990</li><li>rs17849326</li><li>rs13302059</li><li>rs16927965</li><li>rs34991596</li><li>rs13302050</li><li>rs15233</li>	2
Q7Z6M4	130916	<ul><li>T->A at 45: in dbSNP:rs3796093<li>M->T at 189: in dbSNP:rs2286323<li>L->V at 339: in dbSNP:rs2240539<li>D->E at 347: in dbSNP:rs10203977<li>D->E at 378: in dbSNP:rs10167328</ul>									<li>rs10167328</li><li>rs10203977</li><li>rs3796093</li><li>rs2286323</li><li>rs2240539</li>	2
Q7Z6R9	83741	<ul><li>V->F at 214: in a breast cancer sample; somatic mutation</ul>										2
Q7Z6W7	150353	<ul><li>E->A at 41: in dbSNP:rs2269619</ul>									rs2269619	2
Q7Z6Z6	150379	<ul><li>L->F at 140: in dbSNP:rs2071883<li>T->I at 200: in dbSNP:rs10428037<li>W->R at 286: in dbSNP:rs739231</ul>									<li>rs739231</li><li>rs2071883</li><li>rs10428037</li>	2
Q7Z6Z7	10075	<ul><li>R->H at 2981: in MRXS-Turner<li>R->W at 4013: in MRXS-Turner<li>R->C at 4187: in MRXS-Turner</ul>										2
Q7Z713	353322	<ul><li>T->S at 152: in dbSNP:rs4317244</ul>									rs4317244	2
Q7Z745		<ul><li>M->V at 11: in dbSNP:rs13174484<li>R->W at 191: in dbSNP:rs865093<li>L->I at 263: in dbSNP:rs10045243<li>E->V at 468: in dbSNP:rs17198125<li>I->V at 496: in dbSNP:rs325864<li>R->H at 526: in dbSNP:rs13173930<li>K->N at 617: in dbSNP:rs17854768<li>D->V at 648: in dbSNP:rs16870720<li>M->V at 781: in dbSNP:rs10067611<li>N->K at 918: in dbSNP:rs10054110<li>P->L at 1179: in dbSNP:rs2271704</ul>									<li>rs16870720</li><li>rs13174484</li><li>rs10067611</li><li>rs10045243</li><li>rs2271704</li><li>rs17854768</li><li>rs13173930</li><li>rs17198125</li><li>rs325864</li><li>rs10054110</li><li>rs865093</li>	2
Q7Z7A1	11064	<ul><li>V->I at 56: in dbSNP:rs10818503<li>P->L at 216: in dbSNP:rs10818504<li>A->T at 889: in dbSNP:rs17292952</ul>									<li>rs10818503</li><li>rs17292952</li><li>rs10818504</li>	2
Q7Z7A3	90353	<ul><li>A->V at 107: in dbSNP:rs17855403</ul>									rs17855403	2
Q7Z7A4	54899	<ul><li>I->V at 426: in dbSNP rsrs55973253<li>K->R at 481: in dbSNP rsrs56384862<li>A->V at 525: in dbSNP:rs34579268<li>A->V at 535: in dbSNP:rs34579268</ul>									<li>rs55973253</li><li>rs56384862</li><li>rs34579268</li>	2
Q7Z7B0	27145	<ul><li>P->S at 1003: in dbSNP:rs34807169</ul>									rs34807169	2
Q7Z7B8	245939	<ul><li>K->N at 27: in dbSNP:rs4813043</ul>									rs4813043	2
Q7Z7F7	128308	<ul><li>R->C at 24: in dbSNP:rs822730<li>R->H at 42: in dbSNP:rs35265990</ul>									<li>rs35265990</li><li>rs822730</li>	2
Q7Z7G1	116449	<ul><li>S->G at 65: in dbSNP:rs16869924</ul>									rs16869924	2
Q7Z7G8	157680	<ul><li>L->R at 2193: in Cohen syndrome; could be a rare polymorphism, MIM: 216550<li>Y->C at 2341: in Cohen syndrome, MIM: 216550<li>G->D at 2645: in Cohen syndrome, MIM: 216550<li>N->S at 2993: in Cohen syndrome: in dbSNP rsrs28940272, MIM: 216550<li>L->V at 3001: in a breast cancer sample; somatic mutation, MIM: 216550</ul>								Cohen syndrome [MIM:216550]	rs28940272	2
Q7Z7H8	124995	<ul><li>V->I at 125: in dbSNP:rs16948568</ul>									rs16948568	2
Q7Z7J5	151871	<ul><li>R->Q at 131: in dbSNP:rs9809030</ul>									rs9809030	2
Q7Z7K2	168544	<ul><li>T->A at 324: in dbSNP:rs6965332</ul>									rs6965332	2
Q7Z7L1	91607	<ul><li>V->F at 121: in dbSNP:rs12453150<li>D->N at 301: in dbSNP:rs4796077<li>Y->C at 822: in dbSNP:rs3803860</ul>									<li>rs3803860</li><li>rs4796077</li><li>rs12453150</li>	2
Q7Z7L8		<ul><li>T->A at 26: in dbSNP:rs1973717<li>S->P at 47: in dbSNP:rs12797684<li>R->S at 110: in dbSNP:rs12796438<li>R->C at 144: in dbSNP:rs12796667<li>F->S at 151: in dbSNP:rs12798337<li>P->S at 352: in dbSNP:rs2434483</ul>									<li>rs12797684</li><li>rs1973717</li><li>rs2434483</li><li>rs12798337</li><li>rs12796667</li><li>rs12796438</li>	2
Q7Z7M8	374907	<ul><li>S->G at 137: in dbSNP:rs284662</ul>									rs284662	2
Q7Z7M9	11227	<ul><li>P->L at 77: in dbSNP:rs3739112<li>Q->H at 489: in dbSNP:rs6759356<li>E->D at 507: in a breast cancer sample; somatic mutation<li>L->F at 692: in a breast cancer sample; somatic mutation</ul>									<li>rs3739112</li><li>rs6759356</li>	2
Q86SG4		<ul><li>C->R at 91: in dbSNP:rs8042811</ul>									rs8042811	2
Q86SG5	338324	<ul><li>A->T at 84: in dbSNP:rs3006414</ul>									rs3006414	2
Q86SH4		<ul><li>T->S at 50: in dbSNP:rs7270737</ul>									rs7270737	2
Q86SJ6	147409	<ul><li>Missing  at 125-335: in LAH; in Pakistani population<li>A->T at 154: in dbSNP:rs13381457<li>I->T at 535: in dbSNP:rs7229252<li>I->L at 644: in dbSNP:rs4799570</ul>									<li>rs7229252</li><li>rs4799570</li><li>rs13381457</li>	2
Q86SQ0	90102	<ul><li>P->S at 941: in dbSNP:rs3749298</ul>									rs3749298	2
Q86SQ4		<ul><li>S->G at 123: in dbSNP:rs17280293<li>K->Q at 230: in dbSNP:rs11155242<li>Q->R at 1127: in dbSNP:rs1262686</ul>									<li>rs11155242</li><li>rs1262686</li><li>rs17280293</li>	2
Q86SQ6	84435	<ul><li>T->I at 38: in an acute myeloid leukemia sample; somatic mutation</ul>										2
Q86SQ7	10806	<ul><li>E->D at 378: in dbSNP:rs2275155</ul>									rs2275155	2
Q86SQ9	79947	<ul><li>V->M at 253: in dbSNP:rs3816539</ul>									rs3816539	2
Q86SS6	143425	<ul><li>D->N at 445: in a colorectal cancer sample; somatic mutation</ul>										2
Q86SX6	51218	<ul><li>A->T at 146: in dbSNP:rs11628901</ul>									rs11628901	2
Q86T26	132724	<ul><li>V->I at 242: in dbSNP:rs12331141<li>D->A at 325: in dbSNP:rs2319796<li>T->S at 348: in dbSNP:rs2319797</ul>									<li>rs12331141</li><li>rs2319797</li><li>rs2319796</li>	2
Q86T75		<ul><li>R->K at 41: in dbSNP:rs6675526<li>L->V at 44: in dbSNP:rs4323762</ul>									<li>rs4323762</li><li>rs6675526</li>	2
Q86T90	57536	<ul><li>R->C at 383: in dbSNP:rs12326301</ul>									rs12326301	2
Q86TB3		<ul><li>K->T at 2: in dbSNP:rs6566987<li>R->S at 136: in dbSNP:rs9944810<li>H->Q at 719: in dbSNP:rs12103986<li>G->S at 810: in dbSNP:rs3809970<li>R->T at 825: in dbSNP:rs3809972<li>K->N at 829: in dbSNP:rs3809973<li>S->L at 884: in dbSNP:rs3809974<li>T->I at 891: in dbSNP:rs3826593<li>N->K at 916: in dbSNP:rs4940404<li>E->K at 942: in an ovarian undifferentiated carcinoma sample; somatic mutation<li>S->T at 977: in dbSNP:rs3809975<li>L->V at 1057: in dbSNP:rs3809976<li>T->I at 1133: in dbSNP:rs3826593<li>K->N at 1134: in dbSNP:rs35791514<li>H->P at 1174: in dbSNP:rs3809977<li>L->V at 1296: in dbSNP:rs3809976<li>P->S at 1449: in dbSNP:rs3809982<li>K->T at 1476: in a melanoma metastatic sample; somatic mutation<li>A->S at 1551: in dbSNP:rs3809983<li>Q->R at 1579: in dbSNP:rs33910491<li>K->E at 1729: in dbSNP:rs34409558<li>K->E at 1730: in dbSNP:rs17065127<li>H->Y at 1767: in dbSNP:rs7234999<li>E->K at 1969: in dbSNP:rs17065127<li>I->V at 2157: in dbSNP:rs7240666</ul>									<li>rs3809977</li><li>rs7234999</li><li>rs7240666</li><li>rs3809975</li><li>rs3809976</li><li>rs9944810</li><li>rs12103986</li><li>rs33910491</li><li>rs17065127</li><li>rs6566987</li><li>rs3809970</li><li>rs34409558</li><li>rs3809982</li><li>rs3809973</li><li>rs3809983</li><li>rs3809974</li><li>rs3809972</li><li>rs35791514</li><li>rs4940404</li><li>rs3826593</li>	2
Q86TC9	84665	<ul><li>V->A at 393: in dbSNP:rs11596653<li>F->L at 628: in dbSNP:rs10823148<li>S->N at 691: in dbSNP:rs10997975<li>S->N at 707: in dbSNP:rs7916821<li>S->R at 803: in dbSNP:rs3814182<li>P->T at 1135: in dbSNP:rs7079481</ul>									<li>rs7916821</li><li>rs10823148</li><li>rs7079481</li><li>rs11596653</li><li>rs10997975</li><li>rs3814182</li>	2
Q86TE4	338645	<ul><li>E->Q at 308: in dbSNP:rs7930185</ul>									rs7930185	2
Q86TH1	9719	<ul><li>R->H at 113: in geleophysic dysplasia; leads to the reduced secretion of the mutated protein, MIM: 231050<li>E->K at 114: in geleophysic dysplasia, MIM: 231050<li>P->L at 147: in geleophysic dysplasia; leads to the reduced secretion of the mutated protein, MIM: 231050<li>V->I at 364: in dbSNP:rs35767802, MIM: 231050<li>G->R at 811: in geleophysic dysplasia; leads to the reduced secretion of the mutated protein, MIM: 231050</ul>	secretion	GO:0046903						Geleophysic dysplasia [MIM:231050]	rs35767802	2
Q86TI0	23216	<ul><li>S->P at 14: in dbSNP:rs2279027<li>T->I at 55: in dbSNP:rs4008480<li>R->W at 125: may be associated with risk of familial obesity; dbSNP:rs35859249<li>V->G at 228: in dbSNP:rs10501<li>Y->S at 685: in dbSNP:rs7677030<li>R->Q at 1136: in dbSNP:rs13110318</ul>									<li>rs13110318</li><li>rs2279027</li><li>rs4008480</li><li>rs7677030</li><li>rs10501</li><li>rs35859249</li>	2
Q86TJ5	115196	<ul><li>E->G at 190: in dbSNP:rs867168<li>V->I at 211: in dbSNP:rs867169</ul>									<li>rs867169</li><li>rs867168</li>	2
Q86TM3	168400	<ul><li>V->A at 62: in dbSNP:rs4412516<li>M->I at 381: in dbSNP:rs5925720<li>R->M at 391: in dbSNP:rs5926203</ul>									<li>rs4412516</li><li>rs5926203</li><li>rs5925720</li>	2
Q86TN4	83707	<ul><li>F->L at 3: in dbSNP:rs12788168<li>H->R at 172: in dbSNP:rs1059440<li>R->C at 221: in dbSNP:rs11549690</ul>									<li>rs1059440</li><li>rs12788168</li><li>rs11549690</li>	2
Q86TP1	58497	<ul><li>G->S at 397: in dbSNP:rs3738477</ul>									rs3738477	2
Q86TS9	122704	<ul><li>G->V at 5: in dbSNP:rs1135641<li>V->A at 19: in dbSNP:rs4982685<li>K->R at 104: in dbSNP:rs11538931</ul>									<li>rs1135641</li><li>rs11538931</li><li>rs4982685</li>	2
Q86TU6		<ul><li>E->D at 21: in dbSNP:rs8011237</ul>									rs8011237	2
Q86TU7	84193	<ul><li>N->D at 278: in dbSNP:rs1740231</ul>									rs1740231	2
Q86TY3	145407	<ul><li>T->I at 96: in dbSNP:rs3829765<li>A->V at 391: in dbSNP:rs1018504<li>V->F at 528: in dbSNP:rs12886921<li>Q->E at 613: in dbSNP:rs2273442</ul>									<li>rs1018504</li><li>rs3829765</li><li>rs12886921</li><li>rs2273442</li>	2
Q86TZ1	115669	<ul><li>I->S at 87: in dbSNP:rs12896790<li>A->T at 98: in dbSNP:rs17768654<li>T->I at 140: in dbSNP:rs4901284<li>T->S at 376: in dbSNP:rs17107176</ul>									<li>rs4901284</li><li>rs17107176</li><li>rs17768654</li><li>rs12896790</li>	2
Q86U06	55147	<ul><li>D->N at 184: in dbSNP:rs34246954<li>A->AA at 393<li>F->L at 428: in dbSNP:rs1127066</ul>									<li>rs1127066</li><li>rs34246954</li>	2
Q86U17	256394	<ul><li>T->S at 406: in dbSNP:rs17752285</ul>									rs17752285	2
Q86U38	161424	<ul><li>P->S at 51: in dbSNP:rs11848295<li>S->N at 308: in dbSNP:rs4280164<li>S->Y at 497: in a breast cancer sample; somatic mutation<li>R->Q at 626: in a breast cancer sample; somatic mutation</ul>									<li>rs4280164</li><li>rs11848295</li>	2
Q86U42	8106	<ul><li>A->AAAA at 6</ul>										2
Q86U70	8861	<ul><li>R->Q at 299: in a colorectal cancer sample; somatic mutation</ul>										2
Q86UA6	84268	<ul><li>K->N at 103: common polymorphism; results in a decrease in sumoylation; dbSNP:rs12761</ul>	sumoylation	GO:0016925							rs12761	2
Q86UB9	65084	<ul><li>P->H at 193: in dbSNP:rs17854687<li>G->R at 218: in dbSNP:rs2276102<li>G->A at 430: in dbSNP:rs11235097</ul>									<li>rs17854687</li><li>rs11235097</li><li>rs2276102</li>	2
Q86UC2	83861	<ul><li>N->S at 201: in dbSNP:rs16889320<li>R->Q at 213: in dbSNP:rs34582178<li>R->Q at 398: in dbSNP:rs10455840<li>M->T at 439: in dbSNP:rs768994<li>E->K at 484: in dbSNP:rs12204826<li>G->D at 518: in dbSNP:rs3756987</ul>									<li>rs768994</li><li>rs34582178</li><li>rs16889320</li><li>rs3756987</li><li>rs10455840</li><li>rs12204826</li>	2
Q86UD1	220323	<ul><li>H->R at 210: in dbSNP:rs2508489<li>R->H at 217: in dbSNP:rs2508490</ul>									<li>rs2508489</li><li>rs2508490</li>	2
Q86UD3	115123	<ul><li>R->Q at 68: in dbSNP:rs34821177</ul>									rs34821177	2
Q86UD4	79673	<ul><li>N->D at 182: in dbSNP:rs34255209</ul>									rs34255209	2
Q86UD5	133308	<ul><li>I->T at 159: in dbSNP:rs7672710<li>V->A at 161: in dbSNP:rs7672707<li>F->C at 357: in dbSNP:rs2276976</ul>									<li>rs7672710</li><li>rs2276976</li><li>rs7672707</li>	2
Q86UD7	353149	<ul><li>V->A at 206: in dbSNP:rs11650318<li>G->S at 234: in dbSNP:rs17855672</ul>									<li>rs11650318</li><li>rs17855672</li>	2
Q86UE3	339327	<ul><li>L->V at 15: in a breast cancer sample; somatic mutation<li>Q->R at 201: in dbSNP:rs17854378<li>R->T at 243: in dbSNP:rs2111543<li>A->V at 253: in dbSNP:rs2111544<li>V->E at 298: in dbSNP:rs17710336<li>E->G at 427: in dbSNP:rs12460371<li>L->F at 452: in dbSNP:rs7255186<li>L->F at 652: in dbSNP:rs12373540</ul>									<li>rs12373540</li><li>rs12460371</li><li>rs17710336</li><li>rs7255186</li><li>rs2111544</li><li>rs17854378</li><li>rs2111543</li>	2
Q86UE6	347730	<ul><li>N->S at 330: in dbSNP:rs6733871</ul>									rs6733871	2
Q86UE8	11011	<ul><li>H->R at 6: in dbSNP rsrs45550140<li>E->D at 54<li>A->G at 95<li>A->G at 108<li>R->L at 109<li>F->L at 173: in a gastric adenocarcinoma sample; somatic mutation<li>R->Q at 262</ul>									rs45550140	2
Q86UG4	133482	<ul><li>A->V at 27: in dbSNP:rs13190449<li>K->R at 381: in dbSNP:rs17150488<li>P->A at 527: in dbSNP:rs10073333<li>T->R at 654: in dbSNP:rs10055840</ul>									<li>rs10073333</li><li>rs10055840</li><li>rs13190449</li><li>rs17150488</li>	2
Q86UK0	26154	<ul><li>S->T at 459: in dbSNP:rs7560008<li>E->G at 550: in dbSNP:rs16853149<li>T->S at 777: in dbSNP:rs7560008<li>G->D at 1251: in dbSNP:rs13414448<li>N->S at 1380: in LI2: in dbSNP rsrs28940269, MIM: 601277<li>G->E at 1381: in LI2: in dbSNP rsrs28940268, MIM: 601277<li>R->H at 1514: in LI2: in dbSNP rsrs28940270, MIM: 601277<li>E->K at 1539: in LI2: in dbSNP rsrs28940271, MIM: 601277<li>R->C at 1546: in dbSNP:rs13401480, MIM: 601277<li>G->S at 1651: in LI2: in dbSNP rsrs28940568, MIM: 601277<li>E->K at 2064: in dbSNP:rs1213011, MIM: 601277<li>D->N at 2365: in HI; dbSNP:rs726070, MIM: 242500</ul>								<li>Ichthyosis lamellar type 2 (LI2) [MIM:601277]</li><li>Ichthyosis harlequin (HI) [MIM:242500]</li>	<li>rs28940271</li><li>rs13414448</li><li>rs28940270</li><li>rs28940568</li><li>rs7560008</li><li>rs726070</li><li>rs28940268</li><li>rs13401480</li><li>rs28940269</li><li>rs1213011</li><li>rs16853149</li>	2
Q86UK5	132884	<ul><li>S->G at 230: in dbSNP:rs4689278<li>I->R at 283: in EVC, MIM: 225500<li>A->S at 630: in a colorectal cancer sample; somatic mutation, MIM: 225500<li>T->A at 699: in dbSNP:rs730469, MIM: 225500<li>R->W at 950: in EVC, MIM: 225500<li>L->V at 994: in a colorectal cancer sample; somatic mutation, MIM: 225500</ul>							P57679	Ellis-van Creveld syndrome (EVC) [MIM:225500]	<li>rs4689278</li><li>rs730469</li>	2
Q86UK7	90850	<ul><li>S->Y at 453: in dbSNP:rs11556528<li>T->M at 637: in dbSNP:rs2286469<li>C->S at 725: in dbSNP:rs2286468</ul>									<li>rs2286469</li><li>rs2286468</li><li>rs11556528</li>	2
Q86UP2	3895	<ul><li>P->R at 226: in a breast cancer sample; somatic mutation<li>V->M at 282: in dbSNP:rs2274073<li>T->P at 1316: in a breast cancer sample; somatic mutation</ul>									rs2274073	2
Q86UP8	84163	<ul><li>H->N at 514: in dbSNP:rs2529318</ul>									rs2529318	2
Q86UQ0	51385	<ul><li>T->A at 12: in dbSNP:rs9847953<li>T->R at 216: in dbSNP:rs11718329</ul>									<li>rs9847953</li><li>rs11718329</li>	2
Q86UQ8	58160	<ul><li>A->D at 45: in dbSNP:rs6465886<li>Q->R at 116: in dbSNP:rs2228687</ul>									<li>rs2228687</li><li>rs6465886</li>	2
Q86UR1	10811	<ul><li>Missing  at 274-476: in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate<li>P->L at 286: in dbSNP:rs34155071</ul>									rs34155071	2
Q86UR5	22999	<ul><li>R->H at 820: in CORD7, MIM: 603649</ul>								Cone-rod dystrophy type 7 (CORD7) [MIM:603649]		2
Q86US8	23293	<ul><li>R->P at 291: in dbSNP:rs1885986<li>K->Q at 294: in dbSNP:rs216195<li>N->T at 341: in dbSNP:rs1885987<li>N->S at 575: in dbSNP:rs34047637<li>A->T at 972: in dbSNP:rs903160<li>R->C at 984: in dbSNP:rs35173108<li>H->R at 1233: in dbSNP:rs2273980</ul>									<li>rs903160</li><li>rs35173108</li><li>rs34047637</li><li>rs1885987</li><li>rs1885986</li><li>rs2273980</li><li>rs216195</li>	2
Q86UT6	79671	<ul><li>P->S at 63: in dbSNP:rs643423<li>R->L at 125: in dbSNP:rs3809045<li>A->E at 793: in dbSNP:rs4245191<li>A->S at 843: in dbSNP:rs35500631</ul>									<li>rs35500631</li><li>rs4245191</li><li>rs643423</li><li>rs3809045</li>	2
Q86UT8	338657	<ul><li>W->G at 244: in dbSNP:rs600648</ul>									rs600648	2
Q86UV5	84196	<ul><li>S->C at 125: in dbSNP:rs4253886<li>E->K at 135: in dbSNP:rs12097805</ul>									<li>rs12097805</li><li>rs4253886</li>	2
Q86UV6	378108	<ul><li>W->R at 13: in dbSNP:rs121966</ul>									rs121966	2
Q86UW1	200931	<ul><li>V->I at 202: in dbSNP:rs939885</ul>									rs939885	2
Q86UW6	55728	<ul><li>S->I at 101: in dbSNP:rs17511668<li>M->V at 196: in dbSNP:rs10014170<li>P->A at 283: in a breast cancer sample; somatic mutation<li>D->N at 611: in dbSNP:rs794001<li>T->A at 1587: in dbSNP:rs2271395</ul>									<li>rs10014170</li><li>rs17511668</li><li>rs794001</li><li>rs2271395</li>	2
Q86UW7	93664	<ul><li>A->T at 298: in dbSNP:rs17144625</ul>									rs17144625	2
Q86UW9	113878	<ul><li>A->T at 94: in dbSNP:rs2462312<li>G->E at 384: in dbSNP:rs1638152<li>T->A at 421: in dbSNP:rs6979487</ul>									<li>rs6979487</li><li>rs1638152</li><li>rs2462312</li>	2
Q86UX2	80760	<ul><li>E->K at 139: in dbSNP:rs12761771<li>N->H at 207: in dbSNP:rs36056263<li>T->P at 570: in dbSNP:rs2275069<li>R->C at 629: in dbSNP:rs34213756</ul>									<li>rs36056263</li><li>rs2275069</li><li>rs12761771</li><li>rs34213756</li>	2
Q86UX6	282974	<ul><li>T->A at 334: in dbSNP:rs17854384<li>R->H at 376: in a colorectal cancer sample; somatic mutation<li>A->T at 454: in dbSNP rsrs56109103<li>E->K at 467: in dbSNP rsrs55812591</ul>									<li>rs56109103</li><li>rs17854384</li><li>rs55812591</li>	2
Q86UY5	84985	<ul><li>A->T at 237: in dbSNP:rs7813708</ul>									rs7813708	2
Q86UY8	51559	<ul><li>A->E at 266: in dbSNP:rs12184494</ul>									rs12184494	2
Q86UZ6		<ul><li>T->A at 11: in dbSNP:rs2281929</ul>									rs2281929	2
Q86V20	54537	<ul><li>F->L at 132: in dbSNP:rs3129520<li>S->C at 550: in dbSNP:rs11202365<li>R->H at 747: in dbSNP:rs11816168</ul>									<li>rs3129520</li><li>rs11202365</li><li>rs11816168</li>	2
Q86V21	65985	<ul><li>I->V at 118: in dbSNP:rs12831803</ul>									rs12831803	2
Q86V24	79602	<ul><li>Q->R at 39: in dbSNP:rs12298275</ul>									rs12298275	2
Q86V40	129293	<ul><li>H->R at 143: in dbSNP:rs1863772<li>R->Q at 379: in dbSNP:rs2288352<li>P->L at 381: in dbSNP:rs1649292</ul>									<li>rs1863772</li><li>rs2288352</li><li>rs1649292</li>	2
Q86V42	220108	<ul><li>D->H at 181: in dbSNP:rs17075482</ul>									rs17075482	2
Q86V48	7798	<ul><li>G->S at 458: in dbSNP:rs477830<li>Q->K at 461: in dbSNP:rs3765407<li>D->N at 868: in dbSNP:rs10799790</ul>									<li>rs3765407</li><li>rs477830</li><li>rs10799790</li>	2
Q86V59	55228	<ul><li>S->T at 80: in dbSNP:rs12610254<li>C->Y at 97: in dbSNP:rs7248888</ul>									<li>rs7248888</li><li>rs12610254</li>	2
Q86V71	353088	<ul><li>H->Y at 650: in dbSNP:rs2562473</ul>									rs2562473	2
Q86V85	160897	<ul><li>T->N at 32: in a breast cancer sample; somatic mutation</ul>										2
Q86V87	64760	<ul><li>T->A at 315: in dbSNP:rs35497596<li>G->R at 667: in dbSNP:rs7822461</ul>									<li>rs7822461</li><li>rs35497596</li>	2
Q86VB7	9332	<ul><li>V->I at 342: in dbSNP:rs4883263</ul>									rs4883263	2
Q86VD1	27136	<ul><li>T->P at 153: in dbSNP:rs35282274<li>K->M at 322: in dbSNP:rs17225637<li>I->F at 470: in dbSNP:rs4855576<li>M->V at 478: in dbSNP:rs3762697<li>M->I at 649: in dbSNP:rs35421732<li>S->N at 767: in dbSNP:rs2290057<li>H->Y at 836: in dbSNP:rs2593943<li>S->C at 982: in dbSNP:rs16855035<li>S->W at 982: in dbSNP:rs16855035</ul>									<li>rs17225637</li><li>rs2290057</li><li>rs16855035</li><li>rs4855576</li><li>rs35421732</li><li>rs3762697</li><li>rs2593943</li><li>rs35282274</li>	2
Q86VD7	284439	<ul><li>S->P at 39: in dbSNP:rs17854359<li>L->M at 312: in dbSNP:rs17854358</ul>									<li>rs17854359</li><li>rs17854358</li>	2
Q86VD9	80235	<ul><li>T->A at 266: in dbSNP:rs574365<li>Q->R at 340: in dbSNP:rs4916589<li>V->A at 417: in dbSNP:rs1147238<li>M->I at 487: in dbSNP:rs17855662</ul>									<li>rs4916589</li><li>rs574365</li><li>rs17855662</li><li>rs1147238</li>	2
Q86VE3		<ul><li>W->R at 92: in dbSNP:rs10126146</ul>									rs10126146	2
Q86VF2	91156	<ul><li>T->M at 1056: in dbSNP:rs6690992<li>H->Y at 1095: in dbSNP:rs3738270</ul>									<li>rs6690992</li><li>rs3738270</li>	2
Q86VF7	4892	<ul><li>A->S at 132: in dbSNP:rs34700024<li>Q->E at 186: in dbSNP:rs35049661<li>V->A at 208: in dbSNP:rs2154028<li>Y->C at 249: in dbSNP:rs2185913<li>A->T at 282: in dbSNP:rs2275799<li>A->T at 344: in dbSNP:rs3121478<li>Q->R at 360: in dbSNP:rs3127106<li>D->N at 484: in dbSNP:rs11196400<li>S->L at 490: in dbSNP:rs3189030<li>N->I at 519: in dbSNP:rs2270182<li>A->S at 647: in dbSNP:rs2286734<li>A->V at 674: in dbSNP:rs2286735<li>R->C at 884: in dbSNP:rs868738<li>A->V at 1112: in dbSNP:rs1539587<li>I->V at 1183: in dbSNP:rs10749138<li>L->P at 1531: in dbSNP:rs11196389<li>R->C at 1566: in dbSNP:rs1885434<li>D->N at 1569: in dbSNP:rs11575798<li>A->S at 1643: in dbSNP:rs11575797</ul>									<li>rs2275799</li><li>rs11196389</li><li>rs11575798</li><li>rs11575797</li><li>rs10749138</li><li>rs11196400</li><li>rs3189030</li><li>rs868738</li><li>rs3121478</li><li>rs1885434</li><li>rs2185913</li><li>rs34700024</li><li>rs35049661</li><li>rs2154028</li><li>rs2286734</li><li>rs2286735</li><li>rs1539587</li><li>rs2270182</li><li>rs3127106</li>	2
Q86VH2	55582	<ul><li>I->V at 213: in dbSNP:rs12001918<li>R->Q at 300: in dbSNP:rs35594736</ul>									<li>rs35594736</li><li>rs12001918</li>	2
Q86VI1	100130525	<ul><li>Y->N at 75: in a breast cancer sample; somatic mutation<li>A->D at 514: in a breast cancer sample; somatic mutation<li>Q->E at 561: in dbSNP:rs9939768<li>S->G at 634: in dbSNP:rs16957212</ul>									<li>rs9939768</li><li>rs16957212</li>	2
Q86VL8	146802	<ul><li>G->R at 429: in dbSNP:rs34399035</ul>									rs34399035	2
Q86VM9	124245	<ul><li>A->T at 368: in dbSNP:rs34808360<li>H->R at 440: in dbSNP:rs17855686</ul>									<li>rs34808360</li><li>rs17855686</li>	2
Q86VP1	8887	<ul><li>S->N at 58: in dbSNP:rs7809260<li>L->I at 307: in dbSNP:rs11540483<li>Q->R at 457: in a breast cancer sample; somatic mutation</ul>									<li>rs11540483</li><li>rs7809260</li>	2
Q86VP3	23241	<ul><li>T->A at 185: in dbSNP:rs8010888<li>L->S at 493: in dbSNP:rs4076933</ul>									<li>rs4076933</li><li>rs8010888</li>	2
Q86VP6	55832	<ul><li>V->A at 803: in dbSNP:rs12580996<li>A->V at 952: in dbSNP:rs17854618</ul>									<li>rs12580996</li><li>rs17854618</li>	2
Q86VQ0	167691	<ul><li>L->S at 24: in dbSNP:rs2655655<li>D->A at 26: in dbSNP:rs34068461<li>R->Q at 66: in dbSNP:rs35338066<li>A->P at 546: in dbSNP:rs35415141<li>G->D at 656: in dbSNP:rs1875845</ul>									<li>rs34068461</li><li>rs35415141</li><li>rs35338066</li><li>rs2655655</li><li>rs1875845</li>	2
Q86VQ3	84203	<ul><li>K->E at 341: in dbSNP:rs11081510<li>D->G at 357: in dbSNP:rs2240906<li>A->T at 461: in dbSNP:rs17732496<li>R->T at 487: in dbSNP:rs17805544</ul>									<li>rs17732496</li><li>rs11081510</li><li>rs17805544</li><li>rs2240906</li>	2
Q86VR8	24147	<ul><li>M->L at 153: in dbSNP:rs12792700</ul>									rs12792700	2
Q86VS3	64799	<ul><li>L->V at 932: in dbSNP:rs3985641</ul>									rs3985641	2
Q86VS8	84376	<ul><li>Q->R at 221: in a breast cancer sample; somatic mutation<li>Y->S at 670: in dbSNP:rs34131505</ul>									rs34131505	2
Q86VV4	202151	<ul><li>R->T at 70: in dbSNP:rs1035480<li>A->D at 111: in dbSNP:rs35433829<li>A->V at 271: in dbSNP:rs16902872</ul>									<li>rs16902872</li><li>rs35433829</li><li>rs1035480</li>	2
Q86VV8	25914	<ul><li>S->A at 126: in dbSNP:rs3911730<li>K->R at 245: in dbSNP:rs17082206<li>H->R at 1742: in dbSNP:rs285227<li>S->F at 1761: in dbSNP:rs4891392</ul>									<li>rs17082206</li><li>rs3911730</li><li>rs4891392</li><li>rs285227</li>	2
Q86VW0	91404	<ul><li>Y->F at 49: in dbSNP:rs17854501<li>V->A at 563: in dbSNP:rs1047994</ul>									<li>rs17854501</li><li>rs1047994</li>	2
Q86VW1	85413	<ul><li>H->R at 49: in dbSNP:rs714368<li>V->A at 252: in dbSNP:rs723685<li>M->T at 409: in dbSNP:rs12210538<li>V->I at 431: in dbSNP:rs35948062</ul>									<li>rs723685</li><li>rs714368</li><li>rs35948062</li><li>rs12210538</li>	2
Q86VW2	115557	<ul><li>C->Y at 253: in dbSNP:rs17857333<li>G->R at 397: in dbSNP:rs17854492<li>Q->R at 506: in dbSNP:rs1564374</ul>									<li>rs17857333</li><li>rs1564374</li><li>rs17854492</li>	2
Q86VY4	85453	<ul><li>T->S at 120: in dbSNP:rs2635164<li>I->V at 365: in dbSNP:rs17854366</ul>									<li>rs17854366</li><li>rs2635164</li>	2
Q86VZ4	84918	<ul><li>P->R at 92: in dbSNP:rs9322225<li>R->H at 351: in dbSNP:rs17854254</ul>									<li>rs17854254</li><li>rs9322225</li>	2
Q86W10	199974	<ul><li>P->L at 393: in dbSNP:rs28463559</ul>									rs28463559	2
Q86W24	338323	<ul><li>E->K at 21: in dbSNP:rs11041150<li>N->T at 48: in dbSNP:rs12801277<li>R->E at 55: requires 2 nucleotide substitutions<li>D->V at 86: associated with spermatogenic failure<li>K->R at 92: in dbSNP:rs16921697<li>S->L at 98<li>A->T at 375: associated with spermatogenic failure<li>T->I at 397<li>V->M at 441<li>L->F at 511: in dbSNP:rs11041151<li>D->Q at 522: associated with spermatogenic failure; requires 2 nucleotide substitutions<li>S->C at 779: in a breast cancer sample; somatic mutation<li>E->K at 808: in dbSNP:rs10839708<li>S->T at 951<li>L->S at 954<li>L->F at 1010: in dbSNP:rs17280682<li>M->I at 1019: associated with spermatogenic failure</ul>									<li>rs12801277</li><li>rs10839708</li><li>rs17280682</li><li>rs16921697</li><li>rs11041151</li><li>rs11041150</li>	2
Q86W25	126204	<ul><li>Q->R at 247: in dbSNP:rs303997<li>N->S at 781: in dbSNP:rs17711239</ul>									<li>rs303997</li><li>rs17711239</li>	2
Q86W28	126205	<ul><li>P->L at 25: in dbSNP:rs306507<li>V->L at 116: in dbSNP:rs306506<li>P->R at 126: in a breast cancer sample; somatic mutation<li>A->T at 234: in dbSNP:rs11880691<li>Q->R at 268: in dbSNP:rs7259764<li>Q->E at 367: in dbSNP:rs11880748<li>E->V at 375: in a breast cancer sample; somatic mutation<li>A->V at 543: in dbSNP:rs41391053<li>R->W at 651: in dbSNP:rs41481648<li>V->A at 782: in dbSNP:rs306496<li>K->R at 937: in dbSNP:rs306481<li>Q->L at 1045: in a colorectal cancer sample; somatic mutation</ul>									<li>rs306496</li><li>rs306506</li><li>rs306507</li><li>rs41481648</li><li>rs41391053</li><li>rs11880691</li><li>rs7259764</li><li>rs306481</li><li>rs11880748</li>	2
Q86W34	51321	<ul><li>D->N at 30: in dbSNP:rs3213690<li>H->Q at 146: in dbSNP:rs3207194</ul>									<li>rs3213690</li><li>rs3207194</li>	2
Q86W47	27345	<ul><li>V->I at 199</ul>										2
Q86W50	79066	<ul><li>N->S at 479: in dbSNP:rs17834783</ul>									rs17834783	2
Q86W67	653140	<ul><li>Y->C at 140: in dbSNP:rs2288073</ul>									rs2288073	2
Q86W92	8496	<ul><li>V->L at 148: in dbSNP:rs2194816</ul>									rs2194816	2
Q86WB0	51530	<ul><li>T->A at 271: in dbSNP:rs1464890<li>R->H at 363: in dbSNP:rs11556924</ul>									<li>rs1464890</li><li>rs11556924</li>	2
Q86WB7	54346	<ul><li>R->K at 6: in dbSNP:rs36110805<li>K->Q at 128: in dbSNP:rs35313366<li>V->I at 292: in dbSNP:rs2072767<li>V->M at 295: in dbSNP:rs4708771<li>Y->H at 387: in dbSNP:rs663227<li>M->T at 403: in dbSNP:rs663606<li>V->I at 409: in dbSNP:rs7739897<li>V->A at 445</ul>									<li>rs7739897</li><li>rs2072767</li><li>rs663227</li><li>rs35313366</li><li>rs36110805</li><li>rs663606</li><li>rs4708771</li>	2
Q86WC4	28962	<ul><li>L->F at 52: in dbSNP:rs9480830</ul>									rs9480830	2
Q86WD7	327657	<ul><li>A->V at 24: in dbSNP:rs4905204<li>P->L at 218: in dbSNP:rs17090921<li>H->Q at 236: in dbSNP:rs28583900<li>R->I at 292: in dbSNP:rs28618118<li>V->A at 330: in dbSNP:rs11628722</ul>									<li>rs28583900</li><li>rs17090921</li><li>rs4905204</li><li>rs11628722</li><li>rs28618118</li>	2
Q86WG3	85300	<ul><li>S->R at 301: in ATCAY, MIM: 601238</ul>							<li>Q86WG3</li><li>Q9GKT0</li>	Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]		2
Q86WG5	81846	<ul><li>P->L at 303: in dbSNP:rs16907355<li>E->K at 679: in dbSNP:rs7102464<li>Q->E at 1216: in dbSNP:rs12574508</ul>									<li>rs12574508</li><li>rs16907355</li><li>rs7102464</li>	2
Q86WH2	283349	<ul><li>R->H at 232</ul>										2
Q86WI1	93035	<ul><li>W->C at 373: in dbSNP:rs16879428<li>Y->H at 440: in dbSNP:rs964307<li>H->R at 923: in dbSNP:rs4735133<li>Y->H at 943: in dbSNP:rs16879534<li>A->E at 957: in dbSNP:rs35375999<li>T->A at 1192: in dbSNP:rs10093885<li>R->S at 1514: in dbSNP:rs1673408<li>T->R at 1539: in dbSNP:rs7820062<li>L->V at 1965: in dbSNP:rs1673407<li>H->Q at 3050: in dbSNP:rs1783147<li>V->I at 3080: in dbSNP:rs10441509<li>I->V at 3411: in dbSNP:rs16879659<li>D->E at 3607: in dbSNP:rs9774677<li>L->F at 3862: in dbSNP:rs16879693<li>V->I at 4220: in dbSNP:rs1783174</ul>									<li>rs1783174</li><li>rs1673407</li><li>rs964307</li><li>rs1673408</li><li>rs16879659</li><li>rs16879693</li><li>rs1783147</li><li>rs16879534</li><li>rs7820062</li><li>rs10093885</li><li>rs35375999</li><li>rs16879428</li><li>rs9774677</li><li>rs4735133</li><li>rs10441509</li>	2
Q86WI3	84166	<ul><li>S->L at 210: in dbSNP:rs16965150<li>M->I at 361: in a breast cancer sample; somatic mutation<li>P->L at 453: in dbSNP:rs9938543<li>C->R at 500: in dbSNP:rs28438857<li>S->N at 833: in dbSNP:rs35534915<li>Q->K at 1105: in dbSNP:rs289723<li>V->A at 1455: in dbSNP:rs7190199<li>Q->R at 1466: in dbSNP:rs7185320</ul>									<li>rs289723</li><li>rs7190199</li><li>rs7185320</li><li>rs28438857</li><li>rs35534915</li><li>rs9938543</li><li>rs16965150</li>	2
Q86WJ1	9557	<ul><li>R->P at 25: in dbSNP:rs11588753<li>H->Q at 350: in dbSNP:rs17356233<li>E->A at 649: in dbSNP:rs13374920<li>S->C at 743: in dbSNP:rs2275249<li>S->A at 885: in dbSNP:rs4950394</ul>									<li>rs2275249</li><li>rs4950394</li><li>rs11588753</li><li>rs17356233</li><li>rs13374920</li>	2
Q86WK9	164091	<ul><li>G->R at 272: in dbSNP:rs6689014</ul>									rs6689014	2
Q86WN1	89848	<ul><li>N->K at 344: in dbSNP:rs3749760<li>P->L at 681: in dbSNP:rs32957</ul>									<li>rs3749760</li><li>rs32957</li>	2
Q86WN2	338376	<ul><li>Q->H at 46: in dbSNP:rs1125488</ul>									rs1125488	2
Q86WP2	65056	<ul><li>R->G at 122: in dbSNP:rs1862171</ul>									rs1862171	2
Q86WR7	254427	<ul><li>A->V at 412: in dbSNP:rs12253554</ul>									rs12253554	2
Q86WS5	283471	<ul><li>Y->H at 19: in dbSNP:rs10876100<li>K->E at 62: in dbSNP:rs829121<li>A->T at 127: in dbSNP:rs861204</ul>									<li>rs829121</li><li>rs861204</li><li>rs10876100</li>	2
Q86WT1	92104	<ul><li>V->I at 446: in dbSNP:rs28630685<li>K->R at 577: in dbSNP:rs17854236</ul>									<li>rs17854236</li><li>rs28630685</li>	2
Q86WT6	140691	<ul><li>V->A at 31: in dbSNP:rs3759880</ul>									rs3759880	2
Q86WU2	197257	<ul><li>R->K at 233: in dbSNP:rs11644820</ul>									rs11644820	2
Q86WV1	8631	<ul><li>S->G at 161: in dbSNP:rs2278868<li>S->G at 242: in dbSNP:rs35288886</ul>									<li>rs2278868</li><li>rs35288886</li>	2
Q86WV6	340061	<ul><li>R->H at 71: in dbSNP:rs11554776<li>H->R at 232: in dbSNP:rs1131769<li>R->Q at 293: in dbSNP:rs7380824</ul>									<li>rs7380824</li><li>rs11554776</li><li>rs1131769</li>	2
Q86WX3	91582	<ul><li>E->A at 124: in dbSNP:rs17001278</ul>									rs17001278	2
Q86WZ0	399671	<ul><li>L->H at 587: in dbSNP:rs12894435<li>W->G at 596: in dbSNP:rs12894425<li>V->A at 613: in dbSNP:rs12894400</ul>									<li>rs12894435</li><li>rs12894400</li><li>rs12894425</li>	2
Q86X02	30850	<ul><li>D->E at 300: in dbSNP:rs36057512</ul>									rs36057512	2
Q86X19	200728	<ul><li>G->S at 26: in dbSNP:rs17854454</ul>									rs17854454	2
Q86X24	84072	<ul><li>T->I at 267: in dbSNP:rs1336900</ul>									rs1336900	2
Q86X27	55103	<ul><li>N->S at 225: in dbSNP:rs35161510</ul>									rs35161510	2
Q86X29	51599	<ul><li>S->N at 363: in dbSNP:rs34259399</ul>									rs34259399	2
Q86X40	123355	<ul><li>R->H at 168: in dbSNP:rs11857384</ul>									rs11857384	2
Q86X45	23639	<ul><li>T->I at 232: in dbSNP:rs2293979<li>I->T at 466: in dbSNP:rs9297853</ul>									<li>rs9297853</li><li>rs2293979</li>	2
Q86X51	340602	<ul><li>R->K at 470: in dbSNP:rs1875755</ul>									rs1875755	2
Q86X52	22856	<ul><li>P->S at 359: in dbSNP:rs3743193<li>Q->H at 652: in dbSNP:rs4426333</ul>									<li>rs3743193</li><li>rs4426333</li>	2
Q86X53	157697	<ul><li>L->F at 365: in a colorectal cancer sample; somatic mutation<li>R->S at 403: in dbSNP:rs1703879</ul>									rs1703879	2
Q86X59	388407	<ul><li>P->L at 186: in dbSNP:rs9907379</ul>									rs9907379	2
Q86X60	653820	<ul><li>G->V at 82: in dbSNP:rs17838150<li>P->L at 94: in dbSNP:rs1572701</ul>									<li>rs17838150</li><li>rs1572701</li>	2
Q86X67	25961	<ul><li>G->D at 81: in dbSNP:rs34284214<li>M->V at 273: in dbSNP:rs17658872</ul>									<li>rs34284214</li><li>rs17658872</li>	2
Q86X83	51122	<ul><li>I->L at 113: in dbSNP:rs9843784<li>Q->H at 177: in dbSNP:rs1546732</ul>									<li>rs9843784</li><li>rs1546732</li>	2
Q86XA0	124512	<ul><li>L->V at 141: in dbSNP:rs12602772</ul>									rs12602772	2
Q86XD5	9715	<ul><li>A->T at 307: in dbSNP:rs17854363</ul>									rs17854363	2
Q86XD8	93550	<ul><li>K->T at 118: in dbSNP:rs17854567<li>H->Y at 358: in dbSNP:rs12267385</ul>									<li>rs12267385</li><li>rs17854567</li>	2
Q86XE0	254122	<ul><li>H->N at 155: in dbSNP:rs17854065<li>A->V at 282: in dbSNP:rs17855647<li>S->Y at 354: in dbSNP:rs17857243</ul>									<li>rs17857243</li><li>rs17854065</li><li>rs17855647</li>	2
Q86XH1	79781	<ul><li>K->R at 452: in dbSNP:rs10204742</ul>									rs10204742	2
Q86XI2	54892	<ul><li>T->M at 794: in dbSNP:rs10248318<li>E->D at 867: in dbSNP:rs3214000</ul>									<li>rs3214000</li><li>rs10248318</li>	2
Q86XI6	79660	<ul><li>G->E at 48: in dbSNP:rs3748140</ul>									rs3748140	2
Q86XJ1	283431	<ul><li>L->S at 461: in dbSNP:rs11834625<li>P->T at 500: in dbSNP:rs17030365</ul>									<li>rs17030365</li><li>rs11834625</li>	2
Q86XK2	80204	<ul><li>T->S at 126: in dbSNP:rs17036993</ul>									rs17036993	2
Q86XK3	119392	<ul><li>D->G at 81: in dbSNP:rs10786783</ul>									rs10786783	2
Q86XK7	340547	<ul><li>V->I at 147: in dbSNP:rs17254305</ul>									rs17254305	2
Q86XL3	23141	<ul><li>Y->H at 122: in dbSNP:rs1132375<li>Q->E at 148: in dbSNP:rs7968520<li>H->R at 720: in dbSNP:rs10781634</ul>									<li>rs7968520</li><li>rs1132375</li><li>rs10781634</li>	2
Q86XM0	257062	<ul><li>T->A at 504: in dbSNP:rs17854252<li>T->S at 743: in dbSNP:rs2305925</ul>									<li>rs17854252</li><li>rs2305925</li>	2
Q86XN6	388561	<ul><li>S->I at 122: in dbSNP:rs2708743<li>I->V at 168: in dbSNP:rs1984432<li>S->G at 528: in dbSNP:rs2708742<li>Q->E at 603: in dbSNP:rs2617726</ul>									<li>rs2708742</li><li>rs2708743</li><li>rs2617726</li><li>rs1984432</li>	2
Q86XN7	80209	<ul><li>V->A at 571: in dbSNP:rs3751379<li>S->T at 847: in dbSNP:rs17058955</ul>									<li>rs17058955</li><li>rs3751379</li>	2
Q86XP0	283748	<ul><li>R->W at 573: in dbSNP:rs17747505<li>A->G at 649: in dbSNP:rs17690899<li>R->G at 747: in dbSNP:rs2459692</ul>									<li>rs17690899</li><li>rs17747505</li><li>rs2459692</li>	2
Q86XP1	160851	<ul><li>V->A at 1201: in dbSNP:rs17646069</ul>									rs17646069	2
Q86XP6	200504	<ul><li>S->N at 113: in dbSNP:rs1128272</ul>									rs1128272	2
Q86XQ3	347732	<ul><li>N->K at 204: in dbSNP:rs3896260</ul>									rs3896260	2
Q86XR2	199786	<ul><li>T->I at 229: in dbSNP:rs8107859<li>L->F at 543: in dbSNP:rs10401716<li>G->S at 603: in dbSNP:rs11666267</ul>									<li>rs8107859</li><li>rs10401716</li><li>rs11666267</li>	2
Q86XR5	145270	<ul><li>A->V at 22: in a colorectal cancer sample; somatic mutation</ul>										2
Q86XT4	135892	<ul><li>L->P at 8: in dbSNP:rs6980124</ul>									rs6980124	2
Q86XU0	342926	<ul><li>D->N at 56: in dbSNP:rs11881131<li>G->E at 254: in dbSNP:rs10425706</ul>									<li>rs11881131</li><li>rs10425706</li>	2
Q86Y07	7444	<ul><li>N->D at 50: in dbSNP rsrs34130684<li>I->M at 157: in dbSNP rsrs35966666<li>I->V at 167: in dbSNP:rs1051061<li>N->S at 211: in dbSNP:rs36081172</ul>									<li>rs1051061</li><li>rs35966666</li><li>rs36081172</li><li>rs34130684</li>	2
Q86Y22	91522	<ul><li>T->A at 287: in dbSNP:rs890802</ul>									rs890802	2
Q86Y25	30832	<ul><li>E->K at 250: in dbSNP:rs17855823<li>F->L at 546: in dbSNP:rs1445846<li>E->K at 553: in dbSNP:rs1445845</ul>									<li>rs1445845</li><li>rs1445846</li><li>rs17855823</li>	2
Q86Y26	256646	<ul><li>L->P at 22: in dbSNP:rs374230<li>T->M at 781: in dbSNP:rs16959028<li>V->E at 785: in dbSNP:rs17236868<li>T->N at 973: in dbSNP:rs2279683<li>P->R at 985: in dbSNP:rs2279684<li>R->H at 1113: in dbSNP:rs2279685</ul>									<li>rs2279683</li><li>rs2279684</li><li>rs17236868</li><li>rs374230</li><li>rs2279685</li><li>rs16959028</li>	2
Q86Y33	166979	<ul><li>T->P at 8: in dbSNP:rs173042<li>E->K at 17: in dbSNP:rs423074<li>T->S at 97: in dbSNP:rs34132993<li>C->R at 121: in dbSNP:rs1021580<li>A->S at 496: in dbSNP:rs3104230<li>R->W at 503: in dbSNP:rs444527</ul>									<li>rs3104230</li><li>rs423074</li><li>rs34132993</li><li>rs444527</li><li>rs173042</li><li>rs1021580</li>	2
Q86Y38	64131	<ul><li>P->R at 325: in dbSNP:rs28709752<li>P->A at 766: in dbSNP:rs12325439<li>V->I at 839: in dbSNP:rs7200466<li>R->Q at 892: in dbSNP:rs35309694</ul>									<li>rs12325439</li><li>rs35309694</li><li>rs7200466</li><li>rs28709752</li>	2
Q86Y46	319101	<ul><li>V->M at 61: in dbSNP:rs35417182<li>P->L at 96: in dbSNP:rs659436<li>R->H at 212: in a colorectal cancer sample; somatic mutation<li>T->M at 248: in a colorectal cancer sample; somatic mutation<li>E->G at 365: in dbSNP:rs607426</ul>									<li>rs659436</li><li>rs607426</li><li>rs35417182</li>	2
Q86Y82	23673	<ul><li>P->R at 88: in a breast cancer sample; somatic mutation</ul>										2
Q86Y91		<ul><li>Q->R at 518: in dbSNP:rs17546822</ul>									rs17546822	2
Q86YA3	55345	<ul><li>N->S at 410: in dbSNP:rs7696816<li>E->G at 451: in dbSNP:rs17854334<li>T->I at 978: in dbSNP:rs17669218</ul>									<li>rs17854334</li><li>rs7696816</li><li>rs17669218</li>	2
Q86YB7	55268	<ul><li>N->D at 119: in dbSNP:rs17854314</ul>									rs17854314	2
Q86YB8	56605	<ul><li>D->V at 129: in dbSNP:rs2477599<li>H->Q at 465: in dbSNP:rs1055851</ul>									<li>rs1055851</li><li>rs2477599</li>	2
Q86YC2	79728	<ul><li>I->V at 309: in dbSNP:rs3809683<li>P->S at 864: in dbSNP rsrs45568339</ul>									<li>rs3809683</li><li>rs45568339</li>	2
Q86YD3	84866	<ul><li>W->C at 25: in dbSNP:rs35915434<li>Q->R at 342: in dbSNP:rs12289253</ul>									<li>rs12289253</li><li>rs35915434</li>	2
Q86YE8	126231	<ul><li>G->A at 166: in dbSNP:rs3752365</ul>									rs3752365	2
Q86YF9	22873	<ul><li>T->M at 172: in dbSNP:rs9561921<li>M->L at 664: in dbSNP:rs34303958<li>P->S at 736: in dbSNP:rs11070136</ul>									<li>rs9561921</li><li>rs11070136</li><li>rs34303958</li>	2
Q86YH2		<ul><li>A->E at 256: in dbSNP:rs2236729<li>V->G at 522: in dbSNP:rs12484816</ul>									<li>rs12484816</li><li>rs2236729</li>	2
Q86YH6	57107	<ul><li>F->L at 3: in dbSNP:rs3734675</ul>									rs3734675	2
Q86YJ5	92979	<ul><li>Q->H at 257: in dbSNP:rs17856312<li>T->P at 307: in dbSNP:rs17850517</ul>									<li>rs17856312</li><li>rs17850517</li>	2
Q86YL7	10630	<ul><li>A->G at 105: in dbSNP:rs2486188<li>A->G at 147</ul>									rs2486188	2
Q86YN6	133522	<ul><li>A->P at 203: in dbSNP:rs7732671<li>R->Q at 265: in dbSNP rsrs45520937<li>V->I at 279: in dbSNP:rs17572019<li>R->S at 292: in dbSNP:rs11959820</ul>									<li>rs11959820</li><li>rs7732671</li><li>rs45520937</li><li>rs17572019</li>	2
Q86YR6		<ul><li>S->G at 113: in dbSNP:rs6517869<li>V->I at 135: in dbSNP:rs6517870</ul>									<li>rs6517869</li><li>rs6517870</li>	2
Q86YR7	23101	<ul><li>T->M at 159: in dbSNP:rs12632177<li>L->P at 254: in a colorectal cancer sample; somatic mutation<li>N->S at 277: in dbSNP:rs13082605<li>I->L at 359: in dbSNP:rs7639705<li>Q->L at 378: in dbSNP:rs2293203<li>F->S at 589: in dbSNP:rs3732602<li>R->H at 622: in a colorectal cancer sample; somatic mutation<li>F->L at 772: in dbSNP:rs9826325<li>A->T at 902: in dbSNP:rs6804951<li>M->T at 1015: in dbSNP:rs35070271<li>L->F at 1039: in a breast cancer sample; somatic mutation</ul>									<li>rs6804951</li><li>rs13082605</li><li>rs2293203</li><li>rs35070271</li><li>rs9826325</li><li>rs7639705</li><li>rs12632177</li><li>rs3732602</li>	2
Q86YT9	120425	<ul><li>I->N at 94: in dbSNP:rs17121881<li>V->A at 193: in dbSNP:rs1793174<li>I->M at 322: in dbSNP:rs2298831</ul>									<li>rs17121881</li><li>rs2298831</li><li>rs1793174</li>	2
Q86YV5		<ul><li>L->I at 122<li>R->G at 137<li>V->I at 139<li>Q->R at 404<li>L->P at 569<li>C->S at 578<li>P->A at 595<li>P->T at 662<li>P->L at 814<li>H->R at 851<li>S->L at 1003<li>V->M at 1041<li>T->A at 1113<li>R->H at 1315</ul>										2
Q86YV6	340156	<ul><li>E->Q at 30: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>E->A at 39: in dbSNP:rs7770402<li>G->R at 50: in dbSNP:rs2296356<li>A->S at 78: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>T->M at 126: in dbSNP:rs34953021<li>H->L at 217: in a lung squamous cell carcinoma sample; somatic mutation<li>C->Y at 318: in dbSNP rsrs35609073<li>Q->R at 373: in dbSNP rsrs35211631</ul>									<li>rs35609073</li><li>rs34953021</li><li>rs35211631</li><li>rs7770402</li><li>rs2296356</li>	2
Q86YW0	89869	<ul><li>S->L at 500: in dbSNP:rs10505830</ul>									rs10505830	2
Q86YW5	340205	<ul><li>L->V at 6: in a breast cancer sample; somatic mutation<li>H->P at 231: in dbSNP:rs34254490</ul>									rs34254490	2
Q86YW9	116931	<ul><li>Q->P at 401: in dbSNP:rs17290219<li>E->K at 464: in dbSNP:rs3108728<li>Q->H at 903: in dbSNP:rs2131100<li>R->Q at 1210: in dbSNP:rs3732765<li>R->Q at 1698: in dbSNP:rs2276761</ul>									<li>rs3108728</li><li>rs2131100</li><li>rs3732765</li><li>rs2276761</li><li>rs17290219</li>	2
Q86YZ3	388697	<ul><li>R->H at 85: in dbSNP:rs11204937<li>G->D at 167: in dbSNP:rs12741518<li>E->G at 473: in dbSNP:rs6587648<li>G->R at 492: in dbSNP:rs6587647<li>R->Q at 664: in dbSNP:rs7520249<li>S->T at 799: in dbSNP:rs6662450</ul>									<li>rs6662450</li><li>rs11204937</li><li>rs7520249</li><li>rs6587647</li><li>rs6587648</li><li>rs12741518</li>	2
Q86Z02	204851	<ul><li>Q->R at 6: in dbSNP:rs35324789<li>G->C at 310: in dbSNP rsrs34335651<li>L->V at 1165</ul>									<li>rs35324789</li><li>rs34335651</li>	2
Q86Z14	152831	<ul><li>R->Q at 728: in dbSNP:rs17618244<li>A->V at 747: in dbSNP:rs35372803<li>Y->H at 906: in dbSNP:rs17618262<li>Q->K at 1020: in dbSNP:rs4975017</ul>									<li>rs4975017</li><li>rs35372803</li><li>rs17618262</li><li>rs17618244</li>	2
Q86Z20	202243	<ul><li>V->M at 13: in dbSNP:rs10471774</ul>									rs10471774	2
Q8HWS3	222546	<ul><li>E->K at 6: in dbSNP:rs17853900<li>T->A at 688: in dbSNP:rs17857184<li>S->N at 743: in dbSNP:rs582803</ul>									<li>rs582803</li><li>rs17857184</li><li>rs17853900</li>	2
Q8IU54	282618	<ul><li>N->D at 188: in dbSNP:rs30461</ul>									rs30461	2
Q8IU68	147138	<ul><li>N->I at 306: in dbSNP:rs7208422<li>V->I at 501: in dbSNP:rs11651675</ul>									<li>rs11651675</li><li>rs7208422</li>	2
Q8IU80	164656	<ul><li>R->H at 223: in a breast cancer sample; somatic mutation<li>R->S at 234: in a breast cancer sample; somatic mutation<li>K->E at 253: in dbSNP:rs2235324<li>E->K at 262: in dbSNP:rs2235324<li>S->L at 288: in dbSNP:rs5995378<li>G->R at 442: in IRIDA, MIM: 206200<li>D->N at 521: in IRIDA, MIM: 206200<li>V->A at 736: in dbSNP:rs855791, MIM: 206200<li>G->D at 763: in dbSNP:rs11703011, MIM: 206200<li>R->C at 774: in IRIDA, MIM: 206200</ul>								Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	<li>rs5995378</li><li>rs855791</li><li>rs11703011</li><li>rs2235324</li>	2
Q8IU81	26145	<ul><li>M->I at 24: in dbSNP:rs11550349</ul>									rs11550349	2
Q8IU85	57118	<ul><li>I->M at 66: in dbSNP:rs34194224</ul>									rs34194224	2
Q8IU89	204219	<ul><li>G->R at 370: in dbSNP:rs2439928</ul>									rs2439928	2
Q8IU99	255022	<ul><li>L->P at 86: in dbSNP:rs2986017</ul>									rs2986017	2
Q8IUA0	90199	<ul><li>M->T at 96: in dbSNP:rs2272955<li>N->S at 137: in dbSNP:rs2250860</ul>									<li>rs2250860</li><li>rs2272955</li>	2
Q8IUA7	10350	<ul><li>R->H at 353: in dbSNP:rs1860447<li>N->S at 785: in dbSNP:rs17684521<li>K->T at 1306: in dbSNP:rs2302294<li>G->S at 1356: in dbSNP:rs9916254</ul>									<li>rs17684521</li><li>rs1860447</li><li>rs2302294</li><li>rs9916254</li>	2
Q8IUB2	140686	<ul><li>H->D at 36: in dbSNP:rs6032538</ul>									rs6032538	2
Q8IUB3	280664	<ul><li>L->P at 8: in dbSNP:rs232729</ul>									rs232729	2
Q8IUC1	337880	<ul><li>C->S at 111: in dbSNP:rs9636845</ul>									rs9636845	2
Q8IUC6	148022	<ul><li>M->I at 46: in a breast cancer sample; somatic mutation<li>R->C at 75: in dbSNP:rs11466719<li>L->V at 275: in dbSNP:rs11466721<li>A->T at 666: in dbSNP:rs11466724</ul>									<li>rs11466719</li><li>rs11466721</li><li>rs11466724</li>	2
Q8IUC8	114805	<ul><li>E->D at 59: in dbSNP:rs34086479</ul>									rs34086479	2
Q8IUD2	23085	<ul><li>S->G at 50: in dbSNP:rs35037408<li>T->A at 1032: in dbSNP:rs12319376</ul>									<li>rs12319376</li><li>rs35037408</li>	2
Q8IUD6	84282	<ul><li>H->Q at 71: in dbSNP:rs7225888<li>S->P at 108: in dbSNP:rs7211440<li>R->H at 286: in RNF135-related overgrowth syndrome</ul>									<li>rs7225888</li><li>rs7211440</li>	2
Q8IUE1	90316	<ul><li>V->I at 197: in dbSNP:rs2290380</ul>									rs2290380	2
Q8IUE6	317772	<ul><li>A->T at 53: in a breast cancer sample; somatic mutation</ul>										2
Q8IUF8	84864	<ul><li>A->P at 17: in dbSNP:rs35391656<li>A->T at 386: in dbSNP:rs2172257</ul>									<li>rs2172257</li><li>rs35391656</li>	2
Q8IUG1	81850	<ul><li>C->S at 34<li>Missing  at 41-50: in allele KAP1.1<li>Missing  at 53-88: in allele KAP1.9<li>G->R at 92</ul>							<li>Q8IUG1</li><li>Q07627</li>			2
Q8IUG5	84700	<ul><li>G->V at 234: in lung small cell carcinoma; somatic mutation<li>K->N at 347: in lung small cell carcinoma; somatic mutation<li>R->Q at 379: in lung small cell carcinoma; somatic mutation<li>W->C at 389: in lung adenocarcinoma; somatic mutation<li>T->M at 590: in lung large cell carcinoma; somatic mutation<li>R->W at 661: in lung adenocarcinoma; somatic mutation: in dbSNP rsrs5761170<li>A->G at 835: in lung squamous cell carcinoma; somatic mutation<li>R->L at 1095: in lung adenocarcinoma; somatic mutation<li>R->Q at 1195: in lung small cell carcinoma; somatic mutation<li>P->Q at 1238: in lung large cell carcinoma; somatic mutation<li>P->T at 1238: in lung adenocarcinoma; somatic mutation<li>E->K at 1708: in lung adenocarcinoma; somatic mutation<li>E->D at 1715: in lung adenocarcinoma; somatic mutation<li>A->E at 1970: in lung small cell carcinoma; somatic mutation<li>G->C at 2295: in lung small cell carcinoma; somatic mutation<li>Q->R at 2347: in dbSNP:rs2236005<li>R->H at 2381: in lung adenocarcinoma; somatic mutation<li>D->E at 2554: in lung large cell carcinoma; somatic mutation</ul>									<li>rs5761170</li><li>rs2236005</li>	2
Q8IUH2	200407	<ul><li>P->Q at 96: in dbSNP:rs11554173</ul>									rs11554173	2
Q8IUH4	54503	<ul><li>R->K at 99: in dbSNP:rs2271001</ul>									rs2271001	2
Q8IUH5	23390	<ul><li>N->S at 383: in dbSNP:rs33996476</ul>									rs33996476	2
Q8IUH8		<ul><li>R->Q at 123: in dbSNP:rs17763658<li>H->R at 303: in dbSNP:rs242944<li>R->P at 461: in dbSNP:rs12185233<li>I->V at 471: in dbSNP:rs12185268<li>S->P at 601: in dbSNP:rs12373123<li>G->R at 620: in dbSNP:rs12373139<li>P->R at 643: in dbSNP:rs12373142</ul>									<li>rs12373142</li><li>rs12185233</li><li>rs12373123</li><li>rs242944</li><li>rs17763658</li><li>rs12185268</li><li>rs12373139</li>	2
Q8IUI8	51379	<ul><li>V->M at 202: in dbSNP:rs3764418<li>L->P at 389: in dbSNP:rs11867457</ul>									<li>rs11867457</li><li>rs3764418</li>	2
Q8IUN9	10462	<ul><li>C->R at 35: in dbSNP:rs90951<li>R->K at 73: in dbSNP:rs16956478<li>T->M at 100: in dbSNP:rs35318160<li>A->G at 203: in dbSNP:rs35101468</ul>									<li>rs16956478</li><li>rs35318160</li><li>rs35101468</li><li>rs90951</li>	2
Q8IUR0	126003	<ul><li>S->A at 52: in dbSNP:rs6952</ul>									rs6952	2
Q8IUR5	83857	<ul><li>L->V at 706: in dbSNP:rs17854190</ul>									rs17854190	2
Q8IUR6	153222	<ul><li>T->A at 483: in dbSNP:rs17854147</ul>									rs17854147	2
Q8IUS5	253152	<ul><li>Y->F at 321: in dbSNP:rs17854127</ul>									rs17854127	2
Q8IUX1	55863	<ul><li>A->V at 198: in dbSNP:rs17850847</ul>									rs17850847	2
Q8IUX4	200316	<ul><li>R->P at 48: in dbSNP:rs35053197<li>Q->L at 61: in dbSNP:rs2076109<li>P->L at 97: in dbSNP:rs2076110<li>A->S at 108: in dbSNP:rs2020390<li>A->T at 178: in dbSNP rsrs34182094<li>V->I at 231: in dbSNP:rs2076101<li>Y->C at 307: in dbSNP:rs12157816</ul>									<li>rs35053197</li><li>rs2076109</li><li>rs12157816</li><li>rs2076110</li><li>rs34182094</li><li>rs2020390</li><li>rs2076101</li>	2
Q8IUX7	165	<ul><li>P->T at 273: in dbSNP:rs2537188<li>D->E at 648: in dbSNP:rs11770649<li>P->L at 1001: in dbSNP:rs4724285<li>K->E at 1133: in dbSNP:rs13928<li>V->I at 1148: in dbSNP:rs13898</ul>									<li>rs11770649</li><li>rs2537188</li><li>rs4724285</li><li>rs13898</li><li>rs13928</li>	2
Q8IUX8	25975	<ul><li>E->K at 66: in dbSNP:rs16979010<li>R->C at 164: in dbSNP:rs34613284<li>L->F at 508: in dbSNP:rs34550481<li>D->N at 535: in dbSNP:rs16979033</ul>									<li>rs34613284</li><li>rs16979033</li><li>rs16979010</li><li>rs34550481</li>	2
Q8IUZ5	85007	<ul><li>H->R at 126: in dbSNP:rs7707147</ul>									rs7707147	2
Q8IV01	91683	<ul><li>N->H at 170: in dbSNP:rs11227664</ul>									rs11227664	2
Q8IV03	286343	<ul><li>Missing at 47-49<li>S->G at 62: in dbSNP:rs3750501</ul>									rs3750501	2
Q8IV13	79616	<ul><li>H->Y at 234: in dbSNP:rs13362036</ul>									rs13362036	2
Q8IV16	338328	<ul><li>C->F at 14: in dbSNP:rs11538389<li>G->R at 56: in polymorphism; no discernible effect on the binding of LPL, chylomicrons or APOA5</ul>			binding	GO:0005488	chylomicrons	GO:0042627	<li>P49923</li><li>P11602</li><li>Q6Q788</li><li>P06858</li><li>P49060</li><li>P55031</li><li>P11151</li><li>Q06000</li><li>P11152</li><li>P11153</li><li>Q29524</li><li>O46647</li>		rs11538389	2
Q8IV20	144811	<ul><li>I->V at 254: in dbSNP:rs3764147</ul>									rs3764147	2
Q8IV32	64925	<ul><li>Q->L at 317: in dbSNP:rs4955419<li>R->W at 339: in dbSNP:rs4955418</ul>									<li>rs4955419</li><li>rs4955418</li>	2
Q8IV33	285600	<ul><li>K->E at 46: in dbSNP:rs2044909</ul>									rs2044909	2
Q8IV35	151790	<ul><li>R->H at 10: in a colorectal cancer sample; somatic mutation<li>L->P at 651: in dbSNP:rs13060964</ul>									rs13060964	2
Q8IV42	118672	<ul><li>G->R at 206: in dbSNP:rs3736582</ul>									rs3736582	2
Q8IV45	222643	<ul><li>R->G at 432: in dbSNP:rs742493</ul>									rs742493	2
Q8IV48	90459	<ul><li>L->P at 16: in dbSNP:rs2288672</ul>									rs2288672	2
Q8IV50	256586	<ul><li>I->V at 107: in dbSNP:rs3751593<li>S->F at 164: in dbSNP:rs7168775</ul>									<li>rs7168775</li><li>rs3751593</li>	2
Q8IV53	79958	<ul><li>A->T at 23: in dbSNP:rs10416003<li>R->C at 489: in dbSNP:rs35001260<li>A->V at 542: in dbSNP:rs35810378</ul>									<li>rs35810378</li><li>rs35001260</li><li>rs10416003</li>	2
Q8IV61	25780	<ul><li>T->A at 393: in dbSNP:rs13388394</ul>									rs13388394	2
Q8IV63	51231	<ul><li>S->F at 59: in dbSNP:rs2033262<li>P->T at 105: in dbSNP:rs11547882<li>S->P at 170: in dbSNP:rs11547881<li>F->L at 171: in dbSNP:rs11547883<li>T->A at 188: in dbSNP:rs11879620<li>S->L at 268: in dbSNP:rs10410075<li>C->Y at 288: in dbSNP:rs10409482<li>H->L at 304: in dbSNP:rs35261919<li>R->C at 370: in dbSNP rsrs35331034<li>S->G at 371: in dbSNP rsrs56407496</ul>									<li>rs10410075</li><li>rs11547883</li><li>rs10409482</li><li>rs11547881</li><li>rs56407496</li><li>rs11547882</li><li>rs35331034</li><li>rs35261919</li><li>rs2033262</li><li>rs11879620</li>	2
Q8IV76	139135	<ul><li>Q->E at 213: in dbSNP:rs5924658</ul>									rs5924658	2
Q8IV77	1262	<ul><li>V->E at 553: in dbSNP:rs325706</ul>									rs325706	2
Q8IVB4	285195	<ul><li>I->V at 540: in dbSNP:rs16853300<li>I->V at 589: in dbSNP:rs2289491</ul>									<li>rs2289491</li><li>rs16853300</li>	2
Q8IVC4	201514	<ul><li>P->S at 142: in dbSNP:rs11668789<li>T->A at 301: in dbSNP:rs7257872</ul>									<li>rs11668789</li><li>rs7257872</li>	2
Q8IVD9	23386	<ul><li>T->P at 3: in dbSNP:rs307007<li>R->C at 235: in dbSNP:rs11550029</ul>									<li>rs307007</li><li>rs11550029</li>	2
Q8IVE3	130271	<ul><li>P->T at 481: in dbSNP:rs17031297<li>R->K at 1069: in dbSNP:rs2278358<li>N->S at 1217: in dbSNP:rs17031368</ul>									<li>rs2278358</li><li>rs17031297</li><li>rs17031368</li>	2
Q8IVF2	113146	<ul><li>T->A at 525: in dbSNP:rs2278607<li>V->M at 1266: in dbSNP:rs11850930<li>L->V at 1470: in dbSNP:rs12890949<li>M->V at 2107: in dbSNP:rs11846918<li>S->R at 2115: in dbSNP:rs2582514<li>K->R at 2410: in dbSNP:rs11845746<li>D->E at 2429: in dbSNP:rs11160826<li>L->V at 2430: in dbSNP:rs2819426<li>V->A at 2616: in dbSNP:rs4264326<li>V->L at 3796: in dbSNP:rs12890949<li>M->V at 3961: in dbSNP:rs10141053<li>I->M at 4071: in dbSNP:rs2582511<li>F->L at 4138: in dbSNP:rs2582505<li>K->N at 4232: in dbSNP:rs2819423<li>V->A at 4278: in dbSNP:rs2819422<li>M->L at 4536: in dbSNP:rs9672139<li>T->A at 4664: in dbSNP:rs4465542<li>L->M at 5028: in dbSNP:rs9672139<li>G->R at 5072: in dbSNP:rs2819420<li>Y->D at 5184: in dbSNP:rs2819419<li>P->A at 5397: in dbSNP:rs3742935<li>G->R at 5564: in dbSNP:rs2819420<li>T->M at 5732: in dbSNP:rs748358</ul>									<li>rs2819419</li><li>rs11845746</li><li>rs2278607</li><li>rs2819426</li><li>rs4264326</li><li>rs10141053</li><li>rs11846918</li><li>rs11850930</li><li>rs2819423</li><li>rs748358</li><li>rs2819422</li><li>rs2819420</li><li>rs11160826</li><li>rs2582505</li><li>rs9672139</li><li>rs4465542</li><li>rs2582514</li><li>rs12890949</li><li>rs3742935</li><li>rs2582511</li>	2
Q8IVF4		<ul><li>V->I at 480: in dbSNP:rs10846559</ul>									rs10846559	2
Q8IVF5	26230	<ul><li>R->H at 332: in dbSNP:rs931312<li>R->H at 913: in dbSNP:rs7770537<li>P->S at 1089: in dbSNP:rs4259257<li>R->C at 1101: in dbSNP:rs11751128<li>D->E at 1572: in dbSNP:rs1571767</ul>									<li>rs931312</li><li>rs11751128</li><li>rs4259257</li><li>rs7770537</li><li>rs1571767</li>	2
Q8IVG5	219285	<ul><li>V->I at 266: in dbSNP:rs10488532<li>F->S at 289: in dbSNP:rs2073793<li>G->A at 1137: in dbSNP:rs17165111<li>N->T at 1516: in dbSNP:rs10282508</ul>									<li>rs10488532</li><li>rs2073793</li><li>rs17165111</li><li>rs10282508</li>	2
Q8IVH2	116113	<ul><li>A->T at 464: in a breast cancer sample; somatic mutation</ul>										2
Q8IVH4	166785	<ul><li>L->P at 89: in MMAA, MIM: 251100<li>R->Q at 145: in MMAA, MIM: 251100<li>Y->C at 207: in MMAA, MIM: 251100<li>G->E at 218: in MMAA, MIM: 251100<li>R->G at 359: in MMAA, MIM: 251100<li>R->Q at 359: in MMAA, MIM: 251100<li>Q->H at 363: in dbSNP:rs2270655, MIM: 251100</ul>							<li>Q8IVH4</li><li>Q5MFW3</li>	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	rs2270655	2
Q8IVH8	8491	<ul><li>V->L at 200: in dbSNP rsrs35957290<li>H->Q at 424<li>T->S at 669: in a lung squamous cell carcinoma sample; somatic mutation</ul>									rs35957290	2
Q8IVI9	115677	<ul><li>E->G at 473: in dbSNP:rs479661</ul>									rs479661	2
Q8IVJ8	339883	<ul><li>H->Y at 107: in dbSNP:rs17266511</ul>									rs17266511	2
Q8IVL0	89795	<ul><li>A->T at 45: in dbSNP:rs10735309<li>S->W at 210: in dbSNP:rs34195711<li>E->K at 2200: in a patient with Sezary syndrome</ul>									<li>rs34195711</li><li>rs10735309</li>	2
Q8IVL1	89797	<ul><li>K->R at 109: in dbSNP:rs6483617<li>Q->H at 491: in dbSNP:rs16937251<li>E->D at 1041: in dbSNP:rs3802799<li>A->P at 1077: in dbSNP:rs3802800<li>V->I at 2374: in dbSNP:rs35891966</ul>									<li>rs35891966</li><li>rs3802799</li><li>rs6483617</li><li>rs16937251</li><li>rs3802800</li>	2
Q8IVL5	55214	<ul><li>D->N at 613: in a breast cancer sample; somatic mutation</ul>										2
Q8IVL6	10536	<ul><li>T->A at 301: in dbSNP:rs10744716<li>R->C at 304: in dbSNP:rs35359746<li>G->E at 385: in dbSNP:rs1047771<li>I->T at 685: in dbSNP:rs1129649<li>M->T at 705: in dbSNP:rs3213431</ul>									<li>rs1047771</li><li>rs10744716</li><li>rs3213431</li><li>rs1129649</li><li>rs35359746</li>	2
Q8IVL8	130749	<ul><li>M->I at 85: in dbSNP:rs13420911<li>S->R at 134: in dbSNP:rs11903403<li>K->N at 273: in a colorectal cancer sample; somatic mutation</ul>									<li>rs11903403</li><li>rs13420911</li>	2
Q8IVM0	152137	<ul><li>L->F at 121: in dbSNP:rs35380043<li>M->T at 156: in dbSNP:rs293813</ul>									<li>rs293813</li><li>rs35380043</li>	2
Q8IVM7		<ul><li>R->Q at 154: in dbSNP:rs9588286</ul>									rs9588286	2
Q8IVM8	114571	<ul><li>A->V at 393: in a breast cancer sample; somatic mutation<li>M->V at 487: in a breast cancer sample; somatic mutation<li>N->K at 521: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IVN8	157869	<ul><li>W->R at 186: in dbSNP:rs2291219</ul>									rs2291219	2
Q8IVS2	27349	<ul><li>A->G at 303: in dbSNP:rs13815</ul>									rs13815	2
Q8IVS8	132158	<ul><li>L->V at 170: in dbSNP:rs35130772<li>T->I at 394: in dbSNP:rs9813489</ul>									<li>rs35130772</li><li>rs9813489</li>	2
Q8IVT2	126353	<ul><li>S->G at 156: in dbSNP:rs3746173<li>K->R at 232: in dbSNP:rs3746175<li>S->N at 269: in dbSNP:rs35384259<li>E->G at 653: in dbSNP:rs8107847</ul>									<li>rs35384259</li><li>rs3746173</li><li>rs8107847</li><li>rs3746175</li>	2
Q8IVT5	8844	<ul><li>S->P at 225<li>V->A at 357<li>Q->H at 661</ul>										2
Q8IVU3	55008	<ul><li>M->T at 123: in dbSNP:rs7677237<li>C->R at 199: in dbSNP:rs12510688<li>F->L at 343: in dbSNP:rs17014118<li>T->I at 614: in dbSNP:rs6532068</ul>									<li>rs6532068</li><li>rs12510688</li><li>rs17014118</li><li>rs7677237</li>	2
Q8IVV8	128414	<ul><li>K->Q at 91: in dbSNP:rs1129659<li>A->D at 131: in dbSNP:rs2236194<li>C->G at 151: in dbSNP:rs872808<li>E->D at 173: in dbSNP:rs11556207</ul>									<li>rs872808</li><li>rs1129659</li><li>rs2236194</li><li>rs11556207</li>	2
Q8IVW1	51326	<ul><li>L->I at 170</ul>										2
Q8IVW4	51265	<ul><li>M->T at 394: in dbSNP rsrs35687772</ul>									rs35687772	2
Q8IVY1	149466	<ul><li>S->L at 12: in dbSNP:rs35465732</ul>									rs35465732	2
Q8IVY7		<ul><li>R->Q at 87: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IW00	196740	<ul><li>F->S at 68: in dbSNP:rs13088<li>R->H at 100: in a colorectal cancer sample; somatic mutation</ul>									rs13088	2
Q8IW19	200558	<ul><li>I->V at 100: in dbSNP:rs11902811<li>L->F at 336: in dbSNP:rs13404469</ul>									<li>rs11902811</li><li>rs13404469</li>	2
Q8IW41	8550	<ul><li>M->I at 67: in dbSNP rsrs34132040<li>R->K at 282: in dbSNP rsrs34843470</ul>									<li>rs34132040</li><li>rs34843470</li>	2
Q8IW45	55739	<ul><li>K->E at 140: in dbSNP:rs3742191<li>V->I at 149: in dbSNP:rs3742192<li>P->T at 152: in dbSNP:rs1044112</ul>									<li>rs3742192</li><li>rs3742191</li><li>rs1044112</li>	2
Q8IW52	139065	<ul><li>V->I at 206: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IW75	145264	<ul><li>Q->K at 142: in dbSNP:rs17090972<li>I->V at 394: in dbSNP:rs34519784</ul>									<li>rs34519784</li><li>rs17090972</li>	2
Q8IW93	128272	<ul><li>G->R at 163: in dbSNP:rs221058<li>E->Q at 238: in dbSNP:rs221057</ul>									<li>rs221058</li><li>rs221057</li>	2
Q8IWA4	55669	<ul><li>D->H at 415: in a colorectal cancer sample; somatic mutation<li>P->R at 523: in dbSNP:rs7637065</ul>									rs7637065	2
Q8IWA5	57153	<ul><li>R->Q at 154: in dbSNP:rs2288904</ul>									rs2288904	2
Q8IWA6	160777	<ul><li>I->V at 46: in dbSNP:rs1064319<li>T->A at 115: in dbSNP:rs2519540<li>V->I at 393: in dbSNP:rs16949292</ul>									<li>rs2519540</li><li>rs1064319</li><li>rs16949292</li>	2
Q8IWB6	56155	<ul><li>D->G at 88: in dbSNP rsrs56292204<li>K->E at 321: in a gastric adenocarcinoma sample; somatic mutation<li>S->C at 443<li>I->M at 559: in dbSNP rsrs35927726</ul>									<li>rs56292204</li><li>rs35927726</li>	2
Q8IWC1	79649	<ul><li>E->A at 502: in dbSNP:rs1055497<li>Q->R at 628: in dbSNP:rs2273221</ul>									<li>rs2273221</li><li>rs1055497</li>	2
Q8IWD4	150275	<ul><li>R->S at 147: in dbSNP:rs13057011<li>S->N at 272: in dbSNP:rs9613680</ul>									<li>rs9613680</li><li>rs13057011</li>	2
Q8IWD5	162387	<ul><li>R->H at 486: in dbSNP:rs2242373</ul>									rs2242373	2
Q8IWE2	92689	<ul><li>S->L at 40: in dbSNP:rs34137542<li>G->R at 84: in dbSNP:rs11096964<li>L->P at 116: in dbSNP:rs11944159<li>P->L at 201: in dbSNP:rs430296<li>R->H at 367: in dbSNP:rs2306923<li>V->I at 443: in dbSNP:rs17429619<li>S->L at 446: in dbSNP:rs36058104</ul>									<li>rs17429619</li><li>rs2306923</li><li>rs34137542</li><li>rs11944159</li><li>rs36058104</li><li>rs11096964</li><li>rs430296</li>	2
Q8IWE5	23207	<ul><li>I->T at 32: in dbSNP:rs12091750</ul>									rs12091750	2
Q8IWF2	80020	<ul><li>F->L at 179: in dbSNP:rs760718<li>N->S at 308: in dbSNP:rs2277841<li>K->R at 374: in dbSNP:rs35813894<li>E->D at 637: in dbSNP:rs35748020</ul>									<li>rs2277841</li><li>rs760718</li><li>rs35813894</li><li>rs35748020</li>	2
Q8IWF9	220047	<ul><li>T->A at 49: in dbSNP:rs12362209</ul>									rs12362209	2
Q8IWI9		<ul><li>T->A at 338: in dbSNP:rs3803348<li>S->T at 716: in dbSNP:rs2178004<li>C->R at 1270: in dbSNP:rs17677811<li>P->A at 1572: in dbSNP:rs17677991</ul>									<li>rs2178004</li><li>rs3803348</li><li>rs17677811</li><li>rs17677991</li>	2
Q8IWJ2	9648	<ul><li>Q->E at 1033: in dbSNP:rs2718698<li>R->G at 1197: in dbSNP:rs1061202</ul>									<li>rs2718698</li><li>rs1061202</li>	2
Q8IWK6	166647	<ul><li>V->M at 1043: in dbSNP:rs9002<li>V->G at 1166: in dbSNP:rs3814416</ul>									<li>rs9002</li><li>rs3814416</li>	2
Q8IWL1	6436	<ul><li>N->T at 9: in allele 1A, allele 1A<li>V->L at 50<li>A->P at 91: in allele 1A; dbSNP:rs17886395<li>Q->K at 223: in allele 1A</ul>										2
Q8IWL2	6435	<ul><li>N->T at 9: in dbSNP:rs1059046<li>V->A at 19: in allele 6A and allele 6A<li>L->V at 50: in allele 6A<li>R->W at 219: in susceptibility to idiopathic pulmonary fibrosis; allele 6A<li>Q->K at 223: in dbSNP:rs1965708</ul>									<li>rs1965708</li><li>rs1059046</li>	2
Q8IWL3	150274	<ul><li>Y->C at 73: in dbSNP:rs17886090<li>I->M at 163: in dbSNP:rs17884212</ul>									<li>rs17884212</li><li>rs17886090</li>	2
Q8IWL8	246744	<ul><li>Q->R at 7</ul>										2
Q8IWN7		<ul><li>P->A at 44<li>R->C at 56<li>T->S at 112<li>R->H at 136<li>A->V at 487<li>A->T at 624<li>P->L at 792<li>E->K at 795<li>R->W at 860<li>W->R at 1146<li>A->S at 1285: in allele RP1L1-3<li>G->A at 1319: in allele RP1L1-3<li>E->G at 1324: in allele RP1L1-3<li>Missing  at 1327-1406: in allele RP1L1-1<li>TE->VI at 1327-1328: in allele RP1L1-3<li>G->R at 1335: in allele RP1L1-2 and allele RP1L1-3<li>Missing  at 1343-1406: in allele RP1L1-2<li>Missing  at 1359-1406: in allele RP1L1-3<li>Missing  at 1375-1406: in allele RP1L1-4<li>Missing  at 1391-1406: in allele RP1L1-5<li>G->E at 1420: in allele RP1L1-1 and allele RP1L1-2<li>S->R at 1547: in dbSNP:rs4840498<li>A->V at 1563<li>P->R at 1575<li>S->L at 1585<li>K->KK at 1658<li>A->V at 1789<li>G->D at 1896<li>Missing at 1942-1948<li>D->V at 1969<li>E->A at 2026<li>A->T at 2034<li>G->V at 2149<li>Q->H at 2168<li>E->K at 2220<li>E->K at 2251: in dbSNP:rs4354268<li>P->L at 2279<li>G->E at 2322<li>G->R at 2365<li>H->R at 2415</ul>							Q8IWN7		<li>rs4354268</li><li>rs4840498</li>	2
Q8IWP9	25901	<ul><li>S->Y at 42: in dbSNP:rs34538642<li>P->L at 82: in dbSNP:rs2273510</ul>									<li>rs2273510</li><li>rs34538642</li>	2
Q8IWR0	29066	<ul><li>N->S at 3: in dbSNP:rs1429077<li>H->R at 57: in dbSNP:rs16958654</ul>									<li>rs1429077</li><li>rs16958654</li>	2
Q8IWS0	84295	<ul><li>C->Y at 45: in BFLS: in dbSNP rsrs28935179, MIM: 301900<li>C->F at 99: in BFLS, MIM: 301900<li>H->R at 229: in BFLS, MIM: 301900<li>K->E at 234: in BFLS, MIM: 301900<li>R->G at 257: in BFLS, MIM: 301900</ul>								Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]	rs28935179	2
Q8IWT1	6330	<ul><li>L->F at 179: in LQT10; increase in late sodium current, MIM: 611819</ul>								Long QT syndrome type 10 (LQT10) [MIM:611819]		2
Q8IWT3	23113	<ul><li>H->P at 2058: in dbSNP:rs2273709<li>T->I at 2180: in dbSNP:rs11962520</ul>									<li>rs11962520</li><li>rs2273709</li>	2
Q8IWU2	22853	<ul><li>P->A at 30: in dbSNP:rs3735252<li>D->H at 484: in a lung large cell carcinoma sample; somatic mutation<li>V->I at 595: in dbSNP rsrs34461195<li>V->M at 624: in dbSNP rsrs34628253<li>I->T at 693: in dbSNP rsrs56204700<li>L->M at 780: in dbSNP:rs11765552<li>V->F at 849: in dbSNP rsrs56196840<li>A->T at 862: in dbSNP rsrs34005293<li>S->R at 916: in dbSNP rsrs55867257<li>D->N at 1061: in dbSNP:rs3801295<li>D->N at 1220: in dbSNP:rs35912712<li>A->G at 1341: in dbSNP rsrs56343792<li>S->N at 1401: in dbSNP rsrs45488394</ul>									<li>rs35912712</li><li>rs3735252</li><li>rs45488394</li><li>rs55867257</li><li>rs34461195</li><li>rs56343792</li><li>rs34005293</li><li>rs56204700</li><li>rs11765552</li><li>rs3801295</li><li>rs56196840</li><li>rs34628253</li>	2
Q8IWU4	169026	<ul><li>R->Q at 325: in dbSNP:rs16889462<li>R->W at 325: in dbSNP:rs13266634</ul>									<li>rs16889462</li><li>rs13266634</li>	2
Q8IWU5	55959	<ul><li>Y->H at 531: in a breast cancer sample; somatic mutation<li>D->N at 573: in a breast cancer sample; somatic mutation<li>R->H at 674: in dbSNP:rs10048853</ul>									rs10048853	2
Q8IWU9	121278	<ul><li>P->S at 206: may be associated with susceptibility to bipolar affective disorder; decreases solubility; decreases thermal stability; catalytic activity as the wild type; dbSNP:rs17110563<li>R->H at 441: polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity</ul>			catalytic activity	GO:0003824					rs17110563	2
Q8IWV2	152330	<ul><li>T->P at 176: in a colorectal cancer sample; somatic mutation<li>K->N at 420: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IWV7	197131	<ul><li>H->R at 136: in JBS, MIM: 243800<li>K->M at 596: in dbSNP:rs34568456, MIM: 243800<li>I->V at 899: in dbSNP:rs35069201, MIM: 243800<li>G->S at 1279: in JBS, MIM: 243800</ul>								Johanson-Blizzard syndrome (JBS) [MIM:243800]	<li>rs34568456</li><li>rs35069201</li>	2
Q8IWV8	23304	<ul><li>E->D at 172: in dbSNP:rs6905054<li>A->T at 1095: in dbSNP:rs6917033</ul>									<li>rs6917033</li><li>rs6905054</li>	2
Q8IWW6	94134	<ul><li>F->S at 442: in dbSNP:rs2808096</ul>									rs2808096	2
Q8IWW8	137872	<ul><li>D->V at 242: in a breast cancer sample; somatic mutation<li>C->R at 449: in dbSNP:rs1060242</ul>									rs1060242	2
Q8IWX7	146862	<ul><li>V->I at 60: in dbSNP:rs16970659<li>A->V at 199: in dbSNP:rs35749208<li>K->R at 377: in dbSNP:rs41389545<li>D->H at 496: in a breast cancer sample; somatic mutation<li>I->N at 852: in dbSNP:rs11654824</ul>									<li>rs35749208</li><li>rs16970659</li><li>rs11654824</li><li>rs41389545</li>	2
Q8IWX8	10523	<ul><li>N->H at 199: in dbSNP:rs1043448</ul>									rs1043448	2
Q8IWX9		<ul><li>S->L at 100: in dbSNP:rs9349180<li>I->V at 115: in dbSNP:rs1968871<li>D->E at 160: in dbSNP:rs6458199</ul>									<li>rs1968871</li><li>rs9349180</li><li>rs6458199</li>	2
Q8IWY4	80274	<ul><li>G->R at 398: in dbSNP:rs129415<li>S->P at 648: in dbSNP:rs138993</ul>									<li>rs138993</li><li>rs129415</li>	2
Q8IWY9	146059	<ul><li>N->S at 599: in CDAI, MIM: 224120<li>P->L at 672: in CDAI, MIM: 224120<li>E->K at 698: in CDAI, MIM: 224120<li>R->W at 714: in CDAI, MIM: 224120<li>F->I at 868: in CDAI, MIM: 224120<li>V->M at 869: in CDAI, MIM: 224120<li>R->W at 1042: in CDAI, MIM: 224120<li>D->V at 1043: in CDAI, MIM: 224120<li>P->L at 1130: in CDAI, MIM: 224120</ul>								Congenital dyserythropoietic anemia type I (CDAI) [MIM:224120]		2
Q8IWZ3	54882	<ul><li>L->M at 175: in dbSNP:rs17850570<li>G->C at 228: in dbSNP:rs17850572<li>G->S at 1586: in dbSNP:rs1051309<li>N->S at 1760: in dbSNP:rs3752704</ul>									<li>rs3752704</li><li>rs17850572</li><li>rs17850570</li><li>rs1051309</li>	2
Q8IWZ5	287015	<ul><li>R->K at 244: in dbSNP:rs698673<li>V->M at 475: in dbSNP:rs28594654<li>A->E at 579: in dbSNP:rs9876490</ul>									<li>rs28594654</li><li>rs698673</li><li>rs9876490</li>	2
Q8IWZ6	55212	<ul><li>I->F at 66: in BBS7, MIM: 209900<li>T->I at 211: in BBS7, MIM: 209900<li>H->R at 323: in BBS7, MIM: 209900</ul>							Q8IWZ6	Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]		2
Q8IWZ8	57794	<ul><li>R->H at 290: in dbSNP:rs17751061<li>Q->H at 568: in dbSNP:rs1044980</ul>									<li>rs17751061</li><li>rs1044980</li>	2
Q8IX01	10147	<ul><li>S->G at 206: in dbSNP:rs4808907<li>M->T at 552: in dbSNP:rs10404860<li>Q->R at 649: in dbSNP:rs10414535<li>Q->R at 722: in dbSNP:rs34540303<li>R->Q at 881: in dbSNP:rs35646935</ul>									<li>rs35646935</li><li>rs4808907</li><li>rs10404860</li><li>rs34540303</li><li>rs10414535</li>	2
Q8IX03	23286	<ul><li>R->C at 250: in dbSNP:rs17551608<li>M->I at 734: in dbSNP:rs3822660<li>S->A at 735: in dbSNP:rs3822659</ul>									<li>rs3822659</li><li>rs3822660</li><li>rs17551608</li>	2
Q8IX05	9936	<ul><li>R->S at 200: in dbSNP:rs34068933</ul>									rs34068933	2
Q8IX12	55749	<ul><li>E->K at 607: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IX19	199675	<ul><li>I->V at 167<li>L->V at 175: in dbSNP:rs10409343</ul>									rs10409343	2
Q8IX21	55719	<ul><li>S->Y at 541: in dbSNP:rs10883563</ul>									rs10883563	2
Q8IX29	157574	<ul><li>R->Q at 75: in dbSNP:rs3735726<li>M->I at 254: in dbSNP:rs1390963<li>T->N at 255: in dbSNP:rs7016831</ul>									<li>rs7016831</li><li>rs3735726</li><li>rs1390963</li>	2
Q8IX30	222663	<ul><li>S->L at 410: in dbSNP:rs3800381</ul>									rs3800381	2
Q8IX90	221150	<ul><li>T->A at 254: in dbSNP:rs17345690</ul>									rs17345690	2
Q8IXA5	124912	<ul><li>C->Y at 80: in dbSNP:rs16967845<li>H->R at 100: in dbSNP:rs28963<li>A->T at 128: in dbSNP:rs35420663</ul>									<li>rs35420663</li><li>rs28963</li><li>rs16967845</li>	2
Q8IXB1	54431	<ul><li>D->N at 76: in dbSNP:rs6729801<li>L->I at 347: in dbSNP:rs13414223<li>Y->C at 414: in dbSNP:rs11681366<li>H->Q at 646: in dbSNP:rs288334</ul>									<li>rs11681366</li><li>rs13414223</li><li>rs6729801</li><li>rs288334</li>	2
Q8IXB3		<ul><li>H->Y at 3<li>P->S at 15<li>A->T at 18<li>F->S at 20: in dbSNP:rs6502774<li>E->D at 34<li>S->G at 57: in dbSNP:rs6502776</ul>									<li>rs6502776</li><li>rs6502774</li>	2
Q8IXE1	390437	<ul><li>N->D at 191: in dbSNP:rs10131326<li>S->T at 234: in dbSNP:rs10140908<li>C->R at 260: in dbSNP:rs10134472<li>R->H at 290: in dbSNP:rs10141025</ul>									<li>rs10134472</li><li>rs10131326</li><li>rs10141025</li><li>rs10140908</li>	2
Q8IXI1	89941	<ul><li>R->Q at 245: in dbSNP:rs1139897<li>R->C at 425: in dbSNP:rs3177338</ul>									<li>rs3177338</li><li>rs1139897</li>	2
Q8IXJ9	171023	<ul><li>V->I at 751: in dbSNP:rs6058693<li>P->L at 815: in dbSNP:rs6058694<li>L->R at 983: in dbSNP:rs34359205<li>L->F at 1325: in dbSNP:rs6057581</ul>									<li>rs6057581</li><li>rs34359205</li><li>rs6058694</li><li>rs6058693</li>	2
Q8IXK0	1912	<ul><li>P->S at 254: in dbSNP:rs10914692<li>V->M at 475: in dbSNP:rs12026290</ul>									<li>rs10914692</li><li>rs12026290</li>	2
Q8IXL6	56975	<ul><li>G->E at 365: in RNS, MIM: 259775<li>G->R at 365: in RNS, MIM: 259775<li>L->R at 374: in RNS, MIM: 259775<li>R->W at 535: in RNS, MIM: 259775</ul>								Raine syndrome (RNS) [MIM:259775]		2
Q8IXR5	51252	<ul><li>R->C at 793: in dbSNP:rs34013660</ul>									rs34013660	2
Q8IXS0	222826	<ul><li>V->I at 431: in dbSNP:rs595413</ul>									rs595413	2
Q8IXT1	220042	<ul><li>I->T at 217: in dbSNP:rs17853911<li>R->S at 460: in dbSNP:rs7947780<li>D->N at 757: in dbSNP:rs35711622<li>P->R at 795: in dbSNP:rs11826199<li>V->I at 842: in dbSNP:rs7130899</ul>									<li>rs11826199</li><li>rs7130899</li><li>rs7947780</li><li>rs35711622</li><li>rs17853911</li>	2
Q8IXT5	389677	<ul><li>S->F at 250: in dbSNP:rs17853906<li>R->C at 605: in dbSNP:rs17857188<li>N->H at 864: in dbSNP:rs16916188</ul>									<li>rs17853906</li><li>rs16916188</li><li>rs17857188</li>	2
Q8IXW0	256329	<ul><li>T->A at 44: in dbSNP:rs2061586</ul>									rs2061586	2
Q8IXX5	92703	<ul><li>R->M at 10: in dbSNP:rs11558253<li>A->T at 80: in dbSNP:rs6678040</ul>									<li>rs11558253</li><li>rs6678040</li>	2
Q8IXY8	285755	<ul><li>H->R at 110: in dbSNP:rs9398200</ul>									rs9398200	2
Q8IXZ2	23144	<ul><li>M->I at 6: in dbSNP:rs2242093<li>F->Y at 149: in dbSNP:rs3750206<li>E->D at 151: in dbSNP:rs3750207<li>S->G at 399: in dbSNP:rs1318196<li>G->S at 452: in dbSNP:rs4874147</ul>									<li>rs3750207</li><li>rs2242093</li><li>rs3750206</li><li>rs1318196</li><li>rs4874147</li>	2
Q8IY17	10908	<ul><li>A->P at 403: in dbSNP:rs17854645<li>R->H at 929: in SPG39, MIM: 612020<li>K->R at 1024: in dbSNP:rs17854647, MIM: 612020<li>M->V at 1051: in SPG39, MIM: 612020</ul>								Spastic paraplegia type 39 (SPG39) [MIM:612020]	<li>rs17854645</li><li>rs17854647</li>	2
Q8IY18	23137	<ul><li>V->I at 306: in dbSNP:rs1180116<li>C->R at 308: in dbSNP:rs1180117</ul>									<li>rs1180116</li><li>rs1180117</li>	2
Q8IY26	403313	<ul><li>S->G at 7: in dbSNP:rs34250374<li>M->T at 8: in dbSNP:rs35791393<li>S->W at 140: in dbSNP:rs17857157</ul>									<li>rs34250374</li><li>rs17857157</li><li>rs35791393</li>	2
Q8IY33	79778	<ul><li>A->P at 480: in dbSNP:rs12540098<li>P->L at 519: in dbSNP:rs4075307<li>L->V at 711: in dbSNP:rs11980797</ul>									<li>rs11980797</li><li>rs4075307</li><li>rs12540098</li>	2
Q8IY34	51296	<ul><li>F->I at 349: in dbSNP:rs17855607</ul>									rs17855607	2
Q8IY37	57647	<ul><li>R->Q at 458: in dbSNP:rs11057939<li>K->N at 508: in dbSNP:rs35165507<li>V->I at 717: in dbSNP:rs35016004<li>S->G at 869: in dbSNP:rs4516060<li>R->Q at 1081: in dbSNP:rs4447263</ul>									<li>rs4516060</li><li>rs11057939</li><li>rs35165507</li><li>rs4447263</li><li>rs35016004</li>	2
Q8IY42	55286	<ul><li>D->E at 39: in dbSNP:rs6852908<li>A->T at 151: in dbSNP:rs2973275<li>E->G at 274: in dbSNP:rs3733500</ul>									<li>rs6852908</li><li>rs3733500</li><li>rs2973275</li>	2
Q8IY47	25948	<ul><li>Q->K at 166: in dbSNP:rs17853781<li>E->G at 189: in dbSNP:rs17854425<li>T->P at 193: in dbSNP:rs35477666<li>P->R at 254: in dbSNP:rs17857323<li>P->R at 301: in dbSNP:rs17857324<li>L->I at 534: in dbSNP:rs17854424<li>S->Y at 594: in dbSNP:rs17853783</ul>									<li>rs17857324</li><li>rs17857323</li><li>rs17854424</li><li>rs17854425</li><li>rs35477666</li><li>rs17853781</li><li>rs17853783</li>	2
Q8IY50	148641	<ul><li>S->C at 231: in dbSNP:rs17853780</ul>									rs17853780	2
Q8IY51	201798	<ul><li>V->I at 439: in dbSNP:rs4696354</ul>									rs4696354	2
Q8IY63	154810	<ul><li>P->L at 847: in dbSNP:rs11020968</ul>									rs11020968	2
Q8IY81	117246	<ul><li>E->Q at 91: in dbSNP:rs2584625<li>C->S at 424: in dbSNP:rs2727288</ul>									<li>rs2584625</li><li>rs2727288</li>	2
Q8IY82	84229	<ul><li>L->M at 120: in dbSNP:rs11649000<li>S->C at 186: in dbSNP:rs7196016<li>L->P at 433: in dbSNP:rs3809611<li>P->H at 521: in dbSNP:rs17853687<li>N->K at 581: in dbSNP:rs2923144<li>C->R at 766: in dbSNP:rs2923147</ul>									<li>rs17853687</li><li>rs11649000</li><li>rs3809611</li><li>rs7196016</li><li>rs2923144</li><li>rs2923147</li>	2
Q8IY84	167359	<ul><li>R->W at 21: in dbSNP rsrs55664335<li>E->Q at 64: in dbSNP rsrs55663207<li>L->I at 260: in dbSNP rsrs35659008<li>M->I at 320: in dbSNP rsrs55770078<li>P->S at 333: in a lung neuroendocrine carcinoma sample; somatic mutation<li>P->T at 411: in a lung large cell carcinoma sample; somatic mutation</ul>									<li>rs55663207</li><li>rs55664335</li><li>rs55770078</li><li>rs35659008</li>	2
Q8IY85	124989	<ul><li>Q->H at 286: in a breast cancer sample; somatic mutation<li>V->I at 312: in dbSNP:rs4968318<li>M->V at 617: in dbSNP:rs17855599</ul>									<li>rs4968318</li><li>rs17855599</li>	2
Q8IY92	84464	<ul><li>P->L at 1122: in dbSNP:rs714181<li>A->V at 1221: in dbSNP:rs3827530<li>S->F at 1271: in dbSNP:rs3810813<li>A->T at 1367: in dbSNP:rs17136464<li>P->S at 1677: in dbSNP:rs7196345</ul>									<li>rs7196345</li><li>rs3810813</li><li>rs17136464</li><li>rs3827530</li><li>rs714181</li>	2
Q8IYA6	150468	<ul><li>L->F at 19: in dbSNP:rs36093393<li>K->R at 26: in dbSNP:rs35593767<li>N->S at 62: in dbSNP:rs17042344<li>T->I at 104: in dbSNP:rs13007595<li>S->R at 263: in dbSNP:rs17042341<li>I->V at 375: in dbSNP:rs6731822<li>P->A at 379: in dbSNP:rs2676126<li>S->G at 519: in dbSNP:rs36046436<li>L->S at 614: in dbSNP:rs3811040<li>E->D at 706: in dbSNP:rs3811039</ul>									<li>rs36046436</li><li>rs13007595</li><li>rs6731822</li><li>rs3811039</li><li>rs17042344</li><li>rs3811040</li><li>rs2676126</li><li>rs36093393</li><li>rs17042341</li><li>rs35593767</li>	2
Q8IYA7	283078	<ul><li>R->H at 40: in dbSNP:rs34439626</ul>									rs34439626	2
Q8IYA8	339834	<ul><li>D->E at 430: in dbSNP:rs13068038</ul>									rs13068038	2
Q8IYB0		<ul><li>D->Y at 129: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IYB3	10250	<ul><li>R->H at 170: in dbSNP:rs17857102</ul>									rs17857102	2
Q8IYB4	51555	<ul><li>A->T at 226: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IYB5	60682	<ul><li>A->V at 212: in dbSNP:rs2273566</ul>									rs2273566	2
Q8IYB7	129563	<ul><li>P->S at 12: in dbSNP:rs723044</ul>									rs723044	2
Q8IYB8	6832	<ul><li>P->T at 30: in dbSNP:rs34596380</ul>									rs34596380	2
Q8IYD1	23708	<ul><li>P->T at 23: in dbSNP:rs17855593</ul>									rs17855593	2
Q8IYD8	57697	<ul><li>S->F at 175: in dbSNP:rs10138997<li>V->L at 878: in dbSNP:rs1367580<li>P->A at 1812: in dbSNP:rs3736772</ul>									<li>rs3736772</li><li>rs1367580</li><li>rs10138997</li>	2
Q8IYD9	162681	<ul><li>R->P at 147: in dbSNP:rs1657907<li>C->F at 196: in dbSNP:rs16958096</ul>									<li>rs1657907</li><li>rs16958096</li>	2
Q8IYE0	57639	<ul><li>N->S at 345: in dbSNP:rs1109968</ul>									rs1109968	2
Q8IYE1		<ul><li>R->W at 25: in dbSNP:rs17238798<li>E->V at 375: in dbSNP:rs17853515<li>S->T at 547: in dbSNP:rs12495805</ul>									<li>rs12495805</li><li>rs17238798</li><li>rs17853515</li>	2
Q8IYF1	51224	<ul><li>R->P at 179: in dbSNP:rs2571028<li>C->F at 254: in dbSNP:rs2010834<li>A->S at 403: in dbSNP:rs892586<li>R->Q at 498: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2010834</li><li>rs2571028</li><li>rs892586</li>	2
Q8IYF3	56159	<ul><li>K->R at 130: in dbSNP:rs6525433<li>E->K at 451: in dbSNP:rs4844247</ul>									<li>rs6525433</li><li>rs4844247</li>	2
Q8IYG6	115399	<ul><li>R->Q at 12: in dbSNP:rs2277269<li>R->G at 507: in dbSNP:rs10902170<li>D->H at 523: in dbSNP:rs10902171</ul>									<li>rs10902171</li><li>rs10902170</li><li>rs2277269</li>	2
Q8IYH5	26009	<ul><li>P->S at 456: in a colorectal cancer sample; somatic mutation</ul>										2
Q8IYI0	149840	<ul><li>A->V at 23: in dbSNP:rs237422</ul>									rs237422	2
Q8IYI8	126070	<ul><li>P->R at 88: in dbSNP:rs448446<li>S->N at 569: in dbSNP:rs400106</ul>									<li>rs400106</li><li>rs448446</li>	2
Q8IYK2	126402	<ul><li>D->E at 434: in dbSNP:rs17855585<li>T->S at 444: in dbSNP:rs8111625<li>P->T at 499: in dbSNP:rs8112667</ul>									<li>rs8111625</li><li>rs8112667</li><li>rs17855585</li>	2
Q8IYK4	23127	<ul><li>V->I at 475: in a breast cancer sample; somatic mutation</ul>										2
Q8IYL2		<ul><li>R->G at 352: in dbSNP:rs1880024</ul>									rs1880024	2
Q8IYL3	339448	<ul><li>T->R at 53: in dbSNP:rs4274008<li>A->S at 101: in dbSNP:rs10909820</ul>									<li>rs4274008</li><li>rs10909820</li>	2
Q8IYL9	8477	<ul><li>I->L at 231: in dbSNP:rs3742704</ul>									rs3742704	2
Q8IYM0	84070	<ul><li>V->M at 397: in dbSNP:rs17853450<li>E->Q at 553: in dbSNP:rs12299908</ul>									<li>rs12299908</li><li>rs17853450</li>	2
Q8IYM2	55106	<ul><li>S->R at 43: in dbSNP:rs1849733<li>C->R at 168: in dbSNP:rs2586514<li>S->P at 448: in dbSNP:rs12946189</ul>									<li>rs1849733</li><li>rs12946189</li><li>rs2586514</li>	2
Q8IYM9	10346	<ul><li>D->N at 155: in dbSNP:rs7935564<li>T->A at 232: in dbSNP:rs2291843<li>R->T at 242: in dbSNP:rs1063303<li>R->K at 321: in dbSNP:rs12364019</ul>									<li>rs1063303</li><li>rs12364019</li><li>rs7935564</li><li>rs2291843</li>	2
Q8IYP9	254887	<ul><li>H->N at 132: in dbSNP:rs17853401<li>T->A at 221: in dbSNP:rs17853402<li>K->R at 247: in dbSNP:rs11921691<li>H->R at 274: in dbSNP:rs17857054</ul>									<li>rs17857054</li><li>rs17853402</li><li>rs11921691</li><li>rs17853401</li>	2
Q8IYQ7	79896	<ul><li>L->P at 154: in dbSNP:rs35827877<li>A->E at 248: in dbSNP:rs34929144</ul>									<li>rs34929144</li><li>rs35827877</li>	2
Q8IYR0	154313	<ul><li>R->K at 154: in dbSNP:rs13219364<li>G->A at 170: in dbSNP:rs16879281</ul>									<li>rs16879281</li><li>rs13219364</li>	2
Q8IYR2	114826	<ul><li>I->R at 131: in dbSNP:rs7224496<li>R->W at 562: in dbSNP:rs11549830<li>C->Y at 727: in dbSNP:rs9902398</ul>									<li>rs7224496</li><li>rs11549830</li><li>rs9902398</li>	2
Q8IYR6	8577	<ul><li>V->I at 189: in dbSNP:rs35624603</ul>									rs35624603	2
Q8IYS0	54762	<ul><li>L->P at 644: in dbSNP:rs17853381</ul>									rs17853381	2
Q8IYS1	135293	<ul><li>K->E at 333: in dbSNP:rs10944433</ul>									rs10944433	2
Q8IYS4	146562	<ul><li>E->D at 88: in dbSNP:rs17137215<li>P->S at 143: in dbSNP:rs17137230<li>S->L at 190: in dbSNP:rs35599524<li>E->K at 232: in dbSNP:rs35002791<li>A->V at 241: in dbSNP:rs7202010<li>C->R at 302: in dbSNP:rs2075469<li>R->Q at 354: in dbSNP:rs737700</ul>									<li>rs17137215</li><li>rs2075469</li><li>rs17137230</li><li>rs35002791</li><li>rs737700</li><li>rs35599524</li><li>rs7202010</li>	2
Q8IYS5	126014	<ul><li>S->I at 97: in dbSNP:rs1657535<li>Y->S at 229: in dbSNP:rs8106130</ul>									<li>rs1657535</li><li>rs8106130</li>	2
Q8IYT1	149647	<ul><li>N->D at 22: in dbSNP:rs17853363<li>N->S at 253: in dbSNP:rs3122712<li>G->D at 319: in dbSNP:rs17853362<li>N->D at 551: in dbSNP:rs3122713<li>T->M at 577: in dbSNP:rs3795842</ul>									<li>rs17853363</li><li>rs17853362</li><li>rs3122712</li><li>rs3795842</li><li>rs3122713</li>	2
Q8IYT2	55783	<ul><li>L->F at 60: in dbSNP:rs3096380<li>Y->F at 163: in dbSNP:rs17853360<li>N->S at 416: in dbSNP:rs3803704<li>T->K at 608: in dbSNP:rs3096381<li>F->L at 753: in dbSNP:rs16970857</ul>									<li>rs3096380</li><li>rs3096381</li><li>rs17853360</li><li>rs3803704</li><li>rs16970857</li>	2
Q8IYT3	80129	<ul><li>A->V at 269: in dbSNP:rs12205837<li>F->S at 324: in dbSNP:rs953767<li>A->T at 331: in dbSNP:rs17855718<li>N->K at 479: in dbSNP:rs35159094<li>R->Q at 553: in dbSNP:rs34430497<li>V->I at 604: in dbSNP:rs6929137<li>V->I at 683: in dbSNP:rs3734804</ul>									<li>rs6929137</li><li>rs17855718</li><li>rs35159094</li><li>rs953767</li><li>rs34430497</li><li>rs3734804</li><li>rs12205837</li>	2
Q8IYT4	83473	<ul><li>S->N at 160: in dbSNP:rs7233515</ul>									rs7233515	2
Q8IYT8	9706	<ul><li>P->S at 242: in dbSNP:rs34670978<li>V->M at 370: in dbSNP:rs150122<li>T->I at 533: in dbSNP:rs4462660<li>G->E at 627: in a metastatic melanoma sample; somatic mutation<li>A->V at 662: in a metastatic melanoma sample; somatic mutation<li>G->R at 752: in dbSNP:rs55730189<li>D->E at 842: in dbSNP:rs35107651</ul>									<li>rs4462660</li><li>rs35107651</li><li>rs34670978</li><li>rs55730189</li><li>rs150122</li>	2
Q8IYU2	57531	<ul><li>R->H at 17: in dbSNP:rs17853353<li>I->T at 374: in dbSNP:rs17857038</ul>									<li>rs17857038</li><li>rs17853353</li>	2
Q8IYU4	143630	<ul><li>D->V at 92: in dbSNP:rs7933557<li>Q->K at 143: in dbSNP:rs3802978<li>R->C at 171: in dbSNP:rs2047456<li>G->D at 259: in dbSNP:rs16932225<li>H->Y at 274: in dbSNP:rs2017434<li>A->V at 275: in dbSNP:rs2017433<li>G->W at 379: in dbSNP:rs393044<li>Q->E at 455: in dbSNP:rs12223282</ul>									<li>rs2017433</li><li>rs7933557</li><li>rs16932225</li><li>rs2017434</li><li>rs12223282</li><li>rs393044</li><li>rs2047456</li><li>rs3802978</li>	2
Q8IYU8	221154	<ul><li>Q->L at 260: in dbSNP:rs17853349</ul>									rs17853349	2
Q8IYW2	54777	<ul><li>A->T at 492: in dbSNP:rs4880433<li>S->G at 701: in dbSNP:rs2254419</ul>									<li>rs2254419</li><li>rs4880433</li>	2
Q8IYW4	150350	<ul><li>I->T at 109: in dbSNP:rs17319801</ul>									rs17319801	2
Q8IYW5	165918	<ul><li>K->R at 387: in dbSNP:rs35774921<li>P->Q at 401: in dbSNP:rs3796129<li>E->K at 413: in dbSNP:rs6790173</ul>									<li>rs35774921</li><li>rs6790173</li><li>rs3796129</li>	2
Q8IYX0		<ul><li>E->G at 69: in dbSNP:rs12154540<li>H->R at 120: in dbSNP:rs17139320<li>Y->H at 212: in dbSNP:rs1830035<li>C->S at 223: in dbSNP:rs1830036</ul>									<li>rs12154540</li><li>rs1830035</li><li>rs1830036</li><li>rs17139320</li>	2
Q8IYX1	161514	<ul><li>R->Q at 113: in dbSNP:rs16958445</ul>									rs16958445	2
Q8IYX3	164592	<ul><li>R->C at 96: in dbSNP:rs861854<li>G->R at 121: in dbSNP:rs371513<li>R->W at 122: in dbSNP:rs861853<li>R->W at 199: in dbSNP:rs12170285<li>A->T at 436: in dbSNP:rs11705259</ul>									<li>rs371513</li><li>rs861853</li><li>rs861854</li><li>rs12170285</li><li>rs11705259</li>	2
Q8IYX7	158297	<ul><li>K->E at 27: in dbSNP:rs7021572<li>P->S at 63: in dbSNP:rs6475273</ul>									<li>rs6475273</li><li>rs7021572</li>	2
Q8IYX8	285753	<ul><li>D->E at 194: in dbSNP:rs351733</ul>									rs351733	2
Q8IYY4	199221	<ul><li>R->W at 321: in dbSNP:rs2724693<li>A->T at 545: in dbSNP:rs446644<li>A->V at 551: in dbSNP:rs11917468<li>H->R at 593: in dbSNP:rs374045<li>K->E at 645: in dbSNP:rs442800</ul>									<li>rs374045</li><li>rs442800</li><li>rs446644</li><li>rs2724693</li><li>rs11917468</li>	2
Q8IZ02	151827	<ul><li>P->L at 36: in dbSNP:rs9820986<li>L->I at 241: in dbSNP:rs10936600<li>M->I at 360: in dbSNP:rs9872760</ul>									<li>rs9820986</li><li>rs9872760</li><li>rs10936600</li>	2
Q8IZ07	88455	<ul><li>L->P at 505: in dbSNP:rs2287174</ul>									rs2287174	2
Q8IZ08	64582	<ul><li>Q->P at 5: in dbSNP:rs1752428<li>V->A at 481: in dbSNP:rs1752427</ul>									<li>rs1752427</li><li>rs1752428</li>	2
Q8IZ13	63920	<ul><li>A->S at 523: in dbSNP:rs10515808</ul>									rs10515808	2
Q8IZ20	257101	<ul><li>H->N at 204: in dbSNP:rs17852672</ul>									rs17852672	2
Q8IZ40	283248	<ul><li>T->A at 514: in dbSNP:rs320108</ul>									rs320108	2
Q8IZ41	158158	<ul><li>R->C at 262: in dbSNP:rs4146960</ul>									rs4146960	2
Q8IZ52	79586	<ul><li>R->Q at 371: in dbSNP:rs6436155</ul>									rs6436155	2
Q8IZ57	140767	<ul><li>I->V at 41: in dbSNP:rs17299946<li>H->Y at 104: in dbSNP:rs11544636</ul>									<li>rs17299946</li><li>rs11544636</li>	2
Q8IZ63	163154	<ul><li>P->L at 116: in dbSNP:rs3745640</ul>									rs3745640	2
Q8IZ69	27037	<ul><li>S->R at 602: in dbSNP:rs447017<li>P->S at 604: in a breast cancer sample; somatic mutation</ul>									rs447017	2
Q8IZ83	126133	<ul><li>E->K at 110: in dbSNP:rs3745312<li>V->L at 227: in dbSNP:rs1320303</ul>									<li>rs3745312</li><li>rs1320303</li>	2
Q8IZ96	113540	<ul><li>S->T at 10: in dbSNP:rs16956746</ul>									rs16956746	2
Q8IZA0	79932	<ul><li>G->D at 243: in dbSNP:rs1635712<li>Q->H at 837: in dbSNP:rs1361040</ul>									<li>rs1361040</li><li>rs1635712</li>	2
Q8IZC4	219790	<ul><li>K->T at 101: in dbSNP:rs3765004<li>H->R at 462: in dbSNP:rs3125734</ul>									<li>rs3125734</li><li>rs3765004</li>	2
Q8IZC6	85301	<ul><li>V->I at 89: in dbSNP:rs2567707<li>Q->R at 120: in dbSNP:rs2567706<li>A->T at 265: in dbSNP:rs34578955<li>R->C at 349: in dbSNP:rs34973417<li>A->T at 422: in dbSNP:rs2241671<li>I->T at 537: in dbSNP:rs2808770<li>I->F at 611: in dbSNP:rs2567705<li>P->R at 720: in dbSNP:rs35446342<li>P->Q at 1116: in dbSNP:rs7048607<li>R->Q at 1348: in dbSNP:rs1631319<li>R->Q at 1354: in dbSNP:rs10982134<li>M->V at 1808: in dbSNP:rs3736252</ul>									<li>rs2567705</li><li>rs2241671</li><li>rs3736252</li><li>rs35446342</li><li>rs2808770</li><li>rs34973417</li><li>rs34578955</li><li>rs1631319</li><li>rs10982134</li><li>rs7048607</li><li>rs2567707</li><li>rs2567706</li>	2
Q8IZC7	94039	<ul><li>M->L at 121: in dbSNP:rs4808209</ul>									rs4808209	2
Q8IZD2	55904	<ul><li>S->P at 1424: in dbSNP:rs35605511</ul>									rs35605511	2
Q8IZD4	196513	<ul><li>N->D at 195: in dbSNP:rs12423058<li>N->S at 216: in dbSNP:rs34730825<li>S->T at 302: in dbSNP:rs2470449<li>R->H at 345: in dbSNP:rs715146</ul>									<li>rs12423058</li><li>rs715146</li><li>rs2470449</li><li>rs34730825</li>	2
Q8IZD6	55356	<ul><li>P->Q at 349: in dbSNP:rs17852419</ul>									rs17852419	2
Q8IZE3	57147	<ul><li>G->A at 597: in dbSNP:rs12143301<li>Q->R at 621: in dbSNP:rs4656197</ul>									<li>rs12143301</li><li>rs4656197</li>	2
Q8IZF2	221395	<ul><li>T->M at 604: in dbSNP:rs586024<li>V->I at 801: in dbSNP:rs9395218<li>M->T at 856: in dbSNP:rs547499</ul>									<li>rs9395218</li><li>rs586024</li><li>rs547499</li>	2
Q8IZF3	221393	<ul><li>N->K at 541: in dbSNP:rs9369738<li>S->L at 674: in a breast cancer sample; somatic mutation</ul>									rs9369738	2
Q8IZF5	165082	<ul><li>A->T at 404: in dbSNP:rs2052937</ul>									rs2052937	2
Q8IZF7		<ul><li>Q->R at 148: in dbSNP:rs6907125<li>I->V at 467: in dbSNP:rs9381594</ul>									<li>rs9381594</li><li>rs6907125</li>	2
Q8IZH2	54464	<ul><li>S->G at 674: in dbSNP:rs35214510<li>V->A at 1259: in dbSNP:rs35902661</ul>									<li>rs35902661</li><li>rs35214510</li>	2
Q8IZJ0	282616	<ul><li>T->M at 10: in dbSNP:rs554971<li>T->A at 112: in dbSNP:rs8103362</ul>									<li>rs554971</li><li>rs8103362</li>	2
Q8IZJ1	219699	<ul><li>I->V at 242: in dbSNP:rs34957097<li>A->T at 516: in dbSNP:rs10509332</ul>									<li>rs10509332</li><li>rs34957097</li>	2
Q8IZJ3		<ul><li>R->W at 251: in dbSNP:rs10426545<li>T->M at 265: in dbSNP:rs4808551<li>Q->R at 294: in dbSNP:rs3745340<li>D->E at 539: in dbSNP:rs3745335<li>H->R at 546: in dbSNP:rs1824152<li>P->H at 736: in dbSNP:rs9305083<li>V->I at 1156: in dbSNP:rs2250918<li>I->T at 1268: in dbSNP:rs706761<li>Q->R at 1843: in dbSNP:rs1054533</ul>									<li>rs1824152</li><li>rs4808551</li><li>rs2250918</li><li>rs3745340</li><li>rs1054533</li><li>rs9305083</li><li>rs706761</li><li>rs3745335</li><li>rs10426545</li>	2
Q8IZJ4	266747	<ul><li>Q->R at 24: in dbSNP:rs738786<li>R->C at 37: in dbSNP:rs17003394<li>T->M at 216: in dbSNP:rs17003397<li>H->Y at 241: in dbSNP:rs2070446<li>E->K at 297: in dbSNP:rs17003398<li>M->R at 342: in dbSNP:rs2070449<li>D->V at 358: in dbSNP:rs8137247<li>V->A at 378: in dbSNP:rs1007298</ul>									<li>rs8137247</li><li>rs2070446</li><li>rs17003394</li><li>rs2070449</li><li>rs1007298</li><li>rs17003398</li><li>rs738786</li><li>rs17003397</li>	2
Q8IZK6	255231	<ul><li>M->V at 365: in dbSNP:rs17117841<li>K->Q at 370: in dbSNP:rs6704203</ul>									<li>rs6704203</li><li>rs17117841</li>	2
Q8IZL8	27043	<ul><li>T->S at 1126: in dbSNP:rs9436</ul>									rs9436	2
Q8IZL9	23552	<ul><li>S->L at 86: in dbSNP:rs28364953<li>S->N at 106: in dbSNP rsrs41286029<li>A->T at 137: in dbSNP:rs28364955<li>K->R at 281: in dbSNP rsrs28364963</ul>									<li>rs28364953</li><li>rs28364963</li><li>rs41286029</li><li>rs28364955</li>	2
Q8IZM9	145389	<ul><li>M->L at 70: in dbSNP:rs976272</ul>									rs976272	2
Q8IZN3	79683	<ul><li>T->M at 334: in dbSNP:rs8180688</ul>									rs8180688	2
Q8IZP0	10006	<ul><li>G->A at 331: in dbSNP:rs2306236</ul>									rs2306236	2
Q8IZP2		<ul><li>S->L at 71</ul>										2
Q8IZP6	140432	<ul><li>V->M at 92: in dbSNP:rs16955011</ul>									rs16955011	2
Q8IZP7	100134314	<ul><li>K->R at 265: in dbSNP:rs9516771</ul>									rs9516771	2
Q8IZQ1	23001	<ul><li>I->V at 3032: in dbSNP:rs17368018</ul>									rs17368018	2
Q8IZS5	266553	<ul><li>S->L at 21: in dbSNP:rs9477310<li>R->Q at 123: in dbSNP:rs9383206<li>T->I at 145: in dbSNP:rs9477211</ul>									<li>rs9383206</li><li>rs9477310</li><li>rs9477211</li>	2
Q8IZS6	6991	<ul><li>I->V at 67<li>R->I at 88: in dbSNP:rs2027063<li>V->A at 121: in dbSNP:rs13194101</ul>									<li>rs13194101</li><li>rs2027063</li>	2
Q8IZT6	259266	<ul><li>I->V at 313: in dbSNP:rs12025066<li>R->G at 430: in dbSNP:rs6428388<li>T->S at 869: in dbSNP:rs7551108<li>S->F at 1090: in dbSNP:rs16841081<li>Y->H at 2494: in dbSNP:rs964201<li>S->G at 2562: in dbSNP:rs41310927<li>Q->H at 2620: in dbSNP:rs12138336<li>L->I at 2647: in dbSNP:rs3762271<li>L->R at 3132: in dbSNP:rs36004306<li>H->R at 3258: in dbSNP:rs7528827</ul>									<li>rs12138336</li><li>rs6428388</li><li>rs7528827</li><li>rs3762271</li><li>rs16841081</li><li>rs7551108</li><li>rs41310927</li><li>rs12025066</li><li>rs36004306</li><li>rs964201</li>	2
Q8IZT8	222537	<ul><li>I->N at 247: in dbSNP:rs17793043</ul>									rs17793043	2
Q8IZU2	116966	<ul><li>A->T at 814: in dbSNP:rs4690661<li>C->S at 913: in dbSNP:rs7693453<li>E->K at 952: in dbSNP:rs6810394<li>A->T at 1215: in dbSNP:rs17625943<li>A->T at 1295: in dbSNP:rs11736872</ul>									<li>rs17625943</li><li>rs4690661</li><li>rs6810394</li><li>rs7693453</li><li>rs11736872</li>	2
Q8IZU8		<ul><li>P->S at 673: in dbSNP:rs2279269<li>Y->C at 730: in dbSNP:rs12953840<li>K->E at 1090: in a colorectal cancer sample; somatic mutation</ul>									<li>rs12953840</li><li>rs2279269</li>	2
Q8IZW8	84951	<ul><li>L->P at 179: in dbSNP:rs3764424<li>T->K at 327: in dbSNP:rs33923045<li>S->N at 498: in dbSNP:rs2290207<li>R->C at 642: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3764424</li><li>rs2290207</li><li>rs33923045</li>	2
Q8IZX4	138474	<ul><li>G->A at 47: in a lung small cell carcinoma sample; somatic mutation<li>Q->E at 171<li>G->A at 256: in dbSNP rsrs55991718<li>M->V at 371: in dbSNP:rs17219559<li>I->N at 532: in dbSNP rsrs56128445<li>P->S at 637: in dbSNP rsrs56157814<li>L->F at 750: in a lung adenocarcinoma sample; somatic mutation<li>L->I at 762: in a lung adenocarcinoma sample; somatic mutation<li>E->D at 794: in a lung adenocarcinoma sample; somatic mutation<li>M->T at 820: in dbSNP:rs1258<li>R->Q at 845: in dbSNP rsrs34787787<li>R->C at 1016: in dbSNP rsrs35905429<li>K->N at 1038: in dbSNP rsrs55767137<li>T->I at 1169: in dbSNP rsrs55976674<li>V->L at 1312: in dbSNP rsrs55824107<li>R->C at 1356: in dbSNP rsrs56107531<li>P->S at 1389: in dbSNP rsrs56393725<li>I->V at 1411: in dbSNP rsrs34500740<li>A->T at 1540: in dbSNP rsrs55782058<li>H->Y at 1549: in a glioblastoma multiforme sample; somatic mutation<li>K->N at 1731: in dbSNP rsrs34241003<li>I->V at 1805: in dbSNP:rs16918393<li>P->L at 1810: in dbSNP rsrs56342342<li>H->Q at 1824: in a lung adenocarcinoma sample; somatic mutation</ul>									<li>rs55782058</li><li>rs55976674</li><li>rs34787787</li><li>rs1258</li><li>rs56342342</li><li>rs55991718</li><li>rs55767137</li><li>rs34241003</li><li>rs56393725</li><li>rs34500740</li><li>rs16918393</li><li>rs56128445</li><li>rs35905429</li><li>rs56107531</li><li>rs56157814</li><li>rs17219559</li><li>rs55824107</li>	2
Q8IZY2	10347	<ul><li>E->G at 188: in dbSNP:rs3764645<li>T->A at 319: in dbSNP:rs3752232<li>H->R at 395: in dbSNP:rs3764647<li>R->H at 463: in dbSNP:rs3752233<li>N->T at 718: in dbSNP:rs3752239<li>R->Q at 1349: in dbSNP:rs3745842<li>G->A at 1527: in dbSNP:rs3752246<li>Q->R at 1686: in dbSNP:rs4147918<li>A->S at 2045: in dbSNP:rs4147934</ul>									<li>rs3752232</li><li>rs4147934</li><li>rs3752246</li><li>rs3752233</li><li>rs3752239</li><li>rs3764647</li><li>rs3745842</li><li>rs4147918</li><li>rs3764645</li>	2
Q8J025	147495	<ul><li>V->I at 150: in dbSNP:rs3748415</ul>									rs3748415	2
Q8N0S2	93426	<ul><li>E->D at 132: in dbSNP:rs8181357<li>K->R at 183: in dbSNP:rs3747881<li>P->A at 317: in dbSNP:rs11101822</ul>									<li>rs8181357</li><li>rs11101822</li><li>rs3747881</li>	2
Q8N0S6	91687	<ul><li>I->F at 117: in dbSNP:rs12086855</ul>									rs12086855	2
Q8N0T5		<ul><li>L->F at 11: in dbSNP:rs9309024<li>S->P at 60: in dbSNP:rs17022177<li>L->S at 93: in dbSNP:rs68352</ul>									<li>rs9309024</li><li>rs17022177</li><li>rs68352</li>	2
Q8N0U2	199964	<ul><li>E->K at 40: in dbSNP:rs3737832</ul>									rs3737832	2
Q8N0U4		<ul><li>G->A at 60: in dbSNP:rs28695887</ul>									rs28695887	2
Q8N0U6	221718	<ul><li>Y->C at 106: in dbSNP:rs303061</ul>									rs303061	2
Q8N0U7	127795	<ul><li>Q->E at 151: in a breast cancer sample; somatic mutation<li>L->V at 185: in dbSNP:rs12737449<li>N->D at 301: in dbSNP:rs17120025<li>K->E at 403: in dbSNP:rs626251<li>A->P at 406: in dbSNP:rs35260089</ul>									<li>rs12737449</li><li>rs35260089</li><li>rs626251</li><li>rs17120025</li>	2
Q8N0V3	79863	<ul><li>V->M at 122: in dbSNP:rs748338<li>N->H at 245: in dbSNP:rs3744872<li>K->Q at 276: in dbSNP:rs3744873</ul>									<li>rs3744872</li><li>rs3744873</li><li>rs748338</li>	2
Q8N0V4	55203	<ul><li>R->Q at 444: in dbSNP:rs2232026<li>Q->R at 452: in dbSNP:rs2232027</ul>									<li>rs2232027</li><li>rs2232026</li>	2
Q8N0W3	197258	<ul><li>V->M at 146: in dbSNP rsrs17881323<li>A->T at 521: in dbSNP:rs17881069<li>R->H at 571: in dbSNP:rs17886171<li>P->L at 701: in dbSNP rsrs17883716<li>A->T at 858: in dbSNP rsrs17884050<li>V->M at 861: in dbSNP:rs17878599<li>R->W at 901: in dbSNP rsrs17881635<li>R->Q at 939: in dbSNP rsrs17886060<li>R->W at 939: in dbSNP rsrs17883248</ul>									<li>rs17881323</li><li>rs17886171</li><li>rs17881069</li><li>rs17883248</li><li>rs17883716</li><li>rs17881635</li><li>rs17884050</li><li>rs17878599</li><li>rs17886060</li>	2
Q8N0W4	57502	<ul><li>G->S at 214: in a colorectal cancer sample; somatic mutation</ul>										2
Q8N0W5	124152	<ul><li>L->P at 220: in dbSNP:rs7191155</ul>									rs7191155	2
Q8N0W7	158521	<ul><li>A->V at 142: in dbSNP:rs764631</ul>									rs764631	2
Q8N0X2	79582	<ul><li>P->T at 324: in dbSNP:rs10167688<li>Q->H at 361: in dbSNP:rs2042791<li>K->T at 425: in dbSNP:rs12623569</ul>									<li>rs2042791</li><li>rs10167688</li><li>rs12623569</li>	2
Q8N0X4	171425	<ul><li>D->Y at 28: in dbSNP:rs17577293<li>V->I at 128: in dbSNP:rs35680839<li>I->V at 241: in dbSNP:rs3783185</ul>									<li>rs3783185</li><li>rs17577293</li><li>rs35680839</li>	2
Q8N0Y3		<ul><li>L->F at 61: in dbSNP:rs535034<li>L->F at 86: in dbSNP:rs2808136<li>T->M at 239: in dbSNP:rs475947<li>F->L at 274: in dbSNP:rs3817271</ul>									<li>rs2808136</li><li>rs535034</li><li>rs3817271</li><li>rs475947</li>	2
Q8N0Y5	120586	<ul><li>I->V at 124: in dbSNP:rs17603011<li>K->N at 139: in dbSNP:rs17150021</ul>									<li>rs17603011</li><li>rs17150021</li>	2
Q8N0Y7	441531	<ul><li>R->C at 40<li>R->Q at 90: in dbSNP rsrs5959129<li>I->T at 175</ul>									rs5959129	2
Q8N0Z3	152185	<ul><li>L->V at 275: in dbSNP:rs16861032<li>R->G at 472: in dbSNP:rs7614751</ul>									<li>rs16861032</li><li>rs7614751</li>	2
Q8N0Z6	91875	<ul><li>Q->H at 14: in dbSNP:rs34675160<li>Q->R at 47: in dbSNP:rs3742945</ul>									<li>rs3742945</li><li>rs34675160</li>	2
Q8N0Z8	126789	<ul><li>R->Q at 103: in dbSNP:rs12094447<li>R->W at 197: in dbSNP:rs34738574</ul>									<li>rs34738574</li><li>rs12094447</li>	2
Q8N0Z9	54621	<ul><li>V->M at 333: in dbSNP:rs9668527<li>H->Y at 435: in dbSNP:rs7307331</ul>									<li>rs7307331</li><li>rs9668527</li>	2
Q8N103	117289	<ul><li>G->D at 346: in dbSNP:rs35263580</ul>									rs35263580	2
Q8N114	51246	<ul><li>G->R at 216: in dbSNP:rs35750010</ul>									rs35750010	2
Q8N119	118856	<ul><li>A->E at 95: in dbSNP:rs28381282<li>P->Q at 115: in dbSNP:rs28381284<li>A->V at 191: in dbSNP:rs10901425<li>D->E at 263: in dbSNP:rs34811493<li>E->G at 349: in dbSNP:rs28381302<li>A->V at 454: in dbSNP:rs28381319</ul>									<li>rs28381284</li><li>rs28381319</li><li>rs34811493</li><li>rs28381302</li><li>rs10901425</li><li>rs28381282</li>	2
Q8N123	53336	<ul><li>Y->S at 3: in dbSNP:rs5940915<li>R->H at 131: in dbSNP:rs5984611</ul>									<li>rs5984611</li><li>rs5940915</li>	2
Q8N127	219447	<ul><li>R->L at 122: in dbSNP:rs12224086<li>Y->C at 310: in dbSNP:rs17600939</ul>									<li>rs17600939</li><li>rs12224086</li>	2
Q8N130	142680	<ul><li>R->H at 67: in dbSNP:rs34372115<li>S->F at 138: in HHRH, MIM: 241530<li>G->A at 180: in dbSNP:rs35643193, MIM: 241530<li>S->L at 192: in HHRH, MIM: 241530<li>G->R at 196: in HHRH, MIM: 241530<li>D->N at 237, MIM: 241530<li>G->S at 337: in dbSNP:rs35699762, MIM: 241530<li>R->L at 353: in HHRH, MIM: 241530<li>A->E at 413: in HHRH, MIM: 241530<li>R->W at 468: in HHRH, MIM: 241530<li>V->E at 513: in dbSNP:rs28542318, MIM: 241530</ul>								Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	<li>rs28542318</li><li>rs35699762</li><li>rs35643193</li><li>rs34372115</li>	2
Q8N131	114908	<ul><li>V->M at 71: in dbSNP:rs2155587<li>V->F at 86: in dbSNP:rs11547915<li>A->T at 158: in dbSNP:rs12288849</ul>									<li>rs11547915</li><li>rs12288849</li><li>rs2155587</li>	2
Q8N136	164781	<ul><li>T->I at 27: in dbSNP:rs11894733<li>T->S at 121: in dbSNP:rs1715828<li>T->M at 129: in a breast cancer sample; somatic mutation<li>G->S at 259: in dbSNP:rs35027781<li>L->F at 317: in dbSNP:rs35395984</ul>									<li>rs35395984</li><li>rs1715828</li><li>rs11894733</li><li>rs35027781</li>	2
Q8N137	116840	<ul><li>R->Q at 439: in dbSNP:rs35421969<li>P->Q at 578: in dbSNP:rs11650083</ul>									<li>rs35421969</li><li>rs11650083</li>	2
Q8N139	23460	<ul><li>V->I at 282: in dbSNP:rs4968839<li>N->Y at 610: in dbSNP:rs9282554<li>M->I at 698: in dbSNP:rs9282553<li>M->I at 875: in dbSNP:rs7212506<li>N->S at 1322: in dbSNP:rs2302134</ul>									<li>rs9282553</li><li>rs9282554</li><li>rs2302134</li><li>rs4968839</li><li>rs7212506</li>	2
Q8N145	203190	<ul><li>A->T at 524: in dbSNP:rs34112456</ul>									rs34112456	2
Q8N146	390152	<ul><li>P->S at 137: in dbSNP:rs1842691<li>I->V at 201: in dbSNP:rs17531522<li>R->K at 295: in dbSNP:rs11606538</ul>									<li>rs17531522</li><li>rs1842691</li><li>rs11606538</li>	2
Q8N148	346517	<ul><li>S->F at 237: in dbSNP:rs10245778<li>R->K at 269: in dbSNP:rs7791886<li>V->A at 295: in dbSNP:rs7779316</ul>									<li>rs7779316</li><li>rs7791886</li><li>rs10245778</li>	2
Q8N149	11027	<ul><li>H->L at 25: in dbSNP:rs1834697<li>H->N at 25: in dbSNP:rs1834698</ul>									<li>rs1834698</li><li>rs1834697</li>	2
Q8N157	54806	<ul><li>I->N at 49<li>V->D at 443: in JBTS3, MIM: 608629<li>R->H at 548: in dbSNP:rs35433555, MIM: 608629<li>R->Q at 723: in JBTS3, MIM: 608629<li>S->L at 761, MIM: 608629<li>R->W at 830: in dbSNP:rs13312995, MIM: 608629<li>T->S at 856, MIM: 608629<li>Y->C at 933: in dbSNP:rs41288013, MIM: 608629<li>Q->P at 1018: in dbSNP:rs6940875, MIM: 608629<li>S->F at 1123, MIM: 608629<li>P->S at 1140, MIM: 608629</ul>								Joubert syndrome type 3 (JBTS3) [MIM:608629]	<li>rs13312995</li><li>rs6940875</li><li>rs41288013</li><li>rs35433555</li>	2
Q8N158	221914	<ul><li>D->N at 200: in a breast cancer sample; somatic mutation</ul>										2
Q8N159	162417	<ul><li>C->R at 200: in NAGSD; markedly decreases activity, MIM: 237310<li>A->P at 279: in NAGSD, MIM: 237310<li>S->P at 410: in NAGSD; markedly decreases activity, MIM: 237310<li>L->P at 430: in NAGSD; markedly decreases activity, MIM: 237310<li>W->R at 484: in NAGSD; markedly decreases activity, MIM: 237310<li>A->T at 518: in NAGSD; markedly decreases activity, MIM: 237310</ul>								N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]		2
Q8N162	390151	<ul><li>H->Y at 120: in dbSNP:rs2512961<li>Y->C at 169: in dbSNP:rs2449148</ul>									<li>rs2512961</li><li>rs2449148</li>	2
Q8N196		<ul><li>A->T at 158: in BOR2; affects Eya1 binding and the ability to activate gene transcription, MIM: 610896<li>A->T at 296: in BOR2, MIM: 610896<li>G->R at 365: in BOR2, MIM: 610896<li>T->M at 552: in BOR2; affects Eya1 binding and the ability to activate gene transcription, MIM: 610896<li>L->V at 556: in dbSNP:rs2014377, MIM: 610896<li>P->S at 635: in dbSNP:rs2014576, MIM: 610896<li>V->M at 693: in dbSNP:rs2341097, MIM: 610896</ul>	transcription	GO:0006350	binding	GO:0005488			<li>P12383</li><li>P97767</li>	Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]	<li>rs2341097</li><li>rs2014377</li><li>rs2014576</li>	2
Q8N1A6	132321	<ul><li>R->M at 40: in dbSNP:rs35199409<li>S->L at 104: in dbSNP:rs2271570<li>V->M at 107: in dbSNP:rs337277<li>H->R at 166: in dbSNP:rs17351999</ul>									<li>rs17351999</li><li>rs2271570</li><li>rs35199409</li><li>rs337277</li>	2
Q8N1B3	92002	<ul><li>C->S at 183: in dbSNP:rs17850173</ul>									rs17850173	2
Q8N1C3	2565	<ul><li>G->E at 403: in dbSNP:rs17852913</ul>									rs17852913	2
Q8N1D0	5003	<ul><li>R->G at 133: in dbSNP:rs441071</ul>									rs441071	2
Q8N1D5	93190	<ul><li>F->L at 191: in dbSNP:rs1132185</ul>									rs1132185	2
Q8N1E6	144699	<ul><li>L->V at 220: in dbSNP:rs35571553</ul>									rs35571553	2
Q8N1F1	125144	<ul><li>Y->C at 36: in dbSNP:rs35517418<li>S->T at 78: in dbSNP:rs35752829</ul>									<li>rs35517418</li><li>rs35752829</li>	2
Q8N1F7	9688	<ul><li>S->R at 509: in dbSNP:rs17853288</ul>									rs17853288	2
Q8N1F8	114790	<ul><li>R->H at 393: in dbSNP:rs17855575<li>R->G at 410: in dbSNP:rs17855576<li>V->I at 563: in dbSNP:rs673951<li>F->S at 752: in dbSNP:rs627530<li>I->V at 1085: in dbSNP:rs17853279</ul>									<li>rs17855576</li><li>rs627530</li><li>rs17855575</li><li>rs17853279</li><li>rs673951</li>	2
Q8N1G0	57592	<ul><li>G->E at 259: in dbSNP:rs3748545<li>R->T at 344: in dbSNP:rs12045766</ul>									<li>rs3748545</li><li>rs12045766</li>	2
Q8N1G1	57455	<ul><li>S->G at 886: in dbSNP:rs2396359</ul>									rs2396359	2
Q8N1G4	57470	<ul><li>E->D at 193: in a colorectal cancer sample; somatic mutation<li>P->L at 545: in dbSNP:rs11547614<li>V->I at 581: in dbSNP:rs11547615</ul>									<li>rs11547615</li><li>rs11547614</li>	2
Q8N1I0	9732	<ul><li>T->I at 87: in a CNS cancer cell line<li>E->Q at 606<li>K->T at 1059: in a CNS cancer cell line<li>P->L at 1718: in prostate and ovarian cancer cell lines; abolishes ability to interact with CRK and to activate Rap1<li>P->A at 1733<li>S->P at 1755: in colorectal cancer cell line<li>V->M at 1884: in a prostate cancer cell line<li>V->I at 1914: in dbSNP rsrs12705795<li>P->L at 1917<li>S->L at 1926: in dbSNP rsrs34597439</ul>							<li>Q04929</li><li>Q01917</li><li>Q96TL7</li><li>P54664</li><li>P08645</li><li>P53681</li><li>Q91VL8</li><li>P18613</li><li>P46108</li>		<li>rs34597439</li><li>rs12705795</li>	2
Q8N1I2		<ul><li>V->L at 47: in dbSNP:rs8103849</ul>									rs8103849	2
Q8N1K5	387357	<ul><li>V->G at 284: in dbSNP:rs11968051<li>I->V at 630: in dbSNP:rs675531</ul>									<li>rs11968051</li><li>rs675531</li>	2
Q8N1L9	116071	<ul><li>G->S at 6: in dbSNP:rs12419103</ul>									rs12419103	2
Q8N1M1	144453	<ul><li>Y->H at 43: in dbSNP:rs1025016<li>E->G at 622: in dbSNP:rs17106884</ul>									<li>rs17106884</li><li>rs1025016</li>	2
Q8N1N2	284254	<ul><li>V->A at 38: in dbSNP:rs35428499<li>T->P at 189: in dbSNP:rs9947055</ul>									<li>rs9947055</li><li>rs35428499</li>	2
Q8N1N4	196374	<ul><li>R->H at 25: in dbSNP:rs11170289<li>L->P at 92: in dbSNP:rs2013335<li>G->A at 224: in dbSNP:rs2682343<li>A->T at 238: in dbSNP:rs10876360</ul>									<li>rs2682343</li><li>rs11170289</li><li>rs10876360</li><li>rs2013335</li>	2
Q8N1N5	285464	<ul><li>C->Y at 89: in dbSNP:rs13097<li>H->P at 95: in dbSNP:rs9328733<li>V->M at 120: in dbSNP:rs13097</ul>									<li>rs9328733</li><li>rs13097</li>	2
Q8N1P7	55057	<ul><li>S->N at 249: in dbSNP:rs10751735</ul>									rs10751735	2
Q8N1Q8	284486	<ul><li>Y->S at 55: in dbSNP:rs16833597<li>D->G at 197: in dbSNP:rs6587625<li>L->V at 206: in dbSNP:rs6587624</ul>									<li>rs16833597</li><li>rs6587624</li><li>rs6587625</li>	2
Q8N1S5	201266	<ul><li>A->T at 111: in dbSNP:rs2466517</ul>									rs2466517	2
Q8N1T3	283446	<ul><li>S->R at 37: in dbSNP:rs11611277<li>H->Y at 705: in dbSNP:rs34725387<li>L->P at 1011: in dbSNP:rs3825393</ul>									<li>rs34725387</li><li>rs3825393</li><li>rs11611277</li>	2
Q8N1V2	146845	<ul><li>E->K at 336: in dbSNP:rs6503235</ul>									rs6503235	2
Q8N1W0		<ul><li>G->D at 363: in dbSNP:rs1040285<li>P->S at 419: in dbSNP:rs949882<li>V->A at 458: in dbSNP:rs4142466</ul>									<li>rs949882</li><li>rs4142466</li><li>rs1040285</li>	2
Q8N1W1		<ul><li>R->M at 98: in dbSNP:rs12659447<li>W->R at 225: in dbSNP:rs7714670<li>P->Q at 284: in dbSNP:rs6453022<li>S->L at 544: in dbSNP:rs2973571<li>R->K at 585: in dbSNP:rs2973566<li>H->N at 780: in dbSNP:rs2973558<li>P->S at 1548: in dbSNP:rs17634865<li>H->Q at 1640: in dbSNP:rs1478453</ul>									<li>rs6453022</li><li>rs7714670</li><li>rs2973566</li><li>rs1478453</li><li>rs12659447</li><li>rs2973558</li><li>rs2973571</li><li>rs17634865</li>	2
Q8N201	26173	<ul><li>P->L at 172: in dbSNP:rs3752714</ul>									rs3752714	2
Q8N205	163183	<ul><li>S->L at 224: in dbSNP:rs34818970<li>Q->H at 278: in dbSNP:rs2285422</ul>									<li>rs34818970</li><li>rs2285422</li>	2
Q8N228	256380	<ul><li>R->Q at 126: in dbSNP:rs6934505</ul>									rs6934505	2
Q8N271	150696	<ul><li>Q->R at 508: in dbSNP:rs12992066</ul>									rs12992066	2
Q8N283	148741	<ul><li>N->K at 53: in dbSNP:rs6658371<li>P->S at 428: in dbSNP:rs6670984<li>N->D at 978: in dbSNP:rs16827032</ul>									<li>rs6670984</li><li>rs16827032</li><li>rs6658371</li>	2
Q8N292	202309	<ul><li>A->T at 83: in dbSNP:rs35260984</ul>									rs35260984	2
Q8N2A8	201164	<ul><li>L->P at 42: in dbSNP:rs17856924<li>R->H at 108: in dbSNP:rs11551966</ul>									<li>rs11551966</li><li>rs17856924</li>	2
Q8N2B8		<ul><li>R->Q at 127: in a colorectal cancer sample; somatic mutation</ul>										2
Q8N2C3	120863	<ul><li>H->R at 122: in dbSNP:rs7307415</ul>									rs7307415	2
Q8N2C7		<ul><li>R->W at 131: in dbSNP:rs35822936</ul>									rs35822936	2
Q8N2C9		<ul><li>V->F at 98: in dbSNP:rs220111</ul>									rs220111	2
Q8N2E2	221806	<ul><li>N->K at 964: in dbSNP:rs6460939<li>M->T at 1032: in dbSNP:rs2053380<li>Q->K at 1256: in dbSNP:rs6967385<li>F->C at 1485: in dbSNP:rs2192828</ul>									<li>rs6967385</li><li>rs6460939</li><li>rs2192828</li><li>rs2053380</li>	2
Q8N2F6	83787	<ul><li>P->S at 190: in dbSNP:rs17849774</ul>									rs17849774	2
Q8N2G6	219654	<ul><li>E->V at 43: in dbSNP:rs17852581</ul>									rs17852581	2
Q8N2H3	84795	<ul><li>P->S at 428: in dbSNP:rs17856170<li>M->T at 461: in dbSNP:rs2147896<li>A->T at 533: in dbSNP:rs2296441</ul>									<li>rs17856170</li><li>rs2296441</li><li>rs2147896</li>	2
Q8N2I9	83931	<ul><li>A->V at 10: in dbSNP rsrs56314546<li>M->T at 133: in a colorectal adenocarcinoma sample; somatic mutation<li>R->Q at 211: in a colorectal adenocarcinoma sample; somatic mutation<li>A->T at 395: in dbSNP:rs3795498</ul>									<li>rs56314546</li><li>rs3795498</li>	2
Q8N2K0	26090	<ul><li>A->T at 349: in dbSNP:rs746748</ul>									rs746748	2
Q8N2M4	144110	<ul><li>V->A at 215: in dbSNP:rs7945285</ul>									rs7945285	2
Q8N2M8	11129	<ul><li>K->E at 174: in dbSNP:rs4803794<li>L->S at 213: in a breast cancer sample; somatic mutation</ul>									rs4803794	2
Q8N2S1	8425	<ul><li>V->I at 194: in dbSNP:rs2303729<li>R->G at 635: in dbSNP:rs33937741<li>P->A at 679: in dbSNP:rs34299942<li>T->A at 787: in dbSNP:rs1131620<li>T->A at 820: in dbSNP:rs1051303<li>T->M at 1141: in dbSNP:rs10880</ul>									<li>rs34299942</li><li>rs33937741</li><li>rs1051303</li><li>rs1131620</li><li>rs2303729</li><li>rs10880</li>	2
Q8N2U9	80148	<ul><li>G->A at 175: in a colorectal cancer sample; somatic mutation</ul>										2
Q8N2X6	116349	<ul><li>P->S at 50: in dbSNP:rs10035653<li>R->G at 118: in dbSNP:rs10035612</ul>									<li>rs10035612</li><li>rs10035653</li>	2
Q8N2Y8	9853	<ul><li>A->T at 73: in dbSNP:rs1535422<li>P->L at 654: in dbSNP:rs3750427</ul>									<li>rs3750427</li><li>rs1535422</li>	2
Q8N302	55109	<ul><li>E->K at 133: in KTS; in 5 patients; displays a stronger angiogenic activity; dbSNP:rs34203073, MIM: 149000<li>T->A at 180: in dbSNP:rs9715897, MIM: 149000<li>L->P at 471: in dbSNP:rs17856835, MIM: 149000<li>P->T at 698: in dbSNP:rs34400049, MIM: 149000</ul>								Klippel-Trenaunay syndrome (KTS) [MIM:149000]	<li>rs34400049</li><li>rs9715897</li><li>rs34203073</li><li>rs17856835</li>	2
Q8N307	200958	<ul><li>C->S at 3: in dbSNP:rs7627924<li>V->G at 18: in dbSNP:rs1811139<li>Missing at 130-376<li>Missing at 184-354<li>Missing at 203-354<li>Missing at 241-354<li>I->T at 442: in dbSNP:rs2550232<li>Missing at 483-533<li>P->L at 590: in dbSNP:rs3828408<li>R->W at 666: in dbSNP:rs11923495<li>S->C at 671: in dbSNP:rs3762739</ul>									<li>rs11923495</li><li>rs3762739</li><li>rs1811139</li><li>rs7627924</li><li>rs2550232</li><li>rs3828408</li>	2
Q8N309	254050	<ul><li>Q->K at 256: in dbSNP:rs11060094</ul>									rs11060094	2
Q8N319	221416	<ul><li>K->E at 48: in dbSNP:rs2295333</ul>									rs2295333	2
Q8N323	120400	<ul><li>G->R at 353: in dbSNP:rs10891692<li>I->T at 423: in dbSNP:rs34993124</ul>									<li>rs10891692</li><li>rs34993124</li>	2
Q8N326	221060	<ul><li>R->K at 70: in dbSNP:rs7896053</ul>									rs7896053	2
Q8N328	267004	<ul><li>K->R at 382: in dbSNP:rs4253072<li>D->G at 415: in a breast cancer sample; somatic mutation<li>Q->E at 446: in dbSNP:rs11101143</ul>									<li>rs11101143</li><li>rs4253072</li>	2
Q8N335	23171	<ul><li>E->K at 83: in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 272120<li>I->V at 124: in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 272120<li>L->F at 178: in dbSNP:rs35447795, MIM: 272120<li>R->C at 273: in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 272120<li>A->V at 280: in BRS2; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 611777</ul>					membrane	GO:0016020	<li>Q14524</li><li>P29320</li>	<li>Brugada syndrome type 2 (BRS2) [MIM:611777]</li><li>Sudden infant death syndrome (SIDS) [MIM:272120]</li>	rs35447795	2
Q8N339	4499	<ul><li>T->K at 20: in dbSNP:rs1827210</ul>									rs1827210	2
Q8N344	54531	<ul><li>D->N at 68: in dbSNP:rs7507468<li>D->N at 104: in dbSNP:rs10421231<li>P->S at 464: in dbSNP:rs34129568<li>S->G at 485: in dbSNP:rs35042658</ul>									<li>rs34129568</li><li>rs7507468</li><li>rs35042658</li><li>rs10421231</li>	2
Q8N349	284521	<ul><li>L->F at 156: in dbSNP:rs12742561</ul>									rs12742561	2
Q8N371	79831	<ul><li>E->D at 302: in dbSNP:rs34445573</ul>									rs34445573	2
Q8N386	126364	<ul><li>P->S at 294: in dbSNP:rs6512265</ul>									rs6512265	2
Q8N387	143662	<ul><li>S->W at 19: in dbSNP:rs293979<li>I->T at 184: in dbSNP:rs2292290<li>T->I at 202: in dbSNP:rs15783</ul>									<li>rs15783</li><li>rs293979</li><li>rs2292290</li>	2
Q8N394	160335	<ul><li>A->T at 315: in dbSNP:rs1201791<li>Y->S at 443: in dbSNP:rs17010106<li>D->Y at 741: in dbSNP:rs428398</ul>									<li>rs17010106</li><li>rs428398</li><li>rs1201791</li>	2
Q8N398	90113	<ul><li>P->S at 211: in dbSNP:rs902417</ul>									rs902417	2
Q8N3A8	79668	<ul><li>S->A at 777: in a colorectal cancer sample; somatic mutation</ul>										2
Q8N3C0	10973	<ul><li>L->F at 146: in dbSNP:rs9390698<li>E->K at 344: in dbSNP:rs6918004<li>N->S at 478: in dbSNP:rs7750940<li>V->I at 1050: in dbSNP:rs9497983<li>V->A at 1425: in dbSNP:rs17246013<li>R->T at 1497: in dbSNP:rs17305382<li>C->W at 1800: in dbSNP:rs35011147<li>V->M at 1930: in dbSNP:rs3213542<li>S->C at 1995: in dbSNP:rs240780<li>Y->C at 2176: in dbSNP:rs240768</ul>									<li>rs240768</li><li>rs35011147</li><li>rs9497983</li><li>rs240780</li><li>rs17246013</li><li>rs3213542</li><li>rs17305382</li><li>rs9390698</li><li>rs7750940</li><li>rs6918004</li>	2
Q8N3C7	79745	<ul><li>R->L at 486: in dbSNP:rs3100246<li>T->P at 613: in dbSNP:rs34327508</ul>									<li>rs34327508</li><li>rs3100246</li>	2
Q8N3D4	254102	<ul><li>R->Q at 307: in dbSNP:rs3741380<li>V->G at 538: in dbSNP:rs6591182<li>D->V at 569: in dbSNP:rs1194099<li>T->I at 599: in dbSNP:rs7931052<li>T->I at 648: in dbSNP:rs7931269</ul>									<li>rs3741380</li><li>rs1194099</li><li>rs6591182</li><li>rs7931269</li><li>rs7931052</li>	2
Q8N3E9	113026	<ul><li>P->L at 652: in dbSNP:rs734921</ul>									rs734921	2
Q8N3F8	85377	<ul><li>A->S at 519: in dbSNP:rs9610875<li>P->L at 583: in dbSNP:rs2272829<li>H->R at 685: in dbSNP:rs34834842<li>E->K at 817: in a breast cancer sample; somatic mutation</ul>									<li>rs9610875</li><li>rs2272829</li><li>rs34834842</li>	2
Q8N3F9	283554	<ul><li>V->I at 248: in dbSNP:rs762063</ul>									rs762063	2
Q8N3G9	222865	<ul><li>E->V at 407: in dbSNP:rs17161477</ul>									rs17161477	2
Q8N3I7	129880	<ul><li>N->S at 184: in BBS5, MIM: 209900<li>R->H at 207: in BBS5; may have a modifying effect on BBS phenotype: in dbSNP rsrs35487251, MIM: 209900</ul>							<li>Q8N3I7</li><li>Q4R649</li>	Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]	rs35487251	2
Q8N3J2	64863	<ul><li>L->F at 163: in dbSNP:rs12606220<li>K->Q at 310: in dbSNP:rs2677879<li>L->V at 468: in dbSNP:rs8084295</ul>									<li>rs12606220</li><li>rs2677879</li><li>rs8084295</li>	2
Q8N3J3	78995	<ul><li>T->P at 126: in dbSNP:rs227584</ul>									rs227584	2
Q8N3J5	152926	<ul><li>N->K at 94: in dbSNP:rs17853762<li>E->K at 321: in dbSNP:rs35523553</ul>									<li>rs35523553</li><li>rs17853762</li>	2
Q8N3K9	202333	<ul><li>Y->C at 64: in dbSNP:rs16877109<li>Q->H at 175: in dbSNP:rs6895605<li>D->G at 190: in dbSNP:rs10942901<li>G->D at 349: in dbSNP:rs1366271<li>G->D at 591: in dbSNP:rs16877124<li>V->A at 1006: in dbSNP:rs6893869<li>A->V at 1295: in dbSNP:rs4704585<li>I->V at 1309: in dbSNP:rs16877133<li>A->V at 1333: in dbSNP:rs16877135<li>I->V at 1380: in dbSNP:rs13158477<li>A->E at 1567: in dbSNP:rs1428223<li>S->A at 1599: in dbSNP:rs1428224<li>L->S at 1669: in dbSNP:rs1019762<li>I->N at 1713: in dbSNP:rs16877141<li>I->V at 1721: in dbSNP:rs1428225<li>A->V at 1875: in dbSNP:rs16877147<li>D->G at 1917: in dbSNP:rs16877150<li>S->G at 1920: in dbSNP:rs16877151<li>V->L at 2262: in dbSNP:rs6859595<li>K->E at 2383: in dbSNP:rs7721884<li>T->I at 2693: in dbSNP:rs28362541<li>K->N at 2906: in dbSNP:rs2278239<li>G->R at 2935: in dbSNP:rs2278240<li>H->Q at 3358: in dbSNP:rs3828611<li>K->E at 3583: in dbSNP:rs12514461<li>R->Q at 3927: in dbSNP:rs1129770<li>P->L at 4063: in dbSNP:rs10043986</ul>									<li>rs16877124</li><li>rs1366271</li><li>rs13158477</li><li>rs16877109</li><li>rs1129770</li><li>rs12514461</li><li>rs1428225</li><li>rs1428224</li><li>rs1428223</li><li>rs7721884</li><li>rs10942901</li><li>rs16877133</li><li>rs6895605</li><li>rs3828611</li><li>rs10043986</li><li>rs16877150</li><li>rs16877151</li><li>rs1019762</li><li>rs16877135</li><li>rs6859595</li><li>rs4704585</li><li>rs6893869</li><li>rs2278240</li><li>rs28362541</li><li>rs2278239</li><li>rs16877141</li><li>rs16877147</li>	2
Q8N3L3	167838	<ul><li>A->T at 11: in dbSNP:rs9321712<li>P->A at 650: in dbSNP:rs9495391</ul>									<li>rs9321712</li><li>rs9495391</li>	2
Q8N3P4	23355	<ul><li>V->I at 83: in dbSNP:rs9830734<li>H->Y at 1165: in dbSNP:rs11555405<li>I->T at 1364: in dbSNP:rs3821750<li>R->H at 1372: in dbSNP:rs16859527</ul>									<li>rs9830734</li><li>rs16859527</li><li>rs11555405</li><li>rs3821750</li>	2
Q8N3R3	285343	<ul><li>H->P at 4: in dbSNP:rs35830741</ul>									rs35830741	2
Q8N3T1	117248	<ul><li>V->G at 68: in dbSNP:rs36026882<li>P->L at 151: in dbSNP:rs11715981<li>P->A at 324: in dbSNP:rs12634179<li>A->T at 432: in dbSNP:rs17851238<li>H->Y at 510: in dbSNP:rs2271077</ul>									<li>rs11715981</li><li>rs2271077</li><li>rs36026882</li><li>rs17851238</li><li>rs12634179</li>	2
Q8N3T6		<ul><li>H->R at 160: in dbSNP:rs11059681<li>V->M at 231: in dbSNP:rs12307622<li>V->I at 271: in dbSNP:rs1683723<li>V->I at 443: in dbSNP:rs4272850<li>T->S at 729: in dbSNP:rs12426596<li>F->I at 798: in dbSNP:rs12301587<li>R->G at 809: in dbSNP:rs12424159</ul>									<li>rs1683723</li><li>rs12424159</li><li>rs12426596</li><li>rs12301587</li><li>rs11059681</li><li>rs4272850</li><li>rs12307622</li>	2
Q8N3X1	23360	<ul><li>E->G at 125: in dbSNP:rs34962598<li>T->A at 794: in dbSNP:rs35040940</ul>									<li>rs35040940</li><li>rs34962598</li>	2
Q8N3Y3	120071	<ul><li>E->K at 37: in dbSNP:rs17853729<li>R->W at 546: in dbSNP:rs11038713<li>R->C at 677: in dbSNP:rs2271851</ul>									<li>rs2271851</li><li>rs11038713</li><li>rs17853729</li>	2
Q8N3Y7	195814	<ul><li>R->W at 62: in dbSNP:rs4151643</ul>									rs4151643	2
Q8N3Z0	167681	<ul><li>R->Q at 224: in dbSNP:rs504593</ul>									rs504593	2
Q8N3Z3	29083	<ul><li>Q->H at 242: in dbSNP:rs1054263</ul>									rs1054263	2
Q8N402		<ul><li>P->L at 97: in dbSNP:rs12169718<li>T->S at 114: in dbSNP:rs6519443<li>T->P at 131: in dbSNP:rs6519442</ul>									<li>rs6519443</li><li>rs6519442</li><li>rs12169718</li>	2
Q8N412	285555	<ul><li>C->W at 111: in dbSNP:rs13131259<li>F->V at 112: in dbSNP:rs13131258<li>Y->H at 125: in dbSNP:rs17558193<li>I->V at 178: in dbSNP:rs2903150<li>K->R at 279: in dbSNP:rs7654193<li>V->A at 420: in dbSNP:rs17026871</ul>									<li>rs7654193</li><li>rs17558193</li><li>rs13131258</li><li>rs17026871</li><li>rs2903150</li><li>rs13131259</li>	2
Q8N413	283130	<ul><li>M->V at 224: in dbSNP:rs624307<li>R->Q at 251: in dbSNP:rs7108281</ul>									<li>rs624307</li><li>rs7108281</li>	2
Q8N414	79605	<ul><li>V->M at 127: in dbSNP:rs2009265</ul>									rs2009265	2
Q8N423	10288	<ul><li>H->R at 20: in dbSNP:rs383369<li>D->E at 161: in dbSNP:rs373032<li>V->M at 235: in dbSNP:rs386056<li>Y->H at 300: in dbSNP:rs7247538<li>W->C at 306: in dbSNP:rs7247451<li>T->R at 324: in dbSNP:rs7247055<li>F->S at 326: in dbSNP:rs7246737<li>R->G at 349: in dbSNP:rs7247025</ul>									<li>rs386056</li><li>rs7247451</li><li>rs7247055</li><li>rs7247538</li><li>rs373032</li><li>rs383369</li><li>rs7247025</li><li>rs7246737</li>	2
Q8N427	51314	<ul><li>R->K at 43: in dbSNP:rs2722372<li>C->R at 208: in dbSNP:rs10250905<li>I->T at 289: in a breast cancer sample; somatic mutation</ul>									<li>rs10250905</li><li>rs2722372</li>	2
Q8N434	136306	<ul><li>F->C at 385: in dbSNP:rs2305816</ul>									rs2305816	2
Q8N436	119587	<ul><li>R->Q at 750: in dbSNP:rs7088479</ul>									rs7088479	2
Q8N441	53834	<ul><li>P->Q at 362: in dbSNP:rs4647930<li>P->L at 464: in dbSNP:rs4647932</ul>									<li>rs4647930</li><li>rs4647932</li>	2
Q8N442	60558	<ul><li>L->P at 58: in dbSNP:rs6447368<li>T->I at 329: in dbSNP:rs10470742</ul>									<li>rs6447368</li><li>rs10470742</li>	2
Q8N448	222484	<ul><li>S->P at 198: in dbSNP:rs8002697</ul>									rs8002697	2
Q8N456	474354	<ul><li>G->V at 7: in dbSNP:rs7094610<li>R->H at 31: in dbSNP:rs17772611</ul>									<li>rs7094610</li><li>rs17772611</li>	2
Q8N461	146330	<ul><li>L->P at 429: in dbSNP:rs17855603</ul>									rs17855603	2
Q8N465	728294	<ul><li>R->G at 15: in dbSNP rsrs4675887<li>I->S at 147: in D2HGA; severe phenotype; loss of catalytic activity, MIM: 600721<li>V->I at 338: in dbSNP:rs1106639, MIM: 600721<li>A->V at 361: in dbSNP:rs1105273, MIM: 600721<li>D->Y at 375: in D2HGA, MIM: 600721<li>G->V at 436, MIM: 600721<li>N->D at 439: in D2HGA; mild phenotype; altered catalytic activity, MIM: 600721<li>V->A at 444: in D2HGA; severe phenotype; altered catalytic activity, MIM: 600721</ul>			catalytic activity	GO:0003824				D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	<li>rs4675887</li><li>rs1106639</li><li>rs1105273</li>	2
Q8N468	148808	<ul><li>L->I at 228: in dbSNP:rs17857119<li>G->A at 314: in dbSNP:rs7526132</ul>									<li>rs17857119</li><li>rs7526132</li>	2
Q8N475	56884	<ul><li>L->I at 92: in a colorectal cancer sample; somatic mutation<li>D->Y at 711: in dbSNP:rs3749598<li>K->E at 815: in dbSNP:rs17040982</ul>									<li>rs3749598</li><li>rs17040982</li>	2
Q8N485	167410	<ul><li>R->I at 3: in dbSNP:rs11558079</ul>									rs11558079	2
Q8N490	25953	<ul><li>A->V at 7: in DYT8<li>A->V at 9: in DYT8</ul>										2
Q8N4A0	8693	<ul><li>I->T at 270: in dbSNP:rs2230281<li>V->I at 506: in dbSNP:rs2230283</ul>									<li>rs2230281</li><li>rs2230283</li>	2
Q8N4B4	162517	<ul><li>P->S at 10: in dbSNP:rs4796555<li>Y->C at 166: in dbSNP:rs16956264<li>S->T at 221: in dbSNP:rs4143218<li>L->F at 231: in dbSNP:rs1509123<li>I->M at 363: in dbSNP:rs7213731</ul>									<li>rs4143218</li><li>rs16956264</li><li>rs7213731</li><li>rs1509123</li><li>rs4796555</li>	2
Q8N4B5	285800	<ul><li>S->C at 136: in dbSNP:rs7757150</ul>									rs7757150	2
Q8N4C6	51199	<ul><li>P->A at 1111: in dbSNP:rs2236316<li>P->Q at 1125: in dbSNP:rs12882191<li>E->G at 1320: in dbSNP:rs2073347<li>S->T at 1837: in dbSNP:rs12717411<li>Q->E at 1934: in dbSNP:rs2295847</ul>									<li>rs12717411</li><li>rs2073347</li><li>rs2236316</li><li>rs12882191</li><li>rs2295847</li>	2
Q8N4C8	50488	<ul><li>A->T at 514<li>A->V at 771<li>L->P at 775<li>V->I at 863<li>E->V at 1010: in a gastric adenocarcinoma sample; somatic mutation<li>I->V at 1200</ul>										2
Q8N4C9	284099	<ul><li>S->T at 152: in dbSNP:rs1714987</ul>									rs1714987	2
Q8N4F0	80341	<ul><li>A->V at 20: in a colorectal cancer sample; somatic mutation<li>K->M at 31: in dbSNP:rs6088066<li>A->V at 63: in dbSNP:rs34128772</ul>									<li>rs6088066</li><li>rs34128772</li>	2
Q8N4F7	285533	<ul><li>M->V at 159: in dbSNP:rs10517577<li>L->F at 307: in dbSNP:rs1337<li>I->M at 315: in dbSNP:rs1339<li>N->I at 322: in dbSNP:rs2405432</ul>									<li>rs10517577</li><li>rs1339</li><li>rs2405432</li><li>rs1337</li>	2
Q8N4H0	55064	<ul><li>R->G at 243: in dbSNP:rs10974657<li>A->T at 310: in dbSNP:rs16921613</ul>									<li>rs10974657</li><li>rs16921613</li>	2
Q8N4M1	126969	<ul><li>I->V at 438: in dbSNP:rs859098</ul>									rs859098	2
Q8N4N8	84643	<ul><li>A->V at 112: in dbSNP:rs3803824<li>G->R at 128: in dbSNP:rs9912492<li>S->P at 417: in dbSNP:rs4561518<li>G->R at 437: in dbSNP:rs4561519</ul>									<li>rs3803824</li><li>rs4561518</li><li>rs9912492</li><li>rs4561519</li>	2
Q8N4P2	150737	<ul><li>H->R at 117: in dbSNP:rs11694988<li>I->V at 446: in dbSNP:rs2695315</ul>									<li>rs2695315</li><li>rs11694988</li>	2
Q8N4P6	149499	<ul><li>R->H at 483: in dbSNP:rs12119908<li>S->A at 503: in dbSNP:rs822431</ul>									<li>rs822431</li><li>rs12119908</li>	2
Q8N4Q0	284273	<ul><li>C->F at 323: in dbSNP:rs17056661</ul>									rs17056661	2
Q8N4S0	79780	<ul><li>K->R at 128: in dbSNP:rs3748261<li>Q->E at 149: in dbSNP:rs17851661<li>Q->R at 327: in dbSNP:rs10831519</ul>									<li>rs17851661</li><li>rs3748261</li><li>rs10831519</li>	2
Q8N4S9	153562	<ul><li>I->T at 33: in dbSNP:rs1185246</ul>									rs1185246	2
Q8N4T0	57094	<ul><li>F->L at 45: in dbSNP:rs10957393<li>S->C at 173: in dbSNP:rs17853192<li>N->S at 249: in dbSNP:rs17343819</ul>									<li>rs17853192</li><li>rs10957393</li><li>rs17343819</li>	2
Q8N4T4	84904	<ul><li>H->R at 306: in dbSNP:rs2297879</ul>									rs2297879	2
Q8N4T8	84869	<ul><li>M->L at 70: in dbSNP:rs2877380</ul>									rs2877380	2
Q8N4U5	255394	<ul><li>A->T at 41: in dbSNP:rs4964460<li>A->S at 82: in dbSNP:rs11837375<li>D->N at 261: in dbSNP:rs17218950</ul>									<li>rs17218950</li><li>rs4964460</li><li>rs11837375</li>	2
Q8N4W9	388558	<ul><li>K->N at 134: in dbSNP:rs329964<li>D->N at 262: in dbSNP:rs329965</ul>									<li>rs329964</li><li>rs329965</li>	2
Q8N4X5	84632	<ul><li>G->R at 138: in dbSNP:rs11196689<li>S->R at 366: in dbSNP:rs7075067<li>T->S at 522: in dbSNP:rs2781806<li>E->K at 726: in dbSNP:rs11599051</ul>									<li>rs7075067</li><li>rs11599051</li><li>rs2781806</li><li>rs11196689</li>	2
Q8N4Y2	283229	<ul><li>Q->R at 77: in dbSNP:rs7126805<li>E->K at 153: in dbSNP:rs28558789<li>G->S at 173: in dbSNP:rs35567200<li>I->S at 248: in dbSNP:rs4075289</ul>									<li>rs35567200</li><li>rs4075289</li><li>rs28558789</li><li>rs7126805</li>	2
Q8N511	147007	<ul><li>V->I at 158: in dbSNP:rs12572<li>L->V at 166: in dbSNP:rs36106147</ul>									<li>rs36106147</li><li>rs12572</li>	2
Q8N543	55239	<ul><li>P->S at 173: in dbSNP:rs34883368</ul>									rs34883368	2
Q8N554	92822	<ul><li>R->W at 263: in dbSNP:rs6500437<li>R->W at 275: may increase breast cancer risk: in dbSNP rsrs17719249<li>R->W at 351: in dbSNP:rs17719249<li>E->D at 605: in dbSNP:rs17227424</ul>									<li>rs17719249</li><li>rs17227424</li><li>rs6500437</li>	2
Q8N556	60312	<ul><li>S->C at 403: in dbSNP:rs28406288<li>V->M at 518: in dbSNP:rs41264705</ul>									<li>rs41264705</li><li>rs28406288</li>	2
Q8N565	55686	<ul><li>G->R at 15: in dbSNP:rs1864253</ul>									rs1864253	2
Q8N567	84240	<ul><li>P->A at 15: in dbSNP:rs16878594</ul>									rs16878594	2
Q8N568	166614	<ul><li>G->C at 119: in dbSNP rsrs56327537<li>R->H at 372: in dbSNP rsrs34386880<li>I->V at 583: in dbSNP rsrs35745104</ul>									<li>rs56327537</li><li>rs35745104</li><li>rs34386880</li>	2
Q8N573	55074	<ul><li>E->G at 11: in dbSNP rsrs28921397<li>Q->P at 271: in dbSNP rsrs28921419<li>K->R at 427: in dbSNP rsrs28921420</ul>									<li>rs28921419</li><li>rs28921397</li><li>rs28921420</li>	2
Q8N5A5	84619	<ul><li>S->R at 61: in dbSNP:rs1291212</ul>									rs1291212	2
Q8N5B7	91012	<ul><li>C->R at 75: in dbSNP:rs7302981</ul>									rs7302981	2
Q8N5C7	56986	<ul><li>L->P at 9: in dbSNP:rs11539522<li>E->K at 13: in dbSNP:rs11539519<li>S->P at 25: in dbSNP:rs11539521</ul>									<li>rs11539522</li><li>rs11539521</li><li>rs11539519</li>	2
Q8N5D6	26301	<ul><li>L->F at 20: in dbSNP:rs2073924<li>S->G at 21: in dbSNP:rs35578482<li>L->P at 79: in dbSNP:rs12350913<li>R->W at 163: in dbSNP rsrs34260370<li>D->N at 200: in dbSNP rsrs34903033<li>Q->P at 238: in dbSNP:rs35366884<li>T->I at 248: in dbSNP rsrs35184631<li>I->F at 291: in dbSNP:rs35403335</ul>									<li>rs35184631</li><li>rs35403335</li><li>rs34260370</li><li>rs2073924</li><li>rs35366884</li><li>rs34903033</li><li>rs12350913</li><li>rs35578482</li>	2
Q8N5F7	79576	<ul><li>P->H at 115: in dbSNP:rs34728541</ul>									rs34728541	2
Q8N5G0		<ul><li>A->T at 41: in dbSNP:rs2305669<li>S->N at 65: in dbSNP:rs6448414<li>H->N at 76: in dbSNP:rs2305670<li>A->T at 109: in dbSNP:rs4521339</ul>									<li>rs4521339</li><li>rs2305670</li><li>rs6448414</li><li>rs2305669</li>	2
Q8N5H7	10044	<ul><li>L->F at 23: in dbSNP:rs10760500</ul>									rs10760500	2
Q8N5I2	92714	<ul><li>G->C at 363: in dbSNP:rs35018943</ul>									rs35018943	2
Q8N5I4	207063	<ul><li>V->L at 247: in dbSNP:rs1127915<li>H->R at 292: in dbSNP:rs3210910<li>E->K at 297: in dbSNP:rs12010</ul>									<li>rs1127915</li><li>rs3210910</li><li>rs12010</li>	2
Q8N5J2	55793	<ul><li>K->T at 385: in dbSNP:rs2925741</ul>									rs2925741	2
Q8N5M1	91647	<ul><li>W->G at 94: in ATPAF2 deficiency, MIM: 604273</ul>							Q8N5M1	Complex V mitochondrial respiratory chain ATPAF2 subunit deficiency (ATPAF2 deficiency) [MIM:604273]		2
Q8N5N7	54534	<ul><li>L->F at 127: in dbSNP:rs8131</ul>									rs8131	2
Q8N5R6	80125	<ul><li>M->V at 635: in dbSNP:rs2277603<li>R->L at 640: in dbSNP:rs2277604<li>S->N at 683: in dbSNP:rs1564782<li>S->Y at 940: in dbSNP:rs4887136</ul>									<li>rs4887136</li><li>rs1564782</li><li>rs2277604</li><li>rs2277603</li>	2
Q8N5S1	284427	<ul><li>G->S at 144: in dbSNP:rs34488963<li>T->S at 258: in dbSNP:rs11883242</ul>									<li>rs11883242</li><li>rs34488963</li>	2
Q8N5S3	129852	<ul><li>L->P at 254: in dbSNP:rs2280718<li>R->T at 275: in dbSNP:rs13184</ul>									<li>rs13184</li><li>rs2280718</li>	2
Q8N5S9	84254	<ul><li>E->G at 375: in dbSNP:rs7214723</ul>									rs7214723	2
Q8N5T2	55296	<ul><li>S->G at 241: in dbSNP:rs16878555<li>F->S at 509: in dbSNP:rs17852970</ul>									<li>rs16878555</li><li>rs17852970</li>	2
Q8N5U0	160298	<ul><li>P->S at 242: in dbSNP:rs10769671</ul>									rs10769671	2
Q8N5U1	219995	<ul><li>S->G at 20: in dbSNP:rs12363342<li>L->R at 47: in dbSNP:rs1032939</ul>									<li>rs12363342</li><li>rs1032939</li>	2
Q8N5U6	9921	<ul><li>L->F at 332: in dbSNP:rs17852961<li>E->D at 433: in dbSNP:rs16950277</ul>									<li>rs16950277</li><li>rs17852961</li>	2
Q8N5V2	25791	<ul><li>R->G at 78: in dbSNP:rs2271703<li>M->T at 111: in dbSNP:rs4973588</ul>									<li>rs4973588</li><li>rs2271703</li>	2
Q8N5W8	196792	<ul><li>P->L at 2: in dbSNP:rs1891110</ul>									rs1891110	2
Q8N5Y2	10943	<ul><li>K->Q at 199: in dbSNP:rs1051595<li>V->I at 251: in dbSNP:rs1051600</ul>									<li>rs1051600</li><li>rs1051595</li>	2
Q8N5Y8	54956	<ul><li>S->P at 280: in dbSNP:rs17852901</ul>									rs17852901	2
Q8N5Z5	79734	<ul><li>R->G at 51: in dbSNP:rs17852877</ul>									rs17852877	2
Q8N612	84067	<ul><li>M->T at 491: in dbSNP:rs3750944<li>R->L at 619: in dbSNP:rs3750943<li>Q->H at 754: in dbSNP:rs11040808</ul>									<li>rs3750944</li><li>rs3750943</li><li>rs11040808</li>	2
Q8N614	80008	<ul><li>Y->C at 48: in dbSNP:rs35576563<li>S->P at 105: in dbSNP:rs11542133<li>M->T at 212: in dbSNP:rs2276887</ul>									<li>rs11542133</li><li>rs2276887</li><li>rs35576563</li>	2
Q8N628	81472	<ul><li>T->A at 20: in dbSNP:rs6697472<li>P->S at 68: in dbSNP:rs6657127<li>R->S at 129: in dbSNP:rs34220133</ul>									<li>rs34220133</li><li>rs6657127</li><li>rs6697472</li>	2
Q8N635	254528	<ul><li>I->T at 261: in dbSNP:rs9806945</ul>									rs9806945	2
Q8N655	26148	<ul><li>N->S at 49: in dbSNP:rs11188980<li>L->P at 314: in dbSNP:rs7082522<li>E->G at 396: in dbSNP:rs35128733<li>P->A at 401: in dbSNP:rs34104025<li>I->L at 535: in dbSNP:rs3829856<li>T->P at 556: in dbSNP:rs7894200</ul>									<li>rs3829856</li><li>rs7894200</li><li>rs35128733</li><li>rs11188980</li><li>rs7082522</li><li>rs34104025</li>	2
Q8N660	284565	<ul><li>P->Q at 615: in dbSNP:rs6695216</ul>									rs6695216	2
Q8N661	255043	<ul><li>A->T at 176: in dbSNP:rs35608872<li>R->H at 199: in dbSNP:rs4644955</ul>									<li>rs4644955</li><li>rs35608872</li>	2
Q8N697	121260	<ul><li>V->A at 239: in dbSNP:rs33990080</ul>									rs33990080	2
Q8N699	80177	<ul><li>G->S at 119: in dbSNP:rs17710008<li>R->G at 127: in dbSNP:rs17852097</ul>									<li>rs17852097</li><li>rs17710008</li>	2
Q8N6C7		<ul><li>R->S at 73: in dbSNP:rs11878617<li>H->Q at 91: in dbSNP:rs3760955</ul>									<li>rs11878617</li><li>rs3760955</li>	2
Q8N6C8	11026	<ul><li>P->S at 3: in dbSNP:rs11574606<li>L->R at 107: in dbSNP:rs6509862<li>Y->H at 301: in dbSNP:rs4473306</ul>									<li>rs11574606</li><li>rs6509862</li><li>rs4473306</li>	2
Q8N6D2	221687	<ul><li>V->A at 43: in a colorectal cancer sample; somatic mutation<li>P->L at 58: in a colorectal cancer sample; somatic mutation</ul>										2
Q8N6D5	147463	<ul><li>V->M at 95: in a breast cancer sample; somatic mutation<li>G->E at 112: in dbSNP:rs17855552</ul>									rs17855552	2
Q8N6F1	149461	<ul><li>L->F at 13: in dbSNP:rs12065961<li>G->D at 20: in HOMGO; perinuclear retention of the mutant protein, MIM: 248190<li>Q->E at 57: in HOMGO; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted, MIM: 248190<li>L->P at 90: in HOMGO, MIM: 248190</ul>					cell membrane	GO:0005886		Hypomagnesemia renal with ocular involvement (HOMGO) [MIM:248190]	rs12065961	2
Q8N6G2	122046	<ul><li>K->N at 231: in dbSNP:rs9533168</ul>									rs9533168	2
Q8N6G5	55454	<ul><li>E->K at 215: in dbSNP:rs11238456<li>P->S at 479: in dbSNP:rs2435381</ul>									<li>rs2435381</li><li>rs11238456</li>	2
Q8N6G6	92949	<ul><li>S->N at 242: in dbSNP:rs776755</ul>									rs776755	2
Q8N6H7	84364	<ul><li>P->R at 143: in dbSNP:rs11542793<li>R->H at 339: in dbSNP:rs34662994<li>R->W at 406: in dbSNP:rs35950498<li>S->N at 411: in dbSNP:rs3740691</ul>									<li>rs35950498</li><li>rs3740691</li><li>rs34662994</li><li>rs11542793</li>	2
Q8N6I1	163126	<ul><li>A->T at 6: in dbSNP:rs7252027<li>E->A at 60: in dbSNP:rs3746086</ul>									<li>rs3746086</li><li>rs7252027</li>	2
Q8N6K7	154075	<ul><li>E->K at 94: in dbSNP:rs17852709</ul>									rs17852709	2
Q8N6L1	200185	<ul><li>G->V at 32: in dbSNP:rs17854920</ul>									rs17854920	2
Q8N6M0	51633	<ul><li>R->Q at 283: in dbSNP:rs3210518</ul>									rs3210518	2
Q8N6M6	84909	<ul><li>V->A at 179: in dbSNP:rs16911679</ul>									rs16911679	2
Q8N6M8	132141	<ul><li>Q->K at 76: in dbSNP:rs17852683<li>R->Q at 114: in dbSNP:rs11927897</ul>									<li>rs17852683</li><li>rs11927897</li>	2
Q8N6N2	148014	<ul><li>L->P at 223: in dbSNP:rs11553464</ul>									rs11553464	2
Q8N6P7	58985	<ul><li>S->P at 130: in dbSNP:rs34900099<li>V->I at 205: in dbSNP:rs16829204<li>A->S at 209: in dbSNP:rs34379702<li>L->P at 222: in dbSNP:rs34782294<li>M->V at 407: in dbSNP:rs35401673<li>R->G at 518: in dbSNP:rs3795299</ul>									<li>rs3795299</li><li>rs35401673</li><li>rs16829204</li><li>rs34900099</li><li>rs34782294</li><li>rs34379702</li>	2
Q8N6Q3	57126	<ul><li>A->P at 3: in dbSNP rsrs45441892<li>L->F at 119<li>L->I at 251: in dbSNP:rs10425835<li>R->Q at 323<li>A->T at 348: in dbSNP:rs17856829<li>F->S at 379</ul>									<li>rs45441892</li><li>rs10425835</li><li>rs17856829</li>	2
Q8N6Q8	84190	<ul><li>K->Q at 249: in dbSNP:rs4296098</ul>									rs4296098	2
Q8N6R0	51603	<ul><li>M->V at 105: in dbSNP:rs2232816<li>M->I at 359: in dbSNP:rs2232819</ul>									<li>rs2232816</li><li>rs2232819</li>	2
Q8N6S4	81573	<ul><li>T->S at 413: in dbSNP:rs17852616</ul>									rs17852616	2
Q8N6T3	55738	<ul><li>V->M at 184: in dbSNP:rs2273499</ul>									rs2273499	2
Q8N6T7	51548	<ul><li>S->N at 46: in dbSNP:rs352493</ul>									rs352493	2
Q8N6W0	60680	<ul><li>F->L at 65: in dbSNP:rs17854481</ul>									rs17854481	2
Q8N6Y0	83878	<ul><li>M->V at 439: in dbSNP:rs9676419<li>V->M at 525: in dbSNP:rs12459398<li>A->V at 677: in dbSNP:rs1043963</ul>									<li>rs1043963</li><li>rs9676419</li><li>rs12459398</li>	2
Q8N6Y1		<ul><li>V->M at 496: in a breast cancer sample; somatic mutation</ul>										2
Q8N6Y2	10234	<ul><li>T->I at 95: in dbSNP:rs34613342<li>K->E at 119: in dbSNP:rs3800939<li>G->A at 187: in dbSNP:rs1057066</ul>									<li>rs3800939</li><li>rs1057066</li><li>rs34613342</li>	2
Q8N715	164127	<ul><li>V->A at 195: in dbSNP:rs6689850<li>D->G at 329: in dbSNP:rs10907376<li>R->W at 331: in dbSNP:rs6682552<li>L->R at 380: in dbSNP:rs17852896</ul>									<li>rs10907376</li><li>rs6689850</li><li>rs17852896</li><li>rs6682552</li>	2
Q8N720	79027	<ul><li>E->D at 52: in dbSNP rsrs17853754</ul>									rs17853754	2
Q8N726	1029	<ul><li>P->S at 58: in dbSNP:rs3731190<li>G->R at 147: in dbSNP:rs4987127<li>P->L at 154: in dbSNP:rs34886500<li>G->D at 157: in dbSNP:rs35741010</ul>									<li>rs3731190</li><li>rs34886500</li><li>rs35741010</li><li>rs4987127</li>	2
Q8N729	283869	<ul><li>D->A at 149: in dbSNP:rs2286472</ul>									rs2286472	2
Q8N743	115653	<ul><li>I->V at 168: in dbSNP rsrs270790</ul>									rs270790	2
Q8N752	122011	<ul><li>S->G at 5: in dbSNP:rs56224973<li>R->Q at 21: in a colorectal cancer sample; somatic mutation; dbSNP:rs56158728<li>R->W at 21: in dbSNP rsrs56158728<li>D->E at 42: in dbSNP:rs9576175<li>R->S at 170: in dbSNP:rs17773251<li>E->K at 177: in dbSNP:rs17054882<li>P->L at 220: in dbSNP:rs56252856<li>K->N at 230: in dbSNP:rs56252523<li>A->T at 257: in dbSNP:rs55895045</ul>									<li>rs56252523</li><li>rs17773251</li><li>rs56158728</li><li>rs17054882</li><li>rs9576175</li><li>rs56224973</li><li>rs56252856</li><li>rs55895045</li>	2
Q8N766	23065	<ul><li>L->S at 295: in dbSNP:rs3850531<li>S->T at 345: in dbSNP:rs709683<li>S->N at 347: in dbSNP:rs709682</ul>									<li>rs709682</li><li>rs709683</li><li>rs3850531</li>	2
Q8N769	100132603	<ul><li>H->Y at 26: in dbSNP:rs8015313</ul>									rs8015313	2
Q8N7B1	150280	<ul><li>A->T at 2: in dbSNP:rs34150968<li>V->L at 20: in dbSNP:rs34305723</ul>									<li>rs34305723</li><li>rs34150968</li>	2
Q8N7B9	146779	<ul><li>G->R at 341: in dbSNP:rs12602985<li>M->I at 364: in dbSNP:rs1056642<li>S->A at 370: in dbSNP:rs1056643</ul>									<li>rs12602985</li><li>rs1056642</li><li>rs1056643</li>	2
Q8N7C0	440699	<ul><li>D->E at 209: in dbSNP:rs17407838</ul>									rs17407838	2
Q8N7C7	378925	<ul><li>F->L at 221: in dbSNP:rs7790381</ul>									rs7790381	2
Q8N7E2	158506	<ul><li>D->E at 166: in dbSNP:rs5951426<li>S->F at 287: in dbSNP:rs12860105</ul>									<li>rs12860105</li><li>rs5951426</li>	2
Q8N7J2	219287	<ul><li>A->T at 457: in a colorectal cancer sample; somatic mutation<li>I->M at 659: in dbSNP:rs2282406</ul>									rs2282406	2
Q8N7K9	100113377	<ul><li>I->T at 20: in dbSNP:rs2108389<li>E->G at 201: in dbSNP:rs16991953<li>S->P at 214: in dbSNP:rs8105780<li>I->L at 442: in dbSNP:rs10411250</ul>									<li>rs8105780</li><li>rs10411250</li><li>rs16991953</li><li>rs2108389</li>	2
Q8N7L0	144809	<ul><li>R->C at 134: in dbSNP:rs35889214</ul>									rs35889214	2
Q8N7M0	200132	<ul><li>E->D at 49: in dbSNP:rs1060575</ul>									rs1060575	2
Q8N7Q3	163223	<ul><li>G->E at 27: in dbSNP:rs8104929<li>E->K at 96: in dbSNP:rs12986319<li>S->W at 292: in dbSNP:rs11671538</ul>									<li>rs12986319</li><li>rs11671538</li><li>rs8104929</li>	2
Q8N7R1	285877	<ul><li>P->T at 32: in dbSNP:rs10229800<li>E->Q at 75: in dbSNP:rs11238247<li>G->E at 199: in dbSNP:rs1689291</ul>									<li>rs1689291</li><li>rs11238247</li><li>rs10229800</li>	2
Q8N7S2	285126	<ul><li>V->G at 4: in dbSNP:rs17005979<li>H->R at 51: in dbSNP:rs13414011</ul>									<li>rs13414011</li><li>rs17005979</li>	2
Q8N7U6	151651	<ul><li>I->V at 329: in dbSNP:rs2931403<li>T->I at 380: in dbSNP:rs2929366<li>Q->P at 661: in dbSNP:rs9868950</ul>									<li>rs2929366</li><li>rs2931403</li><li>rs9868950</li>	2
Q8N7W2	222389	<ul><li>R->T at 313: in a breast cancer sample; somatic mutation</ul>										2
Q8N7X0	79747	<ul><li>I->T at 310: in dbSNP:rs9497606</ul>									rs9497606	2
Q8N7X2	441476	<ul><li>S->G at 126: in dbSNP:rs28657439</ul>									rs28657439	2
Q8N7Z5		<ul><li>D->N at 702: in dbSNP:rs1422698<li>R->G at 758: in dbSNP:rs6893216<li>D->E at 1609: in dbSNP:rs961098<li>R->K at 1777: in dbSNP:rs4489037</ul>									<li>rs6893216</li><li>rs4489037</li><li>rs961098</li><li>rs1422698</li>	2
Q8N801	285051	<ul><li>L->M at 17: in dbSNP:rs815804<li>Q->R at 31: in dbSNP:rs17036300</ul>									<li>rs815804</li><li>rs17036300</li>	2
Q8N807	204474	<ul><li>A->T at 26: in dbSNP:rs9926580<li>E->Q at 106: in a colorectal cancer sample; somatic mutation<li>D->N at 446: in dbSNP:rs11648131<li>V->I at 447: in dbSNP:rs11865916<li>L->R at 475: in dbSNP:rs4500734<li>R->K at 527: in dbSNP:rs9652589<li>G->E at 529: in dbSNP:rs9652588</ul>									<li>rs9652588</li><li>rs9926580</li><li>rs9652589</li><li>rs4500734</li><li>rs11865916</li><li>rs11648131</li>	2
Q8N812	400073	<ul><li>A->T at 26: in a colorectal cancer sample; somatic mutation</ul>										2
Q8N815	124817	<ul><li>T->P at 145: in dbSNP:rs12947820</ul>									rs12947820	2
Q8N816	147184	<ul><li>I->M at 4: in dbSNP:rs17474506<li>Y->H at 79: in dbSNP:rs10558<li>L->R at 95: in dbSNP:rs1044806</ul>									<li>rs17474506</li><li>rs1044806</li><li>rs10558</li>	2
Q8N823	81856	<ul><li>I->L at 252: in dbSNP:rs4085565<li>E->G at 340: in dbSNP:rs4087790</ul>									<li>rs4087790</li><li>rs4085565</li>	2
Q8N824		<ul><li>E->D at 220: in dbSNP:rs2879938</ul>									rs2879938	2
Q8N831	388951	<ul><li>A->V at 60: in dbSNP:rs6743719<li>G->S at 109: in dbSNP:rs843704<li>P->L at 116: in dbSNP:rs13424808<li>R->C at 246: in dbSNP:rs17189743</ul>									<li>rs13424808</li><li>rs6743719</li><li>rs843704</li><li>rs17189743</li>	2
Q8N841	284076	<ul><li>E->D at 664: in dbSNP:rs2032844</ul>									rs2032844	2
Q8N865	136895	<ul><li>Y->C at 82: in dbSNP:rs2717858<li>T->A at 158: in dbSNP:rs12535348<li>S->T at 187: in dbSNP:rs2523072<li>H->R at 300: in dbSNP:rs2285738</ul>									<li>rs2717858</li><li>rs2523072</li><li>rs12535348</li><li>rs2285738</li>	2
Q8N878	79981	<ul><li>R->C at 274: in dbSNP:rs902393<li>Q->E at 456: in dbSNP:rs1548349</ul>									<li>rs1548349</li><li>rs902393</li>	2
Q8N883	80110	<ul><li>T->I at 68: in dbSNP:rs9636139<li>H->R at 223: in dbSNP:rs35098634<li>V->I at 415: in dbSNP:rs8104890</ul>									<li>rs35098634</li><li>rs9636139</li><li>rs8104890</li>	2
Q8N884	115004	<ul><li>T->N at 35: in dbSNP:rs9352000<li>P->H at 261: in dbSNP:rs610913</ul>									<li>rs610913</li><li>rs9352000</li>	2
Q8N895	167465	<ul><li>A->G at 739: in dbSNP:rs13188519</ul>									rs13188519	2
Q8N8A8		<ul><li>P->S at 115: in dbSNP:rs12101356</ul>									rs12101356	2
Q8N8B7		<ul><li>S->L at 163: in dbSNP:rs2361159</ul>									rs2361159	2
Q8N8D7	286183	<ul><li>V->I at 140: in dbSNP:rs4739003</ul>									rs4739003	2
Q8N8E3	201134	<ul><li>K->E at 551: in dbSNP:rs17704679</ul>									rs17704679	2
Q8N8F6	285525	<ul><li>A->T at 54: in dbSNP:rs2348353</ul>									rs2348353	2
Q8N8G6	400360	<ul><li>T->M at 59: in dbSNP:rs11853050<li>E->K at 77: in dbSNP:rs16968547</ul>									<li>rs16968547</li><li>rs11853050</li>	2
Q8N8I6	284185	<ul><li>V->L at 50: in dbSNP:rs2056439<li>R->C at 119: in dbSNP:rs2048058</ul>									<li>rs2048058</li><li>rs2056439</li>	2
Q8N8I7		<ul><li>G->S at 128: in dbSNP:rs11995303</ul>									rs11995303	2
Q8N8J6	284370	<ul><li>T->M at 129: in dbSNP:rs10500311<li>T->I at 360: in dbSNP:rs1978717<li>R->K at 727: in dbSNP:rs16983353</ul>									<li>rs16983353</li><li>rs1978717</li><li>rs10500311</li>	2
Q8N8J7	132720	<ul><li>P->Q at 46: in dbSNP:rs17852081</ul>									rs17852081	2
Q8N8M0	375607	<ul><li>S->F at 63: in dbSNP:rs34985488</ul>									rs34985488	2
Q8N8Q3	284131	<ul><li>V->I at 29: in dbSNP:rs35549084<li>R->Q at 112: in dbSNP:rs34933300<li>K->R at 114: in dbSNP rsrs41298706<li>H->Y at 141: in dbSNP rsrs41299812<li>D->N at 201: in dbSNP:rs35929621</ul>									<li>rs41298706</li><li>rs35929621</li><li>rs34933300</li><li>rs35549084</li><li>rs41299812</li>	2
Q8N8R7	120534	<ul><li>T->P at 180: in dbSNP:rs7940297</ul>									rs7940297	2
Q8N8U3	203430	<ul><li>P->S at 117: in dbSNP:rs4077512</ul>									rs4077512	2
Q8N8U9	168667	<ul><li>R->W at 555: in dbSNP:rs10249320</ul>									rs10249320	2
Q8N8V2	388646	<ul><li>I->T at 14: in dbSNP:rs676913<li>G->R at 618: in dbSNP:rs1886297</ul>									<li>rs676913</li><li>rs1886297</li>	2
Q8N8V8	284186	<ul><li>R->W at 122: in dbSNP:rs9916085</ul>									rs9916085	2
Q8N8W4	285848	<ul><li>H->P at 423: in dbSNP:rs12199580<li>T->M at 490: in dbSNP:rs12197079<li>S->P at 522: in dbSNP:rs4713956</ul>									<li>rs4713956</li><li>rs12197079</li><li>rs12199580</li>	2
Q8N8W7	378832	<ul><li>A->T at 13: in dbSNP:rs8131523<li>A->V at 97: in dbSNP:rs2838920</ul>									<li>rs2838920</li><li>rs8131523</li>	2
Q8N8Y2	245972	<ul><li>G->R at 272: in dbSNP:rs10094744<li>E->K at 295: in dbSNP:rs4263741</ul>									<li>rs4263741</li><li>rs10094744</li>	2
Q8N944	205147	<ul><li>P->S at 340: in dbSNP:rs1905235</ul>									rs1905235	2
Q8N945	153768	<ul><li>N->S at 99: in dbSNP:rs9324996</ul>									rs9324996	2
Q8N960	153241	<ul><li>L->V at 602: in dbSNP:rs6595440<li>Q->H at 879: in dbSNP:rs1047437<li>V->I at 936: in dbSNP:rs2303721<li>R->H at 947: in dbSNP:rs2303720</ul>									<li>rs6595440</li><li>rs1047437</li><li>rs2303720</li><li>rs2303721</li>	2
Q8N961	25841	<ul><li>H->Q at 64: in dbSNP:rs1925368<li>T->A at 732: in dbSNP:rs2473928</ul>									<li>rs2473928</li><li>rs1925368</li>	2
Q8N999	91298	<ul><li>P->L at 23: in dbSNP:rs11541954<li>V->L at 238: in dbSNP:rs9262</ul>									<li>rs9262</li><li>rs11541954</li>	2
Q8N9B4	338699	<ul><li>N->D at 198: in dbSNP:rs17515016</ul>									rs17515016	2
Q8N9B5	133746	<ul><li>M->L at 364: in dbSNP:rs13182512<li>A->V at 592: in dbSNP:rs12109475<li>H->R at 720: in dbSNP:rs16876657</ul>									<li>rs12109475</li><li>rs13182512</li><li>rs16876657</li>	2
Q8N9C0	283284	<ul><li>A->P at 94: in dbSNP:rs10832975<li>L->R at 130: in dbSNP:rs3740710<li>V->I at 414: in dbSNP:rs10766494<li>R->Q at 472: in dbSNP:rs4424652<li>S->I at 503: in dbSNP:rs3887899<li>M->V at 559: in dbSNP:rs7125943<li>L->F at 677: in dbSNP:rs11024769</ul>									<li>rs10832975</li><li>rs7125943</li><li>rs11024769</li><li>rs3887899</li><li>rs4424652</li><li>rs3740710</li><li>rs10766494</li>	2
Q8N9E0	286499	<ul><li>E->K at 67: in dbSNP:rs34123774</ul>									rs34123774	2
Q8N9F8	285676	<ul><li>D->A at 166: in dbSNP:rs12719860</ul>									rs12719860	2
Q8N9H6	286122	<ul><li>L->P at 39: in dbSNP:rs11136300</ul>									rs11136300	2
Q8N9H8	54932	<ul><li>Q->R at 220: in dbSNP:rs7389423</ul>									rs7389423	2
Q8N9H9	148345	<ul><li>A->V at 530: in dbSNP:rs1281018</ul>									rs1281018	2
Q8N9K5	147929	<ul><li>I->T at 188: in dbSNP:rs4805162</ul>									rs4805162	2
Q8N9K7		<ul><li>Q->H at 18: in dbSNP:rs2272624<li>S->T at 111: in dbSNP:rs17179534</ul>									<li>rs2272624</li><li>rs17179534</li>	2
Q8N9L9	122970	<ul><li>R->C at 57: in dbSNP:rs3742819<li>A->D at 187: in dbSNP:rs35724886</ul>									<li>rs3742819</li><li>rs35724886</li>	2
Q8N9M5	284114	<ul><li>A->V at 110: in dbSNP:rs3809718</ul>									rs3809718	2
Q8N9N8	84285	<ul><li>D->N at 23: in dbSNP:rs17849919<li>S->N at 159: in dbSNP:rs2276017</ul>									<li>rs17849919</li><li>rs2276017</li>	2
Q8N9P6	158055	<ul><li>L->P at 5: in dbSNP:rs34376913</ul>									rs34376913	2
Q8N9R6	284040	<ul><li>V->I at 73: in dbSNP:rs3744332<li>H->Q at 122: in dbSNP:rs2954759</ul>									<li>rs2954759</li><li>rs3744332</li>	2
Q8N9R8	286205	<ul><li>T->A at 37: in dbSNP:rs589292</ul>									rs589292	2
Q8N9S9	169166	<ul><li>D->H at 73: in dbSNP:rs2187016<li>Q->R at 309: in dbSNP:rs2248609<li>D->G at 428: in dbSNP:rs2022923</ul>									<li>rs2022923</li><li>rs2248609</li><li>rs2187016</li>	2
Q8N9T8	65095	<ul><li>T->A at 5: in dbSNP:rs3218222<li>G->R at 144: in dbSNP:rs12984043<li>E->A at 185: in dbSNP:rs11545166<li>E->K at 272: in dbSNP:rs3745249<li>S->L at 315: in dbSNP:rs34743532<li>R->W at 342: in dbSNP:rs33999611<li>E->Q at 355: in dbSNP:rs3826709<li>L->P at 451: in dbSNP:rs1982074<li>S->P at 709: in dbSNP:rs3087689</ul>									<li>rs12984043</li><li>rs3745249</li><li>rs11545166</li><li>rs1982074</li><li>rs34743532</li><li>rs3826709</li><li>rs33999611</li><li>rs3218222</li><li>rs3087689</li>	2
Q8N9U0	123036	<ul><li>T->K at 151: in dbSNP:rs2402073<li>S->N at 172: in dbSNP:rs8020529</ul>									<li>rs2402073</li><li>rs8020529</li>	2
Q8N9V2	339976	<ul><li>D->H at 21: in a breast cancer sample; somatic mutation<li>E->K at 132: in dbSNP:rs13131525</ul>									rs13131525	2
Q8N9V3	151525	<ul><li>K->T at 215: in dbSNP:rs16843852<li>H->D at 223: in dbSNP:rs17852677<li>R->S at 320: in dbSNP:rs7591849</ul>									<li>rs7591849</li><li>rs16843852</li><li>rs17852677</li>	2
Q8N9V6	79998	<ul><li>L->I at 153: in dbSNP:rs17853403<li>M->T at 243: in dbSNP:rs36123544</ul>									<li>rs36123544</li><li>rs17853403</li>	2
Q8N9V7	375337	<ul><li>R->C at 43: in dbSNP:rs9833423<li>Q->P at 88: in dbSNP:rs7645375<li>V->I at 196: in dbSNP:rs9284879<li>Q->R at 483: in dbSNP:rs17076541<li>P->A at 673: in dbSNP:rs17646517<li>K->E at 796: in dbSNP:rs17076545<li>Q->R at 1352: in dbSNP:rs11921568</ul>									<li>rs17076545</li><li>rs17646517</li><li>rs9833423</li><li>rs17076541</li><li>rs7645375</li><li>rs11921568</li><li>rs9284879</li>	2
Q8N9W4		<ul><li>R->G at 43: in dbSNP:rs2344900<li>N->H at 54: in dbSNP:rs3866720<li>E->G at 64: in dbSNP:rs2344899<li>W->R at 191: in dbSNP:rs4778531<li>R->P at 235: in dbSNP:rs12594944</ul>									<li>rs4778531</li><li>rs3866720</li><li>rs12594944</li><li>rs2344899</li><li>rs2344900</li>	2
Q8N9Y4	90050	<ul><li>A->T at 28: in dbSNP:rs10141024</ul>									rs10141024	2
Q8N9Z0	162963	<ul><li>V->M at 104: in dbSNP:rs3815905<li>A->S at 131: in dbSNP:rs2241586<li>R->P at 216: in dbSNP:rs321937<li>R->I at 298: in dbSNP:rs7343101</ul>									<li>rs2241586</li><li>rs3815905</li><li>rs7343101</li><li>rs321937</li>	2
Q8N9Z9	160492	<ul><li>A->T at 264: in dbSNP:rs35450203<li>E->G at 267: in dbSNP:rs34326830<li>T->A at 289: in dbSNP:rs34732786<li>A->T at 290: in dbSNP:rs34074522<li>S->T at 366: in dbSNP:rs1479500</ul>									<li>rs34074522</li><li>rs34732786</li><li>rs35450203</li><li>rs1479500</li><li>rs34326830</li>	2
Q8NA03	161835	<ul><li>N->D at 64: in dbSNP:rs1166719<li>R->H at 354: in dbSNP:rs937961<li>E->G at 374: in dbSNP:rs16969673<li>C->R at 402: in dbSNP:rs10152640<li>L->F at 411: in dbSNP:rs12908846<li>G->A at 528: in dbSNP:rs16969386</ul>									<li>rs12908846</li><li>rs16969386</li><li>rs10152640</li><li>rs16969673</li><li>rs937961</li><li>rs1166719</li>	2
Q8NA23	114987	<ul><li>P->S at 113: in dbSNP:rs10817479</ul>									rs10817479	2
Q8NA47	160762	<ul><li>L->S at 212: in dbSNP:rs12371434</ul>									rs12371434	2
Q8NA54	154865	<ul><li>V->M at 126: in dbSNP:rs10255061<li>D->N at 691: in dbSNP:rs17146009<li>R->H at 735: in a colorectal cancer sample; somatic mutation<li>R->P at 735: in dbSNP:rs1525626</ul>									<li>rs1525626</li><li>rs17146009</li><li>rs10255061</li>	2
Q8NA56	83894	<ul><li>L->P at 94: in dbSNP:rs35123039<li>H->Y at 140: in dbSNP:rs17610219<li>A->T at 276: in dbSNP:rs10013280</ul>									<li>rs17610219</li><li>rs35123039</li><li>rs10013280</li>	2
Q8NA57	160419	<ul><li>Q->R at 306: in dbSNP:rs10777084<li>R->H at 322: in dbSNP:rs11104703</ul>									<li>rs10777084</li><li>rs11104703</li>	2
Q8NA61	220082	<ul><li>K->E at 329: in dbSNP:rs7317245</ul>									rs7317245	2
Q8NA66	168975	<ul><li>D->N at 64: in dbSNP:rs10504829<li>Q->K at 69: in dbSNP:rs16894901</ul>									<li>rs16894901</li><li>rs10504829</li>	2
Q8NA69	374877	<ul><li>D->G at 256: in dbSNP:rs484870<li>Y->N at 396: in dbSNP:rs3826736<li>Y->N at 434: in dbSNP:rs475923<li>P->S at 497: in dbSNP:rs1133378<li>L->P at 500: in dbSNP:rs608144</ul>									<li>rs608144</li><li>rs1133378</li><li>rs475923</li><li>rs3826736</li><li>rs484870</li>	2
Q8NA72	134359	<ul><li>H->R at 36: in dbSNP:rs2307111<li>I->T at 85: in dbSNP:rs17672542<li>A->T at 446: in dbSNP:rs34678567</ul>									<li>rs17672542</li><li>rs34678567</li><li>rs2307111</li>	2
Q8NA82	162333	<ul><li>G->E at 241: in dbSNP:rs17853369<li>S->F at 319: in dbSNP:rs9891498<li>E->K at 742: in dbSNP:rs16946335</ul>									<li>rs9891498</li><li>rs17853369</li><li>rs16946335</li>	2
Q8NA92	199745	<ul><li>R->H at 70: in dbSNP:rs3810449<li>K->R at 112: in dbSNP:rs3810450<li>P->S at 157: in dbSNP:rs34250145<li>R->Q at 185: in dbSNP:rs10421966<li>R->W at 189: in dbSNP:rs10420353</ul>									<li>rs3810450</li><li>rs34250145</li><li>rs3810449</li><li>rs10421966</li><li>rs10420353</li>	2
Q8NAA4	89849	<ul><li>R->W at 220: in dbSNP:rs11235604</ul>									rs11235604	2
Q8NAA6	400359	<ul><li>L->V at 3: in dbSNP:rs7165988<li>A->V at 39: in dbSNP:rs11857596</ul>									<li>rs7165988</li><li>rs11857596</li>	2
Q8NAC3	84818	<ul><li>S->L at 182: in dbSNP:rs708567</ul>									rs708567	2
Q8NAE3		<ul><li>F->V at 96: in dbSNP:rs4551616</ul>									rs4551616	2
Q8NAG6		<ul><li>L->Q at 80: in dbSNP:rs8108174<li>L->W at 170: in dbSNP:rs2363956<li>P->T at 297: in dbSNP:rs891017<li>R->Q at 395: in dbSNP:rs11086065<li>V->M at 407: in dbSNP:rs34112069</ul>									<li>rs8108174</li><li>rs34112069</li><li>rs11086065</li><li>rs891017</li><li>rs2363956</li>	2
Q8NAM6	201516	<ul><li>E->K at 387: in dbSNP:rs11668570</ul>									rs11668570	2
Q8NAP3	253461	<ul><li>S->A at 319: in dbSNP:rs16851435<li>T->M at 615: in dbSNP:rs17787670<li>A->T at 809: in dbSNP:rs3732867</ul>									<li>rs17787670</li><li>rs16851435</li><li>rs3732867</li>	2
Q8NAP8		<ul><li>E->K at 181: in a colorectal cancer sample; somatic mutation</ul>										2
Q8NAT2	163589	<ul><li>M->T at 104: in dbSNP:rs12066948<li>F->V at 239: in dbSNP:rs12069976<li>K->E at 358: in dbSNP:rs6704505<li>E->K at 722: in dbSNP:rs35448215</ul>									<li>rs35448215</li><li>rs12066948</li><li>rs12069976</li><li>rs6704505</li>	2
Q8NAT9		<ul><li>M->R at 32: in dbSNP:rs1017522</ul>									rs1017522	2
Q8NAX2	126695	<ul><li>Q->R at 100: in dbSNP:rs17360994<li>R->W at 107: in dbSNP:rs3010109<li>K->R at 189: in dbSNP:rs34291506<li>R->H at 312: in a colorectal cancer sample; somatic mutation</ul>									<li>rs34291506</li><li>rs3010109</li><li>rs17360994</li>	2
Q8NB12	150572	<ul><li>Q->P at 164: in dbSNP:rs1542087</ul>									rs1542087	2
Q8NB16	197259	<ul><li>S->T at 52: in dbSNP rsrs34251827<li>D->E at 100: in dbSNP:rs33987771<li>S->P at 132: in dbSNP rsrs35589326<li>R->Q at 146: in dbSNP:rs34515646<li>M->L at 169: in dbSNP rsrs55929310<li>L->P at 291: in a gastric adenocarcinoma sample; somatic mutation<li>T->M at 364: in dbSNP:rs34389205<li>F->I at 398: in a gastric adenocarcinoma sample; somatic mutation<li>R->H at 421: in dbSNP rsrs55987292</ul>									<li>rs33987771</li><li>rs35589326</li><li>rs34515646</li><li>rs34389205</li><li>rs55929310</li><li>rs55987292</li><li>rs34251827</li>	2
Q8NB25	79632	<ul><li>Q->H at 174: in dbSNP:rs34681930<li>V->G at 177: in dbSNP:rs34977570<li>D->N at 599: in dbSNP:rs17827619</ul>									<li>rs17827619</li><li>rs34977570</li><li>rs34681930</li>	2
Q8NB49	286410	<ul><li>C->W at 114: in dbSNP:rs2491014<li>T->I at 157: in a colorectal cancer sample; somatic mutation<li>Q->P at 931: in a colorectal cancer sample; somatic mutation</ul>									rs2491014	2
Q8NB66	440279	<ul><li>S->L at 942: in dbSNP:rs17731958</ul>									rs17731958	2
Q8NB90	166378	<ul><li>S->C at 27: in dbSNP:rs35430470<li>S->Y at 673: in dbSNP:rs35133326</ul>									<li>rs35133326</li><li>rs35430470</li>	2
Q8NBB2	283687	<ul><li>V->A at 62: in dbSNP:rs2733102</ul>									rs2733102	2
Q8NBB6		<ul><li>V->M at 28: in dbSNP:rs311888</ul>									rs311888	2
Q8NBF1	148979	<ul><li>T->A at 110: in dbSNP:rs4307514<li>F->L at 157: in dbSNP:rs34961060<li>A->G at 187: in dbSNP:rs35227000</ul>									<li>rs34961060</li><li>rs35227000</li><li>rs4307514</li>	2
Q8NBF2	374354	<ul><li>V->I at 314: in dbSNP:rs7913176</ul>									rs7913176	2
Q8NBF6	23080	<ul><li>C->S at 257: in dbSNP:rs2290213</ul>									rs2290213	2
Q8NBI3	374946	<ul><li>L->F at 37: in dbSNP:rs11121804</ul>									rs11121804	2
Q8NBI5	29015	<ul><li>P->L at 53: in dbSNP:rs34799622</ul>									rs34799622	2
Q8NBJ4	51280	<ul><li>H->R at 217: in dbSNP:rs2297002</ul>									rs2297002	2
Q8NBJ7	25870	<ul><li>E->D at 51: in dbSNP:rs4245575</ul>									rs4245575	2
Q8NBJ9	51092	<ul><li>T->M at 631: in dbSNP:rs12285035<li>V->I at 636: in dbSNP:rs17120425</ul>									<li>rs17120425</li><li>rs12285035</li>	2
Q8NBK3	285362	<ul><li>L->F at 20: in MSD; loss of activity, MIM: 272200<li>S->N at 63: in dbSNP:rs2819590, MIM: 272200<li>S->P at 155: in MSD; loss of activity, MIM: 272200<li>A->P at 177: in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type, MIM: 272200<li>W->S at 179: in MSD; decreases its specific enzyme activity to less than 3%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type, MIM: 272200<li>C->Y at 218: in MSD; loss of activity, MIM: 272200<li>R->W at 224: in MSD; loss of activity, MIM: 272200<li>N->I at 259: in MSD; loss of activity, MIM: 272200<li>P->L at 266: in MSD; retains some activity, MIM: 272200<li>A->V at 279: in MSD; loss of activity; decreases its specific enzyme activity to about 23%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is decreased, MIM: 272200<li>C->R at 336: in MSD; loss of activity, MIM: 272200<li>R->C at 345: in MSD; retains some activity, MIM: 272200<li>A->P at 348: in MSD; loss of activity, MIM: 272200<li>R->Q at 349: in MSD; loss of activity, MIM: 272200<li>R->W at 349: in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is severely decreased, MIM: 272200</ul>	localization	GO:0051179			endoplasmic reticulum	GO:0005783		Multiple sulfatase deficiency (MSD) [MIM:272200]	rs2819590	2
Q8NBL1	56983	<ul><li>K->R at 75: in dbSNP:rs11556605<li>P->T at 229: in dbSNP:rs17852785</ul>									<li>rs17852785</li><li>rs11556605</li>	2
Q8NBL3	130733	<ul><li>L->V at 107: in dbSNP:rs17852679</ul>									rs17852679	2
Q8NBM8	78991	<ul><li>P->A at 5: in dbSNP:rs2291814<li>A->T at 316: in dbSNP:rs35552800<li>E->D at 390: in dbSNP:rs4705336</ul>									<li>rs4705336</li><li>rs35552800</li><li>rs2291814</li>	2
Q8NBP5	84804	<ul><li>G->A at 59: in a breast cancer sample; somatic mutation<li>V->A at 84: in a breast cancer sample; somatic mutation<li>A->S at 129: in dbSNP:rs7601509<li>I->T at 288: in dbSNP:rs33993717</ul>									<li>rs33993717</li><li>rs7601509</li>	2
Q8NBP7	255738	<ul><li>L->LL at 23<li>R->L at 46: polymorphism associated with lower plasma levels of low-density lipoprotein cholesterol; dbSNP:rs28362263: in dbSNP rsrs11591147<li>A->V at 53: in dbSNP:rs11583680<li>E->K at 57<li>S->R at 127: in FH3: in dbSNP rsrs28942111, MIM: 603776<li>F->L at 216: in FH3: in dbSNP rsrs28942112, MIM: 603776<li>R->W at 237, MIM: 603776<li>L->F at 253: polymorphism associated with lower plasma levels of low-density lipoprotein cholesterol; dbSNP:rs28362270, MIM: 603776<li>H->N at 391, MIM: 603776<li>H->Q at 417, MIM: 603776<li>N->S at 425: in dbSNP:rs28362261, MIM: 603776<li>A->T at 443: polymorphism associated with lower plasma levels of low-density lipoprotein cholesterol: in dbSNP rsrs28362263, MIM: 603776<li>R->W at 469, MIM: 603776<li>I->V at 474: in dbSNP:rs562556, MIM: 603776<li>E->G at 482, MIM: 603776<li>F->L at 515, MIM: 603776<li>H->R at 553: polymorphism associated with higher plasma levels of low-density lipoprotein cholesterol: in dbSNP rsrs28362270, MIM: 603776<li>Q->E at 554, MIM: 603776<li>Q->P at 619: in dbSNP:rs28362277, MIM: 603776<li>E->G at 670: in dbSNP:rs505151, MIM: 603776</ul>							<li>Q9S818</li><li>P80571</li>	Familial hypercholesterolemia 3 (FH3) [MIM:603776]	<li>rs28362270</li><li>rs28942112</li><li>rs11591147</li><li>rs562556</li><li>rs28942111</li><li>rs28362277</li><li>rs28362263</li><li>rs28362261</li><li>rs11583680</li><li>rs505151</li>	2
Q8NBQ7	282679	<ul><li>G->S at 102: in dbSNP:rs2276415</ul>									rs2276415	2
Q8NBR9		<ul><li>P->T at 22: in dbSNP:rs12421329</ul>									rs12421329	2
Q8NBS3	83959	<ul><li>N->T at 72<li>M->V at 91<li>N->S at 150: in dbSNP:rs34520315<li>A->T at 160<li>S->P at 213: in CDPD, MIM: 217400<li>A->V at 327, MIM: 217400<li>E->K at 399: in individuals with Fuchs endothelial corneal dystrophy late-onset; affects protein processing and transport to the cell surface, MIM: 217400<li>Q->H at 408, MIM: 217400<li>K->N at 409, MIM: 217400<li>G->D at 464: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700<li>M->T at 483, MIM: 217700<li>R->K at 488: in CDPD, MIM: 217400<li>S->L at 489: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700<li>T->M at 561, MIM: 217700<li>S->L at 565, MIM: 217700<li>T->A at 708, MIM: 217700<li>G->E at 709: in individuals with Fuchs endothelial corneal dystrophy late-onset; affects protein processing and transport to the cell surface, MIM: 217700<li>T->M at 754: in individuals with Fuchs endothelial corneal dystrophy late-onset; affects protein processing and transport to the cell surface, MIM: 217700<li>R->Q at 755: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700<li>R->H at 804: in CHED2, MIM: 217700<li>V->M at 824: in CHED2; deafness not assessed, MIM: 217700<li>T->M at 833: in CHED2, MIM: 217700<li>L->P at 843: in CDPD, MIM: 217400<li>M->I at 848: in dbSNP:rs34224785, MIM: 217400<li>M->V at 856: in CDPD, MIM: 217400<li>R->C at 869: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700<li>R->H at 869: in CHED2, MIM: 217700</ul>	<li>protein processing</li><li>transport</li>	<li>GO:0016485</li><li>GO:0006810</li>			cell surface	GO:0009928,GO:0009986		<li>Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]</li><li>Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]</li>	<li>rs34520315</li><li>rs34224785</li>	2
Q8NBU5	84896	<ul><li>V->I at 107: in a colorectal cancer sample; somatic mutation</ul>										2
Q8NBU9	100129680	<ul><li>L->F at 105: in dbSNP:rs8113645</ul>									rs8113645	2
Q8NBV4	84814	<ul><li>T->M at 174: in dbSNP:rs2966332<li>L->V at 267: in dbSNP:rs11244366</ul>									<li>rs11244366</li><li>rs2966332</li>	2
Q8NBV8	90019	<ul><li>R->C at 120: in dbSNP:rs564271<li>F->I at 129: in dbSNP:rs34141314<li>R->Q at 143: in dbSNP:rs907608<li>T->M at 152: in dbSNP:rs907609</ul>									<li>rs907609</li><li>rs34141314</li><li>rs564271</li><li>rs907608</li>	2
Q8NBW4	153129	<ul><li>T->S at 182: in dbSNP:rs4865615</ul>									rs4865615	2
Q8NBX0	51097	<ul><li>G->R at 418: in dbSNP:rs7779</ul>									rs7779	2
Q8NC01	51267	<ul><li>G->A at 26: in dbSNP:rs2306894</ul>									rs2306894	2
Q8NC24	285613	<ul><li>S->P at 128: in dbSNP:rs17855845<li>L->I at 133: in dbSNP:rs14251<li>G->R at 196: in dbSNP:rs17855844<li>Q->E at 283: in dbSNP:rs11742646</ul>									<li>rs17855844</li><li>rs11742646</li><li>rs17855845</li><li>rs14251</li>	2
Q8NC26	163071	<ul><li>H->N at 99: in dbSNP:rs35802964<li>V->A at 207: in dbSNP:rs16981956</ul>									<li>rs16981956</li><li>rs35802964</li>	2
Q8NC42	284996	<ul><li>E->K at 7: in a breast cancer sample; somatic mutation<li>S->G at 9: in dbSNP:rs11123868<li>L->F at 344: in dbSNP:rs17856945<li>D->E at 356: in dbSNP:rs13151</ul>									<li>rs17856945</li><li>rs13151</li><li>rs11123868</li>	2
Q8NC44	79137	<ul><li>R->H at 374: in dbSNP:rs3210652<li>P->Q at 419: in dbSNP:rs3731900</ul>									<li>rs3210652</li><li>rs3731900</li>	2
Q8NC60	84273	<ul><li>A->S at 153: in dbSNP:rs3733306<li>K->R at 450: in dbSNP:rs11553077<li>Q->R at 579: in a breast cancer sample; somatic mutation</ul>									<li>rs3733306</li><li>rs11553077</li>	2
Q8NC67	81831	<ul><li>S->T at 456: in dbSNP:rs2231983</ul>									rs2231983	2
Q8NC96	25977	<ul><li>D->N at 224: in dbSNP:rs2231752</ul>									rs2231752	2
Q8NCB2	79012	<ul><li>R->W at 40: in a colorectal adenocarcinoma sample; somatic mutation<li>G->S at 60: in an ovarian serous carcinoma sample; somatic mutation<li>R->W at 274: in a colorectal adenocarcinoma sample; somatic mutation<li>E->D at 279: in dbSNP rsrs56071455<li>P->L at 472: in dbSNP rsrs56307047<li>Y->C at 491: in dbSNP:rs17849325</ul>									<li>rs17849325</li><li>rs56307047</li><li>rs56071455</li>	2
Q8NCE0	80746	<ul><li>R->H at 41: in dbSNP:rs12495784<li>R->H at 126: in dbSNP:rs33955793<li>Y->C at 309: in PCH2B, MIM: 612389</ul>								Pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389]	<li>rs12495784</li><li>rs33955793</li>	2
Q8NCE2	64419	<ul><li>R->Q at 336: in a ADCNM patient; drastically reduced enzymatic activity<li>Y->C at 462: in a ADCNM patient; reduced enzymatic activity</ul>										2
Q8NCF5	84901	<ul><li>R->W at 33: in dbSNP:rs7201257</ul>									rs7201257	2
Q8NCG5	10164	<ul><li>H->Q at 361: in dbSNP:rs3813744</ul>									rs3813744	2
Q8NCG7	221955	<ul><li>Q->R at 664: in dbSNP:rs2303361</ul>									rs2303361	2
Q8NCI6	112937	<ul><li>R->P at 121: in dbSNP:rs472287<li>V->M at 431: in dbSNP:rs2509062</ul>									<li>rs472287</li><li>rs2509062</li>	2
Q8NCK7	162515	<ul><li>D->G at 127: in dbSNP:rs13342692</ul>									rs13342692	2
Q8NCL4	11226	<ul><li>V->I at 423: in dbSNP:rs747300</ul>									rs747300	2
Q8NCL8	89894	<ul><li>C->G at 22: in dbSNP:rs3752630</ul>									rs3752630	2
Q8NCL9	164284	<ul><li>C->R at 30: in dbSNP:rs3946003<li>Y->H at 80: in dbSNP:rs7265854<li>R->Q at 83: in dbSNP:rs7265902<li>R->C at 261: in dbSNP:rs16981999</ul>									<li>rs7265854</li><li>rs3946003</li><li>rs16981999</li><li>rs7265902</li>	2
Q8NCM8		<ul><li>T->P at 302: in dbSNP:rs12803695<li>Q->L at 304: in dbSNP:rs12146610<li>H->Y at 341: in dbSNP:rs17301182<li>R->Q at 456: in dbSNP:rs17099969<li>R->K at 789: in dbSNP:rs7358374<li>R->K at 1221: in dbSNP:rs12794914<li>T->A at 1288: in dbSNP:rs17301750<li>K->R at 1413: in dbSNP:rs688906<li>Q->R at 2871: in dbSNP:rs589623<li>A->V at 3680: in dbSNP:rs10895391<li>S->N at 3976: in dbSNP:rs4754914<li>Q->P at 4139: in dbSNP:rs1793493</ul>									<li>rs17301750</li><li>rs17099969</li><li>rs12803695</li><li>rs17301182</li><li>rs688906</li><li>rs12794914</li><li>rs589623</li><li>rs4754914</li><li>rs1793493</li><li>rs7358374</li><li>rs12146610</li><li>rs10895391</li>	2
Q8NCN5	55066	<ul><li>Y->H at 109: in dbSNP:rs2549532</ul>									rs2549532	2
Q8NCP5	29068	<ul><li>K->E at 185: in dbSNP:rs17857365</ul>									rs17857365	2
Q8NCQ5	201456	<ul><li>Y->H at 420: in dbSNP:rs35815390</ul>									rs35815390	2
Q8NCQ7	147011	<ul><li>D->A at 245: in dbSNP:rs1077127<li>E->K at 320: in dbSNP:rs3744637</ul>									<li>rs1077127</li><li>rs3744637</li>	2
Q8NCR0	148789	<ul><li>N->S at 203: in a breast cancer sample; somatic mutation</ul>										2
Q8NCR3	160140	<ul><li>W->L at 183: in dbSNP:rs17857489<li>F->L at 242: in dbSNP:rs17855010</ul>									<li>rs17857489</li><li>rs17855010</li>	2
Q8NCR6	84688	<ul><li>P->Q at 233: in dbSNP:rs17852663</ul>									rs17852663	2
Q8NCR9	119467	<ul><li>F->I at 75: in dbSNP:rs35070529</ul>									rs35070529	2
Q8NCT1		<ul><li>A->T at 79: in dbSNP:rs12101554<li>S->P at 347: in dbSNP:rs17856817<li>P->S at 358: in dbSNP:rs2130882</ul>									<li>rs2130882</li><li>rs12101554</li><li>rs17856817</li>	2
Q8NCU4	57577	<ul><li>R->W at 374: in dbSNP:rs17603649<li>E->D at 696: in dbSNP:rs6784095</ul>									<li>rs17603649</li><li>rs6784095</li>	2
Q8NCV1	161931	<ul><li>G->E at 44: in dbSNP:rs8044695<li>G->R at 307: in dbSNP:rs11149631</ul>									<li>rs8044695</li><li>rs11149631</li>	2
Q8NCW5	128240	<ul><li>V->L at 19: in dbSNP:rs7516274</ul>									rs7516274	2
Q8NCW6	63917	<ul><li>P->S at 151: in dbSNP:rs6464201<li>D->Y at 197: in dbSNP:rs3778922</ul>									<li>rs6464201</li><li>rs3778922</li>	2
Q8NCX0	284992	<ul><li>E->K at 156: in dbSNP:rs34133636</ul>									rs34133636	2
Q8ND04	55181	<ul><li>P->L at 280: in dbSNP:rs8068240</ul>									rs8068240	2
Q8ND07	80127	<ul><li>K->E at 496: in dbSNP:rs3742809</ul>									rs3742809	2
Q8ND23	90668	<ul><li>L->M at 1022: in dbSNP:rs10146906</ul>									rs10146906	2
Q8ND30	8495	<ul><li>G->R at 658: in dbSNP:rs4758209</ul>									rs4758209	2
Q8ND56	26065	<ul><li>R->Q at 448: in dbSNP:rs2274896</ul>									rs2274896	2
Q8ND61	84077	<ul><li>G->D at 42: in dbSNP:rs17040154<li>D->N at 65: in dbSNP:rs9821143<li>A->T at 176: in dbSNP:rs17040196<li>S->Y at 230: in dbSNP:rs17852774<li>A->T at 298: in dbSNP:rs17040196<li>I->V at 407: in dbSNP:rs6765537<li>L->V at 422: in dbSNP:rs6790129</ul>									<li>rs17040154</li><li>rs6765537</li><li>rs17852774</li><li>rs6790129</li><li>rs17040196</li><li>rs9821143</li>	2
Q8ND71	155038	<ul><li>I->T at 301: in dbSNP:rs2293283</ul>									rs2293283	2
Q8ND90	9240	<ul><li>M->V at 54: in dbSNP:rs35129712<li>R->P at 215: in dbSNP:rs34413931</ul>									<li>rs34413931</li><li>rs35129712</li>	2
Q8NDB2	55024	<ul><li>R->H at 61: influences susceptibility to SLE; dbSNP:rs10516487<li>A->T at 383: influences susceptibility to SLE; dbSNP:rs3733197<li>R->C at 650: in dbSNP:rs3113676</ul>									<li>rs3733197</li><li>rs3113676</li><li>rs10516487</li>	2
Q8NDD1	128061	<ul><li>L->V at 28: in dbSNP:rs2274067</ul>									rs2274067	2
Q8NDH2		<ul><li>P->S at 30: in dbSNP:rs11843669<li>M->V at 94: in dbSNP:rs17592459<li>G->S at 264: in dbSNP:rs9518825<li>S->P at 314: in dbSNP:rs9300758<li>L->P at 347: in dbSNP:rs9300757<li>G->A at 382: in dbSNP:rs17507841<li>R->T at 1015: in dbSNP:rs7982465<li>N->S at 1121: in dbSNP:rs7983175<li>R->Q at 1209: in dbSNP:rs17592438<li>F->L at 1287: in dbSNP:rs7335290<li>L->P at 1382: in dbSNP:rs6491707<li>R->C at 1446: in dbSNP:rs9300756<li>T->M at 1483: in dbSNP:rs17507827<li>E->A at 1879: in dbSNP:rs9514051<li>K->E at 1915: in dbSNP:rs9554897</ul>									<li>rs9554897</li><li>rs11843669</li><li>rs7983175</li><li>rs9514051</li><li>rs7982465</li><li>rs7335290</li><li>rs17507841</li><li>rs9300758</li><li>rs9300757</li><li>rs17592459</li><li>rs9300756</li><li>rs17592438</li><li>rs6491707</li><li>rs17507827</li><li>rs9518825</li>	2
Q8NDI1	23301	<ul><li>R->T at 395: in a breast cancer sample; somatic mutation<li>K->Q at 755: in dbSNP:rs17432615</ul>									rs17432615	2
Q8NDL9	60509	<ul><li>G->D at 649: in dbSNP:rs35804461</ul>									rs35804461	2
Q8NDM7	80217	<ul><li>I->T at 394: in dbSNP:rs10883979<li>L->F at 617: in dbSNP:rs35901897<li>V->I at 635: in dbSNP:rs17116635<li>A->S at 836: in dbSNP:rs12262825</ul>									<li>rs10883979</li><li>rs12262825</li><li>rs17116635</li><li>rs35901897</li>	2
Q8NDN9	55213	<ul><li>A->V at 24: in dbSNP:rs4942848<li>T->I at 500</ul>									rs4942848	2
Q8NDP4	90594	<ul><li>P->S at 6: in dbSNP:rs10421552<li>L->S at 427: in dbSNP:rs10500209</ul>									<li>rs10500209</li><li>rs10421552</li>	2
Q8NDQ6	163255	<ul><li>D->V at 53: in dbSNP:rs1975937<li>K->I at 275: in a colorectal cancer sample; somatic mutation</ul>									rs1975937	2
Q8NDV3	27127	<ul><li>F->V at 473: in dbSNP:rs136603<li>L->M at 1050: in dbSNP:rs5764698</ul>									<li>rs5764698</li><li>rs136603</li>	2
Q8NDW4	57209	<ul><li>K->E at 218: in dbSNP:rs11011379</ul>									rs11011379	2
Q8NDW8	199223	<ul><li>R->Q at 91: in dbSNP:rs1112438<li>V->L at 108: in dbSNP:rs17855763<li>R->K at 290: in dbSNP:rs1274972<li>E->K at 293: in dbSNP:rs1274971<li>R->W at 622: in dbSNP:rs35581078<li>R->Q at 719: in dbSNP:rs9861353<li>R->L at 1055: in dbSNP:rs35934336<li>S->R at 1160: in dbSNP:rs34201693<li>K->R at 1316: in dbSNP:rs704959</ul>									<li>rs9861353</li><li>rs704959</li><li>rs35934336</li><li>rs35581078</li><li>rs1274972</li><li>rs1112438</li><li>rs34201693</li><li>rs1274971</li><li>rs17855763</li>	2
Q8NDX1	23550	<ul><li>G->R at 83: in dbSNP:rs1562277<li>S->P at 233: in dbSNP:rs12472091<li>G->A at 269: in dbSNP:rs4849167<li>R->Q at 637: in dbSNP:rs45487591<li>I->V at 658: in dbSNP:rs45574835</ul>									<li>rs45574835</li><li>rs4849167</li><li>rs1562277</li><li>rs12472091</li><li>rs45487591</li>	2
Q8NDX2	246213	<ul><li>T->I at 8: in dbSNP:rs45610843<li>A->V at 211: in DFNA25, MIM: 605583<li>A->T at 220: in dbSNP:rs11568530, MIM: 605583<li>G->E at 246: in dbSNP:rs11568543, MIM: 605583</ul>								Non-syndromic sensorineural deafness autosomal dominant type 25 (DFNA25) [MIM:605583]	<li>rs45610843</li><li>rs11568543</li><li>rs11568530</li>	2
Q8NDX9	58496	<ul><li>D->N at 102: in dbSNP:rs805267<li>S->Y at 131: in dbSNP:rs11758242<li>R->C at 176: in dbSNP:rs9267532</ul>									<li>rs805267</li><li>rs11758242</li><li>rs9267532</li>	2
Q8NDY3	113622	<ul><li>A->V at 7: in dbSNP:rs9577273</ul>									rs9577273	2
Q8NDY8	339456	<ul><li>M->T at 141: in dbSNP:rs28640257<li>M->V at 141: in dbSNP:rs4459050</ul>									<li>rs4459050</li><li>rs28640257</li>	2
Q8NDZ0	139105	<ul><li>F->L at 154: in dbSNP:rs17274127<li>S->F at 188: in dbSNP:rs12859329</ul>									<li>rs12859329</li><li>rs17274127</li>	2
Q8NDZ2	375484	<ul><li>S->F at 221: in dbSNP:rs2001605<li>R->K at 463: in dbSNP:rs17857141<li>R->H at 772: in dbSNP:rs17853733</ul>									<li>rs17857141</li><li>rs2001605</li><li>rs17853733</li>	2
Q8NE00	54868	<ul><li>V->M at 58: in dbSNP:rs2016126<li>A->T at 439: in dbSNP:rs3803784</ul>									<li>rs3803784</li><li>rs2016126</li>	2
Q8NE09	26166	<ul><li>R->M at 397: in dbSNP:rs2446927<li>H->Y at 943: in dbSNP:rs3133711</ul>									<li>rs2446927</li><li>rs3133711</li>	2
Q8NE18		<ul><li>A->S at 308: in dbSNP:rs2437323</ul>									rs2437323	2
Q8NE22	133383	<ul><li>T->S at 76: in dbSNP:rs2257505<li>K->E at 209: in dbSNP:rs40497</ul>									<li>rs40497</li><li>rs2257505</li>	2
Q8NE28	169436	<ul><li>G->D at 139: in a glioblastoma multiforme sample; somatic mutation<li>K->E at 473: in dbSNP:rs3124747<li>R->Q at 568: in dbSNP:rs17150554</ul>									<li>rs3124747</li><li>rs17150554</li>	2
Q8NE31	220965	<ul><li>P->H at 82: in dbSNP:rs17853626</ul>									rs17853626	2
Q8NE35	22849	<ul><li>R->W at 324: in dbSNP:rs17853616</ul>									rs17853616	2
Q8NE62	55349	<ul><li>E->A at 40: in dbSNP:rs9001<li>L->R at 78: in dbSNP:rs12676<li>N->S at 441: in dbSNP:rs34974961</ul>									<li>rs34974961</li><li>rs9001</li><li>rs12676</li>	2
Q8NE63	147746	<ul><li>A->T at 106: in dbSNP rsrs34434715<li>V->M at 171: in dbSNP rsrs55964225<li>R->Q at 302: in dbSNP:rs11670988<li>T->M at 381: in dbSNP rsrs55760165<li>A->T at 386: in dbSNP rsrs56365273<li>S->R at 406: in dbSNP rsrs56094851<li>G->S at 421: in dbSNP rsrs56117722<li>R->C at 481: in dbSNP rsrs55801979</ul>									<li>rs56365273</li><li>rs55760165</li><li>rs56094851</li><li>rs55964225</li><li>rs34434715</li><li>rs11670988</li><li>rs55801979</li><li>rs56117722</li>	2
Q8NE71	23	<ul><li>N->D at 198: in dbSNP:rs6902544</ul>									rs6902544	2
Q8NE79	11149	<ul><li>M->I at 127: in dbSNP:rs9486039<li>R->W at 129: in dbSNP:rs2275289</ul>									<li>rs2275289</li><li>rs9486039</li>	2
Q8NEA4	130888	<ul><li>L->F at 86: in dbSNP:rs1035834</ul>									rs1035834	2
Q8NEA5	147685	<ul><li>H->Y at 208: in dbSNP:rs8110831</ul>									rs8110831	2
Q8NEA6	169792	<ul><li>S->P at 269: in dbSNP:rs806052<li>Q->P at 301: in dbSNP:rs6415788<li>P->L at 578: in dbSNP:rs10973986</ul>									<li>rs10973986</li><li>rs6415788</li><li>rs806052</li>	2
Q8NEA9		<ul><li>V->A at 275: in a colorectal cancer sample; somatic mutation</ul>										2
Q8NEB7	84519	<ul><li>T->A at 336: in dbSNP:rs3741923</ul>									rs3741923	2
Q8NEC5	117144	<ul><li>G->S at 133: in dbSNP:rs1203998<li>I->V at 652: in dbSNP:rs3814747<li>T->P at 730: in dbSNP:rs34958219</ul>									<li>rs3814747</li><li>rs34958219</li><li>rs1203998</li>	2
Q8NEE6	222235	<ul><li>M->I at 74: in dbSNP:rs7805950<li>G->A at 313: in dbSNP:rs17135923<li>I->V at 535: in dbSNP:rs17135873<li>Y->C at 565: in dbSNP:rs17136118<li>D->G at 692: in dbSNP:rs17852944</ul>									<li>rs7805950</li><li>rs17136118</li><li>rs17135923</li><li>rs17852944</li><li>rs17135873</li>	2
Q8NEE8	158248	<ul><li>M->T at 405: in dbSNP:rs17852941<li>E->G at 588: in dbSNP:rs13298768<li>Y->C at 809: in dbSNP:rs4837178<li>A->S at 872: in dbSNP:rs17852943</ul>									<li>rs13298768</li><li>rs4837178</li><li>rs17852943</li><li>rs17852941</li>	2
Q8NEF3	153733	<ul><li>H->L at 32: in dbSNP:rs34457718<li>S->N at 144: in dbSNP:rs34056787<li>K->N at 341: in dbSNP:rs17856922<li>E->G at 354: in dbSNP:rs17852930</ul>									<li>rs34457718</li><li>rs17856922</li><li>rs17852930</li><li>rs34056787</li>	2
Q8NEG0	196472	<ul><li>R->G at 30: in dbSNP:rs11109968<li>M->V at 71: in dbSNP:rs11109969</ul>									<li>rs11109968</li><li>rs11109969</li>	2
Q8NEG4	113828	<ul><li>R->S at 245: in dbSNP:rs12330063<li>G->S at 353: in dbSNP:rs35823589<li>A->V at 418: in a breast cancer sample; somatic mutation<li>R->G at 436: in dbSNP:rs5995794</ul>									<li>rs12330063</li><li>rs35823589</li><li>rs5995794</li>	2
Q8NEH6	55329	<ul><li>C->Y at 10: in dbSNP:rs34807682<li>Q->P at 55: in dbSNP:rs1715919<li>I->T at 216: in dbSNP:rs35775595<li>Y->H at 244: in dbSNP:rs17852882<li>E->G at 426: in dbSNP:rs17853357</ul>									<li>rs35775595</li><li>rs34807682</li><li>rs1715919</li><li>rs17852882</li><li>rs17853357</li>	2
Q8NEJ9	25983	<ul><li>V->L at 15: in dbSNP:rs10149626<li>K->I at 308: in dbSNP:rs17093050</ul>									<li>rs10149626</li><li>rs17093050</li>	2
Q8NEK5	147694	<ul><li>S->A at 58: in dbSNP:rs17856896<li>T->A at 73: in dbSNP:rs4801478</ul>									<li>rs4801478</li><li>rs17856896</li>	2
Q8NEK8	169966	<ul><li>D->E at 185: in dbSNP:rs1113265</ul>									rs1113265	2
Q8NEL0	84692	<ul><li>R->Q at 38: in dbSNP:rs709564</ul>									rs709564	2
Q8NEM0	79648	<ul><li>T->R at 27: in MCPH1; mild phenotype, MIM: 251200<li>S->R at 171: in dbSNP:rs2442513, MIM: 251200<li>A->T at 212: in dbSNP:rs2922828, MIM: 251200<li>I->V at 264: in dbSNP:rs34121009, MIM: 251200<li>P->H at 288: in dbSNP:rs35590577, MIM: 251200<li>R->I at 304: in dbSNP:rs2083914, MIM: 251200<li>H->D at 314: in dbSNP:rs930557, MIM: 251200<li>G->D at 392: in dbSNP:rs2515569, MIM: 251200<li>S->G at 580: in dbSNP:rs17076894, MIM: 251200<li>L->F at 602: in dbSNP:rs34418490, MIM: 251200<li>T->N at 682: in dbSNP:rs12674488, MIM: 251200<li>V->A at 761: may be associated with cranial volume variation in males in a Chinese population; dbSNP:rs1057090, MIM: 251200<li>P->S at 828: in dbSNP:rs1057091, MIM: 251200</ul>							<li>Q5IFK1</li><li>Q8NEM0</li><li>P61594</li><li>P61593</li><li>P61590</li><li>P61592</li><li>P61591</li>	Microcephaly primary type 1 (MCPH1) [MIM:251200]	<li>rs2515569</li><li>rs2442513</li><li>rs2922828</li><li>rs12674488</li><li>rs34418490</li><li>rs35590577</li><li>rs2083914</li><li>rs930557</li><li>rs34121009</li><li>rs1057090</li><li>rs1057091</li><li>rs17076894</li>	2
Q8NEM1	340252	<ul><li>S->F at 132: in dbSNP:rs11768951<li>D->G at 330: in dbSNP:rs17856885<li>N->D at 525: in dbSNP:rs17852813</ul>									<li>rs17852813</li><li>rs11768951</li><li>rs17856885</li>	2
Q8NEM2	79801	<ul><li>T->M at 21: in dbSNP:rs6598679<li>M->R at 60: in dbSNP:rs11545690</ul>									<li>rs6598679</li><li>rs11545690</li>	2
Q8NEM8	340351	<ul><li>F->Y at 45: in dbSNP:rs2348049<li>E->Q at 122: in dbSNP:rs4236655<li>T->I at 360: in dbSNP:rs17804854</ul>									<li>rs17804854</li><li>rs2348049</li><li>rs4236655</li>	2
Q8NEN0	84071	<ul><li>M->T at 166: in dbSNP:rs9386758<li>N->D at 433: in dbSNP:rs17852775</ul>									<li>rs17852775</li><li>rs9386758</li>	2
Q8NEN9	118987	<ul><li>V->A at 806: in dbSNP:rs35664484<li>R->Q at 897: in dbSNP:rs363294</ul>									<li>rs35664484</li><li>rs363294</li>	2
Q8NEP3	123872	<ul><li>D->E at 387: in dbSNP:rs36062234<li>K->R at 393: in dbSNP:rs17856705<li>E->D at 432: in dbSNP:rs9972733<li>P->L at 502: in dbSNP:rs11644164<li>F->C at 545: in dbSNP:rs17856706<li>L->S at 633: in dbSNP:rs2288020<li>L->P at 659: in dbSNP:rs2288022<li>L->V at 659: in dbSNP:rs2288021<li>S->T at 675: in dbSNP:rs2288023<li>G->R at 703: in dbSNP:rs4150188<li>P->A at 712: in dbSNP:rs4150187</ul>									<li>rs4150187</li><li>rs17856706</li><li>rs17856705</li><li>rs2288020</li><li>rs2288022</li><li>rs2288021</li><li>rs2288023</li><li>rs11644164</li><li>rs9972733</li><li>rs36062234</li><li>rs4150188</li>	2
Q8NEP4	284083	<ul><li>T->P at 88: in dbSNP:rs8071623<li>G->S at 461: in dbSNP:rs17822735<li>C->G at 546: in dbSNP:rs16943091</ul>									<li>rs17822735</li><li>rs8071623</li><li>rs16943091</li>	2
Q8NEP7	126823	<ul><li>S->R at 171: in dbSNP:rs11576830<li>A->T at 282: in dbSNP:rs1128750<li>N->S at 288: in dbSNP:rs1128750</ul>									<li>rs1128750</li><li>rs11576830</li>	2
Q8NEP9	148254	<ul><li>N->D at 107: in dbSNP:rs17856649<li>P->L at 137: in dbSNP:rs36012545<li>H->N at 194: in dbSNP:rs17851955<li>K->T at 515: in dbSNP:rs17856648</ul>									<li>rs17856649</li><li>rs17856648</li><li>rs17851955</li><li>rs36012545</li>	2
Q8NEQ5	128346	<ul><li>G->S at 3: in dbSNP:rs6703267</ul>									rs6703267	2
Q8NEQ6	149563	<ul><li>G->W at 52: in a breast cancer sample; somatic mutation<li>G->W at 100: in a breast cancer sample; somatic mutation<li>L->F at 112: in dbSNP:rs34950166</ul>									rs34950166	2
Q8NER1	7442	<ul><li>I->V at 585: in dbSNP rsrs8065080</ul>									rs8065080	2
Q8NER5	130399	<ul><li>I->T at 195: in dbSNP rsrs56188432<li>G->R at 216: in dbSNP rsrs34742924<li>W->R at 267: in a lung squamous cell carcinoma sample; somatic mutation<li>I->V at 355: in dbSNP rsrs35500979<li>I->V at 482: in dbSNP:rs7594480</ul>									<li>rs7594480</li><li>rs34742924</li><li>rs56188432</li><li>rs35500979</li>	2
Q8NES3	3955	<ul><li>G->R at 38<li>F->L at 188: in SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive, MIM: 609813<li>V->M at 346, MIM: 609813</ul>								Spondylocostal dysostosis autosomal recessive type 3 (SCDO3) [MIM:609813]		2
Q8NET1	245911	<ul><li>R->W at 36: in dbSNP:rs12793731</ul>									rs12793731	2
Q8NET4	57529	<ul><li>P->S at 777: in dbSNP:rs35495390</ul>									rs35495390	2
Q8NET5	150372	<ul><li>H->Y at 137: in dbSNP:rs34296033<li>N->K at 187: in dbSNP:rs17003048</ul>									<li>rs34296033</li><li>rs17003048</li>	2
Q8NET6	166012	<ul><li>P->S at 146: in dbSNP:rs34311016<li>A->E at 271: in dbSNP:rs1056523<li>A->G at 271: in dbSNP:rs1056523<li>A->V at 271: in dbSNP:rs1056523<li>R->Q at 317: in dbSNP:rs1056522</ul>									<li>rs34311016</li><li>rs1056523</li><li>rs1056522</li>	2
Q8NET8	162514	<ul><li>I->V at 25: in dbSNP:rs322965<li>R->G at 117: in dbSNP:rs322937<li>T->I at 774: in dbSNP:rs7212634</ul>									<li>rs322937</li><li>rs322965</li><li>rs7212634</li>	2
Q8NEU8	55198	<ul><li>A->V at 433: in dbSNP:rs2272495</ul>									rs2272495	2
Q8NEV4	53904	<ul><li>T->I at 178: in dbSNP:rs33968748<li>D->N at 204: in dbSNP:rs3737274<li>R->H at 319: in dbSNP:rs3824700<li>I->V at 348: in dbSNP:rs3824699<li>V->I at 369: in dbSNP:rs3817420<li>N->K at 525: in an ovarian mucinous carcinoma sample; somatic mutation<li>A->S at 833: in dbSNP:rs33947968<li>S->N at 956: in dbSNP:rs3758449<li>S->R at 956: in an ovarian serous carcinoma sample; somatic mutation<li>A->T at 1032: in dbSNP:rs34918608<li>V->M at 1045: in dbSNP rsrs35447806<li>V->M at 1137: in dbSNP rsrs35449183<li>V->A at 1195: in dbSNP rsrs35675577<li>T->S at 1284: in dbSNP:rs3740231<li>P->T at 1287: in dbSNP:rs35575696<li>R->S at 1313: in dbSNP:rs1999240<li>D->H at 1347: in a renal clear cell carcinoma sample; somatic mutation<li>T->I at 1417: in dbSNP:rs34151474<li>K->E at 1488: in dbSNP rsrs34204285</ul>									<li>rs33947968</li><li>rs3737274</li><li>rs3758449</li><li>rs3824699</li><li>rs34204285</li><li>rs3817420</li><li>rs35675577</li><li>rs3740231</li><li>rs3824700</li><li>rs35447806</li><li>rs33968748</li><li>rs35575696</li><li>rs34151474</li><li>rs34918608</li><li>rs35449183</li><li>rs1999240</li>	2
Q8NEV8	23086	<ul><li>R->G at 19: in dbSNP:rs2640738<li>R->L at 118: in dbSNP:rs3741046<li>E->V at 137: in dbSNP:rs2640785<li>R->Q at 328: in dbSNP:rs11212684<li>M->L at 512: in dbSNP:rs17108127<li>V->F at 525: in dbSNP:rs12146448<li>N->S at 676: in dbSNP:rs2846412<li>D->N at 777: in dbSNP:rs3741048<li>L->P at 853: in dbSNP:rs10749920<li>N->Y at 892: in dbSNP:rs10890850<li>V->A at 899: in dbSNP:rs17108112<li>D->N at 1240: in dbSNP:rs11828459<li>C->R at 1311: in dbSNP:rs877474<li>R->G at 1663: in dbSNP:rs2640779<li>D->N at 1967: in dbSNP:rs1943382</ul>									<li>rs12146448</li><li>rs17108127</li><li>rs11828459</li><li>rs10890850</li><li>rs17108112</li><li>rs877474</li><li>rs11212684</li><li>rs3741046</li><li>rs2640785</li><li>rs3741048</li><li>rs2846412</li><li>rs1943382</li><li>rs2640779</li><li>rs10749920</li><li>rs2640738</li>	2
Q8NEV9	246778	<ul><li>S->A at 59: in dbSNP:rs17855750<li>L->P at 119: in dbSNP:rs181206</ul>									<li>rs181206</li><li>rs17855750</li>	2
Q8NEW7	259236	<ul><li>R->C at 81: in DFNB6: in dbSNP rsrs28942096, MIM: 600971<li>R->W at 84: in DFNB6: in dbSNP rsrs28942097, MIM: 600971<li>R->W at 92: in DFNB6: in dbSNP rsrs28941781, MIM: 600971</ul>								Non-syndromic sensorineural deafness autosomal recessive type 6 (DFNB6) [MIM:600971]	<li>rs28942097</li><li>rs28942096</li><li>rs28941781</li>	2
Q8NEX5	259240	<ul><li>N->T at 27: in dbSNP:rs2245898</ul>									rs2245898	2
Q8NEY1	89796	<ul><li>Q->H at 937: in dbSNP:rs16849342<li>S->L at 1273: in dbSNP:rs2820289<li>H->D at 1290: in dbSNP:rs2292822<li>V->I at 1527: in dbSNP:rs16849379</ul>									<li>rs16849379</li><li>rs2292822</li><li>rs2820289</li><li>rs16849342</li>	2
Q8NEY3	132851	<ul><li>Y->C at 149: in dbSNP:rs17062589</ul>									rs17062589	2
Q8NEY4	245973	<ul><li>N->D at 143: in dbSNP:rs1198849</ul>									rs1198849	2
Q8NEY8	51535	<ul><li>V->M at 173: in a breast cancer sample; somatic mutation</ul>										2
Q8NEZ2	137492	<ul><li>I->F at 206: in dbSNP:rs17502618<li>I->V at 213: in dbSNP:rs17687375</ul>									<li>rs17502618</li><li>rs17687375</li>	2
Q8NEZ3	57728	<ul><li>G->S at 1084: in dbSNP:rs16995209</ul>									rs16995209	2
Q8NEZ4	58508	<ul><li>C->G at 347: in a colorectal cancer sample; somatic mutation<li>D->N at 400: in a colorectal cancer sample; somatic mutation<li>L->W at 478: in a colorectal cancer sample; somatic mutation<li>I->N at 823: in dbSNP:rs2838171<li>I->T at 823: in dbSNP:rs2838171<li>T->S at 3698: in a colorectal cancer sample; somatic mutation</ul>									rs2838171	2
Q8NF50	81704	<ul><li>P->T at 97: in dbSNP:rs529208<li>E->K at 237: in dbSNP:rs11789099<li>N->S at 413: in dbSNP:rs10970979<li>A->V at 597: in dbSNP:rs17673268<li>R->W at 1008: in dbSNP:rs16937932<li>A->P at 1970: in dbSNP:rs34908836</ul>									<li>rs16937932</li><li>rs34908836</li><li>rs17673268</li><li>rs11789099</li><li>rs10970979</li><li>rs529208</li>	2
Q8NF64	83637	<ul><li>L->F at 408: in dbSNP:rs3735478</ul>									rs3735478	2
Q8NF91	23345	<ul><li>V->M at 3671: in a colorectal cancer sample; somatic mutation<li>E->D at 4210: in a colorectal cancer sample; somatic mutation<li>R->H at 4223: in a colorectal cancer sample; somatic mutation<li>L->R at 5507: in a colorectal cancer sample; somatic mutation<li>A->G at 8323: in dbSNP:rs2252755<li>R->H at 8468: in a colorectal cancer sample; somatic mutation</ul>									rs2252755	2
Q8NFA0	84669	<ul><li>H->Y at 76: in dbSNP:rs7208980<li>A->G at 1469: in dbSNP:rs3207630<li>G->R at 1568: in dbSNP:rs16944142<li>T->I at 1578: in dbSNP:rs16944136</ul>									<li>rs7208980</li><li>rs16944142</li><li>rs16944136</li><li>rs3207630</li>	2
Q8NFB2	84548	<ul><li>M->V at 179: in dbSNP:rs396058<li>C->S at 243: in dbSNP:rs609828</ul>									<li>rs609828</li><li>rs396058</li>	2
Q8NFC6	259282	<ul><li>S->I at 246: in a breast cancer sample; somatic mutation<li>T->M at 429: in dbSNP:rs2035820<li>L->I at 650: in dbSNP:rs1971278<li>A->G at 1369: in dbSNP:rs17745712<li>T->A at 1448: in dbSNP:rs17745676<li>T->A at 1515: in dbSNP:rs16888885<li>V->I at 1645: in dbSNP:rs17807493<li>G->S at 2361: in dbSNP:rs3822227<li>P->L at 2396: in dbSNP:rs3733557</ul>									<li>rs17745712</li><li>rs3822227</li><li>rs3733557</li><li>rs1971278</li><li>rs2035820</li><li>rs17745676</li><li>rs16888885</li><li>rs17807493</li>	2
Q8NFD2	255239	<ul><li>D->Y at 4: in dbSNP:rs35657708<li>R->H at 122: in dbSNP:rs35877321<li>A->T at 239: in dbSNP:rs7118900<li>P->L at 276: in dbSNP:rs35488601<li>G->R at 318: in dbSNP:rs11604671<li>K->T at 347: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>L->F at 366: in dbSNP:rs56339158<li>H->Q at 367: in dbSNP:rs34298987<li>E->K at 376: in dbSNP:rs56299709<li>E->K at 426: in dbSNP:rs55699907<li>G->R at 442: in dbSNP:rs4938016<li>G->R at 451: in dbSNP:rs34983219<li>H->R at 490: in dbSNP:rs2734849<li>T->I at 595: in dbSNP:rs55787008<li>P->L at 596: in dbSNP:rs7104979<li>N->S at 653: in dbSNP:rs55849504<li>S->G at 670: in dbSNP:rs56006094<li>E->K at 713: in dbSNP:rs1800497<li>Q->L at 717: in a lung large cell carcinoma sample; somatic mutation<li>R->L at 736: in a lung squamous cell carcinoma sample; somatic mutation<li>E->K at 764: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>									<li>rs4938016</li><li>rs35877321</li><li>rs56006094</li><li>rs7118900</li><li>rs2734849</li><li>rs11604671</li><li>rs56339158</li><li>rs34298987</li><li>rs35657708</li><li>rs34983219</li><li>rs1800497</li><li>rs7104979</li><li>rs55699907</li><li>rs35488601</li><li>rs55787008</li><li>rs55849504</li><li>rs56299709</li>	2
Q8NFD5	57492	<ul><li>G->A at 814: in a breast cancer sample; somatic mutation</ul>										2
Q8NFF2	123041	<ul><li>V->I at 596: in dbSNP:rs4900130</ul>									rs4900130	2
Q8NFG4	201163	<ul><li>S->W at 79: in a sporadic colorectal carcinoma; somatic mutation<li>A->V at 238: in a renal cell carcinoma cell line<li>R->Q at 320: in a primary colorectal cancer<li>R->G at 392: in a primary colorectal cancer; somatic mutation<li>A->S at 444: in a primary clear-cell renal cell carcinoma; somatic mutation<li>A->T at 445: in a sporadic colorectal carcinoma; somatic mutation: in dbSNP rsrs41419545</ul>									rs41419545	2
Q8NFJ5	9052	<ul><li>C->F at 9: in dbSNP:rs11550683<li>S->G at 118: in dbSNP:rs850932<li>T->A at 182: in dbSNP:rs12368599</ul>									<li>rs850932</li><li>rs12368599</li><li>rs11550683</li>	2
Q8NFJ6	128674	<ul><li>R->C at 85<li>R->H at 85: in KAL3, MIM: 244200<li>R->Q at 164: in KAL3, MIM: 244200<li>L->R at 173: in KAL3, MIM: 244200<li>W->S at 178: in KAL3, MIM: 244200<li>Q->R at 210: in KAL3, MIM: 244200<li>R->C at 268, MIM: 244200<li>P->S at 290: in KAL3, MIM: 244200<li>M->I at 323: in KAL3, MIM: 244200<li>V->M at 331, MIM: 244200<li>T->M at 335, MIM: 244200</ul>								Kallmann syndrome type 3 (KAL3) [MIM:244200]		2
Q8NFJ9	582	<ul><li>H->R at 35: in BBS1, MIM: 209900<li>K->E at 53: in BBS1, MIM: 209900<li>D->N at 148: in BBS1, MIM: 209900<li>R->Q at 160: in BBS1, MIM: 209900<li>Missing  at 200-201: in BBS1, MIM: 209900<li>E->K at 234: in BBS1; dbSNP:rs35520756, MIM: 209900<li>G->S at 305: in BBS1, MIM: 209900<li>Missing  at 389: in BBS1, MIM: 209900<li>M->R at 390: in BBS1, MIM: 209900<li>Y->S at 434: in BBS1, MIM: 209900<li>L->H at 503: in BBS1, MIM: 209900<li>L->P at 518: in BBS1, MIM: 209900<li>L->Q at 518: in BBS1, MIM: 209900</ul>							Q8NFJ9	Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	rs35520756	2
Q8NFL0	93010	<ul><li>V->I at 233: in dbSNP:rs2290130</ul>									rs2290130	2
Q8NFM7	54756	<ul><li>T->M at 255: in dbSNP:rs6780995<li>V->M at 301: in dbSNP:rs17057718</ul>									<li>rs17057718</li><li>rs6780995</li>	2
Q8NFN8	165829	<ul><li>D->E at 516: in dbSNP:rs902790</ul>									rs902790	2
Q8NFP4	266727	<ul><li>L->P at 61: in dbSNP:rs10947690</ul>									rs10947690	2
Q8NFP9	26960	<ul><li>A->P at 569: in dbSNP:rs5011295<li>I->V at 2501: in dbSNP:rs11538677</ul>									<li>rs5011295</li><li>rs11538677</li>	2
Q8NFQ5	128859	<ul><li>T->M at 16: in dbSNP:rs17301126<li>V->I at 97: in dbSNP:rs2070317<li>P->T at 149: in dbSNP:rs11907355<li>S->G at 347: in dbSNP:rs4911287</ul>									<li>rs2070317</li><li>rs4911287</li><li>rs11907355</li><li>rs17301126</li>	2
Q8NFQ6	254240	<ul><li>V->A at 269: in dbSNP:rs2076051<li>V->L at 302: in dbSNP:rs5994570<li>S->P at 451: in dbSNP:rs5998478<li>E->A at 479: in dbSNP:rs35856742</ul>									<li>rs35856742</li><li>rs5994570</li><li>rs5998478</li><li>rs2076051</li>	2
Q8NFR7	130940	<ul><li>Q->R at 75: in dbSNP:rs4664950<li>M->V at 157: in dbSNP:rs12620556<li>R->K at 329: in dbSNP:rs7559772</ul>									<li>rs4664950</li><li>rs7559772</li><li>rs12620556</li>	2
Q8NFR9	132014	<ul><li>Y->C at 219: in dbSNP:rs7356031<li>P->S at 402: in dbSNP:rs9870003<li>S->T at 417: in dbSNP:rs7647642</ul>									<li>rs9870003</li><li>rs7647642</li><li>rs7356031</li>	2
Q8NFT8	92737	<ul><li>P->L at 433: in dbSNP:rs17853365</ul>									rs17853365	2
Q8NFU0	266675	<ul><li>Y->C at 62: in dbSNP:rs16832245<li>Y->S at 217: in dbSNP:rs16832242<li>Q->E at 331: in dbSNP:rs16832241<li>R->L at 402: in dbSNP:rs16832239</ul>									<li>rs16832245</li><li>rs16832239</li><li>rs16832241</li><li>rs16832242</li>	2
Q8NFU5	253430	<ul><li>M->I at 349: in dbSNP:rs2275443</ul>									rs2275443	2
Q8NFU7	80312	<ul><li>D->G at 162: in dbSNP:rs10823229<li>S->T at 193: in dbSNP:rs12773594<li>A->V at 256: in dbSNP:rs12221107<li>N->S at 1018: in dbSNP:rs16925541<li>I->M at 1123: in dbSNP:rs3998860</ul>									<li>rs12221107</li><li>rs12773594</li><li>rs3998860</li><li>rs10823229</li><li>rs16925541</li>	2
Q8NFW1	169044	<ul><li>G->S at 320: in dbSNP:rs2292927<li>P->T at 703: in dbSNP:rs10111520<li>A->D at 938: in dbSNP:rs4909444</ul>									<li>rs4909444</li><li>rs10111520</li><li>rs2292927</li>	2
Q8NFW5	127343	<ul><li>A->P at 205: in dbSNP:rs34614765</ul>									rs34614765	2
Q8NFW9	25924	<ul><li>P->S at 673: in dbSNP:rs34800524</ul>									rs34800524	2
Q8NFY4	80031	<ul><li>N->S at 307: in dbSNP:rs3743279<li>S->N at 478: in dbSNP:rs532598<li>S->T at 969: in dbSNP:rs16960074</ul>									<li>rs16960074</li><li>rs532598</li><li>rs3743279</li>	2
Q8NFY9	84541	<ul><li>S->C at 198: in a breast cancer sample; somatic mutation<li>R->K at 405: in a breast cancer sample; somatic mutation<li>C->R at 420: in dbSNP:rs13096789</ul>									rs13096789	2
Q8NFZ5	79155	<ul><li>A->V at 396: in dbSNP:rs2269495</ul>									rs2269495	2
Q8NFZ6	317701	<ul><li>C->R at 38: in dbSNP:rs2965249</ul>									rs2965249	2
Q8NFZ8	199731	<ul><li>T->A at 225: in dbSNP:rs34246023</ul>									rs34246023	2
Q8NG04	65012	<ul><li>M->T at 130: in dbSNP:rs971209<li>A->T at 193: in dbSNP:rs923828<li>L->S at 270: in a colorectal cancer sample; somatic mutation<li>L->V at 546: in dbSNP:rs774895</ul>									<li>rs923828</li><li>rs774895</li><li>rs971209</li>	2
Q8NG06	25893	<ul><li>W->S at 3: in dbSNP:rs11204523<li>V->I at 322: in dbSNP:rs1339847<li>T->M at 374: in dbSNP:rs3811444</ul>									<li>rs1339847</li><li>rs3811444</li><li>rs11204523</li>	2
Q8NG08	92797	<ul><li>E->K at 172: in dbSNP:rs35605829<li>L->P at 191: in dbSNP:rs4430553<li>L->F at 267: in dbSNP:rs35138454<li>P->L at 966: in dbSNP:rs1185244<li>T->I at 980: in dbSNP:rs1168312</ul>									<li>rs4430553</li><li>rs1185244</li><li>rs1168312</li><li>rs35138454</li><li>rs35605829</li>	2
Q8NG27	64219	<ul><li>S->N at 432: in dbSNP:rs5937160<li>E->D at 606: in dbSNP:rs11539157</ul>									<li>rs5937160</li><li>rs11539157</li>	2
Q8NG31	57082	<ul><li>R->T at 43: in dbSNP:rs7177192<li>T->A at 70: in dbSNP:rs16970874<li>T->A at 113: in dbSNP:rs12911738<li>A->S at 486: in dbSNP:rs2412541<li>M->T at 598: in dbSNP rsrs11858113<li>R->G at 936: in dbSNP:rs8040502<li>K->E at 1285: in dbSNP:rs17747633<li>T->A at 1473: in dbSNP:rs16970911</ul>									<li>rs17747633</li><li>rs11858113</li><li>rs16970874</li><li>rs8040502</li><li>rs7177192</li><li>rs12911738</li><li>rs2412541</li><li>rs16970911</li>	2
Q8NG48	55180	<ul><li>I->V at 29: in dbSNP:rs11247226<li>A->V at 331: in dbSNP:rs34967129<li>M->V at 406: in dbSNP:rs12719734<li>S->T at 472: in dbSNP:rs2411837<li>I->V at 541: in dbSNP:rs12915007<li>E->D at 641: in dbSNP:rs12157<li>R->S at 680: in dbSNP:rs8451</ul>									<li>rs34967129</li><li>rs12157</li><li>rs12915007</li><li>rs2411837</li><li>rs8451</li><li>rs12719734</li><li>rs11247226</li>	2
Q8NG50	201299	<ul><li>H->R at 32: in dbSNP:rs2280786<li>C->W at 127: in dbSNP:rs2251660</ul>									<li>rs2280786</li><li>rs2251660</li>	2
Q8NG66	79858	<ul><li>T->M at 108: in a colorectal adenocarcinoma sample; somatic mutation<li>Y->C at 123: in dbSNP rsrs55806123<li>S->L at 213: in dbSNP rsrs55920129<li>I->V at 263: in dbSNP rsrs35567155<li>E->K at 451: in dbSNP rsrs35409692<li>V->E at 488: in dbSNP:rs3738000<li>E->K at 492: in a colorectal adenocarcinoma sample; somatic mutation<li>M->T at 548: in dbSNP rsrs55813244<li>V->A at 562: in dbSNP:rs16836266<li>E->K at 606: in dbSNP rsrs55944737<li>D->N at 617: in a colorectal adenocarcinoma sample; somatic mutation</ul>									<li>rs3738000</li><li>rs55813244</li><li>rs55806123</li><li>rs35567155</li><li>rs55944737</li><li>rs16836266</li><li>rs35409692</li><li>rs55920129</li>	2
Q8NG75	390155	<ul><li>P->L at 60: in dbSNP:rs7126079<li>S->G at 164: in dbSNP:rs12360890</ul>									<li>rs12360890</li><li>rs7126079</li>	2
Q8NG76	391195	<ul><li>A->V at 169: in dbSNP:rs10888338</ul>									rs10888338	2
Q8NG77	127064	<ul><li>K->N at 296: in dbSNP:rs11204625</ul>									rs11204625	2
Q8NG81	391196	<ul><li>V->A at 78: in dbSNP:rs7555310<li>C->F at 178: in dbSNP:rs4916130</ul>									<li>rs4916130</li><li>rs7555310</li>	2
Q8NG85	391192	<ul><li>S->L at 104: in dbSNP:rs6658256</ul>									rs6658256	2
Q8NG92	347468	<ul><li>Y->S at 266: in dbSNP:rs655415</ul>									rs655415	2
Q8NG95	390883	<ul><li>M->V at 29: in dbSNP:rs10414255</ul>									rs10414255	2
Q8NG98	125958	<ul><li>D->G at 52<li>S->C at 75: in dbSNP:rs5020281<li>P->L at 79: impaired response to androstenone and androstadienone<li>S->N at 84: high sensitivity to androstenone and androstadienone; dbSNP:rs5020280<li>R->W at 88: impaired response to androstenone and androstadienone; when associated with M-133<li>H->Q at 131: in dbSNP:rs5020279<li>T->M at 133: impaired response to androstenone and androstadienone; when associated with W-88; dbSNP:rs5020278<li>M->I at 136: in dbSNP:rs5020277<li>C->R at 139: in dbSNP:rs5020276<li>C->Y at 139: in dbSNP:rs5020275<li>L->P at 162<li>A->D at 279<li>L->M at 292: in dbSNP:rs4564704</ul>									<li>rs5020277</li><li>rs5020278</li><li>rs5020279</li><li>rs4564704</li><li>rs5020281</li><li>rs5020280</li><li>rs5020275</li><li>rs5020276</li>	2
Q8NG99		<ul><li>F->V at 281: in dbSNP:rs4804401</ul>									rs4804401	2
Q8NGA0		<ul><li>V->A at 83: in dbSNP:rs6511874<li>W->C at 141: in dbSNP:rs2217657<li>A->V at 156: in dbSNP:rs7246980<li>S->F at 167: in dbSNP:rs7246969<li>Y->C at 252: in dbSNP:rs2195951</ul>									<li>rs6511874</li><li>rs7246980</li><li>rs2195951</li><li>rs2217657</li><li>rs7246969</li>	2
Q8NGA5	126541	<ul><li>N->K at 100: in dbSNP:rs16980994<li>H->R at 144: in dbSNP:rs16980822</ul>									<li>rs16980994</li><li>rs16980822</li>	2
Q8NGB6	390538	<ul><li>G->E at 96: in dbSNP:rs1835183<li>D->N at 121: in dbSNP:rs11857531<li>L->F at 225: in dbSNP:rs491208<li>M->V at 239: in dbSNP:rs12593418<li>R->H at 284: in dbSNP:rs4087943</ul>									<li>rs4087943</li><li>rs491208</li><li>rs11857531</li><li>rs12593418</li><li>rs1835183</li>	2
Q8NGC0	390445	<ul><li>V->M at 80: in dbSNP:rs17102042<li>L->F at 117: in dbSNP:rs4982419<li>I->V at 299: in dbSNP:rs7145814</ul>									<li>rs17102042</li><li>rs7145814</li><li>rs4982419</li>	2
Q8NGC1	390439	<ul><li>I->N at 99: in dbSNP:rs4981822<li>V->I at 116: in dbSNP:rs4981088</ul>									<li>rs4981088</li><li>rs4981822</li>	2
Q8NGC2	26686	<ul><li>V->M at 118: in dbSNP:rs2874103<li>Q->R at 234: in dbSNP:rs970382</ul>									<li>rs970382</li><li>rs2874103</li>	2
Q8NGC3	26534	<ul><li>L->F at 67: in dbSNP:rs10146821<li>R->L at 85: in dbSNP:rs41314525<li>R->P at 187: in dbSNP:rs35963889<li>R->G at 209: in dbSNP:rs12894405</ul>									<li>rs12894405</li><li>rs35963889</li><li>rs41314525</li><li>rs10146821</li>	2
Q8NGC4	26533	<ul><li>S->G at 73: in dbSNP:rs17792778</ul>									rs17792778	2
Q8NGC7	122748	<ul><li>S->Y at 7: in dbSNP:rs10140652<li>L->V at 32: in dbSNP:rs9323693<li>I->T at 107: in dbSNP:rs12891553<li>R->H at 146: in dbSNP:rs17106351<li>L->F at 195: in dbSNP:rs17211285<li>Y->H at 236: in dbSNP:rs17277221<li>C->R at 259: in dbSNP:rs17277228</ul>									<li>rs9323693</li><li>rs17277228</li><li>rs17106351</li><li>rs10140652</li><li>rs12891553</li><li>rs17277221</li><li>rs17211285</li>	2
Q8NGC9	390442	<ul><li>T->S at 301: in dbSNP:rs17277270</ul>									rs17277270	2
Q8NGD0	441670	<ul><li>T->I at 116: in dbSNP:rs2635535<li>G->D at 232: in dbSNP:rs2815960</ul>									<li>rs2635535</li><li>rs2815960</li>	2
Q8NGD1	390429	<ul><li>I->T at 76: in dbSNP:rs2801164<li>P->S at 133: in dbSNP:rs2318279<li>V->L at 135: in dbSNP:rs17114261</ul>									<li>rs17114261</li><li>rs2801164</li><li>rs2318279</li>	2
Q8NGD2	390431	<ul><li>N->I at 307: in dbSNP:rs12883767</ul>									rs12883767	2
Q8NGD3	79317	<ul><li>R->K at 319: in dbSNP:rs17242341</ul>									rs17242341	2
Q8NGD4		<ul><li>R->H at 89: in dbSNP:rs12885778<li>R->Q at 138: in dbSNP:rs3916626<li>R->H at 304: in dbSNP:rs2792146</ul>									<li>rs3916626</li><li>rs2792146</li><li>rs12885778</li>	2
Q8NGD5	122740	<ul><li>M->V at 119: in dbSNP:rs7157076<li>L->R at 145: in dbSNP:rs17308108</ul>									<li>rs17308108</li><li>rs7157076</li>	2
Q8NGE0	121275	<ul><li>V->A at 8: in dbSNP:rs17122812<li>R->Q at 166: in dbSNP:rs17224674<li>F->V at 275: in dbSNP:rs11830378<li>Y->H at 279: in dbSNP:rs11168459</ul>									<li>rs11168459</li><li>rs17224674</li><li>rs17122812</li><li>rs11830378</li>	2
Q8NGE1	341418	<ul><li>I->V at 37: in dbSNP:rs7313899<li>M->T at 83: in dbSNP:rs11835716</ul>									<li>rs11835716</li><li>rs7313899</li>	2
Q8NGE3	121130	<ul><li>P->L at 88: in dbSNP:rs10876838<li>V->M at 200: in dbSNP:rs7970885</ul>									<li>rs7970885</li><li>rs10876838</li>	2
Q8NGE5	121364	<ul><li>G->S at 96: in dbSNP:rs12578318</ul>									rs12578318	2
Q8NGE7	441639	<ul><li>R->C at 45: in dbSNP:rs12303066<li>E->A at 103: in dbSNP:rs7305779<li>R->H at 207: in dbSNP:rs7306491</ul>									<li>rs7305779</li><li>rs12303066</li><li>rs7306491</li>	2
Q8NGE8	390199	<ul><li>Q->R at 159: in dbSNP:rs17501584</ul>									rs17501584	2
Q8NGF0	340980	<ul><li>T->A at 57: in dbSNP:rs1077126<li>L->H at 111: in dbSNP:rs2341432<li>A->T at 167: in dbSNP:rs2341433<li>H->R at 170: in dbSNP:rs2341434<li>V->I at 288: in dbSNP:rs10769086</ul>									<li>rs10769086</li><li>rs2341432</li><li>rs2341433</li><li>rs2341434</li><li>rs1077126</li>	2
Q8NGF3	390038	<ul><li>I->V at 89: in dbSNP:rs905871</ul>									rs905871	2
Q8NGF4	338675	<ul><li>A->T at 105: in dbSNP:rs11606499</ul>									rs11606499	2
Q8NGF7	219965	<ul><li>L->I at 80: in dbSNP:rs4939208<li>Y->C at 308: in dbSNP:rs4127353</ul>									<li>rs4127353</li><li>rs4939208</li>	2
Q8NGF8	119765	<ul><li>C->Y at 63: in dbSNP:rs11606506<li>T->N at 237: in dbSNP:rs12292056</ul>									<li>rs12292056</li><li>rs11606506</li>	2
Q8NGG0	81168	<ul><li>N->T at 57: in dbSNP:rs1947924<li>V->I at 87: in dbSNP:rs7937461<li>V->F at 208: in dbSNP:rs1384094<li>D->E at 271: in dbSNP:rs17150102</ul>									<li>rs7937461</li><li>rs1947924</li><li>rs1384094</li><li>rs17150102</li>	2
Q8NGG3	390154	<ul><li>W->G at 84: in dbSNP:rs17150243</ul>									rs17150243	2
Q8NGG4	219469	<ul><li>G->S at 2: in dbSNP:rs11600896<li>E->V at 22: in dbSNP:rs17540861</ul>									<li>rs11600896</li><li>rs17540861</li>	2
Q8NGG5	390157	<ul><li>M->V at 21: in dbSNP:rs10896271<li>P->T at 27: in dbSNP:rs10896272<li>A->T at 84: in dbSNP:rs17614327</ul>									<li>rs17614327</li><li>rs10896272</li><li>rs10896271</li>	2
Q8NGG7	390275	<ul><li>S->L at 218: in dbSNP:rs12792184</ul>									rs12792184	2
Q8NGG8		<ul><li>R->H at 20: in dbSNP:rs507335<li>M->I at 114: in dbSNP:rs530992</ul>									<li>rs507335</li><li>rs530992</li>	2
Q8NGH9	390081	<ul><li>F->L at 49: in dbSNP:rs16914094<li>V->I at 176: in dbSNP:rs4758168<li>R->M at 184: in dbSNP:rs4757986<li>R->H at 228: in dbSNP:rs4757987<li>F->L at 257: in dbSNP:rs11823842</ul>									<li>rs4757986</li><li>rs4757987</li><li>rs16914094</li><li>rs4758168</li><li>rs11823842</li>	2
Q8NGI0	390077	<ul><li>S->A at 249: in dbSNP:rs8181529<li>H->R at 264: in dbSNP:rs8181512</ul>									<li>rs8181512</li><li>rs8181529</li>	2
Q8NGI2	390072	<ul><li>I->T at 106: in dbSNP:rs7936512<li>R->L at 167: in dbSNP:rs7394584<li>G->W at 209: in dbSNP:rs12363178<li>I->N at 218: in dbSNP:rs7396938</ul>									<li>rs7394584</li><li>rs7396938</li><li>rs12363178</li><li>rs7936512</li>	2
Q8NGI4	219986	<ul><li>F->L at 197: in dbSNP:rs7120079</ul>									rs7120079	2
Q8NGI7	390201	<ul><li>V->A at 117: in dbSNP:rs472177<li>Q->R at 123: in dbSNP:rs499033</ul>									<li>rs499033</li><li>rs472177</li>	2
Q8NGI8	390195	<ul><li>L->F at 289: in dbSNP:rs7941190</ul>									rs7941190	2
Q8NGI9	219981	<ul><li>F->L at 103: in dbSNP:rs17153691<li>P->L at 172: in dbSNP:rs1453547</ul>									<li>rs17153691</li><li>rs1453547</li>	2
Q8NGJ0	219982	<ul><li>I->V at 52: in dbSNP:rs17153732<li>D->N at 183: in dbSNP:rs6591536</ul>									<li>rs17153732</li><li>rs6591536</li>	2
Q8NGJ1	219983	<ul><li>E->Q at 11: in dbSNP:rs17153766<li>M->V at 59: in dbSNP:rs1453544<li>D->G at 96: in dbSNP:rs1453543<li>F->S at 102: in dbSNP:rs17153770<li>D->A at 111: in dbSNP:rs17500380<li>S->T at 151: in dbSNP:rs1453542<li>M->T at 263: in dbSNP:rs1453541</ul>									<li>rs17500380</li><li>rs17153770</li><li>rs17153766</li><li>rs1453544</li><li>rs1453543</li><li>rs1453542</li><li>rs1453541</li>	2
Q8NGJ4	119678	<ul><li>N->S at 5: in dbSNP:rs16909440<li>R->W at 167: in dbSNP:rs11035396<li>C->R at 264: in dbSNP:rs2500052</ul>									<li>rs2500052</li><li>rs11035396</li><li>rs16909440</li>	2
Q8NGJ5	119682	<ul><li>T->I at 196: in dbSNP:rs10768448<li>A->V at 207: in dbSNP:rs10768450</ul>									<li>rs10768450</li><li>rs10768448</li>	2
Q8NGJ6	401666	<ul><li>D->N at 72: in dbSNP:rs2412467<li>R->G at 267: in dbSNP:rs2595988<li>T->M at 288: in dbSNP:rs2442426</ul>									<li>rs2595988</li><li>rs2442426</li><li>rs2412467</li>	2
Q8NGJ7	401667	<ul><li>G->E at 59: in dbSNP:rs1817206<li>M->T at 288: in dbSNP:rs2442426<li>K->N at 289: in dbSNP:rs2570573</ul>									<li>rs2442426</li><li>rs2570573</li><li>rs1817206</li>	2
Q8NGJ8	119692	<ul><li>I->N at 57: in dbSNP:rs12417164<li>Q->E at 60: in dbSNP:rs11602499<li>L->R at 178: in dbSNP:rs7117260<li>L->F at 264: in dbSNP:rs12361955</ul>									<li>rs12361955</li><li>rs7117260</li><li>rs11602499</li><li>rs12417164</li>	2
Q8NGK0	81282	<ul><li>A->E at 94: in dbSNP:rs16907312<li>E->Q at 96: in dbSNP:rs12419598</ul>									<li>rs12419598</li><li>rs16907312</li>	2
Q8NGK1	79324	<ul><li>S->L at 114: in dbSNP:rs10836954<li>R->H at 124: in dbSNP:rs34742470<li>Y->S at 125: in dbSNP:rs1378739<li>I->T at 195: in dbSNP:rs12796015</ul>									<li>rs34742470</li><li>rs10836954</li><li>rs1378739</li><li>rs12796015</li>	2
Q8NGK2	143496	<ul><li>T->I at 139: in dbSNP:rs11031961</ul>									rs11031961	2
Q8NGK3		<ul><li>R->C at 124: in dbSNP:rs11032296<li>R->H at 236: in dbSNP:rs331537<li>R->C at 302: in dbSNP:rs7934336</ul>									<li>rs331537</li><li>rs11032296</li><li>rs7934336</li>	2
Q8NGK5	119772	<ul><li>S->L at 9: in dbSNP:rs7112010<li>S->R at 305: in dbSNP:rs2657167</ul>									<li>rs7112010</li><li>rs2657167</li>	2
Q8NGK6	390037	<ul><li>T->I at 41: in dbSNP:rs2010722</ul>									rs2010722	2
Q8NGK9	390144	<ul><li>A->T at 156: in dbSNP:rs6591700</ul>									rs6591700	2
Q8NGL0	26338	<ul><li>M->R at 81: in dbSNP:rs17148058</ul>									rs17148058	2
Q8NGL1	219438	<ul><li>Y->C at 36: in dbSNP:rs7948629<li>V->M at 118: in dbSNP:rs11231180<li>N->D at 136: in dbSNP:rs297081</ul>									<li>rs7948629</li><li>rs297081</li><li>rs11231180</li>	2
Q8NGL2	219437	<ul><li>I->F at 46: in dbSNP:rs2869020<li>S->P at 287: in dbSNP:rs12790505</ul>									<li>rs12790505</li><li>rs2869020</li>	2
Q8NGL3	219436	<ul><li>S->A at 249: in dbSNP:rs297054<li>L->P at 290: in dbSNP:rs297055</ul>									<li>rs297054</li><li>rs297055</li>	2
Q8NGL4	390142	<ul><li>C->Y at 62: in dbSNP:rs297118<li>R->H at 124: in dbSNP:rs11230983<li>R->L at 236: in dbSNP:rs7124871</ul>									<li>rs11230983</li><li>rs297118</li><li>rs7124871</li>	2
Q8NGL9	219428	<ul><li>V->L at 25: in dbSNP:rs12800642<li>T->A at 49: in dbSNP:rs558465<li>T->A at 76: in dbSNP:rs557590<li>A->T at 203: in dbSNP:rs12288690<li>L->P at 259: in dbSNP:rs559449</ul>									<li>rs12288690</li><li>rs557590</li><li>rs558465</li><li>rs559449</li><li>rs12800642</li>	2
Q8NGM8	390261	<ul><li>T->K at 276: in dbSNP:rs4936845</ul>									rs4936845	2
Q8NGM9	338662	<ul><li>L->R at 55: in dbSNP:rs17127947<li>I->V at 92: in dbSNP:rs17127950<li>C->Y at 120: in dbSNP:rs10750250<li>R->K at 133: in dbSNP:rs7926767<li>F->L at 200: in dbSNP:rs10790610<li>F->S at 205: in dbSNP:rs12270203<li>L->P at 283: in dbSNP:rs7942047<li>R->K at 298: in dbSNP:rs7927385</ul>									<li>rs12270203</li><li>rs10790610</li><li>rs10750250</li><li>rs7942047</li><li>rs7926767</li><li>rs17127947</li><li>rs7927385</li><li>rs17127950</li>	2
Q8NGN1	219874	<ul><li>I->T at 23: in dbSNP:rs6590022<li>R->W at 64: in dbSNP:rs6590021<li>I->V at 251: in dbSNP:rs7937317</ul>									<li>rs6590022</li><li>rs6590021</li><li>rs7937317</li>	2
Q8NGN3	390264	<ul><li>L->P at 24: in dbSNP:rs547068<li>M->V at 134: in dbSNP:rs1893766<li>P->S at 181: in dbSNP:rs1893764<li>V->E at 195: in dbSNP:rs4084209<li>R->Q at 226: in dbSNP:rs11219408<li>R->G at 235: in dbSNP:rs4936880<li>K->Q at 295: in dbSNP:rs4936881</ul>									<li>rs1893764</li><li>rs11219408</li><li>rs4084209</li><li>rs4936880</li><li>rs1893766</li><li>rs4936881</li><li>rs547068</li>	2
Q8NGN4	219870	<ul><li>M->V at 134: in dbSNP:rs12366219<li>S->T at 136: in dbSNP:rs17128190<li>Q->R at 172: in dbSNP:rs11219413</ul>									<li>rs17128190</li><li>rs12366219</li><li>rs11219413</li>	2
Q8NGN6	390265	<ul><li>T->S at 5: in dbSNP:rs3894197<li>T->M at 13: in dbSNP:rs11827843<li>A->V at 18: in dbSNP:rs3894198<li>G->A at 20: in dbSNP:rs3894199<li>I->V at 28: in dbSNP:rs11219420<li>T->A at 90: in dbSNP:rs470208<li>T->S at 136: in dbSNP:rs513591</ul>									<li>rs470208</li><li>rs3894199</li><li>rs513591</li><li>rs11827843</li><li>rs11219420</li><li>rs3894197</li><li>rs3894198</li>	2
Q8NGP2	219477	<ul><li>G->V at 36: in dbSNP:rs7927015<li>M->L at 114: in dbSNP:rs7942730</ul>									<li>rs7927015</li><li>rs7942730</li>	2
Q8NGP3	390162	<ul><li>K->R at 270: in dbSNP:rs1945237</ul>									rs1945237	2
Q8NGQ1	283189	<ul><li>F->S at 43: in dbSNP:rs11228763<li>N->D at 206: in dbSNP:rs577576<li>V->A at 222: in dbSNP:rs513873</ul>									<li>rs11228763</li><li>rs513873</li><li>rs577576</li>	2
Q8NGQ4	219960	<ul><li>E->D at 12: in dbSNP:rs4245219</ul>									rs4245219	2
Q8NGQ5	219956	<ul><li>R->L at 159: in dbSNP:rs12420738</ul>									rs12420738	2
Q8NGR3	392392	<ul><li>W->R at 271: in dbSNP:rs7046603</ul>									rs7046603	2
Q8NGR5	254973	<ul><li>G->R at 234: in dbSNP:rs2215530<li>Y->H at 310: in dbSNP:rs12341025</ul>									<li>rs12341025</li><li>rs2215530</li>	2
Q8NGR6	347169	<ul><li>L->S at 149: in dbSNP:rs1536929<li>A->T at 230: in dbSNP:rs1476859<li>C->W at 263: in dbSNP:rs1476858<li>V->G at 314: in dbSNP:rs1556189</ul>									<li>rs1536929</li><li>rs1476859</li><li>rs1476858</li><li>rs1556189</li>	2
Q8NGR8	138881	<ul><li>T->P at 27: in dbSNP:rs10985704<li>R->P at 211: in dbSNP:rs10739614</ul>									<li>rs10985704</li><li>rs10739614</li>	2
Q8NGR9	138882	<ul><li>W->R at 37: in dbSNP:rs1831370<li>V->G at 244: in dbSNP:rs1341044<li>T->M at 301: in dbSNP:rs1411272</ul>									<li>rs1411272</li><li>rs1341044</li><li>rs1831370</li>	2
Q8NGS0	138883	<ul><li>P->S at 18: in dbSNP:rs10818708<li>T->N at 190: in a breast cancer sample; somatic mutation</ul>									rs10818708	2
Q8NGS2	26740	<ul><li>R->Q at 165: in dbSNP:rs4836891</ul>									rs4836891	2
Q8NGS4	138805	<ul><li>F->S at 18: in dbSNP:rs7049042<li>F->S at 94: in dbSNP:rs7018553<li>M->V at 101: in dbSNP:rs1403812<li>V->I at 134: in dbSNP:rs1403811<li>T->M at 254: in dbSNP:rs7030820<li>I->T at 270: in dbSNP:rs7847413</ul>									<li>rs7847413</li><li>rs1403812</li><li>rs1403811</li><li>rs7049042</li><li>rs7030820</li><li>rs7018553</li>	2
Q8NGS6	138803	<ul><li>K->T at 293: in dbSNP:rs10512330</ul>									rs10512330	2
Q8NGS7	138802	<ul><li>A->D at 19: in dbSNP:rs7026705</ul>									rs7026705	2
Q8NGS8	138799	<ul><li>S->F at 18: in dbSNP:rs1851722<li>F->L at 32: in dbSNP:rs6479260<li>C->Y at 189: in dbSNP:rs4117966<li>N->S at 195: in dbSNP:rs6479259<li>M->T at 258: in dbSNP:rs1851724<li>I->V at 282: in dbSNP:rs1523678<li>M->T at 290: in dbSNP:rs1851725</ul>									<li>rs1523678</li><li>rs4117966</li><li>rs6479259</li><li>rs6479260</li><li>rs1851722</li><li>rs1851725</li><li>rs1851724</li>	2
Q8NGT0	286362	<ul><li>E->D at 24: in dbSNP:rs2900373<li>T->S at 91: in dbSNP:rs993658<li>F->L at 197: in dbSNP:rs10761054</ul>									<li>rs10761054</li><li>rs2900373</li><li>rs993658</li>	2
Q8NGT2	392309	<ul><li>H->R at 133: in dbSNP:rs7044405</ul>									rs7044405	2
Q8NGT5	135924	<ul><li>R->H at 53: in dbSNP:rs9885986</ul>									rs9885986	2
Q8NGT7	346525	<ul><li>A->T at 223: in dbSNP:rs9655672</ul>									rs9655672	2
Q8NGV0	134083	<ul><li>R->C at 128: in dbSNP:rs11960429<li>V->M at 154: in dbSNP:rs11954074<li>V->L at 200: in dbSNP:rs10464105</ul>									<li>rs10464105</li><li>rs11954074</li><li>rs11960429</li>	2
Q8NGV7	79310	<ul><li>I->V at 230: in dbSNP:rs16839214<li>R->C at 266: in dbSNP:rs17787561<li>I->V at 286: in dbSNP:rs16839611</ul>									<li>rs16839611</li><li>rs17787561</li><li>rs16839214</li>	2
Q8NGX0	391189	<ul><li>G->S at 108: in dbSNP:rs10888257<li>F->L at 117: in dbSNP:rs4607924<li>A->T at 142: in dbSNP:rs10888256<li>R->P at 171: in dbSNP:rs10888255</ul>									<li>rs10888255</li><li>rs10888256</li><li>rs10888257</li><li>rs4607924</li>	2
Q8NGX3	128360	<ul><li>V->A at 16: in dbSNP:rs6660222<li>F->L at 65: in dbSNP:rs41488350<li>I->V at 78: in dbSNP:rs6662597<li>I->M at 137: in dbSNP:rs6662382<li>F->L at 155: in dbSNP:rs12062580<li>K->N at 312: in dbSNP:rs6692949</ul>									<li>rs6662597</li><li>rs41488350</li><li>rs6692949</li><li>rs12062580</li><li>rs6662382</li><li>rs6660222</li>	2
Q8NGY0	128367	<ul><li>I->T at 60: in dbSNP:rs863363<li>A->S at 81: in dbSNP:rs950164<li>S->P at 172: in dbSNP:rs7550131<li>F->L at 180: in dbSNP:rs16840360</ul>									<li>rs16840360</li><li>rs950164</li><li>rs863363</li><li>rs7550131</li>	2
Q8NGY1	128368	<ul><li>N->T at 294: in dbSNP:rs857685</ul>									rs857685	2
Q8NGY2	81448	<ul><li>R->Q at 6: in dbSNP:rs413029<li>L->V at 156: in dbSNP:rs423141<li>I->F at 159: in dbSNP:rs6686179</ul>									<li>rs423141</li><li>rs6686179</li><li>rs413029</li>	2
Q8NGY5	128372	<ul><li>A->T at 10: in dbSNP:rs1864346<li>I->T at 194: in dbSNP:rs857827<li>F->L at 245: in dbSNP:rs857826<li>Q->R at 261: in dbSNP:rs857825<li>R->H at 293: in dbSNP:rs857824</ul>									<li>rs1864346</li><li>rs857827</li><li>rs857826</li><li>rs857825</li><li>rs857824</li>	2
Q8NGY6	81442	<ul><li>A->V at 204: in dbSNP:rs12027473</ul>									rs12027473	2
Q8NGY9	391190	<ul><li>Y->C at 217: in dbSNP:rs4925583</ul>									rs4925583	2
Q8NGZ3	441933	<ul><li>I->V at 132: in dbSNP:rs1151640</ul>									rs1151640	2
Q8NGZ4	81469	<ul><li>L->S at 164: in dbSNP:rs6658792<li>V->M at 258: in dbSNP:rs12072304</ul>									<li>rs12072304</li><li>rs6658792</li>	2
Q8NGZ5	81470	<ul><li>P->A at 24: in dbSNP:rs12737801<li>V->L at 120: in dbSNP:rs1151687<li>L->P at 167: in dbSNP:rs10925085<li>R->G at 236: in dbSNP:rs869111</ul>									<li>rs1151687</li><li>rs869111</li><li>rs12737801</li><li>rs10925085</li>	2
Q8NGZ6	343169	<ul><li>P->A at 159: in dbSNP:rs6665599<li>F->L at 215: in dbSNP:rs2282316</ul>									<li>rs6665599</li><li>rs2282316</li>	2
Q8NH01	127077	<ul><li>C->R at 119: in dbSNP:rs1892443<li>Q->R at 309: in dbSNP:rs1892442</ul>									<li>rs1892442</li><li>rs1892443</li>	2
Q8NH03	343173	<ul><li>M->T at 204: in dbSNP:rs1770110</ul>									rs1770110	2
Q8NH04	403239	<ul><li>L->V at 36: in dbSNP:rs1782242</ul>									rs1782242	2
Q8NH05	441669	<ul><li>T->A at 135: in dbSNP:rs17210864<li>F->L at 238: in dbSNP:rs12896533</ul>									<li>rs12896533</li><li>rs17210864</li>	2
Q8NH09		<ul><li>V->M at 48: in dbSNP:rs2731073</ul>									rs2731073	2
Q8NH10	219417	<ul><li>H->R at 20: in dbSNP:rs11228166<li>I->V at 109: in dbSNP:rs12788990<li>S->C at 112: in dbSNP:rs10791961<li>R->C at 165: in dbSNP:rs17150411<li>L->V at 288: in dbSNP:rs1573509<li>Q->R at 293: in dbSNP:rs12272403</ul>									<li>rs11228166</li><li>rs1573509</li><li>rs10791961</li><li>rs12788990</li><li>rs12272403</li><li>rs17150411</li>	2
Q8NH16	26246	<ul><li>F->L at 249: in dbSNP:rs12134979<li>V->L at 259: in dbSNP:rs6658141</ul>									<li>rs6658141</li><li>rs12134979</li>	2
Q8NH18	282775	<ul><li>M->I at 136: in dbSNP:rs12279899</ul>									rs12279899	2
Q8NH42	390433	<ul><li>Q->K at 292: in dbSNP:rs17277025</ul>									rs17277025	2
Q8NH43	122742	<ul><li>D->N at 2: in dbSNP:rs1958715<li>M->V at 40: in dbSNP:rs1958716<li>R->S at 52: in dbSNP:rs1959630<li>S->F at 93: in dbSNP:rs10139756<li>M->K at 101: in dbSNP:rs2775253<li>G->S at 109: in dbSNP:rs2775254</ul>									<li>rs2775253</li><li>rs2775254</li><li>rs1958716</li><li>rs1959630</li><li>rs1958715</li><li>rs10139756</li>	2
Q8NH48	441608	<ul><li>P->L at 30: in dbSNP:rs17152661<li>I->F at 35: in dbSNP:rs17152659<li>W->R at 49: in dbSNP:rs11229413<li>N->S at 170: in dbSNP:rs12280114<li>A->T at 181: in dbSNP:rs11229411<li>I->V at 198: in dbSNP:rs11229410<li>G->A at 247: in dbSNP:rs11229409<li>K->R at 296: in dbSNP:rs12279895</ul>									<li>rs11229409</li><li>rs12279895</li><li>rs17152661</li><li>rs12280114</li><li>rs11229410</li><li>rs11229411</li><li>rs17152659</li><li>rs11229413</li>	2
Q8NH49	390113	<ul><li>R->G at 144: in dbSNP:rs1503193<li>P->L at 165: in dbSNP:rs16905753<li>L->Q at 196: in dbSNP:rs12798361<li>D->N at 246: in dbSNP:rs17199104<li>P->S at 282: in dbSNP:rs10838852</ul>									<li>rs12798361</li><li>rs10838852</li><li>rs17199104</li><li>rs1503193</li><li>rs16905753</li>	2
Q8NH50	219453	<ul><li>F->S at 68: in dbSNP:rs2512938</ul>									rs2512938	2
Q8NH51	219473	<ul><li>L->R at 122: in dbSNP:rs960193<li>V->I at 173: in dbSNP:rs12291617<li>I->M at 275: in dbSNP:rs17150317</ul>									<li>rs960193</li><li>rs17150317</li><li>rs12291617</li>	2
Q8NH53	79473	<ul><li>T->N at 79: in dbSNP:rs12365487<li>A->T at 101: in dbSNP:rs10742787<li>C->Y at 125: in dbSNP:rs10769224<li>R->C at 167: in dbSNP:rs7948009<li>F->I at 247: in dbSNP:rs7934670</ul>									<li>rs12365487</li><li>rs7934670</li><li>rs10742787</li><li>rs7948009</li><li>rs10769224</li>	2
Q8NH54	390083	<ul><li>M->T at 51: in dbSNP:rs1840178</ul>									rs1840178	2
Q8NH55		<ul><li>T->I at 165: in dbSNP:rs17234326<li>D->G at 209: in dbSNP:rs16926732<li>L->P at 234: in dbSNP:rs7106300<li>E->K at 309: in dbSNP:rs4601752</ul>									<li>rs7106300</li><li>rs4601752</li><li>rs16926732</li><li>rs17234326</li>	2
Q8NH56		<ul><li>V->I at 133: in dbSNP:rs12360738</ul>									rs12360738	2
Q8NH59	390061	<ul><li>T->I at 146: in dbSNP:rs10838092<li>C->R at 153: in dbSNP:rs10838093<li>V->I at 155: in dbSNP:rs10838094<li>R->H at 178: in dbSNP:rs10838095<li>V->M at 211: in dbSNP:rs2736586<li>F->S at 308: in dbSNP:rs2647573</ul>									<li>rs2647573</li><li>rs2736586</li><li>rs10838095</li><li>rs10838094</li><li>rs10838093</li><li>rs10838092</li>	2
Q8NH60		<ul><li>A->T at 77: in dbSNP:rs2500016<li>I->V at 128: in dbSNP:rs2500017<li>L->Q at 141: in dbSNP:rs2500018<li>V->I at 226: in dbSNP:rs17350764</ul>									<li>rs2500017</li><li>rs2500018</li><li>rs2500016</li><li>rs17350764</li>	2
Q8NH64	119687	<ul><li>E->K at 8: in dbSNP:rs11034596<li>M->T at 81: in dbSNP:rs7108225<li>V->A at 196: in dbSNP:rs7108654</ul>									<li>rs11034596</li><li>rs7108225</li><li>rs7108654</li>	2
Q8NH67	143502	<ul><li>L->P at 25: in dbSNP:rs7128702<li>I->L at 74: in dbSNP:rs12793957<li>T->M at 167: in dbSNP:rs1847632<li>I->V at 178: in dbSNP:rs7947426<li>I->V at 183: in dbSNP:rs7947432</ul>									<li>rs7947432</li><li>rs12793957</li><li>rs7947426</li><li>rs1847632</li><li>rs7128702</li>	2
Q8NH69	390148	<ul><li>F->L at 39: in dbSNP:rs17511797<li>H->R at 65: in dbSNP:rs12419022<li>M->T at 160: in dbSNP:rs17596519<li>A->P at 163: in dbSNP:rs17148883<li>R->C at 189: in dbSNP:rs2457239<li>F->L at 215: in dbSNP:rs17596422</ul>									<li>rs17596422</li><li>rs17148883</li><li>rs2457239</li><li>rs12419022</li><li>rs17511797</li><li>rs17596519</li>	2
Q8NH70	81327	<ul><li>L->I at 188: in dbSNP:rs11229158<li>H->R at 232: in dbSNP:rs12807769<li>K->M at 303: in dbSNP:rs10896659</ul>									<li>rs12807769</li><li>rs11229158</li><li>rs10896659</li>	2
Q8NH72	219432	<ul><li>I->T at 133: in dbSNP:rs11230600</ul>									rs11230600	2
Q8NH74	390093	<ul><li>A->V at 117: in dbSNP:rs7928451<li>V->G at 140: in dbSNP:rs7933807<li>L->P at 287: in dbSNP:rs4758258</ul>									<li>rs7933807</li><li>rs7928451</li><li>rs4758258</li>	2
Q8NH76	196335	<ul><li>P->S at 277: in dbSNP:rs1462983</ul>									rs1462983	2
Q8NH79	390260	<ul><li>T->N at 190: in dbSNP:rs12364099</ul>									rs12364099	2
Q8NH83	81318	<ul><li>N->S at 6: in dbSNP:rs10902343</ul>									rs10902343	2
Q8NH85	219479	<ul><li>I->T at 7: in dbSNP:rs7931261<li>C->Y at 103: in dbSNP:rs7123108<li>D->G at 121: in dbSNP:rs7111634<li>C->R at 122: in dbSNP:rs6591324<li>S->G at 128: in dbSNP:rs7933772<li>Y->H at 132: in dbSNP:rs17150578<li>I->T at 162: in dbSNP:rs12785840<li>F->L at 184: in dbSNP:rs7930678<li>A->V at 274: in dbSNP:rs998544</ul>									<li>rs6591324</li><li>rs998544</li><li>rs7930678</li><li>rs7111634</li><li>rs7931261</li><li>rs7123108</li><li>rs17150578</li><li>rs12785840</li><li>rs7933772</li>	2
Q8NH87	390174	<ul><li>C->R at 53: in dbSNP:rs532637<li>F->V at 61: in dbSNP:rs3975155<li>T->I at 83: in dbSNP:rs602224<li>Y->C at 112: in dbSNP:rs4990194<li>V->M at 117: in dbSNP:rs591369<li>R->C at 169: in dbSNP:rs11228733<li>E->K at 185: in dbSNP:rs11228735<li>K->Q at 231: in dbSNP:rs12420076<li>A->S at 259: in dbSNP:rs7121276</ul>									<li>rs12420076</li><li>rs11228735</li><li>rs591369</li><li>rs11228733</li><li>rs3975155</li><li>rs7121276</li><li>rs602224</li><li>rs4990194</li><li>rs532637</li>	2
Q8NH90	390181	<ul><li>G->V at 4: in dbSNP:rs10896563<li>M->I at 92: in dbSNP:rs2853083</ul>									<li>rs2853083</li><li>rs10896563</li>	2
Q8NH92	219959	<ul><li>S->G at 5: in dbSNP:rs1966836<li>I->T at 123: in dbSNP:rs1966835<li>H->R at 135: in dbSNP:rs1966834<li>N->D at 183: in dbSNP:rs1993088<li>L->M at 206: in dbSNP:rs2867400<li>S->I at 227: in dbSNP:rs2903566</ul>									<li>rs1966835</li><li>rs1966834</li><li>rs1966836</li><li>rs1993088</li><li>rs2867400</li><li>rs2903566</li>	2
Q8NH93	26735	<ul><li>V->A at 106: in dbSNP:rs16912096<li>N->D at 121: in dbSNP:rs16912099</ul>									<li>rs16912099</li><li>rs16912096</li>	2
Q8NH94		<ul><li>S->G at 145: in dbSNP:rs70157<li>T->A at 149: in dbSNP:rs16912055<li>L->V at 308: in dbSNP:rs237620<li>G->R at 349: in dbSNP:rs16912062</ul>									<li>rs16912055</li><li>rs70157</li><li>rs237620</li><li>rs16912062</li>	2
Q8NHA4	81392	<ul><li>I->T at 77: in dbSNP:rs2572023<li>L->V at 267: in dbSNP:rs17161997</ul>									<li>rs2572023</li><li>rs17161997</li>	2
Q8NHC5	284532	<ul><li>I->T at 238: in dbSNP:rs6695283</ul>									rs6695283	2
Q8NHC8	254879	<ul><li>T->N at 57: in dbSNP:rs6693032<li>L->P at 159: in dbSNP:rs6701129<li>S->A at 243: in dbSNP:rs954475</ul>									<li>rs6701129</li><li>rs954475</li><li>rs6693032</li>	2
Q8NHH9	64225	<ul><li>W->R at 18: in dbSNP:rs3731847<li>N->S at 272: in dbSNP:rs34873284<li>D->H at 420: in dbSNP:rs7582826</ul>									<li>rs34873284</li><li>rs3731847</li><li>rs7582826</li>	2
Q8NHJ6	11006	<ul><li>F->L at 5: in dbSNP:rs28366008<li>R->S at 18: in dbSNP:rs11574570<li>H->D at 20: in dbSNP:rs11540762<li>G->D at 223: in dbSNP:rs731170<li>C->Y at 330: in dbSNP:rs11574575<li>N->D at 335: in dbSNP:rs11574576<li>K->E at 362: in dbSNP:rs2764337<li>K->T at 362: in dbSNP:rs11574589<li>Q->R at 414: in dbSNP:rs1048801</ul>									<li>rs731170</li><li>rs11574570</li><li>rs28366008</li><li>rs11540762</li><li>rs1048801</li><li>rs2764337</li><li>rs11574589</li><li>rs11574576</li><li>rs11574575</li>	2
Q8NHL6	10859	<ul><li>L->P at 68: in dbSNP:rs1061679<li>A->T at 93: in dbSNP:rs12460501<li>I->T at 142: in dbSNP:rs1061680<li>S->I at 155: in dbSNP:rs1061681<li>L->F at 620: in dbSNP:rs634222</ul>									<li>rs634222</li><li>rs1061680</li><li>rs12460501</li><li>rs1061681</li><li>rs1061679</li>	2
Q8NHP1	246181	<ul><li>A->T at 255: in dbSNP:rs2235795<li>F->V at 322: in dbSNP:rs2982534</ul>									<li>rs2982534</li><li>rs2235795</li>	2
Q8NHP6	158747	<ul><li>S->N at 240: in dbSNP:rs35164803</ul>									rs35164803	2
Q8NHP7	161829	<ul><li>A->T at 489: in dbSNP:rs522063</ul>									rs522063	2
Q8NHP8	196463	<ul><li>R->C at 524: in dbSNP:rs12425042</ul>									rs12425042	2
Q8NHQ1	80321	<ul><li>S->N at 135: in dbSNP:rs1673607</ul>									rs1673607	2
Q8NHQ9		<ul><li>V->L at 101: in dbSNP:rs17881657<li>E->G at 154: in dbSNP:rs17886035<li>N->S at 264: in dbSNP:rs11057306<li>N->S at 556: in dbSNP:rs10773019</ul>									<li>rs11057306</li><li>rs17886035</li><li>rs17881657</li><li>rs10773019</li>	2
Q8NHR7	145645	<ul><li>P->R at 31: in dbSNP:rs11638723</ul>									rs11638723	2
Q8NHS0	165721	<ul><li>M->L at 153: in dbSNP:rs35948511</ul>									rs35948511	2
Q8NHS3	256471	<ul><li>V->G at 109: in dbSNP:rs11732377<li>G->D at 310: in CLN7; lysosomal localization, MIM: 610951<li>G->R at 385: in dbSNP:rs11098943, MIM: 610951<li>A->V at 423: in dbSNP:rs3733319, MIM: 610951<li>G->D at 429: in CLN7; lysosomal localization, MIM: 610951</ul>	localization	GO:0051179						Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	<li>rs3733319</li><li>rs11732377</li><li>rs11098943</li>	2
Q8NHS4	130162	<ul><li>A->V at 178: in dbSNP:rs9677948<li>I->V at 426: in dbSNP:rs6716066<li>A->V at 503: in dbSNP:rs14026<li>D->Y at 552: in dbSNP:rs3186099</ul>									<li>rs14026</li><li>rs3186099</li><li>rs9677948</li><li>rs6716066</li>	2
Q8NHS9	84690	<ul><li>R->T at 112: in dbSNP:rs2291604<li>M->V at 148: in dbSNP:rs1488690<li>Q->R at 155: in dbSNP:rs11556563<li>T->I at 160: in dbSNP:rs1488689</ul>									<li>rs1488690</li><li>rs11556563</li><li>rs1488689</li><li>rs2291604</li>	2
Q8NHU2	26074	<ul><li>P->R at 74: in dbSNP:rs17852602<li>H->R at 254: in dbSNP:rs6075614<li>V->I at 369: in dbSNP:rs6081901<li>P->L at 371: in dbSNP:rs6075628<li>D->E at 505: in dbSNP:rs7344530<li>P->L at 660: in dbSNP:rs6081930<li>V->I at 671: in dbSNP:rs6046740</ul>									<li>rs6081930</li><li>rs6075628</li><li>rs6081901</li><li>rs6075614</li><li>rs7344530</li><li>rs17852602</li><li>rs6046740</li>	2
Q8NHU3	166929	<ul><li>T->M at 21: in dbSNP:rs17038204</ul>									rs17038204	2
Q8NHU6	23424	<ul><li>V->A at 150: in dbSNP:rs2045732<li>P->L at 456: in dbSNP:rs17852595</ul>									<li>rs2045732</li><li>rs17852595</li>	2
Q8NHV1	168537	<ul><li>R->C at 83: in dbSNP:rs3735080</ul>									rs3735080	2
Q8NHV9	158800	<ul><li>R->H at 172: in dbSNP:rs2301977</ul>									rs2301977	2
Q8NHW6	150677	<ul><li>P->L at 7: in dbSNP rsrs35889242</ul>									rs35889242	2
Q8NHX9	219931	<ul><li>K->R at 376: in dbSNP:rs3750965<li>M->L at 484: associated with SHEP10; dbSNP:rs35264875<li>L->P at 564: in dbSNP:rs2376558<li>G->E at 734: associated with SHEP10; dbSNP:rs3829241</ul>									<li>rs2376558</li><li>rs3750965</li><li>rs3829241</li><li>rs35264875</li>	2
Q8NHY0	124872	<ul><li>D->A at 40: in dbSNP:rs7207403<li>P->H at 459: in a colorectal cancer sample; somatic mutation<li>C->R at 466: in dbSNP:rs7224888</ul>									<li>rs7207403</li><li>rs7224888</li>	2
Q8NHY3	246176	<ul><li>A->T at 540: in dbSNP:rs12602590<li>A->V at 654: in dbSNP:rs3744374</ul>									<li>rs12602590</li><li>rs3744374</li>	2
Q8NHY5	135458	<ul><li>H->Q at 130: in dbSNP:rs1766848<li>Q->R at 201: in dbSNP:rs17136239<li>Y->D at 268: in dbSNP:rs1211554</ul>									<li>rs1211554</li><li>rs17136239</li><li>rs1766848</li>	2
Q8NHY6	140612	<ul><li>S->W at 141: in dbSNP:rs34136271<li>A->V at 620: in dbSNP:rs10409531</ul>									<li>rs10409531</li><li>rs34136271</li>	2
Q8NI08	135112	<ul><li>S->A at 399: in dbSNP:rs6919947<li>G->R at 533: in dbSNP:rs35223550<li>D->E at 942: in dbSNP:rs1567</ul>									<li>rs6919947</li><li>rs1567</li><li>rs35223550</li>	2
Q8NI17	133396	<ul><li>D->N at 155: in dbSNP:rs13184107<li>S->N at 497: in dbSNP:rs161704</ul>									<li>rs13184107</li><li>rs161704</li>	2
Q8NI22	90411	<ul><li>D->E at 129: in F5F8D: in dbSNP rsrs28942113, MIM: 227300<li>I->T at 136: in F5F8D: in dbSNP rsrs28942114, MIM: 227300</ul>							P49257	Factor V and factor VIII combined deficiency (F5F8D) [MIM:227300]	<li>rs28942113</li><li>rs28942114</li>	2
Q8NI35	10207	<ul><li>G->R at 303: in dbSNP:rs3762321<li>E->A at 362: in dbSNP:rs1286823<li>I->V at 400: in dbSNP:rs7516332<li>Q->H at 599: in dbSNP:rs1286812<li>C->R at 744: in dbSNP:rs1134764<li>E->K at 779: in dbSNP:rs12141598<li>E->K at 780: in dbSNP:rs12141599<li>I->M at 870: in dbSNP:rs2799627<li>G->S at 1178: in dbSNP:rs1056513<li>R->H at 1282: in dbSNP:rs1134767<li>V->L at 1360: in dbSNP:rs2498982<li>A->P at 1504: in dbSNP:rs13376115</ul>									<li>rs1056513</li><li>rs2498982</li><li>rs1134767</li><li>rs7516332</li><li>rs13376115</li><li>rs3762321</li><li>rs1134764</li><li>rs1286823</li><li>rs12141598</li><li>rs12141599</li><li>rs1286812</li><li>rs2799627</li>	2
Q8NI36	134430	<ul><li>L->P at 25: possible disease-susceptibility mutation<li>A->V at 163: possible disease-susceptibility mutation<li>Y->P at 216: possible disease-susceptibility mutation; requires 2 nucleotide substitutions<li>I->V at 264: in dbSNP:rs11241095<li>N->S at 355: in GLC1G, MIM: 609887<li>A->T at 449: in GLC1G: in dbSNP rsrs35703638, MIM: 609887<li>E->Q at 454: in dbSNP:rs17623803, MIM: 609887<li>R->Q at 529: in GLC1G, MIM: 609887<li>D->G at 658: in GLC1G: in dbSNP rsrs34595252, MIM: 609887<li>M->V at 671: in dbSNP:rs11956837, MIM: 609887</ul>								Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	<li>rs35703638</li><li>rs11241095</li><li>rs34595252</li><li>rs17623803</li><li>rs11956837</li>	2
Q8NI38	84807	<ul><li>V->A at 29: in dbSNP:rs8113704</ul>									rs8113704	2
Q8NI51	140690	<ul><li>E->Q at 50: in dbSNP:rs6070128<li>A->T at 177: in dbSNP:rs6025606<li>Q->E at 525: in dbSNP:rs6070122</ul>									<li>rs6070128</li><li>rs6025606</li><li>rs6070122</li>	2
Q8NI60	56997	<ul><li>H->Q at 85: in dbSNP:rs2297411<li>R->W at 213: in coenzyme Q10 deficiency, MIM: 607426<li>G->D at 272: in coenzyme Q10 deficiency, MIM: 607426<li>G->V at 272: in coenzyme Q10 deficiency, MIM: 607426<li>I->T at 341: in dbSNP:rs55798516, MIM: 607426<li>Y->C at 514: in SCAR9, MIM: 612016<li>G->S at 549: in SCAR9, MIM: 612016<li>E->K at 551: in coenzyme Q10 deficiency, MIM: 607426<li>Missing  at 584: in SCAR9, MIM: 607426</ul>								<li>Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]</li><li>Coenzyme Q10 deficiency [MIM:607426]</li>	<li>rs2297411</li><li>rs55798516</li>	2
Q8NI77	81930	<ul><li>T->A at 273: in dbSNP:rs12272419<li>P->S at 334: in dbSNP:rs34913484<li>I->V at 735: in dbSNP:rs10458896</ul>									<li>rs12272419</li><li>rs34913484</li><li>rs10458896</li>	2
Q8TA86	6100	<ul><li>H->L at 137: in RP9, MIM: 180104<li>D->G at 170: in RP9, MIM: 180104<li>K->R at 210, MIM: 180104</ul>							<li>Q8TA86</li><li>P02365</li>	Retinitis pigmentosa type 9 (RP9) [MIM:180104]		2
Q8TAA1	122651	<ul><li>P->S at 5: in dbSNP:rs17113756<li>T->S at 74: in dbSNP:rs35818240</ul>									<li>rs17113756</li><li>rs35818240</li>	2
Q8TAA9	81839	<ul><li>A->T at 116: in dbSNP:rs4839469<li>V->I at 239: in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3, MIM: 600145<li>R->Q at 274: in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3, MIM: 182940<li>M->T at 328: in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3, MIM: 182940<li>E->A at 347: in dbSNP:rs34059106, MIM: 182940</ul>							<li>P54792</li><li>Q5IS48</li><li>O14641</li><li>O14640</li><li>Q92997</li>	<li>Sacral defect with anterior meningocele (SDAM) [MIM:600145]</li><li>Neural tube defects (NTD) [MIM:182940]</li>	<li>rs4839469</li><li>rs34059106</li>	2
Q8TAB3		<ul><li>V->E at 441: in EFMR, MIM: 300088<li>N->K at 557: in EFMR, MIM: 300088</ul>								Epilepsy, female-restricted, with mental retardation (EFMR) [MIM:300088]		2
Q8TAD1	171489	<ul><li>V->L at 68: in dbSNP:rs5953618</ul>									rs5953618	2
Q8TAE6	81706	<ul><li>T->A at 10: in dbSNP:rs2297672</ul>									rs2297672	2
Q8TAF7	92283	<ul><li>N->S at 87: in dbSNP:rs10419469</ul>									rs10419469	2
Q8TAF8	222662	<ul><li>Y->C at 127: in DFNB67, MIM: 610265<li>T->M at 165: in DFNB67, MIM: 610265<li>R->L at 176: in DFNB67, MIM: 610265</ul>								Autosomal recessive non-syndromic sensorineural deafness 67 (DFNB67) [MIM:610265]		2
Q8TAG5		<ul><li>E->K at 83: in dbSNP:rs17855529</ul>									rs17855529	2
Q8TAG9	54536	<ul><li>T->I at 396: in dbSNP:rs1326331<li>L->V at 523: in dbSNP:rs11187225<li>T->I at 578: in dbSNP:rs35647717</ul>									<li>rs11187225</li><li>rs1326331</li><li>rs35647717</li>	2
Q8TAI1	494514	<ul><li>G->R at 62: in dbSNP:rs2853533</ul>									rs2853533	2
Q8TAK5	126626	<ul><li>V->I at 62: in dbSNP:rs11204774</ul>									rs11204774	2
Q8TAM1	79738	<ul><li>R->P at 34: in BBS10, MIM: 209900<li>R->W at 49: in BBS10, MIM: 209900<li>C->W at 91: in BBS10, MIM: 209900<li>L->S at 170: in BBS10, MIM: 209900<li>C->W at 195: in BBS10, MIM: 209900<li>Y->C at 197: in BBS10, MIM: 209900<li>V->G at 240: in BBS10, MIM: 209900<li>L->F at 308: in BBS10, MIM: 209900<li>S->A at 311: in BBS10, MIM: 209900<li>S->L at 329: in BBS10, MIM: 209900<li>P->L at 363: in BBS10, MIM: 209900<li>L->F at 376: in dbSNP:rs11109474, MIM: 209900<li>L->S at 414: in BBS10, MIM: 209900<li>P->L at 539: in dbSNP:rs35676114, MIM: 209900<li>K->R at 579: in BBS10, MIM: 209900<li>Y->C at 613: in BBS10, MIM: 209900<li>Y->H at 613: in BBS10, MIM: 209900<li>G->V at 677: in BBS10, MIM: 209900<li>T->P at 689: in BBS10, MIM: 209900</ul>							<li>Q5R8P3</li><li>Q8TAM1</li>	Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	<li>rs35676114</li><li>rs11109474</li>	2
Q8TAM2		<ul><li>Missing  at 187-188: in BBS8</ul>							Q8TAM2			2
Q8TAP9	136647	<ul><li>G->E at 29: in a breast cancer sample; somatic mutation<li>M->V at 144: in TTDN1, MIM: 234050</ul>							Q8TAP9	Trichothiodystrophy non-photosensitive type 1 (TTDN1) [MIM:234050]		2
Q8TAQ9	256979	<ul><li>I->V at 127: in dbSNP:rs17852360<li>L->V at 177: in dbSNP:rs7797657</ul>									<li>rs17852360</li><li>rs7797657</li>	2
Q8TAS1	127933	<ul><li>L->V at 159: in dbSNP:rs34466082<li>Y->D at 197: in dbSNP rsrs56201055</ul>									<li>rs56201055</li><li>rs34466082</li>	2
Q8TAT2	143282	<ul><li>E->V at 206: in dbSNP:rs1107947</ul>									rs1107947	2
Q8TAT5	55247	<ul><li>R->C at 38: in dbSNP rsrs34007209<li>N->NN at 58<li>V->M at 76: in dbSNP rsrs34112288<li>P->R at 117: in dbSNP:rs7689099<li>Q->H at 172: in dbSNP rsrs17064658<li>H->R at 286: in dbSNP rsrs34193982<li>I->V at 346: in dbSNP rsrs17064676<li>L->P at 443: in dbSNP:rs13112358<li>H->Q at 471: in dbSNP rsrs13112390<li>R->G at 520: in dbSNP:rs1876268<li>A->S at 547: in dbSNP rsrs36005630<li>H->R at 556: in dbSNP rsrs35418725</ul>									<li>rs1876268</li><li>rs17064676</li><li>rs34193982</li><li>rs34112288</li><li>rs13112358</li><li>rs17064658</li><li>rs35418725</li><li>rs36005630</li><li>rs13112390</li><li>rs34007209</li><li>rs7689099</li>	2
Q8TAV3	54905	<ul><li>A->T at 181: in dbSNP:rs3735684</ul>									rs3735684	2
Q8TAW3	79891	<ul><li>A->V at 149: in dbSNP:rs3746207<li>P->S at 237: in dbSNP:rs34419645</ul>									<li>rs34419645</li><li>rs3746207</li>	2
Q8TAX7	4589	<ul><li>N->K at 80: in dbSNP:rs6826961</ul>									rs6826961	2
Q8TAX9	55876	<ul><li>E->G at 122: in dbSNP:rs12450091<li>T->A at 132: in dbSNP:rs4619433<li>D->G at 245: in a breast cancer sample; somatic mutation<li>G->R at 299: in dbSNP:rs2305479<li>P->S at 306: in dbSNP:rs2305480<li>R->C at 325: in dbSNP:rs16965388</ul>									<li>rs4619433</li><li>rs16965388</li><li>rs12450091</li><li>rs2305479</li><li>rs2305480</li>	2
Q8TAY4		<ul><li>Q->H at 69: in dbSNP:rs35549148</ul>									rs35549148	2
Q8TAY7	79927	<ul><li>H->R at 53: in dbSNP:rs3748856</ul>									rs3748856	2
Q8TAZ6	146225	<ul><li>I->T at 122: in dbSNP:rs2290182</ul>									rs2290182	2
Q8TB03	159013	<ul><li>T->A at 176: in dbSNP:rs17145855</ul>									rs17145855	2
Q8TB22	64847	<ul><li>Q->E at 88: in dbSNP:rs8076632<li>S->T at 483: in dbSNP:rs9913430<li>R->K at 609: in dbSNP:rs8065903</ul>									<li>rs8076632</li><li>rs8065903</li><li>rs9913430</li>	2
Q8TB24	79890	<ul><li>E->K at 111: in dbSNP:rs2274542<li>H->P at 215: in dbSNP:rs3829947<li>T->I at 425: in dbSNP:rs3742717<li>T->M at 425: in dbSNP:rs3742717<li>G->A at 613: in dbSNP:rs12434929</ul>									<li>rs2274542</li><li>rs3829947</li><li>rs12434929</li><li>rs3742717</li>	2
Q8TB36	54332	<ul><li>R->Q at 120: in CMT4A, MIM: 214400<li>R->H at 161: in CMT4A, MIM: 214400<li>R->C at 282: in CMT4A: in dbSNP rsrs28937906, MIM: 214400<li>R->Q at 310: in CMT2RV, MIM: 607706</ul>								<li>Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV) [MIM:607706]</li><li>Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]</li>	rs28937906	2
Q8TB37	80224	<ul><li>N->T at 198: in dbSNP:rs17855507</ul>									rs17855507	2
Q8TB45	64798	<ul><li>N->S at 148: in dbSNP:rs34057546<li>S->N at 204: in dbSNP:rs2271900<li>S->N at 389: in dbSNP:rs4871827</ul>									<li>rs4871827</li><li>rs2271900</li><li>rs34057546</li>	2
Q8TB52	84085	<ul><li>S->C at 8: in a colorectal cancer sample; somatic mutation<li>V->M at 375: in dbSNP:rs9373475<li>S->C at 382: in dbSNP:rs17075385<li>H->Q at 583: in dbSNP:rs3811102</ul>									<li>rs3811102</li><li>rs17075385</li><li>rs9373475</li>	2
Q8TB61	347734	<ul><li>L->V at 342: in dbSNP:rs3734707</ul>									rs3734707	2
Q8TB68	80758	<ul><li>P->H at 127: in dbSNP:rs17851889</ul>									rs17851889	2
Q8TB69	162655	<ul><li>W->R at 18: in dbSNP:rs16941623<li>G->S at 89: in dbSNP:rs10221432<li>E->K at 206: in dbSNP:rs2159940<li>R->I at 229: in dbSNP:rs8094412</ul>									<li>rs8094412</li><li>rs10221432</li><li>rs2159940</li><li>rs16941623</li>	2
Q8TBB5	54758	<ul><li>L->V at 56: in dbSNP:rs2303772<li>T->I at 102: in dbSNP:rs2303771<li>L->V at 155: in dbSNP:rs3751727</ul>									<li>rs3751727</li><li>rs2303771</li><li>rs2303772</li>	2
Q8TBB6	57709	<ul><li>G->R at 330: in dbSNP:rs2276717</ul>									rs2276717	2
Q8TBC3	92799	<ul><li>Q->L at 507: in dbSNP:rs17855499</ul>									rs17855499	2
Q8TBC4	9039	<ul><li>K->R at 9: in dbSNP:rs17852113</ul>									rs17852113	2
Q8TBC5	65982	<ul><li>G->E at 379: in dbSNP:rs2258557</ul>									rs2258557	2
Q8TBE0	22893	<ul><li>E->G at 26: in dbSNP:rs3743143<li>D->H at 182: in dbSNP:rs17856679<li>Q->K at 298: in dbSNP:rs3803357</ul>									<li>rs17856679</li><li>rs3743143</li><li>rs3803357</li>	2
Q8TBE3	408263	<ul><li>H->N at 50: in dbSNP:rs17852104<li>V->I at 138: in dbSNP:rs10037485<li>P->A at 166: in dbSNP:rs17054522</ul>									<li>rs10037485</li><li>rs17054522</li><li>rs17852104</li>	2
Q8TBE7	80723	<ul><li>R->K at 400: in dbSNP:rs1052618</ul>									rs1052618	2
Q8TBF4	85437	<ul><li>P->Q at 131: in dbSNP:rs17852093</ul>									rs17852093	2
Q8TBF5	54965	<ul><li>P->L at 155: in dbSNP:rs2291397<li>E->D at 197: in dbSNP:rs17852091</ul>									<li>rs17852091</li><li>rs2291397</li>	2
Q8TBG4	64850	<ul><li>S->P at 185: in dbSNP:rs1377210</ul>									rs1377210	2
Q8TBH0	27106	<ul><li>R->H at 181: in dbSNP:rs17852061<li>R->H at 192: in dbSNP:rs17852062<li>A->T at 244: in dbSNP:rs8110271<li>L->P at 396: in dbSNP:rs7259041</ul>									<li>rs17852062</li><li>rs7259041</li><li>rs17852061</li><li>rs8110271</li>	2
Q8TBJ5	55079	<ul><li>P->T at 164: in dbSNP:rs17852031<li>S->W at 250: in dbSNP:rs17852032</ul>									<li>rs17852032</li><li>rs17852031</li>	2
Q8TBN0	5866	<ul><li>Q->R at 49: in dbSNP:rs174477<li>H->Y at 323: in dbSNP:rs3815045</ul>									<li>rs3815045</li><li>rs174477</li>	2
Q8TBP0	125058	<ul><li>E->K at 476: in dbSNP:rs34845477</ul>									rs34845477	2
Q8TBP6	55972	<ul><li>T->I at 123: in dbSNP:rs724665<li>K->Q at 186: in dbSNP:rs3213633</ul>									<li>rs3213633</li><li>rs724665</li>	2
Q8TBR4	64940	<ul><li>E->Q at 116: in dbSNP:rs1045513</ul>									rs1045513	2
Q8TBX8	79837	<ul><li>V->A at 84: in dbSNP:rs17550713<li>K->R at 241: in dbSNP:rs17852569<li>G->A at 300: in dbSNP:rs2277319</ul>									<li>rs17852569</li><li>rs2277319</li><li>rs17550713</li>	2
Q8TBY8	83449	<ul><li>A->T at 172: in dbSNP:rs217180<li>E->K at 193: in dbSNP:rs35370634<li>R->L at 381: in dbSNP:rs35781168<li>K->T at 650: in dbSNP:rs34832584</ul>									<li>rs34832584</li><li>rs35781168</li><li>rs217180</li><li>rs35370634</li>	2
Q8TBY9	144406	<ul><li>E->G at 66: in dbSNP:rs12824001<li>T->M at 388: in dbSNP:rs34768683<li>L->F at 450: in dbSNP:rs11043265</ul>									<li>rs12824001</li><li>rs11043265</li><li>rs34768683</li>	2
Q8TBZ0	256309	<ul><li>P->Q at 209: in dbSNP:rs7699687<li>L->M at 299: in dbSNP:rs7698680<li>L->M at 382: in dbSNP:rs9999097<li>S->F at 409: in dbSNP:rs11132306<li>I->M at 614: in dbSNP:rs35596415<li>Q->R at 669: in dbSNP:rs6827370<li>S->L at 817: in dbSNP:rs9683564<li>L->M at 819: in dbSNP:rs34800518</ul>									<li>rs7699687</li><li>rs34800518</li><li>rs11132306</li><li>rs9999097</li><li>rs6827370</li><li>rs7698680</li><li>rs9683564</li><li>rs35596415</li>	2
Q8TBZ2		<ul><li>A->T at 387: in dbSNP:rs1380657<li>R->W at 688: in dbSNP:rs9890721<li>S->R at 910: in dbSNP:rs1133818</ul>									<li>rs1380657</li><li>rs9890721</li><li>rs1133818</li>	2
Q8TBZ3	91833	<ul><li>P->H at 159: in dbSNP:rs17852545<li>G->C at 444: in dbSNP:rs12888595</ul>									<li>rs12888595</li><li>rs17852545</li>	2
Q8TBZ5	91392	<ul><li>L->P at 28: in dbSNP:rs6798400<li>E->A at 243: in dbSNP:rs7640654</ul>									<li>rs7640654</li><li>rs6798400</li>	2
Q8TBZ6	93587	<ul><li>P->Q at 82: in a breast cancer sample; somatic mutation<li>R->Q at 133: in dbSNP:rs10007569</ul>									rs10007569	2
Q8TBZ9	219557	<ul><li>D->H at 48: in dbSNP:rs2373396<li>I->V at 126: in dbSNP:rs2293583<li>C->S at 186: in dbSNP:rs34276371<li>E->A at 221: in dbSNP:rs2373398<li>E->K at 221: in dbSNP:rs2373397</ul>									<li>rs2373398</li><li>rs34276371</li><li>rs2373396</li><li>rs2373397</li><li>rs2293583</li>	2
Q8TC05	56890	<ul><li>T->I at 103: in dbSNP:rs962976<li>V->I at 383: in dbSNP:rs17224810<li>R->H at 489: in dbSNP:rs2306393<li>P->L at 552: in dbSNP:rs2306392</ul>									<li>rs17224810</li><li>rs2306392</li><li>rs2306393</li><li>rs962976</li>	2
Q8TC20	285782	<ul><li>T->I at 169: in dbSNP:rs10223538<li>E->A at 282: in dbSNP:rs2876098</ul>									<li>rs2876098</li><li>rs10223538</li>	2
Q8TC21	169270	<ul><li>T->K at 130: in dbSNP:rs2074718<li>V->G at 470: in dbSNP:rs2072174</ul>									<li>rs2074718</li><li>rs2072174</li>	2
Q8TC27	203102	<ul><li>Q->R at 98: in dbSNP:rs17856744<li>S->G at 160: in dbSNP:rs17852343<li>L->V at 327: in dbSNP:rs9643859<li>S->T at 467: in dbSNP:rs7845771<li>K->N at 658: in dbSNP:rs13277386</ul>									<li>rs13277386</li><li>rs7845771</li><li>rs17856744</li><li>rs17852343</li><li>rs9643859</li>	2
Q8TC36	140732	<ul><li>E->K at 16: in dbSNP:rs3746387<li>E->D at 39: in dbSNP:rs1133358<li>I->V at 120: in dbSNP:rs35216976<li>A->T at 174: in dbSNP:rs17123951</ul>									<li>rs17123951</li><li>rs1133358</li><li>rs35216976</li><li>rs3746387</li>	2
Q8TC41	154214	<ul><li>V->I at 89: in dbSNP:rs475076</ul>									rs475076	2
Q8TC56	153745	<ul><li>A->V at 543: in dbSNP:rs17852327<li>M->T at 564: in dbSNP:rs31208<li>V->I at 599: in dbSNP:rs2115480</ul>									<li>rs17852327</li><li>rs2115480</li><li>rs31208</li>	2
Q8TC57	130951	<ul><li>R->Q at 5: in dbSNP:rs3025980<li>T->P at 195: in dbSNP:rs7602159</ul>									<li>rs3025980</li><li>rs7602159</li>	2
Q8TC71	132671	<ul><li>S->P at 227: in dbSNP:rs3860707<li>K->R at 483: in dbSNP:rs11558773</ul>									<li>rs3860707</li><li>rs11558773</li>	2
Q8TC76	90362	<ul><li>A->S at 214: in a colorectal cancer sample; somatic mutation</ul>										2
Q8TC84	92565	<ul><li>P->L at 12: in dbSNP:rs17153879<li>R->S at 46: in dbSNP:rs17153882<li>L->V at 329: in dbSNP:rs1666<li>C->F at 343: in dbSNP:rs17153976</ul>									<li>rs17153879</li><li>rs17153976</li><li>rs17153882</li><li>rs1666</li>	2
Q8TC90	196477	<ul><li>I->M at 379: in dbSNP:rs17855513</ul>									rs17855513	2
Q8TC92	55068	<ul><li>E->D at 16: in dbSNP:rs7338624</ul>									rs7338624	2
Q8TC94	284382	<ul><li>S->F at 37: in dbSNP:rs2340550<li>A->D at 42: in a colorectal cancer sample; somatic mutation<li>V->A at 51: in dbSNP:rs10410943<li>H->N at 227: in dbSNP:rs4804079<li>A->T at 332: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2340550</li><li>rs4804079</li><li>rs10410943</li>	2
Q8TC99	54752	<ul><li>S->P at 36: in dbSNP:rs1871892<li>A->T at 127: in dbSNP:rs12952106</ul>									<li>rs12952106</li><li>rs1871892</li>	2
Q8TCB6	143503	<ul><li>S->N at 10: in dbSNP:rs17224476</ul>									rs17224476	2
Q8TCC3	51263	<ul><li>A->T at 130: in dbSNP:rs1044575</ul>									rs1044575	2
Q8TCC7	9376	<ul><li>F->L at 129: in dbSNP:rs11568479<li>R->S at 149: complete loss of function; dbSNP:rs45566039<li>I->R at 260: complete loss of function; dbSNP:rs11568493<li>R->W at 277: reduced function; dbSNP:rs11568492<li>V->A at 281: in 6% of African-Americans; dbSNP:rs45438191<li>I->F at 305: in 3.5% of Asian-American; reduced function; dbSNP:rs11568482<li>A->V at 389<li>V->I at 448: in dbSNP:rs11568486</ul>									<li>rs11568482</li><li>rs11568492</li><li>rs11568486</li><li>rs45566039</li><li>rs45438191</li><li>rs11568479</li><li>rs11568493</li>	2
Q8TCD1	497661	<ul><li>P->H at 37: in dbSNP:rs11537626</ul>									rs11537626	2
Q8TCD5	30833	<ul><li>P->L at 68: in dbSNP:rs11541956</ul>									rs11541956	2
Q8TCG1	57650	<ul><li>K->R at 126: in dbSNP:rs7648496<li>R->Q at 229: in dbSNP:rs2278911<li>T->I at 409: in dbSNP:rs9856308<li>T->A at 447: in dbSNP:rs34944683<li>P->L at 494: in dbSNP:rs13083928<li>S->A at 572: in dbSNP:rs34172460<li>R->T at 680: in dbSNP:rs6777766<li>I->V at 759: in dbSNP:rs13071874</ul>									<li>rs2278911</li><li>rs6777766</li><li>rs34944683</li><li>rs9856308</li><li>rs34172460</li><li>rs13083928</li><li>rs7648496</li><li>rs13071874</li>	2
Q8TCG2	55300	<ul><li>S->P at 78: in dbSNP:rs313549</ul>									rs313549	2
Q8TCI5	128344	<ul><li>K->N at 97: in dbSNP:rs15396<li>H->N at 105: in dbSNP:rs2184884</ul>									<li>rs2184884</li><li>rs15396</li>	2
Q8TCJ0	26260	<ul><li>N->D at 36: in dbSNP:rs17665340</ul>									rs17665340	2
Q8TCS8	87178	<ul><li>I->V at 121: in dbSNP:rs782572<li>E->Q at 230: in dbSNP:rs34928857<li>N->D at 590: in dbSNP:rs7594497</ul>									<li>rs782572</li><li>rs34928857</li><li>rs7594497</li>	2
Q8TCT0	64781	<ul><li>I->V at 191: in dbSNP:rs16995615<li>T->M at 211: in dbSNP:rs9306515<li>L->F at 306: in dbSNP:rs13057352</ul>									<li>rs9306515</li><li>rs16995615</li><li>rs13057352</li>	2
Q8TCT8	84888	<ul><li>V->I at 90: in dbSNP:rs8034443</ul>									rs8034443	2
Q8TCT9	81502	<ul><li>A->P at 259: in dbSNP:rs1044419</ul>									rs1044419	2
Q8TCU3	157724	<ul><li>V->M at 249: in dbSNP:rs2976189<li>R->K at 380: in dbSNP:rs4419794<li>M->T at 452: in dbSNP:rs9656982<li>E->K at 470: in dbSNP:rs9693999</ul>									<li>rs2976189</li><li>rs9693999</li><li>rs9656982</li><li>rs4419794</li>	2
Q8TCU4	7840	<ul><li>V->G at 671: in dbSNP:rs2037814<li>S->R at 2111: in dbSNP:rs6724782<li>S->N at 2574: in dbSNP:rs3820700<li>D->H at 2672: in dbSNP:rs2017116</ul>									<li>rs6724782</li><li>rs2037814</li><li>rs2017116</li><li>rs3820700</li>	2
Q8TCU5	116443	<ul><li>V->M at 362: in dbSNP:rs10989591<li>R->H at 480: in dbSNP:rs34755188<li>G->R at 487: in dbSNP:rs10989589<li>D->N at 835: in dbSNP:rs10989563<li>R->Q at 1041: in dbSNP:rs3739722</ul>									<li>rs10989563</li><li>rs10989589</li><li>rs34755188</li><li>rs10989591</li><li>rs3739722</li>	2
Q8TCU6	57580	<ul><li>V->I at 1240: in dbSNP:rs16993997<li>K->E at 1340: in dbSNP:rs2664521<li>S->T at 1559: in dbSNP:rs3936192</ul>									<li>rs3936192</li><li>rs2664521</li><li>rs16993997</li>	2
Q8TCU8		<ul><li>R->H at 6: in dbSNP:rs17152884</ul>									rs17152884	2
Q8TCW7	131368	<ul><li>I->F at 12: in dbSNP:rs6784362<li>N->S at 29: in dbSNP:rs6784389<li>T->A at 197: in dbSNP:rs12054046</ul>									<li>rs12054046</li><li>rs6784362</li><li>rs6784389</li>	2
Q8TCW9	10887	<ul><li>S->G at 40: in dbSNP:rs7570797</ul>									rs7570797	2
Q8TCX1	51626	<ul><li>F->S at 33: in dbSNP:rs2288709<li>P->S at 58: in dbSNP:rs17854966<li>I->L at 230: in dbSNP:rs11556157</ul>									<li>rs11556157</li><li>rs2288709</li><li>rs17854966</li>	2
Q8TCY9	55665	<ul><li>T->A at 697: in dbSNP:rs2232106<li>L->F at 756: in dbSNP:rs2232107<li>M->L at 779: in dbSNP:rs2232108</ul>									<li>rs2232107</li><li>rs2232108</li><li>rs2232106</li>	2
Q8TCZ9	5314	<ul><li>A->V at 17: in ARPKD, MIM: 263200<li>R->H at 19: in a colorectal cancer sample; somatic mutation, MIM: 263200<li>I->V at 25, MIM: 263200<li>T->M at 36: in ARPKD; common mutation: in dbSNP rsrs28939383, MIM: 263200<li>I->V at 222: in ARPKD, MIM: 263200<li>G->S at 223: in ARPKD, MIM: 263200<li>F->L at 253: in ARPKD, MIM: 263200<li>I->T at 307: in ARPKD, MIM: 263200<li>G->V at 326: in ARPKD, MIM: 263200<li>F->L at 372: in ARPKD, MIM: 263200<li>Missing  at 387: in ARPKD, MIM: 263200<li>E->D at 457, MIM: 263200<li>I->S at 473: in ARPKD, MIM: 263200<li>Y->H at 486: in ARPKD, MIM: 263200<li>R->P at 488, MIM: 263200<li>R->P at 496: in ARPKD, MIM: 263200<li>T->M at 579: in dbSNP rsrs45500692, MIM: 263200<li>W->C at 656: in ARPKD, MIM: 263200<li>D->N at 703: in ARPKD, MIM: 263200<li>V->F at 732, MIM: 263200<li>P->L at 739: in ARPKD, MIM: 263200<li>T->M at 752, MIM: 263200<li>I->L at 757: in ARPKD, MIM: 263200<li>R->C at 760: in dbSNP:rs9370096, MIM: 263200<li>R->H at 760: in ARPKD, MIM: 263200<li>R->W at 760: in dbSNP:rs9370096, MIM: 263200<li>P->L at 805: in ARPKD, MIM: 263200<li>N->S at 830, MIM: 263200<li>W->R at 852, MIM: 263200<li>T->P at 899: in ARPKD, MIM: 263200<li>M->K at 997: in ARPKD, MIM: 263200<li>A->E at 1030: in ARPKD, MIM: 263200<li>R->C at 1081: in a colorectal cancer sample; somatic mutation, MIM: 263200<li>L->R at 1096: in a colorectal cancer sample; somatic mutation, MIM: 263200<li>G->S at 1122: in ARPKD, MIM: 263200<li>G->S at 1123: in ARPKD, MIM: 263200<li>Y->C at 1136: in dbSNP rsrs41273726, MIM: 263200<li>A->P at 1150, MIM: 263200<li>C->Y at 1204, MIM: 263200<li>C->W at 1249: in ARPKD, MIM: 263200<li>A->V at 1262: in dbSNP:rs9296669, MIM: 263200<li>S->L at 1283, MIM: 263200<li>P->T at 1389: in ARPKD, MIM: 263200<li>L->R at 1407: in ARPKD, MIM: 263200<li>C->Y at 1472: in ARPKD, MIM: 263200<li>P->L at 1486: in ARPKD, MIM: 263200<li>S->I at 1584: in ARPKD, MIM: 263200<li>R->W at 1624: in ARPKD, MIM: 263200<li>S->F at 1664: in ARPKD: in dbSNP rsrs28937907, MIM: 263200<li>L->F at 1709: in dbSNP rsrs45517932, MIM: 263200<li>V->M at 1741: in ARPKD: in dbSNP rsrs28939099, MIM: 263200<li>T->I at 1781: in ARPKD, MIM: 263200<li>V->L at 1789: in ARPKD, MIM: 263200<li>E->K at 1806: in a colorectal cancer sample; somatic mutation, MIM: 263200<li>S->L at 1833: in ARPKD, MIM: 263200<li>Y->C at 1838: in ARPKD, MIM: 263200<li>S->N at 1867: in ARPKD, MIM: 263200<li>L->V at 1870: in dbSNP:rs2435322, MIM: 263200<li>Q->R at 1917: in ARPKD, MIM: 263200<li>D->G at 1942: in ARPKD, MIM: 263200<li>G->D at 1971: in ARPKD, MIM: 263200<li>E->G at 1995: in ARPKD, MIM: 263200<li>I->T at 1998: in ARPKD, MIM: 263200<li>V->L at 2032: in ARPKD, MIM: 263200<li>L->P at 2134: in ARPKD, MIM: 263200<li>I->F at 2303: in ARPKD, MIM: 263200<li>I->K at 2331: in ARPKD, MIM: 263200<li>C->G at 2422: in ARPKD, MIM: 263200<li>A->G at 2615, MIM: 263200<li>T->A at 2641: in ARPKD; dbSNP:rs7766366, MIM: 263200<li>C->F at 2688: in ARPKD, MIM: 263200<li>D->Y at 2761: in ARPKD, MIM: 263200<li>L->P at 2772: in ARPKD, MIM: 263200<li>S->G at 2861: in ARPKD, MIM: 263200<li>Y->C at 2863: in ARPKD, MIM: 263200<li>T->K at 2869, MIM: 263200<li>T->M at 2938, MIM: 263200<li>I->T at 2957: in ARPKD, MIM: 263200<li>D->G at 2962: in ARPKD, MIM: 263200<li>S->L at 2983: in ARPKD, MIM: 263200<li>S->F at 3018: in ARPKD, MIM: 263200<li>V->G at 3036: in ARPKD, MIM: 263200<li>D->Y at 3052: in dbSNP:rs765526, MIM: 263200<li>A->V at 3072, MIM: 263200<li>I->V at 3081: in ARPKD, MIM: 263200<li>D->N at 3088, MIM: 263200<li>R->P at 3107, MIM: 263200<li>H->Y at 3124: in ARPKD, MIM: 263200<li>D->Y at 3139: in dbSNP rsrs45503297, MIM: 263200<li>R->I at 3143, MIM: 263200<li>I->L at 3167: in ARPKD, MIM: 263200<li>N->D at 3175: in ARPKD, MIM: 263200<li>N->S at 3175: in ARPKD, MIM: 263200<li>I->T at 3177: in ARPKD, MIM: 263200<li>S->I at 3289, MIM: 263200<li>D->V at 3293: in ARPKD, MIM: 263200<li>C->R at 3346: in ARPKD, MIM: 263200<li>V->D at 3440, MIM: 263200<li>I->V at 3468: in ARPKD, MIM: 263200<li>V->G at 3471: in ARPKD, MIM: 263200<li>R->C at 3482: in ARPKD, MIM: 263200<li>E->V at 3502: in ARPKD, MIM: 263200<li>S->R at 3505, MIM: 263200<li>E->Q at 3529: in ARPKD, MIM: 263200<li>E->K at 3551, MIM: 263200<li>I->T at 3553: in ARPKD, MIM: 263200<li>C->Y at 3622: in ARPKD, MIM: 263200<li>P->S at 3783: in ARPKD, MIM: 263200<li>V->I at 3837: in dbSNP:rs9474034, MIM: 263200<li>R->L at 3842, MIM: 263200<li>Q->R at 3899: in dbSNP:rs4715227, MIM: 263200<li>I->N at 3905: in dbSNP:rs2661488, MIM: 263200<li>R->H at 3913: in dbSNP:rs2661487, MIM: 263200<li>V->I at 3960: in dbSNP rsrs34548196, MIM: 263200<li>Q->R at 4048: in dbSNP:rs9381994, MIM: 263200</ul>								Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	<li>rs28937907</li><li>rs765526</li><li>rs28939383</li><li>rs2435322</li><li>rs45500692</li><li>rs41273726</li><li>rs34548196</li><li>rs28939099</li><li>rs7766366</li><li>rs4715227</li><li>rs9381994</li><li>rs45503297</li><li>rs2661487</li><li>rs9370096</li><li>rs9474034</li><li>rs2661488</li><li>rs45517932</li><li>rs9296669</li>	2
Q8TD07	135250	<ul><li>R->H at 12: in dbSNP:rs9383583<li>Y->N at 82: in dbSNP:rs2151910<li>R->H at 128: in dbSNP:rs6925151<li>A->T at 141: in dbSNP:rs9383921<li>T->I at 142: in dbSNP:rs9371533<li>V->L at 237: in dbSNP:rs2342767</ul>									<li>rs9371533</li><li>rs2151910</li><li>rs9383583</li><li>rs6925151</li><li>rs2342767</li><li>rs9383921</li>	2
Q8TD10	145282	<ul><li>Q->L at 141: in dbSNP:rs35870036</ul>									rs35870036	2
Q8TD17	57541	<ul><li>E->D at 87: in dbSNP:rs3801979<li>S->L at 294: in dbSNP:rs2240370</ul>									<li>rs2240370</li><li>rs3801979</li>	2
Q8TD19	91754	<ul><li>R->H at 429: in dbSNP:rs10146482<li>P->T at 828: in dbSNP rsrs36014869<li>P->S at 870: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>									<li>rs10146482</li><li>rs36014869</li>	2
Q8TD26	84181	<ul><li>H->Q at 2161: in dbSNP:rs3817893</ul>									rs3817893	2
Q8TD31	54535	<ul><li>R->Q at 102: in dbSNP:rs130075<li>R->W at 103: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130065<li>R->W at 109: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076<li>S->R at 164: in dbSNP:rs130066<li>L->Q at 179: in dbSNP rsrs11540822<li>E->D at 275: in dbSNP:rs130067<li>A->T at 367: in dbSNP:rs2027937<li>R->Q at 417: in dbSNP:rs130069<li>R->W at 417: in dbSNP:rs130068<li>K->R at 546: in dbSNP:rs2073720<li>G->C at 575: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130079<li>R->Q at 627: in dbSNP:rs130072<li>Q->H at 639: in dbSNP:rs130074<li>A->V at 733<li>S->C at 776: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs1576</ul>							<li>Q8HZ58</li><li>O00421</li><li>Q8HZ59</li><li>Q63185</li><li>Q9BQI3</li><li>Q8HZ57</li><li>P33279</li><li>Q9TSV3</li><li>Q8TD31</li><li>Q8HZ60</li><li>Q9Z2R9</li>		<li>rs2027937</li><li>rs2073720</li><li>rs130072</li><li>rs130066</li><li>rs11540822</li><li>rs130065</li><li>rs130069</li><li>rs130068</li><li>rs130067</li><li>rs130079</li><li>rs130074</li><li>rs130075</li><li>rs1576</li><li>rs130076</li>	2
Q8TD35	198437	<ul><li>G->W at 9: in dbSNP:rs4431000</ul>									rs4431000	2
Q8TD46	131450	<ul><li>R->K at 89: in allele 2; dbSNP:rs2171509<li>P->T at 121: in allele 2; dbSNP:rs4596117<li>Q->H at 177: in allele 2; dbSNP:rs9826308<li>E->Q at 312: in dbSNP:rs9865242</ul>									<li>rs2171509</li><li>rs4596117</li><li>rs9826308</li><li>rs9865242</li>	2
Q8TD55	80301	<ul><li>P->S at 290: in dbSNP:rs2010875</ul>									rs2010875	2
Q8TD57	55567	<ul><li>I->L at 484: in a colorectal cancer sample; somatic mutation<li>R->W at 545: in dbSNP:rs16970910<li>I->M at 1565: in dbSNP:rs330150<li>V->I at 1583: in dbSNP:rs16970832<li>S->F at 1608: in a colorectal cancer sample; somatic mutation<li>T->M at 1752: in dbSNP:rs13332291<li>I->N at 2399: in dbSNP:rs34179606<li>I->V at 2804: in dbSNP:rs12929546<li>K->T at 2949: in dbSNP:rs33928718<li>E->K at 3457: in dbSNP:rs3743695<li>L->I at 3639: in dbSNP:rs34771199<li>R->C at 3645: in dbSNP:rs12924551<li>R->W at 3744: in dbSNP:rs2301620</ul>									<li>rs34771199</li><li>rs33928718</li><li>rs13332291</li><li>rs12924551</li><li>rs12929546</li><li>rs2301620</li><li>rs3743695</li><li>rs34179606</li><li>rs16970832</li><li>rs330150</li><li>rs16970910</li>	2
Q8TD84	57453	<ul><li>V->I at 659: in a colorectal cancer sample; somatic mutation<li>V->I at 1702: in a colorectal cancer sample; somatic mutation</ul>										2
Q8TD86	163688	<ul><li>W->R at 60: in dbSNP:rs28581776</ul>									rs28581776	2
Q8TD90	139599	<ul><li>G->C at 291: in dbSNP:rs12688600</ul>									rs12688600	2
Q8TD91	139081	<ul><li>L->M at 165: in dbSNP:rs11095910<li>A->T at 307: in dbSNP:rs176024<li>A->T at 328: in dbSNP:rs176026</ul>									<li>rs11095910</li><li>rs176026</li><li>rs176024</li>	2
Q8TD94	136259	<ul><li>A->P at 173: in dbSNP:rs35770036</ul>									rs35770036	2
Q8TDB4	84709	<ul><li>A->T at 128: in dbSNP:rs3208941</ul>									rs3208941	2
Q8TDB6	151636	<ul><li>K->N at 209: in a breast cancer sample; somatic mutation<li>R->K at 425: in dbSNP:rs2332285<li>K->M at 668: in dbSNP:rs9868175</ul>									<li>rs2332285</li><li>rs9868175</li>	2
Q8TDC3	84446	<ul><li>R->W at 319: in a gastric adenocarcinoma sample; somatic mutation<li>V->I at 335: in a lung large cell carcinoma sample; somatic mutation<li>G->E at 407: in a metastatic melanoma sample; somatic mutation<li>T->N at 547<li>G->S at 765<li>P->A at 780</ul>										2
Q8TDD1	79039	<ul><li>R->H at 570: in dbSNP:rs35519289<li>R->Q at 693: in dbSNP:rs11564<li>V->A at 712: in dbSNP:rs10354<li>P->L at 821: in dbSNP:rs1048889</ul>									<li>rs35519289</li><li>rs1048889</li><li>rs10354</li><li>rs11564</li>	2
Q8TDE3	122665	<ul><li>P->S at 10: in dbSNP:rs12437266</ul>									rs12437266	2
Q8TDF5	81832	<ul><li>N->S at 481: in dbSNP:rs922999<li>A->G at 487: in dbSNP:rs17086286</ul>									<li>rs922999</li><li>rs17086286</li>	2
Q8TDF6	115727	<ul><li>T->I at 18: in dbSNP:rs892055<li>Q->L at 120<li>V->A at 145<li>R->C at 261<li>R->G at 335</ul>									rs892055	2
Q8TDG4	113510	<ul><li>D->N at 565: in a breast cancer sample; somatic mutation</ul>										2
Q8TDI0	26038	<ul><li>V->M at 45: in a breast cancer sample; somatic mutation<li>D->N at 119: in a breast cancer sample; somatic mutation<li>R->G at 667: in a breast cancer sample; somatic mutation<li>S->I at 1253: in dbSNP:rs6657997<li>S->P at 1539: in dbSNP:rs2843493</ul>									<li>rs6657997</li><li>rs2843493</li>	2
Q8TDI7	117532	<ul><li>K->R at 123: in dbSNP:rs6050063<li>S->C at 573: in dbSNP:rs16987592<li>E->Q at 800: in dbSNP:rs6115242</ul>									<li>rs6050063</li><li>rs16987592</li><li>rs6115242</li>	2
Q8TDI8	117531	<ul><li>E->K at 81: in dbSNP:rs1796993<li>R->W at 141: in dbSNP:rs11143384<li>M->T at 486: in dbSNP:rs17058153<li>D->N at 572: in DFNA36, MIM: 606705<li>M->V at 654: in DFNB7, MIM: 600974</ul>								<li>Non-syndromic sensorineural deafness autosomal dominant type 36 (DFNA36) [MIM:606705]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 7 (DFNB7) [MIM:600974]</li>	<li>rs11143384</li><li>rs17058153</li><li>rs1796993</li>	2
Q8TDL5	92747	<ul><li>I->V at 84: in dbSNP:rs1078761<li>T->A at 140: in dbSNP:rs34578060<li>V->M at 284: in dbSNP:rs6141383<li>D->H at 287: in dbSNP:rs34548457<li>S->P at 298: in dbSNP:rs6120221<li>S->I at 313: in dbSNP:rs6120222<li>T->S at 464: in dbSNP:rs17856249<li>S->T at 479: in dbSNP:rs1999663</ul>									<li>rs34578060</li><li>rs1078761</li><li>rs6120222</li><li>rs6120221</li><li>rs1999663</li><li>rs6141383</li><li>rs34548457</li><li>rs17856249</li>	2
Q8TDM0	55653	<ul><li>E->D at 56: in dbSNP:rs2272962</ul>									rs2272962	2
Q8TDM6	9231	<ul><li>Q->R at 140: in dbSNP:rs1248696<li>P->Q at 1481: in dbSNP:rs2289310<li>A->V at 1600: in dbSNP:rs4979794</ul>									<li>rs4979794</li><li>rs1248696</li><li>rs2289310</li>	2
Q8TDN1	93107	<ul><li>G->W at 8: in dbSNP:rs35379218<li>R->W at 206: in dbSNP:rs11646443<li>C->Y at 255: in dbSNP:rs17736370<li>E->K at 321: in dbSNP:rs4782905<li>G->R at 325: in dbSNP:rs7196482<li>R->H at 427: in dbSNP:rs35649980</ul>									<li>rs35649980</li><li>rs4782905</li><li>rs35379218</li><li>rs7196482</li><li>rs11646443</li><li>rs17736370</li>	2
Q8TDN2	169522	<ul><li>L->Q at 126: in RCD3B, MIM: 610356<li>W->C at 188: in RCD3B, MIM: 610356<li>S->W at 256: in RCD3B, MIM: 610356<li>A->V at 259: in RCD3B, MIM: 610356<li>Missing  at 339-341: in RCD3B, MIM: 610356<li>G->D at 459: in RCD3B, MIM: 610356<li>L->V at 533: in dbSNP:rs12352254, MIM: 610356</ul>								Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	rs12352254	2
Q8TDP1	84153	<ul><li>R->W at 69: in AGS3, MIM: 610329<li>K->I at 143: in AGS3, MIM: 610329</ul>							<li>Q8TDP1</li><li>Q86YR5</li>	Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329]		2
Q8TDQ0	84868	<ul><li>L->R at 140: in dbSNP:rs1036199</ul>									rs1036199	2
Q8TDQ1	146722	<ul><li>A->V at 19: in dbSNP:rs35489971<li>R->Q at 218: in dbSNP:rs2034310</ul>									<li>rs2034310</li><li>rs35489971</li>	2
Q8TDQ7	132789	<ul><li>P->S at 182: in dbSNP:rs17851302</ul>									rs17851302	2
Q8TDR0	26146	<ul><li>N->S at 228: in dbSNP:rs3769110<li>R->W at 239: in dbSNP:rs34723381<li>K->N at 295: in dbSNP:rs12464423<li>M->L at 620: in dbSNP:rs3739070</ul>									<li>rs12464423</li><li>rs34723381</li><li>rs3739070</li><li>rs3769110</li>	2
Q8TDR4	140290	<ul><li>H->R at 145: in dbSNP:rs9622<li>R->H at 194: in dbSNP:rs16989521</ul>									<li>rs9622</li><li>rs16989521</li>	2
Q8TDS4	338442	<ul><li>Q->R at 187: in dbSNP:rs676770<li>F->L at 198: in dbSNP:rs676823<li>R->C at 311: in dbSNP:rs7314976<li>M->I at 317: in dbSNP rsrs28682471</ul>									<li>rs676823</li><li>rs676770</li><li>rs28682471</li><li>rs7314976</li>	2
Q8TDS5	165140	<ul><li>M->L at 316: in dbSNP:rs17029947<li>L->V at 407: in dbSNP:rs2278586</ul>									<li>rs2278586</li><li>rs17029947</li>	2
Q8TDU9	339403	<ul><li>L->S at 329: in dbSNP:rs2152051</ul>									rs2152051	2
Q8TDV0	134391	<ul><li>P->L at 40: in dbSNP:rs17104742<li>A->V at 144: in dbSNP:rs7713676<li>L->V at 261: in dbSNP:rs7709485</ul>									<li>rs17104742</li><li>rs7709485</li><li>rs7713676</li>	2
Q8TDV2	344561	<ul><li>P->T at 317: in dbSNP:rs272128</ul>									rs272128	2
Q8TDV5	139760	<ul><li>S->L at 309: in dbSNP:rs5975187</ul>									rs5975187	2
Q8TDW0	84230	<ul><li>G->D at 205: in dbSNP:rs474536<li>N->S at 468: in dbSNP:rs12032393<li>M->I at 800: in dbSNP:rs12036569</ul>									<li>rs12032393</li><li>rs12036569</li><li>rs474536</li>	2
Q8TDW4	54879	<ul><li>R->Q at 451: in dbSNP:rs6658555<li>A->T at 455: in dbSNP:rs3736764<li>G->D at 571: in dbSNP:rs12069022</ul>									<li>rs3736764</li><li>rs6658555</li><li>rs12069022</li>	2
Q8TDW5	94122	<ul><li>I->V at 275: in dbSNP:rs4827331</ul>									rs4827331	2
Q8TDW7	120114	<ul><li>S->F at 412: in dbSNP:rs10830902<li>I->V at 462: in dbSNP:rs16917409<li>V->G at 1167: in dbSNP:rs11821058<li>Q->R at 1726: in dbSNP:rs7949157<li>N->S at 2293: in dbSNP:rs16918105<li>V->F at 2622: in dbSNP:rs17615477<li>I->V at 2755: in dbSNP:rs3847531<li>V->L at 3518: in dbSNP:rs10765565<li>S->G at 3812: in dbSNP:rs4753069</ul>									<li>rs10765565</li><li>rs4753069</li><li>rs11821058</li><li>rs17615477</li><li>rs3847531</li><li>rs10830902</li><li>rs16917409</li><li>rs7949157</li><li>rs16918105</li>	2
Q8TDX7	140609	<ul><li>R->G at 35: in dbSNP rsrs55833332<li>I->M at 275: in an ovarian serous carcinoma sample; somatic mutation</ul>									rs55833332	2
Q8TDX9	168507	<ul><li>V->F at 312: in dbSNP:rs2686817<li>D->N at 812: in dbSNP:rs17131915<li>T->A at 879: in dbSNP:rs11972142<li>R->P at 1053: in dbSNP:rs10274334<li>K->E at 1272: in dbSNP:rs1470859<li>E->K at 2410: in dbSNP:rs2290386<li>A->T at 2685: in dbSNP:rs13231277</ul>									<li>rs11972142</li><li>rs10274334</li><li>rs13231277</li><li>rs2290386</li><li>rs17131915</li><li>rs2686817</li><li>rs1470859</li>	2
Q8TDY2	9821	<ul><li>M->T at 234: in dbSNP:rs17337252<li>P->L at 708: in dbSNP:rs34016926<li>R->K at 1216: in dbSNP:rs35534432<li>N->K at 1314: in dbSNP:rs34701924<li>S->F at 1424: in dbSNP:rs35342973<li>R->C at 1514: in a breast cancer sample; somatic mutation</ul>									<li>rs35534432</li><li>rs34701924</li><li>rs35342973</li><li>rs34016926</li><li>rs17337252</li>	2
Q8TDY3	140625	<ul><li>G->R at 247: in dbSNP:rs3795263</ul>									rs3795263	2
Q8TDY4	55616	<ul><li>E->A at 377: in dbSNP:rs16828486<li>A->T at 617: in a colorectal cancer sample; somatic mutation</ul>									rs16828486	2
Q8TDY8	57722	<ul><li>A->P at 52: in dbSNP:rs34355056<li>N->S at 301: in dbSNP:rs12442757<li>T->A at 1102: in dbSNP:rs33918653<li>C->Y at 1125: in dbSNP:rs33918653</ul>									<li>rs33918653</li><li>rs34355056</li><li>rs12442757</li>	2
Q8TDZ2	64780	<ul><li>A->T at 12: in dbSNP:rs4946977<li>D->A at 153: in dbSNP:rs34726911<li>L->M at 309: in a breast cancer sample; somatic mutation<li>A->E at 758: in dbSNP:rs9320288</ul>									<li>rs9320288</li><li>rs34726911</li><li>rs4946977</li>	2
Q8TE02	23587	<ul><li>E->K at 14: in dbSNP:rs2521988<li>D->Y at 303: in dbSNP:rs17849664</ul>									<li>rs2521988</li><li>rs17849664</li>	2
Q8TE23	80834	<ul><li>S->C at 9: in dbSNP:rs9701796<li>A->T at 574: in dbSNP:rs6662276<li>R->K at 838: in dbSNP:rs9988418</ul>									<li>rs6662276</li><li>rs9701796</li><li>rs9988418</li>	2
Q8TE54	115111	<ul><li>I->V at 215: in dbSNP:rs16912250<li>V->G at 381: in dbSNP:rs34921316</ul>									<li>rs16912250</li><li>rs34921316</li>	2
Q8TE58	170689	<ul><li>N->S at 623: in dbSNP:rs11222114<li>Q->R at 770: in a colorectal cancer sample; somatic mutation<li>C->G at 878: in a colorectal cancer sample; somatic mutation</ul>									rs11222114	2
Q8TE59	171019	<ul><li>L->I at 360: in a breast cancer sample; somatic mutation<li>Y->F at 1089: in dbSNP:rs11749126</ul>									rs11749126	2
Q8TE60	170692	<ul><li>R->K at 382: in a colorectal cancer sample; somatic mutation<li>K->T at 455: in a colorectal cancer sample; somatic mutation</ul>										2
Q8TE67	79574	<ul><li>M->I at 35: in dbSNP:rs17598321<li>G->S at 163: in dbSNP:rs6693815<li>H->Y at 293: in dbSNP:rs3818562<li>P->S at 356: in dbSNP:rs11102001<li>R->Q at 581: in dbSNP:rs35072794</ul>									<li>rs3818562</li><li>rs11102001</li><li>rs17598321</li><li>rs35072794</li><li>rs6693815</li>	2
Q8TE73	1767	<ul><li>H->Q at 12: in dbSNP:rs339445<li>G->E at 24: in dbSNP:rs1530496<li>T->A at 558: in dbSNP:rs1530498<li>L->R at 591: in dbSNP:rs35090077<li>L->V at 591: in dbSNP:rs35090077<li>Q->K at 620: in dbSNP:rs34076967<li>K->N at 765: in dbSNP:rs4701997<li>I->L at 766: in dbSNP:rs4701997<li>S->G at 1006: in dbSNP:rs16902886<li>M->V at 1081: in dbSNP:rs16902880<li>R->L at 1716: in CILD3, MIM: 608644<li>S->N at 2264: in CILD3, MIM: 608644<li>E->K at 2347: in CILD3, MIM: 608644<li>R->H at 2425: in dbSNP:rs35900306, MIM: 608644<li>Q->R at 2463: in dbSNP:rs10078391, MIM: 608644<li>R->P at 2501: in CILD3, MIM: 608644<li>F->S at 2843: in CILD3, MIM: 608644<li>L->F at 2862: in dbSNP:rs10513155, MIM: 608644<li>W->S at 3409: in CILD3, MIM: 608644<li>G->R at 3519: in KTGS, MIM: 244400<li>T->I at 3791: in dbSNP:rs17263496, MIM: 244400<li>S->L at 3843: in CILD3, MIM: 608644<li>A->V at 4134: in dbSNP:rs30168, MIM: 608644<li>G->V at 4205: in CILD3, MIM: 608644<li>T->A at 4220: in dbSNP:rs2277046, MIM: 608644<li>I->V at 4450: in dbSNP:rs3734110, MIM: 608644</ul>								<li>Kartagener syndrome (KTGS) [MIM:244400]</li><li>Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]</li>	<li>rs3734110</li><li>rs4701997</li><li>rs34076967</li><li>rs1530498</li><li>rs17263496</li><li>rs10078391</li><li>rs1530496</li><li>rs35900306</li><li>rs35090077</li><li>rs339445</li><li>rs30168</li><li>rs2277046</li><li>rs16902886</li><li>rs10513155</li><li>rs16902880</li>	2
Q8TE76	79710	<ul><li>T->I at 473: in dbSNP:rs6622126<li>R->C at 653: in dbSNP:rs3827464</ul>									<li>rs6622126</li><li>rs3827464</li>	2
Q8TE82	54436	<ul><li>D->N at 291: in dbSNP:rs1281138<li>P->L at 437: in dbSNP:rs1281145<li>R->H at 719: in a colorectal cancer sample; somatic mutation<li>R->C at 785: in dbSNP:rs1281149<li>A->T at 1130: in a colorectal cancer sample; somatic mutation</ul>									<li>rs1281149</li><li>rs1281138</li><li>rs1281145</li>	2
Q8TE85	57822	<ul><li>D->E at 55: in dbSNP:rs2486668</ul>									rs2486668	2
Q8TEA7	93627	<ul><li>R->L at 66: in dbSNP rsrs35784409<li>I->M at 151<li>D->N at 265<li>Q->E at 266: in dbSNP:rs3775091<li>T->M at 425<li>M->I at 471<li>K->N at 489: in dbSNP:rs2305685<li>R->I at 503: in a colorectal adenocarcinoma sample; somatic mutation<li>R->C at 692<li>I->V at 806: in a head & Neck squamous cell carcinoma sample; somatic mutation</ul>									<li>rs35784409</li><li>rs3775091</li><li>rs2305685</li>	2
Q8TEB1	80344	<ul><li>R->H at 207: in dbSNP:rs3825584</ul>									rs3825584	2
Q8TEB9	84236	<ul><li>A->T at 110: in dbSNP:rs35731955</ul>									rs35731955	2
Q8TEC5	153769	<ul><li>F->S at 16: in dbSNP:rs34739859<li>F->V at 174: in dbSNP:rs34942619<li>C->R at 267: in dbSNP:rs758037<li>R->Q at 477: in dbSNP:rs35165046<li>R->W at 592: in dbSNP:rs2962525<li>V->I at 687: in dbSNP:rs11435<li>A->G at 710: in dbSNP:rs1056149</ul>									<li>rs35165046</li><li>rs758037</li><li>rs1056149</li><li>rs11435</li><li>rs34942619</li><li>rs2962525</li><li>rs34739859</li>	2
Q8TED4	219855	<ul><li>G->S at 268: in dbSNP:rs34485243</ul>									rs34485243	2
Q8TEE6		<ul><li>R->C at 68: in dbSNP:rs12574381<li>K->N at 606: in dbSNP:rs16915277<li>F->L at 755: in dbSNP:rs11825154</ul>									<li>rs11825154</li><li>rs12574381</li><li>rs16915277</li>	2
Q8TEK3	84444	<ul><li>L->M at 726: in dbSNP:rs880525<li>G->S at 1386: in dbSNP:rs3815308<li>V->L at 1418: in dbSNP:rs2302061</ul>									<li>rs2302061</li><li>rs880525</li><li>rs3815308</li>	2
Q8TEM1	23225	<ul><li>A->T at 297: in dbSNP:rs7628051<li>I->V at 608: in dbSNP:rs3732671<li>A->V at 755: in dbSNP:rs6795271<li>R->L at 786: in dbSNP:rs2280084<li>P->A at 821: in dbSNP:rs2280085<li>A->P at 944: in dbSNP:rs433032<li>M->I at 1096: in dbSNP:rs2271505<li>D->E at 1430: in dbSNP:rs13081937<li>L->S at 1752: in dbSNP:rs354479<li>V->M at 1787: in dbSNP:rs354478</ul>									<li>rs13081937</li><li>rs7628051</li><li>rs433032</li><li>rs3732671</li><li>rs2271505</li><li>rs6795271</li><li>rs2280084</li><li>rs354479</li><li>rs2280085</li><li>rs354478</li>	2
Q8TEP8	55125	<ul><li>T->A at 457: in dbSNP:rs10048340<li>Q->P at 513: in dbSNP:rs11080623<li>V->M at 769: in dbSNP:rs2282542<li>R->H at 948: in dbSNP:rs7228940<li>S->P at 956: in dbSNP:rs578208<li>L->F at 1105: in dbSNP:rs6505780<li>S->N at 1455: in dbSNP:rs2027698<li>L->P at 1525: in dbSNP:rs474337<li>K->E at 1675: in dbSNP:rs3737379<li>R->L at 1853: in dbSNP:rs1786263</ul>									<li>rs3737379</li><li>rs474337</li><li>rs578208</li><li>rs7228940</li><li>rs2282542</li><li>rs11080623</li><li>rs10048340</li><li>rs1786263</li><li>rs2027698</li><li>rs6505780</li>	2
Q8TEQ6	25929	<ul><li>Q->R at 682: in dbSNP:rs1974777</ul>									rs1974777	2
Q8TEQ8	84720	<ul><li>L->M at 686: in a colorectal cancer sample; somatic mutation</ul>										2
Q8TER0	25992	<ul><li>L->P at 1228: in dbSNP:rs17440466<li>R->Q at 1289: in dbSNP:rs6721345<li>H->R at 1299: in dbSNP:rs6708120<li>A->S at 1362: in dbSNP:rs2108485</ul>									<li>rs6721345</li><li>rs17440466</li><li>rs6708120</li><li>rs2108485</li>	2
Q8TER5	55701	<ul><li>L->V at 956: in dbSNP:rs7143633<li>S->L at 1189: in dbSNP:rs1958396<li>M->T at 1312: in dbSNP:rs943992</ul>									<li>rs943992</li><li>rs1958396</li><li>rs7143633</li>	2
Q8TES7		<ul><li>G->V at 65: in dbSNP:rs1135889<li>R->G at 151: in dbSNP:rs2305913<li>P->S at 371: in dbSNP:rs7218738<li>C->S at 574: in dbSNP:rs7213548</ul>									<li>rs7213548</li><li>rs7218738</li><li>rs2305913</li><li>rs1135889</li>	2
Q8TET4	2595	<ul><li>V->L at 11: in dbSNP:rs8043515<li>R->Q at 44: in dbSNP:rs8024732<li>I->M at 153<li>D->E at 443: in dbSNP:rs2578652<li>F->S at 845: in dbSNP:rs7181742<li>Q->R at 848: in dbSNP:rs7180279</ul>									<li>rs8043515</li><li>rs7181742</li><li>rs8024732</li><li>rs2578652</li><li>rs7180279</li>	2
Q8TEU8	124857	<ul><li>V->M at 96: in dbSNP:rs35300894</ul>									rs35300894	2
Q8TEV9	140775	<ul><li>P->L at 524: in dbSNP:rs8080966<li>R->H at 556: in dbSNP:rs1563632<li>N->S at 636: in dbSNP:rs12449313</ul>									<li>rs12449313</li><li>rs8080966</li><li>rs1563632</li>	2
Q8TEW0	56288	<ul><li>E->D at 107: in dbSNP:rs1436731<li>D->N at 575: in dbSNP:rs3758459</ul>									<li>rs1436731</li><li>rs3758459</li>	2
Q8TEW8	117583	<ul><li>L->P at 165: in dbSNP:rs1510765<li>R->K at 192: in dbSNP:rs2289025<li>Q->K at 295: in dbSNP:rs1061522</ul>									<li>rs1061522</li><li>rs2289025</li><li>rs1510765</li>	2
Q8TEX9	79711	<ul><li>A->V at 513: in dbSNP:rs7146310<li>P->A at 580: in dbSNP:rs11550452</ul>									<li>rs11550452</li><li>rs7146310</li>	2
Q8TEY5	148327	<ul><li>P->S at 95: in dbSNP:rs11264743</ul>									rs11264743	2
Q8TF05	9989	<ul><li>E->K at 43: in dbSNP:rs1056191<li>I->V at 470: in dbSNP:rs329003<li>S->N at 593: in dbSNP:rs2306134<li>S->N at 595: in dbSNP:rs2306134</ul>									<li>rs2306134</li><li>rs329003</li><li>rs1056191</li>	2
Q8TF08	170712	<ul><li>H->Q at 27</ul>										2
Q8TF09	83657	<ul><li>H->R at 14: in dbSNP:rs13332289</ul>									rs13332289	2
Q8TF17	79628	<ul><li>G->E at 171: in dbSNP:rs17722293<li>A->S at 468: in dbSNP:rs6875902<li>R->Q at 529: in CMT4C; homozygous in 2 unrelated Turkish patients; also found in 1 of 320 Turkish control chromosomes, MIM: 601596<li>E->K at 657: in CMT4C; homozygous in a Turkish patient, MIM: 601596<li>R->C at 658: in CMT4C; heterozygous in one German patient with affected sibling, MIM: 601596<li>H->R at 696: in dbSNP:rs17109261, MIM: 601596</ul>					chromosomes	GO:0005694		Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]	<li>rs6875902</li><li>rs17722293</li><li>rs17109261</li>	2
Q8TF21	170961	<ul><li>A->T at 111: in dbSNP:rs2052191<li>R->Q at 349: in dbSNP:rs12978469<li>E->K at 585: in dbSNP:rs10413818<li>S->A at 684: in dbSNP:rs353693</ul>									<li>rs10413818</li><li>rs12978469</li><li>rs353693</li><li>rs2052191</li>	2
Q8TF27	119385	<ul><li>I->V at 82: in dbSNP:rs2641563</ul>									rs2641563	2
Q8TF30	123720	<ul><li>Q->K at 340: in dbSNP:rs1055666<li>R->Q at 345: in dbSNP:rs1055667<li>R->H at 686: in dbSNP:rs3814281<li>H->P at 736: in dbSNP:rs11259953<li>H->Q at 736: in dbSNP:rs11259954</ul>									<li>rs3814281</li><li>rs11259953</li><li>rs1055666</li><li>rs11259954</li><li>rs1055667</li>	2
Q8TF32	170959	<ul><li>D->G at 3: in dbSNP:rs17445374</ul>									rs17445374	2
Q8TF40	96459	<ul><li>C->G at 76: in dbSNP:rs7730228<li>S->L at 354: in dbSNP:rs13177318<li>Q->R at 648: in dbSNP:rs26008<li>V->L at 738: in dbSNP:rs12109782<li>I->V at 844: in dbSNP:rs7717874</ul>									<li>rs26008</li><li>rs13177318</li><li>rs7730228</li><li>rs7717874</li><li>rs12109782</li>	2
Q8TF42	84959	<ul><li>A->T at 68: in dbSNP:rs12790613</ul>									rs12790613	2
Q8TF46	115752	<ul><li>I->V at 518: in dbSNP:rs34668776<li>D->G at 614: in dbSNP:rs3803412<li>N->S at 747: in dbSNP:rs17258507</ul>									<li>rs34668776</li><li>rs3803412</li><li>rs17258507</li>	2
Q8TF50	116115	<ul><li>V->A at 94: in dbSNP:rs3810151<li>S->F at 511: in dbSNP:rs17850994</ul>									<li>rs3810151</li><li>rs17850994</li>	2
Q8TF62	79895	<ul><li>N->S at 225: in dbSNP:rs16963151<li>H->N at 452: in dbSNP:rs2452524<li>N->K at 1165: in dbSNP:rs16962989<li>V->G at 1190: in dbSNP:rs16962987</ul>									<li>rs16962989</li><li>rs16963151</li><li>rs16962987</li><li>rs2452524</li>	2
Q8TF63	140947	<ul><li>T->P at 75: in dbSNP:rs1031844<li>N->D at 97: in dbSNP:rs12520809</ul>									<li>rs12520809</li><li>rs1031844</li>	2
Q8TF65	54810	<ul><li>S->F at 61: in dbSNP:rs17101180<li>L->P at 206: in dbSNP:rs540742</ul>									<li>rs17101180</li><li>rs540742</li>	2
Q8TF66	131578	<ul><li>I->V at 264: in dbSNP:rs13060627<li>L->P at 286: in dbSNP:rs13070515</ul>									<li>rs13060627</li><li>rs13070515</li>	2
Q8TF71	117247	<ul><li>K->Q at 508: in dbSNP:rs17072442</ul>									rs17072442	2
Q8TF72	57619	<ul><li>L->H at 146: in dbSNP:rs3821979<li>A->G at 278: in dbSNP:rs344140<li>A->P at 468: in dbSNP:rs344141<li>L->P at 1289: in dbSNP:rs3733242</ul>									<li>rs344140</li><li>rs344141</li><li>rs3733242</li><li>rs3821979</li>	2
Q8TF76		<ul><li>V->E at 76<li>C->R at 82<li>R->H at 145<li>D->G at 204: in dbSNP:rs220462<li>G->S at 283<li>Q->L at 301<li>T->I at 328: in dbSNP:rs220461<li>A->V at 378: in dbSNP:rs3809806<li>N->D at 422: in dbSNP:rs7223226<li>M->V at 706</ul>									<li>rs220461</li><li>rs220462</li><li>rs7223226</li><li>rs3809806</li>	2
Q8WTP8	64782	<ul><li>P->L at 15: in dbSNP:rs3743477<li>S->C at 88: in dbSNP:rs8026929<li>D->N at 140: in dbSNP:rs8027765</ul>									<li>rs8026929</li><li>rs3743477</li><li>rs8027765</li>	2
Q8WTQ1	140596	<ul><li>I->V at 10: in dbSNP:rs2680507</ul>									rs2680507	2
Q8WTQ4	123970	<ul><li>R->Q at 152: in dbSNP:rs16947350</ul>									rs16947350	2
Q8WTQ7	131890	<ul><li>R->H at 81: in dbSNP:rs34429284<li>C->W at 113: in dbSNP rsrs56070798<li>S->C at 115: in dbSNP rsrs34769632<li>S->T at 127: in dbSNP rsrs35318124<li>V->G at 196: in dbSNP rsrs55707760<li>V->M at 196: in dbSNP rsrs56019094<li>R->W at 226: in dbSNP:rs35566288<li>S->F at 253: in a metastatic melanoma sample; somatic mutation<li>E->Q at 309: in dbSNP rsrs55824414<li>V->I at 313: in dbSNP rsrs56076641<li>E->G at 443: in dbSNP rsrs36009541<li>P->T at 460: in dbSNP:rs33928105<li>R->C at 461: in dbSNP:rs36004830</ul>									<li>rs35318124</li><li>rs36004830</li><li>rs33928105</li><li>rs55707760</li><li>rs55824414</li><li>rs36009541</li><li>rs34429284</li><li>rs56019094</li><li>rs56076641</li><li>rs34769632</li><li>rs35566288</li><li>rs56070798</li>	2
Q8WTR2	142679	<ul><li>S->R at 216: in dbSNP:rs16823987</ul>									rs16823987	2
Q8WTR4	81544	<ul><li>A->T at 480: in dbSNP:rs571353</ul>									rs571353	2
Q8WTR7	25888	<ul><li>S->G at 59: in dbSNP:rs10419876<li>S->G at 74: in dbSNP:rs10419911<li>T->M at 164: in dbSNP:rs16981705<li>E->G at 309: in dbSNP:rs16981706<li>T->I at 654: in dbSNP:rs10424809<li>S->A at 662: in dbSNP:rs10426374</ul>									<li>rs10419911</li><li>rs10424809</li><li>rs16981706</li><li>rs10426374</li><li>rs16981705</li><li>rs10419876</li>	2
Q8WTS1	51099	<ul><li>E->K at 7: in CDS, MIM: 275630<li>I->T at 72: in dbSNP:rs2302349, MIM: 275630<li>Q->P at 130: in CDS; dbSNP:rs28939077, MIM: 275630<li>E->K at 260: in CDS: in dbSNP rsrs28939078, MIM: 275630</ul>							<li>Q99UL1</li><li>Q92903</li><li>P0ABG3</li><li>Q8G0E0</li><li>P0ABG2</li><li>Q6G9V2</li><li>P0ABG1</li><li>O04928</li><li>Q4L5W3</li><li>Q59640</li><li>P73548</li><li>Q2YRP9</li><li>O67292</li><li>Q9X1B7</li><li>Q7A5Y4</li><li>P75160</li><li>Q49433</li><li>Q5HGH0</li><li>Q9Z7Y6</li><li>O04940</li><li>P0C102</li><li>P63758</li><li>P63759</li><li>O84457</li><li>Q8CST9</li><li>O25004</li><li>Q9ZDA8</li><li>Q7A121</li><li>Q6GHH4</li><li>Q9ZML7</li><li>Q9PJU1</li><li>Q9CBU1</li><li>P38221</li><li>Q49X46</li><li>Q95ZE3</li><li>P56079</li><li>P44937</li><li>Q8YHH2</li><li>O31752</li><li>Q5HPT0</li>	Chanarin-Dorfman syndrome (CDS) [MIM:275630]	<li>rs28939077</li><li>rs2302349</li><li>rs28939078</li>	2
Q8WTT2	64318	<ul><li>P->L at 194: in dbSNP:rs12572897<li>P->R at 444: in dbSNP:rs11187895<li>E->A at 472: in dbSNP:rs3758526<li>R->I at 504: in dbSNP:rs11187892<li>T->S at 655: in dbSNP:rs12259382<li>A->T at 695: in dbSNP:rs17517578</ul>									<li>rs11187892</li><li>rs3758526</li><li>rs12572897</li><li>rs17517578</li><li>rs12259382</li><li>rs11187895</li>	2
Q8WTU0	414301	<ul><li>G->S at 136: in dbSNP:rs7102675<li>S->G at 142: in dbSNP:rs17856633<li>G->E at 239: in dbSNP:rs17851870</ul>									<li>rs17851870</li><li>rs7102675</li><li>rs17856633</li>	2
Q8WTU2	136853	<ul><li>R->H at 128: in dbSNP:rs4728712</ul>									rs4728712	2
Q8WTV0	949	<ul><li>G->S at 2: in dbSNP:rs4238001<li>V->I at 135: in dbSNP rsrs5891<li>G->S at 167<li>S->G at 229: in dbSNP:rs10396213<li>C->R at 511: in dbSNP:rs2293440</ul>									<li>rs5891</li><li>rs4238001</li><li>rs2293440</li><li>rs10396213</li>	2
Q8WTW3	9382	<ul><li>N->S at 392: in dbSNP:rs1026128<li>Y->C at 744: in dbSNP:rs7208207</ul>									<li>rs1026128</li><li>rs7208207</li>	2
Q8WTX9	29800	<ul><li>R->Q at 124: in dbSNP:rs34229857</ul>									rs34229857	2
Q8WU03	219970	<ul><li>P->S at 82: in dbSNP:rs17856514<li>E->K at 160: in dbSNP:rs11229651<li>L->I at 168: in dbSNP:rs17851433</ul>									<li>rs17856514</li><li>rs11229651</li><li>rs17851433</li>	2
Q8WU08	202374	<ul><li>K->M at 58: in dbSNP rsrs35852718<li>S->F at 89: in a metastatic melanoma sample; somatic mutation<li>M->I at 316: in a lung neuroendocrine carcinoma sample; somatic mutation</ul>									rs35852718	2
Q8WU20	10818	<ul><li>K->N at 303: in dbSNP:rs12580717<li>N->D at 449: in dbSNP:rs35232109</ul>									<li>rs12580717</li><li>rs35232109</li>	2
Q8WU58	55731	<ul><li>L->S at 471: in dbSNP:rs2043031<li>G->S at 542: in dbSNP:rs36029715</ul>									<li>rs2043031</li><li>rs36029715</li>	2
Q8WU66	54084	<ul><li>A->T at 166: in a colorectal cancer sample; somatic mutation</ul>										2
Q8WU67	171586	<ul><li>R->C at 3: in dbSNP:rs17851878</ul>									rs17851878	2
Q8WU76	152579	<ul><li>L->S at 512: in dbSNP:rs7675987</ul>									rs7675987	2
Q8WU79	64744	<ul><li>A->T at 289: in dbSNP:rs34845213</ul>									rs34845213	2
Q8WU90	55854	<ul><li>V->E at 342: in dbSNP:rs11555006<li>T->P at 408: in dbSNP:rs1043497</ul>									<li>rs1043497</li><li>rs11555006</li>	2
Q8WUA8	25987	<ul><li>R->C at 208: in dbSNP:rs3740772<li>S->N at 248: in dbSNP:rs11236938<li>V->I at 308: in dbSNP:rs3740771<li>D->E at 344: in dbSNP:rs1149621</ul>									<li>rs11236938</li><li>rs3740772</li><li>rs3740771</li><li>rs1149621</li>	2
Q8WUB2	29902	<ul><li>R->G at 225: in dbSNP:rs17188964</ul>									rs17188964	2
Q8WUD1	84932	<ul><li>N->T at 212: in dbSNP:rs17106411</ul>									rs17106411	2
Q8WUD6	56994	<ul><li>F->S at 162: in dbSNP:rs3205421<li>Y->S at 323: in MCF-12A cell line</ul>									rs3205421	2
Q8WUF8	83989	<ul><li>S->N at 131: in dbSNP:rs17083426</ul>									rs17083426	2
Q8WUH2	9392	<ul><li>H->R at 725: in dbSNP:rs2241797</ul>									rs2241797	2
Q8WUI4		<ul><li>V->M at 43: in a breast cancer sample; somatic mutation</ul>										2
Q8WUJ1	124936	<ul><li>R->G at 7: in a colorectal cancer sample; somatic mutation<li>R->P at 7: in a colorectal cancer sample; somatic mutation</ul>										2
Q8WUJ3	57214	<ul><li>R->C at 187: in non-syndromic hearing loss; in one family<li>R->H at 187: in non-syndromic hearing loss; in two unrelated families<li>H->R at 783: in dbSNP:rs12441101<li>H->Y at 783: in non-syndromic hearing loss; in one sporadic case<li>V->I at 1109<li>P->A at 1169: common polymorphism; dbSNP:rs16972583</ul>	hearing	GO:0007605							<li>rs16972583</li><li>rs12441101</li>	2
Q8WUM0	55746	<ul><li>T->P at 106: in dbSNP:rs428231<li>I->V at 294: in dbSNP:rs11805194<li>G->V at 326: in a breast cancer sample; somatic mutation<li>Q->R at 406: in dbSNP:rs1065674<li>G->R at 448: in a breast cancer sample; somatic mutation</ul>									<li>rs1065674</li><li>rs11805194</li><li>rs428231</li>	2
Q8WUM4	10015	<ul><li>A->T at 309: in dbSNP:rs3792594<li>V->I at 378: in dbSNP:rs3203777<li>N->S at 550: in dbSNP:rs9813017<li>K->E at 638: in dbSNP:rs3183982<li>S->L at 730: in dbSNP:rs1127732</ul>									<li>rs3203777</li><li>rs3183982</li><li>rs1127732</li><li>rs3792594</li><li>rs9813017</li>	2
Q8WUN3		<ul><li>C->R at 167: in dbSNP:rs2979109<li>T->P at 189: in dbSNP:rs12678688</ul>									<li>rs2979109</li><li>rs12678688</li>	2
Q8WUN7	92181	<ul><li>M->I at 129: in dbSNP:rs17074452</ul>									rs17074452	2
Q8WUP2	54751	<ul><li>R->C at 39: in dbSNP:rs34375304<li>S->F at 191: in dbSNP:rs10927851</ul>									<li>rs10927851</li><li>rs34375304</li>	2
Q8WUT4	164312	<ul><li>P->L at 138: in dbSNP:rs6107751<li>T->A at 141: in dbSNP:rs1884643</ul>									<li>rs6107751</li><li>rs1884643</li>	2
Q8WUT9	203427	<ul><li>P->L at 334: in dbSNP:rs3810755</ul>									rs3810755	2
Q8WUU5	57798	<ul><li>G->S at 54: in dbSNP:rs10281879</ul>									rs10281879	2
Q8WUX1	92745	<ul><li>M->T at 451: in dbSNP:rs17281188</ul>									rs17281188	2
Q8WUX2	494143	<ul><li>R->G at 82: in dbSNP:rs17851583</ul>									rs17851583	2
Q8WUY1	51337	<ul><li>E->Q at 93: in dbSNP:rs17851711</ul>									rs17851711	2
Q8WUY9	55789	<ul><li>R->M at 332: in dbSNP:rs17856590<li>V->L at 395: in dbSNP:rs17851707</ul>									<li>rs17856590</li><li>rs17851707</li>	2
Q8WV16	26094	<ul><li>W->C at 22: in dbSNP:rs2302588<li>K->T at 193: in dbSNP:rs17856582<li>N->S at 266: in dbSNP:rs7155812<li>L->F at 334: in dbSNP:rs17856583<li>S->C at 345: in dbSNP:rs3815460<li>R->I at 439: in dbSNP:rs17856584</ul>									<li>rs17856582</li><li>rs17856584</li><li>rs17856583</li><li>rs7155812</li><li>rs2302588</li><li>rs3815460</li>	2
Q8WV19	113402	<ul><li>I->V at 109: in dbSNP:rs11551053</ul>									rs11551053	2
Q8WV22	197370	<ul><li>T->R at 38: in dbSNP:rs7195194<li>N->S at 47: in dbSNP:rs17856580</ul>									<li>rs7195194</li><li>rs17856580</li>	2
Q8WV35	26231	<ul><li>R->Q at 75: in dbSNP:rs3743728<li>G->S at 117: in dbSNP:rs34595673</ul>									<li>rs34595673</li><li>rs3743728</li>	2
Q8WV37	147657	<ul><li>P->S at 158: in dbSNP:rs13343641<li>H->Q at 342: in a colorectal cancer sample; somatic mutation</ul>									rs13343641	2
Q8WV44	90933	<ul><li>A->T at 78: in dbSNP:rs6601178<li>D->G at 438: in dbSNP:rs2241371</ul>									<li>rs2241371</li><li>rs6601178</li>	2
Q8WV48	203260	<ul><li>S->F at 190: in dbSNP:rs2275420<li>I->V at 220: in dbSNP:rs1339374<li>S->C at 242: in dbSNP:rs10441685</ul>									<li>rs2275420</li><li>rs10441685</li><li>rs1339374</li>	2
Q8WVB3	284004	<ul><li>I->V at 145: in dbSNP:rs4789773</ul>									rs4789773	2
Q8WVB6	63922	<ul><li>S->F at 63: in dbSNP:rs2277902<li>Q->P at 82: in dbSNP:rs2277901<li>K->R at 244: in dbSNP:rs3765263<li>A->S at 466: in dbSNP:rs34595992<li>P->L at 928: in dbSNP:rs2294451</ul>									<li>rs2294451</li><li>rs3765263</li><li>rs2277901</li><li>rs2277902</li><li>rs34595992</li>	2
Q8WVC6	79877	<ul><li>N->I at 84: in dbSNP:rs17850104</ul>									rs17850104	2
Q8WVD3	51444	<ul><li>K->R at 81: in dbSNP:rs7229690</ul>									rs7229690	2
Q8WVE0	221143	<ul><li>T->N at 193: in dbSNP:rs11549810</ul>									rs11549810	2
Q8WVF1	127700	<ul><li>P->R at 31: in dbSNP:rs11547025<li>K->E at 232: in dbSNP:rs2359016</ul>									<li>rs11547025</li><li>rs2359016</li>	2
Q8WVK2	11017	<ul><li>T->I at 81<li>S->F at 114</ul>										2
Q8WVM7	10274	<ul><li>Q->H at 1132: in dbSNP:rs34149860</ul>									rs34149860	2
Q8WVM8	23256	<ul><li>K->R at 63: in dbSNP:rs229150</ul>									rs229150	2
Q8WVP5	126282	<ul><li>A->V at 118: in dbSNP:rs17851549</ul>									rs17851549	2
Q8WVP7	64327	<ul><li>T->A at 228: in dbSNP:rs6957768</ul>									rs6957768	2
Q8WVR3	55262	<ul><li>R->H at 295: in dbSNP:rs2293477</ul>									rs2293477	2
Q8WVS4	55112	<ul><li>E->G at 91: in dbSNP:rs17837851<li>Q->R at 273: in dbSNP:rs2788478</ul>									<li>rs17837851</li><li>rs2788478</li>	2
Q8WVT3	51112	<ul><li>S->G at 301: in dbSNP:rs11686212<li>E->Q at 717: in a breast cancer sample; somatic mutation</ul>									rs11686212	2
Q8WVV4	79983	<ul><li>P->S at 207: in dbSNP:rs363766<li>C->S at 239<li>E->A at 296: in dbSNP:rs363751<li>M->V at 323: in dbSNP:rs363775<li>R->Q at 329: in POF2B; disrupts binding to nonmuscle actin filaments, MIM: 300604<li>M->L at 349: in dbSNP:rs363774, MIM: 300604<li>Q->K at 434, MIM: 300604<li>C->Y at 444, MIM: 300604</ul>			binding	GO:0005488			<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>O17320</li><li>P53689</li><li>P78711</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P45520</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>P14235</li><li>O00937</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>	Premature ovarian failure type 2B (POF2B) [MIM:300604]	<li>rs363766</li><li>rs363751</li><li>rs363775</li><li>rs363774</li>	2
Q8WVV5	10385	<ul><li>P->S at 479: in dbSNP:rs16891646</ul>									rs16891646	2
Q8WVX3	401152	<ul><li>Q->R at 17: in dbSNP:rs17851522<li>P->H at 32: in dbSNP:rs11544530</ul>									<li>rs11544530</li><li>rs17851522</li>	2
Q8WVX9	84188	<ul><li>E->K at 96: in dbSNP:rs12793516</ul>									rs12793516	2
Q8WVZ1	131540	<ul><li>G->A at 66: in dbSNP:rs13315830</ul>									rs13315830	2
Q8WW01	116461	<ul><li>G->D at 19: in dbSNP:rs2274432<li>Q->H at 59: in dbSNP:rs1046934</ul>									<li>rs1046934</li><li>rs2274432</li>	2
Q8WW14	143379	<ul><li>T->M at 124: in dbSNP:rs11551267</ul>									rs11551267	2
Q8WW18	146853	<ul><li>D->E at 22: in dbSNP:rs4795087</ul>									rs4795087	2
Q8WW24	150483	<ul><li>T->M at 83: in dbSNP:rs4854235<li>K->N at 102: in dbSNP:rs17802433<li>C->S at 272: in a breast cancer sample; somatic mutation<li>N->K at 409: in dbSNP:rs17120062</ul>									<li>rs17802433</li><li>rs17120062</li><li>rs4854235</li>	2
Q8WW27	403314	<ul><li>S->F at 75: in dbSNP:rs16861394<li>F->S at 271: in dbSNP:rs1174658<li>P->S at 275: in dbSNP:rs10911391<li>D->G at 300: in dbSNP:rs16861381<li>K->E at 331: in dbSNP:rs1174657<li>V->M at 345: in dbSNP:rs10911390</ul>									<li>rs16861394</li><li>rs1174657</li><li>rs1174658</li><li>rs16861381</li><li>rs10911390</li><li>rs10911391</li>	2
Q8WW38	23414	<ul><li>E->G at 30: in TOF; in one patient with sporadic TOF; does not affect its ability to interact with GATA4, MIM: 187500<li>A->G at 403: in dbSNP:rs11993776, MIM: 187500<li>S->G at 657: in TOF; in one patient with sporadic TOF; slightly impairs its ability to interact with GATA4; dbSNP:rs28374544, MIM: 187500<li>E->D at 782: in dbSNP:rs2920048, MIM: 187500<li>A->V at 1055: in dbSNP:rs16873741, MIM: 187500</ul>							<li>O49743</li><li>P43694</li><li>P43691</li>	Tetralogy of Fallot (TOF) [MIM:187500]	<li>rs16873741</li><li>rs11993776</li><li>rs28374544</li><li>rs2920048</li>	2
Q8WW43	83464	<ul><li>F->L at 217: in dbSNP:rs1047552</ul>									rs1047552	2
Q8WW52	338094	<ul><li>D->N at 51: in dbSNP:rs17399297<li>N->D at 87: in dbSNP:rs17856620<li>I->T at 119: in dbSNP:rs17851843<li>A->V at 416: in dbSNP:rs1368883<li>G->A at 526: in dbSNP:rs11206394<li>G->D at 546: in dbSNP:rs2289015</ul>									<li>rs17851843</li><li>rs1368883</li><li>rs11206394</li><li>rs17856620</li><li>rs2289015</li><li>rs17399297</li>	2
Q8WW59	283377	<ul><li>T->M at 50: in dbSNP:rs2657881</ul>									rs2657881	2
Q8WWA0	55600	<ul><li>V->D at 109: in dbSNP:rs2274907<li>R->P at 313: in dbSNP:rs8144</ul>									<li>rs8144</li><li>rs2274907</li>	2
Q8WWB5	120379	<ul><li>A->V at 117: in dbSNP:rs1425917</ul>									rs1425917	2
Q8WWB7	112770	<ul><li>V->I at 94: in dbSNP:rs1570805<li>P->S at 203: in dbSNP:rs10908496<li>I->V at 223: in dbSNP:rs10908495</ul>									<li>rs10908496</li><li>rs10908495</li><li>rs1570805</li>	2
Q8WWC4	79568	<ul><li>L->I at 290: in dbSNP:rs2118548</ul>									rs2118548	2
Q8WWF3	136263	<ul><li>R->W at 88: in dbSNP:rs4728190</ul>									rs4728190	2
Q8WWF5	148066	<ul><li>P->S at 37: in dbSNP:rs2240743<li>R->Q at 78: in dbSNP:rs2240744<li>V->I at 100: in dbSNP:rs2240745<li>A->S at 157: in dbSNP:rs8103406<li>V->A at 159: in dbSNP:rs8107825<li>R->C at 163: in dbSNP:rs8104246<li>R->H at 163: in dbSNP:rs17304380<li>D->N at 192: in dbSNP:rs16992985</ul>									<li>rs16992985</li><li>rs17304380</li><li>rs2240743</li><li>rs2240744</li><li>rs8104246</li><li>rs8103406</li><li>rs2240745</li><li>rs8107825</li>	2
Q8WWF8	133690	<ul><li>R->Q at 85: in dbSNP:rs1445898<li>M->V at 201: in dbSNP:rs1345826</ul>									<li>rs1345826</li><li>rs1445898</li>	2
Q8WWG9		<ul><li>G->S at 47: in dbSNP:rs13409084<li>E->D at 145: in dbSNP:rs12621643</ul>									<li>rs12621643</li><li>rs13409084</li>	2
Q8WWH4	136991	<ul><li>K->T at 216: in dbSNP:rs1029396</ul>									rs1029396	2
Q8WWH5	142940	<ul><li>E->A at 103: in dbSNP:rs34393297<li>R->K at 167: in dbSNP:rs7099565</ul>									<li>rs34393297</li><li>rs7099565</li>	2
Q8WWI1	4008	<ul><li>T->A at 354: in a colorectal cancer sample; somatic mutation<li>L->M at 785: in a colorectal cancer sample; somatic mutation</ul>										2
Q8WWI5	23446	<ul><li>S->A at 644: in dbSNP:rs3199966</ul>									rs3199966	2
Q8WWK9	26586	<ul><li>M->K at 236: in dbSNP:rs35975899<li>I->V at 323: in dbSNP:rs7335867</ul>									<li>rs7335867</li><li>rs35975899</li>	2
Q8WWL7	85417	<ul><li>K->T at 597: in a colorectal cancer sample; somatic mutation<li>G->R at 1001: in dbSNP:rs6614336</ul>									rs6614336	2
Q8WWN8	64411	<ul><li>D->H at 218: in dbSNP:rs1031904<li>R->W at 471: in a colorectal cancer sample; somatic mutation<li>I->M at 1085: in a breast cancer sample; somatic mutation<li>T->P at 1428: in a breast cancer sample; somatic mutation</ul>									rs1031904	2
Q8WWN9	26034	<ul><li>S->P at 194: in dbSNP:rs1060390</ul>									rs1060390	2
Q8WWP7	170575	<ul><li>V->E at 166: in a breast cancer sample; somatic mutation<li>R->S at 254: in dbSNP:rs7811263</ul>									rs7811263	2
Q8WWQ0	55023	<ul><li>V->I at 469: in a colorectal cancer sample; somatic mutation<li>G->V at 663: in dbSNP:rs7747479<li>T->I at 874: in dbSNP:rs11547228<li>L->P at 1093: in dbSNP:rs9350797<li>T->P at 1135: in dbSNP:rs34841569<li>N->T at 1445: in dbSNP:rs36048894<li>R->I at 1767: in a colorectal cancer sample; somatic mutation</ul>									<li>rs11547228</li><li>rs36048894</li><li>rs7747479</li><li>rs34841569</li><li>rs9350797</li>	2
Q8WWQ2	60495	<ul><li>A->T at 315: in dbSNP:rs17110744<li>Y->F at 579: in dbSNP:rs10883100</ul>									<li>rs17110744</li><li>rs10883100</li>	2
Q8WWQ8	55576	<ul><li>I->V at 110: in dbSNP:rs17034186<li>E->K at 306: in dbSNP:rs12319476<li>P->H at 510: in dbSNP:rs1609860<li>R->Q at 787: in dbSNP:rs17034336<li>R->H at 881: in dbSNP:rs7973658<li>N->T at 1736: in dbSNP:rs17034433<li>P->T at 2039: in dbSNP:rs7306642<li>L->V at 2401: in dbSNP:rs2271637<li>Y->S at 2519: in dbSNP:rs3751197</ul>									<li>rs7973658</li><li>rs7306642</li><li>rs17034336</li><li>rs1609860</li><li>rs12319476</li><li>rs3751197</li><li>rs17034433</li><li>rs2271637</li><li>rs17034186</li>	2
Q8WWU5	6954	<ul><li>G->A at 253: in dbSNP:rs2234045<li>R->Q at 429: in dbSNP:rs2234051</ul>									<li>rs2234051</li><li>rs2234045</li>	2
Q8WWU7	142683	<ul><li>R->H at 103: in dbSNP:rs6680969<li>Q->R at 171: in dbSNP:rs12090411</ul>									<li>rs6680969</li><li>rs12090411</li>	2
Q8WWW8	139716	<ul><li>P->S at 237: in dbSNP:rs17281349</ul>									rs17281349	2
Q8WWX8	115584	<ul><li>T->P at 47: in dbSNP:rs36048966<li>V->A at 182: reduces serum myo-inositol concentration; dbSNP:rs11074656<li>F->L at 258: in dbSNP:rs35993597<li>Q->R at 452: in dbSNP:rs17854935<li>M->I at 526</ul>									<li>rs11074656</li><li>rs36048966</li><li>rs17854935</li><li>rs35993597</li>	2
Q8WWY3	26121	<ul><li>Missing  at 111-114: in RP11; high penetrance<li>A->E at 194: in RP11; mislocation of the protein in the cytoplasm; the result may be a deficiency in splicing function in the retina, MIM: 600138<li>A->P at 216: in RP11; mislocation of the protein in the cytoplasm; the result may be a deficiency in splicing function in the retina, MIM: 600138</ul>					cytoplasm	GO:0005737	P05737	Retinitis pigmentosa type 11 (RP11) [MIM:600138]		2
Q8WWY6	85509	<ul><li>C->R at 190: in dbSNP:rs2972588</ul>									rs2972588	2
Q8WWY8	200879	<ul><li>Missing  at 172-205: in AUCM</ul>										2
Q8WWZ1	84639	<ul><li>I->T at 44: in dbSNP:rs6761276<li>A->D at 51: in dbSNP:rs6743376</ul>									<li>rs6743376</li><li>rs6761276</li>	2
Q8WWZ3	128178	<ul><li>M->I at 9: in dbSNP:rs966365<li>S->F at 103<li>L->R at 122: in EDA; severely impairs NF-kappa-B activation and acted in a dominant-negative manner, MIM: 224900<li>E->K at 152: in EDA; may reduce binding to EDAR; impairs NF-kappa-B activation by about 50%, MIM: 224900</ul>			binding	GO:0005488			<li>Q9UNE0</li><li>Q92838</li><li>Q9BEG5</li><li>Q90VY2</li>	Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]	rs966365	2
Q8WWZ4	10349	<ul><li>P->S at 203: in dbSNP:rs9909216<li>V->I at 287: in dbSNP:rs11657804<li>T->M at 916: in dbSNP:rs4968849</ul>									<li>rs11657804</li><li>rs4968849</li><li>rs9909216</li>	2
Q8WWZ7	23461	<ul><li>Q->K at 93: in dbSNP:rs12383<li>A->T at 178: in dbSNP:rs11544715<li>Q->R at 484: in dbSNP:rs17686569<li>M->V at 753: in dbSNP:rs9898003<li>A->S at 832: in dbSNP:rs536009<li>M->V at 960: in dbSNP:rs557491<li>D->G at 1260: in dbSNP:rs11544716</ul>									<li>rs17686569</li><li>rs9898003</li><li>rs11544716</li><li>rs536009</li><li>rs11544715</li><li>rs12383</li><li>rs557491</li>	2
Q8WWZ8	170392	<ul><li>S->P at 237: in dbSNP:rs35089256</ul>									rs35089256	2
Q8WX93	23022	<ul><li>M->I at 224: in dbSNP:rs7671781</ul>									rs7671781	2
Q8WX94	199713	<ul><li>V->I at 319: in dbSNP:rs775882<li>R->P at 693: in HYDM, MIM: 231090<li>R->W at 693: in HYDM, MIM: 231090<li>N->S at 913: in HYDM, MIM: 231090<li>T->A at 971: in dbSNP:rs7256020, MIM: 231090</ul>								Hydatidiform mole (HYDM) [MIM:231090]	<li>rs7256020</li><li>rs775882</li>	2
Q8WXA2	160065	<ul><li>V->I at 46: in dbSNP:rs537916<li>Q->R at 47: in dbSNP:rs2114084</ul>									<li>rs2114084</li><li>rs537916</li>	2
Q8WXA8	170572	<ul><li>V->M at 128: in a colorectal cancer sample; somatic mutation<li>N->K at 163: in dbSNP:rs6766410<li>G->A at 405: in dbSNP:rs6807362</ul>									<li>rs6807362</li><li>rs6766410</li>	2
Q8WXB1	151194	<ul><li>T->I at 192: in dbSNP:rs2551949</ul>									rs2551949	2
Q8WXB4	80095	<ul><li>S->G at 141: in dbSNP:rs11673029</ul>									rs11673029	2
Q8WXC7	643905	<ul><li>G->S at 58: in dbSNP:rs10439373<li>K->M at 342: in dbSNP:rs6732185<li>S->A at 380: in dbSNP:rs6728493</ul>									<li>rs6732185</li><li>rs6728493</li><li>rs10439373</li>	2
Q8WXD0	122042	<ul><li>T->P at 222: in cryptorchidism; functionally inactive: in dbSNP rsrs28939382, MIM: 219050<li>I->V at 604: in dbSNP:rs17076657, MIM: 219050</ul>								Cryptorchidism [MIM:219050]	<li>rs17076657</li><li>rs28939382</li>	2
Q8WXD2	29106	<ul><li>S->N at 125: in dbSNP:rs2305710<li>M->V at 233: in dbSNP:rs35664837</ul>									<li>rs35664837</li><li>rs2305710</li>	2
Q8WXD5	79833	<ul><li>G->D at 140: in dbSNP:rs1056104</ul>									rs1056104	2
Q8WXE1	84126	<ul><li>K->Q at 125: in dbSNP:rs11925638<li>P->L at 240: in dbSNP:rs35240314</ul>									<li>rs11925638</li><li>rs35240314</li>	2
Q8WXE9	85439	<ul><li>S->P at 307: in dbSNP:rs3813535<li>R->H at 646: in dbSNP:rs34323725<li>T->A at 694: in dbSNP:rs35689202<li>S->A at 851: in dbSNP:rs2241621</ul>									<li>rs35689202</li><li>rs3813535</li><li>rs34323725</li><li>rs2241621</li>	2
Q8WXF7	51062	<ul><li>A->P at 161: in SPG3, MIM: 182600<li>R->Q at 217: in SPG3, MIM: 182600<li>R->C at 239: in SPG3, MIM: 182600<li>H->P at 247: in SPG3, MIM: 182600<li>H->R at 258: in SPG3, MIM: 182600<li>S->Y at 259: in SPG3, MIM: 182600</ul>							<li>P15521</li><li>Q04398</li>	Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]		2
Q8WXG1	91543	<ul><li>L->R at 42: in dbSNP:rs17851586<li>V->I at 52: in dbSNP:rs2305257</ul>									<li>rs2305257</li><li>rs17851586</li>	2
Q8WXG6	8567	<ul><li>P->T at 696: in dbSNP:rs17854007<li>V->M at 751: in dbSNP:rs1051006<li>R->Q at 765: in dbSNP:rs3736101<li>R->G at 968: in dbSNP:rs17854008<li>L->F at 1040: in dbSNP:rs17854009<li>L->P at 1518: in dbSNP:rs34534575</ul>									<li>rs17854008</li><li>rs17854009</li><li>rs1051006</li><li>rs3736101</li><li>rs17854007</li><li>rs34534575</li>	2
Q8WXG9		<ul><li>L->R at 127: in dbSNP:rs41311333<li>R->K at 249: in dbSNP:rs41303344<li>V->A at 551: in dbSNP:rs6889939<li>L->F at 1093: in dbSNP:rs2366777<li>I->V at 1187: in dbSNP:rs16868935<li>T->I at 1916: in dbSNP:rs35791889<li>T->M at 1927: in dbSNP:rs17544552<li>V->I at 1951: in dbSNP:rs4916684<li>N->D at 1985: in dbSNP:rs41303352<li>P->L at 1987: in dbSNP:rs4916685<li>L->F at 2004: in dbSNP:rs16868972<li>R->C at 2097: in dbSNP:rs16868974<li>Y->C at 2232: in dbSNP:rs10037067<li>N->S at 2345: in dbSNP:rs2366926<li>G->A at 2379<li>N->S at 2584: in dbSNP:rs1878878<li>S->L at 2764: in dbSNP:rs16869016<li>A->T at 2803<li>V->I at 3094: in dbSNP:rs13157270<li>A->V at 3217<li>G->D at 3248: in dbSNP:rs16869032<li>F->L at 3347: in dbSNP:rs10067636<li>E->K at 3471: in dbSNP:rs2366928<li>E->A at 3868: in dbSNP:rs16869088<li>E->G at 5344<li>T->A at 5438</ul>									<li>rs41303344</li><li>rs10067636</li><li>rs16869088</li><li>rs41303352</li><li>rs10037067</li><li>rs16868972</li><li>rs35791889</li><li>rs16868974</li><li>rs16869032</li><li>rs16869016</li><li>rs2366777</li><li>rs2366926</li><li>rs4916684</li><li>rs2366928</li><li>rs16868935</li><li>rs13157270</li><li>rs1878878</li><li>rs6889939</li><li>rs41311333</li><li>rs4916685</li><li>rs17544552</li>	2
Q8WXH0	23224	<ul><li>P->S at 8: in dbSNP:rs2275017<li>S->R at 432: in dbSNP:rs35554503<li>I->T at 574: in dbSNP:rs9944035<li>R->W at 1393: in dbSNP:rs17751301<li>M->T at 1969: in dbSNP:rs4902264<li>A->V at 2284: in dbSNP:rs4027402<li>A->E at 2347: in dbSNP:rs34625768<li>N->S at 2358: in dbSNP:rs4027404<li>S->G at 2359: in dbSNP:rs7157465<li>S->N at 2359: in dbSNP:rs4027404<li>A->T at 2394: in dbSNP:rs4027405<li>A->T at 2395: in dbSNP:rs4027405<li>V->G at 2490: in dbSNP:rs34393543<li>I->V at 2564: in dbSNP:rs11628107<li>G->S at 2801: in dbSNP:rs1890908<li>S->G at 2802: in dbSNP:rs1890908<li>I->V at 2942: in dbSNP:rs3829767<li>E->D at 3026: in dbSNP:rs34843668<li>N->S at 3130: in dbSNP:rs11847087<li>D->H at 3253: in dbSNP:rs8010911<li>H->R at 3309: in dbSNP:rs8010699<li>K->Q at 3523: in dbSNP:rs35203186<li>N->H at 3982: in dbSNP:rs10137972<li>R->H at 4041: in dbSNP:rs17101661<li>P->A at 4912: in dbSNP:rs17766354<li>E->K at 4913: in dbSNP:rs12881815<li>H->Y at 5086: in dbSNP:rs2039475<li>L->M at 5186: in dbSNP:rs10151658<li>D->N at 5547: in dbSNP:rs17179194<li>V->I at 5940: in a breast cancer sample; somatic mutation<li>A->V at 6155: in dbSNP:rs2275014<li>Y->C at 6200: in a breast cancer sample; somatic mutation<li>K->E at 6681: in dbSNP:rs35315070<li>R->W at 6697: in dbSNP:rs35700578</ul>									<li>rs35554503</li><li>rs17101661</li><li>rs17179194</li><li>rs35700578</li><li>rs35203186</li><li>rs10137972</li><li>rs2275014</li><li>rs35315070</li><li>rs11847087</li><li>rs2275017</li><li>rs1890908</li><li>rs4902264</li><li>rs17751301</li><li>rs8010911</li><li>rs4027405</li><li>rs4027404</li><li>rs4027402</li><li>rs8010699</li><li>rs7157465</li><li>rs9944035</li><li>rs12881815</li><li>rs34625768</li><li>rs34393543</li><li>rs3829767</li><li>rs11628107</li><li>rs34843668</li><li>rs10151658</li><li>rs17766354</li><li>rs2039475</li>	2
Q8WXH2	57338	<ul><li>I->T at 376: in dbSNP:rs17857118<li>P->T at 472: in dbSNP:rs17853660<li>P->L at 645: in dbSNP:rs17853661</ul>									<li>rs17857118</li><li>rs17853660</li><li>rs17853661</li>	2
Q8WXH4	140456	<ul><li>D->N at 249: in dbSNP:rs34025595<li>S->G at 263: in dbSNP:rs35859007</ul>									<li>rs34025595</li><li>rs35859007</li>	2
Q8WXH6	142684	<ul><li>H->L at 45: in dbSNP:rs1180895</ul>									rs1180895	2
Q8WXI2	22866	<ul><li>R->H at 46: in a colorectal cancer sample; somatic mutation</ul>										2
Q8WXI3	136371	<ul><li>R->C at 453: in dbSNP:rs3800791</ul>									rs3800791	2
Q8WXI4	26027	<ul><li>R->W at 11: in dbSNP:rs34630746<li>P->L at 165: in dbSNP:rs2304306<li>G->D at 202: in dbSNP:rs1702003<li>M->I at 212: in dbSNP:rs2304305<li>R->H at 536: in dbSNP:rs12403630</ul>									<li>rs34630746</li><li>rs1702003</li><li>rs2304305</li><li>rs2304306</li><li>rs12403630</li>	2
Q8WXI8	338339	<ul><li>S->G at 32: in dbSNP:rs4304840</ul>									rs4304840	2
Q8WXJ9	127247	<ul><li>S->N at 2: in dbSNP:rs3795251<li>V->A at 101: in dbSNP:rs1796814</ul>									<li>rs3795251</li><li>rs1796814</li>	2
Q8WXK8	667	<ul><li>N->K at 993: in dbSNP:rs35014998<li>H->Y at 1116: in dbSNP:rs6909714</ul>									<li>rs6909714</li><li>rs35014998</li>	2
Q8WXQ8	93979	<ul><li>P->S at 79: in dbSNP:rs17388190<li>L->S at 336: in dbSNP:rs11761888<li>E->D at 338: in dbSNP rsrs17854248<li>S->G at 378: in dbSNP:rs11765961</ul>									<li>rs11765961</li><li>rs17388190</li><li>rs17854248</li><li>rs11761888</li>	2
Q8WXR4	140469	<ul><li>P->S at 21: in dbSNP rsrs35391761<li>R->H at 185: in dbSNP rsrs55911154<li>N->S at 267: in dbSNP rsrs34509373<li>I->V at 275: in dbSNP:rs10209102<li>K->E at 309: in dbSNP:rs4668246<li>H->L at 316: in dbSNP rsrs55633190<li>E->Q at 352: in dbSNP rsrs56179904<li>N->S at 388: in dbSNP rsrs34273653<li>A->T at 406: in dbSNP:rs10168181<li>Q->P at 638: in dbSNP rsrs55911627<li>V->I at 770: in dbSNP:rs6736609<li>E->G at 773: in dbSNP rsrs33962844<li>E->K at 798: in dbSNP:rs11892763<li>R->Q at 918: in dbSNP rsrs55769829<li>S->C at 969: in dbSNP rsrs35857918<li>R->C at 990: in dbSNP rsrs34236931<li>K->R at 1082: in dbSNP:rs10185178<li>I->V at 1092: in dbSNP rsrs34219776<li>V->I at 1137: in dbSNP rsrs34546065<li>R->C at 1165: in dbSNP rsrs56052422</ul>									<li>rs34509373</li><li>rs56179904</li><li>rs10209102</li><li>rs33962844</li><li>rs6736609</li><li>rs11892763</li><li>rs55633190</li><li>rs34273653</li><li>rs10185178</li><li>rs34546065</li><li>rs4668246</li><li>rs10168181</li><li>rs35857918</li><li>rs34236931</li><li>rs55911627</li><li>rs56052422</li><li>rs34219776</li><li>rs35391761</li><li>rs55769829</li><li>rs55911154</li>	2
Q8WXS8	140766	<ul><li>R->C at 179: in dbSNP:rs34022601<li>P->L at 590: in dbSNP:rs10823607<li>L->M at 937: in dbSNP:rs12774070<li>S->N at 1017: in dbSNP:rs10999516<li>E->G at 1049: in dbSNP:rs4747096</ul>									<li>rs34022601</li><li>rs10823607</li><li>rs10999516</li><li>rs12774070</li><li>rs4747096</li>	2
Q8WXU2	161582	<ul><li>P->S at 2<li>N->K at 38: in dbSNP:rs16976354<li>V->I at 91: in dbSNP:rs17819126<li>E->G at 191: in dbSNP:rs600753<li>A->V at 332: in dbSNP:rs17855756<li>S->C at 420</ul>									<li>rs600753</li><li>rs17819126</li><li>rs16976354</li><li>rs17855756</li>	2
Q8WXW3	10464	<ul><li>I->V at 167: in dbSNP:rs1372000<li>R->Q at 405: in dbSNP:rs17089782<li>I->V at 630: in dbSNP:rs11544631</ul>									<li>rs11544631</li><li>rs1372000</li><li>rs17089782</li>	2
Q8WXX0	56171	<ul><li>H->P at 169: in dbSNP:rs1072599<li>A->T at 280: in dbSNP:rs2375643<li>I->V at 315: in dbSNP:rs17838596<li>S->N at 438: in dbSNP:rs16843720<li>R->C at 545: in dbSNP:rs10931715<li>D->H at 565: in dbSNP:rs2635718<li>K->E at 675: in dbSNP:rs10198893<li>K->E at 825: in dbSNP:rs6719500<li>P->T at 1422: in dbSNP:rs168192<li>E->K at 1525: in dbSNP:rs13415574<li>R->Q at 1886: in dbSNP:rs13034775<li>P->L at 1940: in dbSNP:rs2375544<li>P->L at 1971: in dbSNP:rs2889109<li>M->T at 2020: in dbSNP:rs10184131<li>N->K at 2459: in dbSNP:rs16841199<li>T->I at 2569: in dbSNP:rs2293066<li>I->V at 2809: in dbSNP:rs16841018<li>P->L at 3319: in dbSNP:rs13411834<li>R->H at 3386: in dbSNP:rs6708527</ul>									<li>rs17838596</li><li>rs2375643</li><li>rs2889109</li><li>rs13411834</li><li>rs10931715</li><li>rs2635718</li><li>rs16841199</li><li>rs168192</li><li>rs1072599</li><li>rs6719500</li><li>rs2375544</li><li>rs13034775</li><li>rs10198893</li><li>rs16841018</li><li>rs13415574</li><li>rs6708527</li><li>rs10184131</li><li>rs16843720</li><li>rs2293066</li>	2
Q8WXX7	26053	<ul><li>A->S at 303: in dbSNP:rs2293507</ul>									rs2293507	2
Q8WY07	84889	<ul><li>L->V at 508: in dbSNP:rs6525447</ul>									rs6525447	2
Q8WY21	114815	<ul><li>K->N at 223: in a breast cancer sample; somatic mutation</ul>										2
Q8WY54	22843	<ul><li>L->S at 233: in a breast cancer sample; somatic mutation<li>R->G at 322: in a breast cancer sample; somatic mutation</ul>										2
Q8WY64	29116	<ul><li>N->S at 342: in dbSNP:rs9370867</ul>									rs9370867	2
Q8WY91	51078	<ul><li>S->G at 121: in dbSNP:rs7424328</ul>									rs7424328	2
Q8WYA1	56938	<ul><li>N->S at 340: in dbSNP:rs1037921<li>A->V at 574: in dbSNP:rs11049005</ul>									<li>rs1037921</li><li>rs11049005</li>	2
Q8WYB5	23522	<ul><li>T->A at 483: in a breast cancer sample; somatic mutation<li>V->I at 1499: in dbSNP:rs3740321</ul>									rs3740321	2
Q8WYJ6	1731	<ul><li>G->V at 80: in dbSNP:rs34518080</ul>									rs34518080	2
Q8WYK0	134526	<ul><li>V->I at 230: in dbSNP:rs34607174<li>A->T at 403: in dbSNP:rs10371</ul>									<li>rs34607174</li><li>rs10371</li>	2
Q8WYK1	129684	<ul><li>S->L at 452: in dbSNP:rs17727261<li>T->M at 1195: in dbSNP:rs34165507</ul>									<li>rs34165507</li><li>rs17727261</li>	2
Q8WYK2	122953	<ul><li>T->A at 13: in dbSNP:rs3625</ul>									rs3625	2
Q8WYN3	80034	<ul><li>P->L at 474: in a colorectal cancer sample; somatic mutation</ul>										2
Q8WYP3	54453	<ul><li>S->T at 197: in dbSNP:rs3803981<li>A->T at 643: in dbSNP:rs199603</ul>									<li>rs199603</li><li>rs3803981</li>	2
Q8WYP5	25909	<ul><li>N->S at 883: in dbSNP:rs2642990<li>L->V at 2194: in dbSNP:rs12410563</ul>									<li>rs2642990</li><li>rs12410563</li>	2
Q8WYQ5	54487	<ul><li>I->V at 174: in dbSNP:rs35987994<li>N->D at 725: in dbSNP:rs11546015</ul>									<li>rs35987994</li><li>rs11546015</li>	2
Q8WYQ9	23174	<ul><li>I->V at 54: in dbSNP:rs11648852<li>G->A at 244: in dbSNP:rs13338940<li>L->V at 290: in a breast cancer sample; somatic mutation<li>V->M at 693: in dbSNP:rs3748400</ul>									<li>rs11648852</li><li>rs3748400</li><li>rs13338940</li>	2
Q8WYR1	23533	<ul><li>R->C at 28: in a colorectal cancer sample; somatic mutation</ul>										2
Q8WZ04		<ul><li>L->P at 16: in non-syndromic deafness<li>R->Q at 81: in non-syndromic deafness<li>W->R at 105: in non-syndromic deafness<li>E->K at 110: in non-syndromic deafness<li>R->H at 158: in non-syndromic deafness<li>R->Q at 208: in non-syndromic deafness</ul>										2
Q8WZ42	7273	<ul><li>V->M at 54: in CMD1G; affects interaction with TCAP/telethonin, MIM: 604145<li>D->Y at 60: in dbSNP rsrs35683768, MIM: 604145<li>V->M at 115: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>R->W at 279: in HMERF; disrupts NBR1-binding, MIM: 603689<li>R->C at 328: in dbSNP rsrs16866538, MIM: 603689<li>R->T at 360: in dbSNP rsrs56128843, MIM: 603689<li>V->I at 498, MIM: 603689<li>R->L at 740: in CMH9: in dbSNP rsrs28933405, MIM: 188840<li>A->V at 743: in CMD1G; affects interaction with TCAP/telethonin, MIM: 604145<li>T->M at 799: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145<li>T->I at 811: in dbSNP rsrs35813871, MIM: 604145<li>R->H at 922: in dbSNP rsrs56046320, MIM: 604145<li>E->D at 937: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>W->R at 976: in CMD1G, MIM: 604145<li>A->T at 1081: in dbSNP rsrs55914517, MIM: 604145<li>G->R at 1137, MIM: 604145<li>K->E at 1201: in dbSNP rsrs10497520, MIM: 604145<li>V->A at 1202, MIM: 604145<li>L->S at 1295: in dbSNP rsrs1552280, MIM: 604145<li>G->D at 1345: in dbSNP rsrs36021856, MIM: 604145<li>A->T at 1347: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>R->H at 1350: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>V->L at 1353: in dbSNP rsrs36062108, MIM: 604145<li>I->V at 1393: in dbSNP rsrs16866531, MIM: 604145<li>R->C at 1416, MIM: 604145<li>R->P at 1441, MIM: 604145<li>I->V at 1544, MIM: 604145<li>Q->R at 1572: in dbSNP rsrs12476289, MIM: 604145<li>R->G at 1658: in dbSNP rsrs56270960, MIM: 604145<li>R->Q at 1664: in an ovarian mucinous carcinoma sample; somatic mutation, MIM: 604145<li>G->D at 1692: in a lung squamous cell carcinoma sample; somatic mutation, MIM: 604145<li>P->L at 1744, MIM: 604145<li>S->G at 1772, MIM: 604145<li>T->I at 1907: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145<li>R->H at 1998, MIM: 604145<li>P->L at 2107: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145<li>I->T at 2118: in dbSNP rsrs56404770, MIM: 604145<li>A->T at 2164: in dbSNP rsrs56285559, MIM: 604145<li>D->Y at 2240, MIM: 604145<li>G->S at 2392: in dbSNP rsrs4894048, MIM: 604145<li>L->F at 2432: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 604145<li>I->M at 2610: in dbSNP rsrs56142888, MIM: 604145<li>I->M at 2771: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 604145<li>V->F at 2823: in dbSNP rsrs33917087, MIM: 604145<li>N->S at 2831: in dbSNP rsrs2306636, MIM: 604145<li>V->I at 2930: in dbSNP rsrs56373393, MIM: 604145<li>K->R at 3154: in dbSNP rsrs4893853, MIM: 604145<li>Q->E at 3191: in dbSNP rsrs33997263, MIM: 604145<li>P->L at 3238: in a bladder carcinoma sample; somatic mutation, MIM: 604145<li>V->G at 3250: in dbSNP rsrs55634230, MIM: 604145<li>V->M at 3261: in dbSNP rsrs2291311, MIM: 604145<li>R->Q at 3367: in dbSNP rsrs34819099, MIM: 604145<li>E->K at 3482: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>S->P at 3491, MIM: 604145<li>E->K at 3570: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 604145<li>L->V at 3590, MIM: 604145<li>I->V at 3762, MIM: 604145<li>S->Y at 3799: in CMD1G, MIM: 604145<li>I->F at 3877, MIM: 604145<li>I->L at 3965, MIM: 604145<li>R->Q at 4084, MIM: 604145<li>T->P at 4215, MIM: 604145<li>G->W at 4238, MIM: 604145<li>L->F at 4283, MIM: 604145<li>I->T at 4291: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145<li>G->D at 4303, MIM: 604145<li>D->E at 4427, MIM: 604145<li>S->N at 4465: in CMD1G, MIM: 604145<li>G->E at 12310, MIM: 604145<li>R->H at 12383, MIM: 604145<li>V->A at 12469, MIM: 604145<li>R->C at 12642: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>E->K at 12657: in a Wilms tumor; somatic mutation, MIM: 604145<li>K->E at 12679, MIM: 604145<li>S->F at 12720: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>R->C at 12798, MIM: 604145<li>E->G at 13049, MIM: 604145<li>E->K at 13083: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>R->L at 13096, MIM: 604145<li>Q->R at 13099: in a lung small cell carcinoma sample; somatic mutation, MIM: 604145<li>V->A at 13297, MIM: 604145<li>I->M at 13399, MIM: 604145<li>A->T at 13418, MIM: 604145<li>E->V at 13428, MIM: 604145<li>I->T at 13430, MIM: 604145<li>R->K at 13434: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 604145<li>D->N at 13469, MIM: 604145<li>K->N at 13495, MIM: 604145<li>N->S at 13785: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 604145<li>Q->H at 13870: in a lung small cell carcinoma sample; somatic mutation, MIM: 604145<li>V->I at 14109, MIM: 604145<li>R->Q at 14131, MIM: 604145<li>P->T at 14208, MIM: 604145<li>L->V at 14728: in a lung adenocarcinoma sample; somatic mutation, MIM: 604145<li>S->T at 14999, MIM: 604145<li>N->T at 15021, MIM: 604145<li>A->V at 15520, MIM: 604145<li>R->I at 15555: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145<li>R->Q at 15620, MIM: 604145<li>S->I at 15629, MIM: 604145<li>Y->C at 15635: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>R->Q at 15700, MIM: 604145<li>L->P at 15705, MIM: 604145<li>I->M at 15837, MIM: 604145<li>R->H at 16058, MIM: 604145<li>K->I at 16067, MIM: 604145<li>I->T at 16090, MIM: 604145<li>R->H at 16195: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>R->C at 16409, MIM: 604145<li>R->P at 16424, MIM: 604145<li>I->M at 16629, MIM: 604145<li>K->R at 16877, MIM: 604145<li>N->D at 17060, MIM: 604145<li>I->V at 17637, MIM: 604145<li>R->H at 17838, MIM: 604145<li>D->N at 17866, MIM: 604145<li>G->E at 17906: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>E->A at 18094, MIM: 604145<li>G->S at 18109, MIM: 604145<li>R->T at 18164: in an ovarian serous carcinoma sample; somatic mutation, MIM: 604145<li>P->L at 18221, MIM: 604145<li>A->T at 18222, MIM: 604145<li>R->Q at 18726, MIM: 604145<li>V->A at 18835: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 604145<li>R->K at 18881: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>N->S at 18939, MIM: 604145<li>R->Q at 19000, MIM: 604145<li>L->Q at 19060: in a lung large cell carcinoma sample; somatic mutation, MIM: 604145<li>R->K at 19091: in a lung large cell carcinoma sample; somatic mutation, MIM: 604145<li>P->S at 19224: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145<li>T->I at 19367, MIM: 604145<li>E->K at 19392: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 604145<li>A->S at 19480: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>D->G at 19495, MIM: 604145<li>R->H at 19665, MIM: 604145<li>T->I at 19762, MIM: 604145<li>G->R at 19947, MIM: 604145<li>V->M at 19956, MIM: 604145<li>R->Q at 19992, MIM: 604145<li>R->C at 20057, MIM: 604145<li>S->L at 20075, MIM: 604145<li>T->K at 20179, MIM: 604145<li>A->T at 20198, MIM: 604145<li>A->V at 20198, MIM: 604145<li>R->H at 20331, MIM: 604145<li>A->T at 20408: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>R->K at 20564, MIM: 604145<li>V->I at 20718, MIM: 604145<li>S->P at 20726, MIM: 604145<li>T->N at 20892, MIM: 604145<li>S->R at 20894, MIM: 604145<li>D->E at 21125, MIM: 604145<li>P->S at 21403, MIM: 604145<li>R->C at 21730, MIM: 604145<li>R->Q at 21747, MIM: 604145<li>C->R at 21851: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>G->R at 21925, MIM: 604145<li>R->H at 21995, MIM: 604145<li>A->V at 22045, MIM: 604145<li>R->H at 22149, MIM: 604145<li>V->I at 22160, MIM: 604145<li>I->T at 22261, MIM: 604145<li>K->N at 22306, MIM: 604145<li>R->H at 22357, MIM: 604145<li>L->P at 22408, MIM: 604145<li>Q->H at 22537: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>P->L at 22584, MIM: 604145<li>L->P at 22646: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>T->A at 22670, MIM: 604145<li>A->D at 22770, MIM: 604145<li>A->T at 22801: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>R->W at 22823: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>E->Q at 22968, MIM: 604145<li>P->L at 23074, MIM: 604145<li>L->F at 23079: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>D->N at 23282: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 604145<li>H->Y at 23303: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>R->C at 23306, MIM: 604145<li>A->S at 23515: in a lung squamous cell carcinoma sample; somatic mutation, MIM: 604145<li>E->Q at 23551: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>S->N at 23807, MIM: 604145<li>D->N at 23872: in an ovarian serous carcinoma sample; somatic mutation, MIM: 604145<li>V->A at 23891, MIM: 604145<li>Y->H at 23933, MIM: 604145<li>T->M at 23939, MIM: 604145<li>F->L at 23952: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>A->G at 24098, MIM: 604145<li>N->S at 24119, MIM: 604145<li>V->I at 24133, MIM: 604145<li>V->A at 24159: in a head and neck squamous cell carcinoma sample; somatic mutation, MIM: 604145<li>T->A at 24239, MIM: 604145<li>E->K at 24265, MIM: 604145<li>I->T at 24584, MIM: 604145<li>I->T at 24781, MIM: 604145<li>R->H at 24799, MIM: 604145<li>D->H at 24954, MIM: 604145<li>T->M at 24980, MIM: 604145<li>R->H at 25659, MIM: 604145<li>A->T at 25679, MIM: 604145<li>P->A at 25720, MIM: 604145<li>T->K at 25821, MIM: 604145<li>E->K at 25859: in a metastatic melanoma sample; somatic mutation, MIM: 604145<li>N->K at 25879, MIM: 604145<li>A->V at 25923, MIM: 604145<li>V->I at 26045, MIM: 604145<li>K->E at 26059: in a lung small cell carcinoma sample; somatic mutation, MIM: 604145<li>I->V at 26134, MIM: 604145<li>R->C at 26477, MIM: 604145<li>D->Y at 26843, MIM: 604145<li>K->R at 27346, MIM: 604145<li>R->C at 27652, MIM: 604145<li>G->V at 27728, MIM: 604145<li>F->L at 27754, MIM: 604145<li>I->T at 27755, MIM: 604145<li>I->V at 27929, MIM: 604145<li>I->L at 28132, MIM: 604145<li>R->Q at 28168, MIM: 604145<li>R->H at 28538, MIM: 604145<li>I->T at 28572, MIM: 604145<li>A->T at 28948, MIM: 604145<li>I->V at 28986, MIM: 604145<li>G->E at 28993, MIM: 604145<li>L->V at 28998, MIM: 604145<li>V->M at 29070, MIM: 604145<li>I->V at 29090, MIM: 604145<li>R->C at 29419, MIM: 604145<li>L->P at 29479, MIM: 604145<li>S->L at 29880: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145<li>D->E at 29976, MIM: 604145<li>S->G at 30042, MIM: 604145<li>R->C at 30107, MIM: 604145<li>S->F at 30125, MIM: 604145<li>L->P at 30211, MIM: 604145<li>I->T at 30412, MIM: 604145<li>T->S at 30617: in a renal chromophobe cancer sample; somatic mutation, MIM: 604145<li>T->I at 30674, MIM: 604145<li>V->I at 30809: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>F->I at 30818, MIM: 604145<li>E->K at 30825, MIM: 604145<li>I->T at 30856, MIM: 604145<li>G->D at 30887, MIM: 604145<li>G->S at 30887, MIM: 604145<li>R->H at 30897, MIM: 604145<li>R->H at 30907, MIM: 604145<li>R->H at 30946, MIM: 604145<li>I->F at 31081, MIM: 604145<li>R->C at 31107, MIM: 604145<li>A->G at 31124, MIM: 604145<li>N->S at 31156, MIM: 604145<li>P->T at 31246, MIM: 604145<li>R->H at 31330, MIM: 604145<li>C->R at 31690, MIM: 604145<li>R->Q at 31724, MIM: 604145<li>V->I at 31725, MIM: 604145<li>G->S at 31732, MIM: 604145<li>V->I at 31886, MIM: 604145<li>R->C at 32097, MIM: 604145<li>T->N at 32171: in a lung large cell carcinoma sample; somatic mutation, MIM: 604145<li>V->I at 32248, MIM: 604145<li>Q->H at 32281, MIM: 604145<li>R->H at 32323, MIM: 604145<li>R->W at 32411: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>I->V at 32558, MIM: 604145<li>M->V at 32610, MIM: 604145<li>G->V at 32637, MIM: 604145<li>V->A at 32922, MIM: 604145<li>L->R at 32943: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>R->H at 32953, MIM: 604145<li>R->Q at 32996: in CMD1G, MIM: 604145<li>V->L at 33213, MIM: 604145<li>R->C at 33242: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>T->M at 33387, MIM: 604145<li>E->D at 33419, MIM: 604145<li>V->M at 33536, MIM: 604145<li>K->Q at 33568, MIM: 604145<li>E->K at 33616, MIM: 604145<li>P->L at 33620, MIM: 604145<li>E->V at 33886, MIM: 604145<li>I->T at 33899, MIM: 604145<li>L->P at 33904: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145<li>T->I at 33955, MIM: 604145<li>V->A at 34115, MIM: 604145<li>I->N at 34306: in TMD, MIM: 600334<li>L->P at 34315: in TMD, MIM: 600334</ul>			binding	GO:0005488			<li>Q5RC94</li><li>Q14596</li><li>O70548</li><li>Q6T8D8</li><li>O15273</li>	<li>Tardive tibial muscular dystrophy (TMD) [MIM:600334]</li><li>Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]</li><li>Cardiomyopathy familial hypertrophic type 9 (CMH9) [MIM:188840]</li><li>Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]</li>	<li>rs55914517</li><li>rs35683768</li><li>rs2291311</li><li>rs56128843</li><li>rs55634230</li><li>rs4893853</li><li>rs1552280</li><li>rs4894048</li><li>rs56285559</li><li>rs16866531</li><li>rs36062108</li><li>rs56046320</li><li>rs56270960</li><li>rs33997263</li><li>rs16866538</li><li>rs2306636</li><li>rs12476289</li><li>rs35813871</li><li>rs56373393</li><li>rs34819099</li><li>rs28933405</li><li>rs56142888</li><li>rs36021856</li><li>rs56404770</li><li>rs10497520</li><li>rs33917087</li>	2
Q8WZ55	7809	<ul><li>R->L at 8: in BS4; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER, MIM: 602522<li>R->W at 8: in BS4; completely abolishes CLCNKA activation, MIM: 602522<li>G->S at 10: in BS4; increases CLCNKA currents over those obtained with wild-type; still activates CLCNKA to an extent similar to that of wild-type; intracellular but some plasma membrane localization as well, MIM: 602522<li>G->R at 47: in BS4; atypical; might be due to a less severe loss of function, MIM: 602522</ul>	localization	GO:0051179			<li>intracellular</li><li>plasma membrane</li><li>ER</li>	<li>GO:0005622</li><li>GO:0005886</li><li>GO:0005783</li>	<li>P51803</li><li>P51800</li><li>P21466</li>	Bartter syndrome type 4 (BS4) [MIM:602522]		2
Q8WZ64	116984	<ul><li>Q->R at 1523: in dbSNP:rs4833069</ul>									rs4833069	2
Q8WZ69	143501	<ul><li>F->S at 100: in dbSNP:rs12795289</ul>									rs12795289	2
Q8WZ74	83992	<ul><li>Q->K at 1148: in dbSNP:rs10274022<li>L->V at 1213</ul>									rs10274022	2
Q8WZ75	54538	<ul><li>Q->P at 103: in dbSNP:rs4995424<li>R->Q at 669: in dbSNP:rs4408324</ul>									<li>rs4995424</li><li>rs4408324</li>	2
Q8WZ79	58511	<ul><li>K->R at 47: in dbSNP:rs3754274</ul>									rs3754274	2
Q8WZ84	283159	<ul><li>F->V at 102: in dbSNP:rs2510433<li>C->W at 127: in dbSNP:rs7107539<li>L->P at 194: in dbSNP:rs4936919</ul>									<li>rs4936919</li><li>rs7107539</li><li>rs2510433</li>	2
Q8WZ92	120065	<ul><li>G->R at 7: in dbSNP:rs1482804<li>N->D at 318: in dbSNP:rs7949771</ul>									<li>rs7949771</li><li>rs1482804</li>	2
Q8WZ94	120066	<ul><li>T->K at 158: in dbSNP:rs16932503<li>F->L at 251: in dbSNP:rs364427</ul>									<li>rs364427</li><li>rs16932503</li>	2
Q8WZA0	84328	<ul><li>G->D at 104: in dbSNP:rs2304778</ul>									rs2304778	2
Q8WZA1	55624	<ul><li>E->K at 223: in MEB; specific activity abolished in the membrane bound form but not the soluble form, MIM: 253280<li>E->V at 250: in dbSNP:rs17855359, MIM: 253280<li>R->H at 265: in MEB; found on the same allele as Q-311; could be a polymorphism, MIM: 253280<li>C->Y at 269: in MEB; specific activity abolished of the membrane bound form but not the soluble form, MIM: 253280<li>R->Q at 311: in MEB; found on the same allele as H-265; could be a polymorphism, MIM: 253280<li>W->S at 425: in MEB, MIM: 253280<li>R->C at 442: in MEB; dbSNP:rs28940869, MIM: 253280<li>C->Y at 490: in MEB, MIM: 253280<li>P->R at 493: in MEB; specific activity abolished: in dbSNP rsrs28942068, MIM: 253280<li>V->I at 504: in dbSNP:rs17102066, MIM: 253280<li>S->N at 550: in MEB, MIM: 253280<li>V->M at 623: in dbSNP:rs6659553, MIM: 253280</ul>					membrane	GO:0016020		Muscle-eye-brain disease (MEB) [MIM:253280]	<li>rs28940869</li><li>rs28942068</li><li>rs6659553</li><li>rs17102066</li><li>rs17855359</li>	2
Q92187	7903	<ul><li>E->G at 92: in a colorectal cancer sample; somatic mutation</ul>										2
Q92466	1643	<ul><li>M->T at 215: in dbSNP:rs4647750<li>K->E at 244: in XP-E; impairs DNA-binding of the UV-DDB complex, MIM: 278740<li>R->H at 273: in XP-E; impairs interaction with DDB1 and CUL4A, MIM: 278740<li>A->T at 293: in dbSNP:rs4647751, MIM: 278740</ul>			DNA-binding	GO:0003677			<li>Q16531</li><li>Q6QNU4</li><li>Q6E7D1</li><li>P33194</li><li>Q13619</li>	Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]	<li>rs4647751</li><li>rs4647750</li>	2
Q92481	7021	<ul><li>P->R at 73: in CHAR, MIM: 169100<li>R->C at 236: in CHAR, MIM: 169100<li>R->S at 236: in CHAR, MIM: 169100<li>A->D at 275: in CHAR, MIM: 169100<li>R->Q at 285: in CHAR, MIM: 169100<li>R->C at 300: in CHAR, MIM: 169100</ul>								Char syndrome (CHAR) [MIM:169100]		2
Q92482	360	<ul><li>V->M at 43: in dbSNP rsrs34942735</ul>									rs34942735	2
Q92484	10924	<ul><li>H->Y at 16: in dbSNP:rs12523814<li>P->S at 161: in dbSNP:rs28385609</ul>									<li>rs28385609</li><li>rs12523814</li>	2
Q92485	27293	<ul><li>R->H at 381: in dbSNP:rs34560878</ul>									rs34560878	2
Q92496	10877	<ul><li>G->E at 306: in dbSNP:rs10494745</ul>									rs10494745	2
Q92502	9754	<ul><li>G->S at 188: in a breast cancer sample; somatic mutation<li>E->K at 242: in a breast cancer sample; somatic mutation</ul>										2
Q92504	7922	<ul><li>D->N at 87: in dbSNP:rs34211188<li>G->R at 124: in dbSNP:rs35690712<li>E->G at 280: in dbSNP:rs1048778</ul>									<li>rs34211188</li><li>rs35690712</li><li>rs1048778</li>	2
Q92506	7923	<ul><li>V->L at 158: in a breast cancer sample; somatic mutation<li>H->R at 190: in dbSNP:rs34491699</ul>									rs34491699	2
Q92519	28951	<ul><li>H->R at 4: in dbSNP rsrs55813198</ul>									rs55813198	2
Q92521	9488	<ul><li>I->L at 68: in dbSNP:rs17851556<li>M->T at 162: in dbSNP:rs2290344<li>W->L at 299: in dbSNP:rs678892<li>L->S at 484: in dbSNP:rs17851554<li>S->G at 502: in dbSNP:rs652397<li>K->T at 551: in dbSNP:rs2444042</ul>									<li>rs17851554</li><li>rs2444042</li><li>rs2290344</li><li>rs678892</li><li>rs17851556</li><li>rs652397</li>	2
Q92523	1120	<ul><li>I->V at 66: in dbSNP:rs3213445<li>G->D at 320: in dbSNP:rs2269383<li>S->C at 427: in dbSNP:rs8142477<li>E->K at 531: in dbSNP:rs470117<li>S->Y at 664: in dbSNP:rs1804702</ul>									<li>rs3213445</li><li>rs1804702</li><li>rs8142477</li><li>rs470117</li><li>rs2269383</li>	2
Q92530	9491	<ul><li>F->C at 36: in dbSNP:rs1803415<li>H->R at 174: in dbSNP:rs2235587</ul>									<li>rs2235587</li><li>rs1803415</li>	2
Q92535	5279	<ul><li>P->S at 266: in dbSNP:rs1063412</ul>									rs1063412	2
Q92538	8729	<ul><li>G->S at 1693: in dbSNP:rs11191274</ul>									rs11191274	2
Q92539	9663	<ul><li>S->L at 734: in Majeed syndrome, MIM: 609628</ul>								Majeed syndrome [MIM:609628]		2
Q92540	9887	<ul><li>S->F at 627: in dbSNP:rs34221194<li>V->I at 900: in dbSNP:rs2298083</ul>									<li>rs2298083</li><li>rs34221194</li>	2
Q92542	23385	<ul><li>V->I at 75: in dbSNP:rs12045198<li>E->D at 77: in dbSNP:rs35603924</ul>									<li>rs35603924</li><li>rs12045198</li>	2
Q92552	23107	<ul><li>G->D at 284: in dbSNP:rs3209157</ul>									rs3209157	2
Q92560	8314	<ul><li>V->E at 616: in dbSNP:rs35353781</ul>									rs35353781	2
Q92561	9796	<ul><li>R->S at 21: in dbSNP:rs11547660</ul>									rs11547660	2
Q92562	9896	<ul><li>I->T at 41: in CMT4J, MIM: 611228<li>D->G at 48, MIM: 611228<li>D->Y at 53: in ALS11, MIM: 612577<li>M->L at 364: in dbSNP:rs2295837, MIM: 612577<li>R->G at 388, MIM: 612577<li>I->V at 411, MIM: 612577<li>Y->C at 647, MIM: 612577<li>V->A at 654: in dbSNP:rs9885672, MIM: 612577<li>I->T at 902, MIM: 612577</ul>								<li>Amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]</li><li>Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]</li>	<li>rs9885672</li><li>rs2295837</li>	2
Q92563	9806	<ul><li>G->S at 353: in dbSNP:rs2306322</ul>									rs2306322	2
Q92569		<ul><li>K->N at 283: in dbSNP:rs785467</ul>									rs785467	2
Q92574	7248	<ul><li>E->D at 51: in TSC; could be a polymorphism, MIM: 191100<li>H->R at 68: in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2, MIM: 191100<li>L->P at 72: in TSC, MIM: 191100<li>F->C at 158: in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2, MIM: 191100<li>R->S at 190, MIM: 191100<li>L->H at 191: in TSC; could be a polymorphism, MIM: 191100<li>NF->I at 198-199: in TSC, MIM: 191100<li>H->D at 206: in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2, MIM: 191100<li>F->L at 216: in a bladder tumor; diffuse punctate cytoplasmic distribution in aminoacid-starved conditions; does not affect interaction with TSC2, MIM: 191100<li>M->R at 224: in TSC; could be a polymorphism, MIM: 191100<li>M->T at 322: in dbSNP:rs1073123, MIM: 191100<li>T->I at 417: in TSC; could be a polymorphism; does not affect interaction with TSC2, MIM: 191100<li>R->Q at 500: in TSC, MIM: 191100<li>E->D at 577, MIM: 191100<li>CKIP->S at 586-589: in TSC, MIM: 191100<li>K->R at 587: in TSC; could be a polymorphism, MIM: 191100<li>Q->E at 654: in TSC, MIM: 191100<li>A->E at 726: in TSC, MIM: 191100<li>H->Y at 732: in FCDBC; could be a polymorphism, MIM: 607341<li>E->Q at 809, MIM: 607341<li>S->R at 829, MIM: 607341<li>T->S at 899: in TSC, MIM: 191100<li>G->S at 1035, MIM: 191100<li>G->S at 1108, MIM: 191100</ul>							<li>Q92574</li><li>P55017</li><li>P49815</li><li>Q9JKL5</li><li>Q96BS2</li><li>P55019</li>	<li>Tuberous sclerosis complex (TSC) [MIM:191100]</li><li>Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]</li>	rs1073123	2
Q92575	23190	<ul><li>S->R at 458: in dbSNP:rs2304602</ul>									rs2304602	2
Q92576	23469	<ul><li>V->I at 525: in dbSNP:rs34288820<li>H->Y at 1834: in dbSNP:rs3734881</ul>									<li>rs34288820</li><li>rs3734881</li>	2
Q92583	6361	<ul><li>K->N at 5: in dbSNP:rs34693308<li>V->M at 67: in dbSNP:rs34379253</ul>									<li>rs34693308</li><li>rs34379253</li>	2
Q92585	9794	<ul><li>S->N at 1007: in dbSNP:rs6895902</ul>									rs6895902	2
Q92597	10397	<ul><li>M->V at 67: in dbSNP:rs2233319<li>M->L at 111: in dbSNP:rs2233328</ul>									<li>rs2233328</li><li>rs2233319</li>	2
Q92600	9125	<ul><li>I->T at 143: in dbSNP:rs17856204</ul>									rs17856204	2
Q92608	1794	<ul><li>D->A at 1558: in dbSNP:rs13179480<li>S->T at 1746: in dbSNP:rs2270898<li>T->S at 1779: in dbSNP:rs2270898</ul>									<li>rs2270898</li><li>rs13179480</li>	2
Q92609	9779	<ul><li>I->V at 696: in dbSNP:rs1138454</ul>									rs1138454	2
Q92610	9640	<ul><li>S->N at 926: in dbSNP:rs8182086</ul>									rs8182086	2
Q92614	399687	<ul><li>A->V at 958: in dbSNP:rs8076604</ul>									rs8076604	2
Q92618	9658	<ul><li>N->S at 4: in dbSNP:rs3752097<li>G->S at 239: in dbSNP:rs12961584</ul>									<li>rs3752097</li><li>rs12961584</li>	2
Q92619	23526	<ul><li>R->H at 139: in allele HA-1H; induction of CTL recognition for epitope HA-1; dbSNP:rs1801284<li>E->D at 259: in dbSNP:rs2074442<li>S->G at 439: in dbSNP:rs7251797<li>M->I at 515: in dbSNP:rs36084354<li>A->P at 886: in dbSNP:rs34569196</ul>							P41416		<li>rs34569196</li><li>rs2074442</li><li>rs7251797</li><li>rs1801284</li><li>rs36084354</li>	2
Q92620	9785	<ul><li>T->A at 1217</ul>										2
Q92621	23165	<ul><li>P->S at 33: in dbSNP:rs7797639<li>Q->E at 1356: in dbSNP:rs7810767</ul>									<li>rs7797639</li><li>rs7810767</li>	2
Q92624	10513	<ul><li>S->N at 561: in dbSNP:rs34146848</ul>									rs34146848	2
Q92625	23294	<ul><li>A->D at 355: in dbSNP:rs6930932<li>L->S at 694: in dbSNP:rs820085</ul>									<li>rs820085</li><li>rs6930932</li>	2
Q92626	7837	<ul><li>R->Q at 1198: in dbSNP:rs6723697<li>Q->R at 1261: in dbSNP:rs6723697</ul>									rs6723697	2
Q92629	6444	<ul><li>R->Q at 96: in dbSNP:rs1801194<li>S->A at 150: in CMD1L, MIM: 606685<li>E->K at 261: in LGMD2F, MIM: 601287</ul>								<li>Cardiomyopathy dilated type 1L (CMD1L) [MIM:606685]</li><li>Limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]</li>	rs1801194	2
Q92630	8445	<ul><li>S->G at 98: in dbSNP rsrs35139851<li>P->L at 198: in a glioblastoma multiforme sample; somatic mutation<li>H->N at 245: in dbSNP:rs34166200<li>N->S at 295: in dbSNP rsrs56293072<li>R->Q at 451: in dbSNP rsrs35688869<li>F->Y at 455: in dbSNP rsrs55774594</ul>									<li>rs35139851</li><li>rs34166200</li><li>rs35688869</li><li>rs56293072</li><li>rs55774594</li>	2
Q92633	1902	<ul><li>N->S at 77: in dbSNP:rs11542862</ul>									rs11542862	2
Q92636	8439	<ul><li>Y->C at 626: in dbSNP:rs2228505<li>R->T at 850: in dbSNP:rs1131173</ul>									<li>rs2228505</li><li>rs1131173</li>	2
Q92643	10026	<ul><li>T->A at 16: in dbSNP:rs12723684</ul>									rs12723684	2
Q92664	2971	<ul><li>V->L at 245: in dbSNP:rs7323</ul>									rs7323	2
Q92665	10240	<ul><li>T->M at 241: in dbSNP:rs1854421</ul>									rs1854421	2
Q92667	8165	<ul><li>A->V at 18: in dbSNP:rs17761023<li>V->M at 60: in dbSNP:rs2230770<li>C->Y at 102: in dbSNP:rs2230771<li>R->C at 124: in dbSNP:rs17833723</ul>									<li>rs17833723</li><li>rs17761023</li><li>rs2230771</li><li>rs2230770</li>	2
Q92673	6653	<ul><li>L->S at 120: in a breast cancer sample; somatic mutation<li>A->T at 528: in dbSNP:rs2298813<li>E->Q at 1074: in dbSNP:rs1699107<li>M->L at 1581: in a breast cancer sample; somatic mutation<li>I->V at 1967: in dbSNP:rs1792120<li>L->V at 1972: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2298813</li><li>rs1699107</li><li>rs1792120</li>	2
Q92681	6248	<ul><li>F->L at 62: in dbSNP:rs3766163<li>C->W at 191: in dbSNP:rs34091519<li>N->S at 271: in dbSNP:rs3738648</ul>									<li>rs3766163</li><li>rs34091519</li><li>rs3738648</li>	2
Q92685	10195	<ul><li>I->V at 107: in dbSNP:rs2233463<li>G->D at 118: in CDG1D; dbSNP:rs28940588, MIM: 601110<li>R->Q at 171: in CDG1D, MIM: 601110</ul>								Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]	<li>rs2233463</li><li>rs28940588</li>	2
Q92696	5875	<ul><li>T->A at 420: in dbSNP:rs729421</ul>									rs729421	2
Q92698	8438	<ul><li>D->G at 21: in dbSNP rsrs28363192<li>P->H at 63: in a colon adenocarcinoma<li>I->M at 74: in dbSNP rsrs28363209<li>K->E at 151: in dbSNP:rs2295466<li>R->C at 202: in dbSNP rsrs28363218<li>G->R at 325: in breast cancer; invasive ductal<li>R->Q at 380: in dbSNP rsrs28363234<li>V->E at 444: in lymphoma; non-Hodgkin's<li>R->C at 534: in dbSNP rsrs28363240<li>I->T at 583: in dbSNP rsrs28363243</ul>									<li>rs28363240</li><li>rs28363192</li><li>rs28363234</li><li>rs28363243</li><li>rs28363218</li><li>rs28363209</li><li>rs2295466</li>	2
Q92729	10076	<ul><li>T->N at 60: in dbSNP:rs35332573<li>R->L at 471: in dbSNP:rs35745442<li>H->Y at 830: in a colorectal cancer sample; somatic mutation<li>R->W at 835: in a colorectal cancer sample; somatic mutation<li>R->C at 856: in a colorectal cancer sample; somatic mutation<li>N->S at 940: in dbSNP:rs2235937</ul>									<li>rs35745442</li><li>rs35332573</li><li>rs2235937</li>	2
Q92730	27289	<ul><li>P->R at 44: in dbSNP:rs2270577</ul>									rs2270577	2
Q92733	5546	<ul><li>P->S at 136: in dbSNP:rs11264542</ul>									rs11264542	2
Q92734	10342	<ul><li>A->S at 149: in a colorectal cancer sample; somatic mutation<li>A->V at 211: in dbSNP:rs430945<li>T->P at 364: in dbSNP:rs6772054</ul>									<li>rs430945</li><li>rs6772054</li>	2
Q92736		<ul><li>P->S at 162: in CPVT1, MIM: 604772<li>R->Q at 174: in ARVD2 and CPVT1, MIM: 600996<li>R->L at 412: in CPVT1, MIM: 604772<li>I->F at 417: in CPVT1, MIM: 604772<li>R->W at 418: in CPVT1, MIM: 604772<li>L->P at 431: in ARVD2 and CPVT1, MIM: 600996<li>V->I at 505: in dbSNP:rs16835270, MIM: 600996<li>G->S at 1884: in dbSNP:rs3766871, MIM: 600996<li>S->L at 2244: in CPVT1, MIM: 604772<li>V->I at 2304: in CPVT1, MIM: 604772<li>E->D at 2309: in CPVT1, MIM: 604772<li>P->S at 2326: in FPVT, MIM: 192605<li>N->I at 2384: in ARVD2 and CPVT1, MIM: 600996<li>A->P at 2385: in CPVT1, MIM: 604772<li>Y->C at 2390: in CPVT1, MIM: 604772<li>A->T at 2401: in CPVT1, MIM: 604772<li>R->S at 2472: in CPVT1, MIM: 604772<li>T->M at 2502: in ARVD2 and CPVT1, MIM: 600996<li>Q->R at 2956: in dbSNP:rs34967813, MIM: 600996<li>L->F at 3776: in CPVT1, MIM: 604772<li>G->S at 3944: in CPVT1, MIM: 604772<li>N->S at 4095: in CPVT1, MIM: 604772<li>N->K at 4102: in CPVT1, MIM: 604772<li>E->K at 4144: in CPVT1, MIM: 604772<li>T->P at 4156: in CPVT1, MIM: 604772<li>Q->R at 4199: in FPVT, MIM: 192605<li>R->C at 4495: in CPVT1, MIM: 604772<li>F->C at 4497: in CPVT1, MIM: 604772<li>M->I at 4502: in CPVT1, MIM: 604772<li>A->T at 4508: in CPVT1, MIM: 604772<li>A->P at 4605: in CPVT1, MIM: 604772<li>V->F at 4651: in FPVT, MIM: 192605<li>G->R at 4669: in CPVT1, MIM: 604772<li>V->I at 4769: in CPVT1, MIM: 604772<li>I->V at 4846: in CPVT1, MIM: 604772<li>A->G at 4858: in CPVT1; diminishes the response to activation by luminal Ca, MIM: 604772<li>I->M at 4865: in CPVT1, MIM: 604772<li>V->A at 4878: in CPVT1, MIM: 604772<li>N->D at 4893: in CPVT1, MIM: 604772<li>P->L at 4900: in CPVT1, MIM: 604772<li>E->K at 4948: in CPVT1, MIM: 604772<li>R->Q at 4957: in CPVT1, MIM: 604772</ul>								<li>Familial arrhythmogenic right ventricular dysplasia 2 (ARVD2) [MIM:600996]</li><li>Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]</li><li>Familial polymorphic ventricular tachycardia (FPVT) [MIM:192605]</li>	<li>rs3766871</li><li>rs16835270</li><li>rs34967813</li>	2
Q92750	6875	<ul><li>I->V at 249: in dbSNP:rs16942219</ul>									rs16942219	2
Q92752	7143	<ul><li>V->I at 17: in dbSNP:rs859398<li>A->S at 128: in dbSNP:rs2239819<li>G->S at 293: in dbSNP:rs3752516<li>R->K at 643: in dbSNP:rs859427</ul>									<li>rs859427</li><li>rs3752516</li><li>rs859398</li><li>rs2239819</li>	2
Q92759	2968	<ul><li>R->Q at 337: in dbSNP:rs3218820</ul>									rs3218820	2
Q92765	2487	<ul><li>R->W at 200: in dbSNP:rs288326<li>R->G at 324: in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775</ul>									<li>rs7775</li><li>rs288326</li>	2
Q92766	6239	<ul><li>G->R at 195: in dbSNP:rs1334576<li>G->V at 783: in dbSNP:rs9502564<li>D->N at 1171: in dbSNP:rs9379084<li>G->R at 1384: in dbSNP:rs2281833<li>L->P at 1467: in dbSNP:rs2256596<li>S->Y at 1499: in dbSNP:rs35742417</ul>									<li>rs1334576</li><li>rs35742417</li><li>rs2256596</li><li>rs9502564</li><li>rs2281833</li><li>rs9379084</li>	2
Q92769	3066	<ul><li>R->C at 230: in dbSNP:rs1042903<li>Y->H at 315: in dbSNP:rs17852888</ul>									<li>rs17852888</li><li>rs1042903</li>	2
Q92772	8999	<ul><li>Y->S at 77: in dbSNP:rs35921414<li>L->I at 98: in an ovarian papillary serous adenocarcinoma sample; somatic mutation<li>I->T at 132: in dbSNP:rs17000707<li>R->Q at 149: in an ovarian mucinous carcinoma sample; somatic mutation<li>M->T at 197: in dbSNP rsrs56343717<li>A->V at 411: in dbSNP rsrs56231363</ul>									<li>rs17000707</li><li>rs56231363</li><li>rs56343717</li><li>rs35921414</li>	2
Q92781	5959	<ul><li>R->Q at 21: in dbSNP:rs3138143<li>I->V at 33<li>G->S at 35: in FA, MIM: 136880<li>R->G at 70: in dbSNP:rs1058635, MIM: 136880<li>S->F at 73: in FA, MIM: 136880<li>G->R at 107: in FA; associated with macular dystrophy, MIM: 136880<li>V->M at 132: in FA, MIM: 136880<li>V->F at 164: in FA, MIM: 136880<li>V->G at 177: in FA, MIM: 136880<li>G->W at 238: in FA, MIM: 136880<li>C->W at 267: in FA, MIM: 136880<li>R->H at 280: in FA, MIM: 136880<li>Y->H at 281: in FA, MIM: 136880<li>A->P at 294: in FA, MIM: 136880<li>L->EV at 310: in FA, MIM: 136880</ul>								Fundus albipunctatus (FA) [MIM:136880]	<li>rs1058635</li><li>rs3138143</li>	2
Q92783	8027	<ul><li>G->D at 212: in a colorectal cancer sample; somatic mutation</ul>										2
Q92784	8110	<ul><li>R->H at 177: in dbSNP:rs17855717</ul>									rs17855717	2
Q92786	5629	<ul><li>H->R at 584: in dbSNP:rs12121210</ul>									rs12121210	2
Q92791	10609	<ul><li>Q->R at 186: in dbSNP:rs13412</ul>									rs13412	2
Q92793	1387	<ul><li>Y->C at 1175: in RSTS; mild form; dbSNP:rs28937315, MIM: 180849<li>E->K at 1278: in RSTS; abolishes acetyltransferase activity, MIM: 180849<li>R->P at 1378: in RSTS; abolishes acetyltransferase activity and the ability of transactivate CREB, MIM: 180849<li>V->I at 1414: in dbSNP:rs130015, MIM: 180849<li>T->I at 1447: in RSTS, MIM: 180849<li>Y->H at 1450: in RSTS, MIM: 180849<li>H->R at 1470: in RSTS, MIM: 180849<li>R->H at 1664: in RSTS; abolishes acetyltransferase activity, MIM: 180849</ul>							<li>P16966</li><li>P51984</li><li>P15337</li><li>P51985</li><li>P27925</li><li>Q01147</li><li>P16220</li>	Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	<li>rs28937315</li><li>rs130015</li>	2
Q92794	7994	<ul><li>L->S at 134: in dbSNP:rs3824276</ul>									rs3824276	2
Q92796	1741	<ul><li>G->R at 40: in a colorectal cancer sample; somatic mutation</ul>										2
Q92802	10443	<ul><li>Y->H at 272: in dbSNP:rs34062461</ul>									rs34062461	2
Q92805	2800	<ul><li>N->S at 220: in dbSNP:rs35237091<li>V->L at 317: in dbSNP:rs583134<li>M->T at 425: in dbSNP:rs634710</ul>									<li>rs583134</li><li>rs35237091</li><li>rs634710</li>	2
Q92806	3765	<ul><li>A->V at 366: in dbSNP:rs3001040</ul>									rs3001040	2
Q92813	1734	<ul><li>A->D at 81: in dbSNP:rs2839859<li>T->A at 92: in dbSNP:rs225014</ul>									<li>rs2839859</li><li>rs225014</li>	2
Q92817	2125	<ul><li>N->S at 49: in dbSNP:rs570145<li>Q->R at 433: in dbSNP:rs2071192</ul>									<li>rs2071192</li><li>rs570145</li>	2
Q92820	8836	<ul><li>C->R at 6: in dbSNP:rs1800909<li>A->T at 31: in dbSNP:rs11545077<li>T->I at 151: in dbSNP:rs11545078</ul>									<li>rs11545077</li><li>rs11545078</li><li>rs1800909</li>	2
Q92823	4897	<ul><li>P->A at 545: in dbSNP:rs6958498<li>H->P at 1093: in a breast cancer sample; somatic mutation<li>G->V at 1116: in a breast cancer sample; somatic mutation</ul>									rs6958498	2
Q92826	10481	<ul><li>T->M at 41</ul>										2
Q92828	7464	<ul><li>R->H at 296: in dbSNP:rs2231666<li>R->L at 495: in dbSNP:rs35787916</ul>									<li>rs2231666</li><li>rs35787916</li>	2
Q92831	8850	<ul><li>N->S at 386: in dbSNP:rs17006625</ul>									rs17006625	2
Q92832	4745	<ul><li>Q->R at 82: in dbSNP:rs8176785<li>F->V at 211: in dbSNP:rs35809043<li>V->I at 287: in dbSNP:rs11820003<li>R->W at 354: in dbSNP:rs8176786<li>C->F at 553: in a colorectal cancer sample; somatic mutation</ul>									<li>rs11820003</li><li>rs8176786</li><li>rs8176785</li><li>rs35809043</li>	2
Q92834	6103	<ul><li>G->E at 43: in RP3, MIM: 300389<li>G->R at 43: in RP3, MIM: 300389<li>G->V at 60: in RP3, MIM: 300389<li>I->V at 75: in RP3; could be a polymorphism, MIM: 300389<li>S->I at 76: in dbSNP:rs1801685, MIM: 300389<li>H->Q at 98: in RP3, MIM: 300389<li>T->N at 99: in RP3, MIM: 300389<li>R->G at 127: in RP3, MIM: 300389<li>F->C at 130: in RP3, MIM: 300389<li>S->L at 152: in RP3, MIM: 300389<li>G->R at 173: in RP3 and RPDSI, MIM: 300455<li>Q->H at 184: in dbSNP:rs5963403, MIM: 300455<li>G->V at 215: in RP3, MIM: 300389<li>P->S at 235: in RP3, MIM: 300389<li>C->R at 250: in RP3, MIM: 300389<li>C->Y at 250: in RP3, MIM: 300389<li>Missing  at 258: in RP3, MIM: 300389<li>A->G at 262: in RP3; could be a polymorphism, MIM: 300389<li>G->E at 267: in RP3, MIM: 300389<li>G->R at 267: in RP3, MIM: 300389<li>G->S at 275: in RP3, MIM: 300389<li>E->G at 285: in RP3, MIM: 300389<li>I->V at 289: in RP3, MIM: 300389<li>Missing  at 296-300: in RP3, MIM: 300389<li>C->R at 302: in RP3, MIM: 300389<li>C->Y at 302: in RP3, MIM: 300389<li>D->N at 312: in RP3, MIM: 300389<li>D->Y at 312: in RP3, MIM: 300389<li>G->R at 320: in RP3, MIM: 300389<li>N->D at 345: rare polymorphism; dbSNP:rs41305223, MIM: 300389<li>R->K at 425: in dbSNP:rs1801687, MIM: 300389<li>I->V at 431, MIM: 300389<li>G->D at 436: in RP3, MIM: 300389<li>Missing at 526, MIM: 300389<li>T->M at 533: in dbSNP:rs41312104, MIM: 300389<li>G->E at 566: in dbSNP:rs1801688, MIM: 300389</ul>							<li>Q9UPY8</li><li>Q6PER3</li><li>Q92834</li><li>Q5XIT1</li>	<li>Retinitis pigmentosa type 3 (RP3) [MIM:300389]</li><li>X-linked retinitis pigmentosa with deafness and sinorespiratory infections (RPDSI) [MIM:300455]</li>	<li>rs1801685</li><li>rs41305223</li><li>rs1801687</li><li>rs1801688</li><li>rs41312104</li><li>rs5963403</li>	2
Q92835	3635	<ul><li>V->E at 685: in one patient with acute myeloid leukemya; somatic mutation</ul>										2
Q92838	1896	<ul><li>H->Y at 54: in ED1, MIM: 305100<li>L->R at 55: in ED1, MIM: 305100<li>C->R at 60: in ED1, MIM: 305100<li>Y->H at 61: in ED1, MIM: 305100<li>E->K at 63: in ED1, MIM: 305100<li>R->G at 65: in hypodontia, MIM: 300606<li>R->L at 69: in ED1, MIM: 305100<li>P->L at 118: in a colorectal cancer sample; somatic mutation, MIM: 305100<li>R->C at 153: in ED1, MIM: 305100<li>R->C at 155: in ED1; abolishes proteolytic processing, MIM: 305100<li>R->C at 156: in ED1; abolishes proteolytic processing, MIM: 305100<li>R->H at 156: in ED1; abolishes proteolytic processing, MIM: 305100<li>R->S at 156: in ED1, MIM: 305100<li>K->N at 158: in ED1, MIM: 305100<li>Missing  at 183-194: in ED1, MIM: 305100<li>Missing  at 184-189: in ED1, MIM: 305100<li>Missing  at 185-196: in ED1, MIM: 305100<li>G->E at 189: in ED1, MIM: 305100<li>Missing  at 191-196: in ED1, MIM: 305100<li>G->A at 198: in ED1, MIM: 305100<li>G->R at 207: in ED1, MIM: 305100<li>P->L at 209: in ED1, MIM: 305100<li>Missing  at 218-223: in ED1, MIM: 305100<li>G->D at 218: in ED1, MIM: 305100<li>G->A at 224: in ED1, MIM: 305100<li>H->L at 252: in ED1, MIM: 305100<li>H->Y at 252: in ED1, MIM: 305100<li>G->C at 255: in ED1, MIM: 305100<li>G->D at 255: in ED1; mild, MIM: 305100<li>G->V at 269: in ED1, MIM: 305100<li>W->G at 274: in ED1, MIM: 305100<li>G->R at 291: in ED1, MIM: 305100<li>G->W at 291: in ED1, MIM: 305100<li>D->H at 298: in ED1, MIM: 305100<li>D->Y at 298: in ED1, MIM: 305100<li>G->S at 299: in ED1, MIM: 305100<li>F->S at 302: in ED1, MIM: 305100<li>Q->H at 306: in ED1, MIM: 305100<li>V->G at 307: in ED1, MIM: 305100<li>Y->C at 320: in ED1, MIM: 305100<li>C->Y at 332: in ED1, MIM: 305100<li>Y->C at 343: in ED1, MIM: 305100<li>A->T at 349: in ED1, MIM: 305100<li>A->D at 356: in ED1, MIM: 305100<li>R->P at 357: in ED1, MIM: 305100<li>Q->E at 358: in ED1, MIM: 305100<li>I->N at 360: in ED1, MIM: 305100<li>N->D at 372: in ED1, MIM: 305100<li>M->I at 373: in ED1, MIM: 305100<li>S->R at 374: in ED1, MIM: 305100<li>T->M at 378: in ED1, MIM: 305100<li>T->P at 378: in ED1, MIM: 305100</ul>							<li>Q92838</li><li>Q9BEG5</li>	<li>Ectodermal dysplasia, type 1 (ED1) [MIM:305100]</li><li>Hypodontia [MIM:300606]</li>		2
Q92839	3036	<ul><li>C->R at 14: in dbSNP:rs7248778</ul>									rs7248778	2
Q92843	599	<ul><li>R->Q at 133: in dbSNP:rs910332</ul>									rs910332	2
Q92844	10010	<ul><li>G->R at 292: in dbSNP:rs10183668<li>P->L at 358: in dbSNP:rs2229759<li>R->Q at 394: in dbSNP:rs3769969</ul>									<li>rs2229759</li><li>rs10183668</li><li>rs3769969</li>	2
Q92845	22920	<ul><li>S->A at 513: in dbSNP:rs12075833</ul>									rs12075833	2
Q92847	2693	<ul><li>T->I at 5: in dbSNP:rs2232165<li>A->E at 204: in short stature; idiopathic autosomal; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin, MIM: 604271</ul>					cell-surface	GO:0009928,GO:0009986	<li>Q9EQX0</li><li>Q9BDJ6</li><li>Q6BEG6</li><li>Q9UBU3</li><li>Q9BEF8</li><li>Q6BEG7</li><li>Q9QYH7</li><li>Q9GKY5</li>	Short stature [MIM:604271]	rs2232165	2
Q92851	843	<ul><li>M->T at 147: in gastric cancer; somatic mutation; impairs CASP10-mediated apoptosis<li>S->C at 239: in dbSNP rsrs41473647<li>L->F at 285: in ALPS2A; dbSNP:rs17860403, MIM: 603909<li>I->L at 406: in ALPS2A; the mutant protein has defective apoptosis and exerts a dominant-negative effect when cotransfected with the wild-type protein, MIM: 603909<li>V->I at 410: does not interfere with apoptosis in a dominant negative manner; dbSNP:rs13010627, MIM: 603909<li>A->V at 414: in NHL; somatic mutation; dbSNP:rs28936699, MIM: 605027<li>P->S at 444: in dbSNP rsrs41513147, MIM: 605027<li>Y->C at 446: associated with ALPS2A; does not interfere with apoptosis in a dominant negative manner; dbSNP:rs17860405, MIM: 605027</ul>	apoptosis	GO:0006915					<li>Q13427</li><li>Q92851</li><li>Q9NZ71</li>	<li>Familial non-Hodgkin lymphoma (NHL) [MIM:605027]</li><li>Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]</li>	<li>rs17860405</li><li>rs41513147</li><li>rs17860403</li><li>rs13010627</li><li>rs28936699</li><li>rs41473647</li>	2
Q92854	10507	<ul><li>A->T at 72: in dbSNP:rs13284404</ul>									rs13284404	2
Q92858	474	<ul><li>H->Q at 237: in dbSNP:rs35182771</ul>									rs35182771	2
Q92859	4756	<ul><li>P->L at 534: in dbSNP:rs4467039</ul>									rs4467039	2
Q92878	10111	<ul><li>I->L at 94: in dbSNP:rs28903085<li>V->I at 127: in dbSNP:rs28903086<li>T->I at 191: in dbSNP:rs2230017<li>R->W at 193: in dbSNP:rs28903087<li>R->H at 224: in dbSNP:rs28903088<li>V->L at 315: in dbSNP:rs28903090<li>K->E at 616: in dbSNP:rs1047380<li>V->A at 697: in dbSNP:rs1047382<li>V->A at 842: in dbSNP:rs28903093<li>Y->H at 964: in dbSNP:rs1047386<li>K->M at 973: in dbSNP:rs1129482<li>R->G at 1038: in dbSNP:rs1047387</ul>									<li>rs28903093</li><li>rs28903090</li><li>rs28903087</li><li>rs28903088</li><li>rs1047387</li><li>rs2230017</li><li>rs28903085</li><li>rs1047386</li><li>rs28903086</li><li>rs1129482</li><li>rs1047380</li><li>rs1047382</li>	2
Q92882	26578	<ul><li>N->S at 48: in dbSNP:rs2295862<li>L->F at 159: in dbSNP:rs17850197</ul>									<li>rs2295862</li><li>rs17850197</li>	2
Q92887	1244	<ul><li>F->Y at 39: in dbSNP:rs927344<li>M->L at 246: in dbSNP:rs45462493<li>S->N at 281: in dbSNP:rs56131651<li>D->G at 333: in dbSNP:rs17222674<li>R->H at 353: in dbSNP:rs7080681<li>V->I at 417: in dbSNP:rs2273697<li>K->E at 495: in dbSNP:rs17222561<li>F->L at 562: in dbSNP:rs17216233<li>I->T at 670<li>R->W at 768: in DJS; dbSNP:rs56199535, MIM: 237500<li>S->F at 789: in dbSNP:rs56220353, MIM: 237500<li>L->R at 849: in dbSNP:rs17222617, MIM: 237500<li>I->V at 982: in dbSNP:rs17222554, MIM: 237500<li>I->T at 1036: in dbSNP:rs45441199, MIM: 237500<li>N->S at 1063: in dbSNP:rs17222540, MIM: 237500<li>R->H at 1150: in DJS; protein is properly localized at the plasma membrane, but transport activity is impaired, MIM: 237500<li>I->F at 1173: in DJS; low expression and mislocation to the endoplasmic reticulum, MIM: 237500<li>R->L at 1181: in dbSNP:rs8187692, MIM: 237500<li>V->E at 1188: in dbSNP:rs17222723, MIM: 237500<li>T->A at 1273: in dbSNP:rs8187699, MIM: 237500<li>P->L at 1291: in dbSNP:rs17216317, MIM: 237500<li>Q->R at 1382: in DJS, MIM: 237500<li>Missing  at 1392-1393: in DJS; impaired maturation and intercompartmental trafficking, MIM: 237500<li>A->T at 1450: in dbSNP:rs56296335, MIM: 237500<li>C->Y at 1515: in dbSNP:rs8187710, MIM: 237500</ul>	transport	GO:0006810			<li>plasma membrane</li><li>endoplasmic reticulum</li>	<li>GO:0005886</li><li>GO:0005783</li>		Dubin-Johnson syndrome (DJS) [MIM:237500]	<li>rs2273697</li><li>rs8187692</li><li>rs45462493</li><li>rs45441199</li><li>rs7080681</li><li>rs8187699</li><li>rs17222723</li><li>rs56296335</li><li>rs56131651</li><li>rs17222674</li><li>rs17216233</li><li>rs56199535</li><li>rs56220353</li><li>rs927344</li><li>rs17222617</li><li>rs17222554</li><li>rs17222561</li><li>rs8187710</li><li>rs17216317</li><li>rs17222540</li>	2
Q92888	9138	<ul><li>M->V at 165: in a colorectal cancer sample; somatic mutation<li>P->L at 375: in dbSNP:rs2303797</ul>									rs2303797	2
Q92889	2072	<ul><li>R->P at 153: in XFE progeroid syndrome, MIM: 610965<li>A->V at 168: in dbSNP:rs2020961, MIM: 610965<li>I->M at 225: in XP-F, MIM: 278760<li>P->S at 379: in dbSNP:rs1799802, MIM: 278760<li>R->Q at 415: in dbSNP:rs1800067, MIM: 278760<li>R->W at 454: in XP-F, MIM: 278760<li>R->Q at 490: in XP-F, MIM: 278760<li>E->K at 502: in XP-F, MIM: 278760<li>G->R at 513: in XP-F, MIM: 278760<li>I->T at 529: in XP-F, MIM: 278760<li>T->A at 567: in XP-F, MIM: 278760<li>R->T at 576: in dbSNP:rs1800068, MIM: 278760<li>Missing  at 605-611: in XP-F, MIM: 278760<li>L->P at 608: in XP-F, MIM: 278760<li>S->P at 662: in dbSNP:rs2020955, MIM: 278760<li>G->D at 703, MIM: 278760<li>I->T at 706: in dbSNP:rs1800069, MIM: 278760<li>I->T at 717, MIM: 278760<li>R->W at 799: in XP-F; mild; significant residual repair activity, MIM: 278760<li>I->V at 873: in dbSNP rsrs2020957, MIM: 278760<li>E->G at 875: in dbSNP:rs1800124, MIM: 278760<li>G->E at 912: in dbSNP:rs2020956, MIM: 278760</ul>								<li>XFE progeroid syndrome [MIM:610965]</li><li>Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]</li>	<li>rs1800069</li><li>rs1800068</li><li>rs1800067</li><li>rs1799802</li><li>rs2020961</li><li>rs1800124</li><li>rs2020956</li><li>rs2020955</li><li>rs2020957</li>	2
Q92890	7353	<ul><li>P->A at 130: in dbSNP:rs17744624</ul>									rs17744624	2
Q92901	6123	<ul><li>P->L at 291: in dbSNP:rs34265469</ul>									rs34265469	2
Q92902	3257	<ul><li>Missing  at 55: in HPS1; mild<li>E->D at 100: in dbSNP:rs1801285<li>A->V at 186: in dbSNP:rs1801286<li>G->W at 283: in dbSNP:rs11592273<li>A->T at 480: in dbSNP:rs17109853<li>P->R at 491: in dbSNP:rs2296434<li>Q->R at 603: in dbSNP:rs2296436<li>V->I at 630</ul>							<li>Q60HF3</li><li>Q92902</li>		<li>rs17109853</li><li>rs2296436</li><li>rs2296434</li><li>rs11592273</li><li>rs1801286</li><li>rs1801285</li>	2
Q92903	1040	<ul><li>L->F at 99: in dbSNP:rs36068434<li>K->T at 204: in a breast cancer sample; somatic mutation</ul>									rs36068434	2
Q92904	1618	<ul><li>T->A at 12: common polymorphism; dbSNP:rs11710967<li>T->A at 54: in AZ; in some infertile Taiwanese men; this substitution may lead to affect the DAZL transcript stability and prevent its translation</ul>	translation	GO:0043037					<li>Q92904</li><li>Q95192</li><li>Q804A9</li><li>Q9BGN8</li>		rs11710967	2
Q92911	6528	<ul><li>G->R at 93: in CHDH1, MIM: 274400<li>A->P at 102, MIM: 274400<li>Q->E at 267: in CHDH1, MIM: 274400<li>C->G at 298: in dbSNP:rs8108188, MIM: 274400<li>T->P at 354: in CHDH1, MIM: 274400<li>G->R at 395: in CHDH1, MIM: 274400<li>T->Q at 536: requires 2 nucleotide substitutions, MIM: 274400<li>G->E at 543: in CHDH1, MIM: 274400<li>S->Q at 556: requires 2 nucleotide substitutions, MIM: 274400</ul>								Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	rs8108188	2
Q92913	2258	<ul><li>K->Q at 197: in dbSNP rsrs17510270</ul>									rs17510270	2
Q92914	2256	<ul><li>R->G at 163</ul>										2
Q92915	2259	<ul><li>G->C at 42<li>F->S at 145: in SCA27, MIM: 609307</ul>								Spinocerebellar ataxia type 27 (SCA27) [MIM:609307]		2
Q92918	11184	<ul><li>P->T at 312: in dbSNP rsrs55924696<li>P->S at 351: in dbSNP rsrs34591617<li>P->L at 361: in dbSNP rsrs56060067<li>S->F at 737: in a metastatic melanoma sample; somatic mutation<li>N->S at 811: in dbSNP:rs12975825</ul>									<li>rs55924696</li><li>rs56060067</li><li>rs12975825</li><li>rs34591617</li>	2
Q92922	6599	<ul><li>P->H at 1075: in dbSNP:rs3772406</ul>									rs3772406	2
Q92932	5799	<ul><li>S->T at 140: in dbSNP:rs3800855<li>S->P at 208: in dbSNP:rs1130495<li>R->H at 213: in dbSNP:rs1130496<li>S->N at 325: in dbSNP:rs1130499<li>V->M at 343: in dbSNP:rs3752368<li>L->H at 388: in dbSNP:rs7456452<li>E->K at 716: in a colorectal cancer sample; somatic mutation</ul>									<li>rs1130496</li><li>rs1130495</li><li>rs7456452</li><li>rs3752368</li><li>rs1130499</li><li>rs3800855</li>	2
Q92934	572	<ul><li>A->S at 107: in dbSNP:rs3729933</ul>									rs3729933	2
Q92935	2134	<ul><li>R->H at 163: in dbSNP:rs34277678<li>H->N at 379: in dbSNP:rs2736831</ul>									<li>rs34277678</li><li>rs2736831</li>	2
Q92947	2639	<ul><li>R->C at 88: in GA1, MIM: 231670<li>R->L at 94: in GA1, MIM: 231670<li>G->R at 101: in GA1, MIM: 231670<li>C->Y at 115: in GA1, MIM: 231670<li>A->V at 122: in GA1, MIM: 231670<li>R->G at 128: in GA1, MIM: 231670<li>R->G at 138: in GA1; impaired protein stability and loss of activity, MIM: 231670<li>S->L at 139: in GA1, MIM: 231670<li>V->I at 148: in GA1, MIM: 231670<li>R->Q at 161: in GA1, MIM: 231670<li>G->R at 178: in GA1, MIM: 231670<li>L->R at 179: in GA1, MIM: 231670<li>M->T at 191: in GA1, MIM: 231670<li>A->T at 195: in GA1, MIM: 231670<li>R->P at 227: in GA1, MIM: 231670<li>F->L at 236: in GA1, MIM: 231670<li>R->Q at 257: in GA1, MIM: 231670<li>R->W at 257: in GA1, MIM: 231670<li>M->V at 266: in GA1, MIM: 231670<li>P->S at 278: in GA1, MIM: 231670<li>L->P at 283: in GA1, MIM: 231670<li>A->T at 293: in GA1, MIM: 231670<li>R->W at 294: in GA1, MIM: 231670<li>Y->H at 295: in GA1, MIM: 231670<li>A->T at 298, MIM: 231670<li>A->V at 298, MIM: 231670<li>S->L at 305: in GA1, MIM: 231670<li>C->S at 308: in GA1, MIM: 231670<li>L->W at 309: in GA1, MIM: 231670<li>R->W at 313: in GA1, MIM: 231670<li>Q->E at 333: in GA1, MIM: 231670<li>A->T at 349: in GA1, MIM: 231670<li>G->R at 354: in GA1, MIM: 231670<li>G->S at 354: in GA1, MIM: 231670<li>R->C at 355: in GA1, MIM: 231670<li>R->H at 355: in GA1, MIM: 231670<li>E->K at 365: in GA1, MIM: 231670<li>C->R at 375: in GA1, MIM: 231670<li>A->T at 382: in GA1, MIM: 231670<li>R->C at 383: in GA1, MIM: 231670<li>R->H at 383: in GA1, MIM: 231670<li>R->Q at 386: in GA1, MIM: 231670<li>G->A at 390: in GA1, MIM: 231670<li>G->R at 390: in GA1, MIM: 231670<li>N->D at 392: in GA1, MIM: 231670<li>V->M at 400: in GA1, MIM: 231670<li>R->Q at 402: in GA1, MIM: 231670<li>R->W at 402: in GA1; most common mutation identified; loss of tetramerization and enzyme activity, MIM: 231670<li>H->R at 403: in GA1, MIM: 231670<li>N->K at 406: in GA1, MIM: 231670<li>L->P at 407: in GA1, MIM: 231670<li>E->K at 414: in GA1; loss of enzyme activity, MIM: 231670<li>T->I at 416: in GA1, MIM: 231670<li>A->T at 421: in GA1, MIM: 231670<li>A->V at 421: in GA1; impaired association of subunits, MIM: 231670<li>T->M at 429: in GA1, MIM: 231670<li>A->E at 433: in GA1, MIM: 231670</ul>							<li>P26981</li><li>P49084</li><li>P49083</li><li>Q86D96</li><li>Q38802</li><li>O04278</li>	Glutaric aciduria type 1 (GA1) [MIM:231670]		2
Q92953	9312	<ul><li>V->I at 450: in a colorectal cancer sample; somatic mutation<li>E->G at 657: in dbSNP:rs16938507</ul>									rs16938507	2
Q92954	10216	<ul><li>R->W at 180: in dbSNP:rs2273779<li>N->S at 1130: in dbSNP:rs10158395<li>I->T at 1272: in dbSNP:rs1293985<li>T->M at 1296: in dbSNP:rs12134934</ul>									<li>rs1293985</li><li>rs10158395</li><li>rs12134934</li><li>rs2273779</li>	2
Q92956	8764	<ul><li>K->R at 17: in dbSNP:rs4870<li>A->T at 117: in dbSNP:rs2234163<li>G->E at 174: in dbSNP:rs11573986<li>V->I at 241: in dbSNP:rs2234167</ul>									<li>rs11573986</li><li>rs2234163</li><li>rs4870</li><li>rs2234167</li>	2
Q92959	6578	<ul><li>A->T at 396: in dbSNP:rs34550074</ul>									rs34550074	2
Q92966	6619	<ul><li>E->A at 398: in dbSNP:rs3087653</ul>									rs3087653	2
Q92968	5194	<ul><li>I->T at 326: in NALD, MIM: 202370</ul>								Adrenoleukodystrophy neonatal (NALD) [MIM:202370]		2
Q92973	3842	<ul><li>D->E at 26: in dbSNP:rs25661</ul>									rs25661	2
Q92979	10436	<ul><li>A->G at 34: in dbSNP:rs11064480</ul>									rs11064480	2
Q92982	4814	<ul><li>D->A at 110: in dbSNP:rs2275848</ul>									rs2275848	2
Q92985	3665	<ul><li>K->E at 179: in dbSNP:rs1061502<li>Q->R at 412: in dbSNP:rs1131665</ul>									<li>rs1061502</li><li>rs1131665</li>	2
Q92990	11146	<ul><li>Missing  at 393: in GVMs</ul>										2
Q92994	2972	<ul><li>V->M at 542: in a colorectal cancer sample; somatic mutation</ul>										2
Q92997	1857	<ul><li>R->T at 216: in a breast cancer sample; somatic mutation<li>W->L at 433: in dbSNP:rs17853048</ul>									rs17853048	2
Q93015	24142	<ul><li>R->S at 145: in non-small cell lung cancer cell lines<li>T->S at 207: in non-small cell lung cancer cell lines</ul>										2
Q93033	9398	<ul><li>G->S at 157: in dbSNP:rs34999087<li>N->S at 225: in dbSNP:rs3754112<li>M->V at 415: in dbSNP:rs2249265<li>R->Q at 518: in dbSNP:rs17235766<li>S->R at 525: in dbSNP:rs17235773<li>T->S at 631: in dbSNP:rs34510762<li>R->Q at 933: in dbSNP:rs12093834<li>L->F at 955: in dbSNP:rs34223095<li>V->I at 965: in dbSNP:rs12097758<li>R->C at 988: in dbSNP:rs12067543<li>R->W at 992: in dbSNP:rs34248572</ul>									<li>rs34223095</li><li>rs34510762</li><li>rs3754112</li><li>rs17235773</li><li>rs2249265</li><li>rs12067543</li><li>rs12097758</li><li>rs12093834</li><li>rs17235766</li><li>rs34999087</li><li>rs34248572</li>	2
Q93038	8718	<ul><li>R->Q at 23: in dbSNP:rs35771371<li>D->G at 159: in dbSNP:rs11800462<li>P->R at 254: in dbSNP rsrs34529016<li>R->L at 370: in dbSNP:rs1064590<li>R->H at 381: in dbSNP:rs1059333</ul>									<li>rs1064590</li><li>rs35771371</li><li>rs1059333</li><li>rs34529016</li><li>rs11800462</li>	2
Q93052	4026	<ul><li>T->A at 146: in dbSNP:rs35417432<li>S->P at 259: in dbSNP:rs35940579<li>Y->H at 346: in dbSNP:rs7645635</ul>									<li>rs35940579</li><li>rs7645635</li><li>rs35417432</li>	2
Q93063	2132	<ul><li>M->V at 42: in dbSNP:rs4755779<li>C->R at 85: in EXT2, MIM: 133701<li>L->R at 152: in EXT2, MIM: 133701<li>R->S at 179: in EXT2, MIM: 133701<li>A->V at 202: in EXT2, MIM: 133701<li>R->P at 223: in EXT2, MIM: 133701<li>D->N at 227: in EXT2; can still form an oligomeric complex, MIM: 133701<li>I->T at 380: in EXT2, MIM: 133701<li>E->K at 576: in osteochondroma, MIM: 133701</ul>							<li>O77783</li><li>Q9M1G9</li><li>Q93063</li>	Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	rs4755779	2
Q93070	420	<ul><li>G->V at 108: in Hy1 and Hy2: in dbSNP rsrs28362797<li>T->I at 117: in Jo: in dbSNP rsrs28362798<li>D->E at 135: in dbSNP rsrs28362799<li>T->M at 189: in dbSNP rsrs28362800<li>N->D at 265: in Do: in dbSNP rsrs11276<li>L->V at 300: in Hy1: in dbSNP rsrs3088190</ul>									<li>rs11276</li><li>rs28362799</li><li>rs28362800</li><li>rs28362798</li><li>rs28362797</li><li>rs3088190</li>	2
Q93074	9968	<ul><li>R->W at 961: in OKS, MIM: 305450<li>N->S at 1007: in Lujan-Fryns syndrome, MIM: 309520<li>Q->R at 1392: in dbSNP:rs1139013, MIM: 309520</ul>								<li>Lujan-Fryns syndrome [MIM:309520]</li><li>Opitz-Kaveggia syndrome (OKS) [MIM:305450]</li>	rs1139013	2
Q93075	9797	<ul><li>H->R at 217: in dbSNP:rs2241314<li>V->I at 256: in dbSNP:rs394558<li>P->L at 358: in dbSNP:rs2075352</ul>									<li>rs2241314</li><li>rs394558</li><li>rs2075352</li>	2
Q93084	489	<ul><li>R->H at 674: in a breast cancer sample; somatic mutation<li>Q->H at 869: in dbSNP:rs11654827</ul>									rs11654827	2
Q93088	635	<ul><li>R->Q at 239: may decrease risk for coronary artery disease; dbSNP:rs3733890</ul>									rs3733890	2
Q93091	6039	<ul><li>R->Q at 89: in dbSNP:rs1045922</ul>									rs1045922	2
Q93098	7479	<ul><li>C->S at 11: in dbSNP:rs3793771<li>E->Q at 53: in a colorectal cancer sample; somatic mutation</ul>									rs3793771	2
Q93099	3081	<ul><li>L->P at 25: in AKU, MIM: 203500<li>E->A at 42: in AKU, MIM: 203500<li>W->G at 60: in AKU, MIM: 203500<li>Y->C at 62: in AKU, MIM: 203500<li>H->Q at 80: in dbSNP:rs2255543, MIM: 203500<li>W->G at 97: in AKU, MIM: 203500<li>A->D at 122: in AKU, MIM: 203500<li>D->G at 153: in AKU, MIM: 203500<li>G->R at 161: in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients: in dbSNP rsrs28941783, MIM: 203500<li>E->K at 168: in AKU; loss of activity, MIM: 203500<li>S->I at 189: in AKU, MIM: 203500<li>I->T at 216: in AKU, MIM: 203500<li>R->H at 225: in AKU, MIM: 203500<li>F->S at 227: in AKU, MIM: 203500<li>P->S at 230: in AKU; complete loss of activity: in dbSNP rsrs28942100, MIM: 203500<li>P->T at 230: in AKU, MIM: 203500<li>G->R at 270: in AKU, MIM: 203500<li>D->E at 291: in AKU, MIM: 203500<li>V->G at 300: in AKU, MIM: 203500<li>R->S at 330: in AKU, MIM: 203500<li>M->V at 368: in AKU; loss of activity, MIM: 203500<li>H->R at 371: in AKU, MIM: 203500</ul>								Alkaptonuria (AKU) [MIM:203500]	<li>rs28942100</li><li>rs28941783</li><li>rs2255543</li>	2
Q93100	5257	<ul><li>A->P at 118: in GSD9B, MIM: 261750<li>Q->K at 657: in dbSNP rsrs34667348, MIM: 261750<li>Y->C at 770: in dbSNP:rs16945474, MIM: 261750<li>E->V at 820: in dbSNP:rs9934849, MIM: 261750<li>L->V at 867: in a breast cancer sample; somatic mutation, MIM: 261750<li>G->R at 877: in a breast cancer sample; somatic mutation, MIM: 261750</ul>								Glycogen storage disease type 9B (GSD9B) [MIM:261750]	<li>rs34667348</li><li>rs16945474</li><li>rs9934849</li>	2
Q95365		<ul><li>S->A at 35: in allele B*3805<li>E->T at 69: in allele B*3806 and allele B*3807; requires 2 nucleotide substitutions<li>E->G at 82: in allele B*3807<li>N->E at 87: in allele B*3803 and allele B*3804; requires 2 nucleotide substitutions<li>C->F at 91: in allele B*3806 and allele B*3807<li>C->S at 91: in allele B*3803<li>Y->D at 98: in allele B*3803<li>N->S at 101: in allele B*3803<li>I->T at 104: in allele B*3802, allele B*3803, allele B*3804 and allele B*3808<li>T->M at 187: in allele B*3808</ul>										2
Q95460	3140	<ul><li>H->R at 39: in dbSNP:rs2236410<li>R->Q at 63: in dbSNP:rs3897433<li>A->V at 77: in dbSNP:rs3897434</ul>									<li>rs2236410</li><li>rs3897433</li><li>rs3897434</li>	2
Q95604		<ul><li>QA->RT at 7-8: in allele Cw*1702<li>L->I at 10: in allele Cw*1702<li>A->T at 24: in allele Cw*1703</ul>										2
Q969F0	89885	<ul><li>A->V at 10: common polymorphism; 16% of the population; infertile and fertile individuals; dbSNP:rs3810715<li>I->T at 34: in fertile and infertile individuals<li>S->R at 125: in fertile and infertile individuals</ul>									rs3810715	2
Q969F2	85409	<ul><li>T->K at 257: in dbSNP:rs35679233</ul>									rs35679233	2
Q969F8	84634	<ul><li>L->P at 102: in IHH; absence of inositol phosphate accumulation under kisspeptin challenge; normal affinity for kisspeptin, MIM: 146110<li>L->S at 148: in IHH; 65% reduction of inositol phosphate production; dbSNP:rs28939719, MIM: 146110<li>C->R at 223: in IHH; exhibit profoundly impaired signaling, MIM: 146110<li>R->L at 297: in IHH; mild reduction in ligand-stimulated activity across the ligand dose range, MIM: 146110<li>L->H at 364: in dbSNP:rs350132, MIM: 146110<li>R->P at 386: in central precocious puberty; reduced rate of decline in inositol phosphate accumulation after kisspeptin stimulation; prolonged phosphorylation of ERK, MIM: 176400</ul>	phosphorylation	GO:0016310					<li>Q98938</li><li>P79860</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P97812</li><li>P79711</li><li>P29323</li><li>Q91612</li><li>P79693</li>	<li>Central precocious puberty [MIM:176400]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li>	<li>rs350132</li><li>rs28939719</li>	2
Q969F9	84343	<ul><li>E->K at 275: in dbSNP:rs34388030<li>R->Q at 397: in a colorectal cancer sample; somatic mutation<li>R->W at 397: in HPS3; mild, MIM: 203300</ul>							Q969F9	Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:203300]	rs34388030	2
Q969G2	89884	<ul><li>N->S at 328: in dbSNP:rs7536561</ul>									rs7536561	2
Q969G5	112464	<ul><li>P->R at 8: in dbSNP:rs2682123<li>A->T at 104: in dbSNP:rs10839551<li>P->L at 158: in dbSNP:rs1051992<li>L->F at 255: in dbSNP:rs12294600</ul>									<li>rs10839551</li><li>rs2682123</li><li>rs1051992</li><li>rs12294600</li>	2
Q969H0	55294	<ul><li>E->K at 115: in dbSNP:rs6816935<li>E->K at 117: in a breast cancer sample; somatic mutation<li>R->G at 133: in dbSNP:rs6842544<li>T->R at 144: in dbSNP:rs7660281<li>R->C at 465: in a acute lymphoblastic leukemia cell line<li>R->H at 465: in a colorectal cancer sample; somatic mutation<li>R->L at 505: in an ovarian cancer cell line<li>S->L at 582: in a colorectal cancer sample; somatic mutation<li>S->G at 668: in dbSNP:rs7679116</ul>									<li>rs7679116</li><li>rs6842544</li><li>rs7660281</li><li>rs6816935</li>	2
Q969H9	116093	<ul><li>S->A at 51</ul>										2
Q969I6	55089	<ul><li>G->R at 29: in dbSNP:rs2429467<li>T->M at 366: in dbSNP:rs11183610</ul>									<li>rs2429467</li><li>rs11183610</li>	2
Q969J3	118426	<ul><li>S->C at 41: in dbSNP:rs3741795<li>D->N at 191: in dbSNP:rs3751262</ul>									<li>rs3751262</li><li>rs3741795</li>	2
Q969J5	116379	<ul><li>L->P at 16: in dbSNP:rs28385692<li>E->K at 190: in dbSNP rsrs28362173</ul>									<li>rs28362173</li><li>rs28385692</li>	2
Q969K7	113452	<ul><li>L->F at 110: in dbSNP:rs10914632</ul>									rs10914632	2
Q969L2	114569	<ul><li>A->T at 92: in dbSNP:rs2303398</ul>									rs2303398	2
Q969M1	84134	<ul><li>D->N at 100: in a colorectal cancer sample; somatic mutation</ul>										2
Q969N2	51604	<ul><li>A->T at 473: in dbSNP:rs36056071</ul>									rs36056071	2
Q969N4	83551	<ul><li>S->N at 153: in dbSNP:rs8192626<li>D->A at 328: in dbSNP:rs8192627</ul>									<li>rs8192627</li><li>rs8192626</li>	2
Q969P5	114907	<ul><li>N->S at 56: in dbSNP:rs6988591<li>G->A at 89: in dbSNP:rs11786471</ul>									<li>rs11786471</li><li>rs6988591</li>	2
Q969P6	116447	<ul><li>V->I at 256: in dbSNP:rs11544484<li>R->W at 525: in dbSNP:rs2293925</ul>									<li>rs2293925</li><li>rs11544484</li>	2
Q969Q0	6166	<ul><li>I->V at 66: in dbSNP:rs3088024</ul>									rs3088024	2
Q969Q1	84676	<ul><li>K->E at 237: in dbSNP:rs2275950</ul>									rs2275950	2
Q969Q4	115761	<ul><li>S->L at 22<li>L->M at 120: in dbSNP:rs35712316<li>P->L at 131<li>C->R at 148: in dbSNP:rs3803185<li>E->K at 164</ul>									<li>rs35712316</li><li>rs3803185</li>	2
Q969R2	23762	<ul><li>M->V at 760: in dbSNP:rs34240867</ul>									rs34240867	2
Q969R5	83746	<ul><li>I->V at 7: in dbSNP:rs3804097<li>R->W at 300: in dbSNP:rs2277846</ul>									<li>rs3804097</li><li>rs2277846</li>	2
Q969S2	252969	<ul><li>T->S at 70: in dbSNP:rs8191611<li>R->Q at 103: in dbSNP:rs8191613<li>R->W at 103: in dbSNP:rs8191612<li>R->L at 257: in dbSNP:rs8191664<li>P->T at 304: in dbSNP:rs8191666</ul>									<li>rs8191612</li><li>rs8191611</li><li>rs8191613</li><li>rs8191664</li><li>rs8191666</li>	2
Q969S8	83933	<ul><li>V->I at 429: in dbSNP:rs34402301<li>G->C at 584</ul>									rs34402301	2
Q969S9	84340	<ul><li>N->S at 64: in dbSNP:rs957680<li>S->C at 300: in dbSNP:rs16872235<li>R->Q at 774: in dbSNP:rs1048167</ul>									<li>rs957680</li><li>rs16872235</li><li>rs1048167</li>	2
Q969T3	90203	<ul><li>A->T at 154: in dbSNP:rs4638862</ul>									rs4638862	2
Q969T4	10477	<ul><li>W->R at 201: in dbSNP:rs2368192</ul>									rs2368192	2
Q969T7	115024	<ul><li>V->A at 201: in dbSNP:rs1046403<li>C->S at 205: in dbSNP:rs1046404</ul>									<li>rs1046404</li><li>rs1046403</li>	2
Q969U6	54461	<ul><li>E->K at 340: in dbSNP:rs7850438</ul>									rs7850438	2
Q969V1	84539	<ul><li>R->K at 63: no changes in receptor binding or functional signaling<li>R->Q at 152: no changes in receptor binding or functional signaling</ul>			receptor binding	GO:0005102						2
Q969V3	56926	<ul><li>E->D at 214: in dbSNP:rs11671067<li>K->R at 551: in dbSNP:rs2288949</ul>									<li>rs2288949</li><li>rs11671067</li>	2
Q969V4	83659	<ul><li>I->V at 146: in dbSNP:rs34431552<li>R->C at 254: in dbSNP:rs3744395<li>V->I at 332: in dbSNP:rs2271233</ul>									<li>rs34431552</li><li>rs3744395</li><li>rs2271233</li>	2
Q969V6	57591	<ul><li>S->G at 648: in dbSNP:rs878756</ul>									rs878756	2
Q969X1	64114	<ul><li>P->L at 21: in dbSNP:rs2292553</ul>									rs2292553	2
Q969X6	84916	<ul><li>R->H at 438: in dbSNP:rs8056684<li>R->W at 565: in NAIC, MIM: 604901</ul>								North American Indian childhood cirrhosis (NAIC) [MIM:604901]	rs8056684	2
Q969Y0	91775	<ul><li>T->I at 507: in dbSNP:rs3796277</ul>									rs3796277	2
Q969Y2	84705	<ul><li>A->V at 250: in dbSNP:rs3810206<li>R->H at 368: in dbSNP:rs3745193</ul>									<li>rs3745193</li><li>rs3810206</li>	2
Q969Z0	9238	<ul><li>A->S at 22: in dbSNP:rs2304694<li>P->L at 57: in dbSNP:rs2304693</ul>									<li>rs2304693</li><li>rs2304694</li>	2
Q969Z3	54996	<ul><li>G->S at 244: in dbSNP:rs3795535</ul>									rs3795535	2
Q969Z4	84957	<ul><li>A->V at 332: in dbSNP:rs12362779</ul>									rs12362779	2
Q96A11	89792	<ul><li>A->D at 221: in dbSNP:rs35285455<li>E->A at 410: in dbSNP:rs4565902</ul>									<li>rs4565902</li><li>rs35285455</li>	2
Q96A22	91894	<ul><li>T->R at 23: in dbSNP:rs7124407</ul>									rs7124407	2
Q96A26	26355	<ul><li>A->V at 50: in dbSNP:rs17850692</ul>									rs17850692	2
Q96A28	89886	<ul><li>V->M at 86: in dbSNP:rs34540580<li>L->I at 127: in dbSNP:rs2789417<li>D->H at 164: in dbSNP:rs35438196<li>E->K at 181: in dbSNP:rs34884993</ul>									<li>rs34884993</li><li>rs34540580</li><li>rs35438196</li><li>rs2789417</li>	2
Q96A29	55343	<ul><li>R->C at 147: in CDG2C: in dbSNP rsrs28939087, MIM: 266265<li>T->R at 308: in CDG2C: in dbSNP rsrs28937886, MIM: 266265</ul>								Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]	<li>rs28937886</li><li>rs28939087</li>	2
Q96A40	84968	<ul><li>C->Y at 152: in dbSNP:rs3810657</ul>									rs3810657	2
Q96A56	94241	<ul><li>C->R at 75: in dbSNP:rs11991800</ul>									rs11991800	2
Q96A59	91862	<ul><li>E->K at 60: in dbSNP:rs4788821</ul>									rs4788821	2
Q96A65	60412	<ul><li>S->F at 220: in a colorectal cancer sample; somatic mutation<li>A->T at 599: in a colorectal cancer sample; somatic mutation</ul>										2
Q96A70	113451	<ul><li>A->S at 288: in dbSNP:rs16835244</ul>									rs16835244	2
Q96A72	55110	<ul><li>E->K at 119: in a breast cancer sample; somatic mutation</ul>										2
Q96A84	129080	<ul><li>A->G at 107: in dbSNP:rs743920</ul>									rs743920	2
Q96A99		<ul><li>R->W at 92: in dbSNP:rs2745101<li>R->G at 220: in dbSNP:rs2667673<li>R->Q at 234: in dbSNP:rs12445920<li>R->K at 281: in dbSNP:rs2745098<li>A->S at 317: in dbSNP:rs13332460</ul>									<li>rs2745098</li><li>rs13332460</li><li>rs12445920</li><li>rs2745101</li><li>rs2667673</li>	2
Q96AA3	91869	<ul><li>R->C at 67: in CDG1N, MIM: 612015<li>A->T at 185: in dbSNP:rs35221142, MIM: 612015</ul>								Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]	rs35221142	2
Q96AA8	9832	<ul><li>V->I at 106: in dbSNP:rs3749736<li>R->C at 315: in a colorectal cancer sample; somatic mutation</ul>									rs3749736	2
Q96AB6	123803	<ul><li>H->N at 283: in dbSNP:rs1136001<li>S->P at 287: in dbSNP:rs1135999</ul>									<li>rs1135999</li><li>rs1136001</li>	2
Q96AC6	90990	<ul><li>G->E at 67: in dbSNP:rs35817880<li>S->F at 166: in dbSNP:rs12675537</ul>									<li>rs12675537</li><li>rs35817880</li>	2
Q96AD5	57104	<ul><li>P->L at 195: in NLSDM, MIM: 610717<li>L->F at 219, MIM: 610717<li>N->K at 252, MIM: 610717<li>L->P at 481: in dbSNP:rs1138693, MIM: 610717</ul>								Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	rs1138693	2
Q96AE4	8880	<ul><li>I->K at 399: in dbSNP:rs12748509</ul>									rs12748509	2
Q96AE7	55761	<ul><li>I->L at 145: in dbSNP:rs12099204<li>N->H at 270: in dbSNP:rs16937479</ul>									<li>rs16937479</li><li>rs12099204</li>	2
Q96AH0	64859	<ul><li>T->S at 154: in dbSNP:rs12612256</ul>									rs12612256	2
Q96AJ1	23059	<ul><li>A->S at 68: in dbSNP:rs34115694<li>R->W at 401: in dbSNP:rs9790</ul>									<li>rs9790</li><li>rs34115694</li>	2
Q96AN5	55260	<ul><li>D->N at 143: in dbSNP:rs34488893</ul>									rs34488893	2
Q96AP4	221302	<ul><li>N->D at 379: in dbSNP:rs4946188</ul>									rs4946188	2
Q96AP7	90952	<ul><li>R->C at 273: in dbSNP:rs12792040</ul>									rs12792040	2
Q96AQ1	90557	<ul><li>G->R at 302: in dbSNP:rs13660</ul>									rs13660	2
Q96AQ2	128218	<ul><li>R->L at 107: in a breast cancer sample; somatic mutation<li>A->D at 112: in dbSNP:rs35880191</ul>									rs35880191	2
Q96AQ6	57326	<ul><li>G->D at 356: in dbSNP:rs2061690<li>G->D at 357: in dbSNP:rs2061690</ul>									rs2061690	2
Q96AQ8	63933	<ul><li>S->G at 108: in dbSNP:rs1204145<li>T->A at 216: in dbSNP:rs3180196</ul>									<li>rs3180196</li><li>rs1204145</li>	2
Q96AQ9	348487	<ul><li>K->E at 48: in dbSNP:rs2863458<li>R->Q at 107: in dbSNP:rs11557063<li>P->R at 123: in dbSNP:rs11576236<li>S->I at 215: in dbSNP:rs1832151<li>E->D at 226: in dbSNP:rs17853749</ul>									<li>rs17853749</li><li>rs2863458</li><li>rs11576236</li><li>rs11557063</li><li>rs1832151</li>	2
Q96AT1	57456	<ul><li>I->M at 139: in dbSNP:rs3853404</ul>									rs3853404	2
Q96AV8	144455	<ul><li>L->F at 72: in dbSNP:rs310791<li>M->V at 626: in dbSNP:rs3829295<li>Q->H at 854: in dbSNP:rs310831</ul>									<li>rs310831</li><li>rs3829295</li><li>rs310791</li>	2
Q96AX1	65082	<ul><li>I->L at 256: in dbSNP:rs34996966</ul>									rs34996966	2
Q96AX2	326624	<ul><li>A->P at 188: in dbSNP:rs34215331</ul>									rs34215331	2
Q96AX9	142678	<ul><li>F->L at 15: in dbSNP:rs7418389<li>M->T at 45: in dbSNP:rs12755088</ul>									<li>rs7418389</li><li>rs12755088</li>	2
Q96AY2	146956	<ul><li>I->V at 49: in dbSNP:rs9896405<li>E->D at 69: in dbSNP:rs3760413<li>I->T at 350: in dbSNP:rs12450550</ul>									<li>rs12450550</li><li>rs3760413</li><li>rs9896405</li>	2
Q96AY3	60681	<ul><li>K->R at 197: in dbSNP:rs34764749</ul>									rs34764749	2
Q96AZ1	25895	<ul><li>S->L at 28: in dbSNP:rs34913183</ul>									rs34913183	2
Q96B21	120224	<ul><li>T->I at 59: in dbSNP:rs558813</ul>									rs558813	2
Q96B23	147339	<ul><li>S->SA at 313: in dbSNP:rs34068795 and dbSNP:rs59370768</ul>									rs34068795 and dbSNP:rs59370768	2
Q96B36	84335	<ul><li>A->P at 47: in dbSNP:rs17850191</ul>									rs17850191	2
Q96B70	94059	<ul><li>H->R at 131: in dbSNP:rs10406453<li>R->P at 477: in dbSNP:rs10423424</ul>									<li>rs10406453</li><li>rs10423424</li>	2
Q96B96	57146	<ul><li>G->S at 107: in dbSNP:rs1046480<li>D->E at 154: in dbSNP:rs1063087</ul>									<li>rs1063087</li><li>rs1046480</li>	2
Q96B97	30011	<ul><li>P->L at 382</ul>										2
Q96BA8	90993	<ul><li>A->T at 411: in dbSNP:rs35652107</ul>									rs35652107	2
Q96BD0	28231	<ul><li>R->Q at 70: in dbSNP:rs34419428<li>V->I at 78: in dbSNP:rs1047099</ul>									<li>rs1047099</li><li>rs34419428</li>	2
Q96BD5	51317	<ul><li>R->H at 347: in dbSNP:rs3736508</ul>									rs3736508	2
Q96BD8	220134	<ul><li>V->I at 91: in dbSNP:rs6507992</ul>									rs6507992	2
Q96BF3	126259	<ul><li>A->P at 202: in dbSNP:rs28477168</ul>									rs28477168	2
Q96BH3	64100	<ul><li>C->W at 100: in dbSNP:rs3745751<li>D->N at 170: in dbSNP:rs35362679<li>K->E at 199: in dbSNP:rs2303690<li>D->N at 215: in dbSNP:rs6509358</ul>									<li>rs6509358</li><li>rs35362679</li><li>rs3745751</li><li>rs2303690</li>	2
Q96BI1	5002	<ul><li>R->C at 70: in RMS1, MIM: 268210<li>S->F at 217: in lung cancer; somatic mutation, MIM: 211980<li>R->Q at 293, MIM: 211980</ul>							Q12504	<li>Lung cancer [MIM:211980]</li><li>Rhabdomyosarcoma type 1 (RMS1) [MIM:268210]</li>		2
Q96BK5	54984	<ul><li>Q->H at 206: in dbSNP:rs35530857<li>R->I at 215: in dbSNP:rs17855458<li>T->A at 220: in dbSNP:rs17711777<li>S->C at 254: in dbSNP:rs1078543<li>E->A at 315: in dbSNP:rs34656824</ul>									<li>rs1078543</li><li>rs34656824</li><li>rs35530857</li><li>rs17855458</li><li>rs17711777</li>	2
Q96BN2	117143	<ul><li>R->Q at 198: in dbSNP:rs2272792</ul>									rs2272792	2
Q96BN8	90268	<ul><li>M->L at 155: in dbSNP:rs11953822<li>S->N at 227: in dbSNP:rs9312870<li>N->S at 311: in dbSNP:rs9312870</ul>									<li>rs9312870</li><li>rs11953822</li>	2
Q96BQ1	131177	<ul><li>P->S at 60: in dbSNP:rs17059569<li>A->S at 118: in dbSNP:rs33966924</ul>									<li>rs33966924</li><li>rs17059569</li>	2
Q96BQ5	133957	<ul><li>R->H at 60: in dbSNP:rs11557427</ul>									rs11557427	2
Q96BR1	23678	<ul><li>A->V at 92: in a breast cancer sample; somatic mutation<li>L->P at 355</ul>										2
Q96BR5	65260	<ul><li>K->R at 219: in dbSNP:rs443751</ul>									rs443751	2
Q96BT3	80152	<ul><li>P->L at 115: in dbSNP:rs12102580</ul>									rs12102580	2
Q96BW5	9317	<ul><li>E->G at 97: in dbSNP:rs36023740</ul>									rs36023740	2
Q96BW9	132001	<ul><li>N->S at 116: in dbSNP:rs7641243<li>I->V at 179: in dbSNP:rs11551661</ul>									<li>rs11551661</li><li>rs7641243</li>	2
Q96BY7	55102	<ul><li>N->D at 1124: in dbSNP:rs9323945<li>Q->E at 1383: in dbSNP:rs3759601<li>T->I at 1567: in dbSNP:rs2289622</ul>									<li>rs3759601</li><li>rs2289622</li><li>rs9323945</li>	2
Q96BY9	51669	<ul><li>P->T at 78: in dbSNP:rs11538828</ul>									rs11538828	2
Q96BZ4	122618	<ul><li>E->Q at 27: in dbSNP:rs2841280<li>V->M at 135: in dbSNP:rs3803295</ul>									<li>rs3803295</li><li>rs2841280</li>	2
Q96BZ8	79165	<ul><li>E->K at 97: in dbSNP:rs35089861</ul>									rs35089861	2
Q96BZ9	128637	<ul><li>N->S at 79: in dbSNP:rs36088178</ul>									rs36088178	2
Q96C03	125170	<ul><li>G->E at 324: in dbSNP:rs12603700<li>R->Q at 354: in dbSNP:rs3751981</ul>									<li>rs3751981</li><li>rs12603700</li>	2
Q96C10	79132	<ul><li>T->A at 76: in dbSNP:rs34891485<li>R->Q at 95: in dbSNP:rs35118457<li>Q->R at 425: in dbSNP:rs2074158<li>R->Q at 523: in dbSNP:rs2074160</ul>									<li>rs2074160</li><li>rs2074158</li><li>rs35118457</li><li>rs34891485</li>	2
Q96C11	55277	<ul><li>L->V at 134: in dbSNP:rs11207463</ul>									rs11207463	2
Q96C12	79798	<ul><li>I->V at 170: in dbSNP:rs35923277</ul>									rs35923277	2
Q96C23	130589	<ul><li>N->Y at 190: in dbSNP:rs6741892</ul>									rs6741892	2
Q96C24	94121	<ul><li>V->I at 420: in dbSNP:rs2022039</ul>									rs2022039	2
Q96C28	286075	<ul><li>H->P at 94: in dbSNP:rs6987308</ul>									rs6987308	2
Q96C34	146923	<ul><li>V->I at 4: in dbSNP:rs17853899<li>R->W at 160: in dbSNP:rs1708875<li>L->M at 397: in dbSNP:rs17857183<li>E->K at 566: in dbSNP:rs3744241</ul>									<li>rs3744241</li><li>rs17853899</li><li>rs1708875</li><li>rs17857183</li>	2
Q96C45	54986	<ul><li>V->A at 18: in dbSNP rsrs34538622<li>K->R at 39: in dbSNP:rs2272007<li>N->K at 139: in dbSNP rsrs35833603<li>S->N at 223: in dbSNP rsrs55840267<li>I->V at 224: in dbSNP:rs1716975<li>S->G at 348: in dbSNP rsrs35263917<li>T->M at 415<li>S->P at 417<li>A->T at 542: in dbSNP:rs1052501<li>K->R at 569: in dbSNP:rs3774372<li>L->S at 603: in dbSNP:rs17063572<li>S->A at 640: in dbSNP:rs4973986<li>A->T at 715: in dbSNP:rs17215589<li>A->V at 1261: in dbSNP:rs6769117</ul>									<li>rs1716975</li><li>rs1052501</li><li>rs35263917</li><li>rs17215589</li><li>rs34538622</li><li>rs2272007</li><li>rs6769117</li><li>rs3774372</li><li>rs17063572</li><li>rs4973986</li><li>rs55840267</li><li>rs35833603</li>	2
Q96C57	64897	<ul><li>G->R at 44: in dbSNP:rs16950706</ul>									rs16950706	2
Q96C74	83853	<ul><li>N->K at 103: in dbSNP:rs35573613<li>R->P at 156: in dbSNP:rs17851209</ul>									<li>rs35573613</li><li>rs17851209</li>	2
Q96C86	28960	<ul><li>G->E at 73: in dbSNP:rs11557735</ul>									rs11557735	2
Q96C92	10807	<ul><li>L->V at 157: in dbSNP:rs7047681<li>E->G at 176: in dbSNP:rs17851182<li>R->Q at 304: in dbSNP:rs3812577<li>V->M at 379: in dbSNP:rs1131992<li>V->I at 428: in dbSNP:rs17855450</ul>									<li>rs17851182</li><li>rs17855450</li><li>rs3812577</li><li>rs7047681</li><li>rs1131992</li>	2
Q96CA5	79444	<ul><li>E->Q at 223: in dbSNP:rs1077019</ul>									rs1077019	2
Q96CB5	56260	<ul><li>Q->R at 131: in dbSNP:rs1909534<li>S->F at 148: in dbSNP:rs1057463</ul>									<li>rs1057463</li><li>rs1909534</li>	2
Q96CB8	57117	<ul><li>T->A at 323: in dbSNP:rs34567094</ul>									rs34567094	2
Q96CB9	387338	<ul><li>T->A at 51: in dbSNP:rs3737744<li>N->K at 128: in dbSNP:rs17102152<li>I->T at 325: in dbSNP:rs13374337<li>I->V at 365: in dbSNP:rs9865</ul>									<li>rs3737744</li><li>rs9865</li><li>rs13374337</li><li>rs17102152</li>	2
Q96CC6	64285	<ul><li>R->W at 265: in dbSNP:rs3213511</ul>									rs3213511	2
Q96CF2	92421	<ul><li>A->T at 232: in dbSNP:rs35094336</ul>									rs35094336	2
Q96CG3	92610	<ul><li>T->M at 19: in dbSNP:rs6834237</ul>									rs6834237	2
Q96CK0	115950	<ul><li>K->R at 54: in dbSNP:rs17851437</ul>									rs17851437	2
Q96CM3	84881	<ul><li>Q->R at 44: in dbSNP:rs2282580<li>D->G at 58: in dbSNP:rs35468281<li>E->D at 155: in dbSNP:rs34809853<li>A->V at 209: in dbSNP:rs35157957</ul>									<li>rs35468281</li><li>rs35157957</li><li>rs2282580</li><li>rs34809853</li>	2
Q96CM8	80221	<ul><li>G->V at 75: in dbSNP:rs17856448<li>V->M at 316: in dbSNP:rs3744523</ul>									<li>rs17856448</li><li>rs3744523</li>	2
Q96CN9	79571	<ul><li>R->W at 86: in dbSNP:rs17151044<li>C->W at 87: in dbSNP:rs2285348<li>A->V at 122: in dbSNP:rs35322201<li>Q->R at 262: in dbSNP:rs35390108<li>A->T at 274: in dbSNP:rs34887879<li>R->C at 618: in dbSNP:rs34883586</ul>									<li>rs34887879</li><li>rs17151044</li><li>rs2285348</li><li>rs35390108</li><li>rs35322201</li><li>rs34883586</li>	2
Q96CT7	115098	<ul><li>E->Q at 138: in dbSNP:rs8104153</ul>									rs8104153	2
Q96CU9	55572	<ul><li>V->I at 145: in dbSNP:rs34542988<li>A->P at 343: in dbSNP:rs17855445<li>H->R at 380: in dbSNP:rs7116126</ul>									<li>rs7116126</li><li>rs34542988</li><li>rs17855445</li>	2
Q96CV9	10133	<ul><li>H->D at 26: in GLC1E, MIM: 137760<li>E->K at 50: in GLC1E; dbSNP:rs28939688, MIM: 137760<li>M->K at 98: may modify intraocular pressure and increase risk of GLC1E and NPG; may be a common polymorphism; dbSNP:rs11258194, MIM: 137760<li>E->D at 103: in GLC1E, MIM: 137760<li>P->S at 201, MIM: 137760<li>K->H at 213: requires 2 nucleotide substitutions, MIM: 137760<li>S->R at 216, MIM: 137760<li>S->P at 308: in dbSNP:rs7068431, MIM: 137760<li>E->K at 322: in dbSNP:rs523747, MIM: 137760<li>T->P at 357, MIM: 137760<li>H->R at 486: in GLC1E; juvenile onset, MIM: 137760<li>R->Q at 545: in GLC1E; could be a polymorphism: in dbSNP rsrs28939689, MIM: 137760</ul>							Q96CV9	Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]	<li>rs7068431</li><li>rs523747</li><li>rs11258194</li><li>rs28939688</li><li>rs28939689</li>	2
Q96CW5	10426	<ul><li>T->S at 208: in dbSNP:rs1044287</ul>									rs1044287	2
Q96CW6	84138	<ul><li>V->M at 24: in dbSNP:rs35800405<li>D->G at 45: in dbSNP:rs3803650<li>S->A at 116: in dbSNP:rs8063446<li>Y->C at 220: in dbSNP:rs11548855</ul>									<li>rs35800405</li><li>rs3803650</li><li>rs8063446</li><li>rs11548855</li>	2
Q96CW9	84628	<ul><li>A->T at 346: in dbSNP:rs4962173</ul>									rs4962173	2
Q96CX3	115560	<ul><li>M->V at 17: in dbSNP:rs4682752</ul>									rs4682752	2
Q96D03	115265	<ul><li>S->F at 161: in dbSNP:rs11553154</ul>									rs11553154	2
Q96D09	114928	<ul><li>R->S at 173: in dbSNP:rs6616421</ul>									rs6616421	2
Q96D15	57333	<ul><li>R->W at 250: in dbSNP:rs34654230</ul>									rs34654230	2
Q96D31	84876	<ul><li>R->W at 91: in CRAC-SCID, MIM: 610277<li>S->G at 218: in dbSNP:rs3741596, MIM: 610277</ul>								Severe combined immunodeficiency with CRAC channel dysfunction (CRAC-SCID) [MIM:610277]	rs3741596	2
Q96D42	26762	<ul><li>P->PMTTTVP at 157<li>P->PMTTVP at 157<li>Missing at 195</ul>										2
Q96D46	51068	<ul><li>E->K at 6: in dbSNP:rs12490341</ul>									rs12490341	2
Q96D53	79934	<ul><li>R->C at 78: in dbSNP:rs11538384<li>H->R at 174: in dbSNP:rs3865452<li>T->M at 318: in dbSNP rsrs55899516<li>T->R at 352: in dbSNP:rs36012476<li>T->M at 462: in dbSNP rsrs56083906</ul>									<li>rs56083906</li><li>rs55899516</li><li>rs3865452</li><li>rs11538384</li><li>rs36012476</li>	2
Q96D59	138065	<ul><li>T->A at 82: in dbSNP:rs3750533<li>R->Q at 114: in dbSNP:rs3750534</ul>									<li>rs3750533</li><li>rs3750534</li>	2
Q96DB5	51115	<ul><li>K->N at 52: in dbSNP:rs6980476</ul>									rs6980476	2
Q96DB9		<ul><li>S->A at 35: in dbSNP:rs1688005<li>H->R at 176: in dbSNP:rs12110</ul>									<li>rs12110</li><li>rs1688005</li>	2
Q96DC7	55374	<ul><li>T->S at 299: in dbSNP:rs17208187</ul>									rs17208187	2
Q96DC8	79746	<ul><li>T->A at 69: in dbSNP:rs4750090<li>T->A at 151: in dbSNP:rs7910140<li>D->N at 162: in dbSNP:rs35986488</ul>									<li>rs35986488</li><li>rs4750090</li><li>rs7910140</li>	2
Q96DD0	127495	<ul><li>I->L at 121: in dbSNP:rs34920283</ul>									rs34920283	2
Q96DD7	149345	<ul><li>M->I at 159: in dbSNP:rs2250377</ul>									rs2250377	2
Q96DF8	8220	<ul><li>A->V at 31<li>V->M at 336: in dbSNP:rs17743887<li>A->V at 423: in dbSNP:rs712965</ul>									<li>rs17743887</li><li>rs712965</li>	2
Q96DG6	134147	<ul><li>Y->C at 155: in dbSNP:rs35489000</ul>									rs35489000	2
Q96DL1		<ul><li>V->A at 103: in dbSNP:rs11215158</ul>									rs11215158	2
Q96DN0	121506	<ul><li>F->L at 52: in dbSNP:rs35030722</ul>									rs35030722	2
Q96DN2	220001	<ul><li>P->R at 842: in dbSNP:rs3750982</ul>									rs3750982	2
Q96DN5	93594	<ul><li>R->H at 414: in dbSNP:rs16897967<li>V->F at 709: in dbSNP:rs16898023</ul>									<li>rs16898023</li><li>rs16897967</li>	2
Q96DR5	140683	<ul><li>G->R at 43: in dbSNP:rs6059139<li>K->E at 113: in dbSNP:rs17304572<li>R->C at 221: in dbSNP:rs6120140</ul>									<li>rs6120140</li><li>rs17304572</li><li>rs6059139</li>	2
Q96DR7	26084	<ul><li>L->V at 29: in dbSNP:rs12493885<li>F->S at 203: in dbSNP:rs13096373</ul>									<li>rs12493885</li><li>rs13096373</li>	2
Q96DR8	118430	<ul><li>Missing at 46-53</ul>										2
Q96DS6	245802	<ul><li>I->V at 6: in dbSNP:rs2304935<li>T->A at 10: in dbSNP:rs2304934<li>V->F at 47: in dbSNP:rs2304933</ul>									<li>rs2304933</li><li>rs2304935</li><li>rs2304934</li>	2
Q96DT5	8701	<ul><li>E->L at 34: requires 2 nucleotide substitutions<li>E->V at 34: in dbSNP:rs2285944<li>Q->R at 639: in dbSNP:rs12670130<li>S->C at 654<li>V->A at 1023: in dbSNP:rs10269582<li>A->T at 1038: in dbSNP:rs10224537<li>M->V at 1316: in dbSNP:rs17144788<li>D->G at 1640: in dbSNP:rs17144835<li>S->N at 2641<li>I->V at 2682<li>R->Q at 3004: in CILD7; not proven to be pathogenic, MIM: 611884<li>A->T at 3474, MIM: 611884<li>L->V at 3715, MIM: 611884<li>S->P at 3765, MIM: 611884<li>M->V at 4172, MIM: 611884<li>T->I at 4177, MIM: 611884</ul>								Primary ciliary dyskinesia type 7 (CILD7) [MIM:611884]	<li>rs10269582</li><li>rs12670130</li><li>rs17144835</li><li>rs10224537</li><li>rs2285944</li><li>rs17144788</li>	2
Q96DT7	65986	<ul><li>T->P at 50: in dbSNP:rs591989<li>I->M at 174: in dbSNP:rs593747</ul>									<li>rs591989</li><li>rs593747</li>	2
Q96DU9	100131622	<ul><li>N->S at 314: in dbSNP:rs7050077</ul>									rs7050077	2
Q96DV4	64978	<ul><li>D->H at 371: in dbSNP:rs9191</ul>									rs9191	2
Q96DW6	54977	<ul><li>R->G at 66: in dbSNP:rs34127778</ul>									rs34127778	2
Q96DZ1	27248	<ul><li>V->L at 318: in dbSNP:rs2287345</ul>									rs2287345	2
Q96DZ5	25999	<ul><li>D->V at 175: in dbSNP:rs17851002</ul>									rs17851002	2
Q96E11	92399	<ul><li>M->V at 216: in dbSNP:rs2297483</ul>									rs2297483	2
Q96E22	116150	<ul><li>N->Y at 175: in dbSNP:rs28362518<li>D->E at 179: in dbSNP:rs28362519<li>Missing  at 210: in dbSNP:rs1052237<li>K->R at 216: in dbSNP:rs1052239<li>T->K at 219: in dbSNP:rs1132147</ul>									<li>rs1132147</li><li>rs28362518</li><li>rs28362519</li><li>rs1052239</li><li>rs1052237</li>	2
Q96E29	51001	<ul><li>E->G at 396: in dbSNP:rs7461970</ul>									rs7461970	2
Q96E52	115209	<ul><li>N->K at 67: in dbSNP:rs34466938<li>P->L at 117: in dbSNP:rs17117720<li>F->C at 211: in dbSNP:rs17117699<li>L->V at 226: in a colorectal cancer sample; somatic mutation<li>I->L at 329: in dbSNP:rs17117678</ul>									<li>rs17117720</li><li>rs17117699</li><li>rs34466938</li><li>rs17117678</li>	2
Q96E93	10219	<ul><li>W->R at 58: in dbSNP:rs1805749</ul>									rs1805749	2
Q96EA4	54908	<ul><li>H->Y at 508: in dbSNP:rs3797713<li>S->L at 586: in dbSNP:rs3777084</ul>									<li>rs3797713</li><li>rs3777084</li>	2
Q96EB1	26610	<ul><li>I->L at 300: in dbSNP:rs34804357</ul>									rs34804357	2
Q96EB6	23411	<ul><li>D->E at 3: in dbSNP rsrs35671182<li>V->D at 484: in dbSNP:rs1063111</ul>									<li>rs1063111</li><li>rs35671182</li>	2
Q96EC8	286451	<ul><li>F->L at 202: in dbSNP:rs17850921</ul>									rs17850921	2
Q96ED9	29911	<ul><li>G->R at 10: in dbSNP:rs2305376<li>H->Q at 488: in dbSNP:rs897804</ul>									<li>rs2305376</li><li>rs897804</li>	2
Q96EE3	81929	<ul><li>T->N at 342: in dbSNP:rs6505776</ul>									rs6505776	2
Q96EF0	55613	<ul><li>W->R at 127: in a breast cancer sample; somatic mutation<li>E->K at 454: in a breast cancer sample; somatic mutation</ul>										2
Q96EG1	22901	<ul><li>A->V at 11: in dbSNP:rs8074806<li>T->S at 236: in dbSNP:rs1558876<li>W->R at 274: in dbSNP:rs1558878<li>R->H at 385: in dbSNP:rs9972951</ul>									<li>rs9972951</li><li>rs8074806</li><li>rs1558876</li><li>rs1558878</li>	2
Q96EG3	116412	<ul><li>Q->R at 153: in dbSNP:rs7256940</ul>									rs7256940	2
Q96EK2	112885	<ul><li>G->S at 127: in dbSNP:rs8135982</ul>									rs8135982	2
Q96EK5	26128	<ul><li>G->S at 66: in dbSNP:rs2255607</ul>									rs2255607	2
Q96EK7	84498	<ul><li>D->Y at 370: in dbSNP:rs6917485<li>M->T at 379: in dbSNP:rs6905356<li>Y->C at 428: in dbSNP:rs6900199<li>D->G at 430: in dbSNP:rs6900202<li>S->P at 431: in dbSNP:rs6905610<li>P->A at 433: in dbSNP:rs6934830<li>Y->C at 440: in dbSNP:rs9366138<li>C->G at 511: in dbSNP:rs9348266</ul>									<li>rs6917485</li><li>rs6934830</li><li>rs9366138</li><li>rs6900202</li><li>rs6905610</li><li>rs6905356</li><li>rs9348266</li><li>rs6900199</li>	2
Q96EK9	112970	<ul><li>D->E at 191: in dbSNP:rs2783175</ul>									rs2783175	2
Q96EL2	64951	<ul><li>W->R at 97: in dbSNP:rs670573</ul>									rs670573	2
Q96EL3	116540	<ul><li>A->S at 4: in dbSNP:rs1047911</ul>									rs1047911	2
Q96EM0	112849	<ul><li>V->A at 42: in dbSNP:rs17096291<li>A->V at 315: in dbSNP:rs1046701<li>I->V at 341: in dbSNP:rs8660</ul>									<li>rs8660</li><li>rs17096291</li><li>rs1046701</li>	2
Q96EN8	55034	<ul><li>A->P at 57: in XU2, MIM: 603592<li>S->N at 120: in dbSNP:rs3744900, MIM: 603592<li>I->T at 170: in dbSNP:rs623053, MIM: 603592<li>G->S at 184: in dbSNP:rs540967, MIM: 603592<li>R->H at 225: in dbSNP:rs623558, MIM: 603592<li>T->I at 294: in XU2, MIM: 603592<li>M->V at 358: in dbSNP:rs678560, MIM: 603592<li>D->N at 495: in dbSNP:rs8088347, MIM: 603592<li>V->L at 541: in dbSNP:rs672924, MIM: 603592<li>H->N at 703: in dbSNP:rs594445, MIM: 603592<li>R->C at 776: in XU2, MIM: 603592<li>V->A at 867: in dbSNP:rs1057251, MIM: 603592</ul>								Xanthinuria type 2 (XU2) [MIM:603592]	<li>rs8088347</li><li>rs540967</li><li>rs1057251</li><li>rs678560</li><li>rs3744900</li><li>rs623053</li><li>rs623558</li><li>rs594445</li><li>rs672924</li>	2
Q96EP0	55072	<ul><li>V->I at 1061: in dbSNP:rs2277484</ul>									rs2277484	2
Q96EP1	55743	<ul><li>P->L at 166: in a patient with NSCLC; homozygous<li>R->P at 202: in a patient with NSCLC<li>G->R at 270<li>A->V at 456: in dbSNP:rs2306541<li>A->V at 497: common polymorphism; dbSNP:rs2306541<li>F->S at 536: in a patient with NSCLC<li>V->M at 580: common polymorphism; dbSNP:rs2306536</ul>									rs2306541	2
Q96EP5	26528	<ul><li>S->T at 381: in a breast cancer sample; somatic mutation</ul>										2
Q96ER3	113174	<ul><li>I->V at 315: in dbSNP:rs35525096<li>S->G at 426: in dbSNP:rs28930681</ul>									<li>rs28930681</li><li>rs35525096</li>	2
Q96ER9	79714	<ul><li>F->S at 360: in dbSNP:rs7618609</ul>									rs7618609	2
Q96ES6	113655	<ul><li>G->R at 292: in dbSNP:rs2306387</ul>									rs2306387	2
Q96ET8	201158	<ul><li>D->A at 12: in dbSNP:rs17850827</ul>									rs17850827	2
Q96EU6	88745	<ul><li>A->G at 78: in dbSNP:rs3749903</ul>									rs3749903	2
Q96EU7	29071	<ul><li>D->E at 131: common polymorphism; retains capacity to promote Tn synthase activity; dbSNP:rs17261572<li>E->K at 152: in Tn syndrome; loss capacity to promote Tn synthase activity, MIM: 300622</ul>								Tn syndrome [MIM:300622]	rs17261572	2
Q96EV2	155435	<ul><li>T->A at 574: in dbSNP:rs3735576</ul>									rs3735576	2
Q96EV8	84062	<ul><li>G->D at 214: in dbSNP:rs16876589<li>P->S at 272: in dbSNP:rs17470454</ul>									<li>rs17470454</li><li>rs16876589</li>	2
Q96EW2	79663	<ul><li>S->A at 64: in dbSNP:rs16833517</ul>									rs16833517	2
Q96EX1	113444	<ul><li>L->V at 14: in dbSNP:rs14103</ul>									rs14103	2
Q96EY1	9093	<ul><li>Y->N at 75: in dbSNP:rs4785963</ul>									rs4785963	2
Q96EY4	55319	<ul><li>R->Q at 12: in dbSNP:rs34907234<li>Q->P at 65: in dbSNP:rs2304802<li>I->T at 176: in dbSNP:rs1561736</ul>									<li>rs34907234</li><li>rs2304802</li><li>rs1561736</li>	2
Q96EY5	93343	<ul><li>C->Y at 106: in dbSNP:rs34949802</ul>									rs34949802	2
Q96EY7	55037	<ul><li>A->V at 2: in dbSNP:rs13393659<li>S->G at 681: in dbSNP:rs2241433</ul>									<li>rs2241433</li><li>rs13393659</li>	2
Q96EY8	326625	<ul><li>R->H at 19: in dbSNP:rs10774775<li>R->Q at 19: common polymorphism<li>I->T at 96: in MMAB, MIM: 251110<li>A->T at 135: in MMAB; dbSNP:rs35648932, MIM: 251110<li>R->W at 186: rare polymorphism: in dbSNP rsrs28941784, MIM: 251110<li>R->W at 191: in MMAB, MIM: 251110<li>E->K at 193: in MMAB, MIM: 251110<li>M->K at 239: common polymorphism; dbSNP:rs9593, MIM: 251110</ul>							<li>Q96EY8</li><li>Q58D49</li>	Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	<li>rs10774775</li><li>rs35648932</li><li>rs28941784</li><li>rs9593</li>	2
Q96EY9	113179	<ul><li>R->C at 332: in a breast cancer sample; somatic mutation</ul>										2
Q96EZ4	26579	<ul><li>A->V at 159: in dbSNP:rs7103126</ul>									rs7103126	2
Q96EZ8	10445	<ul><li>V->I at 441: in a colorectal cancer sample; somatic mutation</ul>										2
Q96F05	53838	<ul><li>G->V at 97: in dbSNP:rs3802746<li>A->T at 150: in dbSNP:rs901827</ul>									<li>rs901827</li><li>rs3802746</li>	2
Q96F07	26999	<ul><li>K->E at 320: in RNA edited version</ul>										2
Q96F10	112483	<ul><li>R->C at 126: in dbSNP:rs13894</ul>									rs13894	2
Q96F25	199857	<ul><li>V->M at 14: in dbSNP:rs11165298</ul>									rs11165298	2
Q96F45	84858	<ul><li>N->K at 509: in dbSNP:rs35764982</ul>									rs35764982	2
Q96F46	23765	<ul><li>A->V at 367: in dbSNP:rs879577<li>P->Q at 562: in dbSNP:rs12484684<li>R->H at 580: in dbSNP:rs17850765</ul>									<li>rs12484684</li><li>rs17850765</li><li>rs879577</li>	2
Q96F81	84976	<ul><li>E->K at 103: in dbSNP:rs2609383</ul>									rs2609383	2
Q96FB5	51093	<ul><li>V->L at 400: in dbSNP:rs4311877</ul>									rs4311877	2
Q96FC7	84457	<ul><li>L->V at 342: in dbSNP:rs2452505</ul>									rs2452505	2
Q96FC9	1663	<ul><li>I->S at 39: in dbSNP:rs1046454<li>Q->E at 567: in dbSNP:rs2075322<li>T->M at 575: in dbSNP:rs17857386<li>R->H at 856: in dbSNP:rs1046457<li>C->R at 864: in dbSNP:rs3893679<li>C->R at 951: in dbSNP:rs1046458<li>W->C at 966: in dbSNP:rs14330</ul>									<li>rs17857386</li><li>rs1046454</li><li>rs2075322</li><li>rs1046457</li><li>rs1046458</li><li>rs14330</li><li>rs3893679</li>	2
Q96FE5	84894	<ul><li>S->F at 183: in dbSNP:rs9855</ul>									rs9855	2
Q96FE7	113791	<ul><li>T->S at 251: in dbSNP:rs2040533</ul>									rs2040533	2
Q96FF7		<ul><li>V->A at 340: in dbSNP:rs7258963</ul>									rs7258963	2
Q96FF9	113130	<ul><li>S->Y at 156: in dbSNP:rs34020666</ul>									rs34020666	2
Q96FG2	84173	<ul><li>R->C at 66: in dbSNP:rs7564372<li>T->I at 70: in dbSNP:rs955592</ul>									<li>rs955592</li><li>rs7564372</li>	2
Q96FI4	79661	<ul><li>S->C at 82: in dnSNP:5745905: in dbSNP rsrs5745905<li>G->D at 83: in dnSNP:5745906: in dbSNP rsrs5745906<li>C->R at 136: in dnSNP:5745907: in dbSNP rsrs5745907<li>I->M at 182: in dnSNP:7183491: in dbSNP rsrs7183491<li>D->N at 252: in dbSNP:rs5745926</ul>									<li>rs5745905</li><li>rs5745906</li><li>rs7183491</li><li>rs5745907</li><li>rs5745926</li>	2
Q96FJ0	57559	<ul><li>S->N at 196: in dbSNP:rs12254856<li>E->K at 204: in dbSNP:rs34270879<li>A->T at 210: in dbSNP:rs9988723</ul>									<li>rs34270879</li><li>rs9988723</li><li>rs12254856</li>	2
Q96FL8	55244	<ul><li>V->I at 338: in dbSNP:rs35790011</ul>									rs35790011	2
Q96FL9	79623	<ul><li>Q->K at 469: in dbSNP:rs2288101</ul>									rs2288101	2
Q96FN9	112487	<ul><li>R->W at 6: in dbSNP:rs17097904</ul>									rs17097904	2
Q96FQ7	147525	<ul><li>P->A at 16: in dbSNP:rs7242964</ul>									rs7242964	2
Q96FS4	6494	<ul><li>R->Q at 80: in dbSNP:rs35045265<li>A->S at 106: in dbSNP:rs3741379<li>E->D at 174: in dbSNP:rs34912782<li>S->F at 182: in dbSNP:rs3741378</ul>									<li>rs3741378</li><li>rs3741379</li><li>rs34912782</li><li>rs35045265</li>	2
Q96FT7	55515	<ul><li>P->Q at 614: in dbSNP:rs6436153<li>L->R at 616: in dbSNP:rs11689281</ul>									<li>rs11689281</li><li>rs6436153</li>	2
Q96FV2	90507	<ul><li>K->R at 103: in dbSNP:rs17856536<li>E->Q at 273: in dbSNP:rs35901087<li>V->M at 323: in dbSNP:rs7350974<li>Q->R at 330: in dbSNP:rs34480825<li>S->G at 411: in dbSNP:rs17856535</ul>									<li>rs34480825</li><li>rs17856536</li><li>rs17856535</li><li>rs7350974</li><li>rs35901087</li>	2
Q96FX7	115708	<ul><li>V->A at 66</ul>										2
Q96FX8	64065	<ul><li>P->R at 143: in dbSNP:rs648802</ul>									rs648802	2
Q96G03	55276	<ul><li>G->D at 10: in dbSNP:rs17856324<li>E->D at 488: in dbSNP:rs10001580</ul>									<li>rs17856324</li><li>rs10001580</li>	2
Q96G04	196483	<ul><li>S->C at 123: in dbSNP:rs9673733</ul>									rs9673733	2
Q96G23	29956	<ul><li>E->A at 115: in dbSNP:rs267738</ul>									rs267738	2
Q96G28	112942	<ul><li>E->D at 6: in dbSNP:rs34891804<li>D->G at 243: in dbSNP:rs1045910<li>I->F at 246: in dbSNP:rs1045920</ul>									<li>rs34891804</li><li>rs1045920</li><li>rs1045910</li>	2
Q96G46	56931	<ul><li>R->G at 185: in dbSNP:rs2436487<li>D->N at 609: in dbSNP:rs12977803</ul>									<li>rs12977803</li><li>rs2436487</li>	2
Q96G61	55190	<ul><li>S->N at 39</ul>										2
Q96G91	5032	<ul><li>A->T at 87: in dbSNP:rs3745601</ul>									rs3745601	2
Q96G97	26580	<ul><li>N->S at 88: in SPG17 and DSMAV, MIM: 270685<li>S->L at 90: in SPG17 and DSMAV, MIM: 270685<li>A->P at 212: in CGL2, MIM: 269700</ul>							P20718	<li>Distal hereditary motor neuropathy type V (DSMAV) [MIM:600794]</li><li>Congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700]</li><li>Spastic paraplegia type 17 (SPG17) [MIM:270685]</li>		2
Q96GC5	51642	<ul><li>E->G at 6: in dbSNP:rs17850551</ul>									rs17850551	2
Q96GD4	9212	<ul><li>A->V at 52: in dbSNP rsrs55878091<li>H->Q at 100: in dbSNP:rs3027254<li>T->M at 179: in dbSNP rsrs55871613<li>T->M at 298: in dbSNP:rs1059476</ul>									<li>rs1059476</li><li>rs3027254</li><li>rs55878091</li><li>rs55871613</li>	2
Q96GE4	90799	<ul><li>M->I at 165: in dbSNP:rs9910506<li>A->V at 811: in dbSNP:rs11550922</ul>									<li>rs9910506</li><li>rs11550922</li>	2
Q96GE5	90576	<ul><li>G->V at 46: in dbSNP:rs1134387<li>C->R at 595: in dbSNP:rs8112445</ul>									<li>rs1134387</li><li>rs8112445</li>	2
Q96GE6	91860	<ul><li>R->C at 28: in dbSNP:rs3803381<li>T->K at 154: in dbSNP:rs2280217</ul>									<li>rs3803381</li><li>rs2280217</li>	2
Q96GJ1	79979	<ul><li>S->R at 12: in dbSNP:rs7064613</ul>									rs7064613	2
Q96GK7	51011	<ul><li>M->T at 198: in dbSNP:rs1045332</ul>									rs1045332	2
Q96GM1	64748	<ul><li>T->M at 155: in a colorectal cancer sample; somatic mutation</ul>										2
Q96GM8	114034	<ul><li>R->H at 341: in dbSNP:rs9429157</ul>									rs9429157	2
Q96GN5	55536	<ul><li>R->S at 187: in dbSNP:rs35281045</ul>									rs35281045	2
Q96GP6	91179	<ul><li>R->C at 494: in a breast cancer sample; somatic mutation<li>E->D at 773: in dbSNP:rs759611<li>L->V at 774: in dbSNP:rs759612<li>A->G at 815: in dbSNP:rs874100<li>A->G at 833: in dbSNP:rs874101</ul>									<li>rs874101</li><li>rs874100</li><li>rs759612</li><li>rs759611</li>	2
Q96GQ5	64755	<ul><li>G->E at 43: in a breast cancer sample; somatic mutation<li>Y->C at 185: in dbSNP:rs17855405</ul>									rs17855405	2
Q96GQ7	55661	<ul><li>G->S at 766: in dbSNP:rs1130146</ul>									rs1130146	2
Q96GR2	23205	<ul><li>E->V at 194: in dbSNP:rs12899901<li>V->M at 633: in dbSNP:rs2304824<li>A->V at 673: in dbSNP:rs11072735</ul>									<li>rs11072735</li><li>rs12899901</li><li>rs2304824</li>	2
Q96GR4	84885	<ul><li>P->S at 69: in dbSNP:rs2298039<li>Q->L at 172: in dbSNP:rs2900268</ul>									<li>rs2900268</li><li>rs2298039</li>	2
Q96GW7	63827	<ul><li>S->L at 356: in dbSNP:rs12065791<li>E->K at 504: in dbSNP:rs1056695</ul>									<li>rs1056695</li><li>rs12065791</li>	2
Q96GX5	84930	<ul><li>E->D at 167: in THC2: in dbSNP rsrs28941470, MIM: 188000<li>T->K at 337: in dbSNP rsrs36121140, MIM: 188000<li>V->I at 610: in dbSNP rsrs35571315, MIM: 188000<li>P->A at 620: in dbSNP:rs3802526, MIM: 188000</ul>							Q96GX5	Thrombocytopenia type 2 (THC2) [MIM:188000]	<li>rs28941470</li><li>rs3802526</li><li>rs36121140</li><li>rs35571315</li>	2
Q96GX9	51074	<ul><li>R->W at 7: in dbSNP:rs2956114<li>H->R at 23: in dbSNP:rs17850326<li>C->Y at 76: in dbSNP:rs1977420<li>M->V at 181: in dbSNP:rs17850327</ul>									<li>rs17850326</li><li>rs17850327</li><li>rs2956114</li><li>rs1977420</li>	2
Q96GY0	51101	<ul><li>A->T at 156: in dbSNP:rs17850447</ul>									rs17850447	2
Q96GY3	55957	<ul><li>P->S at 172: in dbSNP:rs35617825</ul>									rs35617825	2
Q96GZ6	54946	<ul><li>A->T at 62: in dbSNP:rs4234270<li>V->M at 71: in dbSNP:rs11543283</ul>									<li>rs4234270</li><li>rs11543283</li>	2
Q96H15	91937	<ul><li>A->V at 240: in dbSNP:rs6873053<li>V->M at 365: in dbSNP:rs7731575</ul>									<li>rs7731575</li><li>rs6873053</li>	2
Q96H22	55839	<ul><li>D->E at 84: in dbSNP:rs935939<li>Q->R at 223: in dbSNP:rs11641523<li>E->K at 288: in dbSNP:rs2549887</ul>									<li>rs2549887</li><li>rs935939</li><li>rs11641523</li>	2
Q96H55	80179	<ul><li>N->S at 176: in dbSNP:rs2306595<li>Q->H at 203: in dbSNP:rs9890918<li>L->I at 475: in dbSNP:rs7217346</ul>									<li>rs7217346</li><li>rs9890918</li><li>rs2306595</li>	2
Q96H72	91252	<ul><li>G->E at 28: in dbSNP:rs2010519<li>Missing  at 162-164: in SCD-EDS<li>P->L at 346: in dbSNP:rs35978122</ul>							<li>Q9TT94</li><li>Q64420</li><li>O00767</li><li>Q95MI7</li><li>O62849</li><li>O02858</li>		<li>rs2010519</li><li>rs35978122</li>	2
Q96H78	9673	<ul><li>S->I at 52: in dbSNP:rs11576750</ul>									rs11576750	2
Q96H86	92595	<ul><li>A->V at 332: in dbSNP:rs17850402</ul>									rs17850402	2
Q96H96	27235	<ul><li>Y->C at 247: in coenzyme Q10 deficiency, MIM: 607426</ul>								Coenzyme Q10 deficiency [MIM:607426]		2
Q96HA1	9883	<ul><li>A->G at 1215: in dbSNP:rs3177261</ul>									rs3177261	2
Q96HA7	4796	<ul><li>V->M at 488: in dbSNP:rs2229314<li>G->S at 493: in dbSNP:rs2229315<li>A->V at 714: in dbSNP:rs7830832<li>P->L at 1276: in dbSNP:rs4925856</ul>									<li>rs2229314</li><li>rs2229315</li><li>rs7830832</li><li>rs4925856</li>	2
Q96HA8	55093	<ul><li>I->V at 32: in dbSNP:rs6999234<li>N->S at 93: in dbSNP:rs7014678<li>F->I at 116: in dbSNP:rs6470147<li>R->C at 134: in dbSNP:rs3824250</ul>									<li>rs6470147</li><li>rs6999234</li><li>rs3824250</li><li>rs7014678</li>	2
Q96HA9	92960	<ul><li>C->W at 91: in dbSNP:rs2303146</ul>									rs2303146	2
Q96HC4	10611	<ul><li>S->F at 136: in dbSNP:rs2452600<li>S->L at 319: in dbSNP:rs1064238<li>T->A at 345: in dbSNP:rs966845<li>T->A at 381: in dbSNP:rs7690296<li>P->S at 388: in dbSNP:rs7690464<li>N->S at 492: in dbSNP:rs13107595</ul>									<li>rs7690464</li><li>rs2452600</li><li>rs1064238</li><li>rs13107595</li><li>rs7690296</li><li>rs966845</li>	2
Q96HD1	78987	<ul><li>M->V at 13: in dbSNP:rs279552<li>R->H at 107: in AVSD2 susceptibility; with heterotaxy syndrome: in dbSNP rsrs28941780<li>P->R at 128: in dbSNP:rs2302787<li>P->A at 162: in AVSD2 susceptibility<li>T->I at 311: in AVSD2 susceptibility: in dbSNP rsrs28942092<li>R->C at 329: in AVSD2 susceptibility: in dbSNP rsrs28942091</ul>									<li>rs28942092</li><li>rs2302787</li><li>rs28942091</li><li>rs279552</li><li>rs28941780</li>	2
Q96HD9	91703	<ul><li>R->Q at 8: in dbSNP:rs948445<li>V->M at 281: in dbSNP:rs2290959</ul>									<li>rs948445</li><li>rs2290959</li>	2
Q96HF1	6423	<ul><li>A->V at 45: in dbSNP:rs4643790</ul>									rs4643790	2
Q96HJ3	91057	<ul><li>P->S at 53: in dbSNP:rs11549824<li>H->N at 192: in dbSNP:rs12364852<li>E->A at 264: in dbSNP:rs17244028<li>I->V at 319: in dbSNP:rs16925453</ul>									<li>rs17244028</li><li>rs12364852</li><li>rs11549824</li><li>rs16925453</li>	2
Q96HJ9	154791	<ul><li>S->A at 8: in dbSNP:rs10265</ul>									rs10265	2
Q96HM7	91523	<ul><li>P->A at 429: in dbSNP:rs2543737</ul>									rs2543737	2
Q96HP0	57572	<ul><li>P->L at 250: in dbSNP:rs12978266<li>P->L at 555: in dbSNP:rs12609039<li>R->G at 665: in dbSNP:rs17001264<li>V->L at 1420: in dbSNP:rs8108071</ul>									<li>rs12609039</li><li>rs12978266</li><li>rs17001264</li><li>rs8108071</li>	2
Q96HP4	92106	<ul><li>R->Q at 59: in dbSNP:rs17042066<li>S->A at 64: in dbSNP:rs842274<li>R->C at 82: in dbSNP:rs6777976</ul>									<li>rs842274</li><li>rs17042066</li><li>rs6777976</li>	2
Q96HP8	55365	<ul><li>T->A at 122: in dbSNP:rs741064<li>L->F at 187: in dbSNP:rs10378<li>T->A at 208: in dbSNP:rs9088</ul>									<li>rs9088</li><li>rs10378</li><li>rs741064</li>	2
Q96HQ0	79744	<ul><li>E->Q at 141: in dbSNP:rs2074076<li>I->V at 336: in dbSNP:rs2074077</ul>									<li>rs2074076</li><li>rs2074077</li>	2
Q96HR9	92840	<ul><li>A->D at 150: in dbSNP:rs2271412</ul>									rs2271412	2
Q96HU1	27352	<ul><li>W->R at 20: in dbSNP:rs9611338<li>H->Q at 279: in dbSNP:rs34243479</ul>									<li>rs34243479</li><li>rs9611338</li>	2
Q96HY6	65992	<ul><li>A->T at 303: in dbSNP:rs11591</ul>									rs11591	2
Q96HY7	55526	<ul><li>L->F at 20: in dbSNP:rs1279138<li>Y->D at 272: in dbSNP:rs3740015<li>R->L at 308: in dbSNP:rs17849603<li>N->D at 350: in dbSNP:rs34716552<li>I->M at 607: in dbSNP:rs2062988</ul>									<li>rs1279138</li><li>rs34716552</li><li>rs2062988</li><li>rs3740015</li><li>rs17849603</li>	2
Q96HZ4	55502	<ul><li>R->Q at 218: in dbSNP:rs3739061</ul>									rs3739061	2
Q96I15	51540	<ul><li>K->E at 52: in dbSNP:rs7597367<li>A->T at 175: in dbSNP:rs3210400<li>F->S at 276: in dbSNP:rs35637307</ul>									<li>rs3210400</li><li>rs7597367</li><li>rs35637307</li>	2
Q96I27	90589	<ul><li>V->M at 41: in dbSNP:rs7258368</ul>									rs7258368	2
Q96I51	81554	<ul><li>R->G at 30: in dbSNP:rs6955671</ul>									rs6955671	2
Q96I59	79731	<ul><li>T->N at 87: in dbSNP:rs10501429</ul>									rs10501429	2
Q96I76	63906	<ul><li>N->S at 234: in dbSNP:rs35243557</ul>									rs35243557	2
Q96I82	81621	<ul><li>C->G at 76: in dbSNP:rs11547671<li>G->D at 236: in dbSNP:rs11190812<li>G->A at 255: in dbSNP:rs807037<li>R->H at 256: in dbSNP:rs36116329</ul>									<li>rs11547671</li><li>rs36116329</li><li>rs11190812</li><li>rs807037</li>	2
Q96I99	8801	<ul><li>K->R at 347: in dbSNP:rs9843840<li>R->W at 381: in dbSNP:rs7623258</ul>									<li>rs7623258</li><li>rs9843840</li>	2
Q96ID5	84966	<ul><li>T->M at 467: in a colorectal cancer sample; somatic mutation</ul>										2
Q96IJ6	29926	<ul><li>S->F at 21: in dbSNP:rs34218609<li>V->A at 156: in dbSNP:rs13396066</ul>									<li>rs13396066</li><li>rs34218609</li>	2
Q96IL0	84334	<ul><li>A->P at 14: in dbSNP:rs2274268<li>N->S at 75: in dbSNP:rs35960830</ul>									<li>rs35960830</li><li>rs2274268</li>	2
Q96IM9	84332	<ul><li>G->S at 143: in dbSNP:rs1047951</ul>									rs1047951	2
Q96IP4	55603	<ul><li>G->GGDFGG at 24<li>Missing at 39-43<li>T->A at 313</ul>										2
Q96IQ9	84330	<ul><li>Q->R at 65: in dbSNP:rs8100431<li>P->S at 77: in dbSNP:rs1064010</ul>									<li>rs8100431</li><li>rs1064010</li>	2
Q96IS3	84839	<ul><li>R->Q at 87: in ARMD6; increased transactivation and DNA-binding activity, MIM: 603075<li>G->R at 137: in CORD11; decreased interaction with Crx and transactivation activity, MIM: 610381<li>P->PGP at 140: in CORD11; decreased interaction with Crx and increased transactivation activity, MIM: 610381</ul>			DNA-binding	GO:0003677			O54751	<li>Age-related macular degeneration type 6 (ARMD6) [MIM:603075]</li><li>Cone-rod dystrophy type 11 (CORD11) [MIM:610381]</li>		2
Q96IV0	55768	<ul><li>V->I at 581: in dbSNP:rs7621398<li>Q->R at 591: in dbSNP:rs7635089</ul>									<li>rs7621398</li><li>rs7635089</li>	2
Q96IV6	10826	<ul><li>R->H at 133: in dbSNP:rs17641488</ul>									rs17641488	2
Q96IW2	56961	<ul><li>G->S at 138: in dbSNP:rs2287714<li>N->S at 270: in dbSNP:rs888930</ul>									<li>rs2287714</li><li>rs888930</li>	2
Q96IY1	25936	<ul><li>S->F at 4: in dbSNP:rs17856201<li>M->V at 254: in dbSNP:rs15702</ul>									<li>rs17856201</li><li>rs15702</li>	2
Q96IY4	1361	<ul><li>A->T at 169: in dbSNP:rs3742264<li>T->I at 347: in dbSNP:rs1926447</ul>									<li>rs1926447</li><li>rs3742264</li>	2
Q96IZ0	5074	<ul><li>P->L at 42: in dbSNP rsrs8176804<li>P->R at 78: in dbSNP:rs8176805<li>G->A at 137: in dbSNP rsrs8176806<li>E->A at 202: in dbSNP:rs8176870</ul>									<li>rs8176805</li><li>rs8176806</li><li>rs8176804</li><li>rs8176870</li>	2
Q96IZ2	84830	<ul><li>V->I at 202: in dbSNP:rs2076185</ul>									rs2076185	2
Q96IZ5	55285	<ul><li>H->Y at 376: in dbSNP:rs17850127</ul>									rs17850127	2
Q96J42	79770	<ul><li>S->P at 248: in a breast cancer sample; somatic mutation</ul>										2
Q96J65	94160	<ul><li>I->L at 9: in dbSNP:rs16945901<li>A->E at 102: in dbSNP:rs16945874<li>N->Y at 587: in dbSNP:rs16945816<li>E->V at 690: in dbSNP:rs34135219<li>K->M at 894: in dbSNP:rs8057474<li>T->S at 989: in dbSNP:rs6500305<li>Y->H at 1013: in dbSNP:rs6500304<li>R->C at 1117: in dbSNP:rs7193955<li>I->T at 1187: in dbSNP:rs34106426<li>E->A at 1191: in dbSNP:rs16945787<li>F->L at 1349: in dbSNP:rs12373105</ul>									<li>rs6500305</li><li>rs16945816</li><li>rs16945787</li><li>rs7193955</li><li>rs16945874</li><li>rs34106426</li><li>rs34135219</li><li>rs12373105</li><li>rs16945901</li><li>rs6500304</li><li>rs8057474</li>	2
Q96J66	85320	<ul><li>R->H at 19: in dbSNP:rs16945988<li>G->R at 180: in dry earwax phenotype; reduced transport activity; dbSNP:rs17822931<li>A->E at 317: in dbSNP:rs11863236<li>T->M at 546: in dbSNP:rs17822471<li>V->I at 648: in dbSNP:rs16945930<li>V->I at 687: in dbSNP:rs16945928<li>K->R at 735: in dbSNP:rs16945926<li>H->R at 1344: in dbSNP:rs16945916</ul>	transport	GO:0006810							<li>rs11863236</li><li>rs17822931</li><li>rs16945930</li><li>rs17822471</li><li>rs16945926</li><li>rs16945916</li><li>rs16945988</li><li>rs16945928</li>	2
Q96J77	89882	<ul><li>L->F at 118: in dbSNP:rs3847262</ul>									rs3847262	2
Q96J86	116159	<ul><li>R->H at 95: in dbSNP:rs35253087<li>P->S at 111</ul>									rs35253087	2
Q96J87	60677	<ul><li>R->P at 152: in dbSNP:rs34566074</ul>									rs34566074	2
Q96J92	65266	<ul><li>E->D at 434: in an ovarian mucinous carcinoma sample; somatic mutation<li>E->K at 562: in PHAII, MIM: 145260<li>D->A at 564: in PHAII, MIM: 145260<li>Q->E at 565: in PHAII, MIM: 145260<li>R->W at 677: in dbSNP:rs9896991, MIM: 145260<li>P->L at 813, MIM: 145260<li>P->S at 961: in dbSNP:rs2290041, MIM: 145260<li>P->S at 992: in a metastatic melanoma sample; somatic mutation, MIM: 145260<li>L->P at 1013, MIM: 145260<li>R->C at 1185: in PHAII, MIM: 145260</ul>								Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	<li>rs9896991</li><li>rs2290041</li>	2
Q96J94	9271	<ul><li>K->N at 491: in dbSNP:rs17856812<li>R->K at 527: in dbSNP:rs1106042<li>L->P at 575: in dbSNP:rs17852568</ul>									<li>rs17852568</li><li>rs17856812</li><li>rs1106042</li>	2
Q96JA1	26018	<ul><li>L->V at 24: in dbSNP:rs1403626<li>M->V at 615: in dbSNP:rs2306272<li>G->S at 926: in dbSNP:rs9877201<li>A->T at 957: in dbSNP:rs332373<li>G->A at 993: in dbSNP:rs2279289<li>P->R at 1031: in dbSNP:rs332374<li>Q->P at 1053: in dbSNP:rs2279290</ul>									<li>rs2306272</li><li>rs2279289</li><li>rs1403626</li><li>rs332373</li><li>rs332374</li><li>rs9877201</li><li>rs2279290</li>	2
Q96JA3	84725	<ul><li>V->E at 368: in a breast cancer sample; somatic mutation</ul>										2
Q96JA4	84689	<ul><li>Y->N at 177: in dbSNP:rs7131283<li>R->G at 584: in dbSNP:rs3825020</ul>									<li>rs3825020</li><li>rs7131283</li>	2
Q96JB1	1769	<ul><li>N->S at 71: in dbSNP:rs6935293<li>G->R at 473: in dbSNP:rs1738254<li>I->V at 573: in dbSNP:rs3823430<li>A->T at 727: in dbSNP:rs1678674<li>G->E at 807: in dbSNP:rs874808<li>E->K at 1202: in dbSNP:rs9357283<li>T->M at 2226: in a colorectal cancer sample; somatic mutation<li>T->N at 2444: in dbSNP:rs862432<li>T->M at 4106: in dbSNP:rs1537232<li>I->V at 4271: in dbSNP:rs10484847</ul>									<li>rs9357283</li><li>rs1738254</li><li>rs1537232</li><li>rs6935293</li><li>rs10484847</li><li>rs3823430</li><li>rs874808</li><li>rs862432</li><li>rs1678674</li>	2
Q96JB2	83548	<ul><li>R->C at 620: in a breast cancer sample; somatic mutation</ul>										2
Q96JB5	80279	<ul><li>L->V at 324: in dbSNP:rs35054799</ul>									rs35054799	2
Q96JB6	84171	<ul><li>R->Q at 154: in dbSNP:rs33995374<li>D->A at 405: in dbSNP:rs1983864</ul>									<li>rs1983864</li><li>rs33995374</li>	2
Q96JB8	58538	<ul><li>S->G at 44: in dbSNP:rs6725443<li>V->I at 562: in dbSNP:rs11894115</ul>									<li>rs11894115</li><li>rs6725443</li>	2
Q96JD4	85411	<ul><li>C->S at 134: in dbSNP:rs766773</ul>									rs766773	2
Q96JD6	83592	<ul><li>C->G at 52: in dbSNP:rs35429729<li>K->R at 86: in dbSNP:rs17133693</ul>									<li>rs17133693</li><li>rs35429729</li>	2
Q96JE7	89866	<ul><li>H->R at 292: in dbSNP:rs12040910<li>G->R at 730: in dbSNP:rs943762<li>Q->H at 845: in dbSNP:rs7522194<li>P->A at 864: in dbSNP:rs591120<li>S->N at 873: in dbSNP:rs3813649</ul>									<li>rs7522194</li><li>rs12040910</li><li>rs943762</li><li>rs591120</li><li>rs3813649</li>	2
Q96JE9	4135	<ul><li>I->M at 247: in dbSNP:rs12225010</ul>									rs12225010	2
Q96JF0	84620	<ul><li>G->R at 154: in dbSNP:rs3796110<li>I->V at 341: in dbSNP:rs12615112</ul>									<li>rs12615112</li><li>rs3796110</li>	2
Q96JF6	84622	<ul><li>I->T at 171: in dbSNP:rs9908414<li>V->G at 199: in dbSNP:rs3853648</ul>									<li>rs3853648</li><li>rs9908414</li>	2
Q96JG9	84627	<ul><li>R->S at 366: in dbSNP:rs11640794<li>K->E at 1162: in dbSNP:rs7197071<li>P->L at 1420: in dbSNP:rs4782300<li>R->K at 2129: in dbSNP:rs13334190<li>G->R at 2358: in dbSNP:rs12598474<li>L->Q at 2670: in dbSNP:rs3812956<li>A->T at 2710: in dbSNP:rs3812955<li>D->V at 2749: in dbSNP:rs3812954<li>H->R at 2848: in dbSNP:rs1983014<li>E->Q at 3630: in dbSNP:rs1105066<li>T->A at 3636: in dbSNP:rs904783</ul>									<li>rs904783</li><li>rs12598474</li><li>rs13334190</li><li>rs1105066</li><li>rs1983014</li><li>rs3812954</li><li>rs4782300</li><li>rs3812956</li><li>rs3812955</li><li>rs7197071</li><li>rs11640794</li>	2
Q96JH8	55698	<ul><li>D->N at 239: in dbSNP:rs3763384<li>H->D at 412: in dbSNP:rs2292498<li>G->S at 886: in dbSNP:rs414035</ul>									<li>rs414035</li><li>rs2292498</li><li>rs3763384</li>	2
Q96JI7	80208	<ul><li>Y->C at 396: in dbSNP:rs3759875<li>S->F at 463: in dbSNP:rs3759871</ul>									<li>rs3759875</li><li>rs3759871</li>	2
Q96JJ3	63916	<ul><li>E->D at 695: in dbSNP:rs34630674</ul>									rs34630674	2
Q96JJ7	54495	<ul><li>P->S at 61: in dbSNP:rs11557684</ul>									rs11557684	2
Q96JK9	55534	<ul><li>Missing  at 764: in dbSNP:rs3051167 and dbSNP:rs35574913</ul>									rs3051167 and dbSNP:rs35574913	2
Q96JL9	84449	<ul><li>A->E at 251: in dbSNP:rs3885179<li>A->V at 537: in dbSNP:rs3764626</ul>									<li>rs3764626</li><li>rs3885179</li>	2
Q96JM3	283489	<ul><li>L->V at 568: in dbSNP:rs3764522<li>K->R at 591: in dbSNP:rs35564629<li>P->R at 604: in dbSNP:rs12428067</ul>									<li>rs3764522</li><li>rs12428067</li><li>rs35564629</li>	2
Q96JM4	84125	<ul><li>I->N at 29: in dbSNP:rs7312075<li>C->Y at 83: in dbSNP:rs3765044<li>A->T at 912: in dbSNP:rs17012533</ul>									<li>rs7312075</li><li>rs17012533</li><li>rs3765044</li>	2
Q96JM7	84456	<ul><li>T->N at 183: in dbSNP:rs9388768</ul>									rs9388768	2
Q96JN2	64753	<ul><li>D->H at 218: in dbSNP:rs3816887<li>E->Q at 1049: in dbSNP:rs4728137</ul>									<li>rs4728137</li><li>rs3816887</li>	2
Q96JN8	84461	<ul><li>Q->H at 1019: in dbSNP:rs3809813</ul>									rs3809813	2
Q96JP0	56929	<ul><li>D->N at 434: in a breast cancer sample; somatic mutation<li>D->N at 462: in a breast cancer sample; somatic mutation</ul>										2
Q96JP5	80829	<ul><li>V->I at 37: in dbSNP:rs17854702<li>S->G at 207: in dbSNP:rs8373</ul>									<li>rs8373</li><li>rs17854702</li>	2
Q96JP9	92211	<ul><li>H->Q at 53: in dbSNP:rs12781048<li>A->T at 212<li>A->V at 243: in dbSNP:rs7086200<li>P->A at 532</ul>									<li>rs12781048</li><li>rs7086200</li>	2
Q96JQ0	8642	<ul><li>R->W at 1583: in a colorectal cancer sample; somatic mutation<li>T->M at 1949: in dbSNP:rs4758443<li>V->I at 2331: in dbSNP:rs7924553<li>R->C at 2359: in dbSNP:rs2659875</ul>									<li>rs7924553</li><li>rs4758443</li><li>rs2659875</li>	2
Q96JQ2	79789	<ul><li>P->L at 963: in dbSNP:rs10149705</ul>									rs10149705	2
Q96JQ5	51338	<ul><li>K->E at 52: in dbSNP:rs10750931<li>M->V at 178: in dbSNP:rs6591561</ul>									<li>rs10750931</li><li>rs6591561</li>	2
Q96JS3	84547	<ul><li>G->E at 244: in dbSNP:rs3800324<li>G->R at 244: in dbSNP:rs3800324<li>Q->E at 248: in dbSNP:rs3800325<li>P->L at 256: in dbSNP:rs3800326<li>N->S at 398: in dbSNP:rs33932084<li>M->I at 592: in dbSNP:rs16893917<li>I->V at 678: in dbSNP:rs1997660<li>H->D at 806: in dbSNP:rs6456811</ul>									<li>rs3800326</li><li>rs1997660</li><li>rs3800325</li><li>rs6456811</li><li>rs16893917</li><li>rs33932084</li><li>rs3800324</li>	2
Q96JX3	84947	<ul><li>S->T at 543: in dbSNP:rs17849527</ul>									rs17849527	2
Q96JY0	84944	<ul><li>S->A at 41: in dbSNP:rs11578336</ul>									rs11578336	2
Q96K12	55711	<ul><li>F->S at 326: in dbSNP:rs17400011<li>I->T at 329: in dbSNP:rs17404064</ul>									<li>rs17400011</li><li>rs17404064</li>	2
Q96K30	84934	<ul><li>S->W at 113: in dbSNP:rs16942601<li>T->K at 220: in dbSNP:rs34831139</ul>									<li>rs16942601</li><li>rs34831139</li>	2
Q96K58	79759	<ul><li>L->V at 25: in dbSNP:rs2032917<li>A->T at 66: in a breast cancer sample; somatic mutation<li>G->S at 286: in a breast cancer sample; somatic mutation<li>G->E at 304: in dbSNP:rs17851949<li>T->R at 331: in a breast cancer sample; somatic mutation<li>A->V at 447: in dbSNP:rs8046978<li>R->Q at 556: in a breast cancer sample; somatic mutation</ul>									<li>rs17851949</li><li>rs2032917</li><li>rs8046978</li>	2
Q96K62	84878	<ul><li>D->E at 293: in dbSNP:rs35430780</ul>									rs35430780	2
Q96K76	55031	<ul><li>V->G at 163: in dbSNP:rs11022079</ul>									rs11022079	2
Q96K78	84873	<ul><li>K->E at 151: in dbSNP:rs1144122<li>T->S at 645: in dbSNP:rs16842529<li>R->H at 756: in dbSNP:rs9872512</ul>									<li>rs9872512</li><li>rs16842529</li><li>rs1144122</li>	2
Q96KA5	81037	<ul><li>K->N at 313: in a breast cancer sample; somatic mutation<li>T->M at 537: in dbSNP:rs33955038</ul>									rs33955038	2
Q96KB5	55872	<ul><li>N->S at 107: in dbSNP:rs3779620<li>E->D at 220: in dbSNP:rs17057901<li>M->L at 241: in dbSNP rsrs36086402</ul>									<li>rs17057901</li><li>rs36086402</li><li>rs3779620</li>	2
Q96KC9	85438	<ul><li>K->Q at 76: in dbSNP:rs3796706<li>I->T at 211: in dbSNP:rs1351419<li>W->G at 298: in dbSNP:rs2291182</ul>									<li>rs2291182</li><li>rs1351419</li><li>rs3796706</li>	2
Q96KD3	84691	<ul><li>S->L at 228: in dbSNP:rs6949056<li>E->K at 242: in dbSNP:rs6971091</ul>									<li>rs6949056</li><li>rs6971091</li>	2
Q96KF2	84366	<ul><li>A->V at 4: in dbSNP:rs34734055</ul>									rs34734055	2
Q96KG7	84466	<ul><li>V->I at 206: in dbSNP:rs3812054<li>P->L at 897: in dbSNP:rs13183625<li>R->K at 1072: in dbSNP:rs17164935</ul>									<li>rs3812054</li><li>rs17164935</li><li>rs13183625</li>	2
Q96KG9	57410	<ul><li>P->L at 479: in dbSNP rsrs55977709<li>H->Y at 495: in a metastatic melanoma sample; somatic mutation<li>Q->H at 663: in dbSNP rsrs56076708<li>W->S at 755: in dbSNP rsrs56077405</ul>									<li>rs56077405</li><li>rs55977709</li><li>rs56076708</li>	2
Q96KJ4		<ul><li>A->T at 139: in dbSNP:rs12599363<li>D->V at 463: in dbSNP:rs12599363<li>S->G at 597: in dbSNP:rs9746539</ul>									<li>rs12599363</li><li>rs9746539</li>	2
Q96KJ9	84701	<ul><li>R->H at 161: in dbSNP:rs11907253</ul>									rs11907253	2
Q96KK3	3787	<ul><li>I->V at 489: in dbSNP:rs734784<li>Q->R at 508: in dbSNP:rs7264544</ul>									<li>rs7264544</li><li>rs734784</li>	2
Q96KK4	442194	<ul><li>P->S at 57: in dbSNP:rs17184016<li>F->L at 60: in dbSNP:rs2074469<li>R->S at 89: in dbSNP:rs11755182<li>M->V at 100: in dbSNP:rs17177632<li>R->C at 121: in dbSNP:rs17177639<li>R->W at 138: in dbSNP:rs17177646<li>P->S at 160: in dbSNP:rs2074468<li>F->L at 161: in dbSNP:rs2074467<li>P->Q at 174: in dbSNP:rs2074466<li>V->M at 246: in dbSNP:rs2074464<li>L->I at 255: in dbSNP:rs17177674<li>M->R at 310: in dbSNP:rs11968123</ul>									<li>rs2074466</li><li>rs17177639</li><li>rs11755182</li><li>rs2074467</li><li>rs2074468</li><li>rs2074469</li><li>rs17184016</li><li>rs11968123</li><li>rs17177632</li><li>rs17177674</li><li>rs2074464</li><li>rs17177646</li>	2
Q96KM6	57473	<ul><li>M->V at 372: in dbSNP:rs817326<li>A->T at 453: in dbSNP:rs6062599</ul>									<li>rs817326</li><li>rs6062599</li>	2
Q96KN2	84735	<ul><li>G->R at 6: in dbSNP:rs11151964<li>L->LL at 20<li>V->I at 113: in dbSNP:rs4263028</ul>									<li>rs11151964</li><li>rs4263028</li>	2
Q96KN3	63876	<ul><li>E->K at 110: in dbSNP:rs34936365<li>Missing at 447</ul>									rs34936365	2
Q96KN7	57096	<ul><li>K->E at 192: in dbSNP:rs6571751<li>A->S at 547: in CORD9; dbSNP:rs10151259: in dbSNP rsrs61722408,rs34263042,rs10151259, MIM: 608194<li>S->L at 601: in dbSNP:rs3748360, MIM: 608194<li>G->E at 746: in LCA6, MIM: 605446<li>R->L at 827: in CORD9: in dbSNP rsrs28937883, MIM: 608194<li>Q->E at 1033: in dbSNP:rs3748361, MIM: 608194<li>D->G at 1114: in LCA6; dbSNP:rs17103671, MIM: 605446</ul>								<li>Cone-rod dystrophy type 9 (CORD9) [MIM:608194]</li><li>Leber congenital amaurosis type 6 (LCA6) [MIM:605446]</li>	<li>rs3748361</li><li>rs3748360</li><li>rs6571751</li><li>rs10151259</li><li>rs34263042</li><li>rs28937883</li><li>rs61722408</li><li>rs17103671</li>	2
Q96KN8	117245	<ul><li>G->S at 31: in dbSNP:rs10897424<li>A->P at 93: in dbSNP:rs940611<li>Q->R at 214: in dbSNP:rs35735923<li>A->V at 258: in dbSNP:rs35375575</ul>									<li>rs10897424</li><li>rs35375575</li><li>rs940611</li><li>rs35735923</li>	2
Q96KN9	219770	<ul><li>A->V at 90: in dbSNP:rs35398622<li>R->H at 269: in a colorectal cancer sample; somatic mutation<li>G->R at 271: in a colorectal cancer sample; somatic mutation</ul>									rs35398622	2
Q96KP1	55770	<ul><li>N->T at 195: in dbSNP:rs35600069</ul>									rs35600069	2
Q96KQ7	10919	<ul><li>T->N at 55: in dbSNP:rs7887<li>Y->F at 1165: in dbSNP:rs13919</ul>									<li>rs7887</li><li>rs13919</li>	2
Q96KR1	51663	<ul><li>V->I at 461: in dbSNP:rs4867440<li>I->T at 520: in dbSNP:rs1051489</ul>									<li>rs1051489</li><li>rs4867440</li>	2
Q96KR6	116151	<ul><li>P->S at 126: in dbSNP:rs6099115</ul>									rs6099115	2
Q96KR7	116154	<ul><li>P->L at 154: in dbSNP:rs2277759</ul>									rs2277759	2
Q96KV6	54718	<ul><li>G->D at 79: in dbSNP:rs7745238<li>V->I at 148: in dbSNP:rs10946829<li>N->S at 300: in dbSNP:rs2893848</ul>									<li>rs2893848</li><li>rs7745238</li><li>rs10946829</li>	2
Q96KV7	197335	<ul><li>S->T at 165: in dbSNP:rs13337278<li>P->L at 250: in dbSNP:rs11642546<li>V->A at 537: in dbSNP:rs3803697<li>P->T at 1001: in dbSNP:rs4984906<li>R->H at 1492: in dbSNP:rs7190775<li>C->R at 1555: in dbSNP:rs11866949</ul>									<li>rs13337278</li><li>rs4984906</li><li>rs11642546</li><li>rs7190775</li><li>rs11866949</li><li>rs3803697</li>	2
Q96KW9	122258	<ul><li>R->W at 25: in a colorectal cancer sample; somatic mutation<li>V->D at 111: in dbSNP:rs10816</ul>									rs10816	2
Q96KX1	132989	<ul><li>S->Y at 36: in dbSNP:rs1550931</ul>									rs1550931	2
Q96L03	128153	<ul><li>N->S at 16: in dbSNP:rs34652544</ul>									rs34652544	2
Q96L08	203328	<ul><li>K->E at 136: in dbSNP:rs1131773<li>S->T at 140: in a breast cancer sample; somatic mutation</ul>									rs1131773	2
Q96L12	125972	<ul><li>L->F at 8: in dbSNP:rs17851207 and dbSNP:rs11544148<li>D->G at 248: in dbSNP:rs10411092<li>V->I at 274: in dbSNP:rs12459238<li>D->N at 284: in dbSNP:rs10404156</ul>									<li>rs10404156</li><li>rs10411092</li><li>rs12459238</li><li>rs17851207 and dbSNP:rs11544148</li>	2
Q96L16		<ul><li>N->S at 52: in dbSNP:rs11885953</ul>									rs11885953	2
Q96L34	57787	<ul><li>R->Q at 377: in dbSNP rsrs35070611<li>R->C at 418: in a colorectal adenocarcinoma sample; somatic mutation</ul>									rs35070611	2
Q96L50	122769	<ul><li>I->N at 96: in dbSNP:rs17121605<li>R->W at 229: in dbSNP:rs7148147</ul>									<li>rs7148147</li><li>rs17121605</li>	2
Q96L73	64324	<ul><li>V->L at 614: in dbSNP:rs3733875<li>A->T at 691: in dbSNP rsrs28932177<li>S->P at 726: in dbSNP:rs28932178<li>A->P at 1036: in dbSNP rsrs28932179<li>L->I at 1091: in dbSNP rsrs35597015<li>H->L at 1616: in Sotos syndrome, MIM: 117550<li>L->P at 1637: in Sotos syndrome, MIM: 117550<li>C->W at 1674: in Sotos syndrome, MIM: 117550<li>I->N at 1687: in Sotos syndrome, MIM: 117550<li>G->V at 1792: in Sotos syndrome, MIM: 117550<li>C->R at 1925: in Sotos syndrome, MIM: 117550<li>G->D at 1955: in Sotos syndrome, MIM: 117550<li>R->Q at 1984: in Sotos syndrome, MIM: 117550<li>Y->C at 1997: in WES, MIM: 277590<li>R->Q at 2005: in Sotos syndrome, MIM: 117550<li>R->Q at 2017: in Sotos syndrome, MIM: 117550<li>R->W at 2017: in Sotos syndrome, MIM: 117550<li>H->Q at 2143: in WES, MIM: 277590<li>C->S at 2183: in WES, MIM: 277590<li>M->I at 2250: in dbSNP rsrs35848863, MIM: 277590<li>M->T at 2261: in dbSNP rsrs34165241, MIM: 277590</ul>								<li>Weaver syndrome (WES) [MIM:277590]</li><li>Sotos syndrome [MIM:117550]</li>	<li>rs34165241</li><li>rs3733875</li><li>rs28932179</li><li>rs35597015</li><li>rs28932177</li><li>rs28932178</li><li>rs35848863</li>	2
Q96L91	57634	<ul><li>T->I at 1308: in dbSNP:rs13377636</ul>									rs13377636	2
Q96L93	55614	<ul><li>K->T at 772: in a breast cancer sample; somatic mutation<li>G->R at 810: in dbSNP:rs2236145<li>R->S at 824: in dbSNP:rs2236144<li>M->T at 1027: in dbSNP:rs6034464<li>N->S at 1119: in dbSNP:rs8123195</ul>									<li>rs6034464</li><li>rs2236145</li><li>rs2236144</li><li>rs8123195</li>	2
Q96L96	57538	<ul><li>R->H at 336: in dbSNP rsrs34407151<li>T->I at 338: in dbSNP rsrs56015306<li>T->S at 414: in dbSNP:rs3803403<li>Q->E at 433: in a lung large cell carcinoma sample; somatic mutation<li>G->E at 579: in dbSNP:rs3803405<li>Q->R at 602: in dbSNP rsrs55702300<li>G->D at 663: in dbSNP rsrs34409363<li>T->M at 761: in dbSNP:rs16974569<li>R->L at 836: in dbSNP rsrs34906636<li>E->D at 929: in dbSNP rsrs56191073<li>L->P at 1299: in dbSNP:rs306197<li>G->E at 1364: in a metastatic melanoma sample; somatic mutation<li>R->W at 1412: in dbSNP rsrs55752937<li>A->D at 1557: in dbSNP rsrs34775428<li>L->P at 1622: in dbSNP:rs187316</ul>									<li>rs34906636</li><li>rs34407151</li><li>rs55702300</li><li>rs3803403</li><li>rs56191073</li><li>rs55752937</li><li>rs16974569</li><li>rs34775428</li><li>rs187316</li><li>rs306197</li><li>rs3803405</li><li>rs34409363</li><li>rs56015306</li>	2
Q96LA5	79368	<ul><li>I->N at 202: in dbSNP:rs16839100</ul>									rs16839100	2
Q96LA6	115350	<ul><li>V->M at 124: in dbSNP:rs12078586</ul>									rs12078586	2
Q96LA9	117196	<ul><li>F->L at 8: in dbSNP:rs2468774<li>N->K at 25: in dbSNP:rs2445180<li>Y->C at 54: in dbSNP:rs1869788<li>S->L at 83: in dbSNP:rs2445179<li>A->V at 182: in dbSNP:rs11024532<li>N->S at 245: in dbSNP:rs7102322</ul>									<li>rs1869788</li><li>rs11024532</li><li>rs2445179</li><li>rs2468774</li><li>rs2445180</li><li>rs7102322</li>	2
Q96LB0	117195	<ul><li>C->R at 82: in dbSNP:rs12291017<li>D->N at 169: in dbSNP:rs4274188</ul>									<li>rs4274188</li><li>rs12291017</li>	2
Q96LB1	117194	<ul><li>N->H at 16: in dbSNP:rs11024970<li>V->I at 43: in dbSNP:rs11823569<li>N->S at 62: in dbSNP:rs10833049<li>F->L at 78</ul>									<li>rs11823569</li><li>rs11024970</li><li>rs10833049</li>	2
Q96LB2	259249	<ul><li>I->V at 36: in dbSNP:rs11024885</ul>									rs11024885	2
Q96LB3	80173	<ul><li>I->M at 55: in dbSNP:rs10812505<li>T->A at 110: in dbSNP:rs12004404<li>F->L at 224: in dbSNP:rs17694549<li>N->T at 355: in dbSNP:rs34628525<li>T->I at 597: in dbSNP:rs3429</ul>									<li>rs10812505</li><li>rs17694549</li><li>rs12004404</li><li>rs3429</li><li>rs34628525</li>	2
Q96LB4	127124	<ul><li>E->Q at 54: in dbSNP:rs16843254</ul>									rs16843254	2
Q96LB8	57115	<ul><li>P->L at 3: in dbSNP:rs12096209<li>I->L at 13: in dbSNP:rs3006458<li>Q->R at 92: in dbSNP:rs3006453<li>G->V at 192: in dbSNP:rs3006448<li>V->I at 213: in dbSNP:rs12063091<li>D->N at 301: in dbSNP:rs35347202</ul>									<li>rs3006448</li><li>rs3006458</li><li>rs3006453</li><li>rs12096209</li><li>rs35347202</li><li>rs12063091</li>	2
Q96LB9	114771	<ul><li>G->S at 126: in dbSNP:rs843971</ul>									rs843971	2
Q96LC7	89790	<ul><li>A->V at 226: in dbSNP:rs9304711<li>R->S at 520: in dbSNP:rs1833785</ul>									<li>rs9304711</li><li>rs1833785</li>	2
Q96LD8	123228	<ul><li>T->A at 207: in dbSNP:rs930871</ul>									rs930871	2
Q96LI9	254158	<ul><li>R->C at 24: in dbSNP:rs2707164<li>R->H at 187: in dbSNP:rs16982852</ul>									<li>rs16982852</li><li>rs2707164</li>	2
Q96LJ7	115817	<ul><li>T->I at 241: in dbSNP:rs10134537</ul>									rs10134537	2
Q96LL9	84277	<ul><li>G->R at 34: in dbSNP:rs1128349<li>F->L at 167: in dbSNP:rs13244259</ul>									<li>rs1128349</li><li>rs13244259</li>	2
Q96LM5		<ul><li>A->V at 46: in dbSNP:rs17037864<li>S->G at 75: in dbSNP:rs662473<li>Y->C at 84: in dbSNP:rs17037858<li>G->E at 93: in dbSNP:rs619128<li>R->H at 134: in dbSNP:rs10517695</ul>									<li>rs662473</li><li>rs10517695</li><li>rs17037864</li><li>rs619128</li><li>rs17037858</li>	2
Q96LM6	200523	<ul><li>D->N at 24: in dbSNP:rs35750657</ul>									rs35750657	2
Q96LM9		<ul><li>K->E at 141: in dbSNP:rs7261862</ul>									rs7261862	2
Q96LP6	374470	<ul><li>D->E at 11: in dbSNP:rs10778257<li>P->R at 182: in dbSNP:rs7484376</ul>									<li>rs7484376</li><li>rs10778257</li>	2
Q96LQ0	145376	<ul><li>T->I at 83: in dbSNP:rs6573560</ul>									rs6573560	2
Q96LR1		<ul><li>Y->C at 132: in dbSNP:rs393152</ul>									rs393152	2
Q96LS8	348738	<ul><li>P->L at 90: in dbSNP:rs13406078<li>W->S at 119: in dbSNP:rs7423163</ul>									<li>rs13406078</li><li>rs7423163</li>	2
Q96LT6	148304	<ul><li>L->F at 146: in dbSNP:rs7550857</ul>									rs7550857	2
Q96LT7	203228	<ul><li>N->S at 207: in dbSNP:rs17769294</ul>									rs17769294	2
Q96LU7		<ul><li>S->L at 88: in dbSNP:rs35051828<li>A->S at 118: in dbSNP:rs11177991<li>M->L at 210: in dbSNP:rs10879065</ul>									<li>rs10879065</li><li>rs11177991</li><li>rs35051828</li>	2
Q96LW4	201973	<ul><li>R->Q at 168: in dbSNP:rs2463447<li>T->K at 505: in dbSNP:rs14969</ul>									<li>rs2463447</li><li>rs14969</li>	2
Q96LW9	64288	<ul><li>T->S at 50: in dbSNP:rs853678<li>A->P at 128: in dbSNP:rs6922302<li>K->R at 205: in dbSNP:rs853684<li>R->Q at 222: in dbSNP:rs34223404</ul>									<li>rs853684</li><li>rs6922302</li><li>rs34223404</li><li>rs853678</li>	2
Q96LX7	149483	<ul><li>P->L at 321: in dbSNP:rs3014242<li>I->V at 525: in dbSNP:rs2297654</ul>									<li>rs2297654</li><li>rs3014242</li>	2
Q96LX8	146434	<ul><li>T->S at 30: in dbSNP:rs2270493</ul>									rs2270493	2
Q96LY2	91409	<ul><li>T->M at 169: in dbSNP:rs2599971<li>R->H at 346: in dbSNP:rs3177472</ul>									<li>rs2599971</li><li>rs3177472</li>	2
Q96LZ2	139422	<ul><li>F->S at 50: in dbSNP:rs1368769<li>R->Q at 65: in dbSNP:rs12557898</ul>									<li>rs1368769</li><li>rs12557898</li>	2
Q96LZ7	151393	<ul><li>G->D at 259: in dbSNP:rs4670800</ul>									rs4670800	2
Q96M02	118611	<ul><li>M->I at 57: in dbSNP:rs11558415<li>R->H at 134: in dbSNP:rs11245008<li>D->N at 262: in dbSNP:rs11245007<li>D->E at 531: in dbSNP:rs12412320</ul>									<li>rs11245007</li><li>rs11245008</li><li>rs12412320</li><li>rs11558415</li>	2
Q96M11	219844	<ul><li>C->R at 31: in dbSNP:rs667782<li>D->G at 211: in HLS1; altered subcellular localization, becomes localized to nuclear structures, MIM: 236680</ul>	localization	GO:0051179						Hydrolethalus syndrome type 1 (HLS1) [MIM:236680]	rs667782	2
Q96M29	146279	<ul><li>A->T at 59: in dbSNP:rs16957557<li>H->R at 196: in dbSNP:rs16957546<li>M->T at 239: in dbSNP:rs17684500<li>Q->R at 315: in dbSNP:rs2719710</ul>									<li>rs17684500</li><li>rs2719710</li><li>rs16957546</li><li>rs16957557</li>	2
Q96M32	122481	<ul><li>R->Q at 102: in dbSNP:rs2369679</ul>									rs2369679	2
Q96M34	152405	<ul><li>N->T at 45: in dbSNP:rs4687838<li>D->G at 99: in dbSNP:rs11550908<li>Q->H at 193: in dbSNP:rs9859242<li>G->S at 312: in dbSNP:rs4077930<li>D->E at 473: in dbSNP:rs9289122</ul>									<li>rs9289122</li><li>rs4687838</li><li>rs4077930</li><li>rs11550908</li><li>rs9859242</li>	2
Q96M53	219793	<ul><li>Q->R at 237: in dbSNP:rs2254174</ul>									rs2254174	2
Q96M61	286514	<ul><li>S->P at 40: in dbSNP:rs5944317</ul>									rs5944317	2
Q96M63	93233	<ul><li>R->H at 329: in dbSNP:rs35361179<li>P->L at 468: in dbSNP:rs35461177</ul>									<li>rs35461177</li><li>rs35361179</li>	2
Q96M66		<ul><li>R->H at 37: in dbSNP:rs350229<li>R->S at 171: in dbSNP:rs11648228</ul>									<li>rs350229</li><li>rs11648228</li>	2
Q96M69	136332	<ul><li>D->Y at 302: in dbSNP:rs17167553<li>A->V at 661: in dbSNP:rs35149449</ul>									<li>rs17167553</li><li>rs35149449</li>	2
Q96M78		<ul><li>S->L at 92: in dbSNP:rs13258808</ul>									rs13258808	2
Q96M83	221016	<ul><li>K->T at 449: in dbSNP:rs12268559</ul>									rs12268559	2
Q96M86	144132	<ul><li>R->H at 98: in dbSNP:rs10769699<li>I->T at 934: in dbSNP:rs11604362</ul>									<li>rs11604362</li><li>rs10769699</li>	2
Q96M89	165055	<ul><li>D->Y at 99: in dbSNP:rs35794776<li>R->K at 115: in dbSNP:rs6740879</ul>									<li>rs6740879</li><li>rs35794776</li>	2
Q96M91	220136	<ul><li>R->C at 231: in dbSNP:rs12607385<li>E->K at 294: in dbSNP:rs35193847</ul>									<li>rs12607385</li><li>rs35193847</li>	2
Q96M95	146849	<ul><li>A->T at 144: in dbSNP:rs2288156</ul>									rs2288156	2
Q96M96	121512	<ul><li>M->R at 298: in fibroblasts from a CMT4H patient; absent from patient's peripheral nerve where splicing defects and aberrant transcripts are detected: in dbSNP rsrs63749871<li>M->T at 298: in CMT4H, MIM: 609311</ul>								Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]	rs63749871	2
Q96MA6	158067	<ul><li>I->T at 5: in dbSNP:rs2231400<li>D->G at 130: in dbSNP:rs17407084</ul>									<li>rs17407084</li><li>rs2231400</li>	2
Q96MC2	92749	<ul><li>K->E at 357: in dbSNP:rs3795958<li>W->R at 399: in dbSNP:rs939820<li>V->F at 633: in dbSNP:rs12623642<li>S->I at 702: in dbSNP:rs3172008</ul>									<li>rs12623642</li><li>rs939820</li><li>rs3172008</li><li>rs3795958</li>	2
Q96MC9		<ul><li>G->A at 213: in dbSNP:rs2336940<li>P->S at 233: in dbSNP:rs11118256<li>T->M at 259: in dbSNP:rs17024805</ul>									<li>rs17024805</li><li>rs11118256</li><li>rs2336940</li>	2
Q96MD2	144577	<ul><li>I->M at 139: in dbSNP:rs2335390<li>S->A at 443: in dbSNP:rs699638</ul>									<li>rs2335390</li><li>rs699638</li>	2
Q96MF6	93058	<ul><li>P->H at 79: in dbSNP:rs11543258<li>P->S at 231: in dbSNP:rs3184994</ul>									<li>rs11543258</li><li>rs3184994</li>	2
Q96MF7	286053	<ul><li>L->F at 27: in a breast cancer sample; somatic mutation<li>V->A at 66: in dbSNP:rs11542104</ul>									rs11542104	2
Q96MG2	126306	<ul><li>V->A at 92: in dbSNP:rs10426549<li>R->Q at 233: in dbSNP:rs35356610</ul>									<li>rs10426549</li><li>rs35356610</li>	2
Q96MH7	375444	<ul><li>S->R at 266: in a breast cancer sample; somatic mutation</ul>										2
Q96MI9	123624	<ul><li>P->L at 417: in dbSNP:rs8029810<li>S->P at 435: in dbSNP:rs11857527</ul>									<li>rs11857527</li><li>rs8029810</li>	2
Q96MK2	140876	<ul><li>L->P at 580: in dbSNP:rs6020624</ul>									rs6020624	2
Q96MM6	116835	<ul><li>V->L at 23: in dbSNP:rs34414870</ul>									rs34414870	2
Q96MN2	147945	<ul><li>A->T at 144: in dbSNP:rs441827<li>E->D at 383: in dbSNP:rs17857373<li>P->Q at 390: in dbSNP:rs17857374<li>R->H at 708: in dbSNP:rs12462372<li>L->M at 774: in dbSNP:rs17854614<li>Q->L at 925: in dbSNP:rs302453</ul>									<li>rs17857373</li><li>rs17857374</li><li>rs441827</li><li>rs17854614</li><li>rs302453</li><li>rs12462372</li>	2
Q96MN9	118738	<ul><li>A->V at 72: in dbSNP:rs35618062<li>P->L at 106: in dbSNP:rs12251609<li>P->S at 249: in dbSNP:rs3814160</ul>									<li>rs12251609</li><li>rs35618062</li><li>rs3814160</li>	2
Q96MP5	140831	<ul><li>V->A at 259: in dbSNP:rs2903808</ul>									rs2903808	2
Q96MR6	149465	<ul><li>A->S at 183: in dbSNP:rs6663799<li>N->D at 241: in dbSNP:rs663824<li>C->S at 345: in dbSNP:rs11210805</ul>									<li>rs11210805</li><li>rs663824</li><li>rs6663799</li>	2
Q96MR9	147741	<ul><li>G->E at 186: in a colorectal cancer sample; somatic mutation<li>Y->C at 630: in dbSNP:rs10416098</ul>									rs10416098	2
Q96MS0	64221	<ul><li>L->P at 5: in HGPPS, MIM: 607313<li>I->L at 66: in HGPPS, MIM: 607313<li>E->K at 319: in HGPPS, MIM: 607313<li>G->E at 361: in HGPPS, MIM: 607313<li>R->H at 416: in dbSNP:rs3862618, MIM: 607313<li>V->M at 423: in dbSNP:rs4935898, MIM: 607313<li>R->P at 703: in HGPPS, MIM: 607313<li>S->P at 705: in HGPPS, MIM: 607313<li>Q->R at 1369: in dbSNP:rs35723495, MIM: 607313</ul>								Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	<li>rs35723495</li><li>rs4935898</li><li>rs3862618</li>	2
Q96MT4	154386	<ul><li>I->F at 2: in dbSNP:rs17135340<li>P->S at 43: in dbSNP:rs9503233</ul>									<li>rs9503233</li><li>rs17135340</li>	2
Q96MT7	55779	<ul><li>K->N at 284: in dbSNP:rs16845107</ul>									rs16845107	2
Q96MT8	80254	<ul><li>S->L at 651: in dbSNP:rs1127826</ul>									rs1127826	2
Q96MU5		<ul><li>S->R at 47: in dbSNP:rs493430</ul>									rs493430	2
Q96MU7	91746	<ul><li>H->R at 183: in dbSNP:rs3813832</ul>									rs3813832	2
Q96MW5	84342	<ul><li>L->R at 517: in dbSNP:rs3027</ul>									rs3027	2
Q96MX3	197407	<ul><li>V->A at 65: in dbSNP:rs12921440<li>I->V at 224: in dbSNP:rs34843513</ul>									<li>rs34843513</li><li>rs12921440</li>	2
Q96MX6	116143	<ul><li>M->V at 241: in dbSNP:rs13009282</ul>									rs13009282	2
Q96MY7	145483	<ul><li>G->A at 11: in dbSNP:rs11848954<li>L->P at 622: in dbSNP:rs17094077</ul>									<li>rs11848954</li><li>rs17094077</li>	2
Q96MZ0	78997	<ul><li>R->W at 141: in a colorectal cancer sample; somatic mutation</ul>										2
Q96MZ4	152756	<ul><li>H->R at 54: in dbSNP:rs3733418</ul>									rs3733418	2
Q96N06	124045	<ul><li>S->L at 45: in dbSNP:rs13329897</ul>									rs13329897	2
Q96N16	152789	<ul><li>K->R at 251<li>A->V at 375: in a colorectal cancer sample; somatic mutation</ul>										2
Q96N20	7627	<ul><li>V->A at 84: in dbSNP:rs17611866<li>Q->E at 228: in a breast cancer sample; somatic mutation</ul>									rs17611866	2
Q96N22		<ul><li>H->D at 15: in dbSNP:rs7248674<li>S->L at 226: in dbSNP:rs1818989</ul>									<li>rs7248674</li><li>rs1818989</li>	2
Q96N38	148206	<ul><li>R->K at 332: in dbSNP:rs2884554<li>I->V at 474: in dbSNP:rs10427116</ul>									<li>rs10427116</li><li>rs2884554</li>	2
Q96N66	79143	<ul><li>F->L at 261: in dbSNP:rs17855385<li>V->L at 415: in dbSNP:rs35909464</ul>									<li>rs17855385</li><li>rs35909464</li>	2
Q96N76	131669	<ul><li>R->W at 188: in dbSNP:rs34488036<li>S->T at 311: in dbSNP:rs35062810<li>R->C at 429: in dbSNP:rs9871671</ul>									<li>rs35062810</li><li>rs9871671</li><li>rs34488036</li>	2
Q96N77	121274	<ul><li>S->C at 231: in dbSNP:rs17851618<li>Q->P at 363: in dbSNP:rs2732481</ul>									<li>rs17851618</li><li>rs2732481</li>	2
Q96N87	348932	<ul><li>C->S at 12: in dbSNP:rs7728667<li>I->T at 32: in dbSNP:rs7705355<li>L->P at 478: in dbSNP:rs4073918</ul>									<li>rs7728667</li><li>rs4073918</li><li>rs7705355</li>	2
Q96N96	221178	<ul><li>R->W at 20: in dbSNP:rs7330736</ul>									rs7330736	2
Q96NA2	83547	<ul><li>A->T at 81: in dbSNP:rs9909321<li>R->Q at 281: in dbSNP:rs34982553</ul>									<li>rs34982553</li><li>rs9909321</li>	2
Q96NA8	203062	<ul><li>F->L at 18: in dbSNP:rs7814359<li>R->P at 55: in dbSNP:rs33970858<li>T->A at 118: in dbSNP:rs10100935<li>V->I at 268: in dbSNP:rs10435683</ul>									<li>rs7814359</li><li>rs10100935</li><li>rs33970858</li><li>rs10435683</li>	2
Q96NB3	91603	<ul><li>I->V at 16: in dbSNP:rs8073825<li>S->P at 93: in dbSNP:rs8078059<li>Q->H at 99: in dbSNP:rs931196<li>F->L at 135: in dbSNP:rs8078217<li>S->T at 154: in dbSNP:rs3744355</ul>									<li>rs8078217</li><li>rs931196</li><li>rs8078059</li><li>rs8073825</li><li>rs3744355</li>	2
Q96ND0		<ul><li>R->H at 82: in a breast cancer sample; somatic mutation<li>V->E at 140: in a breast cancer sample; somatic mutation</ul>										2
Q96ND8	147949	<ul><li>F->I at 324: in dbSNP:rs12976917</ul>									rs12976917	2
Q96NF6		<ul><li>R->G at 26: in dbSNP:rs804285<li>I->V at 81: in dbSNP:rs809204<li>R->G at 95: in dbSNP:rs13281294</ul>									<li>rs13281294</li><li>rs809204</li><li>rs804285</li>	2
Q96NG3	83538	<ul><li>P->S at 4: in dbSNP:rs34516580<li>A->G at 18: in dbSNP:rs35516909</ul>									<li>rs34516580</li><li>rs35516909</li>	2
Q96NG8	147948	<ul><li>R->T at 69: in dbSNP:rs11883260</ul>									rs11883260	2
Q96NH3	221322	<ul><li>R->Q at 82: in dbSNP:rs7767455<li>I->V at 280: in dbSNP:rs9490157<li>K->T at 375: in dbSNP:rs9387944<li>I->V at 599: in dbSNP:rs7745023</ul>									<li>rs7745023</li><li>rs7767455</li><li>rs9490157</li><li>rs9387944</li>	2
Q96NJ5	114792	<ul><li>R->C at 5: in dbSNP:rs35143662<li>N->S at 129: in dbSNP:rs2294763<li>D->G at 146: in dbSNP:rs12662753</ul>									<li>rs35143662</li><li>rs12662753</li><li>rs2294763</li>	2
Q96NL0	154661	<ul><li>L->M at 47: in dbSNP:rs17852065<li>E->G at 206: in dbSNP:rs17852063<li>L->P at 440: in dbSNP:rs17856673</ul>									<li>rs17856673</li><li>rs17852063</li><li>rs17852065</li>	2
Q96NL6	132320	<ul><li>C->S at 441: in dbSNP:rs10028124</ul>									rs10028124	2
Q96NL8	157657	<ul><li>P->A at 19: in dbSNP:rs36096184</ul>									rs36096184	2
Q96NM4	84969	<ul><li>V->A at 223: in dbSNP:rs6103584</ul>									rs6103584	2
Q96NR2	253868	<ul><li>V->I at 121: in dbSNP:rs3934574</ul>									rs3934574	2
Q96NR8	145226	<ul><li>T->M at 49: in LCA3; aberrant activity in interconverting isomers of retinol and retinal: in dbSNP rsrs28940314, MIM: 604232<li>I->N at 51: in LCA3, MIM: 604232<li>L->I at 99: in LCA3; dbSNP:rs28940315, MIM: 604232<li>H->D at 151: in LCA3, MIM: 604232<li>H->N at 151: in LCA3, MIM: 604232<li>R->Q at 161: in dbSNP:rs17852293, MIM: 604232<li>S->P at 175: in LCA3, MIM: 604232<li>Y->C at 226: in LCA3; diminished activity in interconverting isomers of retinol and retinal: in dbSNP rsrs28940313, MIM: 604232<li>P->A at 230: in LCA3, MIM: 604232</ul>								Leber congenital amaurosis type 3 (LCA3) [MIM:604232]	<li>rs28940314</li><li>rs28940315</li><li>rs17852293</li><li>rs28940313</li>	2
Q96NT1	266812	<ul><li>E->Q at 154: in dbSNP:rs13109442</ul>									rs13109442	2
Q96NT5	113235	<ul><li>R->S at 113: in HFM; abolishes folate uptake, MIM: 229050<li>G->R at 147: in HFM; reduces folate uptake to 13% of normal levels, MIM: 229050<li>T->A at 295: in dbSNP:rs34552966, MIM: 229050<li>S->R at 318: in HFM; abolishes folate uptake, MIM: 229050<li>R->W at 376: in HFM; abolishes folate uptake, MIM: 229050<li>P->R at 425: in HFM; reduces folate uptake to 3.5% of normal levels, MIM: 229050</ul>								Hereditary folate malabsorption (HFM) [MIM:229050]	rs34552966	2
Q96NU7	144193	<ul><li>G->S at 3: in dbSNP:rs7955450<li>P->H at 360: in dbSNP:rs17024904</ul>									<li>rs17024904</li><li>rs7955450</li>	2
Q96NW4	84079	<ul><li>S->G at 657: in dbSNP:rs2287669<li>P->R at 761: in dbSNP:rs2302970</ul>									<li>rs2302970</li><li>rs2287669</li>	2
Q96NW7	57554	<ul><li>L->M at 235: in a breast cancer sample; somatic mutation<li>H->Y at 1054: in dbSNP:rs12069888</ul>									rs12069888	2
Q96NX5	57172	<ul><li>E->Q at 259: in dbSNP rsrs35561962<li>V->I at 329: in dbSNP:rs11119315<li>A->T at 443: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>									<li>rs35561962</li><li>rs11119315</li>	2
Q96NY7	54102	<ul><li>D->G at 632: in dbSNP:rs3171439</ul>									rs3171439	2
Q96NY8	81607	<ul><li>F->L at 53: in dbSNP:rs3737786</ul>									rs3737786	2
Q96NY9	80198	<ul><li>R->H at 37: in dbSNP:rs13817<li>R->P at 180: in dbSNP:rs545500<li>L->F at 189: in dbSNP:rs2298447<li>R->W at 350: in dbSNP:rs34891773<li>Q->H at 481: in dbSNP:rs765593</ul>									<li>rs2298447</li><li>rs13817</li><li>rs34891773</li><li>rs545500</li><li>rs765593</li>	2
Q96NZ9	118471	<ul><li>E->G at 54: in PRAPV3<li>K->R at 69: in PRAPV4<li>G->S at 81: in dbSNP:rs34780987<li>R->H at 101: in dbSNP:rs4369319</ul>									<li>rs34780987</li><li>rs4369319</li>	2
Q96P09	112401	<ul><li>Y->H at 196: in dbSNP:rs8109165</ul>									rs8109165	2
Q96P11	55695	<ul><li>P->S at 183: in dbSNP:rs34913552</ul>									rs34913552	2
Q96P15		<ul><li>M->T at 148: in allele B<li>I->T at 181: in allele B and allele C</ul>										2
Q96P16	55197	<ul><li>Q->H at 21: in a breast cancer sample; somatic mutation</ul>										2
Q96P20	114548	<ul><li>I->T at 172: in CINCA, MIM: 607115<li>V->M at 198: in FCAS1 and MWS, MIM: 191900<li>R->L at 260: in CINCA, MIM: 607115<li>R->P at 260: in CINCA, MIM: 607115<li>R->W at 260: in FCAS1 and MWS, MIM: 191900<li>L->H at 264: in CINCA, MIM: 607115<li>D->G at 303: in CINCA, MIM: 607115<li>D->N at 303: in CINCA and MWS, MIM: 191900<li>L->P at 305: in FCAS1 and MWS, MIM: 191900<li>Q->L at 306: in CINCA, MIM: 607115<li>F->S at 309: in CINCA, MIM: 607115<li>T->M at 348: in MWS and CINCA, MIM: 191900<li>A->V at 352: in MWS, MIM: 191900<li>L->P at 353: in FCAS1, MIM: 120100<li>E->D at 354: in CINCA, MIM: 607115<li>H->R at 358: in CINCA, MIM: 607115<li>T->P at 405: in CINCA, MIM: 607115<li>T->I at 436: in CINCA, MIM: 607115<li>T->N at 436: in CINCA, MIM: 607115<li>A->T at 439: in MWS, MIM: 191900<li>A->V at 439: in FCAS1, MIM: 120100<li>R->K at 488: in FCAS1, MIM: 120100<li>F->C at 523: in FCAS1, MIM: 120100<li>F->L at 523: in CINCA, MIM: 607115<li>G->R at 569: in MWS, MIM: 191900<li>Y->C at 570: in CINCA, MIM: 607115<li>F->S at 573: in CINCA, MIM: 607115<li>E->G at 627: in FCAS1, MIM: 120100<li>L->F at 632: in CINCA, MIM: 607115<li>M->T at 662: in CINCA, MIM: 607115<li>Q->K at 703: in dbSNP:rs35829419, MIM: 607115<li>Y->C at 859: in CINCA, MIM: 607115</ul>							Q6E1M8	<li>Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]</li><li>Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]</li><li>Muckle-Wells syndrome (MWS) [MIM:191900]</li>	rs35829419	2
Q96P31	115352	<ul><li>N->D at 28: in dbSNP:rs7522061<li>L->F at 307: in dbSNP:rs12041673<li>H->N at 445: in a breast cancer sample; somatic mutation<li>P->L at 660: in dbSNP:rs944627<li>N->S at 721: in dbSNP:rs2282284</ul>									<li>rs944627</li><li>rs12041673</li><li>rs2282284</li><li>rs7522061</li>	2
Q96P44	81578	<ul><li>L->P at 277: in dbSNP:rs2764043<li>T->M at 343: in dbSNP:rs35471617<li>I->T at 495: in dbSNP:rs35583895<li>G->S at 560: in dbSNP:rs9382581<li>A->D at 747: in dbSNP:rs9464337<li>L->P at 821: in dbSNP:rs12209452<li>P->A at 827: in dbSNP:rs1555131</ul>									<li>rs35583895</li><li>rs9382581</li><li>rs1555131</li><li>rs12209452</li><li>rs35471617</li><li>rs2764043</li><li>rs9464337</li>	2
Q96P56	117155	<ul><li>E->G at 8: in dbSNP:rs2614835<li>V->I at 57: in dbSNP:rs8042868</ul>									<li>rs8042868</li><li>rs2614835</li>	2
Q96P63	89777	<ul><li>K->E at 227: in dbSNP:rs35582068<li>N->T at 289: in dbSNP:rs35352345<li>N->S at 338: in dbSNP:rs11664907</ul>									<li>rs11664907</li><li>rs35352345</li><li>rs35582068</li>	2
Q96P64	119016	<ul><li>E->K at 661: in dbSNP:rs15718</ul>									rs15718	2
Q96P65	84109	<ul><li>F->V at 61: in dbSNP:rs17438900<li>H->Q at 149: in dbSNP:rs11947418<li>L->S at 344: in dbSNP:rs2302310</ul>									<li>rs17438900</li><li>rs2302310</li><li>rs11947418</li>	2
Q96P66	83550	<ul><li>V->L at 124: in dbSNP:rs1190736<li>L->P at 376: in dbSNP:rs5931046</ul>									<li>rs1190736</li><li>rs5931046</li>	2
Q96P69	27201	<ul><li>R->S at 201: in dbSNP:rs17844778<li>A->T at 330: in dbSNP:rs11941659<li>R->H at 342: in dbSNP:rs9685931</ul>									<li>rs11941659</li><li>rs9685931</li><li>rs17844778</li>	2
Q96P71	63941	<ul><li>P->L at 254: in dbSNP:rs17124890</ul>									rs17124890	2
Q96PB1	64921	<ul><li>R->S at 386: in dbSNP:rs17855797</ul>									rs17855797	2
Q96PC2	117283	<ul><li>R->W at 60: in dbSNP:rs34431226<li>A->V at 308: in dbSNP:rs34573836<li>V->I at 312: in dbSNP:rs4713668<li>Y->S at 378: in dbSNP:rs34343647</ul>									<li>rs34431226</li><li>rs34343647</li><li>rs34573836</li><li>rs4713668</li>	2
Q96PC5	117153	<ul><li>D->H at 436: in a breast cancer sample; somatic mutation</ul>										2
Q96PD2	131566	<ul><li>I->M at 144: in dbSNP:rs9838238<li>D->N at 723: in dbSNP:rs16840208</ul>									<li>rs16840208</li><li>rs9838238</li>	2
Q96PD5	114770	<ul><li>T->A at 46: in dbSNP:rs3813135<li>R->Q at 99: in dbSNP:rs733731<li>T->N at 257: in dbSNP:rs28404490<li>M->K at 270: in dbSNP:rs892145<li>R->Q at 394: in dbSNP:rs34440547<li>R->W at 476: in dbSNP:rs2304200</ul>									<li>rs2304200</li><li>rs3813135</li><li>rs892145</li><li>rs28404490</li><li>rs34440547</li><li>rs733731</li>	2
Q96PD6	116255	<ul><li>S->P at 162: in dbSNP:rs1868024</ul>									rs1868024	2
Q96PD7	84649	<ul><li>R->G at 317: in dbSNP:rs34421064<li>M->I at 361: in dbSNP:rs34113941</ul>									<li>rs34421064</li><li>rs34113941</li>	2
Q96PE2	9828	<ul><li>G->E at 450: in dbSNP:rs3741150<li>A->D at 1465: in dbSNP:rs2298808</ul>									<li>rs3741150</li><li>rs2298808</li>	2
Q96PE6	114026	<ul><li>R->K at 7: in dbSNP:rs10407445<li>E->K at 28: in dbSNP:rs2370134<li>L->M at 69: in dbSNP:rs4801200<li>N->D at 157: in dbSNP:rs7252632<li>G->R at 205: in dbSNP:rs35202951<li>I->V at 379: in dbSNP:rs4801433</ul>									<li>rs35202951</li><li>rs2370134</li><li>rs7252632</li><li>rs4801433</li><li>rs4801200</li><li>rs10407445</li>	2
Q96PE7	84693	<ul><li>A->V at 76: in dbSNP:rs11541017<li>R->L at 104: in dbSNP:rs6748672</ul>									<li>rs6748672</li><li>rs11541017</li>	2
Q96PF2	23617	<ul><li>K->R at 27: in dbSNP:rs3747052<li>M->V at 61: in dbSNP rsrs35532431<li>Y->C at 197: in dbSNP rsrs56279111<li>E->K at 244: in dbSNP:rs35048893<li>T->M at 280: in dbSNP:rs1052763</ul>									<li>rs56279111</li><li>rs35048893</li><li>rs1052763</li><li>rs3747052</li><li>rs35532431</li>	2
Q96PI1	163778	<ul><li>P->S at 45: in dbSNP:rs16834786</ul>									rs16834786	2
Q96PJ5	83417	<ul><li>R->Q at 60: in dbSNP:rs11582663<li>N->S at 255: in dbSNP:rs4561035<li>K->R at 457: in dbSNP:rs2039401<li>Y->C at 493: in dbSNP:rs3811028</ul>									<li>rs2039401</li><li>rs4561035</li><li>rs11582663</li><li>rs3811028</li>	2
Q96PL1	117156	<ul><li>K->N at 33: in a breast cancer sample; somatic mutation</ul>										2
Q96PL5	114625	<ul><li>A->V at 4: in dbSNP:rs35757049<li>H->Y at 26: in dbSNP:rs33953680<li>G->S at 35: in Sc7 antigen<li>E->K at 47: in Sc5 antigen: in dbSNP rsrs56047316<li>G->R at 57: in Sc2 antigen: in dbSNP rsrs56025238<li>P->A at 60: in Sc4 antigen: in dbSNP rsrs56136737<li>R->Q at 81: in Sc6 antigen<li>DAQEGSVTLQI->CP at 103-113: in Sc-3 allele: in dbSNP rsrs55695242,rs56151267<li>Missing  at 114-475: in Sc-3 allele<li>C->R at 259: in dbSNP:rs35147822<li>G->E at 263: in dbSNP rsrs34441268</ul>									<li>rs56136737</li><li>rs56047316</li><li>rs56151267</li><li>rs34441268</li><li>rs56025238</li><li>rs35757049</li><li>rs35147822</li><li>rs55695242</li><li>rs33953680</li>	2
Q96PN6	55811	<ul><li>T->M at 234: in dbSNP:rs16859886<li>V->I at 697: in dbSNP:rs2071921</ul>									<li>rs16859886</li><li>rs2071921</li>	2
Q96PN7	55809	<ul><li>T->A at 431: in dbSNP:rs35162277<li>C->S at 834: in dbSNP:rs2295275<li>N->T at 1019: in dbSNP:rs35978318<li>D->N at 1187: in dbSNP:rs11751765</ul>									<li>rs11751765</li><li>rs2295275</li><li>rs35162277</li><li>rs35978318</li>	2
Q96PN8	81629	<ul><li>I->V at 71: in dbSNP:rs35508255<li>A->T at 140: in dbSNP rsrs55786268<li>S->L at 235: in dbSNP rsrs35457991</ul>									<li>rs35457991</li><li>rs55786268</li><li>rs35508255</li>	2
Q96PP8	115362	<ul><li>E->Q at 4: in dbSNP:rs17130763<li>T->M at 35: in dbSNP:rs3806339</ul>									<li>rs3806339</li><li>rs17130763</li>	2
Q96PP9	115361	<ul><li>K->E at 125: in dbSNP:rs17130745<li>I->V at 379: in dbSNP:rs1831240<li>Y->N at 541: in dbSNP:rs655260<li>M->I at 542: in dbSNP:rs1142886<li>M->I at 545: in dbSNP:rs1142889<li>M->L at 545: in dbSNP:rs1142888<li>E->K at 546: in dbSNP:rs1142890<li>L->M at 549: in dbSNP:rs608339<li>E->G at 551: in dbSNP:rs561042<li>E->K at 551: in dbSNP:rs561037</ul>									<li>rs608339</li><li>rs1142890</li><li>rs1142888</li><li>rs1142889</li><li>rs561042</li><li>rs17130745</li><li>rs1142886</li><li>rs561037</li><li>rs655260</li><li>rs1831240</li>	2
Q96PQ1	89858	<ul><li>P->H at 81: in dbSNP:rs2034891<li>P->T at 81: in dbSNP:rs2034891<li>A->V at 82: in dbSNP:rs3810110<li>H->Q at 217: in dbSNP:rs6509544<li>G->R at 218: in dbSNP:rs6509544<li>H->Y at 398: in dbSNP:rs11668530<li>T->M at 478: in dbSNP:rs3829658<li>Y->S at 494: in dbSNP:rs3752135<li>Y->C at 586: in dbSNP:rs7245807</ul>									<li>rs2034891</li><li>rs3752135</li><li>rs3829658</li><li>rs6509544</li><li>rs3810110</li><li>rs11668530</li><li>rs7245807</li>	2
Q96PQ6		<ul><li>Q->H at 19: in dbSNP:rs3752199</ul>									rs3752199	2
Q96PQ7	51088	<ul><li>I->L at 10: in dbSNP:rs2711941<li>G->S at 508: in dbSNP:rs34646863</ul>									<li>rs2711941</li><li>rs34646863</li>	2
Q96PS8	89872	<ul><li>R->Q at 15: in dbSNP:rs6668968<li>H->Y at 123: in dbSNP:rs6685323</ul>									<li>rs6668968</li><li>rs6685323</li>	2
Q96PU4	115426	<ul><li>I->N at 87: in a colorectal cancer sample; somatic mutation</ul>										2
Q96PU5	23327	<ul><li>P->L at 355: common polymorphism; impaired ability to inhibit SCNN<li>S->R at 497</ul>										2
Q96PU8	9444	<ul><li>R->Q at 336: in a colorectal cancer sample; somatic mutation</ul>										2
Q96PV4	114824	<ul><li>N->H at 107: in dbSNP:rs3810655<li>R->W at 349: in dbSNP:rs3810654</ul>									<li>rs3810655</li><li>rs3810654</li>	2
Q96PV6	114823	<ul><li>R->P at 242: in dbSNP:rs35061854<li>I->V at 520: in dbSNP:rs35336528</ul>									<li>rs35061854</li><li>rs35336528</li>	2
Q96PV7	54540	<ul><li>P->S at 816: in dbSNP:rs337382</ul>									rs337382	2
Q96PW8		<ul><li>V->I at 431: in dbSNP:rs468120</ul>									rs468120	2
Q96PX1	114804	<ul><li>P->H at 80: in dbSNP:rs2289602<li>G->R at 208: in dbSNP:rs11539879</ul>									<li>rs11539879</li><li>rs2289602</li>	2
Q96PX8	114798	<ul><li>L->M at 552: in dbSNP:rs7491932</ul>									rs7491932	2
Q96PY0		<ul><li>T->TRWGRHHCPFSK at 264: in dbSNP:rs7800178</ul>									rs7800178	2
Q96PY5	114793	<ul><li>Y->C at 352: in dbSNP:rs34119671<li>M->T at 504: in dbSNP:rs11897929</ul>									<li>rs11897929</li><li>rs34119671</li>	2
Q96PY6	4750	<ul><li>I->F at 10: in dbSNP rsrs34214559<li>E->K at 25: in a lung large cell carcinoma sample; somatic mutation<li>L->V at 76: in dbSNP rsrs35093214<li>A->P at 294: in a lung adenocarcinoma sample; somatic mutation<li>R->G at 355: in dbSNP:rs35763578<li>A->V at 463: in dbSNP:rs34540355<li>A->T at 598: in dbSNP:rs33933790<li>E->G at 724: in dbSNP rsrs34099167<li>E->G at 724: in dbSNP:rs34099167<li>K->N at 745<li>Q->E at 883: in dbSNP:rs6828134<li>D->N at 1180: in dbSNP rsrs35503975</ul>									<li>rs6828134</li><li>rs33933790</li><li>rs34214559</li><li>rs35763578</li><li>rs35093214</li><li>rs34099167</li><li>rs35503975</li><li>rs34540355</li>	2
Q96Q04		<ul><li>L->V at 929: in dbSNP:rs1643478</ul>									rs1643478	2
Q96Q06	729359	<ul><li>S->G at 659: in dbSNP:rs7260518<li>A->T at 1124: in dbSNP:rs7251858<li>R->C at 1134: in dbSNP:rs7250947</ul>									<li>rs7260518</li><li>rs7251858</li><li>rs7250947</li>	2
Q96Q11	51095	<ul><li>L->P at 23: in dbSNP:rs334773</ul>									rs334773	2
Q96Q15	23049	<ul><li>A->T at 31<li>R->C at 122<li>S->C at 140<li>N->Y at 147<li>D->N at 156<li>A->V at 163<li>D->G at 316<li>G->S at 461<li>H->R at 542<li>A->S at 584<li>K->I at 608<li>S->C at 749<li>S->C at 805<li>R->C at 808<li>V->I at 825<li>N->D at 828<li>A->G at 948<li>N->S at 965<li>F->L at 1012<li>R->Q at 1025<li>T->S at 1068<li>N->H at 1099<li>P->R at 1271<li>Q->P at 1288<li>I->V at 1328<li>S->P at 1354<li>R->T at 1414<li>S->C at 2167: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>G->S at 2254<li>M->K at 2341<li>Q->E at 2726<li>G->S at 2885<li>P->A at 2895<li>I->T at 3235: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>K->Q at 3579: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>										2
Q96Q27	51676	<ul><li>P->S at 160: in dbSNP:rs2295213</ul>									rs2295213	2
Q96Q35	130540	<ul><li>V->L at 43: in dbSNP:rs13014235</ul>									rs13014235	2
Q96Q40	65061	<ul><li>R->G at 13: in dbSNP rsrs34776344<li>K->E at 42: in a renal clear cell carcinoma sample; somatic mutation<li>Q->R at 76: in dbSNP rsrs56135556<li>T->I at 204: in dbSNP rsrs34851370<li>E->D at 225: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>									<li>rs34851370</li><li>rs34776344</li><li>rs56135556</li>	2
Q96Q42	57679	<ul><li>I->V at 94: in dbSNP:rs3219154<li>H->R at 102<li>E->K at 159: in dbSNP:rs3219155<li>M->V at 368: in dbSNP:rs3219156<li>S->F at 1255: in dbSNP:rs10206276<li>R->K at 1406</ul>									<li>rs3219154</li><li>rs3219155</li><li>rs3219156</li><li>rs10206276</li>	2
Q96Q80	91319	<ul><li>F->L at 149: in dbSNP:rs3177243<li>A->V at 211: in dbSNP:rs1128127</ul>									<li>rs3177243</li><li>rs1128127</li>	2
Q96Q83	221120	<ul><li>R->C at 164: in dbSNP:rs2271815<li>D->E at 228: in dbSNP:rs2434470</ul>									<li>rs2271815</li><li>rs2434470</li>	2
Q96Q89	9585	<ul><li>A->G at 50: in dbSNP:rs1129777<li>E->D at 490: in dbSNP:rs17484219<li>N->I at 756: in dbSNP:rs12572012<li>H->L at 789: in dbSNP:rs3758388<li>D->E at 1011: in dbSNP:rs1062465<li>E->Q at 1127: in dbSNP:rs11185863<li>R->C at 1177: in dbSNP:rs1886996<li>N->S at 1219: in dbSNP:rs1886997<li>I->V at 1789: in dbSNP:rs3758390</ul>									<li>rs1062465</li><li>rs1886997</li><li>rs1886996</li><li>rs3758388</li><li>rs17484219</li><li>rs3758390</li><li>rs12572012</li><li>rs11185863</li><li>rs1129777</li>	2
Q96QA5	284110	<ul><li>R->Q at 18: in dbSNP:rs3894194<li>L->V at 128: in dbSNP:rs7212938<li>E->K at 130: in dbSNP:rs7212944</ul>									<li>rs7212944</li><li>rs3894194</li><li>rs7212938</li>	2
Q96QB1	10395	<ul><li>N->S at 275: in dbSNP:rs1044092<li>V->M at 354: in dbSNP:rs532841<li>T->A at 522<li>H->Q at 561<li>V->A at 588<li>E->V at 762: in dbSNP:rs1044093<li>S->C at 772: in dbSNP:rs1044094</ul>									<li>rs532841</li><li>rs1044094</li><li>rs1044093</li><li>rs1044092</li>	2
Q96QC0	5514	<ul><li>R->P at 173: in dbSNP:rs16897725</ul>									rs16897725	2
Q96QD5	91614	<ul><li>A->T at 192: in dbSNP:rs34161108</ul>									rs34161108	2
Q96QD8	54407	<ul><li>N->K at 48: in dbSNP:rs11183450</ul>									rs11183450	2
Q96QE3	79915	<ul><li>T->S at 35: in dbSNP:rs9910051<li>P->S at 87: in dbSNP:rs3816780<li>E->G at 135: in dbSNP:rs11080134<li>R->K at 249: in dbSNP:rs17826219<li>N->H at 699: in dbSNP:rs3764421<li>Y->H at 1419: in dbSNP:rs11657270</ul>									<li>rs3764421</li><li>rs3816780</li><li>rs17826219</li><li>rs11657270</li><li>rs11080134</li><li>rs9910051</li>	2
Q96QE5	79736	<ul><li>I->V at 348: in dbSNP:rs2433</ul>									rs2433	2
Q96QF7	93953	<ul><li>R->H at 471: in dbSNP:rs10217999<li>T->I at 662: in dbSNP:rs2280962</ul>									<li>rs10217999</li><li>rs2280962</li>	2
Q96QH2	84106	<ul><li>Q->K at 57: in dbSNP:rs4804305<li>Q->P at 73: in dbSNP:rs4239541<li>F->V at 76: in dbSNP:rs4239540</ul>									<li>rs4239540</li><li>rs4239541</li><li>rs4804305</li>	2
Q96QK1	55737	<ul><li>V->D at 602: in dbSNP:rs34687100</ul>									rs34687100	2
Q96QP1	80216	<ul><li>Q->R at 67: in dbSNP rsrs33943680<li>N->D at 175: in dbSNP:rs6533616<li>T->M at 292: in dbSNP rsrs34120296<li>L->M at 320<li>K->E at 339: in an ovarian mucinous carcinoma sample; somatic mutation<li>K->E at 383<li>D->G at 565: in dbSNP:rs2074388<li>H->R at 642: in dbSNP:rs13148353<li>P->L at 660: in dbSNP rsrs35389530<li>G->D at 681: in dbSNP rsrs35519493<li>I->M at 732: in dbSNP:rs2074379<li>T->M at 861: in dbSNP:rs11726117<li>G->S at 870: in dbSNP:rs2074380<li>R->I at 873: in dbSNP rsrs34946272<li>E->D at 910: in dbSNP rsrs35308602<li>N->D at 916: in dbSNP:rs2074381<li>P->L at 935: in dbSNP rsrs34780600<li>R->Q at 1084: in dbSNP rsrs34677416<li>L->P at 1117: in dbSNP rsrs35756863<li>A->G at 1160: in dbSNP rsrs55696324</ul>									<li>rs35389530</li><li>rs2074380</li><li>rs33943680</li><li>rs11726117</li><li>rs13148353</li><li>rs55696324</li><li>rs35756863</li><li>rs34780600</li><li>rs34677416</li><li>rs6533616</li><li>rs35519493</li><li>rs2074379</li><li>rs2074388</li><li>rs34946272</li><li>rs34120296</li><li>rs2074381</li><li>rs35308602</li>	2
Q96QS3	170302	<ul><li>L->P at 33: in MRX54: in dbSNP rsrs28936077<li>A->AAAAAAAA at 115: in EIEE1<li>A->AAAAAAAAA at 155: in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation<li>G->S at 286: in MRX54; dbSNP:rs28935479<li>R->H at 332: in LISX2: in dbSNP rsrs28936075, MIM: 300215<li>R->P at 332: in LISX2, MIM: 300215<li>T->N at 333: in ACC with abnormal genitalia: in dbSNP rsrs28936078, MIM: 300004<li>L->Q at 343: in LISX2: in dbSNP rsrs28936076, MIM: 300215<li>P->L at 353: in EIEE1: in dbSNP rsrs28936074, MIM: 308350<li>P->R at 353: in LISX2, MIM: 300215<li>A->T at 521: in LISX2; severe phenotype, MIM: 300215</ul>							<li>O52058</li><li>Q00955</li><li>P37798</li><li>Q8X9B6</li><li>P78820</li><li>Q9KDS9</li><li>P24182</li><li>P49787</li><li>P32874</li><li>P43873</li><li>P11029</li><li>Q06862</li><li>P84546</li>	<li>Lissencephaly X-linked type 2 (LISX2) [MIM:300215]</li><li>Agenesis of corpus callosum with abnormal genitalia (ACC with abnormal genitalia) [MIM:300004]</li><li>Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]</li>	<li>rs28935479</li><li>rs28936075</li><li>rs28936074</li><li>rs28936077</li><li>rs28936076</li><li>rs28936078</li>	2
Q96QS6	85481	<ul><li>G->D at 72: in dbSNP rsrs56407605<li>R->K at 79: in dbSNP:rs35315725<li>R->Q at 114: in dbSNP rsrs35915498<li>S->I at 116: in a lung adenocarcinoma sample; somatic mutation<li>Q->R at 132: in dbSNP:rs16879427<li>R->Q at 148: in dbSNP rsrs56356246<li>A->S at 176: in dbSNP:rs6998760<li>G->R at 211: in dbSNP rsrs36074412<li>K->I at 212: in a lung adenocarcinoma sample; somatic mutation<li>T->A at 225: in dbSNP rsrs34457516<li>S->R at 266: in dbSNP rsrs34037815<li>I->V at 336: in dbSNP:rs16876805</ul>									<li>rs35315725</li><li>rs16876805</li><li>rs34457516</li><li>rs36074412</li><li>rs56356246</li><li>rs56407605</li><li>rs16879427</li><li>rs34037815</li><li>rs35915498</li><li>rs6998760</li>	2
Q96QT4	54822	<ul><li>G->V at 68: in dbSNP rsrs56064201<li>S->C at 406: in an ovarian serous carcinoma sample; somatic mutation<li>I->T at 459: in dbSNP rsrs55924090<li>K->N at 574: in dbSNP rsrs56040619<li>T->S at 720: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>M->V at 830: in a gastric adenocarcinoma sample; somatic mutation<li>F->Y at 949: in dbSNP rsrs55681028<li>A->G at 1033: in dbSNP:rs34530969<li>Q->R at 1064: in dbSNP rsrs56298128<li>I->V at 1145: in dbSNP:rs34711809<li>I->T at 1211: in dbSNP rsrs56090496<li>A->V at 1254: in dbSNP rsrs56288221<li>D->E at 1306: in dbSNP rsrs55970334<li>R->K at 1444: in dbSNP rsrs55840070<li>T->I at 1482: mutant channels are functional but show increased susceptibility to inhibition by intracellular magnesium concentrations compared to wild-type channels; dbSNP:rs8042919</ul>					intracellular	GO:0005622			<li>rs55970334</li><li>rs55681028</li><li>rs55840070</li><li>rs55924090</li><li>rs56288221</li><li>rs34530969</li><li>rs56090496</li><li>rs56040619</li><li>rs56064201</li><li>rs8042919</li><li>rs34711809</li><li>rs56298128</li>	2
Q96QU1	65217	<ul><li>S->A at 19: in dbSNP:rs11004439<li>R->G at 134: in DFNB23, MIM: 609533<li>G->D at 262: in DFNB23, MIM: 609533<li>G->S at 380: in dbSNP:rs10825269, MIM: 609533<li>D->A at 435: in dbSNP:rs4935502, MIM: 609533<li>R->Q at 929: in dbSNP:rs2135720, MIM: 609533<li>Q->K at 1342: in USH1F, MIM: 602083<li>Missing  at 1867: in USH1F, MIM: 602083</ul>								<li>Non-syndromic sensorineural deafness autosomal recessive type 23 (DFNB23) [MIM:609533]</li><li>Usher syndrome type 1F (USH1F) [MIM:602083]</li>	<li>rs2135720</li><li>rs10825269</li><li>rs11004439</li><li>rs4935502</li>	2
Q96QU6	84680	<ul><li>D->N at 59: in dbSNP:rs33952257<li>D->E at 134: in dbSNP:rs2018795<li>G->E at 221: in a breast cancer sample; somatic mutation; dbSNP:rs35514614<li>S->L at 393: in a breast cancer sample; somatic mutation<li>P->L at 421: in dbSNP:rs3107275</ul>									<li>rs33952257</li><li>rs2018795</li><li>rs3107275</li><li>rs35514614</li>	2
Q96QU8	23214	<ul><li>V->L at 1029: in dbSNP:rs14672</ul>									rs14672	2
Q96QV1	64399	<ul><li>V->I at 341</ul>										2
Q96QZ0	116337	<ul><li>G->R at 95: in dbSNP:rs34498516<li>T->A at 208: in dbSNP:rs35569094</ul>									<li>rs35569094</li><li>rs34498516</li>	2
Q96R08	390191	<ul><li>C->R at 141: in dbSNP:rs4938895<li>C->Y at 141: in dbSNP:rs11229457</ul>									<li>rs11229457</li><li>rs4938895</li>	2
Q96R09	390190	<ul><li>M->T at 200: in dbSNP:rs4298923<li>V->A at 208: in dbSNP:rs10466659</ul>									<li>rs10466659</li><li>rs4298923</li>	2
Q96R28	391194	<ul><li>A->T at 237: in dbSNP:rs9435890</ul>									rs9435890	2
Q96R30	285659	<ul><li>A->V at 34: in dbSNP:rs17617270<li>H->R at 221: in dbSNP:rs2546423</ul>									<li>rs2546423</li><li>rs17617270</li>	2
Q96R48	393046	<ul><li>I->V at 126: in dbSNP:rs2961144<li>A->S at 202: in dbSNP:rs6464573</ul>									<li>rs2961144</li><li>rs6464573</li>	2
Q96R67	283093	<ul><li>V->L at 283: in dbSNP:rs4598671</ul>									rs4598671	2
Q96RA2	162998	<ul><li>T->M at 197: in dbSNP:rs13345452</ul>									rs13345452	2
Q96RB7	219487	<ul><li>S->N at 171: in dbSNP:rs628524<li>V->L at 280: in dbSNP:rs17547207</ul>									<li>rs628524</li><li>rs17547207</li>	2
Q96RC9	283162	<ul><li>E->G at 22: in dbSNP:rs10750270<li>Y->H at 131: in dbSNP:rs4057750<li>C->F at 140: in dbSNP:rs7116575<li>C->R at 178: in dbSNP:rs4057749</ul>									<li>rs10750270</li><li>rs4057750</li><li>rs7116575</li><li>rs4057749</li>	2
Q96RD1	390321	<ul><li>C->Y at 130: in dbSNP:rs7132431<li>H->D at 165: in dbSNP:rs7132347<li>T->I at 222: in dbSNP:rs7132600<li>V->I at 246: in dbSNP:rs7132916</ul>									<li>rs7132916</li><li>rs7132347</li><li>rs7132431</li><li>rs7132600</li>	2
Q96RD2	255725	<ul><li>F->Y at 105: in dbSNP:rs16909422</ul>									rs16909422	2
Q96RD3	390078	<ul><li>I->V at 39: in dbSNP:rs4362173<li>F->L at 48: in dbSNP:rs10769272<li>C->F at 64: in dbSNP:rs4495918<li>S->P at 95: in dbSNP:rs4592451<li>W->R at 133: in dbSNP:rs10838719<li>I->V at 159: in dbSNP:rs4357719<li>F->Y at 170: in dbSNP:rs7943698<li>M->R at 199: in dbSNP:rs10742809</ul>									<li>rs4357719</li><li>rs10838719</li><li>rs4495918</li><li>rs4362173</li><li>rs10742809</li><li>rs7943698</li><li>rs4592451</li><li>rs10769272</li>	2
Q96RD6		<ul><li>S->F at 137: in a breast cancer sample; somatic mutation</ul>										2
Q96RD7	24145	<ul><li>H->Q at 5: in dbSNP:rs1138800<li>I->V at 272: in dbSNP:rs12793348</ul>									<li>rs1138800</li><li>rs12793348</li>	2
Q96RD9	83416	<ul><li>H->Y at 267: in dbSNP:rs6679793<li>V->I at 269: in dbSNP:rs12036228<li>D->G at 418: in dbSNP:rs2012199<li>I->V at 466: in dbSNP:rs6427384<li>S->C at 687: in a breast cancer sample; somatic mutation</ul>									<li>rs6679793</li><li>rs2012199</li><li>rs6427384</li><li>rs12036228</li>	2
Q96RE9	91975	<ul><li>Q->H at 336: in dbSNP:rs1988688</ul>									rs1988688	2
Q96RF0	112574	<ul><li>E->D at 571: in dbSNP:rs2548612<li>K->T at 593: in dbSNP:rs13162502</ul>									<li>rs13162502</li><li>rs2548612</li>	2
Q96RG2	23178	<ul><li>E->K at 11: in a metastatic melanoma sample; somatic mutation<li>V->I at 250: in dbSNP:rs1470414<li>Q->R at 426: in dbSNP:rs35187712<li>T->A at 512: in dbSNP rsrs56033464<li>L->S at 514: in dbSNP:rs2240543<li>P->R at 684: in dbSNP rsrs56372985<li>V->M at 694: in dbSNP:rs6727226<li>G->D at 725: in dbSNP:rs2005771<li>E->K at 796: in dbSNP:rs35129131<li>P->Q at 844: in dbSNP:rs36082918<li>R->H at 937: in dbSNP rsrs56139954<li>V->M at 1210: in dbSNP:rs10167000<li>F->C at 1266: in dbSNP:rs1131293<li>P->S at 1301</ul>									<li>rs56139954</li><li>rs2240543</li><li>rs36082918</li><li>rs1131293</li><li>rs56033464</li><li>rs1470414</li><li>rs56372985</li><li>rs35129131</li><li>rs2005771</li><li>rs10167000</li><li>rs6727226</li><li>rs35187712</li>	2
Q96RI0	9002	<ul><li>A->T at 120: in dbSNP:rs773902<li>R->Q at 215: in dbSNP:rs2230799<li>F->V at 296: in dbSNP:rs2227346<li>P->L at 310: in dbSNP:rs2227376</ul>									<li>rs2227346</li><li>rs773902</li><li>rs2230799</li><li>rs2227376</li>	2
Q96RI8	319100	<ul><li>I->T at 37: in dbSNP:rs17061399<li>G->S at 165: in dbSNP:rs17061401<li>Y->C at 173: in dbSNP:rs17061404<li>A->V at 228: in dbSNP:rs17061409<li>V->I at 265: in dbSNP:rs8192624<li>C->Y at 291: in dbSNP:rs8192625<li>V->I at 326: in dbSNP:rs17061419</ul>									<li>rs17061404</li><li>rs17061401</li><li>rs17061399</li><li>rs17061419</li><li>rs8192624</li><li>rs8192625</li><li>rs17061409</li>	2
Q96RI9	134860	<ul><li>A->T at 278: in dbSNP:rs9389004</ul>									rs9389004	2
Q96RJ0	134864	<ul><li>R->C at 23: in dbSNP:rs8192618<li>T->A at 252: in dbSNP:rs6926857</ul>									<li>rs6926857</li><li>rs8192618</li>	2
Q96RJ6	222894	<ul><li>G->R at 36: in a colorectal cancer sample; somatic mutation</ul>										2
Q96RK0	23152	<ul><li>E->K at 104: in a breast cancer sample; somatic mutation<li>A->T at 652: in a breast cancer sample; somatic mutation<li>S->G at 982: in dbSNP:rs17339472</ul>									rs17339472	2
Q96RK4	585	<ul><li>K->R at 46<li>N->H at 165: in BBS4, MIM: 209900<li>E->K at 268: in dbSNP:rs11638283, MIM: 209900<li>R->P at 295: in BBS4, MIM: 209900<li>L->P at 327: in BBS4, MIM: 209900<li>L->R at 351: in BBS4, MIM: 209900<li>I->T at 354: in dbSNP:rs2277598, MIM: 209900<li>A->E at 364: in BBS4, MIM: 209900<li>D->G at 368: in BBS4, MIM: 209900<li>A->V at 393: in dbSNP:rs17852452, MIM: 209900<li>S->I at 457: in BBS4, MIM: 209900<li>M->V at 472: in BBS4; dbSNP:rs2277596, MIM: 209900<li>P->L at 503: in BBS4, MIM: 209900</ul>							Q96RK4	Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	<li>rs11638283</li><li>rs2277596</li><li>rs17852452</li><li>rs2277598</li>	2
Q96RL1	51720	<ul><li>R->W at 15: in dbSNP:rs13167812<li>P->L at 435: in dbSNP:rs3733876<li>C->R at 511: in dbSNP:rs13360277<li>G->E at 596: in dbSNP:rs10475633</ul>									<li>rs13167812</li><li>rs3733876</li><li>rs10475633</li><li>rs13360277</li>	2
Q96RL7	23230	<ul><li>I->K at 90: in CHAC: in dbSNP rsrs28939379, MIM: 200150<li>R->H at 161: in a colorectal cancer sample; somatic mutation, MIM: 200150<li>S->P at 1452: in CHAC, MIM: 200150<li>Y->C at 2721: in CHAC, MIM: 200150</ul>							<li>Q9BGZ0</li><li>Q96RL7</li>	Chorea-acanthocytosis (CHAC) [MIM:200150]	rs28939379	2
Q96RN1	116369	<ul><li>V->M at 73: not a cause of male infertility; dbSNP:rs743923<li>I->V at 148: not a cause of male infertility; dbSNP:rs17713154<li>S->N at 230: not a cause of male infertility; dbSNP:rs17707331<li>I->V at 639: not a cause of male infertility; dbSNP:rs2295852</ul>									<li>rs17713154</li><li>rs743923</li><li>rs17707331</li><li>rs2295852</li>	2
Q96RN5	51586	<ul><li>Missing at 261-262</ul>										2
Q96RP7	79690	<ul><li>R->Q at 353: in dbSNP:rs3800952<li>A->V at 467: in dbSNP:rs3823646</ul>									<li>rs3823646</li><li>rs3800952</li>	2
Q96RP8	3743	<ul><li>P->R at 189: in dbSNP:rs1611775<li>M->T at 418: in dbSNP:rs1017219</ul>									<li>rs1611775</li><li>rs1017219</li>	2
Q96RP9	85476	<ul><li>N->S at 174: in COXPD1: in dbSNP rsrs28939098, MIM: 609060<li>V->I at 215: in dbSNP:rs2303909, MIM: 609060<li>M->R at 496: in COXPD1, MIM: 609060</ul>								Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	<li>rs2303909</li><li>rs28939098</li>	2
Q96RQ3	56922	<ul><li>A->V at 289: in MCC1 deficiency; mild form, MIM: 210200<li>M->R at 325: in MCC1 deficiency, MIM: 210200<li>R->S at 385: in MCC1 deficiency; severe form; dbSNP:rs28934881, MIM: 210200<li>L->P at 437: in MCC1 deficiency; severe form; dbSNP:rs28934882, MIM: 210200<li>H->P at 464: in dbSNP:rs2270968, MIM: 210200<li>D->H at 532: in MCC1 deficiency; severe form, MIM: 210200<li>S->F at 535: in MCC1 deficiency; asymptomatic form, MIM: 210200<li>N->T at 560: in dbSNP:rs35219417, MIM: 210200</ul>								Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	<li>rs2270968</li><li>rs35219417</li><li>rs28934881</li><li>rs28934882</li>	2
Q96RQ9	259307	<ul><li>A->S at 501: in dbSNP:rs2290772</ul>									rs2290772	2
Q96RR1	56652	<ul><li>R->W at 303: in PEO; sporadic case<li>W->L at 315: in PEOA3, MIM: 609286<li>K->E at 319: in SANDO; not identified in blood samples of either parents indicating probable germline mosaicism, MIM: 607459<li>K->T at 319: in PEOA3, MIM: 609286<li>R->Q at 334: in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance: in dbSNP rsrs28937887, MIM: 609286<li>P->L at 335: in PEOA3, MIM: 609286<li>R->P at 354: in PEOA3, MIM: 609286<li>A->T at 359: in PEOA3, MIM: 609286<li>I->T at 367: in PEOA3, MIM: 609286<li>V->I at 368: in PEOA3; could be a polymorphism; dbSNP:rs17113613, MIM: 609286<li>S->P at 369: in PEOA3, MIM: 609286<li>S->Y at 369: in PEOA3, MIM: 609286<li>R->Q at 374: in PEOA3, MIM: 609286<li>L->P at 381: in PEOA3, MIM: 609286<li>E->G at 427: in dbSNP:rs11542126, MIM: 609286<li>T->I at 457: in ARHCMDS; affects helicase activity, MIM: 251880<li>W->C at 474: in PEOA3, MIM: 609286<li>A->P at 475: in PEOA3, MIM: 609286<li>Y->C at 508: in IOSCA, MIM: 271245</ul>							<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>P54098</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q9WJB2</li><li>Q3I5J6</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P22168</li><li>P19751</li><li>Q8V6W7</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>Q92076</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>Q8V439</li><li>P17965</li><li>Q91QT2</li><li>Q04561</li><li>Q97ZZ8</li><li>P27411</li><li>P27410</li><li>P27920</li><li>P22591</li><li>Q9PYA3</li><li>P20951</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>	<li>Spinocerebellar ataxia infantile-onset (IOSCA) [MIM:271245]</li><li>Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive (ARHCMDS) [MIM:251880]</li><li>Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]</li><li>Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]</li>	<li>rs28937887</li><li>rs17113613</li><li>rs11542126</li>	2
Q96RR4	10645	<ul><li>S->N at 10: in dbSNP:rs28360477<li>S->T at 85: in dbSNP:rs3817190<li>C->Y at 123: in dbSNP rsrs35403710<li>P->L at 127: in a lung neuroendocrine carcinoma sample; somatic mutation<li>A->T at 182: in a colorectal adenocarcinoma sample; somatic mutation<li>R->C at 363: in dbSNP:rs1132780<li>R->H at 492: in dbSNP rsrs34129994</ul>									<li>rs35403710</li><li>rs1132780</li><li>rs3817190</li><li>rs34129994</li><li>rs28360477</li>	2
Q96RS0	96764	<ul><li>T->I at 16: in dbSNP:rs1818<li>I->V at 160: in dbSNP:rs3213971<li>I->T at 511: in dbSNP:rs10100659<li>V->I at 576: in dbSNP:rs16922259<li>F->C at 754: in dbSNP:rs7823773</ul>									<li>rs1818</li><li>rs16922259</li><li>rs10100659</li><li>rs3213971</li><li>rs7823773</li>	2
Q96RS6	84955	<ul><li>F->L at 252: in dbSNP:rs2980619<li>V->I at 269: in dbSNP:rs2980618<li>N->H at 394: in dbSNP:rs34660136<li>N->S at 426: in dbSNP:rs11550169</ul>									<li>rs34660136</li><li>rs11550169</li><li>rs2980619</li><li>rs2980618</li>	2
Q96RT1	55914	<ul><li>S->L at 274: in dbSNP:rs3213837<li>K->E at 746: in dbSNP:rs16894812<li>K->R at 914: in dbSNP:rs34521887<li>G->V at 1089: in dbSNP:rs35601230<li>S->L at 1112: in dbSNP:rs3805466<li>K->E at 1207</ul>									<li>rs34521887</li><li>rs3213837</li><li>rs16894812</li><li>rs3805466</li><li>rs35601230</li>	2
Q96RT6	64693	<ul><li>I->V at 682: in dbSNP:rs9946136</ul>									rs9946136	2
Q96RT7	85378	<ul><li>L->S at 567: in dbSNP:rs4838865</ul>									rs4838865	2
Q96RT8	114791	<ul><li>E->D at 662: in dbSNP:rs35612840</ul>									rs35612840	2
Q96RU3	23048	<ul><li>S->N at 490: in dbSNP:rs1023000</ul>									rs1023000	2
Q96RU7	57761	<ul><li>T->I at 60: in a glioblastoma multiforme sample; somatic mutation<li>Q->R at 84: in dbSNP:rs2295490<li>R->H at 153: in dbSNP:rs35051116<li>R->H at 274: in dbSNP rsrs56291463<li>E->K at 347: in dbSNP rsrs56342286</ul>									<li>rs56291463</li><li>rs35051116</li><li>rs56342286</li><li>rs2295490</li>	2
Q96RU8	10221	<ul><li>S->R at 173: in dbSNP rsrs56285697<li>T->M at 215: in dbSNP rsrs34349706<li>V->I at 267: in dbSNP rsrs56056430<li>R->C at 298: in dbSNP rsrs55953723<li>E->A at 360: in dbSNP rsrs35454769<li>E->D at 360: in dbSNP:rs16900603<li>F->L at 371: in a lung large cell carcinoma sample; somatic mutation</ul>									<li>rs16900603</li><li>rs56056430</li><li>rs34349706</li><li>rs56285697</li><li>rs55953723</li><li>rs35454769</li>	2
Q96RV3	22990	<ul><li>A->T at 594: in dbSNP:rs34222509<li>L->I at 809: in dbSNP:rs11625687<li>L->I at 814: in dbSNP:rs11625690</ul>									<li>rs34222509</li><li>rs11625690</li><li>rs11625687</li>	2
Q96RW7	83872	<ul><li>T->A at 1056: in dbSNP:rs7539719<li>V->F at 1184: in dbSNP:rs12239296<li>A->V at 1624<li>M->I at 2327: in dbSNP:rs12067376<li>I->T at 2418: in dbSNP:rs12129650<li>E->G at 2893: in dbSNP:rs10798035<li>H->Y at 4084: in dbSNP rsrs41317489<li>Q->R at 4437: in dbSNP:rs10911825<li>A->T at 4720: in dbSNP:rs6693069<li>D->V at 5087: in dbSNP rsrs41317507<li>Q->R at 5345: in ARMD1, MIM: 603075</ul>								Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	<li>rs12239296</li><li>rs10911825</li><li>rs10798035</li><li>rs41317507</li><li>rs12129650</li><li>rs12067376</li><li>rs6693069</li><li>rs41317489</li><li>rs7539719</li>	2
Q96RY7	9742	<ul><li>D->A at 165: in dbSNP:rs35588860<li>R->P at 279: in dbSNP:rs4786350<li>R->Q at 280: in dbSNP:rs35404373<li>V->I at 398: in dbSNP:rs34762152<li>A->V at 451: in dbSNP:rs8060532<li>R->Q at 621: in dbSNP:rs11648609<li>P->S at 670: in dbSNP:rs34900355<li>A->V at 1070: in dbSNP:rs2235638</ul>									<li>rs8060532</li><li>rs35404373</li><li>rs34900355</li><li>rs2235638</li><li>rs35588860</li><li>rs11648609</li><li>rs34762152</li><li>rs4786350</li>	2
Q96S06	64788	<ul><li>V->A at 164: in dbSNP:rs35663121<li>S->P at 203: in dbSNP:rs11540337<li>R->Q at 364: in dbSNP:rs35168378<li>P->R at 562: in dbSNP:rs4984948</ul>									<li>rs35663121</li><li>rs35168378</li><li>rs4984948</li><li>rs11540337</li>	2
Q96S37	116085	<ul><li>G->W at 65: in dbSNP:rs12800450<li>R->H at 90: in RH; strongly reduced urate transport, MIM: 220150<li>R->C at 92, MIM: 220150<li>V->M at 138: in RH; strongly reduced urate transport, MIM: 220150<li>G->S at 164: in RH; reduced urate transport, MIM: 220150<li>T->M at 217: in RH; strongly reduced urate transport, MIM: 220150<li>A->V at 226, MIM: 220150<li>R->G at 284: in some gout patients; uncertain pathological significance, MIM: 220150<li>G->C at 290: in some gout patients; uncertain pathological significance, MIM: 220150<li>Q->E at 297: in some gout patients; uncertain pathological significance, MIM: 220150<li>E->D at 298: in RH; strongly reduced urate transport, MIM: 220150<li>I->S at 305: in some gout patients; uncertain pathological significance, MIM: 220150<li>Q->L at 312, MIM: 220150<li>Missing  at 313-333: affects urate transport, MIM: 220150<li>Q->L at 382: in RH; strongly reduced urate transport, MIM: 220150<li>L->R at 418: in RH; strongly reduced urate transport, MIM: 220150<li>M->T at 430: in RH; reduced urate transport, MIM: 220150<li>R->H at 477: in RH, MIM: 220150</ul>	urate transport	GO:0015747						Renal hypouricemia (RH) [MIM:220150]	rs12800450	2
Q96S38	26750	<ul><li>P->T at 42: in dbSNP rsrs56087470<li>E->K at 96: in dbSNP rsrs56032860<li>P->L at 319: in dbSNP rsrs56369827<li>P->L at 424: in dbSNP rsrs56183862<li>A->P at 546: in dbSNP:rs35281247<li>L->I at 554: in a lung neuroendocrine carcinoma sample; somatic mutation<li>P->R at 561: in dbSNP:rs17020314<li>N->S at 575: in dbSNP rsrs56060894<li>G->A at 663: in an ovarian mucinous carcinoma sample; somatic mutation<li>L->F at 853: in dbSNP:rs34080597<li>C->Y at 1003: in a lung adenocarcinoma sample; somatic mutation<li>E->K at 1022: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>									<li>rs56183862</li><li>rs34080597</li><li>rs35281247</li><li>rs17020314</li><li>rs56369827</li><li>rs56060894</li><li>rs56032860</li><li>rs56087470</li>	2
Q96S42	4838	<ul><li>H->R at 165: in dbSNP:rs1904589<li>R->Q at 183: in situs ambiguus, MIM: 601265<li>E->K at 203: in dbSNP:rs10999334, MIM: 601265<li>E->K at 279: in a colorectal cancer sample; somatic mutation, MIM: 601265</ul>								Situs ambiguus [MIM:601265]	<li>rs1904589</li><li>rs10999334</li>	2
Q96S44	112858	<ul><li>A->T at 25<li>R->Q at 123: in dbSNP:rs34983477<li>T->A at 129: in dbSNP:rs11550540<li>T->A at 145: in dbSNP rsrs56008408</ul>									<li>rs11550540</li><li>rs34983477</li><li>rs56008408</li>	2
Q96S52	94005	<ul><li>M->I at 159: in a breast cancer sample; somatic mutation<li>R->H at 253: in dbSNP:rs34669811</ul>									rs34669811	2
Q96S53	10420	<ul><li>G->A at 11: in a breast infiltrating ductal carcinoma sample; somatic mutation</ul>										2
Q96S66	23155	<ul><li>S->R at 368: in dbSNP:rs168107</ul>									rs168107	2
Q96S79	91608	<ul><li>V->M at 52: in a breast cancer sample; somatic mutation</ul>										2
Q96S96	157310	<ul><li>K->E at 125: in dbSNP:rs1129474<li>E->G at 211: in dbSNP:rs1047406</ul>									<li>rs1047406</li><li>rs1129474</li>	2
Q96SB4	6732	<ul><li>I->T at 72: in dbSNP:rs35519113</ul>									rs35519113	2
Q96SB8	79677	<ul><li>A->V at 292: in a breast cancer sample; somatic mutation<li>R->G at 464: in dbSNP:rs35195207<li>A->T at 691: in dbSNP:rs1065381<li>K->Q at 928: in dbSNP:rs35257753<li>I->M at 1046: in dbSNP:rs10221907</ul>									<li>rs10221907</li><li>rs35257753</li><li>rs35195207</li><li>rs1065381</li>	2
Q96SD1	64421	<ul><li>H->D at 35: in Omenn syndrome, MIM: 603554<li>G->V at 118: in RS-SCID, MIM: 603554<li>G->E at 135: in RS-SCID, MIM: 603554<li>P->R at 171: in dbSNP:rs35441642, MIM: 603554<li>H->R at 243: in dbSNP:rs12768894, MIM: 603554<li>S->C at 320: in dbSNP:rs41298896, MIM: 603554</ul>								Omenn syndrome (OS) [MIM:603554]	<li>rs12768894</li><li>rs35441642</li><li>rs41298896</li>	2
Q96SE0	84696	<ul><li>P->Q at 54: in dbSNP:rs34127901<li>E->D at 137: in dbSNP:rs6715286<li>W->C at 371: in dbSNP:rs2304678</ul>									<li>rs6715286</li><li>rs34127901</li><li>rs2304678</li>	2
Q96SE7	84671	<ul><li>M->V at 117: in dbSNP:rs34656962</ul>									rs34656962	2
Q96SF2	150160	<ul><li>R->W at 320: in dbSNP:rs2236639</ul>									rs2236639	2
Q96SI1	79047	<ul><li>G->S at 64: in dbSNP:rs17849437</ul>									rs17849437	2
Q96SI9	55342	<ul><li>G->R at 280: in a breast cancer sample; somatic mutation</ul>										2
Q96SK2	84928	<ul><li>P->R at 469: in dbSNP:rs17857472<li>H->R at 505: in dbSNP:rs17854938</ul>									<li>rs17857472</li><li>rs17854938</li>	2
Q96SN7	80228	<ul><li>A->P at 15: in dbSNP:rs34947403</ul>									rs34947403	2
Q96SN8		<ul><li>E->Q at 289: in dbSNP:rs4836822<li>R->T at 1045: in dbSNP:rs3780679<li>V->L at 1540: in dbSNP:rs4837768</ul>									<li>rs4836822</li><li>rs4837768</li><li>rs3780679</li>	2
Q96SQ7	84913	<ul><li>L->P at 150: in dbSNP:rs17851881</ul>									rs17851881	2
Q96SQ9	29785	<ul><li>P->L at 466: in dbSNP:rs34971233</ul>									rs34971233	2
Q96SR6	84911	<ul><li>G->E at 168: in dbSNP:rs3108171</ul>									rs3108171	2
Q96ST8	84902	<ul><li>R->W at 194: in dbSNP:rs3764633<li>V->A at 398: in dbSNP:rs4805825</ul>									<li>rs4805825</li><li>rs3764633</li>	2
Q96SZ5	84890	<ul><li>G->W at 25: in dbSNP rsrs2236295<li>P->A at 39: in dbSNP:rs10995311<li>P->S at 266: in dbSNP:rs569705</ul>									<li>rs10995311</li><li>rs569705</li><li>rs2236295</li>	2
Q96T17	256714	<ul><li>A->P at 32: in a breast cancer sample; somatic mutation<li>N->S at 182: in dbSNP:rs34519770</ul>									rs34519770	2
Q96T21	79048	<ul><li>R->Q at 540: in ATHYHM, MIM: 609698</ul>								Abnormal thyroid hormone metabolism [MIM:609698]		2
Q96T23		<ul><li>S->P at 465: in dbSNP:rs7950873</ul>									rs7950873	2
Q96T51	80230	<ul><li>C->F at 267: in a breast cancer sample; somatic mutation<li>H->Q at 298: in dbSNP:rs6879322</ul>									rs6879322	2
Q96T53	619373	<ul><li>G->E at 231: in dbSNP:rs16876563</ul>									rs16876563	2
Q96T54	89822	<ul><li>S->G at 21: in dbSNP:rs10947804<li>M->L at 253: in dbSNP:rs35677794<li>R->Q at 296: in dbSNP:rs2758910</ul>									<li>rs2758910</li><li>rs35677794</li><li>rs10947804</li>	2
Q96T55	83795	<ul><li>P->H at 301: in dbSNP:rs11756091</ul>									rs11756091	2
Q96T58	23013	<ul><li>A->V at 970: in dbSNP:rs848208<li>D->H at 990: in a breast cancer sample; somatic mutation<li>L->P at 1091: in dbSNP:rs848209<li>D->E at 1363: in dbSNP:rs12095818<li>R->I at 1488: in a breast cancer sample; somatic mutation<li>N->D at 2360: in dbSNP:rs848210</ul>									<li>rs12095818</li><li>rs848210</li><li>rs848209</li><li>rs848208</li>	2
Q96T59	146822	<ul><li>R->Q at 24: in dbSNP:rs17679866</ul>									rs17679866	2
Q96T60	11284	<ul><li>P->S at 20: in dbSNP:rs3739168<li>A->V at 63: in dbSNP:rs3739173<li>R->S at 180: in dbSNP:rs3739185<li>Y->N at 196: in dbSNP:rs3739186<li>V->G at 478: in dbSNP:rs3739206</ul>									<li>rs3739185</li><li>rs3739168</li><li>rs3739186</li><li>rs3739206</li><li>rs3739173</li>	2
Q96T68	83852	<ul><li>E->G at 117: in dbSNP:rs7998427<li>V->M at 473: in dbSNP:rs2057413</ul>									<li>rs7998427</li><li>rs2057413</li>	2
Q96T76	64210	<ul><li>A->G at 68: in dbSNP:rs2275586<li>R->W at 98: in dbSNP:rs29001280<li>V->I at 197: in dbSNP:rs29001285<li>R->H at 306: in dbSNP:rs29001306<li>M->V at 365: in dbSNP:rs29001309<li>Q->P at 409: in dbSNP:rs29001311<li>Q->E at 434: in dbSNP:rs29001314<li>V->I at 526: in dbSNP:rs17112809<li>A->V at 558: in dbSNP:rs12360068<li>G->D at 790: in dbSNP:rs3740526<li>R->H at 983: in dbSNP:rs29001332</ul>									<li>rs17112809</li><li>rs2275586</li><li>rs29001309</li><li>rs29001306</li><li>rs12360068</li><li>rs29001285</li><li>rs29001332</li><li>rs29001314</li><li>rs3740526</li><li>rs29001311</li><li>rs29001280</li>	2
Q96T88	29128	<ul><li>D->H at 240: in dbSNP rsrs17886098<li>E->K at 379: in dbSNP:rs17885791<li>A->T at 638: in dbSNP:rs17883331<li>T->M at 642: in dbSNP rsrs17884843<li>L->F at 713</ul>									<li>rs17885791</li><li>rs17884843</li><li>rs17886098</li><li>rs17883331</li>	2
Q96TC7	55177	<ul><li>Q->H at 33: in dbSNP:rs11558807</ul>									rs11558807	2
Q99062	1441	<ul><li>M->T at 231: in dbSNP:rs3917973<li>D->N at 320: in dbSNP:rs3918018<li>Q->R at 346: in dbSNP:rs3917974<li>E->K at 405: in dbSNP:rs3918019<li>R->Q at 440: in dbSNP:rs3918020<li>D->H at 510: in dbSNP:rs3917991<li>Y->H at 562: in dbSNP:rs3917996<li>R->C at 583: in dbSNP:rs3917997</ul>									<li>rs3917996</li><li>rs3918019</li><li>rs3917997</li><li>rs3918018</li><li>rs3917991</li><li>rs3917973</li><li>rs3917974</li><li>rs3918020</li>	2
Q99081	6938	<ul><li>G->S at 300: in dbSNP:rs12442879</ul>									rs12442879	2
Q99102	4585	<ul><li>G->D at 37: in dbSNP:rs2259292<li>T->A at 161: in dbSNP:rs2293232<li>S->A at 585: in dbSNP:rs2246901</ul>									<li>rs2293232</li><li>rs2259292</li><li>rs2246901</li>	2
Q99217	265	<ul><li>W->S at 4: in AIH1, MIM: 301200<li>ILFA->T at 5-8: in AIH1, MIM: 301200<li>T->I at 37: in AIH1, MIM: 301200<li>P->T at 56: in AIH1, MIM: 301200</ul>								Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]		2
Q99250	6326	<ul><li>R->K at 19: in dbSNP:rs17183814<li>R->W at 188: in GEFS+; mutant channel inactivates more slowly than wild-type whereas the Na, MIM: 604233<li>R->Q at 223: in BFNIS, MIM: 607745<li>F->Y at 385: in dbSNP:rs2228988, MIM: 607745<li>R->Q at 524, MIM: 607745<li>V->I at 892: in BFNIS, MIM: 607745<li>L->I at 1003: in BFNIS, MIM: 607745<li>R->Q at 1319: in BFNIS, MIM: 607745<li>L->F at 1330: in BFNIS, MIM: 607745<li>L->V at 1563: in BFNIS, MIM: 607745<li>R->T at 1902: associated with autism, MIM: 607745</ul>								<li>Generalized epilepsy with febrile seizures plus (GEFS+) [MIM:604233]</li><li>Benign familial neonatal-infantile seizures (BFNIS) [MIM:607745]</li>	<li>rs2228988</li><li>rs17183814</li>	2
Q99259	2571	<ul><li>S->C at 12: in SCP, MIM: 603513<li>I->L at 228: in dbSNP:rs45566933, MIM: 603513<li>V->G at 474: in dbSNP:rs769403, MIM: 603513<li>R->Q at 532: in dbSNP:rs769402, MIM: 603513<li>F->L at 565: in dbSNP:rs1049736, MIM: 603513</ul>							<li>O97374</li><li>P58099</li><li>P12020</li><li>P03599</li><li>Q8NZ80</li><li>P04572</li><li>P15926</li><li>P36341</li><li>P04571</li><li>P31630</li><li>P02637</li><li>P13561</li><li>P38485</li><li>Q8K5Q0</li><li>Q5X9R0</li><li>P23009</li><li>P02692</li>	Autosomal recessive symmetric spastic cerebral palsy (SCP) [MIM:603513]	<li>rs769402</li><li>rs769403</li><li>rs1049736</li><li>rs45566933</li>	2
Q99435	4753	<ul><li>V->I at 5: in dbSNP:rs2658973<li>N->D at 347: in dbSNP:rs17574839<li>P->L at 631: in dbSNP:rs1050710</ul>									<li>rs17574839</li><li>rs2658973</li><li>rs1050710</li>	2
Q99436	5695	<ul><li>V->A at 39: in dbSNP:rs4574</ul>									rs4574	2
Q99437	533	<ul><li>V->M at 155: in a breast cancer sample; somatic mutation</ul>										2
Q99440	10141	<ul><li>N->K at 15: in dbSNP:rs886532</ul>									rs886532	2
Q99445	2765	<ul><li>R->C at 54: in dbSNP:rs3764795</ul>									rs3764795	2
Q99453	8929	<ul><li>R->L at 100: germline mutation which predisposes to NB; familial case of NB<li>R->G at 141: germline mutation which predisposes to NB; isolated case of NB associated with HSCR: in dbSNP rsrs28939716<li>R->Q at 141: in CCHS, MIM: 209880<li>Q->R at 143: in CCHS, MIM: 209880<li>G->D at 197: mutation which predisposes to NB, MIM: 209880<li>A->AAAAAAAAAAA at 241: in CCHS, MIM: 209880<li>Missing at 254-258, MIM: 209880<li>Missing at 255-259, MIM: 209880</ul>								Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	rs28939716	2
Q99456	3859	<ul><li>P->S at 15: in dbSNP:rs11650915<li>R->W at 20: in dbSNP:rs17566772<li>M->T at 129: in MCD: in dbSNP rsrs28936695, MIM: 122100<li>Q->P at 130: in MCD: in dbSNP rsrs58864803, MIM: 122100<li>R->G at 135: in MCD: in dbSNP rsrs58410481, MIM: 122100<li>R->I at 135: in MCD, MIM: 122100<li>R->S at 135: in MCD: in dbSNP rsrs61282718, MIM: 122100<li>R->T at 135: in MCD: in dbSNP rsrs57218384, MIM: 122100<li>A->P at 137: in MCD: in dbSNP rsrs58038639, MIM: 122100<li>L->R at 140: in MCD: in dbSNP rsrs58918655, MIM: 122100<li>V->L at 143: in MCD: in dbSNP rsrs58343600, MIM: 122100<li>L->LISNLEAQLL at 399: in MCD, MIM: 122100<li>I->S at 426: in MCD: in dbSNP rsrs59350319, MIM: 122100<li>Y->C at 429: in MCD: in dbSNP rsrs59202432, MIM: 122100<li>Y->D at 429: in MCD: in dbSNP rsrs58162394, MIM: 122100</ul>							<li>Q99J39</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	Juvenile epithelial corneal dystrophy of Meesmann (MCD) [MIM:122100]	<li>rs58343600</li><li>rs61282718</li><li>rs58918655</li><li>rs28936695</li><li>rs58162394</li><li>rs57218384</li><li>rs58864803</li><li>rs59350319</li><li>rs58038639</li><li>rs58410481</li><li>rs17566772</li><li>rs59202432</li><li>rs11650915</li>	2
Q99457	4675	<ul><li>P->A at 224: in dbSNP:rs1045686</ul>									rs1045686	2
Q99459	988	<ul><li>Y->C at 459: in dbSNP:rs11572006</ul>									rs11572006	2
Q99466	4855	<ul><li>K->Q at 117: in dbSNP:rs915894<li>P->L at 204: in dbSNP:rs2071282<li>P->L at 206: in dbSNP:rs2071282<li>S->L at 244: in dbSNP:rs8192585<li>D->G at 272: in dbSNP:rs520692<li>E->Q at 317<li>T->A at 320: in dbSNP:rs422951<li>G->S at 534: in dbSNP:rs8192591<li>S->I at 809: in dbSNP:rs3132961<li>K->R at 851: in dbSNP:rs2022060<li>G->R at 942: in dbSNP:rs17604492<li>R->P at 1346: in dbSNP:rs8192573</ul>									<li>rs8192573</li><li>rs17604492</li><li>rs8192585</li><li>rs915894</li><li>rs8192591</li><li>rs2071282</li><li>rs2022060</li><li>rs520692</li><li>rs3132961</li><li>rs422951</li>	2
Q99467	4064	<ul><li>N->K at 53: in dbSNP:rs16875312<li>S->R at 99: in dbSNP:rs2230520</ul>									<li>rs2230520</li><li>rs16875312</li>	2
Q99469	6769	<ul><li>N->S at 262: in dbSNP:rs7634545</ul>									rs7634545	2
Q99470	6388	<ul><li>A->T at 15: in dbSNP:rs35404078</ul>									rs35404078	2
Q99489	8528	<ul><li>F->L at 136: in a breast cancer sample; somatic mutation<li>Q->E at 189: in dbSNP:rs17622<li>H->Y at 230: in dbSNP:rs17621<li>L->R at 255: in dbSNP:rs17623</ul>									<li>rs17623</li><li>rs17621</li><li>rs17622</li>	2
Q99490	116986	<ul><li>T->A at 339: in a breast cancer sample; somatic mutation<li>V->A at 455: in a glioblastoma cell line<li>G->S at 507: in dbSNP:rs2301553<li>R->G at 518: in a sarcoma cell line<li>T->I at 568: in a neuroblastoma cell line<li>A->V at 651: in a glioblastoma cell line<li>E->V at 767: in a glioblastoma cell line<li>D->Y at 816: in a breast cancer sample; somatic mutation<li>N->D at 939: in a glioblastoma cell line<li>V->M at 947: in a sarcoma cell line<li>S->P at 1022: in a glioblastoma cell line</ul>									rs2301553	2
Q99497	11315	<ul><li>M->I at 26: in PARK7; does not affect protein stability and degradation; does not interfere with homodimerization;, MIM: 606324<li>E->D at 64: in PARK7; no apparent effect on protein stability, MIM: 606324<li>R->Q at 98, MIM: 606324<li>A->T at 104: in PARK7, MIM: 606324<li>D->A at 149: in PARK7, MIM: 606324<li>G->S at 150, MIM: 606324<li>E->K at 163, MIM: 606324<li>L->P at 166: in PARK7; reduces protein stability and leads to increased degradation; interferes with homodimerization; abolishes interaction with PIAS2; strongly reduces chaperone activity, MIM: 606324<li>A->S at 171, MIM: 606324</ul>							<li>O75928</li><li>Q5E946</li><li>Q95LI9</li><li>Q7TQ35</li><li>Q99497</li><li>Q8UW59</li>	Autosomal recessive early-onset Parkinson disease 7 (PARK7) [MIM:606324, 168600]		2
Q99500	1903	<ul><li>R->Q at 243: in dbSNP:rs34075341</ul>									rs34075341	2
Q99502	2138	<ul><li>P->A at 20: in dbSNP:rs1445404<li>S->G at 242: in BOS1, MIM: 602588<li>E->K at 363: in anterior segment anomalies, MIM: 602588<li>G->S at 426: in BOR1; with cataract, MIM: 113650<li>D->G at 429: in BOR1, MIM: 113650<li>R->Q at 440: in BOR1, MIM: 113650<li>S->P at 487: in BOR1, MIM: 113650<li>L->R at 505: in BOR1, MIM: 113650<li>R->G at 547: in anterior segment anomalies; with cataract, MIM: 113650<li>L->P at 583: in BOR1, MIM: 113650</ul>							<li>Q6BVM4</li><li>P25385</li><li>Q6BZQ6</li><li>Q75CY3</li><li>Q8VYR7</li><li>Q6FKA1</li><li>Q6CRX0</li>	<li>Branchiootic syndrome type 1 (BOS1) [MIM:602588]</li><li>Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]</li>	rs1445404	2
Q99518	2327	<ul><li>D->G at 36: in dbSNP:rs2020870<li>V->I at 59: in dbSNP rsrs55708639<li>F->Y at 69: in dbSNP rsrs28745274<li>F->S at 81: in dbSNP:rs2020860<li>F->S at 182: in dbSNP:rs2307492<li>S->L at 195: in dbSNP:rs2020862<li>R->Q at 238: in dbSNP rsrs28369895<li>E->G at 314: in dbSNP rsrs2020863<li>R->T at 391: in dbSNP rsrs28369899<li>N->K at 413: in dbSNP:rs2020865</ul>									<li>rs2020860</li><li>rs28369899</li><li>rs2307492</li><li>rs28745274</li><li>rs55708639</li><li>rs2020870</li><li>rs2020862</li><li>rs2020863</li><li>rs2020865</li><li>rs28369895</li>	2
Q99519	4758	<ul><li>V->M at 54: in sialidosis; type 1; mild mutation as residual activity is still measurable, MIM: 256550<li>G->V at 68: in sialidosis; type 2; less than 10% of activity, MIM: 256550<li>P->L at 80: in sialidosis; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes, MIM: 256550<li>G->A at 88: in dbSNP:rs34712643, MIM: 256550<li>L->R at 91: in sialidosis; type 2, MIM: 256550<li>S->G at 182: in sialidosis; type 1; normally processed, MIM: 256550<li>V->M at 217: in sialidosis; type 1; partial transport and residual transport activity: in dbSNP rsrs28940583, MIM: 256550<li>G->A at 219: in sialidosis; type 1; unable to reach the lysosomes, MIM: 256550<li>R->P at 225: in sialidosis; type 2; impaired enzyme folding: in dbSNP rsrs28940584, MIM: 256550<li>G->R at 227: in sialidosis; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments, MIM: 256550<li>L->H at 231: in sialidosis; type 1; unable to reach the lysosomes, MIM: 256550<li>W->R at 240: in sialidosis; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes, MIM: 256550<li>G->R at 243: in sialidosis; type 1; no enzyme activity and no transport to the lysosome, MIM: 256550<li>F->Y at 260: in sialidosis; infantile type 2; catalytically inactive; rapid intralysosomal degradation, MIM: 256550<li>L->F at 270: in sialidosis; type 2; reduction in enzyme activity; rapid intralysosomal degradation, MIM: 256550<li>L->P at 270: in sialidosis, MIM: 256550<li>R->S at 294: in sialidosis; type 1; mild mutation as residual activity is still measurable, MIM: 256550<li>A->V at 298: in sialidosis; type 2; less than 10% of activity; rapid intralysosomal degradation; impaired enzyme folding, MIM: 256550<li>P->S at 316: in sialidosis; type 1; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes, MIM: 256550<li>G->S at 328: in sialidosis; type 1; reduction in enzyme activity, MIM: 256550<li>P->Q at 335: in sialidosis; type 2; unable to reach the lysosomes, MIM: 256550<li>R->G at 341: in sialidosis; type 2; affects substrate binding or catalysis, MIM: 256550<li>L->P at 363: in sialidosis; infantile type 2; unable to reach the lysosomes, MIM: 256550<li>Y->C at 370: in sialidosis; infantile type 2; catalytically inactive, MIM: 256550<li>Y->YHY at 400: in sialidosis; type 1; mild mutation as residual activity is still measurable, MIM: 256550</ul>	transport	GO:0006810	binding	GO:0005488	<li>endoplasmic reticulum</li><li>lysosomes</li>	<li>GO:0005783</li><li>GO:0005764</li>		Sialidosis [MIM:256550]	<li>rs34712643</li><li>rs28940583</li><li>rs28940584</li>	2
Q99523	6272	<ul><li>D->Y at 358: in dbSNP:rs2228605</ul>									rs2228605	2
Q99527	2852	<ul><li>P->L at 16: in dbSNP:rs11544331</ul>									rs11544331	2
Q99538	5641	<ul><li>V->I at 18: in dbSNP:rs2236264</ul>									rs2236264	2
Q99542	4327	<ul><li>R->C at 103: in dbSNP:rs17844794<li>P->S at 245: in dbSNP:rs1056784<li>P->T at 488: in dbSNP:rs17118042<li>T->M at 491: in dbSNP rsrs17844806</ul>									<li>rs17844806</li><li>rs17844794</li><li>rs17118042</li><li>rs1056784</li>	2
Q99550	10198	<ul><li>G->S at 125: in dbSNP:rs36121382<li>A->D at 926: in dbSNP:rs1260318</ul>									<li>rs36121382</li><li>rs1260318</li>	2
Q99551	7978	<ul><li>A->T at 231: in dbSNP:rs17856025<li>A->T at 294: in dbSNP:rs10266424</ul>									<li>rs10266424</li><li>rs17856025</li>	2
Q99558	9020	<ul><li>S->N at 140: in dbSNP:rs11574819<li>T->M at 255: in dbSNP:rs11574820<li>G->K at 514: in a lung neuroendocrine carcinoma sample; somatic mutation; requires 2 nucleotide substitutions<li>H->Y at 674: in dbSNP:rs11867907<li>T->A at 764<li>T->I at 852: in an ovarian mucinous carcinoma sample; somatic mutation<li>P->H at 928</ul>									<li>rs11867907</li><li>rs11574819</li><li>rs11574820</li>	2
Q99567	4927	<ul><li>N->S at 289: in dbSNP:rs1806245</ul>									rs1806245	2
Q99569		<ul><li>Missing at 448</ul>										2
Q99570	30849	<ul><li>F->L at 273: in dbSNP rsrs55951445<li>R->H at 342: in dbSNP rsrs56295394<li>R->W at 347: in dbSNP rsrs34797184<li>T->I at 388: in dbSNP rsrs34663155<li>D->N at 393: in dbSNP rsrs34633532<li>L->V at 699: in dbSNP rsrs56369596<li>R->Q at 936: in a breast cancer sample; somatic mutation<li>G->V at 1043: in dbSNP rsrs56160735</ul>									<li>rs34633532</li><li>rs55951445</li><li>rs34797184</li><li>rs56295394</li><li>rs34663155</li><li>rs56369596</li><li>rs56160735</li>	2
Q99571	5025	<ul><li>A->S at 6: in dbSNP:rs1044249<li>S->G at 242: in dbSNP:rs25644</ul>									<li>rs25644</li><li>rs1044249</li>	2
Q99572	5027	<ul><li>N->S at 25: in a colorectal cancer sample; somatic mutation<li>H->Y at 155: in dbSNP:rs208294<li>R->H at 270: in dbSNP:rs7958311<li>T->S at 357: in dbSNP:rs2230911<li>Q->R at 460: in dbSNP:rs2230912<li>E->A at 496: in a polymorphism that results in a loss of function; dbSNP:rs3751143<li>R->L at 574: in a colorectal cancer sample; somatic mutation</ul>									<li>rs208294</li><li>rs2230912</li><li>rs7958311</li><li>rs3751143</li><li>rs2230911</li>	2
Q99574	5274	<ul><li>S->P at 49: in FEN1B; Syracuse, MIM: 604218<li>S->R at 52: in FEN1B; Portland, MIM: 604218</ul>							P70054	Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]		2
Q99575		<ul><li>E->Q at 675: in a breast cancer sample; somatic mutation</ul>										2
Q99592	10472	<ul><li>E->G at 132: in dbSNP:rs1048824</ul>									rs1048824	2
Q99593	6910	<ul><li>Q->K at 49: in HOS, MIM: 142900<li>I->T at 54: in HOS, MIM: 142900<li>G->R at 80: in HOS; significant cardiac malformations but only minor skeletal abnormalities, MIM: 142900<li>R->Q at 237: in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6, MIM: 142900<li>R->W at 237: in HOS; extensive upper limb malformations, MIM: 142900</ul>							<li>P13539</li><li>P13533</li><li>P04460</li>	Holt-Oram syndrome (HOS) [MIM:142900]		2
Q99594	7005	<ul><li>T->M at 254: in dbSNP:rs35080860</ul>									rs35080860	2
Q99595	10440	<ul><li>V->I at 113: in dbSNP:rs4648</ul>									rs4648	2
Q99611	22928	<ul><li>P->A at 269: in dbSNP:rs1804600</ul>									rs1804600	2
Q99616	6357	<ul><li>A->S at 5: in dbSNP:rs3136677<li>N->S at 29: in dbSNP:rs34566308</ul>									<li>rs34566308</li><li>rs3136677</li>	2
Q99626	1045	<ul><li>S->P at 293: in dbSNP:rs1805107</ul>									rs1805107	2
Q99638	5883	<ul><li>C->F at 3: in dbSNP rsrs11575913<li>L->Q at 71: in dbSNP:rs2422490<li>S->A at 100: in dbSNP:rs2066492<li>H->R at 239: in dbSNP:rs17880039<li>M->T at 307: in dbSNP:rs17882466</ul>									<li>rs17880039</li><li>rs17882466</li><li>rs2066492</li><li>rs2422490</li><li>rs11575913</li>	2
Q99640	9088	<ul><li>E->Q at 103: in dbSNP rsrs55834293<li>R->C at 140: in dbSNP:rs4149796<li>R->H at 246: in dbSNP rsrs35192104<li>E->K at 351: in dbSNP rsrs56382954<li>P->R at 417: in dbSNP:rs4149800<li>V->A at 445: in dbSNP:rs10546</ul>									<li>rs35192104</li><li>rs10546</li><li>rs4149796</li><li>rs55834293</li><li>rs56382954</li><li>rs4149800</li>	2
Q99645	1833	<ul><li>S->C at 150: in dbSNP:rs17784152</ul>									rs17784152	2
Q99650	9180	<ul><li>H->Q at 187: in dbSNP:rs34675408<li>G->W at 210: in dbSNP:rs17855841<li>E->K at 527: in dbSNP:rs10941412<li>D->N at 553: in dbSNP:rs2278329<li>G->A at 618: in AMYL9, MIM: 105250<li>I->T at 691: in AMYL9, MIM: 105250<li>P->S at 936: in dbSNP:rs3749737, MIM: 105250<li>P->R at 959: in dbSNP:rs34080825, MIM: 105250</ul>								Amyloidosis type 9 (AMYL9) [MIM:105250]	<li>rs10941412</li><li>rs34080825</li><li>rs34675408</li><li>rs17855841</li><li>rs2278329</li><li>rs3749737</li>	2
Q99661	11004	<ul><li>I->L at 449: in dbSNP:rs4342887</ul>									rs4342887	2
Q99665	3595	<ul><li>M->V at 13: in dbSNP:rs17129772<li>R->Q at 149: in dbSNP:rs17129792<li>I->V at 185: in dbSNP:rs2307146<li>T->I at 201: in dbSNP:rs7526769<li>R->G at 313<li>G->R at 420: in dbSNP:rs2307148<li>G->S at 420: in dbSNP:rs2307148<li>Q->H at 426: in dbSNP:rs2307145<li>G->D at 465: in dbSNP:rs2307153<li>A->V at 625: in dbSNP:rs2307154<li>H->R at 720<li>L->R at 808: in dbSNP:rs17838066</ul>									<li>rs17838066</li><li>rs7526769</li><li>rs2307153</li><li>rs2307154</li><li>rs17129772</li><li>rs2307145</li><li>rs2307146</li><li>rs17129792</li><li>rs2307148</li>	2
Q99674	10669	<ul><li>A->V at 212: in dbSNP:rs11893478<li>K->N at 232: in dbSNP:rs11889831<li>G->E at 243: in dbSNP:rs1057389</ul>									<li>rs1057389</li><li>rs11889831</li><li>rs11893478</li>	2
Q99675	10668	<ul><li>C->Y at 117: in dbSNP:rs11555279</ul>									rs11555279	2
Q99676	7738	<ul><li>S->A at 27: in dbSNP:rs1883216</ul>									rs1883216	2
Q99683	4217	<ul><li>G->R at 1006: in dbSNP rsrs45626535<li>I->T at 1214: in dbSNP rsrs56379668<li>I->V at 1250: in dbSNP:rs35551087<li>T->I at 1314: in dbSNP rsrs45599539<li>D->N at 1315: in dbSNP rsrs41288957</ul>									<li>rs45626535</li><li>rs56379668</li><li>rs41288957</li><li>rs45599539</li><li>rs35551087</li>	2
Q99684	2672	<ul><li>S->N at 36: in dbSNP:rs34631763<li>N->S at 382: in SCN: in dbSNP rsrs28936381, MIM: 202700<li>K->R at 403: in NI-CINA: in dbSNP rsrs28936382, MIM: 607847</ul>								<li>Autosomal dominant severe congenital neutropenia (SCN) [MIM:202700]</li><li>Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]</li>	<li>rs28936382</li><li>rs28936381</li><li>rs34631763</li>	2
Q99689	9638	<ul><li>D->E at 123: in dbSNP:rs597570</ul>									rs597570	2
Q99697	5308	<ul><li>R->W at 89: in IRID2, MIM: 137600<li>L->Q at 100: in RIEG1, MIM: 180500<li>R->H at 108: in RDC, MIM: 180550<li>T->P at 114: in RIEG1, MIM: 180500<li>R->H at 115: in IRID2, MIM: 137600<li>Missing  at 128-134: in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity, MIM: 137600<li>V->L at 129: in RIEG1; more than 200% increase in transactivation activity, MIM: 180500<li>R->P at 137: in RIEG1, MIM: 180500</ul>			DNA binding	GO:0003677			Q99697	<li>Ring dermoid of cornea (RDC) [MIM:180550]</li><li>Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]</li><li>Rieger syndrome type 1 (RIEG1) [MIM:180500]</li>		2
Q99698	1130	<ul><li>H->R at 123: in dbSNP:rs3768067<li>L->V at 192: in dbSNP:rs7524261<li>E->G at 702: in dbSNP:rs1063129<li>S->N at 1017: in dbSNP:rs10465613<li>R->H at 1563: in CHS, MIM: 214500<li>Q->H at 1949: in dbSNP:rs6665568, MIM: 214500<li>V->D at 1999: in CHS: in dbSNP rsrs28942077, MIM: 214500<li>F->Y at 2598: in dbSNP:rs34642241, MIM: 214500<li>G->D at 2804: in dbSNP:rs35333195, MIM: 214500<li>V->I at 2936: in dbSNP:rs2753327, MIM: 214500</ul>							<li>P48405</li><li>P06515</li><li>Q9ZU06</li><li>O22586</li><li>P51075</li><li>P23569</li><li>P17818</li><li>Q9MBB1</li><li>P13114</li><li>O04220</li><li>P48385</li><li>O65872</li><li>P16107</li><li>Q9SEP4</li><li>O22652</li><li>Q9SEP2</li><li>P51089</li><li>P48389</li><li>P26018</li><li>P30079</li><li>Q9ZRS4</li><li>P30078</li><li>Q99698</li><li>P48017</li><li>O04111</li><li>Q9LKP7</li><li>O82144</li><li>P51090</li>	Chediak-Higashi syndrome (CHS) [MIM:214500]	<li>rs34642241</li><li>rs6665568</li><li>rs10465613</li><li>rs1063129</li><li>rs3768067</li><li>rs7524261</li><li>rs2753327</li><li>rs28942077</li><li>rs35333195</li>	2
Q99700	6311	<ul><li>L->V at 107: in dbSNP:rs695871<li>S->N at 248: in dbSNP:rs7969300</ul>									<li>rs7969300</li><li>rs695871</li>	2
Q99705	2847	<ul><li>T->M at 25<li>D->V at 28<li>N->D at 32: no significant functional differences; dbSNP:rs133072<li>G->R at 34: no changes in receptor binding or functional signaling<li>G->R at 103: in dbSNP:rs11914085<li>R->H at 210<li>Y->H at 250<li>T->M at 305<li>R->Q at 317: no evidence of constitutive activation or ligand hypersensitivity: in dbSNP rsrs45439291<li>P->S at 377<li>T->M at 411</ul>			receptor binding	GO:0005102					<li>rs45439291</li><li>rs11914085</li><li>rs133072</li>	2
Q99706		<ul><li>Y->C at 53: in dbSNP:rs618835<li>L->V at 87<li>T->A at 138<li>A->P at 209: in dbSNP:rs1051456<li>D->N at 271<li>H->N at 371</ul>									<li>rs1051456</li><li>rs618835</li>	2
Q99707	4548	<ul><li>R->Q at 52: in dbSNP:rs12749581<li>R->K at 61<li>C->Y at 255<li>Missing  at 881: in cblG<li>D->G at 919: may be associated with susceptibility to folate-sensitive NTD; dbSNP:rs1805087<li>H->D at 920: in cblG: in dbSNP rsrs28933097, MIM: 250940<li>P->L at 1173: in cblG, MIM: 250940</ul>								Methylcobalamin deficiency type G (cblG) [MIM:250940]	<li>rs28933097</li><li>rs12749581</li><li>rs1805087</li>	2
Q99708	5932	<ul><li>K->N at 357: in dbSNP:rs34678569<li>H->Y at 387: in dbSNP:rs1804732</ul>									<li>rs1804732</li><li>rs34678569</li>	2
Q99712	3772	<ul><li>M->L at 30: in dbSNP:rs3746875<li>A->T at 71: in a breast cancer sample; somatic mutation<li>G->D at 98: in dbSNP:rs2230033</ul>									<li>rs3746875</li><li>rs2230033</li>	2
Q99714	3028	<ul><li>L->V at 122: in MHBD deficiency; dbSNP:rs28935476, MIM: 300438<li>R->C at 130: in MHBD deficiency; dbSNP:rs28935475, MIM: 300438<li>N->S at 247: in MHBD deficiency; intermediate enzyme activity, MIM: 300438</ul>								2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	<li>rs28935476</li><li>rs28935475</li>	2
Q99715	1303	<ul><li>A->P at 461: in dbSNP:rs34730529<li>I->T at 1738: in dbSNP:rs240736<li>E->V at 2160: in dbSNP:rs35523808<li>I->V at 2596: in dbSNP:rs35710072<li>G->S at 3058: in dbSNP:rs970547</ul>									<li>rs970547</li><li>rs35523808</li><li>rs35710072</li><li>rs240736</li><li>rs34730529</li>	2
Q99720	10280	<ul><li>Q->P at 2: in dbSNP:rs1800866<li>R->Q at 211</ul>									rs1800866	2
Q99728	580	<ul><li>P->S at 24: common polymorphism in Caucasians; less frequent in Africans; dbSNP:rs1048108<li>K->E at 153: unclassified<li>S->G at 186: in dbSNP:rs16852741<li>S->C at 241: in dbSNP:rs3738885<li>R->S at 378: in dbSNP:rs2229571<li>V->M at 507: unclassified; dbSNP:rs2070094<li>C->S at 557: rare polymorphism in Caucasians; dbSNP:rs28997576<li>Q->H at 564: in ovarian cancer<li>C->R at 645: in dbSNP:rs34744268<li>R->C at 658: rare polymorphism in Caucasians; absent in Africans; dbSNP:rs3738888<li>V->L at 695: in breast and ovarian cancer<li>S->F at 728: in dbSNP:rs13389423<li>S->N at 761: in uterine cancer</ul>									<li>rs3738885</li><li>rs16852741</li><li>rs1048108</li><li>rs3738888</li><li>rs34744268</li><li>rs2229571</li><li>rs13389423</li><li>rs2070094</li><li>rs28997576</li>	2
Q99732	9516	<ul><li>Y->H at 23: in one EMPD primary tumor; somatic mutation<li>T->M at 49: in CMT1C, MIM: 601098<li>I->V at 92: in dbSNP:rs4280262, MIM: 601098<li>G->S at 112: in CMT1C, MIM: 601098<li>T->N at 115: in CMT1C, MIM: 601098<li>W->G at 116: in CMT1C, MIM: 601098<li>L->V at 122: in CMT1C, MIM: 601098</ul>								Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	rs4280262	2
Q99735	4258	<ul><li>A->V at 101: in dbSNP:rs8192111</ul>									rs8192111	2
Q99741	990	<ul><li>T->A at 238: in dbSNP:rs4135010<li>D->N at 295: in dbSNP:rs4135012<li>T->M at 299: in dbSNP:rs4135013<li>R->H at 378: in dbSNP:rs4135016<li>V->I at 441: in dbSNP:rs13706</ul>									<li>rs4135010</li><li>rs4135016</li><li>rs13706</li><li>rs4135012</li><li>rs4135013</li>	2
Q99743	4862	<ul><li>A->T at 394: in dbSNP:rs2305160<li>S->L at 471: susceptibility to seasonal affective disorder : in dbSNP rsrs11541353</ul>									<li>rs11541353</li><li>rs2305160</li>	2
Q99747	8774	<ul><li>P->S at 92: in dbSNP:rs16974765<li>K->N at 281: in dbSNP:rs2305370</ul>									<li>rs2305370</li><li>rs16974765</li>	2
Q99748	4902	<ul><li>A->S at 96: in HSCR; associated to a RET mutation; incomplete penetrance; dbSNP:rs1801281, MIM: 142623</ul>							P07949	Hirschsprung disease (HSCR) [MIM:142623]	rs1801281	2
Q99758	21	<ul><li>L->P at 101: in SMDP3: in dbSNP rsrs28936412, MIM: 610921<li>N->H at 140: in dbSNP:rs45447801, MIM: 610921<li>L->M at 290: in a breast cancer sample; somatic mutation, MIM: 610921<li>N->D at 568: in SMDP3, MIM: 610921<li>P->S at 766: in dbSNP:rs45592239, MIM: 610921<li>E->D at 801: in a breast cancer sample; somatic mutation, MIM: 610921<li>H->Q at 1069: in a breast cancer sample; somatic mutation, MIM: 610921<li>L->P at 1553: in SMDP3, MIM: 610921<li>Q->P at 1591: in SMDP3; dbSNP:rs28936691, MIM: 610921</ul>								Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	<li>rs45592239</li><li>rs28936412</li><li>rs28936691</li><li>rs45447801</li>	2
Q99759	4215	<ul><li>V->M at 281: in dbSNP rsrs36109904<li>A->G at 325: in dbSNP:rs34042309<li>A->G at 435: in dbSNP:rs9910858</ul>									<li>rs34042309</li><li>rs36109904</li><li>rs9910858</li>	2
Q99767	321	<ul><li>L->P at 311: in dbSNP:rs8040932</ul>									rs8040932	2
Q99795	10223	<ul><li>D->N at 20: in dbSNP:rs2274531<li>K->N at 165: in dbSNP:rs16858376</ul>									<li>rs2274531</li><li>rs16858376</li>	2
Q99797	4285	<ul><li>A->V at 137: in dbSNP:rs2312296<li>R->Q at 340: in dbSNP:rs11551114<li>R->H at 453: in dbSNP:rs12858248<li>S->G at 488: in dbSNP:rs7333040</ul>									<li>rs2312296</li><li>rs7333040</li><li>rs11551114</li><li>rs12858248</li>	2
Q99798	50	<ul><li>T->N at 697: in a breast cancer sample; somatic mutation<li>A->S at 768: in dbSNP:rs1804785</ul>									rs1804785	2
Q99801	4824	<ul><li>R->C at 52: in dbSNP rsrs2228013</ul>									rs2228013	2
Q99808	2030	<ul><li>I->T at 216: in dbSNP:rs45573936<li>A->T at 293: in a colorectal cancer sample; somatic mutation<li>E->K at 391: in dbSNP:rs45458701<li>I->V at 455: in a colorectal cancer sample; somatic mutation</ul>									<li>rs45573936</li><li>rs45458701</li>	2
Q99814	2034	<ul><li>G->W at 537: in ECYT4; gain of function; affects hydroxylation, MIM: 611783</ul>								Erythrocytosis familial type 4 (ECYT4) [MIM:611783]		2
Q99816	7251	<ul><li>M->I at 167: in dbSNP:rs34385327</ul>									rs34385327	2
Q99828	10519	<ul><li>S->T at 44: in dbSNP:rs3210935<li>I->T at 106: in dbSNP:rs11551250</ul>									<li>rs3210935</li><li>rs11551250</li>	2
Q99829	8904	<ul><li>Q->R at 211: in dbSNP:rs6579255<li>P->R at 347: in dbSNP:rs12481228<li>P->L at 535: in dbSNP:rs11543239</ul>									<li>rs6579255</li><li>rs11543239</li><li>rs12481228</li>	2
Q99832	10574	<ul><li>T->A at 259: in dbSNP:rs2231427</ul>									rs2231427	2
Q99835	6608	<ul><li>D->H at 473: in dbSNP:rs17710891<li>W->L at 535: in basal cell carcinoma; somatic mutation<li>R->Q at 562: in basal cell carcinoma; somatic mutation</ul>									rs17710891	2
Q99836	4615	<ul><li>L->P at 93: in MYD88D; results in a loss of function, MIM: 612260<li>R->C at 196: in MYD88D; results in a loss of function, MIM: 612260</ul>								MYD88 deficiency (MYD88D) [MIM:612260]		2
Q99848	10969	<ul><li>R->H at 223: in dbSNP:rs7163</ul>									rs7163	2
Q99856	1820	<ul><li>P->H at 36: in dbSNP:rs17857499<li>K->E at 320: in dbSNP:rs17857501<li>G->S at 556: in dbSNP:rs1051505</ul>									<li>rs17857499</li><li>rs17857501</li><li>rs1051505</li>	2
Q99873	3276	<ul><li>K->M at 78: in dbSNP:rs1804486<li>L->F at 158: in dbSNP:rs11673683</ul>									<li>rs11673683</li><li>rs1804486</li>	2
Q99879	8342	<ul><li>H->Y at 110: in a colorectal cancer sample; somatic mutation</ul>										2
Q99880	8340	<ul><li>L->P at 4: in dbSNP:rs200484</ul>									rs200484	2
Q99884	6534	<ul><li>L->V at 345: in dbSNP:rs1468564</ul>									rs1468564	2
Q99895	11330	<ul><li>D->H at 35<li>D->N at 35<li>R->Q at 37: normal secretion and activity<li>Q->R at 48: reduced secretion and activity<li>A->T at 73: reduced secretion; abolishes activity<li>R->W at 80<li>K->E at 172: in dbSNP:rs34949635<li>G->R at 217<li>G->S at 217: reduced secretion and activity<li>G->S at 218<li>L->R at 220<li>E->A at 225<li>V->I at 235: slightly reduced secretion and activity<li>P->L at 249<li>R->W at 254: reduced secretion; normal activity<li>D->N at 260</ul>	secretion	GO:0046903							rs34949635	2
Q99928	2567	<ul><li>T->A at 352: in dbSNP:rs2066712</ul>									rs2066712	2
Q99943	10554	<ul><li>P->S at 30: in dbSNP:rs11964847</ul>									rs11964847	2
Q99944	80864	<ul><li>R->K at 86: in dbSNP:rs3096697<li>A->E at 204: in dbSNP:rs2071289<li>G->C at 277: in dbSNP:rs35587174</ul>									<li>rs2071289</li><li>rs3096697</li><li>rs35587174</li>	2
Q99946	80863	<ul><li>A->T at 94: in a breast cancer sample; somatic mutation</ul>										2
Q99952	26469	<ul><li>M->V at 193: in dbSNP:rs3739124</ul>									rs3739124	2
Q99958	2303	<ul><li>S->L at 125: in LYD, MIM: 153400</ul>								Lymphedema-distichiasis syndrome (LYD) [MIM:153400]		2
Q99959		<ul><li>S->F at 140: in ARVD9, MIM: 609040<li>S->F at 615: in ARVD9, MIM: 609040<li>K->Q at 654: in ARVD9, MIM: 609040<li>C->R at 796: in ARVD9, MIM: 609040</ul>								Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9) [MIM:609040]		2
Q99965	2515	<ul><li>G->W at 10: in dbSNP:rs34800519</ul>									rs34800519	2
Q99966	4435	<ul><li>Q->H at 96: in dbSNP:rs3012627</ul>									rs3012627	2
Q99972	4653	<ul><li>F->S at 4<li>C->S at 9<li>G->R at 12<li>P->L at 16<li>A->S at 17<li>Q->H at 19: in dbSNP:rs2234925<li>C->R at 25: in GLC1A, MIM: 137750<li>Q->H at 48: in GLC1A; also in GLC3A; associated with CYP1B1 mutation H-368, MIM: 137750<li>V->A at 53: in GLC1A, MIM: 137750<li>N->D at 57, MIM: 137750<li>N->S at 57, MIM: 137750<li>N->S at 73, MIM: 137750<li>R->K at 76: in dbSNP:rs2234926, MIM: 137750<li>D->E at 77, MIM: 137750<li>R->C at 82: in GLC1A, MIM: 137750<li>R->H at 82, MIM: 137750<li>L->P at 95, MIM: 137750<li>R->W at 126: in GLC1A, MIM: 137750<li>R->Q at 158: in GLC1A, MIM: 137750<li>R->Q at 189, MIM: 137750<li>S->F at 203, MIM: 137750<li>D->E at 208: in GLC1A; uncertain pothogenicity; dbSNP:rs2234927, MIM: 137750<li>L->P at 215, MIM: 137750<li>G->V at 244: in GLC1A; uncertain pathogenicity, MIM: 137750<li>C->Y at 245: in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly, MIM: 137750<li>G->R at 246: in GLC1A, MIM: 137750<li>V->A at 251: in GLC1A, MIM: 137750<li>G->R at 252: in GLC1A, MIM: 137750<li>E->K at 261: in GLC1A, MIM: 137750<li>R->G at 272: in GLC1A; could be a polymorphism, MIM: 137750<li>P->R at 274: in GLC1A, MIM: 137750<li>W->R at 286: in GLC1A, MIM: 137750<li>T->K at 293: in GLC1A, MIM: 137750<li>E->K at 300: in GLC1A; uncertain pathogenicity, MIM: 137750<li>E->K at 323: in GLC1A, MIM: 137750<li>V->M at 329, MIM: 137750<li>Q->E at 337: in GLC1A, MIM: 137750<li>Q->R at 337: in GLC1A, MIM: 137750<li>S->P at 341: in GLC1A, MIM: 137750<li>R->K at 342: in GLC1A, MIM: 137750<li>I->M at 345: in GLC1A, MIM: 137750<li>E->K at 352: in GLC1A; could be a rare polymorphism, MIM: 137750<li>T->I at 353: in GLC1A; uncertain pathogenicity, MIM: 137750<li>I->N at 360: in GLC1A, MIM: 137750<li>P->S at 361: in GLC1A, MIM: 137750<li>A->T at 363: in GLC1A, MIM: 137750<li>G->V at 364: in GLC1A, MIM: 137750<li>G->R at 367: in GLC1A, MIM: 137750<li>F->L at 369: in GLC1A, MIM: 137750<li>P->L at 370: in GLC1A; severe form, MIM: 137750<li>T->K at 377: in GLC1A, MIM: 137750<li>T->M at 377: in GLC1A, MIM: 137750<li>D->A at 380: in GLC1A; incomplete penetrance, MIM: 137750<li>D->G at 380: in GLC1A, MIM: 137750<li>D->H at 380: in GLC1A, MIM: 137750<li>D->N at 380: in GLC1A, MIM: 137750<li>S->N at 393: in GLC1A, MIM: 137750<li>S->R at 393: in GLC1A, MIM: 137750<li>K->R at 398: could be associated with GLCA1: in dbSNP rsrs56314834, MIM: 137750<li>G->V at 399: in GLC1A; digenic; associated with CYP1B1 mutation H-368: in dbSNP rsrs28936694, MIM: 137750<li>V->I at 402, MIM: 137750<li>E->K at 414, MIM: 137750<li>R->C at 422, MIM: 137750<li>R->H at 422: in GLC1A, MIM: 137750<li>K->E at 423: in GLC1A; heterozygote specific phenotype, MIM: 137750<li>S->P at 425, MIM: 137750<li>V->F at 426: in GLC1A, MIM: 137750<li>A->T at 427: in GLC1A, MIM: 137750<li>C->R at 433: in GLC1A; severe form, MIM: 137750<li>G->S at 434: in GLC1A, MIM: 137750<li>Y->H at 437: in GLC1A, MIM: 137750<li>T->I at 438: in GLC1A, MIM: 137750<li>A->V at 445: in GLC1A, MIM: 137750<li>T->P at 448: in GLC1A, MIM: 137750<li>N->D at 450: in GLC1A, MIM: 137750<li>I->M at 465: in GLC1A, MIM: 137750<li>R->C at 470: in GLC1A, MIM: 137750<li>R->H at 470, MIM: 137750<li>Y->C at 471: in GLC1A; uncertain pathogenicity, MIM: 137750<li>Y->C at 473, MIM: 137750<li>I->N at 477: in GLC1A, MIM: 137750<li>I->S at 477: in GLC1A, MIM: 137750<li>N->K at 480: in GLC1A, MIM: 137750<li>P->L at 481: in GLC1A, MIM: 137750<li>P->T at 481: in GLC1A, MIM: 137750<li>V->I at 495, MIM: 137750<li>I->F at 499: in GLC1A, MIM: 137750<li>I->S at 499: in GLC1A, MIM: 137750<li>K->R at 500, MIM: 137750<li>S->P at 502: in GLC1A, MIM: 137750</ul>							<li>Q99972</li><li>Q16678</li>	Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	<li>rs2234927</li><li>rs56314834</li><li>rs2234925</li><li>rs2234926</li><li>rs28936694</li>	2
Q99973	7011	<ul><li>S->P at 116: in dbSNP:rs1760897<li>T->M at 137: in dbSNP:rs10083536<li>N->K at 307: in dbSNP:rs1760898<li>K->R at 368: in dbSNP:rs2228035<li>K->N at 434: in dbSNP:rs17111188<li>S->L at 510: in dbSNP:rs4982051<li>A->G at 553: in dbSNP:rs2228040<li>R->H at 933: in dbSNP:rs34179031<li>R->C at 1055: in dbSNP:rs1760903<li>R->Q at 1155: in dbSNP:rs2228041<li>S->P at 1195: in dbSNP:rs1760904<li>R->Q at 1351: in dbSNP:rs12886088<li>G->R at 1408: in dbSNP:rs2229100<li>S->T at 1447: in dbSNP:rs1713457<li>C->Y at 1468: in dbSNP:rs1713456<li>R->Q at 1661: in dbSNP:rs34401320<li>R->Q at 1772: in dbSNP:rs8022805<li>V->I at 2214: in dbSNP:rs1713449<li>A->S at 2310: in dbSNP:rs35929175<li>I->M at 2486: in dbSNP:rs938886<li>H->R at 2562: in dbSNP:rs2104978</ul>									<li>rs10083536</li><li>rs34179031</li><li>rs2229100</li><li>rs938886</li><li>rs4982051</li><li>rs1713449</li><li>rs34401320</li><li>rs2104978</li><li>rs2228041</li><li>rs1760897</li><li>rs1760898</li><li>rs2228040</li><li>rs12886088</li><li>rs8022805</li><li>rs1713456</li><li>rs1713457</li><li>rs1760904</li><li>rs35929175</li><li>rs2228035</li><li>rs17111188</li><li>rs1760903</li>	2
Q99983	4958	<ul><li>D->G at 200: in dbSNP:rs34069871<li>E->G at 212: in dbSNP:rs34413259<li>S->N at 221: in dbSNP:rs34860658<li>I->T at 282: in dbSNP:rs35779901<li>C->W at 353: in dbSNP:rs34059114</ul>									<li>rs34069871</li><li>rs34059114</li><li>rs34860658</li><li>rs34413259</li><li>rs35779901</li>	2
Q99985	10512	<ul><li>F->S at 302: in dbSNP:rs35070362<li>V->M at 337: in dbSNP:rs1527482</ul>									<li>rs35070362</li><li>rs1527482</li>	2
Q99988	9518	<ul><li>V->L at 9: in dbSNP:rs1059519<li>T->S at 48: in dbSNP:rs1059369<li>H->D at 202: in dbSNP:rs1058587</ul>									<li>rs1058587</li><li>rs1059369</li><li>rs1059519</li>	2
Q99990	51442	<ul><li>T->I at 59: in dbSNP:rs3027860</ul>									rs3027860	2
Q99996		<ul><li>M->I at 475: in dbSNP:rs6964587<li>K->KQ at 1347<li>S->L at 1582: in LQT11, MIM: 611820<li>M->I at 2421: in a colorectal cancer sample; somatic mutation, MIM: 611820<li>K->R at 2496: in dbSNP:rs35759833, MIM: 611820<li>N->S at 2804: in dbSNP:rs6960867, MIM: 611820<li>P->S at 2983: in dbSNP:rs1063242, MIM: 611820<li>E->Q at 3301: in a breast cancer sample; somatic mutation, MIM: 611820<li>Q->R at 3448: in dbSNP:rs34956633, MIM: 611820<li>M->V at 3618: in dbSNP:rs34327395, MIM: 611820</ul>								Long QT syndrome type 11 (LQT11) [MIM:611820]	<li>rs34956633</li><li>rs1063242</li><li>rs35759833</li><li>rs34327395</li><li>rs6960867</li><li>rs6964587</li>	2
Q99999	9514	<ul><li>V->M at 29: in dbSNP:rs2267161</ul>									rs2267161	2
Q9BPU9	80776	<ul><li>I->M at 11: in dbSNP:rs2241714</ul>									rs2241714	2
Q9BPV8		<ul><li>M->T at 179: in dbSNP:rs1466684</ul>									rs1466684	2
Q9BPW4	80832	<ul><li>I->V at 9: in dbSNP:rs132736<li>V->L at 12: in dbSNP:rs80587<li>M->V at 159: in dbSNP:rs132700</ul>									<li>rs80587</li><li>rs132736</li><li>rs132700</li>	2
Q9BPW8	8508	<ul><li>E->K at 245: in dbSNP:rs1058646</ul>									rs1058646	2
Q9BPW9	10170	<ul><li>D->H at 286: in dbSNP:rs11695788</ul>									rs11695788	2
Q9BPX1	51171	<ul><li>N->D at 31: in dbSNP:rs8110220<li>R->W at 130: in dbSNP:rs35299026</ul>									<li>rs8110220</li><li>rs35299026</li>	2
Q9BPX3	64151	<ul><li>A->P at 64: in dbSNP:rs35722563<li>M->T at 265: in a colorectal cancer sample; somatic mutation<li>M->I at 581: in dbSNP:rs3795243</ul>									<li>rs35722563</li><li>rs3795243</li>	2
Q9BPX7	79020	<ul><li>G->E at 265: in dbSNP:rs3735471</ul>									rs3735471	2
Q9BQ08	84666	<ul><li>P->L at 20: in dbSNP:rs11708527</ul>									rs11708527	2
Q9BQ16	50859	<ul><li>I->V at 112: in dbSNP:rs9685645</ul>									rs9685645	2
Q9BQ31	3790	<ul><li>V->L at 225: in dbSNP:rs17856097<li>A->T at 450: in dbSNP:rs4832524</ul>									<li>rs17856097</li><li>rs4832524</li>	2
Q9BQ50	11219	<ul><li>R->C at 180</ul>										2
Q9BQ51	80380	<ul><li>S->T at 58: in dbSNP:rs12339171<li>F->S at 229: in dbSNP:rs7854303<li>I->T at 241: in dbSNP:rs7854413</ul>									<li>rs7854413</li><li>rs7854303</li><li>rs12339171</li>	2
Q9BQ52	60528	<ul><li>S->F at 52: in dbSNP:rs9895963<li>R->Q at 211: in CaP, MIM: 176807<li>S->L at 217: common polymorphism; CaP susceptibility; risk of CaP increased in Japanese; does not affect the enzymatic activity; dbSNP:rs4792311, MIM: 176807<li>D->N at 436: in dbSNP:rs3760317, MIM: 176807<li>G->R at 487: in CaP, MIM: 176807<li>A->T at 541: common polymorphism; CaP susceptibility; risk of CaP increased in Japanese; does not affect the enzymatic activity; dbSNP:rs34152967, MIM: 176807<li>E->V at 622: in CaP; in a Finnish family; higher frequency in CaP cases, MIM: 176807<li>S->L at 627, MIM: 176807<li>R->H at 781: in CaP; in one family with high frequency of CaP; does not affect the enzymatic activity, MIM: 176807<li>G->R at 806: in CaP, MIM: 176807</ul>								Prostate cancer (CaP) [MIM:176807]	<li>rs9895963</li><li>rs3760317</li><li>rs4792311</li><li>rs34152967</li>	2
Q9BQ65	79650	<ul><li>R->K at 115: in dbSNP:rs35025252<li>Q->E at 250: in dbSNP:rs16959641</ul>									<li>rs35025252</li><li>rs16959641</li>	2
Q9BQ67		<ul><li>R->Q at 319: in dbSNP:rs2302951</ul>									rs2302951	2
Q9BQ75	84319	<ul><li>E->G at 138: in dbSNP:rs11537817<li>V->I at 166: in dbSNP:rs11537816</ul>									<li>rs11537817</li><li>rs11537816</li>	2
Q9BQ95	51295	<ul><li>R->C at 278: in dbSNP:rs34803265<li>G->R at 406: in dbSNP:rs2302971</ul>									<li>rs34803265</li><li>rs2302971</li>	2
Q9BQA1	79084	<ul><li>S->I at 48: in dbSNP:rs7416672</ul>									rs7416672	2
Q9BQA5	25988	<ul><li>P->S at 4: in dbSNP:rs17850972<li>S->C at 78: in dbSNP:rs17850974<li>K->R at 352: in dbSNP:rs34118252<li>V->A at 493: in dbSNP:rs100803</ul>									<li>rs100803</li><li>rs17850974</li><li>rs34118252</li><li>rs17850972</li>	2
Q9BQB6	79001	<ul><li>V->L at 29: in coumarin resistance: in dbSNP rsrs28940302, MIM: 122700<li>V->A at 45: in coumarin resistance: in dbSNP rsrs28940303, MIM: 122700<li>R->G at 58: in coumarin resistance: in dbSNP rsrs28940304, MIM: 122700<li>R->W at 98: in VKCFD2, MIM: 607473<li>L->R at 128: in coumarin resistance: in dbSNP rsrs28940305, MIM: 122700</ul>								<li>Coumarin resistance [MIM:122700]</li><li>Combined eficiency of all vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473]</li>	<li>rs28940303</li><li>rs28940304</li><li>rs28940305</li><li>rs28940302</li>	2
Q9BQD3	79036	<ul><li>P->A at 157: in dbSNP:rs7648</ul>									rs7648	2
Q9BQE5	23780	<ul><li>R->C at 182: in dbSNP:rs7285167<li>I->V at 245: in dbSNP:rs132760</ul>									<li>rs7285167</li><li>rs132760</li>	2
Q9BQF6	57337	<ul><li>K->Q at 79: in dbSNP:rs6809436<li>Q->H at 546: in dbSNP:rs2433031</ul>									<li>rs6809436</li><li>rs2433031</li>	2
Q9BQG0	10514	<ul><li>Q->E at 8: in dbSNP:rs3809849<li>H->Y at 680: in dbSNP:rs899440<li>H->P at 958: in dbSNP:rs879797<li>M->L at 1208: in dbSNP:rs9905742</ul>									<li>rs3809849</li><li>rs879797</li><li>rs9905742</li><li>rs899440</li>	2
Q9BQG1	84258	<ul><li>S->F at 474: in a breast cancer sample; somatic mutation</ul>										2
Q9BQG2	83594	<ul><li>K->E at 129: in dbSNP:rs35903418<li>I->V at 235: in dbSNP:rs34468716</ul>									<li>rs34468716</li><li>rs35903418</li>	2
Q9BQI3	27102	<ul><li>R->T at 117: in dbSNP rsrs34889754<li>K->T at 132: in dbSNP rsrs34851195<li>R->K at 134: in dbSNP rsrs55744865<li>P->S at 139: in dbSNP rsrs55963745<li>R->H at 145: in dbSNP rsrs55971369<li>G->S at 202: in a lung adenocarcinoma sample; somatic mutation<li>F->L at 292: in dbSNP rsrs55982710<li>L->H at 319: in dbSNP:rs34909691<li>K->R at 558: in dbSNP:rs2640</ul>									<li>rs34851195</li><li>rs34909691</li><li>rs55971369</li><li>rs55982710</li><li>rs2640</li><li>rs34889754</li><li>rs55963745</li><li>rs55744865</li>	2
Q9BQI5	84251	<ul><li>E->Q at 112: in dbSNP:rs17490057<li>K->R at 131: in dbSNP:rs7526812<li>P->Q at 161: in dbSNP:rs17855645<li>K->E at 575: in dbSNP:rs17854026</ul>									<li>rs17855645</li><li>rs17854026</li><li>rs17490057</li><li>rs7526812</li>	2
Q9BQI7	84249	<ul><li>R->Q at 31: in dbSNP:rs34880693<li>R->M at 51: in dbSNP:rs3797902<li>R->G at 363: in dbSNP:rs35714177</ul>									<li>rs34880693</li><li>rs35714177</li><li>rs3797902</li>	2
Q9BQK8	64900	<ul><li>Q->H at 679: in dbSNP:rs12625565</ul>									rs12625565	2
Q9BQL6	55612	<ul><li>I->T at 160: in dbSNP:rs16991866<li>R->K at 526: in dbSNP:rs2232074<li>A->T at 534: in dbSNP:rs2232078</ul>									<li>rs2232074</li><li>rs16991866</li><li>rs2232078</li>	2
Q9BQM9	128864	<ul><li>Q->R at 62: in dbSNP:rs7260921</ul>									rs7260921	2
Q9BQN1	128876	<ul><li>E->K at 134: in dbSNP:rs35162625<li>Y->H at 600: in dbSNP:rs35560631<li>R->Q at 621: in dbSNP:rs2425049<li>R->C at 645: in dbSNP:rs35518957</ul>									<li>rs35518957</li><li>rs35162625</li><li>rs2425049</li><li>rs35560631</li>	2
Q9BQP7	92667	<ul><li>S->C at 15: in dbSNP:rs11551768</ul>									rs11551768	2
Q9BQP9	128861	<ul><li>A->E at 41: in dbSNP:rs17124391<li>V->I at 136: in dbSNP:rs3818222</ul>									<li>rs17124391</li><li>rs3818222</li>	2
Q9BQQ3	64689	<ul><li>T->M at 425: in dbSNP:rs1109643</ul>									rs1109643	2
Q9BQS6	94086	<ul><li>Q->P at 2: in dbSNP:rs1122326</ul>									rs1122326	2
Q9BQS7	9843	<ul><li>A->T at 595: in dbSNP:rs17216603</ul>									rs17216603	2
Q9BQS8	79443	<ul><li>Q->R at 250: in dbSNP:rs4683158<li>R->H at 282: in dbSNP:rs9875356<li>G->A at 321: in dbSNP:rs3733100<li>T->M at 381: in dbSNP:rs3733101<li>A->V at 679: in dbSNP:rs3796375<li>N->D at 1001: in dbSNP:rs13059238</ul>									<li>rs9875356</li><li>rs3733101</li><li>rs3733100</li><li>rs13059238</li><li>rs4683158</li><li>rs3796375</li>	2
Q9BQT8	89874	<ul><li>W->C at 299: in dbSNP:rs17104991</ul>									rs17104991	2
Q9BQT9	9746	<ul><li>S->G at 209: in dbSNP:rs7302230<li>H->Y at 874: in a colorectal cancer sample; somatic mutation</ul>									rs7302230	2
Q9BR09	140825	<ul><li>E->K at 211: in dbSNP:rs35342327</ul>									rs35342327	2
Q9BR10	128497	<ul><li>P->L at 94: in dbSNP:rs3827040</ul>									rs3827040	2
Q9BR11	90204	<ul><li>R->Q at 101: in dbSNP:rs3746500</ul>									rs3746500	2
Q9BR26	128506	<ul><li>P->S at 565: in dbSNP:rs847079</ul>									rs847079	2
Q9BR39	57158	<ul><li>A->T at 396: in dbSNP:rs3810510</ul>									rs3810510	2
Q9BR76	57175	<ul><li>V->M at 411: in a colorectal cancer sample; somatic mutation<li>R->L at 476: in dbSNP:rs2286624</ul>									rs2286624	2
Q9BR77	84318	<ul><li>S->R at 25: in dbSNP:rs4980895<li>M->T at 335: in dbSNP:rs735295</ul>									<li>rs4980895</li><li>rs735295</li>	2
Q9BR84	84527	<ul><li>T->N at 251: in dbSNP:rs16979670</ul>									rs16979670	2
Q9BRB3	9091	<ul><li>T->A at 14: in dbSNP:rs2071979<li>C->R at 592: in dbSNP:rs1045277<li>C->R at 668: in dbSNP:rs710924<li>C->Y at 668: in dbSNP:rs710925</ul>									<li>rs710924</li><li>rs1045277</li><li>rs710925</li><li>rs2071979</li>	2
Q9BRD0	84811	<ul><li>R->C at 120: in dbSNP:rs10488698<li>P->L at 148: in dbSNP:rs11820589<li>R->I at 242: in dbSNP:rs11216131<li>S->C at 388: in dbSNP:rs35004487</ul>									<li>rs11820589</li><li>rs10488698</li><li>rs35004487</li><li>rs11216131</li>	2
Q9BRF8	55313	<ul><li>A->D at 19: in dbSNP:rs3748976<li>V->I at 86: in dbSNP:rs3748980<li>R->K at 241: in dbSNP:rs1713480<li>H->P at 290: in dbSNP:rs11645068</ul>									<li>rs1713480</li><li>rs11645068</li><li>rs3748980</li><li>rs3748976</li>	2
Q9BRG1	84313	<ul><li>I->V at 76: in dbSNP:rs34494804</ul>									rs34494804	2
Q9BRG2	10045	<ul><li>N->D at 32: in dbSNP:rs7258236<li>D->G at 223: in dbSNP:rs12608960<li>E->G at 265: in a breast cancer sample; somatic mutation</ul>									<li>rs7258236</li><li>rs12608960</li>	2
Q9BRJ9	55897	<ul><li>A->P at 53: in dbSNP:rs6496598</ul>									rs6496598	2
Q9BRK4	84445	<ul><li>R->H at 121: in a colorectal cancer sample; somatic mutation<li>G->R at 291: in a breast cancer sample; somatic mutation<li>R->W at 299: in dbSNP:rs2275381</ul>									rs2275381	2
Q9BRK5	51150	<ul><li>N->D at 50: in dbSNP:rs12745364<li>A->T at 148: in a colorectal cancer sample; somatic mutation</ul>									rs12745364	2
Q9BRP4	80227	<ul><li>A->V at 53: in dbSNP:rs17850051<li>C->S at 139: in dbSNP:rs2067912<li>A->G at 209: in dbSNP:rs3741138</ul>									<li>rs17850051</li><li>rs3741138</li><li>rs2067912</li>	2
Q9BRP8	84305	<ul><li>E->Q at 66: in dbSNP:rs3802998</ul>									rs3802998	2
Q9BRQ3	84304	<ul><li>G->C at 36: in dbSNP:rs2286612<li>T->R at 129: in dbSNP:rs34448455<li>R->Q at 260: in dbSNP:rs633561<li>P->L at 263: in dbSNP:rs633557</ul>									<li>rs633561</li><li>rs2286612</li><li>rs34448455</li><li>rs633557</li>	2
Q9BRQ6	84303	<ul><li>A->S at 95: in dbSNP:rs2272487</ul>									rs2272487	2
Q9BRQ8	84883	<ul><li>M->T at 135: in dbSNP:rs10999147<li>D->N at 288: in dbSNP:rs2271694</ul>									<li>rs10999147</li><li>rs2271694</li>	2
Q9BRR0	80317	<ul><li>R->T at 3: in dbSNP:rs733743<li>G->V at 33: in dbSNP:rs3857554<li>F->L at 34: in dbSNP:rs3857555<li>V->M at 189: in dbSNP:rs17856167<li>K->E at 200: in dbSNP:rs13201752<li>K->T at 200: in dbSNP:rs13201753<li>H->Q at 246: in dbSNP:rs213227</ul>									<li>rs13201752</li><li>rs13201753</li><li>rs3857554</li><li>rs3857555</li><li>rs733743</li><li>rs213227</li><li>rs17856167</li>	2
Q9BRR8	55094	<ul><li>L->P at 476: in dbSNP:rs2287679<li>L->S at 520: in dbSNP:rs16967805<li>H->R at 724: in dbSNP:rs10416265<li>L->S at 728: in dbSNP:rs10421769<li>E->K at 909: in dbSNP:rs16967824</ul>									<li>rs10416265</li><li>rs10421769</li><li>rs2287679</li><li>rs16967824</li><li>rs16967805</li>	2
Q9BRT8	55871	<ul><li>A->V at 8: in dbSNP:rs16925054</ul>									rs16925054	2
Q9BRU9	84294	<ul><li>H->R at 170: in dbSNP:rs16888722<li>K->Q at 195: in dbSNP:rs1133950<li>P->L at 215: in dbSNP:rs16888728</ul>									<li>rs16888728</li><li>rs1133950</li><li>rs16888722</li>	2
Q9BRX2	53918	<ul><li>M->L at 221: in dbSNP:rs1499280</ul>									rs1499280	2
Q9BRX9	84292	<ul><li>G->S at 278: in dbSNP:rs34373915<li>R->Q at 304: in dbSNP:rs35092999</ul>									<li>rs35092999</li><li>rs34373915</li>	2
Q9BRY0	29985	<ul><li>F->L at 100: in dbSNP:rs11539244<li>P->L at 257: in dbSNP:rs35594294</ul>									<li>rs11539244</li><li>rs35594294</li>	2
Q9BS31	65251	<ul><li>G->D at 352: in dbSNP:rs6509593<li>A->T at 469: in dbSNP:rs1433083</ul>									<li>rs1433083</li><li>rs6509593</li>	2
Q9BS40	56925	<ul><li>H->R at 53: in dbSNP:rs8455</ul>									rs8455	2
Q9BS91	55032	<ul><li>N->I at 247: in dbSNP:rs17849939</ul>									rs17849939	2
Q9BS92	55335	<ul><li>A->P at 94: in dbSNP:rs10761084<li>K->E at 154: in dbSNP:rs3739740<li>A->G at 159: in dbSNP:rs3739741</ul>									<li>rs3739740</li><li>rs3739741</li><li>rs10761084</li>	2
Q9BSA4	94015	<ul><li>P->H at 11: in dbSNP:rs11538875<li>H->D at 85: in dbSNP:rs11538876<li>T->A at 262: in dbSNP:rs35682745<li>A->S at 265: in dbSNP:rs35999669<li>T->I at 419: in dbSNP:rs12600564<li>D->E at 423: in dbSNP:rs9899862</ul>									<li>rs9899862</li><li>rs35999669</li><li>rs12600564</li><li>rs35682745</li><li>rs11538875</li><li>rs11538876</li>	2
Q9BSA9	84286	<ul><li>Q->P at 65: in dbSNP:rs34884217<li>M->T at 393: in dbSNP:rs34311866</ul>									<li>rs34884217</li><li>rs34311866</li>	2
Q9BSD7	84284	<ul><li>G->E at 106: in dbSNP:rs12123482</ul>									rs12123482	2
Q9BSE2	84283	<ul><li>V->M at 147: in dbSNP:rs6684514</ul>									rs6684514	2
Q9BSE4		<ul><li>T->A at 108: in dbSNP:rs3779234<li>H->L at 200: in dbSNP:rs2305335</ul>									<li>rs2305335</li><li>rs3779234</li>	2
Q9BSE5	79814	<ul><li>G->R at 105: in dbSNP:rs6429757<li>R->Q at 140: in dbSNP:rs11580170</ul>									<li>rs11580170</li><li>rs6429757</li>	2
Q9BSF0	84281	<ul><li>T->I at 56: in dbSNP:rs6753459</ul>									rs6753459	2
Q9BSF8	84280	<ul><li>T->A at 145: in dbSNP:rs34185489</ul>									rs34185489	2
Q9BSG5	83546	<ul><li>G->A at 198: in dbSNP:rs13628</ul>									rs13628	2
Q9BSH4	51204	<ul><li>G->S at 145: in dbSNP:rs35252424</ul>									rs35252424	2
Q9BSH5	81932	<ul><li>G->E at 146: in dbSNP:rs1043836</ul>									rs1043836	2
Q9BSI4	26277	<ul><li>A->T at 43: in dbSNP:rs35653076<li>G->D at 237: in dbSNP:rs17102313<li>P->S at 241: in dbSNP:rs17102311<li>K->E at 280: in ADDKC, MIM: 127550<li>R->H at 282: in ADDKC and ERBMF, MIM: 268130<li>R->S at 282: in ADDKC, MIM: 127550</ul>								<li>Retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]</li><li>Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]</li>	<li>rs35653076</li><li>rs17102313</li><li>rs17102311</li>	2
Q9BSJ2	10844	<ul><li>A->T at 111: in dbSNP:rs2298121<li>I->T at 193: in dbSNP:rs11101682<li>A->T at 809: in dbSNP:rs11101677</ul>									<li>rs11101677</li><li>rs2298121</li><li>rs11101682</li>	2
Q9BSJ5	55028	<ul><li>G->S at 226: in dbSNP:rs9902726<li>K->Q at 322: in dbSNP:rs34784472<li>F->L at 356: in dbSNP:rs745143<li>N->H at 395: in dbSNP:rs904384<li>C->R at 396: in dbSNP:rs904383<li>Q->H at 420: in dbSNP:rs745142<li>A->T at 522: in dbSNP:rs1566286</ul>									<li>rs904383</li><li>rs745143</li><li>rs745142</li><li>rs904384</li><li>rs1566286</li><li>rs34784472</li><li>rs9902726</li>	2
Q9BSJ8	23344	<ul><li>R->C at 764: in dbSNP:rs35075600</ul>									rs35075600	2
Q9BSK1		<ul><li>A->V at 77: in dbSNP:rs17856123<li>R->C at 116: in dbSNP:rs17849895<li>R->K at 227: in dbSNP:rs9807847<li>K->E at 239: in dbSNP:rs2288868<li>R->C at 339: in dbSNP:rs9807842<li>R->S at 350: in dbSNP:rs9807853<li>E->K at 366: in dbSNP:rs10407547<li>T->I at 368: in dbSNP:rs10407911</ul>									<li>rs9807853</li><li>rs17856123</li><li>rs9807842</li><li>rs2288868</li><li>rs9807847</li><li>rs10407547</li><li>rs17849895</li><li>rs10407911</li>	2
Q9BSK2	84275	<ul><li>L->I at 242: in dbSNP:rs35819756</ul>									rs35819756	2
Q9BSK4	55527	<ul><li>H->Y at 500: may to be associated with polycystic ovary syndrome </ul>										2
Q9BSL1	10422	<ul><li>E->D at 374: in dbSNP:rs11103231</ul>									rs11103231	2
Q9BSN7	79652	<ul><li>G->A at 57: in dbSNP:rs1057612</ul>									rs1057612	2
Q9BSQ5	83605	<ul><li>V->I at 53: in dbSNP:rs2107732<li>V->I at 120: in dbSNP:rs11552377<li>L->R at 198: in CCM2, MIM: 603284<li>S->N at 289: in dbSNP:rs2289366, MIM: 603284</ul>							Q9BSQ5	Cerebral cavernous malformations type 2 (CCM2) [MIM:603284]	<li>rs2289366</li><li>rs11552377</li><li>rs2107732</li>	2
Q9BSU3	84779	<ul><li>A->T at 6: in dbSNP:rs3811765<li>L->F at 19: in dbSNP:rs17003712</ul>									<li>rs17003712</li><li>rs3811765</li>	2
Q9BSW2	84766	<ul><li>R->G at 7: in dbSNP:rs9788233<li>A->T at 98: in dbSNP:rs17836273<li>A->V at 128: in dbSNP:rs242017<li>H->P at 136: in dbSNP:rs34088152<li>E->K at 154: in dbSNP:rs242018<li>H->Q at 212: in dbSNP:rs36030417</ul>									<li>rs36030417</li><li>rs17836273</li><li>rs242017</li><li>rs242018</li><li>rs9788233</li><li>rs34088152</li>	2
Q9BT04	80199	<ul><li>A->S at 34: in dbSNP:rs35138412<li>G->D at 175: in dbSNP:rs35002951<li>T->I at 400: in dbSNP:rs12610577</ul>									<li>rs35138412</li><li>rs12610577</li><li>rs35002951</li>	2
Q9BT09	10695	<ul><li>M->I at 145: in dbSNP:rs1063252<li>S->I at 231: in dbSNP:rs9471969</ul>									<li>rs9471969</li><li>rs1063252</li>	2
Q9BT22	56052	<ul><li>S->R at 150: in CDG1K; impairs activity, MIM: 608540<li>S->L at 258: in CDG1K; impairs activity: in dbSNP rsrs28939378, MIM: 608540<li>S->N at 267: in dbSNP:rs17849848, MIM: 608540<li>L->M at 325: in dbSNP:rs17852920, MIM: 608540<li>Q->P at 342: in CDG1K; impairs activity, MIM: 608540<li>D->E at 429: no effect on activity; dbSNP:rs9745522, MIM: 608540<li>R->W at 438: in dbSNP:rs16835020, MIM: 608540<li>Q->R at 455: in dbSNP:rs17856919, MIM: 608540</ul>								Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	<li>rs17856919</li><li>rs16835020</li><li>rs9745522</li><li>rs17852920</li><li>rs17849848</li><li>rs28939378</li>	2
Q9BT25	93323	<ul><li>G->R at 83: in dbSNP:rs1130222</ul>									rs1130222	2
Q9BT30	84266	<ul><li>R->Q at 191: in dbSNP:rs7540</ul>									rs7540	2
Q9BT40	51763	<ul><li>S->F at 315: in a breast cancer sample; somatic mutation</ul>										2
Q9BT51		<ul><li>L->V at 11: in dbSNP:rs2838770</ul>									rs2838770	2
Q9BT76	80761	<ul><li>Q->R at 293: in dbSNP:rs1636632<li>W->R at 319: in dbSNP:rs1799126</ul>									<li>rs1799126</li><li>rs1636632</li>	2
Q9BT88	23208	<ul><li>Q->H at 48: in dbSNP:rs822522<li>G->V at 231: in dbSNP:rs17853892</ul>									<li>rs17853892</li><li>rs822522</li>	2
Q9BT92	84260	<ul><li>K->R at 127: in dbSNP:rs10774978<li>E->K at 417: in dbSNP:rs16940680</ul>									<li>rs10774978</li><li>rs16940680</li>	2
Q9BTA9	51322	<ul><li>S->R at 242: in dbSNP:rs11595926<li>T->A at 309: in dbSNP:rs2232791<li>S->L at 475: in a colorectal cancer sample; somatic mutation<li>T->S at 531: in dbSNP:rs7127</ul>									<li>rs7127</li><li>rs2232791</li><li>rs11595926</li>	2
Q9BTC0	11083	<ul><li>P->L at 13: in dbSNP:rs6090161<li>P->L at 276: in dbSNP:rs6090160</ul>									<li>rs6090161</li><li>rs6090160</li>	2
Q9BTE0	26151	<ul><li>C->R at 56: in dbSNP:rs2305213</ul>									rs2305213	2
Q9BTN0	79414	<ul><li>A->V at 14: in dbSNP:rs34933126</ul>									rs34933126	2
Q9BTP7	91442	<ul><li>S->F at 126: in dbSNP:rs36017455<li>S->L at 158: in dbSNP:rs2304103<li>I->T at 192: in dbSNP:rs3816032</ul>									<li>rs2304103</li><li>rs36017455</li><li>rs3816032</li>	2
Q9BTT6	55227	<ul><li>I->V at 193: in dbSNP:rs9349688</ul>									rs9349688	2
Q9BTV4	79188	<ul><li>K->N at 168: in dbSNP:rs4685076<li>M->T at 179: in dbSNP:rs2340917<li>Y->C at 233: in dbSNP:rs35924492<li>A->V at 318: in dbSNP:rs11924644<li>S->L at 358: in ARVD5, MIM: 604400</ul>								Familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5) [MIM:604400]	<li>rs2340917</li><li>rs35924492</li><li>rs4685076</li><li>rs11924644</li>	2
Q9BTV5	79187	<ul><li>L->V at 232: in dbSNP:rs35139245</ul>									rs35139245	2
Q9BTV6	92715	<ul><li>G->R at 158: in dbSNP:rs821314</ul>									rs821314	2
Q9BTV7	81928	<ul><li>T->K at 428: in dbSNP:rs6089219</ul>									rs6089219	2
Q9BTX1	55706	<ul><li>G->D at 154: in dbSNP:rs17849721</ul>									rs17849721	2
Q9BTX3	29100	<ul><li>D->Y at 82: in dbSNP:rs17851038<li>L->P at 102: in dbSNP:rs11553801</ul>									<li>rs11553801</li><li>rs17851038</li>	2
Q9BTY2	2519	<ul><li>V->M at 356: in dbSNP:rs3762002<li>Y->H at 371: in dbSNP:rs3762001</ul>									<li>rs3762002</li><li>rs3762001</li>	2
Q9BU19	55657	<ul><li>P->R at 230: in dbSNP:rs13313088</ul>									rs13313088	2
Q9BU20	79363	<ul><li>E->G at 86: in dbSNP:rs17849687</ul>									rs17849687	2
Q9BU23	91289	<ul><li>P->L at 68: in a breast cancer sample; somatic mutation<li>T->M at 479: in dbSNP:rs8136495</ul>									rs8136495	2
Q9BU64	79172	<ul><li>Q->R at 34: in dbSNP:rs1550116</ul>									rs1550116	2
Q9BU70	51531	<ul><li>S->P at 7: in dbSNP:rs3183927<li>V->A at 252: in dbSNP:rs35606344<li>V->M at 324: in dbSNP:rs2282192</ul>									<li>rs2282192</li><li>rs3183927</li><li>rs35606344</li>	2
Q9BUA6	93408	<ul><li>M->T at 46: in dbSNP:rs12216595</ul>									rs12216595	2
Q9BUB4	23536	<ul><li>H->N at 167: in dbSNP:rs3743598<li>T->N at 203: in dbSNP:rs3743599</ul>									<li>rs3743599</li><li>rs3743598</li>	2
Q9BUB5	8569	<ul><li>K->Q at 49: in dbSNP rsrs56351860<li>L->V at 158: in dbSNP rsrs56408722<li>D->N at 308: in dbSNP rsrs55791614<li>R->Q at 446: in dbSNP rsrs34881418</ul>									<li>rs34881418</li><li>rs56351860</li><li>rs55791614</li><li>rs56408722</li>	2
Q9BUB7	54968	<ul><li>A->P at 34: in dbSNP:rs8075<li>N->K at 228: in dbSNP:rs35564486<li>T->A at 250: in dbSNP:rs1053079<li>D->E at 259: in dbSNP:rs1053077</ul>									<li>rs8075</li><li>rs35564486</li><li>rs1053079</li><li>rs1053077</li>	2
Q9BUD6	10417	<ul><li>R->G at 38: in dbSNP:rs6836335<li>P->L at 40: in dbSNP:rs922697<li>E->A at 122: in dbSNP:rs11247975<li>V->L at 242: in dbSNP:rs2279279</ul>									<li>rs2279279</li><li>rs11247975</li><li>rs6836335</li><li>rs922697</li>	2
Q9BUG6	79149	<ul><li>E->Q at 146: in a colorectal cancer sample; somatic mutation<li>G->V at 337: in dbSNP:rs34187696</ul>									rs34187696	2
Q9BUI4	10623	<ul><li>H->R at 243: in dbSNP:rs1044697</ul>									rs1044697	2
Q9BUJ0	25864	<ul><li>R->Q at 32: in dbSNP:rs17849626<li>C->W at 61: in dbSNP:rs404527</ul>									<li>rs17849626</li><li>rs404527</li>	2
Q9BUJ2	11100	<ul><li>G->C at 91: in dbSNP:rs17849624</ul>									rs17849624	2
Q9BUK6	55154	<ul><li>T->I at 324: in dbSNP:rs622288</ul>									rs622288	2
Q9BUL8	11235	<ul><li>D->A at 102: in dbSNP:rs1129087</ul>									rs1129087	2
Q9BUM1	92579	<ul><li>L->P at 185: in SCN4<li>T->I at 216: in dbSNP:rs34406052<li>R->H at 253: in SCN4; the mutant protein has no phosphatase activity in vitro; electron microscopic studies show enlarged rough endoplasmic reticulum consistent with increased stress<li>G->R at 262: in SCN4</ul>					rough endoplasmic reticulum	GO:0005791	<li>Q5X1E5</li><li>Q7M7K5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q88A53</li><li>Q5P3T0</li><li>Q7MBF4</li><li>Q8Z3M9</li><li>Q5PC82</li><li>Q5ZRX9</li><li>Q821A6</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8P5D4</li><li>Q8CWL6</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q9L7A3</li><li>Q88QU2</li><li>Q6D160</li><li>Q8ZI64</li><li>Q60CQ4</li><li>Q87DS9</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		rs34406052	2
Q9BUN8	79139	<ul><li>I->V at 171: in dbSNP:rs2272722</ul>									rs2272722	2
Q9BUP0	80303	<ul><li>K->R at 186: in dbSNP:rs11550699</ul>									rs11550699	2
Q9BUP3	10553	<ul><li>R->S at 106: in hepatocellular carcinoma<li>D->Y at 108: in hepatocellular carcinoma<li>A->T at 116: in hepatocellular carcinoma<li>G->V at 134: in hepatocellular carcinoma; reduces protein stability<li>L->I at 144: in hepatocellular carcinoma<li>R->S at 197: in dbSNP:rs3824886</ul>									rs3824886	2
Q9BUR4	55135	<ul><li>P->S at 11: in dbSNP:rs17880282<li>R->G at 68: in dbSNP:rs2287499<li>A->G at 522: in dbSNP:rs7640</ul>									<li>rs2287499</li><li>rs7640</li><li>rs17880282</li>	2
Q9BUT1	56898	<ul><li>N->S at 70: in dbSNP:rs1054707</ul>									rs1054707	2
Q9BUU2	79091	<ul><li>W->S at 59: in dbSNP:rs2270286<li>A->T at 219: in dbSNP:rs2302607</ul>									<li>rs2270286</li><li>rs2302607</li>	2
Q9BUV0	57035	<ul><li>Y->H at 147: in dbSNP:rs34619962<li>E->G at 239: in dbSNP:rs1043879</ul>									<li>rs1043879</li><li>rs34619962</li>	2
Q9BUY5	79088	<ul><li>A->V at 4: in dbSNP:rs2042200<li>T->A at 219: in dbSNP:rs10420644</ul>									<li>rs2042200</li><li>rs10420644</li>	2
Q9BUY7	90141	<ul><li>A->V at 15: in dbSNP:rs35435801<li>D->G at 31: in dbSNP:rs34486581<li>T->A at 45: in dbSNP:rs34911716</ul>									<li>rs34911716</li><li>rs35435801</li><li>rs34486581</li>	2
Q9BUZ4	9618	<ul><li>A->T at 173: in dbSNP rsrs35932778<li>R->G at 178: in dbSNP:rs1044066</ul>									<li>rs35932778</li><li>rs1044066</li>	2
Q9BV10	79087	<ul><li>T->M at 67: in CDG1G, MIM: 607143<li>G->R at 101: in CDG1G, MIM: 607143<li>F->V at 142: in CDG1G; dbSNP:rs28942090, MIM: 607143<li>R->Q at 146: in CDG1G, MIM: 607143<li>L->P at 158: in CDG1G, MIM: 607143<li>I->V at 393: in dbSNP:rs3922872, MIM: 607143</ul>								Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]	<li>rs3922872</li><li>rs28942090</li>	2
Q9BV29	90416	<ul><li>K->I at 2: in dbSNP:rs10152546</ul>									rs10152546	2
Q9BV36	79083	<ul><li>R->W at 35: in GS3; abolishes RAB27A binding, MIM: 609227<li>R->W at 139: in dbSNP:rs2292880, MIM: 609227<li>L->P at 153: in dbSNP:rs3751109, MIM: 609227<li>D->N at 163: in dbSNP:rs3751108, MIM: 609227<li>G->D at 172: in dbSNP:rs3751107, MIM: 609227<li>T->I at 289: in dbSNP:rs11883500, MIM: 609227<li>H->R at 347: in dbSNP:rs2292884, MIM: 609227<li>V->A at 374: in dbSNP:rs3817362, MIM: 609227</ul>			binding	GO:0005488			<li>Q4LE85</li><li>Q1HE58</li><li>P51159</li>	Griscelli syndrome type-3 (GS3) [MIM:609227]	<li>rs3751109</li><li>rs3817362</li><li>rs3751108</li><li>rs2292880</li><li>rs11883500</li><li>rs2292884</li><li>rs3751107</li>	2
Q9BV38	57418	<ul><li>A->T at 172: in dbSNP:rs2158367<li>L->F at 213: in dbSNP:rs35068100<li>V->I at 264: in dbSNP:rs11538683</ul>									<li>rs35068100</li><li>rs2158367</li><li>rs11538683</li>	2
Q9BV44	25917	<ul><li>R->Q at 459: in dbSNP:rs1129174</ul>									rs1129174	2
Q9BV73	11190	<ul><li>Q->H at 995: in dbSNP:rs2296403<li>Q->E at 1072: in dbSNP:rs17092706<li>R->Q at 1441: in dbSNP:rs3748433</ul>									<li>rs17092706</li><li>rs2296403</li><li>rs3748433</li>	2
Q9BV79		<ul><li>L->F at 96: in dbSNP:rs1128400</ul>									rs1128400	2
Q9BV87	27013	<ul><li>T->I at 262: in dbSNP:rs1043160<li>P->L at 292: in dbSNP:rs1127102<li>P->L at 366: in dbSNP:rs17655123<li>P->L at 383: in dbSNP:rs4674361</ul>									<li>rs4674361</li><li>rs17655123</li><li>rs1043160</li><li>rs1127102</li>	2
Q9BV94	55741	<ul><li>A->T at 456: in dbSNP rsrs3746429</ul>									rs3746429	2
Q9BV99	65999	<ul><li>N->S at 143: in dbSNP:rs3735169</ul>									rs3735169	2
Q9BVC3	79075	<ul><li>H->R at 376: in dbSNP:rs1055130</ul>									rs1055130	2
Q9BVC5	79074	<ul><li>G->D at 185: in dbSNP:rs28930676</ul>									rs28930676	2
Q9BVG8	3801	<ul><li>G->V at 391: in dbSNP:rs17854089</ul>									rs17854089	2
Q9BVI0	51230	<ul><li>V->M at 605: in dbSNP:rs17431878</ul>									rs17431878	2
Q9BVJ6	10813	<ul><li>V->A at 487: in dbSNP:rs2281278</ul>									rs2281278	2
Q9BVJ7	54935	<ul><li>E->V at 124: in dbSNP:rs11544443<li>G->S at 131: in dbSNP:rs1129923</ul>									<li>rs1129923</li><li>rs11544443</li>	2
Q9BVK2	79053	<ul><li>T->P at 47: in CDG1H, MIM: 608104<li>N->S at 222: in dbSNP:rs665278, MIM: 608104<li>G->D at 275: in CDG1H, MIM: 608104<li>I->T at 439: in dbSNP:rs17825668, MIM: 608104</ul>								Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]	<li>rs17825668</li><li>rs665278</li>	2
Q9BVK8	10430	<ul><li>Y->H at 132: in dbSNP:rs1269215</ul>									rs1269215	2
Q9BVL2	9818	<ul><li>A->T at 34: in dbSNP:rs12871898<li>S->P at 166: in dbSNP:rs12871608</ul>									<li>rs12871608</li><li>rs12871898</li>	2
Q9BVM2	25911	<ul><li>S->R at 56<li>L->S at 156: in dbSNP:rs7006</ul>									rs7006	2
Q9BVN2	23623	<ul><li>S->F at 362: in dbSNP:rs12061020<li>V->A at 493: in dbSNP:rs35826120</ul>									<li>rs35826120</li><li>rs12061020</li>	2
Q9BVP2	26354	<ul><li>R->Q at 39: in dbSNP:rs11177<li>V->M at 367: in dbSNP:rs2289247</ul>									<li>rs11177</li><li>rs2289247</li>	2
Q9BVQ7	79029	<ul><li>R->P at 119: in dbSNP:rs1153850<li>N->D at 592: in dbSNP:rs16943025</ul>									<li>rs1153850</li><li>rs16943025</li>	2
Q9BVR0		<ul><li>L->P at 759: in dbSNP:rs17134681<li>R->I at 1119: in dbSNP:rs4931826</ul>									<li>rs4931826</li><li>rs17134681</li>	2
Q9BVS4	55781	<ul><li>S->C at 96: in dbSNP rsrs2544773<li>H->R at 144: in dbSNP rsrs35165987<li>H->Y at 144: in dbSNP:rs17849382<li>R->H at 155: in dbSNP rsrs34916955<li>V->I at 175: in dbSNP rsrs35713904<li>I->T at 216: in a renal clear cell carcinoma sample; somatic mutation<li>M->V at 244: in dbSNP rsrs33996030<li>G->R at 349: in dbSNP:rs160632<li>N->S at 397: in dbSNP:rs12188395<li>E->D at 409: in dbSNP rsrs35829000<li>R->H at 507: in dbSNP rsrs34555783</ul>									<li>rs12188395</li><li>rs35829000</li><li>rs33996030</li><li>rs34555783</li><li>rs160632</li><li>rs35165987</li><li>rs2544773</li><li>rs17849382</li><li>rs35713904</li><li>rs34916955</li>	2
Q9BVV7	29090	<ul><li>G->S at 79: in dbSNP:rs3737512</ul>									rs3737512	2
Q9BVW5	54962	<ul><li>P->R at 53: in dbSNP:rs9806123<li>A->G at 111: in dbSNP:rs2063690<li>L->P at 260: in dbSNP:rs3759787<li>A->S at 267: in dbSNP:rs3759786<li>N->S at 270</ul>									<li>rs3759786</li><li>rs2063690</li><li>rs3759787</li><li>rs9806123</li>	2
Q9BVX2	79022	<ul><li>V->F at 103: in dbSNP:rs35000511<li>S->F at 175: in dbSNP:rs2286025</ul>									<li>rs2286025</li><li>rs35000511</li>	2
Q9BW04	79098	<ul><li>P->S at 87: in dbSNP:rs706846<li>T->A at 107: in dbSNP:rs35299018<li>N->T at 157: in dbSNP:rs34660159<li>R->G at 258: in dbSNP:rs12062114<li>N->S at 434: in dbSNP:rs35267170<li>P->S at 444: in dbSNP:rs2842726<li>F->S at 514: in dbSNP:rs11799966</ul>									<li>rs35267170</li><li>rs11799966</li><li>rs34660159</li><li>rs706846</li><li>rs35299018</li><li>rs12062114</li><li>rs2842726</li>	2
Q9BW11	83463	<ul><li>Q->H at 114: in dbSNP:rs35691394</ul>									rs35691394	2
Q9BW19	3833	<ul><li>R->Q at 219</ul>										2
Q9BW66	51550	<ul><li>R->H at 164: in dbSNP:rs7011<li>D->N at 177: in a colorectal cancer sample; somatic mutation</ul>									rs7011	2
Q9BW71	8479	<ul><li>A->V at 496: in dbSNP:rs35431046<li>G->W at 521: in dbSNP:rs11643314</ul>									<li>rs11643314</li><li>rs35431046</li>	2
Q9BWD1	39	<ul><li>K->R at 211: in dbSNP:rs25683</ul>									rs25683	2
Q9BWE0	29803	<ul><li>L->P at 14: in dbSNP:rs3735165<li>G->R at 49: in dbSNP:rs35090619<li>P->S at 88: in dbSNP:rs11553624<li>R->H at 92: in dbSNP:rs17173702<li>A->V at 97: in dbSNP:rs17173703</ul>									<li>rs35090619</li><li>rs3735165</li><li>rs17173702</li><li>rs17173703</li><li>rs11553624</li>	2
Q9BWH6	26015	<ul><li>R->Q at 525: in a colorectal cancer sample; somatic mutation</ul>										2
Q9BWK5	78996	<ul><li>P->L at 82: in a colorectal cancer sample; somatic mutation</ul>										2
Q9BWN1	78994	<ul><li>P->L at 359: in dbSNP:rs3747481</ul>									rs3747481	2
Q9BWP8	78989	<ul><li>H->R at 219: in dbSNP:rs7567833</ul>									rs7567833	2
Q9BWS9	66005	<ul><li>R->Q at 331: in dbSNP:rs1127800<li>A->V at 338: in dbSNP:rs6682</ul>									<li>rs6682</li><li>rs1127800</li>	2
Q9BWT7	29775	<ul><li>R->Q at 289: in dbSNP:rs9610775</ul>									rs9610775	2
Q9BWU0	22950	<ul><li>P->T at 139: in dbSNP:rs9678851<li>R->C at 181: in dbSNP:rs9679004</ul>									<li>rs9678851</li><li>rs9679004</li>	2
Q9BWV1	91653	<ul><li>V->M at 713: in a breast cancer sample; somatic mutation<li>K->N at 883: in dbSNP:rs35536878<li>Q->H at 915: in dbSNP:rs3814405</ul>									<li>rs3814405</li><li>rs35536878</li>	2
Q9BWV2	83890	<ul><li>K->E at 209: in dbSNP:rs34297786</ul>									rs34297786	2
Q9BWV7		<ul><li>G->R at 3: in dbSNP:rs12526094<li>T->A at 127: in dbSNP:rs11540664<li>L->P at 202: in dbSNP:rs6936639<li>G->R at 425: in dbSNP:rs909545<li>G->S at 445: in dbSNP:rs9457304<li>Q->H at 529: in dbSNP:rs12528714</ul>									<li>rs12528714</li><li>rs9457304</li><li>rs909545</li><li>rs12526094</li><li>rs6936639</li><li>rs11540664</li>	2
Q9BWW7	83482	<ul><li>S->A at 133: in dbSNP:rs7013127</ul>									rs7013127	2
Q9BWW8	80830	<ul><li>N->K at 173: in dbSNP:rs5999923</ul>									rs5999923	2
Q9BWW9	80831	<ul><li>E->K at 37: in dbSNP:rs5999985<li>E->K at 81: in dbSNP:rs5999985<li>T->M at 272: in dbSNP:rs2076671<li>T->M at 323: in dbSNP:rs2076672<li>S->C at 406: in dbSNP:rs2076673</ul>									<li>rs5999985</li><li>rs2076671</li><li>rs2076672</li><li>rs2076673</li>	2
Q9BWX1	51533	<ul><li>K->N at 369: in a breast cancer sample; somatic mutation</ul>										2
Q9BX26	10388	<ul><li>T->K at 353: in dbSNP:rs13039338<li>P->L at 523: in dbSNP:rs1359836<li>T->I at 751: in dbSNP:rs6071006<li>V->A at 1155: in dbSNP:rs6128714</ul>									<li>rs6071006</li><li>rs1359836</li><li>rs6128714</li><li>rs13039338</li>	2
Q9BX59	55080	<ul><li>G->R at 151: in dbSNP:rs7295376</ul>									rs7295376	2
Q9BX63	83990	<ul><li>P->A at 47: in BC; early onset; loss of ATPase and helicase activities; dbSNP:rs28903098, MIM: 114480<li>R->C at 173: in dbSNP:rs4988345, MIM: 114480<li>V->I at 193: in dbSNP:rs4988346, MIM: 114480<li>L->P at 195: in dbSNP:rs4988347, MIM: 114480<li>Q->H at 255: in FANCJ, MIM: 609054<li>R->W at 264: rare polymorphism; dbSNP:rs28997569, MIM: 609054<li>M->I at 299: in BC; early onset; reduces helicase efficiency on longer substrates, MIM: 114480<li>A->P at 349: in FANCJ, MIM: 609054<li>R->W at 419, MIM: 609054<li>F->V at 531: in dbSNP:rs4988350, MIM: 609054<li>Q->L at 540: in dbSNP:rs4988349, MIM: 609054<li>I->M at 633: in dbSNP:rs28997572, MIM: 609054<li>W->C at 647: in FANCJ; associated with C-707, MIM: 609054<li>R->C at 707: in FANCJ; associated with C-647, MIM: 609054<li>C->Y at 832: in dbSNP:rs4988355, MIM: 609054<li>P->S at 919: very frequent polymorphism; dbSNP:rs4986764, MIM: 609054<li>V->G at 935: in dbSNP:rs4988356, MIM: 609054<li>P->L at 1034: in a patient with ovarian cancer; unknown pathological significance, MIM: 609054<li>D->E at 1148: in dbSNP:rs28997573, MIM: 609054</ul>							<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q9WJB2</li><li>Q3I5J6</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P22168</li><li>P19751</li><li>Q8V6W7</li><li>Q3YK19</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>Q8V439</li><li>P17965</li><li>Q9BX63</li><li>Q91QT2</li><li>Q04561</li><li>Q97ZZ8</li><li>P27411</li><li>P27410</li><li>P27920</li><li>P22591</li><li>Q9PYA3</li><li>P20951</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>	<li>Breast cancer (BC) [MIM:114480]</li><li>Fanconi anemia complementation group J (FANCJ) [MIM:609054, 227650]</li>	<li>rs4988349</li><li>rs28997569</li><li>rs4988347</li><li>rs4986764</li><li>rs4988355</li><li>rs28997573</li><li>rs4988356</li><li>rs28997572</li><li>rs4988350</li><li>rs4988345</li><li>rs4988346</li><li>rs28903098</li>	2
Q9BX66	10580	<ul><li>P->L at 61: in dbSNP:rs943542<li>R->W at 74<li>G->V at 175: in dbSNP:rs7081076<li>T->A at 195: in a breast cancer sample; somatic mutation<li>T->A at 237: has a protective role in both obesity and diabetes; dbSNP:rs2281939<li>Y->C at 485: in dbSNP:rs35808802</ul>									<li>rs943542</li><li>rs2281939</li><li>rs35808802</li><li>rs7081076</li>	2
Q9BX69	84674	<ul><li>S->L at 86: in dbSNP:rs10512747<li>R->K at 93: in dbSNP:rs7715491<li>M->K at 395: in dbSNP:rs3812030<li>D->V at 426: in dbSNP:rs3812031<li>A->D at 575: in dbSNP:rs36085996<li>I->V at 576: in dbSNP:rs323562</ul>									<li>rs323562</li><li>rs10512747</li><li>rs36085996</li><li>rs3812030</li><li>rs3812031</li><li>rs7715491</li>	2
Q9BX79	64220	<ul><li>P->L at 90: in MCOPS9, MIM: 601186<li>P->L at 293: in MCOPS9, MIM: 601186<li>T->P at 321: in MCOPS9, MIM: 601186<li>G->S at 339: in dbSNP:rs17852249, MIM: 601186<li>L->F at 517: in dbSNP:rs11545567, MIM: 601186<li>M->I at 527: in dbSNP:rs736118, MIM: 601186<li>T->M at 644: in MCOPS9, MIM: 601186<li>R->C at 655: in MCOPS9, MIM: 601186</ul>								Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]	<li>rs11545567</li><li>rs736118</li><li>rs17852249</li>	2
Q9BX82	57573	<ul><li>M->I at 192: in dbSNP:rs11667052<li>F->C at 361: in a colorectal cancer sample; somatic mutation<li>G->D at 406: in dbSNP:rs3752176<li>S->C at 556: in dbSNP:rs16987303</ul>									<li>rs3752176</li><li>rs16987303</li><li>rs11667052</li>	2
Q9BX84	140803	<ul><li>G->V at 75: in a lung adenocarcinoma sample; somatic mutation<li>S->L at 141: in HOMG1; impairs heterodimer formation resulting in intracellular retention, MIM: 602014<li>M->I at 338: in dbSNP rsrs56155062, MIM: 602014<li>F->L at 948: in dbSNP:rs13290391, MIM: 602014<li>W->C at 1007: in a lung large cell carcinoma sample; somatic mutation, MIM: 602014<li>N->D at 1071: in dbSNP:rs2274922, MIM: 602014<li>H->R at 1243: in dbSNP rsrs55694430, MIM: 602014<li>Q->R at 1274: in dbSNP:rs34608911, MIM: 602014<li>V->I at 1393: in dbSNP:rs3750425, MIM: 602014<li>K->E at 1584: in dbSNP:rs2274924, MIM: 602014<li>Q->R at 1663: in dbSNP rsrs55679040, MIM: 602014<li>L->S at 1673: in dbSNP rsrs56254742, MIM: 602014<li>T->I at 1724: in dbSNP rsrs56290308, MIM: 602014</ul>					intracellular	GO:0005622		Hypomagnesemia type 1 (HOMG1) [MIM:602014]	<li>rs34608911</li><li>rs2274924</li><li>rs13290391</li><li>rs2274922</li><li>rs56290308</li><li>rs56254742</li><li>rs3750425</li><li>rs55679040</li><li>rs55694430</li><li>rs56155062</li>	2
Q9BXA7	83942	<ul><li>A->T at 50<li>H->Y at 83: in dbSNP rsrs55930004<li>V->L at 233: in dbSNP rsrs55940513<li>R->C at 237: in dbSNP rsrs55738530<li>G->W at 288: in dbSNP:rs34696815<li>G->E at 293: in dbSNP:rs11953478</ul>									<li>rs34696815</li><li>rs55940513</li><li>rs11953478</li><li>rs55930004</li><li>rs55738530</li>	2
Q9BXA9		<ul><li>R->H at 143: in a colorectal cancer sample; somatic mutation<li>V->L at 593</ul>										2
Q9BXB1	55366	<ul><li>S->G at 215: in dbSNP:rs2448010<li>N->S at 233: in dbSNP:rs2472617<li>A->V at 480: in dbSNP:rs12284579<li>R->G at 684: in dbSNP:rs7125959<li>T->M at 709: in dbSNP:rs34717439<li>D->G at 844: in dbSNP:rs34804482</ul>									<li>rs2448010</li><li>rs7125959</li><li>rs34717439</li><li>rs12284579</li><li>rs34804482</li><li>rs2472617</li>	2
Q9BXB4	114885	<ul><li>S->L at 184: in a breast cancer sample; somatic mutation</ul>										2
Q9BXB5	114884	<ul><li>N->D at 254: in dbSNP:rs2290532</ul>									rs2290532	2
Q9BXB7	83893	<ul><li>N->S at 50: in dbSNP:rs16846624<li>E->K at 78: in dbSNP:rs1515441<li>E->G at 90: in dbSNP:rs11558933<li>M->V at 133: in dbSNP:rs1515442<li>G->E at 147: in dbSNP:rs16846616<li>R->Q at 283: in globozoospermia, MIM: 609856<li>V->M at 286, MIM: 609856<li>V->M at 423, MIM: 609856<li>A->V at 509, MIM: 609856<li>M->T at 526, MIM: 609856<li>Q->R at 564, MIM: 609856</ul>								Globozoospermia [MIM:609856]	<li>rs16846616</li><li>rs16846624</li><li>rs1515442</li><li>rs11558933</li><li>rs1515441</li>	2
Q9BXC0	27198	<ul><li>H->Q at 43: in dbSNP rsrs35292336<li>D->E at 253</ul>									rs35292336	2
Q9BXC1	84636	<ul><li>S->P at 162: in dbSNP:rs3827440</ul>									rs3827440	2
Q9BXC9	583	<ul><li>R->P at 23: in BBS2, MIM: 209900<li>N->S at 70: in BBS2; dbSNP:rs4784677, MIM: 209900<li>V->G at 75: in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred, MIM: 209900<li>D->A at 104: in BBS2, MIM: 209900<li>A->V at 122: in dbSNP:rs17856449, MIM: 209900<li>I->V at 123: polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred; dbSNP:rs11373, MIM: 209900<li>D->E at 174: in BBS2, MIM: 209900<li>R->Q at 315: in BBS2, MIM: 209900<li>R->W at 315: in BBS2, MIM: 209900<li>L->W at 349: in BBS2; has a modifier effect on BBS, MIM: 209900<li>A->V at 504: in dbSNP:rs16957538, MIM: 209900<li>T->I at 558: in BBS2, MIM: 209900<li>R->P at 632: in BBS2, MIM: 209900<li>R->H at 643: in BBS2, MIM: 209900</ul>							Q9BXC9	Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	<li>rs4784677</li><li>rs11373</li><li>rs17856449</li><li>rs16957538</li>	2
Q9BXF3	27443	<ul><li>R->H at 293: in dbSNP:rs5747211<li>P->L at 632: in dbSNP:rs1296794<li>P->L at 674: in dbSNP:rs1296794</ul>									<li>rs1296794</li><li>rs5747211</li>	2
Q9BXF9	64518	<ul><li>R->H at 3: in dbSNP:rs7226363<li>G->A at 282: in dbSNP:rs230898<li>V->A at 296: in dbSNP:rs6502446<li>E->D at 410: in dbSNP:rs35855709</ul>									<li>rs230898</li><li>rs6502446</li><li>rs35855709</li><li>rs7226363</li>	2
Q9BXG8	84654	<ul><li>V->L at 17: in dbSNP:rs1862136<li>E->K at 302: in dbSNP:rs6867419</ul>									<li>rs6867419</li><li>rs1862136</li>	2
Q9BXI2	83884	<ul><li>G->C at 159: in dbSNP:rs10075302<li>V->G at 181: in dbSNP:rs3749779<li>V->I at 226: in dbSNP:rs3749780</ul>									<li>rs10075302</li><li>rs3749780</li><li>rs3749779</li>	2
Q9BXI6	83874	<ul><li>R->H at 411: in dbSNP:rs4823086</ul>									rs4823086	2
Q9BXI9	114904	<ul><li>G->V at 2: in dbSNP:rs229527<li>P->R at 23: in dbSNP:rs229526<li>G->D at 36: in dbSNP:rs7290488<li>P->L at 119: in dbSNP:rs17812699<li>R->H at 207: in dbSNP:rs17812681</ul>									<li>rs17812681</li><li>rs7290488</li><li>rs229526</li><li>rs229527</li><li>rs17812699</li>	2
Q9BXJ0	114902	<ul><li>Q->R at 44: in dbSNP:rs11538245<li>S->R at 163: in LORD, MIM: 605670</ul>								Late-onset retinal degeneration (LORD) [MIM:605670]	rs11538245	2
Q9BXJ7	81693	<ul><li>T->I at 41: in MGA1: in dbSNP rsrs28939377, MIM: 261100</ul>							P53050	Recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]	rs28939377	2
Q9BXJ8	83862	<ul><li>Q->R at 86: in dbSNP:rs17852664<li>T->A at 201: in dbSNP:rs17855697</ul>									<li>rs17852664</li><li>rs17855697</li>	2
Q9BXK5	23786	<ul><li>I->V at 55: in dbSNP:rs16981016<li>P->S at 360: in dbSNP:rs9306198</ul>									<li>rs16981016</li><li>rs9306198</li>	2
Q9BXL6	79092	<ul><li>R->S at 547: in dbSNP:rs2066964<li>V->I at 585: in dbSNP:rs34367357<li>R->H at 883: in dbSNP:rs2289541</ul>									<li>rs34367357</li><li>rs2066964</li><li>rs2289541</li>	2
Q9BXL7	84433	<ul><li>T->M at 670: in dbSNP:rs3735134<li>S->L at 694: in dbSNP:rs3735133</ul>									<li>rs3735134</li><li>rs3735133</li>	2
Q9BXM0	57716	<ul><li>A->T at 406<li>E->Q at 495<li>V->A at 882: in dbSNP:rs268671<li>I->M at 921: in dbSNP:rs268673<li>K->E at 935<li>P->R at 1083: in dbSNP:rs3745202<li>R->G at 1132: in dbSNP:rs268674<li>E->K at 1259<li>Missing at 1359<li>R->C at 1411</ul>									<li>rs3745202</li><li>rs268674</li><li>rs268671</li><li>rs268673</li>	2
Q9BXM7	65018	<ul><li>L->F at 67: could be associated with PD susceptibility<li>R->P at 68: could be associated with PD susceptibility<li>C->F at 92: in PARK6, MIM: 605909<li>R->W at 98: could be associated with PD susceptibility, MIM: 605909<li>I->S at 111: could be associated with PD susceptibility, MIM: 605909<li>Q->L at 115, MIM: 605909<li>A->V at 124: could be associated with PD susceptibility, MIM: 605909<li>T->M at 145: could be associated with PD susceptibility; dbSNP:rs45604240, MIM: 605909<li>R->H at 147: in PARK6; uncertain pathogenicity, MIM: 605909<li>L->W at 148: in dbSNP:rs56297806, MIM: 605909<li>A->P at 168: in PARK6, MIM: 605909<li>K->N at 186: could be associated with PD susceptibility, MIM: 605909<li>P->L at 196: in PARK6, MIM: 605909<li>P->S at 196: in dbSNP:rs35802484, MIM: 605909<li>P->L at 209: in dbSNP:rs34677717, MIM: 605909<li>P->L at 215: in a glioblastoma multiforme sample; somatic mutation, MIM: 605909<li>A->D at 217: in PARK6, MIM: 605909<li>E->G at 231: could be associated with PD susceptibility, MIM: 605909<li>N->I at 235, MIM: 605909<li>E->K at 240: in PARK6, MIM: 605909<li>T->I at 257: could be associated with PD susceptibility, MIM: 605909<li>R->G at 263, MIM: 605909<li>L->V at 268: in PARK6, MIM: 605909<li>H->Q at 271: in PARK6: in dbSNP rsrs28940284, MIM: 605909<li>R->Q at 276: could be associated with PD susceptibility, MIM: 605909<li>R->H at 279: in PARK6, MIM: 605909<li>P->L at 296: could be associated with PD susceptibility, MIM: 605909<li>P->L at 305: in dbSNP:rs7349186, MIM: 605909<li>G->D at 309: in PARK6; fails to maintain mitochondrial membrane potential and protect against apoptosis following induction of stress, MIM: 605909<li>T->M at 313: in PARK6, MIM: 605909<li>V->I at 317: could be associated with PD susceptibility, MIM: 605909<li>M->L at 318, MIM: 605909<li>P->L at 322: could be associated with PD susceptibility, MIM: 605909<li>A->T at 339: could be associated with PD susceptibility; dbSNP:rs55831733, MIM: 605909<li>A->T at 340: in dbSNP:rs3738136, MIM: 605909<li>M->I at 341: in dbSNP:rs35813094, MIM: 605909<li>L->P at 347: in PARK6: in dbSNP rsrs28940285, MIM: 605909<li>D->H at 362, MIM: 605909<li>C->F at 377: in dbSNP:rs34203620, MIM: 605909<li>A->T at 383: could be associated with PD susceptibility; dbSNP:rs45515602, MIM: 605909<li>C->R at 388: in PARK6, MIM: 605909<li>G->V at 395: could be associated with PD susceptibility, MIM: 605909<li>G->S at 411: in dbSNP:rs45478900, MIM: 605909<li>E->G at 417: in PARK6, MIM: 605909<li>P->S at 425: could be associated with PD susceptibility, MIM: 605909<li>Y->H at 431: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909<li>I->T at 442: could be associated with PD susceptibility, MIM: 605909<li>N->S at 451: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909<li>L->S at 461, MIM: 605909<li>R->H at 464: in PARK6, MIM: 605909<li>E->K at 476: could be associated with PD susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909<li>S->T at 477: in dbSNP:rs34416410, MIM: 605909<li>L->P at 489: in PARK6, MIM: 605909<li>R->P at 501: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909<li>N->T at 521: in dbSNP:rs1043424, MIM: 605909<li>D->N at 525: could be associated with PD susceptibility, MIM: 605909<li>Q->QQ at 534: in PARK6, MIM: 605909<li>A->T at 537: could be associated with PD susceptibility, MIM: 605909<li>C->R at 575: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909</ul>	apoptosis	GO:0006915			mitochondrial membrane	GO:0005740		Autosomal recessive early-onset Parkinson disease 6 (PARK6) [MIM:605909, 168600]	<li>rs34677717</li><li>rs28940285</li><li>rs28940284</li><li>rs35802484</li><li>rs45478900</li><li>rs3738136</li><li>rs35813094</li><li>rs45604240</li><li>rs55831733</li><li>rs56297806</li><li>rs1043424</li><li>rs7349186</li><li>rs34203620</li><li>rs34416410</li><li>rs45515602</li>	2
Q9BXN2	64581	<ul><li>I->S at 223: in dbSNP:rs16910527</ul>									rs16910527	2
Q9BXN6	64648	<ul><li>V->L at 68: in dbSNP:rs5953618</ul>									rs5953618	2
Q9BXP8	60676	<ul><li>T->S at 171: in dbSNP:rs36112782<li>P->R at 1657: in dbSNP:rs34602579</ul>									<li>rs36112782</li><li>rs34602579</li>	2
Q9BXR5	81793	<ul><li>A->S at 163: in dbSNP:rs11466649<li>L->P at 167: in dbSNP:rs11466650<li>N->H at 241: in dbSNP:rs11096957<li>V->I at 298: in dbSNP:rs11466651<li>M->T at 326: in dbSNP:rs11466653<li>I->L at 369: in dbSNP:rs11096955<li>G->D at 381: in dbSNP:rs11466655<li>R->G at 469: in dbSNP:rs11466656<li>I->T at 473: in dbSNP:rs11466657<li>R->W at 525: in dbSNP:rs11466658<li>Y->C at 736: in dbSNP:rs11466660<li>I->L at 775: in dbSNP:rs4129009<li>R->Q at 799: in dbSNP:rs4129008</ul>									<li>rs11466658</li><li>rs11466656</li><li>rs11466657</li><li>rs11466655</li><li>rs11466653</li><li>rs11466649</li><li>rs4129009</li><li>rs4129008</li><li>rs11096957</li><li>rs11096955</li><li>rs11466660</li><li>rs11466651</li><li>rs11466650</li>	2
Q9BXR6	81494	<ul><li>P->S at 46: in dbSNP:rs12097550<li>N->S at 216: in a breast cancer sample; somatic mutation<li>R->H at 356: in dbSNP:rs35662416<li>L->I at 521: in dbSNP:rs35957013<li>L->R at 529: in dbSNP:rs16840956</ul>									<li>rs16840956</li><li>rs35957013</li><li>rs35662416</li><li>rs12097550</li>	2
Q9BXS5	8907	<ul><li>R->Q at 303: in a breast cancer sample; somatic mutation</ul>										2
Q9BXS9	65010	<ul><li>V->M at 206: in dbSNP:rs13324142</ul>									rs13324142	2
Q9BXT6	54456	<ul><li>M->L at 57: in dbSNP:rs9617066<li>R->C at 182: in dbSNP:rs3810971<li>I->L at 454: in dbSNP:rs760749<li>V->I at 650: in dbSNP:rs2340601<li>S->G at 683: in dbSNP:rs3736689<li>Q->R at 820: in dbSNP:rs2272837<li>A->E at 1179: in dbSNP:rs2272843</ul>									<li>rs3736689</li><li>rs2272843</li><li>rs2340601</li><li>rs2272837</li><li>rs9617066</li><li>rs760749</li><li>rs3810971</li>	2
Q9BXT8	56163	<ul><li>K->N at 346: in dbSNP:rs1451568<li>G->S at 467: in dbSNP:rs9581180<li>S->G at 501: in dbSNP:rs9507413<li>A->P at 573: in dbSNP:rs10161760<li>H->R at 667: in dbSNP:rs9511451<li>N->K at 1110: in dbSNP:rs3783082<li>E->K at 1380: in dbSNP:rs9507425</ul>									<li>rs9507425</li><li>rs10161760</li><li>rs1451568</li><li>rs9511451</li><li>rs9581180</li><li>rs3783082</li><li>rs9507413</li>	2
Q9BXU1	56164	<ul><li>Q->H at 71: in dbSNP:rs6945306<li>S->F at 125: in dbSNP rsrs56268851<li>E->K at 261: in dbSNP:rs10264952<li>K->N at 268: in dbSNP:rs10264967<li>I->K at 277: in dbSNP rsrs55950645<li>T->P at 362: in dbSNP:rs35545265<li>R->C at 385: in dbSNP:rs35995607<li>A->T at 393: in dbSNP rsrs56244148<li>G->E at 410: in dbSNP:rs4722266<li>A->P at 489: in dbSNP:rs34414354<li>A->T at 600: in dbSNP rsrs55796076<li>N->K at 621: in dbSNP:rs10263079<li>S->I at 623: in dbSNP:rs10247878<li>H->R at 684: in dbSNP rsrs41273999<li>H->Y at 684: in a lung neuroendocrine carcinoma sample; somatic mutation<li>E->K at 709: in dbSNP rsrs56181834<li>V->L at 860: in a lung small cell carcinoma sample; somatic mutation<li>T->M at 1000: in dbSNP rsrs55794023<li>K->T at 1009: in dbSNP:rs33998018<li>T->S at 1010: in dbSNP rsrs56391043</ul>									<li>rs55794023</li><li>rs56268851</li><li>rs33998018</li><li>rs10263079</li><li>rs35545265</li><li>rs56391043</li><li>rs6945306</li><li>rs10264952</li><li>rs41273999</li><li>rs34414354</li><li>rs55796076</li><li>rs55950645</li><li>rs56181834</li><li>rs10247878</li><li>rs4722266</li><li>rs56244148</li><li>rs10264967</li><li>rs35995607</li>	2
Q9BXU8	53940	<ul><li>Q->H at 120: in dbSNP:rs16989319<li>Y->H at 138: in dbSNP:rs17340519</ul>									<li>rs17340519</li><li>rs16989319</li>	2
Q9BXW6	114876	<ul><li>S->P at 810: in dbSNP:rs35693789</ul>									rs35693789	2
Q9BXW7	27440	<ul><li>T->M at 179: in dbSNP:rs35665085<li>R->S at 369: in dbSNP:rs16982020<li>R->C at 416: in dbSNP:rs35327402</ul>									<li>rs35327402</li><li>rs35665085</li><li>rs16982020</li>	2
Q9BXW9	2177	<ul><li>K->R at 33: in dbSNP rsrs34691009<li>T->M at 61: in dbSNP rsrs35110529<li>Q->H at 65: in dbSNP rsrs36084488<li>S->G at 126: in FA, MIM: 227650<li>I->M at 172: in dbSNP:rs35173688, MIM: 227650<li>T->A at 193: in dbSNP rsrs34936017, MIM: 227650<li>R->W at 302: in FA, MIM: 227650<li>R->Q at 328: in dbSNP rsrs35625434, MIM: 227650<li>L->V at 446: in dbSNP:rs34557223, MIM: 227650<li>L->R at 456: in dbSNP:rs35782247, MIM: 227650<li>Q->P at 623: in dbSNP:rs36070315, MIM: 227650<li>P->L at 714: common polymorphism; dbSNP:rs3864017, MIM: 227650<li>K->R at 865: in dbSNP:rs35546777, MIM: 227650<li>G->V at 901: in dbSNP:rs35495399, MIM: 227650<li>R->H at 1236: in FA; no effect on ubiquitination, MIM: 227650</ul>								Fanconi anemia (FA) [MIM:227650]	<li>rs35546777</li><li>rs35110529</li><li>rs34691009</li><li>rs36070315</li><li>rs35625434</li><li>rs36084488</li><li>rs34936017</li><li>rs3864017</li><li>rs35495399</li><li>rs35782247</li><li>rs35173688</li><li>rs34557223</li>	2
Q9BXX2		<ul><li>V->M at 375: in dbSNP:rs9748611<li>F->L at 477: in dbSNP:rs9675365</ul>									<li>rs9748611</li><li>rs9675365</li>	2
Q9BXX3	91074	<ul><li>Q->E at 227: in a breast cancer sample; somatic mutation<li>T->A at 611: in dbSNP:rs16937417<li>K->N at 917: in dbSNP:rs1209750</ul>									<li>rs1209750</li><li>rs16937417</li>	2
Q9BXY0	84549	<ul><li>Q->R at 277: in dbSNP:rs6468171</ul>									rs6468171	2
Q9BY07	57835	<ul><li>S->N at 251: in dbSNP:rs17009792</ul>									rs17009792	2
Q9BY10	57864	<ul><li>A->V at 366: in dnSNP:16917454: in dbSNP rsrs16917454</ul>									rs16917454	2
Q9BY11	29993	<ul><li>A->V at 334: in dbSNP:rs41312309</ul>									rs41312309	2
Q9BY12	49855	<ul><li>P->T at 1088: in dbSNP:rs1607017<li>A->T at 1139: in dbSNP:rs3743176</ul>									<li>rs3743176</li><li>rs1607017</li>	2
Q9BY15	84658	<ul><li>E->Q at 127: in dbSNP:rs4606855</ul>									rs4606855	2
Q9BY19	83661	<ul><li>V->L at 95: in dbSNP:rs35956659</ul>									rs35956659	2
Q9BY21	53836	<ul><li>D->Y at 191: in a colorectal cancer sample; somatic mutation</ul>										2
Q9BY32	3704	<ul><li>P->T at 32: in ITPA deficiency; complete loss of enzymatic activity at homozygosity; partial loss of activity without ITP accumulation in heterozygous individuals; dbSNP:rs1127354, MIM: 147520</ul>							<li>Q9BY32</li><li>Q26491</li>	Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) [MIM:147520]	rs1127354	2
Q9BY42	51507	<ul><li>T->A at 159: in dbSNP:rs6024909<li>V->M at 171: in dbSNP:rs1059768</ul>									<li>rs1059768</li><li>rs6024909</li>	2
Q9BY43	29082	<ul><li>G->R at 153: in dbSNP:rs2295322</ul>									rs2295322	2
Q9BY44	83939	<ul><li>T->S at 97: in dbSNP:rs1132979<li>E->K at 582: in dbSNP:rs17850813</ul>									<li>rs1132979</li><li>rs17850813</li>	2
Q9BY49	55825	<ul><li>E->K at 149: in dbSNP:rs1429148<li>F->L at 297: in dbSNP:rs9288513</ul>									<li>rs9288513</li><li>rs1429148</li>	2
Q9BY66	8284	<ul><li>V->L at 1186: in dbSNP:rs1050807</ul>									rs1050807	2
Q9BY76	51129	<ul><li>P->L at 5<li>E->K at 40: associated with lower plasma levels of triglyceride and higher levels of HDL cholesterol<li>M->I at 41<li>S->R at 67<li>R->L at 72<li>G->R at 77<li>E->K at 167<li>P->S at 174<li>E->Q at 190<li>E->K at 196<li>R->C at 230<li>G->R at 233<li>F->V at 237<li>P->T at 251<li>T->M at 266: in dbSNP:rs1044250<li>R->Q at 278: in dbSNP:rs35061979<li>V->M at 291<li>L->M at 293<li>E->V at 296<li>P->S at 307<li>V->M at 308<li>R->C at 336<li>D->E at 338<li>W->C at 349<li>G->R at 361<li>G->S at 361<li>R->Q at 371<li>R->W at 384</ul>									<li>rs35061979</li><li>rs1044250</li>	2
Q9BY79	83552	<ul><li>R->G at 54<li>I->V at 119: in dbSNP:rs4639950<li>V->M at 136: in dbSNP:rs3814762<li>I->T at 182: in NNO2, MIM: 609549<li>G->S at 449, MIM: 609549<li>Q->H at 514, MIM: 609549</ul>								Nanophthalmos 2 (NNO2) [MIM:609549]	<li>rs3814762</li><li>rs4639950</li>	2
Q9BY84	80824	<ul><li>T->M at 23: in dbSNP:rs36049447<li>V->M at 366: in dbSNP:rs3809199</ul>									<li>rs36049447</li><li>rs3809199</li>	2
Q9BYB0		<ul><li>R->C at 12<li>A->G at 198<li>A->T at 224<li>I->T at 245: in dbSNP:rs9616915<li>R->C at 300</ul>									rs9616915	2
Q9BYB4	54584	<ul><li>E->K at 30: in dbSNP:rs35178436<li>R->H at 37: in dbSNP:rs5748449<li>W->G at 239: in dbSNP:rs2073770<li>A->T at 296: in a breast cancer sample; somatic mutation</ul>									<li>rs5748449</li><li>rs35178436</li><li>rs2073770</li>	2
Q9BYC5	2530	<ul><li>K->Q at 101: in dbSNP:rs2229678<li>T->K at 267: in dbSNP:rs35949016</ul>									<li>rs2229678</li><li>rs35949016</li>	2
Q9BYD2	65005	<ul><li>E->G at 67: in dbSNP:rs7007<li>E->A at 210: in dbSNP:rs8480</ul>									<li>rs8480</li><li>rs7007</li>	2
Q9BYD6	65008	<ul><li>T->K at 25: in dbSNP:rs17851275<li>F->S at 155: in dbSNP:rs17855456</ul>									<li>rs17851275</li><li>rs17855456</li>	2
Q9BYE3	84648	<ul><li>G->V at 43: in dbSNP:rs512208</ul>									rs512208	2
Q9BYE9	54825	<ul><li>Q->H at 107: in dbSNP:rs6886860<li>A->G at 415: in dbSNP:rs3762960<li>V->A at 424: in dbSNP:rs11134982<li>L->P at 766: in dbSNP:rs752138<li>T->M at 901: in dbSNP:rs35018750<li>V->M at 948: in dbSNP:rs3749625<li>P->L at 1004: in an acute myeloid leukemia sample; somatic mutation<li>T->M at 1128: in dbSNP:rs2291442<li>L->M at 1164: in dbSNP:rs17078347</ul>									<li>rs3749625</li><li>rs6886860</li><li>rs35018750</li><li>rs752138</li><li>rs2291442</li><li>rs3762960</li><li>rs17078347</li><li>rs11134982</li>	2
Q9BYF1	59272	<ul><li>K->R at 26: in dbSNP:rs4646116<li>N->S at 638</ul>									rs4646116	2
Q9BYG3	84365	<ul><li>P->Q at 144: in dbSNP:rs17852212</ul>									rs17852212	2
Q9BYG7	83876	<ul><li>R->S at 39: in dbSNP:rs4940019<li>T->A at 134: in dbSNP:rs2849233</ul>									<li>rs2849233</li><li>rs4940019</li>	2
Q9BYG8	56169	<ul><li>P->S at 23: in dbSNP:rs10090835<li>R->K at 150: in dbSNP:rs16904151<li>T->M at 475: in dbSNP:rs4144738</ul>									<li>rs4144738</li><li>rs16904151</li><li>rs10090835</li>	2
Q9BYH1	23544	<ul><li>P->L at 52: in dbSNP:rs6004989<li>W->L at 185: in dbSNP:rs137203<li>M->I at 430: in dbSNP:rs663048<li>Q->H at 671: in dbSNP:rs586542</ul>									<li>rs6004989</li><li>rs586542</li><li>rs663048</li><li>rs137203</li>	2
Q9BYH8	64332	<ul><li>T->S at 307: in dbSNP:rs3821727</ul>									rs3821727	2
Q9BYI3	84668	<ul><li>L->P at 53: in HCC, MIM: 610532</ul>							<li>Q8T115</li><li>Q9NFL6</li>	Hypomyelination with congenital cataract (HCC) [MIM:610532]		2
Q9BYJ0	83888	<ul><li>P->S at 90: in dbSNP:rs758329</ul>									rs758329	2
Q9BYJ1	59344	<ul><li>R->S at 396: in NCIE, MIM: 242100<li>V->F at 500: in NCIE, MIM: 242100</ul>								Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]		2
Q9BYJ4	53840	<ul><li>T->S at 276: in dbSNP:rs6578670<li>D->H at 282: in dbSNP:rs3740997<li>N->K at 404: in dbSNP:rs16933844</ul>									<li>rs3740997</li><li>rs6578670</li><li>rs16933844</li>	2
Q9BYK8	85441	<ul><li>N->S at 788: in dbSNP:rs438363<li>R->H at 1123: in dbSNP:rs310632<li>S->L at 1152: in dbSNP:rs35817585<li>V->L at 1308: in dbSNP:rs310631<li>R->K at 1381: in dbSNP:rs3810487<li>L->R at 1821: in dbSNP:rs3810486<li>T->A at 1889: in dbSNP:rs34980032<li>P->L at 2016: in dbSNP:rs3810485<li>Q->E at 2049: in dbSNP:rs3810483<li>T->M at 2170: in dbSNP:rs3810481</ul>									<li>rs35817585</li><li>rs438363</li><li>rs3810487</li><li>rs310631</li><li>rs3810485</li><li>rs3810486</li><li>rs3810483</li><li>rs34980032</li><li>rs3810481</li><li>rs310632</li>	2
Q9BYP7	65267	<ul><li>Q->H at 704: in dbSNP rsrs56077971<li>S->C at 854: in a lung squamous cell carcinoma sample; somatic mutation<li>A->T at 998: in dbSNP rsrs56404148<li>K->E at 1169: in dbSNP rsrs55903619<li>T->I at 1328: in dbSNP rsrs55879434<li>L->F at 1486: in a lung large cell carcinoma sample; somatic mutation<li>S->P at 1577: in a renal clear cell carcinoma sample; somatic mutation</ul>									<li>rs55879434</li><li>rs55903619</li><li>rs56077971</li><li>rs56404148</li>	2
Q9BYQ4	83899	<ul><li>P->S at 36: in dbSNP:rs9903833<li>C->S at 56: in dbSNP:rs9902235</ul>									<li>rs9903833</li><li>rs9902235</li>	2
Q9BYQ7	85285	<ul><li>H->R at 66: in dbSNP:rs2320231<li>S->R at 96: in dbSNP:rs35382039<li>A->T at 115: in dbSNP:rs398825</ul>									<li>rs2320231</li><li>rs398825</li><li>rs35382039</li>	2
Q9BYR3	84616	<ul><li>Y->C at 25: in dbSNP:rs385055<li>C->S at 35: in dbSNP:rs444509<li>Missing  at 40-99: in allele KAP4.13<li>R->S at 154: in dbSNP:rs366700</ul>							Q9BYU7		<li>rs444509</li><li>rs366700</li><li>rs385055</li>	2
Q9BYR4	85290	<ul><li>P->S at 122: in dbSNP:rs428371<li>P->S at 152: in dbSNP:rs428371</ul>									rs428371	2
Q9BYR7	100128819	<ul><li>S->G at 8: in dbSNP:rs9897046<li>R->C at 27: in dbSNP:rs3829598<li>I->T at 46: in dbSNP:rs3813050</ul>									<li>rs9897046</li><li>rs3829598</li><li>rs3813050</li>	2
Q9BYS8	79442	<ul><li>V->A at 32: in dbSNP:rs28687398<li>T->A at 83: in dbSNP:rs17286758<li>A->E at 145: in dbSNP:rs17078944</ul>									<li>rs17078944</li><li>rs28687398</li><li>rs17286758</li>	2
Q9BYT3	65975	<ul><li>E->D at 98: in dbSNP:rs34525052<li>L->V at 160: in a lung large cell carcinoma sample; somatic mutation<li>D->E at 436: in dbSNP:rs3751096<li>A->T at 437: in dbSNP:rs3751095<li>A->E at 458: in dbSNP:rs35296353</ul>									<li>rs34525052</li><li>rs3751096</li><li>rs35296353</li><li>rs3751095</li>	2
Q9BYT8	57486	<ul><li>S->G at 323: in dbSNP:rs34063558<li>K->R at 372: in dbSNP:rs6863012<li>S->G at 417: in dbSNP:rs2289884<li>P->S at 704: in dbSNP:rs6860508</ul>									<li>rs6860508</li><li>rs2289884</li><li>rs6863012</li><li>rs34063558</li>	2
Q9BYU1	80714	<ul><li>T->M at 283: in a colorectal cancer sample; somatic mutation</ul>										2
Q9BYV1	64902	<ul><li>S->N at 102: in dbSNP:rs37370<li>G->R at 132: in dbSNP:rs16870794<li>V->I at 140: in dbSNP:rs37369<li>T->I at 212: in dbSNP:rs180749<li>P->R at 492: in dbSNP:rs17245714<li>V->L at 498: in dbSNP:rs16899974</ul>									<li>rs17245714</li><li>rs180749</li><li>rs16870794</li><li>rs37370</li><li>rs37369</li><li>rs16899974</li>	2
Q9BYV6	84675	<ul><li>K->R at 343: in dbSNP:rs7843605</ul>									rs7843605	2
Q9BYV7	83875	<ul><li>P->L at 208: in dbSNP:rs10891338<li>G->E at 266: in dbSNP:rs17113607<li>L->I at 525: in dbSNP:rs2217401</ul>									<li>rs2217401</li><li>rs10891338</li><li>rs17113607</li>	2
Q9BYV9	60468	<ul><li>A->T at 418: in dbSNP:rs34335140</ul>									rs34335140	2
Q9BYW1	66035	<ul><li>D->N at 60: in dbSNP:rs7292659<li>R->Q at 232: in dbSNP:rs9608213<li>I->F at 420: in dbSNP:rs34096096</ul>									<li>rs7292659</li><li>rs9608213</li><li>rs34096096</li>	2
Q9BYW2	29072	<ul><li>V->L at 768: in dbSNP:rs9311404<li>A->D at 1868: in dbSNP:rs11721074<li>P->L at 1962: in dbSNP:rs4082155</ul>									<li>rs4082155</li><li>rs11721074</li><li>rs9311404</li>	2
Q9BYX2	55357	<ul><li>P->T at 241: in dbSNP:rs879368<li>L->S at 253: in dbSNP:rs879369<li>G->V at 261: in dbSNP:rs1573025</ul>									<li>rs1573025</li><li>rs879368</li><li>rs879369</li>	2
Q9BYX4	64135	<ul><li>H->R at 460: in dbSNP:rs10930046<li>H->R at 843: in dbSNP:rs3747517<li>A->T at 946: associated with susceptibility to insulin-dependent diabetes mellitus; dbSNP:rs1990760</ul>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		<li>rs3747517</li><li>rs10930046</li><li>rs1990760</li>	2
Q9BYZ2	92483	<ul><li>V->M at 14: in dbSNP:rs3809530<li>P->L at 30: in dbSNP:rs3809529<li>P->S at 259: in dbSNP:rs35212259<li>I->T at 326: in dbSNP:rs3825937</ul>									<li>rs35212259</li><li>rs3809529</li><li>rs3825937</li><li>rs3809530</li>	2
Q9BYZ8	83998	<ul><li>N->H at 135: in dbSNP:rs34996202</ul>									rs34996202	2
Q9BZ11	80332	<ul><li>N->S at 109: in dbSNP:rs41467948<li>T->A at 178: in dbSNP:rs3918392<li>T->M at 272: in dbSNP rsrs41534847<li>V->I at 316: in dbSNP rsrs41459049<li>P->S at 336: in dbSNP:rs41483049<li>A->S at 365: in dbSNP rsrs41419248<li>D->E at 441: in dbSNP rsrs41382144<li>W->R at 515: in dbSNP:rs615436<li>L->H at 612: in dbSNP rsrs41453444<li>V->I at 710: in dbSNP rsrs3918396<li>C->G at 739: in dbSNP rsrs41434648<li>D->Y at 742: in dbSNP rsrs41462450<li>M->T at 764: in dbSNP:rs2280091<li>P->S at 774: in dbSNP:rs2280090</ul>									<li>rs41483049</li><li>rs41382144</li><li>rs2280091</li><li>rs2280090</li><li>rs41467948</li><li>rs3918392</li><li>rs3918396</li><li>rs41453444</li><li>rs41419248</li><li>rs41459049</li><li>rs615436</li><li>rs41434648</li><li>rs41534847</li><li>rs41462450</li>	2
Q9BZ19		<ul><li>R->C at 295: in dbSNP:rs584855</ul>									rs584855	2
Q9BZ23	80025	<ul><li>R->P at 94<li>L->Q at 111<li>G->A at 126: in dbSNP:rs3737084<li>G->V at 219: in PKAN; atypical, MIM: 234200<li>T->A at 234: in PKAN; atypical, MIM: 234200<li>R->W at 264: in PKAN, MIM: 234200<li>R->C at 278: in PKAN; atypical, MIM: 234200<li>L->V at 282: in PKAN, MIM: 234200<li>R->C at 286: in PKAN, MIM: 234200<li>T->I at 327: in PKAN, MIM: 234200<li>S->P at 351: in PKAN; atypical, MIM: 234200<li>N->S at 355: in PKAN; atypical, MIM: 234200<li>N->I at 404: in PKAN; atypical, MIM: 234200<li>L->P at 413: in PKAN, MIM: 234200<li>S->N at 471: in PKAN, MIM: 234200<li>I->T at 497: in PKAN, MIM: 234200<li>N->I at 500: in PKAN, MIM: 234200<li>G->R at 521: in PKAN, MIM: 234200<li>T->M at 528: in PKAN, MIM: 234200</ul>								Pantothenate kinase-associated neurodegeneration (PKAN) [MIM:234200]	rs3737084	2
Q9BZ29	23348	<ul><li>K->E at 1416: in dbSNP:rs16955934</ul>									rs16955934	2
Q9BZ71	83394	<ul><li>A->T at 80: in dbSNP:rs3809835<li>Q->H at 626: in CORD5, MIM: 600977</ul>								Cone-rod dystrophy type 5 (CORD5) [MIM:600977]	rs3809835	2
Q9BZ72	57605	<ul><li>P->L at 9: in dbSNP:rs17884869</ul>									rs17884869	2
Q9BZ76	79937	<ul><li>A->S at 628: in dbSNP:rs1758272<li>R->H at 845: in dbSNP:rs7852039</ul>									<li>rs7852039</li><li>rs1758272</li>	2
Q9BZ95	54904	<ul><li>R->P at 383: in dbSNP:rs2234552</ul>									rs2234552	2
Q9BZA7	27328	<ul><li>D->G at 42: in a colorectal cancer sample; somatic mutation<li>R->Q at 1018: in dbSNP:rs4252205</ul>									rs4252205	2
Q9BZA8	83259	<ul><li>V->F at 917: in dbSNP:rs2524543<li>N->K at 1012: in dbSNP:rs2563389<li>A->T at 1320: in dbSNP:rs2556900</ul>									<li>rs2556900</li><li>rs2524543</li><li>rs2563389</li>	2
Q9BZC1	56853	<ul><li>G->S at 388: in dbSNP:rs12458669</ul>									rs12458669	2
Q9BZC7		<ul><li>H->P at 583: in dbSNP:rs908828<li>F->V at 674: in dbSNP:rs2090625</ul>									<li>rs908828</li><li>rs2090625</li>	2
Q9BZD2	55315	<ul><li>R->G at 18: in dbSNP:rs2277257<li>S->F at 158: in dbSNP:rs780668<li>V->I at 239: in dbSNP:rs2252996<li>V->I at 326: in dbSNP:rs2487068<li>V->E at 452: in dbSNP:rs999940</ul>									<li>rs2487068</li><li>rs999940</li><li>rs2277257</li><li>rs780668</li><li>rs2252996</li>	2
Q9BZD3		<ul><li>R->H at 176: in an acute myeloid leukemia sample; somatic mutation</ul>										2
Q9BZD4	83540	<ul><li>S->L at 229: in dbSNP:rs11802875<li>S->R at 239: in dbSNP:rs16852767</ul>									<li>rs16852767</li><li>rs11802875</li>	2
Q9BZD6	79056	<ul><li>E->K at 33: in dbSNP:rs33962176<li>C->R at 143: in dbSNP:rs34736080<li>P->Q at 176: in dbSNP:rs34139105</ul>									<li>rs34736080</li><li>rs34139105</li><li>rs33962176</li>	2
Q9BZD7	79057	<ul><li>N->S at 153: in dbSNP:rs4323608</ul>									rs4323608	2
Q9BZE0	84662	<ul><li>T->A at 492: in dbSNP:rs8057701</ul>									rs8057701	2
Q9BZE1	51253	<ul><li>L->V at 322: in dbSNP:rs2275408<li>C->S at 366: in dbSNP:rs13571</ul>									<li>rs2275408</li><li>rs13571</li>	2
Q9BZE2	83480	<ul><li>Y->D at 3: in dbSNP:rs622756<li>A->S at 46: in dbSNP:rs549990<li>E->D at 460: in dbSNP:rs3088241</ul>									<li>rs3088241</li><li>rs622756</li><li>rs549990</li>	2
Q9BZE9	79058	<ul><li>L->Q at 252: in dbSNP:rs8074498<li>V->M at 318: in dbSNP:rs34085048<li>D->E at 487: in dbSNP:rs13087</ul>									<li>rs34085048</li><li>rs13087</li><li>rs8074498</li>	2
Q9BZF2	114881	<ul><li>T->I at 156: in dbSNP:rs35437144</ul>									rs35437144	2
Q9BZF3	114880	<ul><li>R->Q at 53: in dbSNP:rs3503292<li>P->L at 58: in dbSNP:rs34874235</ul>									<li>rs3503292</li><li>rs34874235</li>	2
Q9BZF9	55075	<ul><li>I->T at 814: in dbSNP:rs3743315</ul>									rs3743315	2
Q9BZG1	83871	<ul><li>V->L at 197: in dbSNP:rs12125</ul>									rs12125	2
Q9BZG8	1801	<ul><li>A->V at 7: in breast and ovarian cancer<li>A->D at 34: in breast and ovarian cancer<li>L->V at 335: in breast and ovarian cancer; requires 2 nucleotide substitutions<li>S->R at 389: in breast and ovarian cancer</ul>										2
Q9BZI7	65109	<ul><li>Y->D at 160: in MRXS14, MIM: 300676</ul>								X-linked syndromic mental retardation type 14 (MRXS14) [MIM:300676]		2
Q9BZJ0	51340	<ul><li>G->R at 35: in dbSNP:rs7508949<li>F->L at 51: in dbSNP:rs2273058<li>Q->H at 111: in dbSNP:rs2255258<li>T->A at 158: in dbSNP:rs2255255<li>V->I at 843: in dbSNP:rs35201190</ul>									<li>rs35201190</li><li>rs2255255</li><li>rs2255258</li><li>rs2273058</li><li>rs7508949</li>	2
Q9BZJ3		<ul><li>P->R at 15: in dbSNP:rs3865205<li>V->A at 18: in dbSNP:rs1800984<li>V->M at 76: in dbSNP:rs3993987</ul>									<li>rs1800984</li><li>rs3865205</li><li>rs3993987</li>	2
Q9BZJ4	51629	<ul><li>L->F at 247: in dbSNP:rs2011951</ul>									rs2011951	2
Q9BZJ6	81491	<ul><li>V->M at 21: in dbSNP:rs35358396</ul>									rs35358396	2
Q9BZL4	54776	<ul><li>R->C at 419: in dbSNP:rs35849605</ul>									rs35849605	2
Q9BZL6	25865	<ul><li>V->M at 324: in dbSNP rsrs45455991<li>A->V at 496: in dbSNP rsrs55716765<li>S->G at 604: in dbSNP rsrs34325043<li>W->R at 773: in dbSNP rsrs55933311<li>G->E at 848: in a lung adenocarcinoma sample; somatic mutation<li>G->E at 870: in a gastric adenocarcinoma sample; somatic mutation</ul>									<li>rs45455991</li><li>rs34325043</li><li>rs55933311</li><li>rs55716765</li>	2
Q9BZM3	170825	<ul><li>S->G at 107: in dbSNP:rs13144341</ul>									rs13144341	2
Q9BZM6	80329	<ul><li>L->I at 101: in dbSNP:rs6903584</ul>									rs6903584	2
Q9BZP6	27159	<ul><li>G->R at 102: in dbSNP:rs3818822<li>V->G at 324: in dbSNP:rs2256721<li>I->V at 339: in dbSNP:rs2275253<li>F->S at 354: in dbSNP:rs2275254<li>F->L at 377: in dbSNP:rs36011905<li>V->G at 432: in dbSNP:rs2256721</ul>									<li>rs2256721</li><li>rs2275253</li><li>rs2275254</li><li>rs36011905</li><li>rs3818822</li>	2
Q9BZQ2	81626	<ul><li>V->M at 563: in dbSNP:rs12138972</ul>									rs12138972	2
Q9BZQ8	116496	<ul><li>S->L at 633: in dbSNP:rs12750174<li>D->N at 692: in dbSNP:rs35704242<li>V->M at 720: in dbSNP:rs17313374<li>G->S at 830: in dbSNP:rs35601690</ul>									<li>rs12750174</li><li>rs35704242</li><li>rs35601690</li><li>rs17313374</li>	2
Q9BZS1	50943	<ul><li>Missing  at 251: in IPEX<li>I->V at 363: in IPEX, MIM: 304790<li>F->C at 371: in IPEX, MIM: 304790<li>A->T at 384: in IPEX, MIM: 304790<li>R->W at 397: in IPEX: in dbSNP rsrs28935477, MIM: 304790</ul>							Q9BZS1	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	rs28935477	2
Q9BZV1	80700	<ul><li>P->L at 425: in dbSNP:rs35436704</ul>									rs35436704	2
Q9BZV2	80704	<ul><li>G->V at 23: in BBGD, MIM: 607483<li>V->A at 350: in dbSNP:rs34507036, MIM: 607483<li>T->A at 422: in BBGD, MIM: 607483</ul>								Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]	rs34507036	2
Q9BZV3	50939	<ul><li>K->N at 344: in dbSNP:rs34375459<li>T->I at 674: in dbSNP:rs571391<li>P->L at 1013</ul>									<li>rs571391</li><li>rs34375459</li>	2
Q9BZW2	6561	<ul><li>F->L at 42: in dbSNP:rs28364181<li>V->I at 44: in dbSNP:rs28364177<li>Q->E at 157: in dbSNP:rs28364196<li>N->S at 174: in dbSNP:rs2140516<li>Y->C at 205: in dbSNP:rs28364231<li>R->H at 277: in dbSNP:rs28364200<li>V->A at 332: in dbSNP:rs28364201<li>I->T at 392: in dbSNP:rs28364210</ul>									<li>rs28364196</li><li>rs2140516</li><li>rs28364181</li><li>rs28364177</li><li>rs28364210</li><li>rs28364200</li><li>rs28364201</li><li>rs28364231</li>	2
Q9BZW5	53346	<ul><li>I->T at 17: in dbSNP:rs1062232<li>P->S at 59: in dbSNP:rs1989</ul>									<li>rs1989</li><li>rs1062232</li>	2
Q9BZY9	11074	<ul><li>P->R at 17: in dbSNP:rs36063651<li>R->C at 118: in dbSNP:rs3734838<li>V->I at 232: in dbSNP:rs2523989<li>L->P at 235: in dbSNP:rs35775852<li>E->K at 421: in dbSNP:rs1116221</ul>									<li>rs35775852</li><li>rs1116221</li><li>rs3734838</li><li>rs36063651</li><li>rs2523989</li>	2
Q9BZZ2	6614	<ul><li>V->L at 141: in dbSNP:rs35953127<li>V->M at 221: in dbSNP:rs6037651<li>K->R at 239: in dbSNP:rs625372<li>R->H at 464: in dbSNP:rs34924243<li>H->P at 919: in dbSNP:rs709012<li>A->V at 974: in dbSNP:rs3746638<li>S->Y at 1335: in dbSNP:rs3746636<li>R->W at 1487: in dbSNP:rs16988873<li>A->P at 1519: in dbSNP:rs2853217</ul>									<li>rs709012</li><li>rs2853217</li><li>rs16988873</li><li>rs35953127</li><li>rs6037651</li><li>rs3746638</li><li>rs34924243</li><li>rs3746636</li><li>rs625372</li>	2
Q9BZZ5	8539	<ul><li>P->S at 276<li>M->V at 300: in dbSNP:rs5743240<li>G->S at 493: in dbSNP:rs2862934</ul>									<li>rs5743240</li><li>rs2862934</li>	2
Q9C000	22861	<ul><li>L->H at 155: associated with susceptibility to vitiligo and vitiligo-associated autoimmune diseases; dbSNP:rs12150220<li>T->S at 246: in dbSNP:rs11651595<li>R->Q at 404: in dbSNP:rs3744718<li>T->M at 878: in dbSNP:rs11657747<li>V->M at 1059: in dbSNP:rs2301582<li>H->Y at 1069: in dbSNP:rs9907167<li>M->V at 1119: in dbSNP:rs35596958<li>M->V at 1184: in dbSNP:rs11651270<li>V->L at 1241: in dbSNP:rs11653832<li>R->C at 1366: in dbSNP:rs2137722</ul>									<li>rs11653832</li><li>rs11651595</li><li>rs2137722</li><li>rs3744718</li><li>rs9907167</li><li>rs11657747</li><li>rs11651270</li><li>rs35596958</li><li>rs12150220</li><li>rs2301582</li>	2
Q9C009	94234	<ul><li>T->P at 60: in dbSNP:rs9502889<li>Q->P at 61: in dbSNP:rs9502890</ul>									<li>rs9502889</li><li>rs9502890</li>	2
Q9C019	89870	<ul><li>I->V at 29: in dbSNP:rs17194460<li>A->T at 42: in dbSNP:rs17194467<li>E->Q at 84: in dbSNP:rs17194474<li>L->V at 235: in dbSNP:rs34823152<li>S->N at 324: in dbSNP:rs929156</ul>									<li>rs17194460</li><li>rs17194474</li><li>rs17194467</li><li>rs929156</li><li>rs34823152</li>	2
Q9C026	114088	<ul><li>L->F at 653: in dbSNP:rs2275462</ul>									rs2275462	2
Q9C029	81786	<ul><li>A->S at 18: in dbSNP:rs3857300<li>P->S at 73: in dbSNP:rs2770946<li>Q->E at 95: in dbSNP:rs2770945<li>V->A at 258: in dbSNP:rs416574<li>G->S at 363: in dbSNP:rs254460</ul>									<li>rs254460</li><li>rs2770946</li><li>rs2770945</li><li>rs3857300</li><li>rs416574</li>	2
Q9C035	85363	<ul><li>H->Y at 43: in dbSNP:rs3740996<li>V->F at 112: in dbSNP:rs11601507<li>R->Q at 136: in dbSNP rsrs10838525<li>G->D at 249: in dbSNP:rs11038628<li>H->Y at 419: in dbSNP:rs28381981<li>P->L at 479: in dbSNP:rs7104422</ul>									<li>rs28381981</li><li>rs3740996</li><li>rs10838525</li><li>rs7104422</li><li>rs11038628</li><li>rs11601507</li>	2
Q9C037	89122	<ul><li>P->S at 367: in dbSNP:rs35432946<li>S->C at 474: in dbSNP:rs33998596</ul>									<li>rs33998596</li><li>rs35432946</li>	2
Q9C056	84504	<ul><li>V->A at 209: in dbSNP:rs2804003</ul>									rs2804003	2
Q9C075	25984	<ul><li>T->A at 303: in dbSNP:rs9257<li>S->F at 393: in dbSNP:rs17856805</ul>									<li>rs9257</li><li>rs17856805</li>	2
Q9C093	79925	<ul><li>N->H at 71: in dbSNP:rs6897513<li>G->S at 74: in dbSNP:rs34307272<li>R->K at 366: in dbSNP:rs16902381<li>R->Q at 447: in dbSNP:rs34852821<li>D->N at 500: in dbSNP:rs34708521<li>N->K at 616: in dbSNP:rs7710284<li>E->G at 655: in dbSNP:rs12332369<li>A->V at 904: in dbSNP:rs13170082<li>A->P at 934: in dbSNP:rs13170390<li>K->N at 1482: in dbSNP:rs2277044</ul>									<li>rs34708521</li><li>rs13170390</li><li>rs7710284</li><li>rs16902381</li><li>rs2277044</li><li>rs12332369</li><li>rs13170082</li><li>rs34852821</li><li>rs34307272</li><li>rs6897513</li>	2
Q9C098	85443	<ul><li>R->Q at 24: in dbSNP rsrs56070233<li>P->L at 108: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>E->K at 422: in a colorectal adenocarcinoma sample; somatic mutation<li>S->N at 472: in a lung large cell carcinoma sample; somatic mutation<li>R->C at 554: in a lung squamous cell carcinoma sample; somatic mutation<li>G->R at 570: in a renal clear cell carcinoma sample; somatic mutation<li>V->A at 596: in a colorectal adenocarcinoma sample; somatic mutation<li>E->D at 633: in dbSNP rsrs35704209</ul>									<li>rs35704209</li><li>rs56070233</li>	2
Q9C099	85444	<ul><li>H->Q at 69: in dbSNP:rs16913589<li>T->A at 210: in dbSNP:rs3736038<li>K->N at 613: in dbSNP:rs6985225</ul>									<li>rs6985225</li><li>rs16913589</li><li>rs3736038</li>	2
Q9C0A0	85445	<ul><li>Q->H at 513: in dbSNP:rs6564343<li>D->E at 1155: in dbSNP:rs7202925<li>N->S at 1300: in dbSNP:rs34198820</ul>									<li>rs34198820</li><li>rs7202925</li><li>rs6564343</li>	2
Q9C0A6	55209	<ul><li>R->H at 77: in dbSNP:rs41387348<li>R->I at 119: in dbSNP:rs11720526<li>M->V at 1137: in dbSNP:rs13327456</ul>									<li>rs41387348</li><li>rs11720526</li><li>rs13327456</li>	2
Q9C0B1	79068	<ul><li>A->V at 405: in dbSNP:rs16952624</ul>									rs16952624	2
Q9C0B2	85452	<ul><li>S->I at 50: in dbSNP:rs13303083<li>I->V at 363: in dbSNP:rs16824588<li>G->C at 628: in dbSNP:rs3820011</ul>									<li>rs3820011</li><li>rs13303083</li><li>rs16824588</li>	2
Q9C0B6	57795	<ul><li>Y->C at 71: in dbSNP:rs16850984<li>L->V at 390: in dbSNP:rs3176443</ul>									<li>rs3176443</li><li>rs16850984</li>	2
Q9C0C2	85456	<ul><li>S->T at 322: in dbSNP:rs4939134<li>S->N at 714: in dbSNP:rs34203865</ul>									<li>rs4939134</li><li>rs34203865</li>	2
Q9C0C6	85457	<ul><li>L->F at 31: in dbSNP:rs11552006<li>T->A at 203: in dbSNP:rs759593</ul>									<li>rs759593</li><li>rs11552006</li>	2
Q9C0C9	63893	<ul><li>G->S at 1207: in dbSNP:rs3803739</ul>									rs3803739	2
Q9C0D0	221692	<ul><li>I->M at 247: in dbSNP:rs17602409</ul>									rs17602409	2
Q9C0D4	85460	<ul><li>S->P at 105: in dbSNP:rs10016702<li>S->N at 523: in dbSNP:rs9291410</ul>									<li>rs9291410</li><li>rs10016702</li>	2
Q9C0D5	85461	<ul><li>S->N at 251: in dbSNP:rs12466551<li>G->S at 1511: in dbSNP:rs13421084<li>T->A at 1573: in dbSNP:rs4664277</ul>									<li>rs4664277</li><li>rs12466551</li><li>rs13421084</li>	2
Q9C0D6	85462	<ul><li>R->C at 639: in dbSNP:rs3811833</ul>									rs3811833	2
Q9C0E2	64328	<ul><li>N->S at 149: in dbSNP:rs17320607<li>T->A at 451: in dbSNP:rs9552285</ul>									<li>rs9552285</li><li>rs17320607</li>	2
Q9C0F0	80816	<ul><li>N->S at 954: in dbSNP:rs2282632<li>M->R at 1415: in dbSNP:rs16964887<li>V->M at 1652: in dbSNP:rs17746949<li>M->V at 1708: in dbSNP:rs7232237</ul>									<li>rs7232237</li><li>rs16964887</li><li>rs2282632</li><li>rs17746949</li>	2
Q9C0F1	80817	<ul><li>G->S at 147: in dbSNP:rs4695918</ul>									rs4695918	2
Q9C0F3	80818	<ul><li>C->G at 196: in a breast cancer sample; somatic mutation</ul>										2
Q9C0G0	55628	<ul><li>N->S at 69: in dbSNP:rs3794942<li>G->R at 512: in dbSNP:rs7227263<li>N->T at 972: in dbSNP:rs948615<li>A->T at 1913: in dbSNP:rs17056248</ul>									<li>rs948615</li><li>rs17056248</li><li>rs7227263</li><li>rs3794942</li>	2
Q9C0I9	80313	<ul><li>R->C at 195: in dbSNP:rs2474329</ul>									rs2474329	2
Q9C0J1	79369	<ul><li>P->A at 6: in dbSNP:rs7136356<li>S->T at 83: in dbSNP:rs1001178<li>L->P at 87: in dbSNP:rs35203505</ul>									<li>rs1001178</li><li>rs7136356</li><li>rs35203505</li>	2
Q9C0J8	55339	<ul><li>A->S at 33: in dbSNP:rs11557686<li>P->R at 711: in dbSNP:rs12615078</ul>									<li>rs11557686</li><li>rs12615078</li>	2
Q9C0K0	64919	<ul><li>S->P at 331: in a colorectal cancer sample; somatic mutation</ul>										2
Q9C0K1	64116	<ul><li>A->T at 391: in dbSNP:rs13107325</ul>									rs13107325	2
Q9C0K7	55437	<ul><li>G->E at 155: in a metastatic melanoma sample; somatic mutation<li>P->L at 386: in dbSNP rsrs35636836</ul>									rs35636836	2
Q9GZK3		<ul><li>Q->R at 234: in allele 6M1-10*02</ul>										2
Q9GZK4	26716	<ul><li>D->N at 63: in allele 6M1-16*02<li>V->M at 223: in dbSNP:rs17184086</ul>									rs17184086	2
Q9GZK6		<ul><li>L->I at 14</ul>										2
Q9GZK7	26531	<ul><li>Y->C at 121: in dbSNP:rs16894898<li>A->T at 165: in allele 6M1-18*02; dbSNP:rs9257857</ul>									<li>rs16894898</li><li>rs9257857</li>	2
Q9GZL7	55759	<ul><li>M->V at 72<li>I->V at 75: in dbSNP:rs35212307<li>Y->C at 89<li>E->G at 286</ul>									rs35212307	2
Q9GZM5	25844	<ul><li>A->V at 5: in dbSNP:rs2231763</ul>									rs2231763	2
Q9GZM6	283160	<ul><li>R->H at 122: in dbSNP:rs2512219<li>P->L at 263: in dbSNP:rs2466620</ul>									<li>rs2512219</li><li>rs2466620</li>	2
Q9GZM7	64129	<ul><li>A->S at 69: in dbSNP:rs17497479</ul>									rs17497479	2
Q9GZN6	28968	<ul><li>S->R at 108: in dbSNP:rs35860981</ul>									rs35860981	2
Q9GZN7	79641	<ul><li>E->K at 59: in dbSNP:rs2305659</ul>									rs2305659	2
Q9GZP0	80310	<ul><li>I->V at 190: in dbSNP:rs35045740<li>D->Y at 202: in a colorectal cancer sample; somatic mutation</ul>									rs35045740	2
Q9GZP1	80023	<ul><li>L->V at 41: in dbSNP:rs11556643<li>S->C at 65: in dbSNP:rs17762763</ul>									<li>rs17762763</li><li>rs11556643</li>	2
Q9GZP7	57191	<ul><li>I->M at 103: in dbSNP:rs3746223<li>I->T at 139: in allele VN1R1*2<li>S->F at 241: in allele VN1R1*3: in dbSNP rsrs28649880<li>A->D at 269: in allele VN1R1*3</ul>							<li>Q8WN92</li><li>Q9GZP7</li>		<li>rs28649880</li><li>rs3746223</li>	2
Q9GZQ3	28991	<ul><li>A->T at 6: in dbSNP:rs1209879<li>Q->H at 69: in dbSNP:rs421427</ul>									<li>rs1209879</li><li>rs421427</li>	2
Q9GZQ4	56923	<ul><li>S->T at 298: in dbSNP:rs4958535<li>F->L at 315: in dbSNP:rs1895245<li>P->L at 383: in dbSNP:rs4958532<li>M->V at 388: in dbSNP:rs4958531<li>T->A at 395: in dbSNP:rs1363422</ul>									<li>rs1895245</li><li>rs1363422</li><li>rs4958531</li><li>rs4958532</li><li>rs4958535</li>	2
Q9GZR1	26054	<ul><li>T->M at 121: in dbSNP:rs17414086<li>E->K at 637: in dbSNP:rs1061347<li>R->P at 717: in dbSNP:rs12195603<li>A->V at 820: in dbSNP:rs34045941<li>Y->C at 1106: in dbSNP:rs9250</ul>									<li>rs12195603</li><li>rs17414086</li><li>rs9250</li><li>rs34045941</li><li>rs1061347</li>	2
Q9GZR2	57109	<ul><li>R->K at 141: in dbSNP:rs6597630<li>T->A at 283: in dbSNP:rs2285487</ul>									<li>rs2285487</li><li>rs6597630</li>	2
Q9GZR3	55997	<ul><li>R->W at 78: in dbSNP:rs2579433<li>R->C at 112: in HTX2; complete loss of activity; abnormal cell surface localization, MIM: 605376<li>R->C at 189, MIM: 605376</ul>	localization	GO:0051179			cell surface	GO:0009928,GO:0009986		Visceral heterotaxy (HTX2) [MIM:605376]	rs2579433	2
Q9GZR5	6785	<ul><li>I->T at 267<li>M->V at 299: in dbSNP:rs3812153</ul>									rs3812153	2
Q9GZR7	57062	<ul><li>E->K at 316: in dbSNP:rs35413935</ul>									rs35413935	2
Q9GZS0	64446	<ul><li>T->A at 558: in dbSNP:rs1979370</ul>									rs1979370	2
Q9GZS1	64425	<ul><li>D->H at 254: in dbSNP:rs7863488<li>V->M at 418: in dbSNP:rs7867180<li>R->K at 445: in dbSNP:rs10814571</ul>									<li>rs7867180</li><li>rs7863488</li><li>rs10814571</li>	2
Q9GZS9	23563	<ul><li>T->M at 297: in dbSNP:rs3826107</ul>									rs3826107	2
Q9GZT5	80326	<ul><li>P->T at 302: in dbSNP:rs1057306</ul>									rs1057306	2
Q9GZT6	60492	<ul><li>L->F at 10: in dbSNP:rs494791</ul>									rs494791	2
Q9GZT8	60491	<ul><li>T->I at 324: in dbSNP:rs7917</ul>									rs7917	2
Q9GZT9	54583	<ul><li>P->R at 317: in ECYT3; marked decrease in enzyme activity, MIM: 609820<li>R->H at 371: in ECYT3; decreased interaction with HIF1A and HIF2A and decreased enzyme activity, MIM: 609820</ul>							<li>Q98SW2</li><li>Q0PGG7</li><li>Q309Z6</li><li>Q9YIB9</li><li>Q99814</li><li>Q16665</li><li>Q9XTA5</li>	Erythrocytosis familial type 3 (ECYT3) [MIM:609820]		2
Q9GZU0	81688	<ul><li>W->C at 116: in dbSNP:rs34238213<li>R->S at 140: in dbSNP:rs35050510</ul>									<li>rs35050510</li><li>rs34238213</li>	2
Q9GZU1	57192	<ul><li>L->P at 106: in MLIV, MIM: 252650<li>T->P at 232: in MLIV; fails to localize to late endosomes, MIM: 252650<li>V->L at 331: in a breast cancer sample; somatic mutation, MIM: 252650<li>D->Y at 362: in MLIV; affects channel activity, MIM: 252650<li>R->C at 403: in MLIV, MIM: 252650<li>Missing  at 408: in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes, MIM: 252650<li>V->L at 446: in MLIV; does not affect channel activity; affects channel inhibition by low pH, MIM: 252650<li>L->P at 447: in MLIV, MIM: 252650<li>F->L at 465: in MLIV; still localizes to late endosomes, MIM: 252650</ul>					late endosomes	GO:0005770		Mucolipidosis type IV (MLIV) [MIM:252650]		2
Q9GZU2	5178	<ul><li>A->T at 235: in dbSNP:rs2191432<li>R->H at 594: in a colorectal cancer sample; somatic mutation<li>E->G at 624: in dbSNP:rs36016896<li>V->L at 839: in dbSNP:rs7251798<li>N->S at 947: in dbSNP:rs35851866<li>D->G at 983: in dbSNP:rs10412932<li>A->V at 1456: in dbSNP:rs34831553<li>R->H at 1576: in dbSNP:rs34051133<li>R->L at 1576</ul>									<li>rs35851866</li><li>rs2191432</li><li>rs7251798</li><li>rs10412932</li><li>rs36016896</li><li>rs34831553</li><li>rs34051133</li>	2
Q9GZU5	60506	<ul><li>Missing  at 29-36: in CSNB1A<li>C->S at 31: in CSNB1A, MIM: 310500<li>Missing  at 101: in CSNB1A, MIM: 310500<li>Missing  at 114-118: in CSNB1A, MIM: 310500<li>A->P at 143: in CSNB1A, MIM: 310500<li>P->L at 151: in CSNB1A, MIM: 310500<li>L->LSVPERLL at 155: in CSNB1A, MIM: 310500<li>P->R at 175: in CSNB1A, MIM: 310500<li>L->P at 184: in CSNB1A, MIM: 310500<li>A->K at 187: in CSNB1A; requires 2 nucleotide substitutions, MIM: 310500<li>R->RLLR at 207: in CSNB1A, MIM: 310500<li>R->RCLR at 209: in CSNB1A, MIM: 310500<li>L->Q at 213: in CSNB1A, MIM: 310500<li>N->S at 216: in CSNB1A, MIM: 310500<li>L->P at 232: in CSNB1A, MIM: 310500<li>Missing  at 243-246: in CSNB1A, MIM: 310500<li>N->K at 264: in CSNB1A, MIM: 310500<li>L->P at 285: in CSNB1A, MIM: 310500<li>F->S at 298: in CSNB1A, MIM: 310500<li>L->P at 307: in CSNB1A, MIM: 310500<li>N->S at 312: in CSNB1A, MIM: 310500<li>L->P at 347: in CSNB1A, MIM: 310500<li>G->V at 370: in CSNB1A, MIM: 310500<li>A->G at 406: in dbSNP:rs34169326, MIM: 310500</ul>								Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	rs34169326	2
Q9GZU7	58190	<ul><li>A->T at 56: in dbSNP:rs2227249</ul>									rs2227249	2
Q9GZV1	26287	<ul><li>A->T at 62: in dbSNP:rs7094973</ul>									rs7094973	2
Q9GZV3	60482	<ul><li>I->V at 89: 40% reduction in choline uptake rate; found in 0.06 of Ashkenazi Jews; dbSNP:rs1013940</ul>									rs1013940	2
Q9GZV4	56648	<ul><li>E->D at 42</ul>										2
Q9GZV8	63978	<ul><li>K->E at 244: in dbSNP:rs3750228</ul>									rs3750228	2
Q9GZV9	8074	<ul><li>S->G at 71: in HFTC; only the C-terminal fragment is secreted, whereas the intact protein is retained in the Golgi complex, MIM: 211900<li>R->Q at 176: in ADHR, MIM: 193100<li>R->Q at 179: in ADHR; C-terminal processing is abolished, MIM: 193100<li>R->W at 179: in ADHR; C-terminal processing is abolished: in dbSNP rsrs28937882, MIM: 193100<li>P->S at 195: in dbSNP:rs13312793, MIM: 193100<li>T->M at 239: in dbSNP:rs7955866, MIM: 193100</ul>					Golgi complex	GO:0005794	P30518	<li>Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]</li><li>Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]</li>	<li>rs28937882</li><li>rs13312793</li><li>rs7955866</li>	2
Q9GZW5		<ul><li>P->T at 110: in dbSNP:rs16974462<li>A->T at 185: in dbSNP:rs698620</ul>									<li>rs698620</li><li>rs16974462</li>	2
Q9GZW8	58475	<ul><li>E->K at 34: in dbSNP:rs2233241<li>P->H at 112: in dbSNP:rs2233249<li>S->F at 157: in dbSNP:rs2233251</ul>									<li>rs2233249</li><li>rs2233251</li><li>rs2233241</li>	2
Q9GZX3	4166	<ul><li>L->P at 15: in MCD, MIM: 217800<li>L->R at 22: in MCD, MIM: 217800<li>P->S at 31: in MCD, MIM: 217800<li>H->Y at 42: in MCD, MIM: 217800<li>R->C at 50: in MCD; abolishes ability to sulfate keratan; dbSNP:rs28937877, MIM: 217800<li>S->L at 51: in MCD, MIM: 217800<li>G->D at 52: in MCD, MIM: 217800<li>S->L at 53: in MCD, MIM: 217800<li>L->P at 59: in MCD, MIM: 217800<li>N->T at 61: in MCD, MIM: 217800<li>V->L at 66: in MCD, MIM: 217800<li>Y->H at 68: in MCD, MIM: 217800<li>M->L at 70: in MCD, MIM: 217800<li>P->S at 72: in MCD, MIM: 217800<li>V->M at 76: in MCD, MIM: 217800<li>R->H at 93: in MCD, MIM: 217800<li>R->P at 97: in MCD, MIM: 217800<li>S->W at 98: in MCD, MIM: 217800<li>C->G at 102: in MCD, MIM: 217800<li>C->Y at 102: in MCD, MIM: 217800<li>M->V at 104: in MCD, MIM: 217800<li>F->S at 107: in MCD, MIM: 217800<li>Y->C at 110: in MCD, MIM: 217800<li>F->L at 121: in MCD, MIM: 217800<li>Q->P at 122: in MCD, MIM: 217800<li>R->C at 127: in MCD, MIM: 217800<li>A->V at 128: in MCD, MIM: 217800<li>S->P at 131: in MCD, MIM: 217800<li>L->P at 152: in MCD, MIM: 217800<li>R->G at 162: in MCD, MIM: 217800<li>R->P at 166: in MCD, MIM: 217800<li>K->R at 174: in MCD; abolishes ability to sulfate keratan; dbSNP:rs28937878: in dbSNP rsrs28937877, MIM: 217800<li>R->H at 177: in MCD, MIM: 217800<li>V->E at 198: in MCD, MIM: 217800<li>L->R at 200: in MCD; dbSNP:rs28937879, MIM: 217800<li>R->S at 202: in MCD, MIM: 217800<li>D->E at 203: in MCD; abolishes ability to sulfate keratan: in dbSNP rsrs28937878, MIM: 217800<li>P->Q at 204: in MCD, MIM: 217800<li>R->L at 205: in MCD, MIM: 217800<li>R->Q at 205: in MCD, MIM: 217800<li>A->T at 206: in MCD, MIM: 217800<li>A->V at 206: in MCD, MIM: 217800<li>S->F at 210: in MCD, MIM: 217800<li>R->Q at 211: in MCD, MIM: 217800<li>R->W at 211: in MCD; abolishes ability to sulfate keratan, MIM: 217800<li>A->T at 217: in MCD; abolishes ability to sulfate keratan, MIM: 217800<li>D->E at 221: in MCD, MIM: 217800<li>D->Y at 221: in MCD, MIM: 217800<li>H->P at 249: in MCD, MIM: 217800<li>Y->C at 268: in MCD, MIM: 217800<li>E->K at 274: in MCD; abolishes ability to sulfate keratan, MIM: 217800<li>L->P at 276: in MCD, MIM: 217800<li>Y->D at 358: in MCD, MIM: 217800<li>N->D at 369: in dbSNP:rs35036798, MIM: 217800</ul>							<li>Q99J39</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	Macular corneal dystrophy (MCD) [MIM:217800]	<li>rs28937879</li><li>rs28937877</li><li>rs28937878</li><li>rs35036798</li>	2
Q9GZX5	59348	<ul><li>M->I at 37: in dbSNP:rs4987241<li>L->P at 66: in dbSNP:rs2278420<li>I->T at 69: in dbSNP:rs4987042<li>R->C at 132: in dbSNP:rs28997584<li>E->K at 406: in dbSNP:rs3764539<li>S->P at 472: in dbSNP:rs4986771<li>S->R at 501: in dbSNP:rs2278415<li>V->I at 524: in dbSNP:rs4988337</ul>									<li>rs4988337</li><li>rs2278415</li><li>rs2278420</li><li>rs3764539</li><li>rs28997584</li><li>rs4987042</li><li>rs4987241</li><li>rs4986771</li>	2
Q9GZX6	50616	<ul><li>S->G at 158: in dbSNP:rs2227507</ul>									rs2227507	2
Q9GZX7	57379	<ul><li>R->W at 24: in HIGM2, MIM: 605258<li>R->C at 25, MIM: 605258<li>W->R at 80: in HIGM2, MIM: 605258<li>L->P at 106: in HIGM2, MIM: 605258<li>M->V at 139: in HIGM2, MIM: 605258<li>F->S at 151: in HIGM2, MIM: 605258</ul>								Autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]		2
Q9GZY8	56947	<ul><li>S->C at 7: in dbSNP:rs3211097<li>S->I at 7: in dbSNP:rs3211098<li>E->K at 29: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3211097</li><li>rs3211098</li>	2
Q9GZZ0	3231	<ul><li>A->T at 296: in dbSNP:rs6710142</ul>									rs6710142	2
Q9GZZ6	57053	<ul><li>E->A at 355: in dbSNP:rs2231547</ul>									rs2231547	2
Q9H000	23609	<ul><li>R->Q at 388: in dbSNP:rs5746260</ul>									rs5746260	2
Q9H008		<ul><li>Q->R at 94: in dbSNP:rs6597801</ul>									rs6597801	2
Q9H009	342538	<ul><li>V->I at 64: in dbSNP:rs17531723</ul>									rs17531723	2
Q9H013	8728	<ul><li>R->Q at 134: in a colorectal cancer sample; somatic mutation<li>A->T at 299: in a colorectal cancer sample; somatic mutation</ul>										2
Q9H015	6583	<ul><li>I->T at 306: in dbSNP:rs272893<li>G->E at 462: abrogates TEA transport activity; dbSNP:rs4646201<li>L->F at 503: in CD; reduces the ability to transport carnitine; dbSNP:rs1050152, MIM: 266600</ul>	transport	GO:0006810						Crohn disease (CD) [MIM:266600]	<li>rs1050152</li><li>rs4646201</li><li>rs272893</li>	2
Q9H019	56181	<ul><li>P->S at 58: in dbSNP:rs35448678</ul>									rs35448678	2
Q9H040	83932	<ul><li>P->L at 296: in dbSNP:rs2437150</ul>									rs2437150	2
Q9H061	84233	<ul><li>R->H at 64: in dbSNP:rs11556797</ul>									rs11556797	2
Q9H069	83450	<ul><li>R->Q at 159: in dbSNP:rs8072048<li>R->W at 191: in dbSNP:rs4584886<li>A->V at 364: in dbSNP:rs11656629</ul>									<li>rs8072048</li><li>rs4584886</li><li>rs11656629</li>	2
Q9H078	81570	<ul><li>R->T at 295: in dbSNP:rs7938203</ul>									rs7938203	2
Q9H081	79003	<ul><li>M->V at 21: in dbSNP:rs16954781</ul>									rs16954781	2
Q9H089	55341	<ul><li>L->P at 92: in dbSNP:rs34423045<li>K->E at 267: in dbSNP:rs1675953</ul>									<li>rs34423045</li><li>rs1675953</li>	2
Q9H091	84225	<ul><li>R->H at 401: in dbSNP:rs35005394</ul>									rs35005394	2
Q9H093	81788	<ul><li>T->S at 309: in dbSNP rsrs55745939<li>R->L at 341: in dbSNP rsrs35208615<li>K->R at 503: in an ovarian Endometrioid carcinoma sample; somatic mutation<li>A->V at 516: in dbSNP rsrs35070935<li>G->E at 541: in a breast pleomorphic lobular carcinoma sample; somatic mutation</ul>									<li>rs55745939</li><li>rs35070935</li><li>rs35208615</li>	2
Q9H094	84224	<ul><li>Y->C at 114: in dbSNP:rs1827293<li>R->Q at 198: in dbSNP:rs16825377<li>D->E at 444: in dbSNP:rs12043777<li>L->V at 459: in dbSNP:rs12034222</ul>									<li>rs16825377</li><li>rs12034222</li><li>rs1827293</li><li>rs12043777</li>	2
Q9H095	84223	<ul><li>A->D at 112: in dbSNP:rs9880989</ul>									rs9880989	2
Q9H0A6	140545	<ul><li>R->Q at 288: in dbSNP:rs2302148<li>H->Q at 291: in dbSNP:rs2302147<li>R->C at 307: in dbSNP:rs2302146</ul>									<li>rs2302148</li><li>rs2302147</li><li>rs2302146</li>	2
Q9H0B3	80726	<ul><li>L->P at 44: in dbSNP:rs1469023<li>A->V at 50: in dbSNP:rs3810431<li>C->R at 197: in dbSNP:rs12609001<li>L->V at 235: in dbSNP:rs8103906<li>S->T at 285: in dbSNP:rs8104533<li>M->T at 359: in dbSNP:rs3746186<li>T->A at 524: in dbSNP:rs12462974<li>T->P at 610: in dbSNP:rs2277922<li>A->V at 614: in dbSNP:rs16982285<li>Y->F at 648: in dbSNP:rs8110972<li>P->R at 823: in dbSNP:rs12608777<li>P->L at 835: in dbSNP:rs2277921<li>P->H at 908: in dbSNP:rs999813</ul>									<li>rs12462974</li><li>rs16982285</li><li>rs2277921</li><li>rs2277922</li><li>rs3810431</li><li>rs12608777</li><li>rs8104533</li><li>rs8110972</li><li>rs8103906</li><li>rs3746186</li><li>rs1469023</li><li>rs12609001</li><li>rs999813</li>	2
Q9H0B6	64837	<ul><li>P->S at 517: in dbSNP:rs2276036</ul>									rs2276036	2
Q9H0B8	83716	<ul><li>S->G at 105: in dbSNP:rs12051468<li>T->S at 322: in dbSNP:rs721005</ul>									<li>rs12051468</li><li>rs721005</li>	2
Q9H0C1	84217	<ul><li>L->F at 316: in dbSNP:rs1034268</ul>									rs1034268	2
Q9H0C3	84216	<ul><li>R->H at 90: in dbSNP:rs1948516</ul>									rs1948516	2
Q9H0D2	84215	<ul><li>P->S at 486: in dbSNP:rs3810320<li>S->L at 712: in a breast cancer sample; somatic mutation<li>K->E at 791: in dbSNP:rs34984302<li>T->S at 795: in dbSNP:rs3826835</ul>									<li>rs3826835</li><li>rs34984302</li><li>rs3810320</li>	2
Q9H0D6	22803	<ul><li>R->M at 743: in dbSNP:rs6137324<li>R->C at 925: in dbSNP:rs6047420</ul>									<li>rs6047420</li><li>rs6137324</li>	2
Q9H0E2	54472	<ul><li>A->S at 222: in dbSNP:rs5744015</ul>									rs5744015	2
Q9H0E7	84101	<ul><li>A->T at 91: in dbSNP:rs3812813</ul>									rs3812813	2
Q9H0E9	10902	<ul><li>T->M at 490: in dbSNP:rs11750814<li>L->P at 896: in dbSNP:rs6883021<li>R->Q at 1198: in dbSNP:rs412051</ul>									<li>rs412051</li><li>rs11750814</li><li>rs6883021</li>	2
Q9H0F6	81858	<ul><li>S->T at 282: in dbSNP:rs11541804<li>P->S at 294: in dbSNP:rs34674752<li>P->R at 311: in dbSNP:rs35844464</ul>									<li>rs11541804</li><li>rs35844464</li><li>rs34674752</li>	2
Q9H0F7	84100	<ul><li>T->M at 31: in BBS3, MIM: 209900<li>T->R at 31: in BBS3, MIM: 209900<li>G->A at 169: in BBS3, MIM: 209900<li>L->W at 170: in BBS3, MIM: 209900</ul>								Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]		2
Q9H0G5	84081	<ul><li>K->T at 86: in dbSNP:rs11544945</ul>									rs11544945	2
Q9H0H0	57508	<ul><li>H->N at 768: in dbSNP:rs606072</ul>									rs606072	2
Q9H0H3	64410	<ul><li>V->I at 250: in dbSNP:rs35582838<li>M->L at 257: in dbSNP:rs36031133</ul>									<li>rs36031133</li><li>rs35582838</li>	2
Q9H0I3	29070	<ul><li>D->E at 4: in dbSNP:rs8043587<li>S->T at 6: in dbSNP:rs8043590</ul>									<li>rs8043590</li><li>rs8043587</li>	2
Q9H0I9	84076	<ul><li>R->Q at 442: in dbSNP:rs3811750<li>Q->H at 590: in dbSNP:rs11735477</ul>									<li>rs11735477</li><li>rs3811750</li>	2
Q9H0J4	84074	<ul><li>L->S at 202: in dbSNP:rs6501880<li>I->T at 630: in dbSNP:rs6501878<li>H->Y at 906: in dbSNP:rs2279054<li>H->R at 974: in dbSNP:rs2279053<li>E->Q at 1036: in dbSNP:rs2279052</ul>									<li>rs2279052</li><li>rs2279053</li><li>rs2279054</li><li>rs6501878</li><li>rs6501880</li>	2
Q9H0J9	64761	<ul><li>V->I at 293: in dbSNP:rs34111764<li>V->M at 463: in dbSNP:rs35456446<li>A->V at 620: in dbSNP:rs17161356</ul>									<li>rs17161356</li><li>rs35456446</li><li>rs34111764</li>	2
Q9H0K1	23235	<ul><li>T->I at 458: in dbSNP rsrs35789057<li>R->Q at 809: in dbSNP rsrs34223841<li>P->L at 825: in dbSNP rsrs55889697<li>P->L at 828: in dbSNP:rs45520245<li>P->S at 829: in dbSNP:rs45586732</ul>									<li>rs34223841</li><li>rs55889697</li><li>rs45586732</li><li>rs35789057</li><li>rs45520245</li>	2
Q9H0K4	81492	<ul><li>A->V at 50: in dbSNP:rs12459916</ul>									rs12459916	2
Q9H0K6	83448	<ul><li>I->M at 92: in dbSNP:rs33999797<li>K->E at 264: in dbSNP:rs1057190<li>I->V at 343: in dbSNP:rs34668377</ul>									<li>rs1057190</li><li>rs34668377</li><li>rs33999797</li>	2
Q9H0M0	11059	<ul><li>G->V at 852: in dbSNP:rs1059901</ul>									rs1059901	2
Q9H0M4	55063	<ul><li>T->A at 153: in dbSNP:rs6465770<li>E->K at 365: in dbSNP:rs6970350</ul>									<li>rs6970350</li><li>rs6465770</li>	2
Q9H0M5	90592	<ul><li>E->G at 269: in dbSNP:rs12327617<li>L->V at 321: in dbSNP:rs17001730</ul>									<li>rs17001730</li><li>rs12327617</li>	2
Q9H0N0	84084	<ul><li>A->T at 159</ul>										2
Q9H0P0	51251	<ul><li>D->V at 137: in P5N deficiency; may alter protein structure, MIM: 266120<li>L->P at 181: in P5N deficiency; may alter protein structure and markedly decreases activity, MIM: 266120<li>N->S at 229: in P5N deficiency; markedly decreases activity, MIM: 266120<li>G->R at 280: in P5N deficiency; markedly decreases activity, MIM: 266120</ul>								P5N deficiency [MIM:266120]		2
Q9H0R4	84064	<ul><li>R->Q at 85: in dbSNP:rs7230131</ul>									rs7230131	2
Q9H0R5	2635	<ul><li>R->Q at 221: in dbSNP:rs4656078<li>R->W at 225: in dbSNP:rs4656077<li>T->S at 347: in dbSNP:rs3188433<li>V->M at 469: in dbSNP:rs10493821<li>C->R at 491: in dbSNP:rs17433780<li>V->A at 558: in dbSNP:rs11808228</ul>									<li>rs3188433</li><li>rs4656078</li><li>rs4656077</li><li>rs11808228</li><li>rs10493821</li><li>rs17433780</li>	2
Q9H0R6	55278	<ul><li>A->V at 11: in dbSNP:rs36016898<li>N->S at 263: in dbSNP:rs34221917</ul>									<li>rs36016898</li><li>rs34221917</li>	2
Q9H0T7	64284	<ul><li>V->A at 19: in dbSNP:rs3751112<li>S->G at 184: in dbSNP:rs34311889<li>L->P at 191: in dbSNP:rs2280289</ul>									<li>rs2280289</li><li>rs3751112</li><li>rs34311889</li>	2
Q9H0U3	84061	<ul><li>V->G at 311: in MRX95, MIM: 300716</ul>								Mental retardation X-linked type 95 (MRX95) [MIM:300716]		2
Q9H0U6	29074	<ul><li>R->Q at 6: in dbSNP:rs1128670</ul>									rs1128670	2
Q9H0U9	7259	<ul><li>P->S at 62: in dbSNP:rs3828743<li>A->P at 74: in dbSNP:rs3749895<li>A->T at 181: in dbSNP:rs3749894</ul>									<li>rs3828743</li><li>rs3749894</li><li>rs3749895</li>	2
Q9H0W5	83987	<ul><li>K->N at 507: in dbSNP:rs2279517</ul>									rs2279517	2
Q9H0W7	83591	<ul><li>T->M at 170: in dbSNP:rs17110155</ul>									rs17110155	2
Q9H0X9	114879	<ul><li>A->T at 774: in dbSNP:rs2277301</ul>									rs2277301	2
Q9H0Y0	83734	<ul><li>S->P at 62: in dbSNP:rs3734114<li>T->M at 212: in dbSNP:rs1864183<li>P->H at 220: in dbSNP:rs1864182</ul>									<li>rs1864183</li><li>rs1864182</li><li>rs3734114</li>	2
Q9H0Z9	55544	<ul><li>A->V at 178: in dbSNP:rs1065288<li>A->D at 200: in dbSNP:rs1065289<li>P->H at 212: in dbSNP:rs1065290</ul>									<li>rs1065290</li><li>rs1065289</li><li>rs1065288</li>	2
Q9H114	128817	<ul><li>T->A at 59: in dbSNP:rs7361799<li>Y->F at 62: in dbSNP:rs16985357<li>R->K at 66: in dbSNP:rs17757442<li>W->R at 88: in dbSNP:rs3746736<li>T->M at 96: in dbSNP:rs3746737</ul>									<li>rs16985357</li><li>rs17757442</li><li>rs3746737</li><li>rs7361799</li><li>rs3746736</li>	2
Q9H115	63908	<ul><li>A->T at 61: in dbSNP:rs6036399</ul>									rs6036399	2
Q9H116	64412	<ul><li>N->S at 190: in dbSNP:rs3810574<li>Q->P at 275: in dbSNP:rs6048760<li>K->N at 318: in dbSNP:rs6114068<li>D->N at 667: in dbSNP:rs6048766</ul>									<li>rs6048766</li><li>rs6114068</li><li>rs3810574</li><li>rs6048760</li>	2
Q9H147	116092	<ul><li>A->T at 183: in dbSNP:rs408911</ul>									rs408911	2
Q9H156	84631	<ul><li>S->P at 601: in dbSNP:rs2295336</ul>									rs2295336	2
Q9H158	56135	<ul><li>L->V at 498: in dbSNP:rs246074</ul>									rs246074	2
Q9H161	60529	<ul><li>T->R at 35: in dbSNP rsrs3824915<li>S->P at 102: in dbSNP rsrs12421995<li>R->Q at 218: in PFM2, MIM: 609597<li>R->P at 272: in PFM2, MIM: 609597</ul>							Q9NQX1	Parietal foramina 2 (PFM2) [MIM:609597]	<li>rs3824915</li><li>rs12421995</li>	2
Q9H165	53335	<ul><li>S->F at 142: in a breast cancer sample; somatic mutation</ul>										2
Q9H171	81030	<ul><li>E->K at 88: in dbSNP:rs2073145</ul>									rs2073145	2
Q9H172	64137	<ul><li>P->L at 352: in dbSNP:rs35060365</ul>									rs35060365	2
Q9H173	64374	<ul><li>Q->R at 80: in dbSNP:rs35581768</ul>									rs35581768	2
Q9H175	81566	<ul><li>T->M at 436: in dbSNP:rs11542510</ul>									rs11542510	2
Q9H190	27111	<ul><li>V->M at 182: in dbSNP:rs2273959<li>R->Q at 191: in a colorectal cancer sample; somatic mutation; dbSNP:rs35367003<li>R->C at 223: in dbSNP:rs1048621<li>G->R at 242: in dbSNP:rs4814111</ul>									<li>rs1048621</li><li>rs35367003</li><li>rs4814111</li><li>rs2273959</li>	2
Q9H195		<ul><li>A->V at 698<li>H->Y at 877</ul>										2
Q9H1B5	64132	<ul><li>G->R at 60: in dbSNP:rs739990<li>R->T at 305: in dbSNP:rs12451299<li>T->R at 801: in dbSNP:rs6504649</ul>									<li>rs739990</li><li>rs6504649</li><li>rs12451299</li>	2
Q9H1C3	83468	<ul><li>A->T at 37: in dbSNP:rs17035120</ul>									rs17035120	2
Q9H1C7	84418	<ul><li>C->S at 90: in dbSNP:rs17852164</ul>									rs17852164	2
Q9H1D0	55503	<ul><li>C->R at 157: in dbSNP:rs4987657<li>R->Q at 359: in dbSNP:rs4987665<li>M->V at 378: in dbSNP:rs4987667<li>M->T at 681: in dbSNP:rs4987682</ul>									<li>rs4987667</li><li>rs4987665</li><li>rs4987682</li><li>rs4987657</li>	2
Q9H1E1	84659	<ul><li>P->A at 103: in dbSNP:rs1263872<li>Y->H at 116: in dbSNP:rs1243469</ul>									<li>rs1243469</li><li>rs1263872</li>	2
Q9H1E3	64710	<ul><li>E->G at 119: in dbSNP:rs3207505<li>L->P at 137: in dbSNP:rs17355035</ul>									<li>rs17355035</li><li>rs3207505</li>	2
Q9H1E5	56255	<ul><li>Y->C at 215: in dbSNP:rs1135711<li>G->R at 303: in dbSNP:rs2076015</ul>									<li>rs1135711</li><li>rs2076015</li>	2
Q9H1H1	149699	<ul><li>L->V at 56: in dbSNP:rs17826038</ul>									rs17826038	2
Q9H1H9	63971	<ul><li>M->V at 1415: in dbSNP:rs17689215<li>F->S at 1600: in dbSNP:rs12211658</ul>									<li>rs12211658</li><li>rs17689215</li>	2
Q9H1I8	84164	<ul><li>R->C at 96: in dbSNP:rs1894473<li>V->I at 123: in dbSNP:rs11549795<li>D->H at 407: in dbSNP:rs28265<li>P->S at 423: in dbSNP:rs36571<li>R->Q at 509: in dbSNP:rs4823054<li>D->G at 546: in dbSNP:rs34833047<li>E->K at 588: in dbSNP:rs34062345<li>R->L at 639: in dbSNP:rs6006259</ul>									<li>rs36571</li><li>rs34833047</li><li>rs28265</li><li>rs6006259</li><li>rs34062345</li><li>rs4823054</li><li>rs11549795</li><li>rs1894473</li>	2
Q9H1K0	64145	<ul><li>L->P at 591: in dbSNP:rs9868848<li>T->A at 641: in dbSNP:rs9851219<li>M->I at 722: in dbSNP:rs9830744</ul>									<li>rs9830744</li><li>rs9868848</li><li>rs9851219</li>	2
Q9H1L0	128826	<ul><li>V->A at 27: in dbSNP:rs6062251</ul>									rs6062251	2
Q9H1M0	54830	<ul><li>F->L at 54: in dbSNP:rs16987290<li>T->I at 177: in dbSNP:rs1298577</ul>									<li>rs16987290</li><li>rs1298577</li>	2
Q9H1M3	140881	<ul><li>T->S at 149: in dbSNP:rs1053783</ul>									rs1053783	2
Q9H1M4	140850	<ul><li>G->R at 31: in dbSNP:rs12624954<li>R->S at 71: in dbSNP:rs16995685</ul>									<li>rs12624954</li><li>rs16995685</li>	2
Q9H1P6	128602	<ul><li>R->H at 26: in dbSNP:rs16984945<li>I->V at 99: in dbSNP:rs17440813</ul>									<li>rs16984945</li><li>rs17440813</li>	2
Q9H1Q7	64773	<ul><li>Q->H at 22: in dbSNP:rs2274670</ul>									rs2274670	2
Q9H1R3	85366	<ul><li>A->V at 87: in CMH, MIM: 192600<li>A->E at 95: in CMH, MIM: 192600<li>A->V at 117: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 192600<li>G->V at 142: in dbSNP rsrs56385445, MIM: 192600<li>P->A at 144: in dbSNP rsrs34396614, MIM: 192600<li>K->N at 324: in dbSNP rsrs34146416, MIM: 192600</ul>								Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]	<li>rs56385445</li><li>rs34396614</li><li>rs34146416</li>	2
Q9H1U9	92014	<ul><li>T->M at 205: in a breast cancer sample; somatic mutation</ul>										2
Q9H1X1	221421	<ul><li>V->I at 261: in dbSNP:rs16896629<li>Missing  at 268: in CILD12</ul>									rs16896629	2
Q9H1Y0	9474	<ul><li>K->M at 58: in a colorectal cancer sample; somatic mutation</ul>										2
Q9H1Y3	23596	<ul><li>A->V at 167: in dbSNP:rs12072790<li>V->I at 183: in dbSNP:rs2273712</ul>									<li>rs2273712</li><li>rs12072790</li>	2
Q9H1Z8	84417	<ul><li>A->T at 52: in dbSNP:rs10187689</ul>									rs10187689	2
Q9H205	144125	<ul><li>V->L at 187: in dbSNP:rs2659880</ul>									rs2659880	2
Q9H207	144124	<ul><li>K->M at 41: in dbSNP:rs7949377</ul>									rs7949377	2
Q9H208	341276	<ul><li>A->T at 134: in dbSNP:rs2741764<li>H->R at 207: in dbSNP:rs10839631<li>I->T at 240: in dbSNP:rs10839632<li>K->T at 258: in dbSNP:rs7926083</ul>									<li>rs2741764</li><li>rs7926083</li><li>rs10839631</li><li>rs10839632</li>	2
Q9H209	283297	<ul><li>R->H at 221: in dbSNP:rs7938371<li>L->F at 246: in dbSNP:rs16919049<li>R->Q at 262: in dbSNP:rs10839635</ul>									<li>rs10839635</li><li>rs7938371</li><li>rs16919049</li>	2
Q9H210	120776	<ul><li>S->P at 148: in dbSNP:rs1965209<li>I->M at 163: in dbSNP:rs1965207<li>I->T at 163: in dbSNP:rs1965208<li>M->T at 202: in dbSNP:rs2741804</ul>									<li>rs2741804</li><li>rs1965208</li><li>rs1965209</li><li>rs1965207</li>	2
Q9H211	81620	<ul><li>A->V at 135: in dbSNP:rs3218725<li>R->C at 172: in dbSNP:rs3218727<li>R->C at 234: in dbSNP:rs507329<li>T->A at 262: in dbSNP:rs480727<li>E->A at 456: in dbSNP:rs3218729<li>A->V at 537: in dbSNP:rs3218721</ul>									<li>rs3218727</li><li>rs507329</li><li>rs3218729</li><li>rs3218725</li><li>rs3218721</li><li>rs480727</li>	2
Q9H221	64241	<ul><li>D->H at 19: associated significantly with GBD4; dbSNP:rs11887534<li>Y->C at 54: in dbSNP:rs4148211<li>R->H at 184: in sitosterolemia, MIM: 210250<li>V->M at 210: in dbSNP:rs9282574, MIM: 210250<li>P->T at 231: in sitosterolemia, MIM: 210250<li>E->K at 238: in dbSNP:rs34754243, MIM: 210250<li>A->V at 259: in dbSNP:rs35518570, MIM: 210250<li>R->Q at 263: in sitosterolemia, MIM: 210250<li>T->K at 400: in dbSNP:rs4148217, MIM: 210250<li>R->H at 405: in sitosterolemia, MIM: 210250<li>L->P at 501: in sitosterolemia, MIM: 210250<li>R->S at 543: in sitosterolemia, MIM: 210250<li>Missing  at 570: in sitosterolemia, MIM: 210250<li>L->P at 572: in sitosterolemia, MIM: 210250<li>G->E at 574: in sitosterolemia, MIM: 210250<li>G->R at 574: in sitosterolemia: in dbSNP rsrs36209700, MIM: 210250<li>G->R at 575: in dbSNP rsrs36209700, MIM: 210250<li>L->R at 596: in sitosterolemia, MIM: 210250<li>V->A at 632: in dbSNP:rs6544718, MIM: 210250<li>Y->F at 641, MIM: 210250<li>M->V at 655: in dbSNP:rs9282573, MIM: 210250</ul>								Sitosterolemia [MIM:210250]	<li>rs4148211</li><li>rs35518570</li><li>rs36209700</li><li>rs4148217</li><li>rs34754243</li><li>rs9282574</li><li>rs11887534</li><li>rs9282573</li><li>rs6544718</li>	2
Q9H222	64240	<ul><li>R->C at 50: in dbSNP:rs6756629<li>E->Q at 146: in sitosterolemia, MIM: 210250<li>R->H at 389: in sitosterolemia, MIM: 210250<li>R->H at 419: in sitosterolemia, MIM: 210250<li>R->P at 419: in sitosterolemia, MIM: 210250<li>N->K at 437: in sitosterolemia, MIM: 210250<li>T->S at 517: in dbSNP:rs17031672, MIM: 210250<li>I->V at 523, MIM: 210250<li>R->S at 550: in sitosterolemia, MIM: 210250<li>C->Y at 600, MIM: 210250<li>Q->E at 604: in dbSNP:rs6720173, MIM: 210250<li>M->V at 622, MIM: 210250</ul>								Sitosterolemia [MIM:210250]	<li>rs6756629</li><li>rs6720173</li><li>rs17031672</li>	2
Q9H223	30844	<ul><li>V->I at 154: in dbSNP:rs11549015</ul>									rs11549015	2
Q9H227	57733	<ul><li>D->N at 106: rare polymorphism<li>M->I at 172: in dbSNP:rs36090352<li>R->P at 213: in dbSNP:rs17612341<li>C->R at 354: in dbSNP:rs16873108</ul>									<li>rs16873108</li><li>rs17612341</li><li>rs36090352</li>	2
Q9H228	53637	<ul><li>L->Q at 318: in dbSNP:rs35483143</ul>									rs35483143	2
Q9H237	64840	<ul><li>G->R at 60: in FDH, MIM: 305600<li>R->G at 365: in FDH, MIM: 305600</ul>							<li>P79896</li><li>P11766</li><li>Q570B4</li><li>Q03134</li><li>P32771</li><li>O19053</li><li>P19854</li><li>P25437</li><li>P12711</li><li>P80467</li><li>Q9S7E4</li><li>P93629</li><li>P73138</li><li>P81600</li><li>P81601</li><li>Q07103</li><li>P33677</li><li>P72324</li><li>Q07511</li><li>P80360</li><li>Q96533</li><li>Q06099</li><li>P44557</li><li>O74685</li><li>P46415</li><li>P33160</li><li>O74540</li><li>P47734</li><li>P80572</li><li>P39450</li><li>Q17335</li><li>P46154</li><li>Q9ZRI8</li><li>P81431</li><li>P28474</li><li>P78870</li><li>P93436</li>	Focal dermal hypoplasia (FDH) [MIM:305600]		2
Q9H244	64805	<ul><li>R->Q at 256: in bleeding disorder, MIM: 609821<li>R->W at 265: in bleeding disorder, MIM: 609821<li>E->G at 330: in dbSNP:rs16846673, MIM: 609821</ul>								Bleeding disorder [MIM:609821]	rs16846673	2
Q9H251		<ul><li>R->C at 3: in dbSNP:rs7902757<li>D->G at 124: in DFNB12, MIM: 601386<li>P->L at 240: in DFNB12, MIM: 601386<li>E->K at 247: in USH1D, MIM: 601067<li>R->Q at 301: in DFNB12, MIM: 601386<li>A->T at 366: in USH1D, MIM: 601067<li>N->S at 452: in DFNB12, MIM: 601386<li>L->Q at 480: in DFNB12, MIM: 601386<li>A->P at 484: in USH1D, MIM: 601067<li>G->A at 490: in dbSNP:rs1227049, MIM: 601067<li>S->N at 496: in dbSNP:rs10999947, MIM: 601067<li>R->Q at 582: in DFNB12, MIM: 601386<li>V->I at 746, MIM: 601386<li>H->Y at 755: in USH1D, MIM: 601067<li>S->G at 944, MIM: 601067<li>E->K at 960, MIM: 601067<li>D->N at 990: in DFNB12, MIM: 601386<li>R->W at 1060: in DFNB12, MIM: 601386<li>V->I at 1090: in USH1D, MIM: 601067<li>N->S at 1098: in USH1D; dbSNP:rs41281310, MIM: 601067<li>G->D at 1186: in DFNB12, MIM: 601386<li>P->R at 1206: in USH1D, MIM: 601067<li>T->A at 1209: in USH1D; dbSNP:rs41281314, MIM: 601067<li>A->T at 1222: in dbSNP:rs41281316, MIM: 601067<li>R->Q at 1236, MIM: 601067<li>Missing  at 1281: in USH1D, MIM: 601067<li>N->S at 1282, MIM: 601067<li>D->N at 1341: in DFNB12, MIM: 601386<li>R->C at 1349: in dbSNP:rs41281318, MIM: 601386<li>D->N at 1351: in dbSNP:rs1227065, MIM: 601386<li>R->W at 1417, MIM: 601386<li>R->Q at 1437: in dbSNP:rs56181447, MIM: 601386<li>Q->H at 1496: in USH1D, MIM: 601067<li>R->Q at 1507: in USH1D, MIM: 601067<li>I->M at 1520, MIM: 601067<li>M->T at 1574, MIM: 601067<li>T->A at 1575: in dbSNP:rs1227051, MIM: 601067<li>A->P at 1586: in DFNB12, MIM: 601386<li>E->K at 1595: in DFNB12, MIM: 601386<li>V->M at 1620: in dbSNP:rs41281330, MIM: 601386<li>T->S at 1671, MIM: 601386<li>V->I at 1675: in dbSNP:rs17712523, MIM: 601386<li>V->I at 1711, MIM: 601386<li>Q->P at 1716: in DFNB12, MIM: 601386<li>R->Q at 1746: in USH1D; mild retinal affection, MIM: 601067<li>P->L at 1788: in USH1D, MIM: 601067<li>R->Q at 1804: in dbSNP:rs3802711, MIM: 601067<li>V->M at 1807, MIM: 601067<li>D->N at 1846: in DFNB12, MIM: 601386<li>S->N at 1876, MIM: 601386<li>T->I at 1887, MIM: 601386<li>F->S at 1888: in DFNB12, MIM: 601386<li>V->I at 1908, MIM: 601386<li>R->W at 1912: in USH1D, MIM: 601067<li>D->N at 1930: in USH1D, MIM: 601067<li>T->S at 1999: in dbSNP:rs11592462, MIM: 601067<li>G->S at 2017: in USH1D; most likely affects splicing, MIM: 601067<li>R->W at 2029: in DFNB12, MIM: 601386<li>E->K at 2044: in dbSNP:rs10466026, MIM: 601386<li>D->N at 2045: in DFNB12, MIM: 601386<li>R->Q at 2066, MIM: 601386<li>I->M at 2125: in dbSNP:rs16929354, MIM: 601386<li>D->N at 2148: in DFNB12, MIM: 601386<li>R->C at 2171, MIM: 601386<li>D->N at 2202: in DFNB12, MIM: 601386<li>Q->P at 2227, MIM: 601386<li>V->I at 2283: in dbSNP:rs41281334, MIM: 601386<li>R->Q at 2358: in dbSNP:rs4747194, MIM: 601386<li>D->N at 2376: in dbSNP:rs9663920, MIM: 601386<li>D->V at 2376: in USH1D, MIM: 601067<li>P->L at 2380: in dbSNP:rs4747195, MIM: 601067<li>R->W at 2465: in DFNB12, MIM: 601386<li>L->P at 2473, MIM: 601386<li>R->H at 2489, MIM: 601386<li>S->G at 2517: in USH1D, MIM: 601067<li>T->I at 2530: in USH1D, MIM: 601067<li>E->Q at 2588: in dbSNP:rs41281338, MIM: 601067<li>R->H at 2608: in DFNB12, MIM: 601386<li>I->V at 2669, MIM: 601386<li>G->S at 2744: in USH1D; atypical, MIM: 601067<li>G->S at 2771: in USH1D, MIM: 601067<li>F->V at 2801: in dbSNP:rs3802707, MIM: 601067<li>R->G at 2833: in USH1D; atypical, MIM: 601067<li>A->Q at 2853: requires 2 nucleotide substitutions, MIM: 601067<li>V->E at 2933, MIM: 601067<li>I->N at 2950: in DFNB12, MIM: 601386<li>D->N at 2954, MIM: 601386<li>R->C at 2956: in DFNB12, MIM: 601386<li>N->S at 2962, MIM: 601386<li>V->A at 2968: in USH1D, MIM: 601067<li>P->T at 3059: in DFNB12, MIM: 601386<li>F->L at 3125: in dbSNP:rs45583140, MIM: 601386<li>R->C at 3175, MIM: 601386<li>R->H at 3175: in USH1D, MIM: 601067<li>R->W at 3189: in USH1D and USH1DF, MIM: 601067<li>S->F at 3245: in USH1D, MIM: 601067</ul>								<li>Usher syndrome type 1D/F (USH1DF) [MIM:601067]</li><li>Usher syndrome type 1D (USH1D) [MIM:601067]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 12 (DFNB12) [MIM:601386]</li>	<li>rs4747194</li><li>rs7902757</li><li>rs1227065</li><li>rs11592462</li><li>rs4747195</li><li>rs10466026</li><li>rs3802707</li><li>rs45583140</li><li>rs1227049</li><li>rs10999947</li><li>rs16929354</li><li>rs1227051</li><li>rs3802711</li><li>rs9663920</li><li>rs41281316</li><li>rs41281318</li><li>rs56181447</li><li>rs17712523</li><li>rs41281338</li><li>rs41281334</li><li>rs41281330</li>	2
Q9H252	81033	<ul><li>G->R at 165: in dbSNP:rs35399062<li>T->M at 925: in dbSNP:rs35819807</ul>									<li>rs35819807</li><li>rs35399062</li>	2
Q9H254	57731	<ul><li>G->S at 1331: in dbSNP:rs814501</ul>									rs814501	2
Q9H257	64170	<ul><li>S->N at 12: in dbSNP:rs4077515</ul>									rs4077515	2
Q9H267	26276	<ul><li>L->P at 30: in ARC, MIM: 208085<li>S->G at 514: in dbSNP:rs11073964, MIM: 208085</ul>								Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) [MIM:208085]	rs11073964	2
Q9H269	64601	<ul><li>S->I at 637: in dbSNP:rs35773586</ul>									rs35773586	2
Q9H295	81501	<ul><li>D->G at 349: in dbSNP:rs3802204</ul>									rs3802204	2
Q9H2A2	64577	<ul><li>F->S at 402: in dbSNP:rs2294315</ul>									rs2294315	2
Q9H2A7	58191	<ul><li>I->T at 123<li>A->V at 181</ul>										2
Q9H2A9	64377	<ul><li>R->H at 247: in a colorectal cancer sample; somatic mutation</ul>										2
Q9H2B2	6860	<ul><li>S->N at 142: in dbSNP:rs16977447</ul>									rs16977447	2
Q9H2B4	10861	<ul><li>Q->R at 556: in dbSNP:rs3796622</ul>									rs3796622	2
Q9H2C0	8139	<ul><li>R->S at 15: in GAN; no effect on binding to TBCB, MIM: 256850<li>A->P at 51: in GAN, MIM: 256850<li>S->G at 52: in GAN, MIM: 256850<li>S->L at 79: in GAN, MIM: 256850<li>V->F at 82: in GAN; no effect on binding to TBCB, MIM: 256850<li>I->F at 86: in GAN, MIM: 256850<li>Y->C at 89: in GAN, MIM: 256850<li>R->H at 138: in GAN, MIM: 256850<li>V->F at 195: in GAN, MIM: 256850<li>R->Q at 269: in GAN, MIM: 256850<li>L->R at 309: in GAN, MIM: 256850<li>P->L at 315: in GAN, MIM: 256850<li>G->R at 368: in GAN, MIM: 256850<li>I->T at 423: in GAN, MIM: 256850<li>G->R at 474: in GAN, MIM: 256850<li>E->K at 486: in GAN, MIM: 256850<li>R->C at 545: in GAN; complete loss of binding to TBCB, MIM: 256850<li>R->H at 545: in GAN, MIM: 256850<li>C->Y at 570: in GAN, MIM: 256850</ul>			binding	GO:0005488			Q9H2C0	Giant axonal neuropathy (GAN) [MIM:256850]		2
Q9H2C2	64801	<ul><li>G->E at 101: in dbSNP:rs35764859</ul>									rs35764859	2
Q9H2D1	81034	<ul><li>R->H at 117: in dbSNP:rs17803441</ul>									rs17803441	2
Q9H2D6	11078	<ul><li>N->K at 863: in dbSNP:rs9610841<li>G->R at 1019: in DFNB28, MIM: 609823<li>E->D at 1372: in dbSNP:rs8140207, MIM: 609823<li>W->R at 1377: in dbSNP:rs8140958, MIM: 609823</ul>								Non-syndromic sensorineural deafness autosomal recessive type 28 (DFNB28) [MIM:609823]	<li>rs8140207</li><li>rs9610841</li><li>rs8140958</li>	2
Q9H2E6	57556	<ul><li>H->Y at 518: in dbSNP:rs34966<li>R->H at 559: in dbSNP:rs17432496<li>D->E at 567: in dbSNP:rs12516652</ul>									<li>rs34966</li><li>rs12516652</li><li>rs17432496</li>	2
Q9H2F3	80270	<ul><li>G->S at 19: in CBAS1, MIM: 607765<li>E->K at 147: in CBAS1; loss of activity, MIM: 607765<li>T->A at 250: in dbSNP:rs9938550, MIM: 607765<li>L->P at 347: in dbSNP:rs34212827, MIM: 607765</ul>								Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	<li>rs9938550</li><li>rs34212827</li>	2
Q9H2F9	80323	<ul><li>V->A at 249: in dbSNP:rs34751112</ul>									rs34751112	2
Q9H2G2	9748	<ul><li>Q->K at 405: in a lung adenocarcinoma sample; somatic mutation<li>C->Y at 552: in dbSNP:rs805657<li>E->Q at 604: in an ovarian serous carcinoma sample; somatic mutation<li>A->G at 658: in dbSNP rsrs56400929<li>G->E at 666: in dbSNP:rs7071400<li>I->T at 679: in dbSNP rsrs34326537<li>K->N at 683: in dbSNP rsrs35389916<li>T->I at 697: in dbSNP:rs3740469</ul>									<li>rs3740469</li><li>rs35389916</li><li>rs56400929</li><li>rs805657</li><li>rs34326537</li><li>rs7071400</li>	2
Q9H2G9	8548	<ul><li>Q->R at 40: in dbSNP:rs1028180<li>R->Q at 196: in dbSNP:rs1064274</ul>									<li>rs1064274</li><li>rs1028180</li>	2
Q9H2H8	53938	<ul><li>D->E at 146: in dbSNP:rs7562391</ul>									rs7562391	2
Q9H2I8	83938	<ul><li>S->F at 153: in dbSNP:rs35349706</ul>									rs35349706	2
Q9H2J7	55117	<ul><li>A->V at 400: in dbSNP:rs12424429<li>I->M at 603: in dbSNP:rs3782369</ul>									<li>rs3782369</li><li>rs12424429</li>	2
Q9H2K0	219402	<ul><li>T->I at 68: in dbSNP:rs17857314<li>L->F at 243: in dbSNP:rs1218825</ul>									<li>rs1218825</li><li>rs17857314</li>	2
Q9H2K8	51347	<ul><li>P->T at 20: in a lung adenocarcinoma sample; somatic mutation<li>S->N at 47: in dbSNP:rs428073<li>S->Y at 392: in a lung small cell carcinoma sample; somatic mutation<li>C->Y at 727: in dbSNP rsrs55857273</ul>									<li>rs428073</li><li>rs55857273</li>	2
Q9H2L4	85025	<ul><li>V->G at 42: in dbSNP:rs34580932</ul>									rs34580932	2
Q9H2L5	83937	<ul><li>H->Y at 10: in dbSNP:rs34692238<li>R->G at 88: in dbSNP:rs870957</ul>									<li>rs34692238</li><li>rs870957</li>	2
Q9H2M9	25782	<ul><li>T->A at 863: in dbSNP:rs12045447<li>G->C at 1052: in Martsolf syndrome; may cause exon skipping, MIM: 212720<li>S->T at 1092: in dbSNP:rs2289189, MIM: 212720</ul>								Martsolf syndrome [MIM:212720]	<li>rs12045447</li><li>rs2289189</li>	2
Q9H2N8		<ul><li>R->C at 121: in dbSNP:rs3824534</ul>									rs3824534	2
Q9H2R5	55554	<ul><li>P->L at 134: in dbSNP:rs3212805<li>A->T at 137: in a breast cancer sample; somatic mutation</ul>									rs3212805	2
Q9H2S5	80352	<ul><li>S->P at 203: in dbSNP:rs2074479<li>A->T at 245: in dbSNP:rs2301752<li>D->N at 268: in dbSNP:rs1057539<li>A->E at 304: in dbSNP:rs2301753</ul>									<li>rs2301753</li><li>rs2074479</li><li>rs2301752</li><li>rs1057539</li>	2
Q9H2U1	170506	<ul><li>E->K at 151: in dbSNP:rs1058299<li>C->S at 416: in dbSNP:rs9438<li>I->N at 583: in dbSNP:rs17853513</ul>									<li>rs1058299</li><li>rs9438</li><li>rs17853513</li>	2
Q9H2U2	27068	<ul><li>K->N at 282: in dbSNP:rs13787</ul>									rs13787	2
Q9H2U9	8756	<ul><li>E->Q at 25: in dbSNP:rs34852692<li>I->V at 205: in dbSNP:rs7829386<li>V->M at 244: in dbSNP:rs13255694<li>I->T at 453: in dbSNP:rs3736281<li>L->V at 570: in dbSNP:rs2307044<li>N->H at 638: in dbSNP:rs13259668<li>L->P at 735: in dbSNP:rs6980829</ul>									<li>rs6980829</li><li>rs3736281</li><li>rs7829386</li><li>rs34852692</li><li>rs2307044</li><li>rs13255694</li><li>rs13259668</li>	2
Q9H2V7	83985	<ul><li>A->P at 230: in dbSNP:rs17855956</ul>									rs17855956	2
Q9H2W1	64231	<ul><li>A->S at 183<li>T->S at 185: in dbSNP:rs7232</ul>									rs7232	2
Q9H2W6	26589	<ul><li>H->Y at 106: in dbSNP:rs16941888</ul>									rs16941888	2
Q9H2X0	8646	<ul><li>P->S at 94: in dbSNP:rs34095724<li>M->L at 630: in dbSNP:rs16858780</ul>									<li>rs16858780</li><li>rs34095724</li>	2
Q9H2X3	10332	<ul><li>R->Q at 164: in dbSNP:rs11465376<li>Y->C at 205: in dbSNP:rs479448<li>Y->C at 251: in dbSNP:rs479448<li>D->N at 291: in dbSNP:rs2277998</ul>									<li>rs2277998</li><li>rs479448</li><li>rs11465376</li>	2
Q9H2X6	28996	<ul><li>R->Q at 792<li>R->Q at 1027</ul>										2
Q9H2X9	57468	<ul><li>P->A at 407: in dbSNP:rs16985442<li>G->D at 847: in a colorectal cancer sample; somatic mutation<li>P->L at 1100: in dbSNP:rs17297532</ul>									<li>rs17297532</li><li>rs16985442</li>	2
Q9H2Y7	64397	<ul><li>W->R at 103: in dbSNP:rs12440118<li>I->T at 646: in dbSNP:rs12101559<li>M->V at 656: in dbSNP:rs34792942<li>P->T at 1162: in dbSNP:rs34983340</ul>									<li>rs34983340</li><li>rs12440118</li><li>rs34792942</li><li>rs12101559</li>	2
Q9H2Y9	81796	<ul><li>L->F at 33: in dbSNP:rs3750266</ul>									rs3750266	2
Q9H300	55486	<ul><li>A->G at 137: in dbSNP:rs4912470<li>V->L at 262: in dbSNP:rs3732581</ul>									<li>rs3732581</li><li>rs4912470</li>	2
Q9H306	64066	<ul><li>R->W at 22: in dbSNP:rs12099177<li>M->T at 24: in dbSNP:rs1939015<li>V->M at 30: in dbSNP:rs2846707<li>E->V at 266: in dbSNP:rs1276286<li>W->L at 304: in dbSNP:rs35616217<li>D->N at 447: in dbSNP:rs2509010<li>I->V at 477: in dbSNP:rs35822551</ul>									<li>rs1276286</li><li>rs2509010</li><li>rs1939015</li><li>rs35616217</li><li>rs12099177</li><li>rs2846707</li><li>rs35822551</li>	2
Q9H307	5411	<ul><li>S->T at 441: in dbSNP:rs2180792<li>S->G at 671: in dbSNP:rs13021</ul>									<li>rs2180792</li><li>rs13021</li>	2
Q9H310	57127	<ul><li>G->D at 76: in dbSNP:rs2245623<li>V->D at 143: in dbSNP:rs11586833<li>G->R at 315: in dbSNP:rs3748569<li>C->R at 339: in dbSNP:rs3748567</ul>									<li>rs3748567</li><li>rs3748569</li><li>rs11586833</li><li>rs2245623</li>	2
Q9H321	425054	<ul><li>K->T at 15: in dbSNP:rs5934423</ul>									rs5934423	2
Q9H322	51480	<ul><li>A->G at 70: in dbSNP:rs41309545<li>L->P at 104: in dbSNP:rs41305169<li>V->L at 110: in dbSNP:rs1058237<li>S->T at 138: in dbSNP:rs1058239</ul>									<li>rs41305169</li><li>rs1058237</li><li>rs1058239</li><li>rs41309545</li>	2
Q9H329	54566	<ul><li>N->T at 816: in dbSNP:rs3750450</ul>									rs3750450	2
Q9H336	83690	<ul><li>A->S at 286: in dbSNP:rs1945</ul>									rs1945	2
Q9H339	282763	<ul><li>S->G at 5: in dbSNP:rs11036913<li>I->T at 102: in dbSNP:rs11036912<li>V->I at 154: in dbSNP:rs12273630<li>P->L at 160: in dbSNP:rs4910551<li>L->F at 220: in dbSNP:rs7120319</ul>									<li>rs7120319</li><li>rs12273630</li><li>rs4910551</li><li>rs11036913</li><li>rs11036912</li>	2
Q9H340	390058	<ul><li>K->T at 5: in dbSNP:rs4910755<li>N->S at 40: in dbSNP:rs4910756<li>I->T at 90: in dbSNP:rs7483122<li>T->A at 123: in dbSNP:rs5006889<li>T->I at 131: in dbSNP:rs5006887<li>R->G at 145: in dbSNP:rs5006886<li>S->A at 169: in dbSNP:rs5006885<li>L->F at 172: in dbSNP:rs5006884<li>F->L at 192: in dbSNP:rs5006883<li>V->L at 254: in dbSNP:rs7106330<li>S->R at 275: in dbSNP:rs5024042</ul>									<li>rs5024042</li><li>rs7106330</li><li>rs5006884</li><li>rs5006885</li><li>rs5006883</li><li>rs7483122</li><li>rs5006889</li><li>rs5006886</li><li>rs4910755</li><li>rs5006887</li><li>rs4910756</li>	2
Q9H342		<ul><li>C->Y at 100</ul>										2
Q9H343	390063	<ul><li>R->H at 124: in dbSNP:rs16930982<li>V->L at 164: in dbSNP:rs11037445<li>A->S at 252: in dbSNP:rs1498486</ul>									<li>rs1498486</li><li>rs11037445</li><li>rs16930982</li>	2
Q9H344	390064	<ul><li>R->C at 122: in dbSNP:rs10450603<li>T->A at 134: in dbSNP:rs12577167<li>R->P at 151: in dbSNP:rs16931292<li>R->H at 263: in dbSNP:rs11037502</ul>									<li>rs11037502</li><li>rs10450603</li><li>rs16931292</li><li>rs12577167</li>	2
Q9H346	390066	<ul><li>R->C at 154: in dbSNP:rs7935144<li>D->E at 213: in dbSNP:rs7924754<li>Y->F at 221: in dbSNP:rs7950082<li>I->T at 251: in dbSNP:rs7101919<li>R->W at 304: in dbSNP:rs11037758</ul>									<li>rs7935144</li><li>rs7924754</li><li>rs11037758</li><li>rs7950082</li><li>rs7101919</li>	2
Q9H347	50613	<ul><li>C->R at 255: in dbSNP:rs2234446<li>N->D at 285: in dbSNP:rs2234449<li>T->A at 287: in dbSNP:rs2234450<li>T->S at 290: in dbSNP:rs2234451<li>M->T at 546: in dbSNP:rs2234455<li>R->Q at 624: in dbSNP:rs2227271</ul>									<li>rs2227271</li><li>rs2234455</li><li>rs2234446</li><li>rs2234449</li><li>rs2234451</li><li>rs2234450</li>	2
Q9H3D4	8626	<ul><li>S->L at 129<li>S->L at 184: in head and neck cancer<li>A->P at 187: in lung carcinoma; somatic mutation<li>T->TP at 193: in SHFM4<li>Q->L at 204: in cervical cancer<li>K->E at 232: in SHFM4, MIM: 605289<li>K->E at 233: in SHFM4, MIM: 605289<li>R->Q at 243: in EEC3, MIM: 604292<li>R->W at 243: in EEC3, MIM: 604292<li>R->Q at 266: in EEC3, MIM: 604292<li>P->H at 279: in colon cancer, MIM: 604292<li>C->Y at 308: in EEC3, MIM: 604292<li>S->N at 311: in EEC3, MIM: 604292<li>R->C at 318: in EEC3, MIM: 604292<li>R->H at 318: in EEC3 and EDRH; does not decrease the transcriptional activity of the TAp63-gamma isoform on a TP53 reporter system but disrupts the dominant-negative activity of the delta-N-p63-alpha and -gamma isoforms on the transcriptional activity of TP53, MIM: 604292<li>R->Q at 318: in EEC3, MIM: 604292<li>R->C at 319: in EEC3, MIM: 604292<li>R->H at 319: in EEC3 and SHFM4, MIM: 605289<li>R->S at 319: in EEC3, MIM: 604292<li>R->Q at 337: in ADULT syndrome; confers novel transcription activation capacity on isoform 6, MIM: 103285<li>R->Q at 343: in EEC3, MIM: 604292<li>R->W at 343: in EEC3, MIM: 604292<li>C->R at 345: in EEC3; abolishes transcription activation, MIM: 604292<li>C->S at 347: in EEC3, MIM: 604292<li>P->S at 348: in EEC3, MIM: 604292<li>D->G at 351: in EEC3, MIM: 604292<li>D->H at 351: in EEC3, MIM: 604292<li>R->G at 352: in EDRH and OFC8, MIM: 129400<li>I->T at 549: in EDRH, MIM: 129400<li>L->F at 553: in AEC, MIM: 106260<li>S->A at 560: in ovarian cancer, MIM: 106260<li>C->G at 561: in AEC, MIM: 106260<li>S->P at 580: in EDRH, MIM: 129400<li>D->H at 603, MIM: 129400</ul>	transcription	GO:0006350					<li>Q07065</li><li>Q9TUB2</li><li>P56423</li><li>P56424</li><li>O12946</li><li>P25035</li><li>O36006</li><li>Q64662</li><li>Q9JJP6</li><li>O57538</li><li>P10360</li><li>P61260</li><li>Q9FL16</li><li>Q9W679</li><li>Q9W678</li><li>P13481</li><li>Q9TTA1</li><li>Q95330</li><li>O93379</li><li>P41685</li><li>O88898</li><li>Q8SPZ3</li><li>P79820</li><li>Q92143</li><li>Q9P2Y5</li><li>P04637</li><li>Q29537</li><li>Q29480</li><li>O09185</li><li>Q9H3D4</li><li>P25420</li><li>Q00366</li><li>Q8BMK4</li><li>P79892</li><li>P51664</li><li>Q9WUR6</li><li>P67939</li><li>P67938</li>	<li>Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]</li><li>Split-hand/foot malformation 4 (SHFM4) [MIM:605289]</li><li>Non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400]</li><li>Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]</li><li>Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]</li><li>Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]</li>		2
Q9H3E2	83891	<ul><li>E->K at 318: in dbSNP:rs35700132<li>I->V at 586: in dbSNP:rs3756275<li>T->I at 725: in dbSNP:rs34120554</ul>									<li>rs34120554</li><li>rs35700132</li><li>rs3756275</li>	2
Q9H3G5	54504	<ul><li>S->L at 11: in dbSNP:rs36074676<li>R->H at 25: in dbSNP:rs34219043<li>R->H at 398: in dbSNP:rs1052200<li>A->V at 435: in dbSNP:rs7313</ul>									<li>rs36074676</li><li>rs34219043</li><li>rs7313</li><li>rs1052200</li>	2
Q9H3H1	54802	<ul><li>F->L at 202: in dbSNP:rs3738671</ul>									rs3738671	2
Q9H3H5	1798	<ul><li>M->I at 9: in a breast cancer sample; somatic mutation<li>Y->C at 170: in CDG1J: in dbSNP rsrs28934876, MIM: 608093<li>I->V at 393: in dbSNP:rs643788, MIM: 608093</ul>								Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	<li>rs28934876</li><li>rs643788</li>	2
Q9H3H9	140597	<ul><li>D->G at 19: in dbSNP:rs34924423<li>G->A at 68: in dbSNP:rs5944856</ul>									<li>rs34924423</li><li>rs5944856</li>	2
Q9H3J6	91574	<ul><li>A->T at 134: in dbSNP:rs1045496</ul>									rs1045496	2
Q9H3L0	27249	<ul><li>S->SLAEPLS at 108: in MMADHC; cblD variant 2<li>T->N at 182: in MMADHC; cblD variant 1, MIM: 277410<li>Missing  at 204-232: in MMADHC; cblD original, MIM: 277410<li>Y->C at 249: in MMADHC; cblD variant 1, MIM: 277410<li>L->P at 259: in MMADHC; cblD variant 1, MIM: 277410</ul>								Methylmalonic aciduria and homocystinuria type cblD (MMADHC) [MIM:277410]		2
Q9H3M7	10628	<ul><li>R->Q at 177: in dbSNP:rs6674773</ul>									rs6674773	2
Q9H3M9	92552	<ul><li>L->F at 266: in dbSNP:rs16999010<li>G->D at 332: in dbSNP:rs4830842</ul>									<li>rs16999010</li><li>rs4830842</li>	2
Q9H3N8	59340	<ul><li>A->V at 138: in dbSNP:rs11665084<li>H->R at 206: in dbSNP:rs11662595</ul>									<li>rs11662595</li><li>rs11665084</li>	2
Q9H3P7	64746	<ul><li>E->D at 187: in dbSNP:rs2306120</ul>									rs2306120	2
Q9H3Q3	64090	<ul><li>M->L at 4: in dbSNP:rs12469459</ul>									rs12469459	2
Q9H3R0	23081	<ul><li>E->D at 206: in dbSNP:rs7864351<li>D->N at 396: in dbSNP:rs2296067<li>S->T at 492: in dbSNP:rs35826653<li>N->S at 697: in dbSNP:rs35389625<li>Q->E at 767: in dbSNP:rs1407856<li>K->R at 772: in dbSNP:rs1417290<li>V->I at 1039: in dbSNP:rs913588</ul>									<li>rs913588</li><li>rs1417290</li><li>rs35389625</li><li>rs1407856</li><li>rs2296067</li><li>rs35826653</li><li>rs7864351</li>	2
Q9H3R5	64946	<ul><li>E->K at 2: in a colorectal cancer sample; somatic mutation</ul>										2
Q9H3S1	64218	<ul><li>D->H at 345: in RP35 and CORD10; heterozygous compound with C-350, MIM: 610282<li>F->C at 350: in RP35 and CORD10; heterozygous compound with H-345, MIM: 610282<li>R->Q at 510: in dbSNP:rs2075164, MIM: 610282<li>R->Q at 713: in RP35; also in a patient with congenital blindness: in dbSNP rsrs41265017, MIM: 610282</ul>								<li>Cone-rod dystrophy type 10 (CORD10) [MIM:610283]</li><li>Retinitis pigmentosa type 35 (RP35) [MIM:610282]</li>	<li>rs2075164</li><li>rs41265017</li>	2
Q9H3S3		<ul><li>D->V at 31: in deafness; sporadic case<li>R->Q at 46: in dbSNP:rs11601425<li>V->M at 125: in dbSNP:rs7939917<li>A->V at 249<li>A->S at 317: in deafness; sporadic case; no detectable proteolytic activity in a yeast-based protease assay<li>P->S at 337<li>F->L at 369: common polymorphism; reduced proteolytic activity in a yeast-based protease assay; dbSNP:rs7110736</ul>							<li>P19028</li><li>Q9QBZ5</li><li>P24107</li><li>Q9QBZ1</li><li>Q79666</li><li>P15833</li><li>P03362</li><li>P18042</li><li>Q8AII1</li><li>P03363</li><li>P04024</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P0C210</li><li>P51518</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P10394</li><li>P19561</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>Q77373</li><li>P03370</li><li>P27502</li><li>P21414</li>		<li>rs11601425</li><li>rs7939917</li>	2
Q9H3S5	93183	<ul><li>F->L at 365: in dbSNP:rs12409352</ul>									rs12409352	2
Q9H3S7	25930	<ul><li>A->T at 944: in dbSNP:rs6780013<li>P->S at 1099: in a lung cancer cell line; may be a common polymorphism</ul>									rs6780013	2
Q9H3T2	10500	<ul><li>P->T at 455: in dbSNP:rs4971007</ul>									rs4971007	2
Q9H3U1	55898	<ul><li>T->M at 796: in dbSNP:rs8041035</ul>									rs8041035	2
Q9H3U5	64747	<ul><li>P->S at 24: in dbSNP:rs28364680<li>K->E at 168: in dbSNP:rs17854200<li>I->V at 220: in dbSNP:rs3765083</ul>									<li>rs3765083</li><li>rs17854200</li><li>rs28364680</li>	2
Q9H3V2	64232	<ul><li>L->R at 123: in a colorectal cancer sample; somatic mutation</ul>										2
Q9H3W5	54674	<ul><li>D->G at 24: in dbSNP:rs9942557</ul>									rs9942557	2
Q9H3Y0	140902	<ul><li>F->C at 15: in dbSNP:rs11699901<li>D->N at 68: in dbSNP:rs36117710</ul>									<li>rs11699901</li><li>rs36117710</li>	2
Q9H3Y6	6725	<ul><li>R->C at 73: in dbSNP rsrs56053583<li>G->R at 75: in dbSNP rsrs55863722<li>I->V at 88: in dbSNP:rs35558836<li>P->L at 218: in dbSNP:rs378483<li>V->M at 255: in dbSNP:rs34969822<li>V->L at 301: in dbSNP:rs310657<li>P->L at 325: in dbSNP:rs8122355<li>D->E at 377: in dbSNP rsrs55838540<li>A->V at 397: in dbSNP rsrs6011889<li>P->L at 452: in dbSNP:rs8120713<li>A->T at 453: in dbSNP:rs310655<li>V->L at 457: in dbSNP:rs310654<li>S->T at 465: in dbSNP:rs33933649</ul>									<li>rs35558836</li><li>rs34969822</li><li>rs8120713</li><li>rs8122355</li><li>rs378483</li><li>rs33933649</li><li>rs6011889</li><li>rs55838540</li><li>rs310654</li><li>rs310655</li><li>rs56053583</li><li>rs55863722</li><li>rs310657</li>	2
Q9H3Z7	140701	<ul><li>L->Q at 10: in dbSNP:rs2281534</ul>									rs2281534	2
Q9H400	54923	<ul><li>P->L at 211: in dbSNP:rs1151625</ul>									rs1151625	2
Q9H422	10114	<ul><li>Q->R at 142: in dbSNP rsrs34193811<li>G->E at 170: in dbSNP rsrs34698015<li>C->R at 191: in dbSNP rsrs35689361<li>V->I at 474: in dbSNP:rs266472<li>S->N at 500: in dbSNP:rs11032229<li>P->L at 729: in dbSNP rsrs55807239</ul>									<li>rs34193811</li><li>rs266472</li><li>rs11032229</li><li>rs55807239</li><li>rs35689361</li><li>rs34698015</li>	2
Q9H425	84886	<ul><li>A->S at 274: in dbSNP:rs34864456<li>K->R at 306: in dbSNP:rs35115679</ul>									<li>rs35115679</li><li>rs34864456</li>	2
Q9H427	60598	<ul><li>G->E at 95: in TASK-5B; dbSNP:rs1111032<li>P->T at 260: in TASK-5B; dbSNP:rs6073538<li>P->H at 261: in TASK-5A; dbSNP:rs13037900<li>P->L at 323: in TASK-5B; dbSNP:rs13042905</ul>							O14649		<li>rs13037900</li><li>rs6073538</li><li>rs1111032</li><li>rs13042905</li>	2
Q9H444	128866	<ul><li>D->V at 129: in CTPP3, MIM: 605387<li>E->K at 161: in CTPP3, MIM: 605387</ul>								Posterior polar cataract type 3 (CTPP3) [MIM:605387]		2
Q9H488	23509	<ul><li>L->F at 322: in dbSNP:rs17268666<li>D->N at 348: in dbSNP:rs35259534</ul>									<li>rs35259534</li><li>rs17268666</li>	2
Q9H489		<ul><li>P->H at 246: in dbSNP:rs3813922</ul>									rs3813922	2
Q9H493		<ul><li>A->V at 32: in dbSNP:rs2277767</ul>									rs2277767	2
Q9H497	64222	<ul><li>F->L at 13: in dbSNP:rs2296377</ul>									rs2296377	2
Q9H4A3	65125	<ul><li>A->T at 141: in dbSNP rsrs11554421<li>A->V at 149: in dbSNP rsrs34880640<li>E->Q at 419: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>I->T at 509: in dbSNP rsrs34728563<li>D->G at 527: in dbSNP rsrs34408667<li>T->I at 665: in dbSNP:rs2286007<li>T->A at 674: in dbSNP rsrs11833299<li>H->R at 823: in dbSNP rsrs56015776<li>E->G at 1199: in a colorectal cancer sample; somatic mutation<li>A->V at 1546: in dbSNP rsrs56351358<li>Q->E at 1799: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation<li>I->M at 1808: in dbSNP rsrs12828016<li>P->L at 1823: in dbSNP rsrs17755373<li>R->H at 1957: in dbSNP rsrs36083875<li>S->C at 2190: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>F->L at 2362: in a lung adenocarcinoma sample; somatic mutation<li>R->W at 2380: in dbSNP rsrs56262445</ul>									<li>rs17755373</li><li>rs2286007</li><li>rs34728563</li><li>rs36083875</li><li>rs34880640</li><li>rs12828016</li><li>rs56015776</li><li>rs56262445</li><li>rs56351358</li><li>rs11833299</li><li>rs11554421</li><li>rs34408667</li>	2
Q9H4A4	6051	<ul><li>V->I at 579: in dbSNP:rs3820439</ul>									rs3820439	2
Q9H4A9	64174	<ul><li>H->D at 468: in dbSNP:rs1133090</ul>									rs1133090	2
Q9H4B0	64172	<ul><li>A->P at 229: in dbSNP:rs3749014</ul>									rs3749014	2
Q9H4B4	1263	<ul><li>T->S at 61: in dbSNP:rs17884581<li>L->F at 68: in dbSNP:rs17884316<li>L->F at 283: in dbSNP:rs17880471<li>R->C at 483: in dbSNP:rs17884653<li>S->L at 498: in dbSNP:rs17880829<li>S->P at 618: in dbSNP:rs17881786</ul>									<li>rs17884581</li><li>rs17881786</li><li>rs17884653</li><li>rs17880471</li><li>rs17884316</li><li>rs17880829</li>	2
Q9H4B6	60485	<ul><li>A->D at 185: in a colon cancer cell line</ul>										2
Q9H4B7	81027	<ul><li>Q->H at 43: in dbSNP:rs415064<li>Q->P at 43: in dbSNP:rs463312<li>T->M at 274: in dbSNP:rs35565630<li>R->H at 307: in dbSNP:rs6070697</ul>									<li>rs415064</li><li>rs463312</li><li>rs35565630</li><li>rs6070697</li>	2
Q9H4D0	64084	<ul><li>S->I at 193: in a colorectal cancer sample; somatic mutation<li>I->V at 366: in dbSNP:rs7632885<li>R->Q at 765: in a colorectal cancer sample; somatic mutation</ul>									rs7632885	2
Q9H4D5	56000	<ul><li>N->I at 186: in dbSNP:rs2301387</ul>									rs2301387	2
Q9H4E7	50619	<ul><li>N->T at 287: in dbSNP:rs2395617<li>R->H at 578: in dbSNP:rs9296146</ul>									<li>rs2395617</li><li>rs9296146</li>	2
Q9H4F8	64093	<ul><li>V->M at 82: in dbSNP:rs10150925</ul>									rs10150925	2
Q9H4G1	128821	<ul><li>H->P at 109: in dbSNP:rs2295564</ul>									rs2295564	2
Q9H4I2	23051	<ul><li>N->S at 310: in dbSNP:rs17265513</ul>									rs17265513	2
Q9H4I8	253190	<ul><li>E->K at 3: in dbSNP:rs3213549<li>S->N at 46: in dbSNP:rs926333<li>C->R at 306: in dbSNP:rs137055</ul>									<li>rs926333</li><li>rs137055</li><li>rs3213549</li>	2
Q9H4I9	91689	<ul><li>R->G at 46: in dbSNP:rs17852210</ul>									rs17852210	2
Q9H4K1	26150	<ul><li>R->C at 180: in dbSNP:rs2142661<li>F->L at 195: in dbSNP:rs1022478<li>R->Q at 262: in dbSNP:rs2072770</ul>									<li>rs1022478</li><li>rs2072770</li><li>rs2142661</li>	2
Q9H4K7	26164	<ul><li>G->S at 47: in dbSNP:rs6062133<li>H->R at 93: in dbSNP:rs11700220<li>A->V at 337: in dbSNP:rs35693261</ul>									<li>rs6062133</li><li>rs35693261</li><li>rs11700220</li>	2
Q9H4L4	26168	<ul><li>W->R at 515: in dbSNP:rs9972914</ul>									rs9972914	2
Q9H4L5	26031	<ul><li>M->V at 354: in dbSNP:rs11768296</ul>									rs11768296	2
Q9H4L7	56916	<ul><li>S->F at 66: in dbSNP:rs11723410<li>L->F at 135: in dbSNP:rs2664891<li>R->C at 140: in dbSNP:rs2632398<li>S->Y at 245: in dbSNP:rs3103117<li>S->N at 247: in dbSNP:rs11722476<li>A->V at 301: in dbSNP:rs7439869<li>P->Q at 351: in dbSNP:rs17854344<li>V->A at 972: in dbSNP:rs17857297</ul>									<li>rs17857297</li><li>rs17854344</li><li>rs7439869</li><li>rs2632398</li><li>rs2664891</li><li>rs3103117</li><li>rs11722476</li><li>rs11723410</li>	2
Q9H4T2	80345	<ul><li>R->Q at 137: in a colorectal cancer sample; somatic mutation</ul>										2
Q9H4Y5	119391	<ul><li>C->Y at 130: in dbSNP:rs45582439<li>N->D at 142: in dbSNP:rs156697</ul>									<li>rs45582439</li><li>rs156697</li>	2
Q9H4Z2	63925	<ul><li>R->C at 65: in dbSNP:rs6130982<li>G->S at 101: in dbSNP:rs6094231<li>S->T at 294: in dbSNP:rs6032606<li>Y->H at 603: in dbSNP:rs16990961</ul>									<li>rs16990961</li><li>rs6032606</li><li>rs6094231</li><li>rs6130982</li>	2
Q9H501	51575	<ul><li>P->L at 386: in dbSNP:rs6079171<li>I->T at 550: in dbSNP:rs3180370<li>I->L at 824: in dbSNP:rs34414644</ul>									<li>rs6079171</li><li>rs34414644</li><li>rs3180370</li>	2
Q9H503	140836	<ul><li>N->D at 3: in dbSNP:rs4814640<li>T->S at 78: in dbSNP:rs1053993</ul>									<li>rs1053993</li><li>rs4814640</li>	2
Q9H511	401265	<ul><li>N->S at 11: in dbSNP:rs6908377<li>V->I at 156: in dbSNP:rs3799260<li>A->T at 508: in dbSNP:rs3799261</ul>									<li>rs3799260</li><li>rs3799261</li><li>rs6908377</li>	2
Q9H553	85365	<ul><li>S->P at 11: in dbSNP:rs11545137<li>V->A at 367: in dbSNP:rs35626507</ul>									<li>rs11545137</li><li>rs35626507</li>	2
Q9H568	81569	<ul><li>A->S at 3: in dbSNP:rs694214<li>R->C at 245: in dbSNP:rs3795322</ul>									<li>rs3795322</li><li>rs694214</li>	2
Q9H582	84146	<ul><li>E->Q at 53: in a breast cancer sample; somatic mutation<li>M->V at 556: in dbSNP:rs17131242<li>A->V at 794: in dbSNP:rs10922938</ul>									<li>rs17131242</li><li>rs10922938</li>	2
Q9H583	55127	<ul><li>H->R at 348: in dbSNP:rs2794751<li>M->V at 607: in dbSNP:rs2794763<li>D->G at 957: in dbSNP:rs16833953<li>Y->C at 1433: in dbSNP:rs653737<li>S->N at 1559: in dbSNP:rs6661946<li>R->H at 1654: in dbSNP:rs16833884<li>N->S at 1694: in dbSNP:rs2275689<li>V->A at 1854: in dbSNP:rs1885533<li>N->D at 1967: in dbSNP:rs1126627<li>E->G at 2017: in dbSNP:rs2275687<li>S->L at 2077: in dbSNP:rs6664730</ul>									<li>rs1885533</li><li>rs6664730</li><li>rs1126627</li><li>rs2275687</li><li>rs6661946</li><li>rs16833884</li><li>rs2794751</li><li>rs16833953</li><li>rs2794763</li><li>rs2275689</li><li>rs653737</li>	2
Q9H596	63904	<ul><li>R->C at 167: in a colorectal cancer sample; somatic mutation<li>M->T at 186: in dbSNP:rs1045031</ul>									rs1045031	2
Q9H598	140679	<ul><li>S->G at 423: in dbSNP:rs34517228</ul>									rs34517228	2
Q9H5F2	64776	<ul><li>V->A at 40: in dbSNP:rs9280<li>K->Q at 49: in dbSNP:rs11540721<li>Q->H at 85: in dbSNP:rs3180820</ul>									<li>rs9280</li><li>rs3180820</li><li>rs11540721</li>	2
Q9H5H4	79724	<ul><li>E->D at 181: in dbSNP:rs10871453<li>A->S at 488: in dbSNP:rs3751848</ul>									<li>rs3751848</li><li>rs10871453</li>	2
Q9H5I1	79723	<ul><li>D->H at 383: in a breast cancer sample; somatic mutation</ul>										2
Q9H5I5	63895	<ul><li>V->I at 255: in dbSNP:rs3748428</ul>									rs3748428	2
Q9H5J0	79842	<ul><li>H->L at 424: in a breast cancer sample; somatic mutation<li>S->F at 455: in a breast cancer sample; somatic mutation<li>I->M at 574: in dbSNP:rs544641</ul>									rs544641	2
Q9H5K3	84197	<ul><li>S->P at 48: in dbSNP rsrs34466747<li>Y->F at 140: in dbSNP rsrs34750053<li>V->M at 254: in dbSNP rsrs34715198<li>M->T at 301: in dbSNP rsrs33920561<li>M->I at 342: in a lung small cell carcinoma sample; somatic mutation</ul>									<li>rs34750053</li><li>rs33920561</li><li>rs34466747</li><li>rs34715198</li>	2
Q9H5L6	79725	<ul><li>M->I at 284: in dbSNP:rs1031639<li>L->F at 299: in dbSNP:rs897945<li>N->D at 812: in dbSNP:rs6535411</ul>									<li>rs897945</li><li>rs6535411</li><li>rs1031639</li>	2
Q9H5Q4	64216	<ul><li>P->L at 156: in dbSNP:rs11585481<li>H->Y at 264: in dbSNP:rs12037377</ul>									<li>rs12037377</li><li>rs11585481</li>	2
Q9H5U6	29063	<ul><li>P->L at 382: in dbSNP:rs3752873<li>L->H at 396: in dbSNP:rs315675</ul>									<li>rs315675</li><li>rs3752873</li>	2
Q9H5V8	64866	<ul><li>R->Q at 525: in dbSNP:rs3749191<li>A->V at 673: in dbSNP:rs35428731<li>G->D at 709: in dbSNP:rs9874077</ul>									<li>rs35428731</li><li>rs9874077</li><li>rs3749191</li>	2
Q9H5Y7	84189	<ul><li>L->F at 25: in dbSNP:rs12863734<li>P->R at 315: in dbSNP:rs9547378<li>Q->R at 414: in dbSNP:rs17080147</ul>									<li>rs9547378</li><li>rs12863734</li><li>rs17080147</li>	2
Q9H5Z1	60625	<ul><li>I->T at 189: in dbSNP:rs36053162<li>P->L at 703: in dbSNP:rs3752302</ul>									<li>rs3752302</li><li>rs36053162</li>	2
Q9H607	79629	<ul><li>R->L at 42: in dbSNP:rs10425488<li>A->G at 109: in dbSNP:rs891203</ul>									<li>rs10425488</li><li>rs891203</li>	2
Q9H609	79177	<ul><li>P->L at 81: in dbSNP:rs17849705</ul>									rs17849705	2
Q9H611	80119	<ul><li>I->N at 640: in dbSNP:rs17802279</ul>									rs17802279	2
Q9H628	79785	<ul><li>M->V at 163: in dbSNP:rs941048</ul>									rs941048	2
Q9H633	79897	<ul><li>Q->H at 77: in dbSNP:rs6986<li>Q->K at 149: in dbSNP:rs974963</ul>									<li>rs6986</li><li>rs974963</li>	2
Q9H649	63899	<ul><li>A->V at 295: in dbSNP:rs17854922</ul>									rs17854922	2
Q9H665	79713	<ul><li>W->R at 189: in dbSNP:rs34562867</ul>									rs34562867	2
Q9H668	79991	<ul><li>T->A at 151: in dbSNP:rs2487999<li>S->C at 248: in dbSNP:rs10786775</ul>									<li>rs2487999</li><li>rs10786775</li>	2
Q9H694	80114	<ul><li>G->D at 8: in dbSNP:rs7905025<li>S->P at 943: in dbSNP:rs4948550</ul>									<li>rs7905025</li><li>rs4948550</li>	2
Q9H6A0	79961	<ul><li>S->N at 282: in dbSNP:rs35742969</ul>									rs35742969	2
Q9H6A9	399909	<ul><li>Q->R at 258: in dbSNP:rs1151489<li>S->C at 458: in dbSNP:rs1193851<li>K->N at 813: in dbSNP:rs1144790</ul>									<li>rs1144790</li><li>rs1193851</li><li>rs1151489</li>	2
Q9H6B1	79750	<ul><li>A->T at 386: in a colorectal cancer sample; somatic mutation<li>H->Q at 387: in a colorectal cancer sample; somatic mutation</ul>										2
Q9H6B4	79827	<ul><li>R->H at 69: in dbSNP:rs2276348</ul>									rs2276348	2
Q9H6E5	64852	<ul><li>L->F at 442: in dbSNP:rs3197865</ul>									rs3197865	2
Q9H6F5	79080	<ul><li>Q->H at 153: in dbSNP:rs2074421</ul>									rs2074421	2
Q9H6K4	80207	<ul><li>G->S at 93: in OPA3, MIM: 165300<li>Q->E at 105: in OPA3, MIM: 165300</ul>							Q9H6K4	Optic atrophy type 3 (OPA3) [MIM:165300]		2
Q9H6L2	79583	<ul><li>L->V at 6: in dbSNP rsrs3743601</ul>									rs3743601	2
Q9H6L5	54463	<ul><li>Q->E at 379: in dbSNP:rs34432513</ul>									rs34432513	2
Q9H6Q3	84174	<ul><li>V->M at 210: in dbSNP:rs34834764</ul>									rs34834764	2
Q9H6Q4	64428	<ul><li>V->M at 38: in dbSNP:rs8045850<li>H->R at 444: in dbSNP:rs7188554</ul>									<li>rs7188554</li><li>rs8045850</li>	2
Q9H6R4	65083	<ul><li>P->S at 52: in dbSNP:rs10971523<li>R->W at 723: in dbSNP:rs35135082</ul>									<li>rs10971523</li><li>rs35135082</li>	2
Q9H6R6	64429	<ul><li>D->N at 41: in dbSNP:rs34350728</ul>									rs34350728	2
Q9H6R7	80304	<ul><li>T->M at 102: in dbSNP:rs3731620<li>P->S at 454: in a breast cancer sample; somatic mutation</ul>									rs3731620	2
Q9H6T0	80004	<ul><li>S->L at 111: in dbSNP:rs12597504<li>A->V at 528: in dbSNP:rs3743738</ul>									<li>rs3743738</li><li>rs12597504</li>	2
Q9H6U8	79796	<ul><li>A->P at 232: in dbSNP:rs36111204<li>S->L at 255: in dbSNP:rs17113312<li>Y->C at 287: in CDG1L; impairs activity, MIM: 608776<li>V->I at 289: in dbSNP:rs10502151, MIM: 608776<li>P->L at 506, MIM: 608776<li>E->K at 523: in CDG1L; impairs activity, MIM: 608776<li>I->S at 528: in dbSNP:rs12575909, MIM: 608776</ul>								Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]	<li>rs10502151</li><li>rs12575909</li><li>rs17113312</li><li>rs36111204</li>	2
Q9H6X2	84168	<ul><li>R->K at 7: in dbSNP:rs28365986</ul>									rs28365986	2
Q9H6Y2	54853	<ul><li>R->C at 50: in dbSNP:rs34342435<li>R->C at 151: in dbSNP:rs2530245<li>S->F at 210: in dbSNP:rs2286394<li>Y->C at 235: in dbSNP:rs35983033</ul>									<li>rs2286394</li><li>rs35983033</li><li>rs2530245</li><li>rs34342435</li>	2
Q9H6Y5	79917	<ul><li>R->H at 53: in dbSNP:rs5906744<li>H->R at 112: in dbSNP:rs5906744<li>V->L at 173: in dbSNP:rs5905720<li>F->L at 323: in dbSNP:rs4824462</ul>									<li>rs5905720</li><li>rs4824462</li><li>rs5906744</li>	2
Q9H6Y7	26001	<ul><li>N->K at 121: in dbSNP:rs1127356</ul>									rs1127356	2
Q9H6Z4	8498	<ul><li>A->V at 314: in dbSNP:rs10417885</ul>									rs10417885	2
Q9H6Z9	112399	<ul><li>V->L at 136: in dbSNP:rs17102002<li>S->T at 234: in dbSNP:rs17101995</ul>									<li>rs17102002</li><li>rs17101995</li>	2
Q9H706	64762	<ul><li>T->N at 243: in dbSNP:rs671138<li>K->R at 291: in dbSNP:rs3744921<li>A->V at 490: in dbSNP:rs16962974<li>V->I at 580: in dbSNP:rs3891458<li>T->M at 720: in dbSNP:rs2276374</ul>									<li>rs671138</li><li>rs3891458</li><li>rs3744921</li><li>rs2276374</li><li>rs16962974</li>	2
Q9H707	79818	<ul><li>W->C at 242: in dbSNP:rs2288538</ul>									rs2288538	2
Q9H714	80183	<ul><li>G->R at 152: in dbSNP:rs1408184</ul>									rs1408184	2
Q9H720	80157	<ul><li>T->P at 2: in dbSNP:rs3747690<li>N->H at 689: in dbSNP:rs1051447</ul>									<li>rs3747690</li><li>rs1051447</li>	2
Q9H741	79794	<ul><li>Q->R at 55: in dbSNP:rs10507274</ul>									rs10507274	2
Q9H772	64388	<ul><li>V->I at 131: in dbSNP:rs34188522</ul>									rs34188522	2
Q9H777	55520	<ul><li>M->V at 355: in dbSNP rsrs34524743</ul>									rs34524743	2
Q9H788	63898	<ul><li>E->G at 209: in dbSNP:rs35647122<li>E->G at 216: in dbSNP:rs4921637<li>G->A at 263: in dbSNP:rs877386<li>S->N at 275: in dbSNP:rs34608771</ul>									<li>rs34608771</li><li>rs4921637</li><li>rs35647122</li><li>rs877386</li>	2
Q9H790	64789	<ul><li>D->N at 115: in dbSNP:rs1134586<li>G->V at 172: in dbSNP:rs11208299</ul>									<li>rs11208299</li><li>rs1134586</li>	2
Q9H792	79834	<ul><li>G->R at 213: in dbSNP rsrs35459975<li>V->I at 240: in dbSNP rsrs56129428<li>S->P at 440: in dbSNP rsrs35335169<li>H->Q at 611: in a bladder carcinoma NOS sample; somatic mutation<li>S->I at 792: in dbSNP rsrs34885462<li>D->E at 836: in dbSNP rsrs56388121<li>S->F at 1035: in a metastatic melanoma sample; somatic mutation<li>R->K at 1071: in dbSNP rsrs12909704<li>T->P at 1077: in dbSNP rsrs56133554<li>P->L at 1145: in a metastatic melanoma sample; somatic mutation<li>P->Q at 1408: in dbSNP rsrs56079860<li>S->T at 1542: in dbSNP rsrs1867780<li>R->G at 1699: in dbSNP rsrs34004337</ul>							<li>O61608</li><li>O61309</li><li>O54705</li><li>Q26240</li><li>Q28969</li><li>Q9I9M2</li>		<li>rs1867780</li><li>rs56133554</li><li>rs56129428</li><li>rs35459975</li><li>rs34004337</li><li>rs56079860</li><li>rs34885462</li><li>rs56388121</li><li>rs12909704</li><li>rs35335169</li>	2
Q9H799	65250	<ul><li>I->T at 318: in dbSNP:rs6859950<li>F->C at 913: in dbSNP:rs10076911<li>I->V at 1023: in dbSNP:rs6884652<li>P->L at 1472: in dbSNP:rs16903518<li>G->R at 1960: in dbSNP:rs7702892</ul>									<li>rs7702892</li><li>rs10076911</li><li>rs6859950</li><li>rs6884652</li><li>rs16903518</li>	2
Q9H7B2	84154	<ul><li>A->G at 41: in dbSNP:rs9320350<li>G->S at 60: in dbSNP:rs6909298</ul>									<li>rs9320350</li><li>rs6909298</li>	2
Q9H7B7	80099	<ul><li>E->K at 32: in dbSNP:rs9719534</ul>									rs9719534	2
Q9H7C9	28971	<ul><li>V->M at 92: in dbSNP:rs2186564</ul>									rs2186564	2
Q9H7D0	80005	<ul><li>Q->R at 250: in dbSNP:rs17053341<li>Q->R at 1023: in dbSNP:rs2271111<li>K->R at 1285: in dbSNP:rs2659585<li>E->K at 1836: in dbSNP:rs35688737</ul>									<li>rs2659585</li><li>rs2271111</li><li>rs17053341</li><li>rs35688737</li>	2
Q9H7H0	64745	<ul><li>G->A at 289: in dbSNP:rs2297717<li>A->P at 346: in dbSNP:rs2771350</ul>									<li>rs2297717</li><li>rs2771350</li>	2
Q9H7M9	64115	<ul><li>E->D at 187: in dbSNP:rs3747869</ul>									rs3747869	2
Q9H7N4	58506	<ul><li>T->A at 895: in dbSNP:rs3745470<li>M->T at 1146: in dbSNP:rs2304208</ul>									<li>rs3745470</li><li>rs2304208</li>	2
Q9H7P9	64857	<ul><li>T->I at 540: in dbSNP:rs35904695<li>I->V at 622: in dbSNP:rs16973407<li>R->H at 647: in dbSNP:rs10407035<li>K->R at 992: in dbSNP:rs31726<li>A->T at 1302: in dbSNP:rs34603507<li>A->P at 1329: in dbSNP:rs31728</ul>									<li>rs35904695</li><li>rs34603507</li><li>rs10407035</li><li>rs16973407</li><li>rs31728</li><li>rs31726</li>	2
Q9H7R0	79973	<ul><li>I->V at 93: in dbSNP:rs10423273<li>P->T at 110: in dbSNP:rs10415207<li>P->S at 152: in a colorectal cancer sample; somatic mutation; dbSNP:rs10414971<li>C->S at 243: in a colorectal cancer sample; somatic mutation<li>G->R at 422: in dbSNP:rs11085808<li>R->C at 443: in dbSNP:rs10500210</ul>									<li>rs10414971</li><li>rs11085808</li><li>rs10423273</li><li>rs10500210</li><li>rs10415207</li>	2
Q9H7R5		<ul><li>A->V at 19: in dbSNP:rs12460170<li>R->H at 92: in dbSNP:rs4801959<li>I->V at 582: in dbSNP:rs4801958</ul>									<li>rs4801959</li><li>rs4801958</li><li>rs12460170</li>	2
Q9H7T9	79000	<ul><li>K->T at 82: in dbSNP:rs34449716</ul>									rs34449716	2
Q9H7U1	54462	<ul><li>N->S at 84: in dbSNP:rs3814205<li>C->Y at 755: in dbSNP:rs11201058<li>S->P at 819: in dbSNP:rs11557865<li>P->S at 821: in dbSNP:rs12569751</ul>									<li>rs11557865</li><li>rs12569751</li><li>rs11201058</li><li>rs3814205</li>	2
Q9H7V2	79953	<ul><li>G->R at 54: in dbSNP:rs6083553</ul>									rs6083553	2
Q9H7Y0	79742	<ul><li>R->K at 128: in dbSNP:rs1132201<li>R->Q at 146: in dbSNP:rs9969</ul>									<li>rs1132201</li><li>rs9969</li>	2
Q9H7Z7	80142	<ul><li>R->H at 298: in dbSNP:rs13283456</ul>									rs13283456	2
Q9H813	55248	<ul><li>K->N at 336: in a breast cancer sample; somatic mutation</ul>										2
Q9H814	51808	<ul><li>R->C at 82: in dbSNP:rs3734173</ul>									rs3734173	2
Q9H816	64858	<ul><li>R->L at 46: in dbSNP:rs28381069<li>H->Y at 61: in dbSNP:rs11552449<li>D->N at 462: in dbSNP:rs28381079<li>N->Y at 510: in dbSNP:rs35397235</ul>									<li>rs28381079</li><li>rs28381069</li><li>rs35397235</li><li>rs11552449</li>	2
Q9H845	28976	<ul><li>R->Q at 477: in dbSNP:rs4494951</ul>									rs4494951	2
Q9H857	64943	<ul><li>S->R at 91: in dbSNP:rs35920544</ul>									rs35920544	2
Q9H869	55249	<ul><li>G->S at 412: in dbSNP:rs35098429<li>E->Q at 786: in dbSNP:rs7539</ul>									<li>rs7539</li><li>rs35098429</li>	2
Q9H875	79706	<ul><li>S->A at 7: in dbSNP:rs6951185<li>D->Y at 106: in dbSNP:rs11556160</ul>									<li>rs6951185</li><li>rs11556160</li>	2
Q9H892	54970	<ul><li>L->M at 73: in dbSNP:rs723077<li>M->L at 468: in dbSNP:rs35852218</ul>									<li>rs723077</li><li>rs35852218</li>	2
Q9H898	79698	<ul><li>T->A at 201: in dbSNP:rs17851751</ul>									rs17851751	2
Q9H8E8	57325	<ul><li>P->L at 214: in dbSNP:rs6081011<li>G->V at 400: in dbSNP:rs1205193<li>R->T at 442: in dbSNP:rs2295182<li>P->R at 600: in dbSNP:rs11557577<li>A->S at 738: in dbSNP:rs6081027</ul>									<li>rs1205193</li><li>rs6081027</li><li>rs2295182</li><li>rs11557577</li><li>rs6081011</li>	2
Q9H8H0	25926	<ul><li>V->A at 115: in dbSNP:rs2291284</ul>									rs2291284	2
Q9H8H2	64794	<ul><li>E->K at 153: in dbSNP:rs17402080<li>R->Q at 687: in dbSNP:rs34246652<li>I->V at 799: in dbSNP:rs306547<li>R->Q at 843: in dbSNP:rs306548</ul>									<li>rs17402080</li><li>rs306548</li><li>rs306547</li><li>rs34246652</li>	2
Q9H8H3	25840	<ul><li>A->T at 134: in dbSNP:rs28372674</ul>									rs28372674	2
Q9H8J5	54682	<ul><li>V->I at 55: in dbSNP:rs3741798<li>D->N at 165: in dbSNP:rs17375215<li>N->Y at 375: in dbSNP:rs3741803</ul>									<li>rs3741798</li><li>rs17375215</li><li>rs3741803</li>	2
Q9H8L6	79812	<ul><li>S->G at 49: in dbSNP:rs3750823<li>V->M at 448: in a colorectal cancer sample; somatic mutation<li>D->H at 731: in dbSNP:rs4934281<li>S->R at 831: in dbSNP:rs36073867<li>V->L at 910: in dbSNP:rs34587013</ul>									<li>rs36073867</li><li>rs34587013</li><li>rs4934281</li><li>rs3750823</li>	2
Q9H8M1	80219	<ul><li>L->F at 48: in dbSNP:rs34946819</ul>									rs34946819	2
Q9H8M2	65980	<ul><li>A->T at 170: in dbSNP:rs34292369<li>A->T at 293: in dbSNP:rs414349</ul>									<li>rs414349</li><li>rs34292369</li>	2
Q9H8M9	84141	<ul><li>R->H at 150: in dbSNP:rs11126472</ul>									rs11126472	2
Q9H8V3	1894	<ul><li>S->T at 15: in dbSNP:rs34703432<li>T->P at 802: in a breast cancer sample; somatic mutation</ul>									rs34703432	2
Q9H8W5	80263	<ul><li>R->Q at 353: in dbSNP:rs34863850<li>C->Y at 375: in dbSNP:rs749902<li>R->Q at 413: in dbSNP:rs3738413<li>M->T at 496: in dbSNP:rs1289658</ul>									<li>rs1289658</li><li>rs34863850</li><li>rs749902</li><li>rs3738413</li>	2
Q9H8X2	64768	<ul><li>R->W at 277: in dbSNP:rs2277168<li>L->F at 376: in dbSNP:rs2277170</ul>									<li>rs2277168</li><li>rs2277170</li>	2
Q9H8X3		<ul><li>S->C at 27: in dbSNP:rs6926145<li>W->R at 91: in dbSNP:rs1078211<li>K->R at 119: in dbSNP:rs1078208</ul>									<li>rs6926145</li><li>rs1078211</li><li>rs1078208</li>	2
Q9H8X9	79844	<ul><li>L->S at 325: in dbSNP:rs2878468<li>R->Q at 341: in dbSNP:rs1809008<li>R->H at 372: in dbSNP:rs3747738</ul>									<li>rs3747738</li><li>rs2878468</li><li>rs1809008</li>	2
Q9H8Y1	55237	<ul><li>L->F at 53: in dbSNP:rs2232032<li>V->M at 133: in a colorectal cancer sample; somatic mutation</ul>									rs2232032	2
Q9H8Y5	55139	<ul><li>R->W at 569: in dbSNP:rs2293076<li>P->L at 676: in dbSNP:rs2293079</ul>									<li>rs2293079</li><li>rs2293076</li>	2
Q9H8Y8	26003	<ul><li>S->F at 432: in dbSNP:rs3770436</ul>									rs3770436	2
Q9H900	55055	<ul><li>S->G at 344: in dbSNP:rs11071896</ul>									rs11071896	2
Q9H902	65055	<ul><li>A->E at 20: in SPG31, MIM: 610250</ul>								Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]		2
Q9H936	79751	<ul><li>P->L at 206: in EIEE3, MIM: 609304</ul>								Early infantile epileptic encephalopathy type 3 (EIEE3) [MIM:609304]		2
Q9H943	79741	<ul><li>A->G at 388: in dbSNP:rs4448627<li>M->T at 510: in dbSNP:rs2504011<li>I->V at 607: in dbSNP:rs1418538</ul>									<li>rs1418538</li><li>rs4448627</li><li>rs2504011</li>	2
Q9H967	79968	<ul><li>A->S at 153: in dbSNP:rs678084<li>S->G at 614: in dbSNP:rs3742985</ul>									<li>rs3742985</li><li>rs678084</li>	2
Q9H972	60686	<ul><li>A->V at 190: in dbSNP:rs3829409</ul>									rs3829409	2
Q9H981	93973	<ul><li>T->I at 56: in dbSNP:rs3733082</ul>									rs3733082	2
Q9H987	79933	<ul><li>P->L at 707: in dbSNP:rs3812629<li>S->Y at 833: in dbSNP:rs34163229</ul>									<li>rs3812629</li><li>rs34163229</li>	2
Q9H992	64844	<ul><li>T->S at 100: in dbSNP:rs17813964<li>T->I at 193: in dbSNP:rs16844275<li>G->S at 379: in dbSNP:rs13024801</ul>									<li>rs13024801</li><li>rs16844275</li><li>rs17813964</li>	2
Q9H993	79624	<ul><li>K->N at 73: in dbSNP:rs35036943<li>P->R at 77: in dbSNP:rs17850732<li>G->E at 150: in dbSNP:rs35734927<li>S->A at 154: in dbSNP:rs34437617<li>H->P at 161: in dbSNP:rs36037706<li>I->V at 264: in dbSNP:rs35989216<li>A->T at 317: in dbSNP:rs35972078</ul>									<li>rs36037706</li><li>rs34437617</li><li>rs35734927</li><li>rs35989216</li><li>rs35972078</li><li>rs17850732</li><li>rs35036943</li>	2
Q9H9A5	25904	<ul><li>T->S at 348: in dbSNP:rs11558687<li>P->S at 736: in dbSNP:rs17849684</ul>									<li>rs17849684</li><li>rs11558687</li>	2
Q9H9A6	55631	<ul><li>Q->P at 53: in dbSNP:rs270495<li>I->V at 500: in dbSNP:rs3180401</ul>									<li>rs3180401</li><li>rs270495</li>	2
Q9H9A7	80010	<ul><li>Y->H at 100: in dbSNP:rs17855932<li>S->N at 455: in dbSNP:rs1982151</ul>									<li>rs1982151</li><li>rs17855932</li>	2
Q9H9B1	79813	<ul><li>A->V at 12: in a breast cancer sample; somatic mutation<li>A->T at 357: in dbSNP:rs11137198<li>Y->F at 1142: in a breast cancer sample; somatic mutation</ul>									rs11137198	2
Q9H9B4	94081	<ul><li>N->S at 26: in dbSNP:rs17065105<li>P->S at 266: in dbSNP:rs34907038</ul>									<li>rs17065105</li><li>rs34907038</li>	2
Q9H9D4	79797	<ul><li>R->P at 337: in dbSNP:rs36017347</ul>									rs36017347	2
Q9H9F9	79913	<ul><li>R->L at 298: in dbSNP:rs17853829<li>I->L at 461: in dbSNP:rs35805905<li>I->V at 483: in dbSNP:rs2245231<li>P->L at 580: in dbSNP:rs3752289</ul>									<li>rs3752289</li><li>rs35805905</li><li>rs17853829</li><li>rs2245231</li>	2
Q9H9J2	65080	<ul><li>T->I at 138: in dbSNP:rs11546406</ul>									rs11546406	2
Q9H9L3	81875	<ul><li>N->S at 130: in dbSNP:rs3795737</ul>									rs3795737	2
Q9H9L4	54934	<ul><li>N->S at 313: in dbSNP:rs17238800<li>T->P at 445: in dbSNP:rs3741628</ul>									<li>rs17238800</li><li>rs3741628</li>	2
Q9H9P5	64718	<ul><li>R->Q at 152: in dbSNP:rs35080336</ul>									rs35080336	2
Q9H9P8	79944	<ul><li>R->L at 18: in dbSNP:rs2275591<li>G->D at 55: in L2HGA, MIM: 236792<li>G->R at 57: in L2HGA, MIM: 236792<li>K->E at 81: in L2HGA; alters protein processing and abolishes catalytic activity, MIM: 236792<li>H->R at 98: in L2HGA, MIM: 236792<li>H->Y at 98: in L2HGA, MIM: 236792<li>E->D at 176: in L2HGA; alters protein processing and abolishes catalytic activity, MIM: 236792<li>Y->F at 178, MIM: 236792<li>P->L at 302: in L2HGA, MIM: 236792<li>H->P at 434: in L2HGA, MIM: 236792</ul>	protein processing	GO:0016485	catalytic activity	GO:0003824				L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	rs2275591	2
Q9H9Q4	79840	<ul><li>A->T at 14: in dbSNP:rs34689457<li>R->G at 57: in NHEJ1-SCID; fails to translocate to the nucleus, MIM: 611291<li>H->R at 89: in dbSNP:rs1056296, MIM: 611291<li>C->R at 123: in NHEJ1-SCID, MIM: 611291<li>Q->L at 256: in dbSNP:rs35270667, MIM: 611291</ul>					nucleus	GO:0005634	Q9H9Q4	Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]	<li>rs35270667</li><li>rs1056296</li><li>rs34689457</li>	2
Q9H9S0	79923	<ul><li>K->N at 82: in dbSNP:rs2889551</ul>									rs2889551	2
Q9H9S5	79147	<ul><li>R->W at 54: in LGMD2I: in dbSNP rsrs28937905, MIM: 607155<li>A->G at 114: in MDC1C; could be a polymorphism, MIM: 606612<li>Missing  at 143-146: in LGMD2I, MIM: 606612<li>R->S at 143: in LGMD2I, MIM: 607155<li>P->T at 217: in MDC1C, MIM: 606612<li>S->R at 221: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937902, MIM: 606612<li>L->I at 276: in LGMD2I: in dbSNP rsrs28937900, MIM: 607155<li>Y->N at 307: in LGMD2I and MEB, MIM: 253280<li>Y->C at 309: in MDC1C, MIM: 606612<li>R->C at 312: in LGMD2I, MIM: 607155<li>P->T at 315: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937901, MIM: 606612<li>P->R at 316: in MDC1C and LGMD2I, MIM: 607155<li>P->S at 316: in LGMD2I, MIM: 607155<li>C->Y at 318: in WWS, MIM: 236670<li>Y->S at 328: in MDC1C, MIM: 606612<li>R->H at 339: in MDC1C, MIM: 606612<li>R->L at 339: in LGMD2I, MIM: 607155<li>D->N at 360: in LGMD2I, MIM: 607155<li>D->N at 401: in MDC1C, MIM: 606612<li>V->L at 405: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937904, MIM: 606612<li>P->L at 448: in MDC1C, MIM: 606612<li>A->D at 455: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937903, MIM: 606612<li>P->S at 462: in LGMD2I, MIM: 607155<li>Y->S at 465: in MDC1C, MIM: 606612</ul>								<li>Muscle-eye-brain disease (MEB) [MIM:253280]</li><li>Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]</li><li>Walker-Warburg syndrome (WWS) [MIM:236670]</li><li>Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]</li>	<li>rs28937905</li><li>rs28937900</li><li>rs28937901</li><li>rs28937902</li><li>rs28937903</li><li>rs28937904</li>	2
Q9H9V9	65094	<ul><li>A->V at 11: in dbSNP:rs7419238<li>G->C at 16: in dbSNP:rs34560898<li>D->E at 65: in dbSNP:rs2295994<li>A->V at 461: in dbSNP:rs3087908</ul>									<li>rs3087908</li><li>rs2295994</li><li>rs7419238</li><li>rs34560898</li>	2
Q9H9Y2	80135	<ul><li>S->G at 9: in dbSNP:rs2292191<li>M->I at 223: in dbSNP:rs7528067</ul>									<li>rs7528067</li><li>rs2292191</li>	2
Q9H9Y4	54707	<ul><li>Q->R at 227: in dbSNP:rs17856257<li>R->G at 264: in dbSNP:rs3170660</ul>									<li>rs3170660</li><li>rs17856257</li>	2
Q9H9Y6	84172	<ul><li>S->L at 295: in dbSNP:rs1545133</ul>									rs1545133	2
Q9HA64	79672	<ul><li>A->V at 57: in dbSNP:rs3748811</ul>									rs3748811	2
Q9HA65	79735	<ul><li>P->L at 99: in dbSNP:rs3745486</ul>									rs3745486	2
Q9HA72	51063	<ul><li>V->G at 136: in dbSNP:rs2232660<li>V->M at 194: in dbSNP:rs2232662</ul>									<li>rs2232660</li><li>rs2232662</li>	2
Q9HA77	79587	<ul><li>E->K at 440: in dbSNP:rs965189<li>Q->P at 555: in dbSNP:rs1043886</ul>									<li>rs1043886</li><li>rs965189</li>	2
Q9HA82	79603	<ul><li>R->Q at 119: in dbSNP:rs17159388<li>G->S at 301: in dbSNP:rs2288413<li>A->T at 366: in dbSNP:rs36259</ul>									<li>rs2288413</li><li>rs36259</li><li>rs17159388</li>	2
Q9HA90	79825	<ul><li>R->Q at 91: in dbSNP:rs3732430</ul>									rs3732430	2
Q9HA92	55316	<ul><li>A->T at 119: in dbSNP:rs2290862<li>L->S at 126: in dbSNP:rs2290861</ul>									<li>rs2290861</li><li>rs2290862</li>	2
Q9HAD4	55255	<ul><li>G->D at 61: in dbSNP:rs389319<li>R->C at 260: in dbSNP:rs17751013<li>V->I at 329: in dbSNP:rs33204</ul>									<li>rs33204</li><li>rs389319</li><li>rs17751013</li>	2
Q9HAH1	80032	<ul><li>R->C at 137: in dbSNP:rs10421121<li>R->L at 146: in dbSNP:rs35499960<li>A->T at 353: in dbSNP:rs35296337<li>E->K at 428: in dbSNP:rs35494032</ul>									<li>rs35494032</li><li>rs35499960</li><li>rs10421121</li><li>rs35296337</li>	2
Q9HAK2	64641	<ul><li>G->S at 559: in dbSNP:rs17054477</ul>									rs17054477	2
Q9HAQ2	64147	<ul><li>V->I at 78: in dbSNP:rs2270569<li>G->A at 96: in dbSNP:rs3733092<li>W->R at 638: in dbSNP:rs2276853</ul>									<li>rs2270569</li><li>rs2276853</li><li>rs3733092</li>	2
Q9HAS3	64078	<ul><li>R->K at 4: in dbSNP rsrs11568401<li>S->N at 5: in dbSNP:rs45530932<li>D->H at 62: in dbSNP rsrs45621433<li>R->K at 67: in dbSNP rsrs11568411<li>Y->C at 113: in dbSNP:rs10868138<li>L->F at 131<li>P->Q at 221: in dbSNP:rs11140503<li>I->V at 328: in dbSNP:rs11568418<li>R->Q at 349: in dbSNP rsrs45525131<li>G->R at 367: reduced transport of inosine and thymidine: in dbSNP rsrs11568388<li>L->I at 418: in dbSNP rsrs11568405<li>Y->F at 513: in dbSNP rsrs56350726<li>R->H at 585: in dbSNP rsrs11568398<li>C->R at 602: lower concentrative capacity and altered sodium binding capacity</ul>	transport	GO:0006810	binding	GO:0005488					<li>rs11568388</li><li>rs11568398</li><li>rs11568411</li><li>rs10868138</li><li>rs11568401</li><li>rs11568405</li><li>rs45525131</li><li>rs45621433</li><li>rs56350726</li><li>rs11568418</li><li>rs11140503</li><li>rs45530932</li>	2
Q9HAT1	79748	<ul><li>R->Q at 105: in dbSNP:rs3803568<li>R->S at 517: in dbSNP:rs1060480</ul>									<li>rs3803568</li><li>rs1060480</li>	2
Q9HAT2	54414	<ul><li>K->R at 71: in dbSNP:rs12282107<li>A->V at 467: in dbSNP:rs7941523</ul>									<li>rs12282107</li><li>rs7941523</li>	2
Q9HAU5	26019	<ul><li>N->S at 496: in dbSNP:rs7079388</ul>									rs7079388	2
Q9HAU8	57140	<ul><li>V->M at 247: in a colorectal cancer sample; somatic mutation</ul>										2
Q9HAV4	57510	<ul><li>S->N at 241: in dbSNP:rs34324334<li>K->N at 610: in dbSNP:rs12173786</ul>									<li>rs34324334</li><li>rs12173786</li>	2
Q9HAV5	60401	<ul><li>R->K at 57: in dbSNP:rs1385699<li>A->T at 129: in dbSNP:rs1385698</ul>									<li>rs1385698</li><li>rs1385699</li>	2
Q9HAW4	63967	<ul><li>H->R at 439: in a breast cancer sample; somatic mutation<li>N->S at 525: in dbSNP:rs7537203<li>P->T at 892: in dbSNP:rs34390044<li>S->L at 1280: in dbSNP:rs35490896</ul>									<li>rs7537203</li><li>rs35490896</li><li>rs34390044</li>	2
Q9HAW7	54577	<ul><li>N->K at 129: in allele UGT1A7*2 and allele UGT1A7*3; dbSNP:rs17868323<li>R->K at 131: in allele UGT1A7*2 and allele UGT1A7*3<li>R->Q at 131: in dbSNP:rs17868324<li>W->R at 208: in allele UGT1A7*3 and allele UGT1A7*4; dbSNP:rs11692021</ul>							<li>Q62452</li><li>Q9HAW7</li><li>Q64633</li>		<li>rs11692021</li><li>rs17868323</li><li>rs17868324</li>	2
Q9HAW8	54575	<ul><li>M->I at 59: in dbSNP rsrs56935833<li>E->K at 139: in dbSNP:rs10187694<li>T->I at 202: in dbSNP rsrs58704432<li>L->I at 244: in dbSNP:rs28969685</ul>									<li>rs58704432</li><li>rs10187694</li><li>rs56935833</li><li>rs28969685</li>	2
Q9HAW9	54576	<ul><li>H->N at 53: in dbSNP:rs45504099<li>K->R at 132<li>G->A at 154<li>A->G at 173: in allele UGT1A8*2; dbSNP:rs1042597<li>T->A at 202<li>M->L at 212<li>C->Y at 277: in allele UGT1A8*3; dramatic reduction in catalytic activity; dbSNP:rs17863762</ul>			catalytic activity	GO:0003824			<li>Q64634</li><li>Q9HAW9</li>		<li>rs1042597</li><li>rs17863762</li><li>rs45504099</li>	2
Q9HAY6	53630	<ul><li>R->S at 267: in dbSNP:rs12934922<li>A->V at 379: in dbSNP:rs7501331</ul>									<li>rs7501331</li><li>rs12934922</li>	2
Q9HAZ1	57396	<ul><li>L->F at 352: in dbSNP rsrs35272416<li>I->V at 363: in dbSNP rsrs55746655</ul>									<li>rs35272416</li><li>rs55746655</li>	2
Q9HAZ2	63976	<ul><li>P->S at 533: in dbSNP:rs870124<li>P->L at 633: in dbSNP:rs2493292</ul>									<li>rs870124</li><li>rs2493292</li>	2
Q9HB09	83596	<ul><li>G->V at 47: in dbSNP:rs2060263</ul>									rs2060263	2
Q9HB14	56659	<ul><li>G->R at 305: in dbSNP:rs3814848<li>G->A at 389: in dbSNP:rs35909577</ul>									<li>rs35909577</li><li>rs3814848</li>	2
Q9HB21	59338	<ul><li>T->A at 320: in dbSNP:rs1045216</ul>									rs1045216	2
Q9HB29	8808	<ul><li>I->T at 237: in dbSNP:rs13405631<li>V->I at 352: in dbSNP:rs33946385<li>L->P at 550: in dbSNP:rs2302612</ul>									<li>rs2302612</li><li>rs33946385</li><li>rs13405631</li>	2
Q9HB31		<ul><li>S->L at 212: in dbSNP:rs9910163</ul>									rs9910163	2
Q9HB40	59342	<ul><li>L->V at 3: in dbSNP:rs34108204<li>V->I at 241: in dbSNP:rs16957938</ul>									<li>rs16957938</li><li>rs34108204</li>	2
Q9HB55	64816	<ul><li>YGTHSHKLFKKLGIP at 25-88: in allele CYP3A43*2: in dbSNP rsrs61469810<li>T->A at 27: in dbSNP:rs45558032<li>Missing  at 89-503: in allele CYP3A43*2<li>M->I at 145: in dbSNP:rs45450092<li>M->I at 275: in dbSNP:rs45621431<li>P->A at 340: in allele CYP3A43*3; dbSNP:rs680055</ul>							Q9HB55		<li>rs45450092</li><li>rs45558032</li><li>rs61469810</li><li>rs45621431</li><li>rs680055</li>	2
Q9HB58	3431	<ul><li>M->T at 8: in a breast cancer sample; somatic mutation<li>W->R at 112: in dbSNP:rs1129411<li>A->V at 128: in dbSNP:rs11556887<li>S->L at 173: in dbSNP:rs41552315<li>A->V at 206: in dbSNP:rs28930679<li>E->K at 207: in dbSNP:rs9061<li>S->A at 210: in dbSNP:rs1063154<li>E->G at 212: in dbSNP:rs1047254<li>M->V at 249: in dbSNP:rs3769838<li>E->G at 267: in dbSNP:rs1129425<li>R->G at 299: in dbSNP:rs1365776<li>T->M at 367: in dbSNP rsrs59573011<li>L->S at 425: polymorphism; may be associated with increased susceptibility to tuberculosis; dbSNP:rs3948464<li>M->T at 523: in dbSNP:rs1135791<li>M->I at 579: in dbSNP:rs3948463<li>G->S at 683: in a breast cancer sample; somatic mutation</ul>									<li>rs1047254</li><li>rs1129425</li><li>rs1129411</li><li>rs11556887</li><li>rs59573011</li><li>rs41552315</li><li>rs9061</li><li>rs3769838</li><li>rs3948464</li><li>rs3948463</li><li>rs1063154</li><li>rs28930679</li><li>rs1365776</li><li>rs1135791</li>	2
Q9HB63	59277	<ul><li>Y->H at 205: in dbSNP:rs17288108</ul>									rs17288108	2
Q9HB65	80237	<ul><li>Q->E at 11: in dbSNP:rs2277531<li>W->R at 140: in dbSNP:rs35454865</ul>									<li>rs2277531</li><li>rs35454865</li>	2
Q9HB75	55367	<ul><li>Q->R at 331: in dbSNP:rs10902221</ul>									rs10902221	2
Q9HB96	2178	<ul><li>R->L at 89: in dbSNP rsrs45600543<li>P->Q at 184: in FA; uncertain pathological significance, MIM: 227650<li>S->L at 204: in dbSNP:rs7761870, MIM: 227650<li>G->R at 340: in dbSNP rsrs45524646, MIM: 227650<li>R->Q at 343: in dbSNP rsrs45467798, MIM: 227650<li>A->T at 502: in dbSNP:rs9462088, MIM: 227650</ul>								Fanconi anemia (FA) [MIM:227650]	<li>rs45524646</li><li>rs45600543</li><li>rs45467798</li><li>rs7761870</li><li>rs9462088</li>	2
Q9HBA0	59341	<ul><li>P->S at 19: in dbSNP:rs3742030<li>A->T at 565: in dbSNP:rs11068298<li>R->Q at 616: in brachyolmia type 3; this mutation results in a gain of function and a constitutive activation of the channel, MIM: 113500<li>V->I at 620: in brachyolmia type 3; this mutation results in a gain of function and a constitutive activation of the channel, MIM: 113500</ul>								Brachyolmia type 3 [MIM:113500]	<li>rs3742030</li><li>rs11068298</li>	2
Q9HBB8	53841	<ul><li>S->R at 357: in dbSNP:rs2246614<li>D->N at 389: in dbSNP:rs2306066</ul>									<li>rs2246614</li><li>rs2306066</li>	2
Q9HBE1	23598	<ul><li>E->D at 685: in dbSNP:rs2240424</ul>									rs2240424	2
Q9HBE5	50615	<ul><li>R->C at 191: in dbSNP:rs3093370<li>S->R at 318: in dbSNP:rs3093385<li>G->S at 484: in dbSNP:rs3093386</ul>									<li>rs3093370</li><li>rs3093385</li><li>rs3093386</li>	2
Q9HBF5		<ul><li>L->P at 57: in dbSNP:rs7257</ul>									rs7257	2
Q9HBG4		<ul><li>A->V at 2: in dbSNP:rs10258719<li>G->D at 175: in RTADR, MIM: 602722<li>Missing  at 237: in RTADR, MIM: 602722<li>R->H at 449: in RTADR, MIM: 602722<li>P->L at 524: in RTADR, MIM: 602722<li>M->T at 580: in RTADR; dbSNP:rs3807153, MIM: 602722<li>R->Q at 807: in RTADR, MIM: 602722<li>G->R at 820: in RTADR, MIM: 602722</ul>								Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	rs10258719	2
Q9HBG7	4063	<ul><li>M->V at 602: in dbSNP:rs509749</ul>									rs509749	2
Q9HBH7	55859	<ul><li>V->L at 9: in dbSNP:rs3174500<li>S->N at 11: in dbSNP:rs1045058<li>S->I at 13: in dbSNP:rs1045061<li>M->V at 14: in dbSNP:rs1045063<li>A->V at 17: in dbSNP:rs1045065<li>A->V at 40: in dbSNP:rs709036<li>M->I at 66: in dbSNP:rs1045082</ul>									<li>rs3174500</li><li>rs1045061</li><li>rs1045065</li><li>rs1045082</li><li>rs1045063</li><li>rs1045058</li><li>rs709036</li>	2
Q9HBH9	2872	<ul><li>Q->K at 10: in dbSNP:rs3746101<li>D->N at 73: in dbSNP rsrs56158214<li>R->Q at 428: in dbSNP:rs34475638</ul>									<li>rs56158214</li><li>rs3746101</li><li>rs34475638</li>	2
Q9HBI1	29780	<ul><li>P->R at 52: in dbSNP:rs34476853<li>V->A at 58: in dbSNP:rs1983609</ul>									<li>rs34476853</li><li>rs1983609</li>	2
Q9HBJ7	57663	<ul><li>N->S at 368: in dbSNP:rs1027392<li>E->K at 586: in dbSNP:rs3795003</ul>									<li>rs1027392</li><li>rs3795003</li>	2
Q9HBK9	57412	<ul><li>R->W at 173: rare polymorphism; frequency in African-Americans 0.008; not detected in Caucasian-Americans; enzyme activity is 31% of wild-type; dbSNP:rs35232887<li>M->T at 287: common polymorphism; frequency in African-Americans 0.108 and Caucasian-Americans 0.100; enzyme activity is 350% of wild-type; dbSNP:rs11191439<li>T->I at 306: rare polymorphism; frequency in Caucasian-Americans 0.008; not detected in African-Americans; dbSNP:rs34556438</ul>									<li>rs11191439</li><li>rs34556438</li><li>rs35232887</li>	2
Q9HBL0	7145	<ul><li>I->M at 311: in dbSNP:rs11680854<li>R->C at 466: in dbSNP:rs3815849<li>T->I at 528: in dbSNP:rs3796033<li>R->W at 1004: in dbSNP:rs3796028<li>F->L at 1093: in a breast cancer sample; somatic mutation<li>W->R at 1197: in dbSNP:rs2571445<li>V->I at 1604: in dbSNP:rs918949</ul>									<li>rs918949</li><li>rs2571445</li><li>rs3815849</li><li>rs11680854</li><li>rs3796028</li><li>rs3796033</li>	2
Q9HBL6	57408	<ul><li>E->K at 43: in dbSNP:rs3806633<li>L->V at 117: in dbSNP:rs35540470</ul>									<li>rs3806633</li><li>rs35540470</li>	2
Q9HBL8	57407	<ul><li>T->I at 23: in dbSNP:rs11557236<li>P->L at 252: in dbSNP:rs3747582</ul>									<li>rs11557236</li><li>rs3747582</li>	2
Q9HBM0	55591	<ul><li>T->A at 162: in dbSNP:rs17855933<li>V->I at 496: in dbSNP:rs10507051<li>V->M at 612: in dbSNP:rs17344738<li>S->A at 668: in dbSNP:rs17855934<li>G->D at 762: in dbSNP:rs14121</ul>									<li>rs14121</li><li>rs17344738</li><li>rs10507051</li><li>rs17855934</li><li>rs17855933</li>	2
Q9HBQ8	55592	<ul><li>A->V at 110: in dbSNP:rs12370675</ul>									rs12370675	2
Q9HBR0	124565	<ul><li>K->R at 559: in dbSNP:rs35546507<li>A->G at 831: in dbSNP:rs2725405</ul>									<li>rs35546507</li><li>rs2725405</li>	2
Q9HBT6	28316	<ul><li>M->I at 228: in a breast cancer sample; somatic mutation<li>P->H at 328: in dbSNP:rs1943330<li>Q->R at 371: in dbSNP:rs35923922<li>P->L at 391: in dbSNP:rs17068463<li>P->T at 416: in a breast cancer sample; somatic mutation<li>Q->H at 746: in a breast cancer sample; somatic mutation</ul>									<li>rs35923922</li><li>rs1943330</li><li>rs17068463</li>	2
Q9HBT7		<ul><li>K->T at 274: in dbSNP:rs7224723</ul>									rs7224723	2
Q9HBT8	57335	<ul><li>Y->H at 90: in dbSNP:rs3760299</ul>									rs3760299	2
Q9HBU1	56033	<ul><li>A->T at 48</ul>										2
Q9HBU9	64091	<ul><li>V->I at 29: in dbSNP:rs4688023</ul>									rs4688023	2
Q9HBV1	64208	<ul><li>R->Q at 106: in dbSNP:rs11961225</ul>									rs11961225	2
Q9HBV2	81833	<ul><li>L->S at 237: in dbSNP:rs2276089</ul>									rs2276089	2
Q9HBW1	64101	<ul><li>T->A at 579: in a colorectal cancer sample; somatic mutation</ul>										2
Q9HBW9	64123	<ul><li>V->L at 300: in dbSNP:rs12754818<li>H->Q at 599: in dbSNP:rs1968956<li>A->G at 620: in dbSNP:rs2275902</ul>									<li>rs1968956</li><li>rs12754818</li><li>rs2275902</li>	2
Q9HBX3	27099	<ul><li>T->A at 24: in dbSNP:rs17151639</ul>									rs17151639	2
Q9HBX8	59352	<ul><li>N->K at 267: in dbSNP:rs7553800<li>A->S at 516: in dbSNP:rs6668765<li>G->C at 725: in a colorectal cancer sample; somatic mutation<li>P->H at 928: in a colorectal cancer sample; somatic mutation</ul>									<li>rs6668765</li><li>rs7553800</li>	2
Q9HBY0	50508	<ul><li>T->K at 171: in dbSNP:rs3749930</ul>									rs3749930	2
Q9HBY8	10110	<ul><li>S->T at 12: in dbSNP:rs33969356<li>E->K at 259: in a lung adenocarcinoma sample; somatic mutation<li>H->Y at 349: in dbSNP rsrs35793869</ul>									<li>rs35793869</li><li>rs33969356</li>	2
Q9HBZ2	9915	<ul><li>G->S at 679: in dbSNP:rs4072568</ul>									rs4072568	2
Q9HC10	9381	<ul><li>A->V at 53: in dbSNP rsrs1879761<li>R->C at 82: in dbSNP:rs13031859<li>Q->H at 255: in NSRAN, MIM: 601071<li>P->Q at 490: in DFNB9, MIM: 601071<li>I->T at 515: in DFNB9 and NSRAN; temperature sensitive, MIM: 601071<li>V->M at 575: in dbSNP rsrs55676840, MIM: 601071<li>R->S at 773, MIM: 601071<li>R->H at 794: in DFNB9, MIM: 601071<li>R->W at 818: in dbSNP:rs2272070, MIM: 601071<li>R->W at 822: in DFNB9; uncertain pathogenicity, MIM: 601071<li>A->E at 964: in NSRAN, MIM: 601071<li>L->P at 1011: in NSRAN and DFNB9, MIM: 601071<li>A->P at 1083, MIM: 601071<li>L->P at 1138: in NSRAN, MIM: 601071<li>R->Q at 1157: in dbSNP rsrs56054534, MIM: 601071<li>R->Q at 1236, MIM: 601071<li>D->E at 1322, MIM: 601071<li>E->K at 1323: in a breast cancer sample; somatic mutation, MIM: 601071<li>I->V at 1547: in a breast cancer sample; somatic mutation, MIM: 601071<li>V->M at 1625, MIM: 601071<li>P->S at 1646: in dbSNP:rs17005371, MIM: 601071<li>R->H at 1680: in dbSNP:rs11893228, MIM: 601071<li>T->K at 1688, MIM: 601071<li>F->C at 1795: in NSRAN, MIM: 601071<li>P->A at 1825: in DFNB9; dbSNP:rs28937591, MIM: 601071<li>V->A at 1886: in dbSNP:rs45442103, MIM: 601071<li>G->D at 1888, MIM: 601071<li>R->Q at 1939: in NSRAN, MIM: 601071<li>P->R at 1987: in NSRAN, MIM: 601071</ul>								<li>Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 9 (DFNB9) [MIM:601071]</li>	<li>rs45442103</li><li>rs13031859</li><li>rs2272070</li><li>rs55676840</li><li>rs11893228</li><li>rs28937591</li><li>rs1879761</li><li>rs17005371</li><li>rs56054534</li>	2
Q9HC16	60489	<ul><li>H->R at 186: in dbSNP:rs8177832<li>R->H at 256: in dbSNP:rs17000736<li>Q->E at 275: in dbSNP:rs17496046</ul>									<li>rs8177832</li><li>rs17496046</li><li>rs17000736</li>	2
Q9HC21	60386	<ul><li>G->A at 177: in MCPHA, MIM: 607196</ul>								Microcephaly Amish type (MCPHA) [MIM:607196]		2
Q9HC23	60675	<ul><li>G->R at 32: in KAL4, MIM: 610628<li>R->C at 73: in KAL4, MIM: 610628</ul>								Kallmann syndrome type 4 (KAL4) [MIM:610628]		2
Q9HC24		<ul><li>T->I at 88: in dbSNP:rs8793</ul>									rs8793	2
Q9HC29	64127	<ul><li>L->V at 81: in dbSNP:rs34936594<li>A->T at 140: in CD and ulcerative colitis; dbSNP:rs34684955, MIM: 191390<li>W->R at 157: in CD, MIM: 266600<li>T->M at 189, MIM: 266600<li>R->C at 235: in CD, MIM: 266600<li>L->R at 248: in CD, MIM: 266600<li>P->S at 268: in dbSNP:rs2066842, MIM: 266600<li>N->S at 289: in dbSNP:rs5743271, MIM: 266600<li>D->N at 291: in CD, MIM: 266600<li>T->S at 294: in CD, MIM: 266600<li>A->V at 301: in CD, MIM: 266600<li>R->W at 311: in CD; also in ulcerative colitis, MIM: 266600<li>R->Q at 334: in BS, MIM: 186580<li>R->W at 334: in BS, MIM: 186580<li>L->V at 348: in CD, MIM: 266600<li>H->R at 352: in CD; dbSNP:rs5743272, MIM: 266600<li>R->C at 373: in CD, MIM: 266600<li>D->E at 382: in EOS, MIM: 609464<li>E->K at 383: in BS, MIM: 186580<li>N->S at 414: in CD, MIM: 266600<li>S->L at 431: in CD, MIM: 266600<li>A->V at 432: in CD; dbSNP:rs2076754, MIM: 266600<li>E->K at 441: in CD, MIM: 266600<li>L->F at 469: in BS, MIM: 186580<li>R->C at 471: in dbSNP:rs1078327, MIM: 186580<li>H->L at 496: in EOS, MIM: 609464<li>A->T at 612: in CD and EOS, MIM: 609464<li>A->V at 612: in CD, MIM: 266600<li>R->W at 684: in CD; dbSNP:rs5743276, MIM: 266600<li>R->W at 702: in CD; risk factor for CD; dbSNP:rs2066844, MIM: 266600<li>R->C at 703: in CD; also in ulcerative colitis; dbSNP:rs5743277, MIM: 266600<li>R->C at 713: in CD, MIM: 266600<li>A->G at 725: in CD; dbSNP:rs5743278, MIM: 266600<li>A->V at 755: in CD; also in ulcerative colitis, MIM: 266600<li>A->V at 758: in CD, MIM: 266600<li>E->K at 778: in CD, MIM: 266600<li>R->Q at 790: in dbSNP:rs5743279, MIM: 266600<li>V->M at 793: in CD, MIM: 266600<li>E->K at 843: in CD, MIM: 266600<li>N->S at 853: in CD, MIM: 266600<li>M->V at 863: in CD, MIM: 266600<li>A->T at 885: in ulcerative colitis, MIM: 191390<li>G->R at 908: in CD; dbSNP:rs2066845, MIM: 266600<li>A->D at 918: in CD; risk factor for CD, MIM: 266600<li>G->D at 924: in CD, MIM: 266600<li>V->I at 955: in dbSNP:rs5743291, MIM: 266600</ul>								<li>Blau syndrome (BS) [MIM:186580]</li><li>Crohn disease (CD) [MIM:266600]</li><li>Ulcerative colitis [MIM:191390]</li><li>Early-onset sarcoidosis (EOS) [MIM:609464]</li>	<li>rs2066844</li><li>rs2066845</li><li>rs2076754</li><li>rs5743279</li><li>rs34684955</li><li>rs5743277</li><li>rs1078327</li><li>rs5743278</li><li>rs5743291</li><li>rs2066842</li><li>rs5743272</li><li>rs5743271</li><li>rs34936594</li><li>rs5743276</li>	2
Q9HC35	27436	<ul><li>E->K at 283: in dbSNP:rs6736913<li>V->I at 382: in dbSNP:rs10202624<li>K->R at 398: in dbSNP:rs28651764<li>S->L at 978: in dbSNP:rs28364731</ul>									<li>rs28364731</li><li>rs28651764</li><li>rs10202624</li><li>rs6736913</li>	2
Q9HC36	55178	<ul><li>A->S at 8: in dbSNP:rs2273454<li>G->E at 45: in dbSNP:rs2249542<li>I->V at 185: in dbSNP:rs17854653<li>E->Q at 326: in dbSNP:rs35780267</ul>									<li>rs35780267</li><li>rs17854653</li><li>rs2273454</li><li>rs2249542</li>	2
Q9HC38	51031	<ul><li>M->I at 282: in dbSNP:rs17851349</ul>									rs17851349	2
Q9HC44	60313	<ul><li>P->S at 192: in dbSNP:rs36067922<li>R->H at 439: in dbSNP:rs12093126</ul>									<li>rs12093126</li><li>rs36067922</li>	2
Q9HC52	57332	<ul><li>G->V at 317: in dbSNP:rs4889891</ul>									rs4889891	2
Q9HC57	58189	<ul><li>V->M at 138: in a breast cancer sample; somatic mutation: in dbSNP rsrs11643870<li>L->V at 196: in dbSNP:rs35504166<li>K->R at 217: in dbSNP:rs12933084</ul>									<li>rs11643870</li><li>rs35504166</li><li>rs12933084</li>	2
Q9HC58	57419	<ul><li>L->P at 49: in dbSNP:rs3790174<li>V->I at 55: in dbSNP:rs1569767<li>V->I at 168: in dbSNP:rs3790267<li>G->S at 271: in dbSNP:rs6136807</ul>									<li>rs1569767</li><li>rs6136807</li><li>rs3790267</li><li>rs3790174</li>	2
Q9HC62	59343	<ul><li>T->K at 301: in dbSNP:rs6762208</ul>									rs6762208	2
Q9HC77	55835	<ul><li>M->V at 21: in dbSNP:rs35498994<li>P->A at 55: in dbSNP:rs17081389<li>D->H at 63: in dbSNP:rs7336216<li>P->T at 85: in dbSNP:rs9511510<li>E->G at 151: in dbSNP:rs34177811<li>S->A at 879: in dbSNP:rs17402892<li>E->V at 1235: in MCPH6, MIM: 608393</ul>								Primary microcephaly autosomal recessive type 6 (MCPH6) [MIM:608393]	<li>rs34177811</li><li>rs7336216</li><li>rs17081389</li><li>rs17402892</li><li>rs9511510</li><li>rs35498994</li>	2
Q9HC84	727897	<ul><li>T->S at 5137: in dbSNP:rs2672788</ul>									rs2672788	2
Q9HC96	11132	<ul><li>P->T at 200: in dbSNP:rs3792268<li>R->H at 202<li>E->G at 276: in a colorectal cancer sample; somatic mutation<li>A->V at 341<li>T->A at 504: in dbSNP:rs7607759<li>A->S at 529<li>S->N at 613<li>V->I at 666: in dbSNP:rs2975766</ul>									<li>rs2975766</li><li>rs3792268</li><li>rs7607759</li>	2
Q9HC97	2859	<ul><li>A->T at 25: in dbSNP:rs35146537<li>V->I at 29<li>V->M at 76: in dbSNP:rs13387859<li>T->M at 108: in dbSNP:rs3749171<li>R->S at 125: in dbSNP:rs34778053<li>T->M at 253: in dbSNP rsrs12468485<li>S->R at 294: in dbSNP:rs3749172</ul>									<li>rs3749171</li><li>rs12468485</li><li>rs13387859</li><li>rs3749172</li><li>rs34778053</li><li>rs35146537</li>	2
Q9HCC0	64087	<ul><li>E->Q at 99: in MCC2 deficiency; severe and mild form: in dbSNP rsrs28934883, MIM: 210210<li>R->Q at 155: in MCC2 deficiency; mild form, MIM: 210210<li>C->R at 167: in MCC2 deficiency: in dbSNP rsrs28934884, MIM: 210210<li>S->L at 173: in MCC2 deficiency; severe form, MIM: 210210<li>R->C at 193: in MCC2 deficiency; mild form, MIM: 210210<li>A->T at 218: in MCC2 deficiency, MIM: 210210<li>R->T at 268: in MCC2 deficiency; asymptomatic form, MIM: 210210<li>P->R at 310: in MCC2 deficiency; mild form, MIM: 210210<li>V->M at 339: in MCC2 deficiency; severe form, MIM: 210210<li>I->V at 437: in MCC2 deficiency; mild form, MIM: 210210<li>A->G at 478: in dbSNP:rs35068278, MIM: 210210</ul>							Q8N6Y0	Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	<li>rs35068278</li><li>rs28934884</li><li>rs28934883</li>	2
Q9HCC9	57732	<ul><li>S->N at 603: in dbSNP:rs17768776<li>P->S at 672: in dbSNP:rs661301</ul>									<li>rs17768776</li><li>rs661301</li>	2
Q9HCD5	57727	<ul><li>E->G at 326: in dbSNP:rs11549557</ul>									rs11549557	2
Q9HCE0	57724	<ul><li>E->D at 844: in dbSNP:rs3744999<li>V->A at 1058: in dbSNP:rs3744998<li>I->V at 1131: in dbSNP:rs3744997<li>A->T at 1511: in a breast cancer sample; somatic mutation<li>A->V at 1511: in dbSNP:rs1893523<li>S->N at 1864: in dbSNP:rs34064739<li>C->Y at 1865: in a breast cancer sample; somatic mutation<li>R->Q at 1985: in dbSNP:rs34674177<li>R->W at 2056: in a breast cancer sample; somatic mutation</ul>									<li>rs34064739</li><li>rs34674177</li><li>rs3744999</li><li>rs3744998</li><li>rs3744997</li><li>rs1893523</li>	2
Q9HCE3	55205	<ul><li>E->D at 761: in dbSNP:rs3737506<li>S->L at 822: in a breast cancer sample; somatic mutation</ul>									rs3737506	2
Q9HCE6	55160	<ul><li>D->N at 69: in dbSNP:rs35497285<li>A->V at 96: in a colorectal cancer sample; somatic mutation<li>R->W at 991: in dbSNP:rs6695710<li>V->I at 1219: in dbSNP:rs2270976</ul>									<li>rs6695710</li><li>rs35497285</li><li>rs2270976</li>	2
Q9HCE7	57154	<ul><li>S->Y at 466: in dbSNP:rs13246077</ul>									rs13246077	2
Q9HCF6		<ul><li>Q->R at 1695: in dbSNP:rs6560142</ul>									rs6560142	2
Q9HCH3	57699	<ul><li>N->S at 33: in dbSNP:rs3734334<li>R->H at 582: in dbSNP:rs3830138</ul>									<li>rs3830138</li><li>rs3734334</li>	2
Q9HCI5	57692	<ul><li>Y->F at 640: in a breast cancer sample; somatic mutation<li>T->N at 664: in a breast cancer sample; somatic mutation</ul>										2
Q9HCI6	57691	<ul><li>F->L at 75: in dbSNP:rs36113897<li>V->M at 81: in dbSNP:rs6926980</ul>									<li>rs6926980</li><li>rs36113897</li>	2
Q9HCJ0	57690	<ul><li>P->R at 820: in dbSNP:rs34293811</ul>									rs34293811	2
Q9HCJ1	56172	<ul><li>P->L at 5: in CCAL2, MIM: 118600<li>P->T at 5: in CCAL2, MIM: 118600<li>M->T at 48: in CCAL2, MIM: 118600<li>W->R at 292: in CMDJ, MIM: 123000<li>C->R at 331: in CMDJ, MIM: 123000<li>Missing  at 375: in CMDJ, MIM: 123000<li>Missing  at 376: in CMDJ, MIM: 123000<li>Missing  at 377: in CMDJ, MIM: 123000<li>P->PA at 380: in CMDJ, MIM: 123000<li>G->R at 389: in CMDJ: in dbSNP rsrs28939080, MIM: 123000<li>Missing  at 490: in CCAL2; sporadic, MIM: 123000</ul>								<li>Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]</li><li>Chondrocalcinosis 2 (CCAL2) [MIM:118600]</li>	rs28939080	2
Q9HCK0	57684	<ul><li>H->R at 236: in dbSNP:rs7856488</ul>									rs7856488	2
Q9HCK1	57683	<ul><li>R->K at 160: in dbSNP:rs10932150</ul>									rs10932150	2
Q9HCK4	6092	<ul><li>I->T at 945: in VUR2, MIM: 610878<li>A->T at 1236: in VUR2, MIM: 610878</ul>								Vesicoureteral reflux type 2 (VUR2) [MIM:610878]		2
Q9HCL2	57678	<ul><li>S->Y at 4: in dbSNP:rs11549703<li>I->V at 43: in dbSNP:rs2792751<li>E->G at 131: in dbSNP:rs10787428<li>I->T at 386: in dbSNP:rs35019520</ul>									<li>rs10787428</li><li>rs11549703</li><li>rs35019520</li><li>rs2792751</li>	2
Q9HCM1	55196	<ul><li>I->V at 59: in dbSNP:rs7298803<li>H->Q at 106: in dbSNP:rs2388981<li>I->V at 202: in dbSNP:rs12320740<li>P->L at 250: in dbSNP:rs2166807<li>R->Q at 309: in dbSNP:rs16919122<li>S->N at 346: in dbSNP:rs3207618<li>S->G at 352: in dbSNP:rs10771894<li>S->T at 433: in dbSNP:rs3759302<li>P->S at 518: in dbSNP:rs3759301<li>F->S at 954: in dbSNP:rs3809228<li>T->K at 1010: in dbSNP:rs16919127<li>S->C at 1208: in dbSNP:rs3759299<li>V->I at 1226: in dbSNP:rs1057994<li>T->A at 1338: in dbSNP:rs3759296</ul>									<li>rs2388981</li><li>rs16919122</li><li>rs3759301</li><li>rs3207618</li><li>rs7298803</li><li>rs12320740</li><li>rs3759302</li><li>rs3809228</li><li>rs1057994</li><li>rs16919127</li><li>rs3759299</li><li>rs2166807</li><li>rs10771894</li><li>rs3759296</li>	2
Q9HCM3	57670	<ul><li>A->P at 372: in dbSNP:rs2718131<li>V->G at 775: in dbSNP:rs2354336</ul>									<li>rs2354336</li><li>rs2718131</li>	2
Q9HCM4	57669	<ul><li>H->Y at 334: in dbSNP:rs28930677<li>A->T at 462: in dbSNP:rs1034489</ul>									<li>rs1034489</li><li>rs28930677</li>	2
Q9HCM7	57666	<ul><li>L->P at 294: in dbSNP:rs3751315</ul>									rs3751315	2
Q9HCN3	58986	<ul><li>A->T at 136: in dbSNP:rs11248931<li>V->I at 310: in dbSNP:rs2071915</ul>									<li>rs2071915</li><li>rs11248931</li>	2
Q9HCP0	53944	<ul><li>R->K at 206: in dbSNP rsrs55799101<li>V->I at 329: in dbSNP rsrs55699712</ul>									<li>rs55699712</li><li>rs55799101</li>	2
Q9HCP6	57467	<ul><li>M->V at 403: in dbSNP:rs11079</ul>									rs11079	2
Q9HCQ7	64111	<ul><li>M->I at 32: in dbSNP:rs886354<li>D->G at 42: in dbSNP:rs877834<li>V->M at 121: in dbSNP:rs3213641</ul>									<li>rs3213641</li><li>rs877834</li><li>rs886354</li>	2
Q9HCR9	50940	<ul><li>R->H at 804<li>R->G at 867: in dbSNP rsrs61306957</ul>									rs61306957	2
Q9HCS2	66002	<ul><li>P->L at 13: in dbSNP:rs16995376<li>M->T at 16: in dbSNP:rs16995378<li>D->N at 76: in dbSNP:rs609636<li>V->I at 90: in dbSNP:rs609290<li>R->C at 188: in dbSNP:rs2285888<li>G->S at 522: in dbSNP:rs593818</ul>									<li>rs2285888</li><li>rs609636</li><li>rs609290</li><li>rs593818</li><li>rs16995376</li><li>rs16995378</li>	2
Q9HCS4	83439	<ul><li>T->N at 147: in a breast cancer sample; somatic mutation<li>G->R at 533: in dbSNP:rs11547160</ul>									rs11547160	2
Q9HCS7	56949	<ul><li>V->I at 126: in dbSNP rsrs4134822<li>R->Q at 454: in dbSNP rsrs4134850<li>A->T at 702: in dbSNP:rs4134865</ul>									<li>rs4134822</li><li>rs4134850</li><li>rs4134865</li>	2
Q9HCU0	57124	<ul><li>L->F at 6: in a colorectal cancer sample; somatic mutation<li>H->R at 457: in dbSNP:rs3741367</ul>									rs3741367	2
Q9HCU4	1952	<ul><li>R->Q at 1066: in dbSNP:rs12083590<li>Y->H at 1639: in dbSNP:rs653635<li>G->R at 1992: in dbSNP:rs12567377<li>T->A at 2387: in dbSNP:rs17035649</ul>									<li>rs12567377</li><li>rs12083590</li><li>rs17035649</li><li>rs653635</li>	2
Q9HCU8	57804	<ul><li>R->P at 39: in dbSNP rsrs28364240</ul>									rs28364240	2
Q9HCX3		<ul><li>L->P at 121: in dbSNP:rs862708<li>E->K at 367: in dbSNP:rs862709</ul>									<li>rs862709</li><li>rs862708</li>	2
Q9HCZ1	55713	<ul><li>N->S at 547: in dbSNP:rs3764690</ul>									rs3764690	2
Q9HD15	10011	<ul><li>Q->E at 32: in dbSNP:rs35610885</ul>									rs35610885	2
Q9HD23	57380	<ul><li>P->S at 35: in dbSNP:rs2295651</ul>									rs2295651	2
Q9HD33	57129	<ul><li>C->G at 10: in dbSNP:rs2339844<li>R->H at 213: in dbSNP:rs10513762</ul>									<li>rs10513762</li><li>rs2339844</li>	2
Q9HD34	57128	<ul><li>S->A at 11: in dbSNP:rs2224391</ul>									rs2224391	2
Q9HD36	10017	<ul><li>L->R at 11: in dbSNP:rs2231292</ul>									rs2231292	2
Q9HD43	5794	<ul><li>H->Y at 348: in dbSNP:rs2288515<li>L->F at 543: in dbSNP:rs16986309<li>K->N at 781: in dbSNP:rs2288523<li>E->K at 823: in dbSNP:rs890870<li>I->V at 1076: in dbSNP:rs2288419</ul>									<li>rs890870</li><li>rs16986309</li><li>rs2288515</li><li>rs2288523</li><li>rs2288419</li>	2
Q9HD67	4651	<ul><li>V->I at 32: in dbSNP:rs17707947<li>E->D at 273: in dbSNP:rs6870170<li>R->W at 324: in dbSNP:rs11750538<li>R->Q at 700: in dbSNP:rs26740<li>S->T at 1663: in dbSNP:rs25901</ul>									<li>rs26740</li><li>rs6870170</li><li>rs25901</li><li>rs11750538</li><li>rs17707947</li>	2
Q9HD90		<ul><li>K->T at 68</ul>										2
Q9HDC5	56704	<ul><li>T->M at 507: in dbSNP:rs16938829<li>D->H at 624: in dbSNP:rs16938828</ul>									<li>rs16938828</li><li>rs16938829</li>	2
Q9HDC9	57136	<ul><li>I->V at 65: in dbSNP:rs17298715<li>R->Q at 282: in dbSNP:rs35097515<li>R->W at 374: in dbSNP:rs28364786</ul>									<li>rs35097515</li><li>rs28364786</li><li>rs17298715</li>	2
Q9N2K0		<ul><li>V->L at 81: in allele HERV-H19<li>F->L at 150: in allele HERV-H19</ul>										2
Q9NNW7	10587	<ul><li>R->L at 14: in dbSNP:rs45593642<li>A->S at 66: in dbSNP:rs5748469<li>S->R at 299: in dbSNP:rs5992495<li>I->T at 370: in dbSNP:rs1139793</ul>									<li>rs1139793</li><li>rs5992495</li><li>rs5748469</li><li>rs45593642</li>	2
Q9NNX1	7286	<ul><li>Q->R at 18: in dbSNP:rs3828054<li>K->R at 296: in dbSNP:rs16833395</ul>									<li>rs3828054</li><li>rs16833395</li>	2
Q9NNX6	30835	<ul><li>E->D at 168: in dbSNP:rs11465377<li>E->D at 214: in dbSNP:rs11465377<li>L->V at 242: in dbSNP:rs11465380<li>A->S at 382: in dbSNP:rs11465393</ul>									<li>rs11465393</li><li>rs11465377</li><li>rs11465380</li>	2
Q9NNZ6	58531	<ul><li>Q->R at 100: in dbSNP:rs429744</ul>									rs429744	2
Q9NP31	9047	<ul><li>N->S at 52: in dbSNP:rs926103</ul>									rs926103	2
Q9NP50	58516	<ul><li>R->H at 117: in dbSNP:rs2304459</ul>									rs2304459	2
Q9NP58	10058	<ul><li>R->G at 69: in a breast cancer sample; somatic mutation<li>L->V at 293: in dbSNP:rs13018440<li>R->Q at 648: in dbSNP:rs13402964</ul>									<li>rs13018440</li><li>rs13402964</li>	2
Q9NP59	30061	<ul><li>Y->N at 64: in HFE4, MIM: 606069<li>A->D at 77: in HFE4: in dbSNP rsrs28939076, MIM: 606069<li>G->S at 80: in iron overload, MIM: 606069<li>G->V at 80: in HFE4, MIM: 606069<li>N->D at 144: in HFE4, MIM: 606069<li>N->H at 144: in HFE4, MIM: 606069<li>N->T at 144: in HFE4, MIM: 606069<li>D->G at 157: in HFE4, MIM: 606069<li>Missing  at 162: in HFE4, MIM: 606069<li>N->I at 174: in iron overload, MIM: 606069<li>D->V at 181: in HFE4, MIM: 606069<li>Q->H at 182: in HFE4, MIM: 606069<li>Q->H at 248: common polymorphism associated with mild anemia and a tendancy to iron loading; dbSNP:rs11568350, MIM: 606069<li>G->D at 267: in HFE4, MIM: 606069<li>D->V at 270: in HFE4, MIM: 606069<li>G->V at 323: in HFE4, MIM: 606069<li>C->Y at 326: in iron overload, MIM: 606069<li>M->V at 432: in dbSNP:rs11568355, MIM: 606069<li>P->L at 443: in dbSNP:rs45606432, MIM: 606069<li>G->D at 490: in iron overload, MIM: 606069<li>R->G at 561: in dbSNP:rs11568346, MIM: 606069</ul>								Hemochromatosis type 4 (HFE4) [MIM:606069]	<li>rs28939076</li><li>rs45606432</li><li>rs11568350</li><li>rs11568346</li><li>rs11568355</li>	2
Q9NP60	26280	<ul><li>F->L at 606: in a breast cancer sample; somatic mutation</ul>										2
Q9NP61	26286	<ul><li>E->G at 290: in a breast cancer sample; somatic mutation<li>S->R at 355: in dbSNP:rs1018448</ul>									rs1018448	2
Q9NP70	258	<ul><li>M->T at 11: in ameloblastoma<li>A->V at 255: in dbSNP:rs7439186<li>L->P at 354<li>RT->GA at 396-397: in ameloblastoma<li>H->R at 439: in ameloblastoma</ul>									rs7439186	2
Q9NP71	51085	<ul><li>Q->H at 241: in dbSNP:rs3812316<li>D->E at 244: in dbSNP:rs34922362</ul>									<li>rs34922362</li><li>rs3812316</li>	2
Q9NP72	22931	<ul><li>N->S at 113: in dbSNP:rs12268932<li>A->T at 198: in dbSNP:rs11015859</ul>									<li>rs12268932</li><li>rs11015859</li>	2
Q9NP74	54873	<ul><li>H->Q at 73: in dbSNP:rs11802902<li>N->S at 229: in dbSNP:rs35258980<li>E->D at 459: in dbSNP:rs35317701</ul>									<li>rs35317701</li><li>rs35258980</li><li>rs11802902</li>	2
Q9NP78	23457	<ul><li>V->M at 121: in dbSNP:rs3803002</ul>									rs3803002	2
Q9NP79	51534	<ul><li>I->M at 239: in dbSNP:rs2232307</ul>									rs2232307	2
Q9NP81	54938	<ul><li>T->A at 35: in dbSNP:rs34264048<li>S->L at 83: in dbSNP:rs34050897</ul>									<li>rs34050897</li><li>rs34264048</li>	2
Q9NP85	7827	<ul><li>P->L at 20: in SRN, MIM: 600995<li>G->C at 92: in SRN, MIM: 600995<li>R->Q at 138: in SRN, MIM: 600995<li>D->G at 160: in SRN, MIM: 600995<li>V->M at 180: in SRN, MIM: 600995<li>R->W at 291: in SRN, MIM: 600995</ul>							<li>Q29539</li><li>Q29538</li><li>P00669</li><li>Q29535</li>	Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]		2
Q9NP86	56344	<ul><li>T->R at 65: in dbSNP:rs34862923<li>L->P at 80: in dbSNP:rs8105198<li>V->A at 128: in dbSNP:rs3745746<li>E->K at 140: in dbSNP:rs34681062<li>I->S at 147: in dbSNP:rs10425606</ul>									<li>rs34681062</li><li>rs34862923</li><li>rs3745746</li><li>rs10425606</li><li>rs8105198</li>	2
Q9NP87	27434	<ul><li>E->D at 107: in dbSNP rsrs28382635<li>G->A at 220: in dbSNP:rs28382644<li>V->F at 246: in dbSNP:rs28382653<li>L->F at 484: in dbSNP rsrs28382661</ul>									<li>rs28382661</li><li>rs28382653</li><li>rs28382644</li><li>rs28382635</li>	2
Q9NP91	54716	<ul><li>A->G at 9: in dbSNP:rs2271615<li>T->M at 199: in dbSNP:rs17279437</ul>									<li>rs2271615</li><li>rs17279437</li>	2
Q9NP92	10884	<ul><li>C->F at 33: in dbSNP:rs3747479<li>C->S at 33: in dbSNP:rs3747479<li>A->V at 102: in dbSNP:rs35601455</ul>									<li>rs35601455</li><li>rs3747479</li>	2
Q9NP94	29986	<ul><li>M->V at 80: in dbSNP:rs2234634<li>G->E at 129: in dbSNP:rs6413532<li>H->Y at 154: in dbSNP:rs2234637</ul>									<li>rs2234637</li><li>rs2234634</li><li>rs6413532</li>	2
Q9NP95	26281	<ul><li>G->R at 116: in dbSNP:rs3793405<li>P->A at 175: in dbSNP:rs10089600<li>D->N at 206: in dbSNP:rs17550360</ul>									<li>rs3793405</li><li>rs10089600</li><li>rs17550360</li>	2
Q9NP97	83658	<ul><li>S->R at 13: in dbSNP:rs1063616<li>I->F at 71: in dbSNP:rs10036</ul>									<li>rs10036</li><li>rs1063616</li>	2
Q9NP99	54210	<ul><li>T->S at 25: in dbSNP:rs2234237<li>R->S at 97: in a breast cancer sample; somatic mutation<li>K->T at 135: in dbSNP:rs34727391<li>F->L at 214: in dbSNP:rs2234245</ul>									<li>rs2234237</li><li>rs2234245</li><li>rs34727391</li>	2
Q9NPA1	27094	<ul><li>D->G at 44: in dbSNP:rs1170672<li>A->T at 53: in dbSNP:rs7645550<li>L->V at 75: in dbSNP:rs2276802<li>N->S at 165<li>M->T at 230</ul>									<li>rs1170672</li><li>rs7645550</li><li>rs2276802</li>	2
Q9NPA5	55734	<ul><li>Q->P at 68: in dbSNP:rs7353222<li>P->L at 139: in dbSNP:rs6021773<li>F->Y at 425: in dbSNP:rs16996517<li>S->N at 451: in dbSNP:rs3746414</ul>									<li>rs7353222</li><li>rs6021773</li><li>rs3746414</li><li>rs16996517</li>	2
Q9NPB6	50855	<ul><li>V->I at 286: in dbSNP:rs35356834</ul>									rs35356834	2
Q9NPB8	56261	<ul><li>T->I at 273: in dbSNP:rs2273373</ul>									rs2273373	2
Q9NPC4	53947	<ul><li>M->V at 37: in dbSNP:rs11541159<li>Missing  at 80: in p individuals<li>Q->R at 163: in dbSNP:rs28915383<li>M->K at 183: in p individuals; complete loss of activity<li>G->D at 187: in p individuals; partial loss of activity; dbSNP:rs28940572<li>P->L at 251: in p individuals; complete loss of activity; dbSNP:rs28940571</ul>									<li>rs11541159</li><li>rs28915383</li><li>rs28940571</li><li>rs28940572</li>	2
Q9NPD5	28234	<ul><li>S->A at 112: in dbSNP:rs4149117<li>M->I at 233: in dbSNP:rs7311358<li>I->M at 292: in a colorectal cancer sample; somatic mutation<li>V->A at 560: in dbSNP:rs12299012<li>M->L at 647: in a colorectal cancer sample; somatic mutation</ul>									<li>rs7311358</li><li>rs12299012</li><li>rs4149117</li>	2
Q9NPE2	51335	<ul><li>L->F at 102: in dbSNP:rs11073922<li>D->G at 195: in dbSNP:rs16944113</ul>									<li>rs11073922</li><li>rs16944113</li>	2
Q9NPE3	55505	<ul><li>R->W at 34: in ARDKC, MIM: 224230</ul>								Dyskeratosis congenita autosomal recessive (ARDKC) [MIM:224230]		2
Q9NPF0	51293	<ul><li>Q->R at 8: in dbSNP:rs2232775<li>G->R at 220: in dbSNP:rs2336573</ul>									<li>rs2336573</li><li>rs2232775</li>	2
Q9NPG3	29855	<ul><li>Y->C at 435: in dbSNP:rs35103368</ul>									rs35103368	2
Q9NPG4	51294	<ul><li>H->N at 385: in dbSNP:rs164075<li>S->N at 640: in dbSNP:rs164515</ul>									<li>rs164515</li><li>rs164075</li>	2
Q9NPG8	55146	<ul><li>V->M at 53: in dbSNP:rs11559146<li>P->S at 104: in a breast cancer sample; somatic mutation</ul>									rs11559146	2
Q9NPH0	51205	<ul><li>M->V at 316: in dbSNP:rs6593795</ul>									rs6593795	2
Q9NPH3	3556	<ul><li>V->M at 473: in dbSNP:rs34661910</ul>									rs34661910	2
Q9NPH5	50507	<ul><li>M->I at 315: in dbSNP:rs317139</ul>									rs317139	2
Q9NPH6	29989	<ul><li>V->I at 167: in dbSNP:rs11244035</ul>									rs11244035	2
Q9NPI5	27231	<ul><li>E->K at 178: in dbSNP:rs16992131</ul>									rs16992131	2
Q9NPI8	2188	<ul><li>V->I at 295: in dbSNP:rs7103293<li>P->L at 320: in dbSNP rsrs45451294</ul>									<li>rs7103293</li><li>rs45451294</li>	2
Q9NPI9	3773	<ul><li>I->V at 11: in dbSNP:rs9302912</ul>									rs9302912	2
Q9NPJ1	8195	<ul><li>I->M at 32: in BBS6, MIM: 209900<li>Y->C at 37: in MKKS; in the heterozygous state; sporadic and in BBS6; in the homozygous state, MIM: 236700<li>G->V at 49, MIM: 236700<li>G->D at 52: in BBS6; dbSNP:rs28937875, MIM: 209900<li>T->A at 57: in BBS6, MIM: 209900<li>H->Y at 84: in MKKS; may interfere with ATP hydrolysis, MIM: 236700<li>R->L at 155: in BBS6, MIM: 209900<li>A->P at 181: in BBS6, MIM: 209900<li>S->P at 236: in BBS6, MIM: 209900<li>T->A at 237: in BBS6, MIM: 209900<li>T->P at 237: in BBS6, MIM: 209900<li>A->S at 242: in MKKS and BBS6, MIM: 236700<li>L->P at 277: in BBS6, MIM: 209900<li>D->A at 286: in BBS6, MIM: 209900<li>T->P at 325: has a modifier effect on BBS; causes a mislocalization of the protein compared with the wild-type, MIM: 209900<li>I->V at 339: in BBS6, MIM: 209900<li>G->E at 345: in BBS6, MIM: 209900<li>S->P at 460: in BBS6, MIM: 209900<li>D->N at 492: in BBS6, MIM: 209900<li>C->S at 499: in BBS6, MIM: 209900<li>S->A at 511: in BBS6, MIM: 209900<li>R->C at 517: in dbSNP:rs1547, MIM: 209900<li>R->H at 518: in BBS6, MIM: 209900<li>G->V at 532: in dbSNP:rs1545, MIM: 209900</ul>	ATP hydrolysis	GO:0006200					<li>Q9NPJ1</li><li>Q5R4T7</li>	<li>Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]</li><li>McKusick-Kaufman syndrome (MKKS) [MIM:236700]</li>	<li>rs28937875</li><li>rs1545</li><li>rs1547</li>	2
Q9NPL8	51300	<ul><li>N->D at 76: in dbSNP:rs11539377</ul>									rs11539377	2
Q9NPR2		<ul><li>S->A at 792</ul>										2
Q9NPY3	22918	<ul><li>A->V at 220: in a colorectal cancer sample; somatic mutation<li>V->A at 318<li>P->S at 541: in dbSNP:rs3746731</ul>									rs3746731	2
Q9NQ25	57823	<ul><li>H->Y at 175: in dbSNP:rs35325048<li>T->M at 302: in dbSNP:rs2295617</ul>									<li>rs35325048</li><li>rs2295617</li>	2
Q9NQ31	56672	<ul><li>R->K at 23: in dbSNP:rs1133833<li>I->T at 132: in dbSNP:rs35131475</ul>									<li>rs1133833</li><li>rs35131475</li>	2
Q9NQ36	57758	<ul><li>T->M at 591: in dbSNP:rs3751055<li>Q->H at 712: in dbSNP:rs7395988<li>V->G at 752: in dbSNP:rs12419343<li>T->S at 791: in dbSNP:rs3751057<li>P->R at 843: in dbSNP:rs3751059</ul>									<li>rs7395988</li><li>rs3751055</li><li>rs12419343</li><li>rs3751057</li><li>rs3751059</li>	2
Q9NQ38	11005	<ul><li>Q->R at 267: in dbSNP:rs6892205<li>S->N at 368: in dbSNP:rs2303063<li>D->N at 386: in dbSNP:rs2303064<li>V->M at 395: in dbSNP:rs17775319<li>K->E at 420: in dbSNP:rs2303067<li>R->H at 441: in dbSNP:rs34393923<li>I->M at 588: in dbSNP:rs35877540<li>R->Q at 711: in dbSNP:rs3777134<li>E->D at 825: in dbSNP:rs2303070<li>S->R at 887: in dbSNP:rs28408445<li>K->E at 969: in dbSNP:rs3188691<li>H->R at 972: in dbSNP:rs17705005</ul>									<li>rs2303067</li><li>rs17705005</li><li>rs2303064</li><li>rs28408445</li><li>rs17775319</li><li>rs2303063</li><li>rs3188691</li><li>rs3777134</li><li>rs34393923</li><li>rs2303070</li><li>rs6892205</li><li>rs35877540</li>	2
Q9NQ40	113278	<ul><li>I->M at 74: in dbSNP:rs35655964<li>D->G at 174: in dbSNP:rs6054614<li>P->L at 267: in dbSNP:rs3746804<li>T->M at 278: in dbSNP:rs3746803<li>I->V at 303: in dbSNP:rs3746802</ul>									<li>rs3746802</li><li>rs3746803</li><li>rs35655964</li><li>rs3746804</li><li>rs6054614</li>	2
Q9NQ48	54585	<ul><li>K->E at 152: in dbSNP:rs17855512<li>D->N at 246: in dbSNP:rs1129183<li>Q->R at 251: in dbSNP:rs17852322</ul>									<li>rs1129183</li><li>rs17852322</li><li>rs17855512</li>	2
Q9NQ50	64976	<ul><li>R->H at 129: in dbSNP:rs7575</ul>									rs7575	2
Q9NQ55	56342	<ul><li>G->V at 358: in dbSNP:rs2305793<li>Q->R at 408: in dbSNP:rs11559188</ul>									<li>rs2305793</li><li>rs11559188</li>	2
Q9NQ60	54586	<ul><li>N->D at 101: in dbSNP:rs12337286<li>T->K at 274: in dbSNP:rs41305329</ul>									<li>rs41305329</li><li>rs12337286</li>	2
Q9NQ66	23236	<ul><li>E->K at 854: in dbSNP:rs2076413<li>A->P at 907: in a breast cancer sample; somatic mutation</ul>									rs2076413	2
Q9NQ75	57091	<ul><li>R->K at 491: in dbSNP:rs16979936<li>T->N at 629: in dbSNP:rs6069755<li>P->S at 660: in dbSNP:rs35031530<li>Q->H at 780: in dbSNP:rs7272702</ul>									<li>rs7272702</li><li>rs16979936</li><li>rs35031530</li><li>rs6069755</li>	2
Q9NQ76	56955	<ul><li>V->I at 330: in dbSNP:rs17013285</ul>									rs17013285	2
Q9NQ79	55118	<ul><li>A->T at 253: in dbSNP:rs35853031<li>V->M at 569: in dbSNP:rs2297935</ul>									<li>rs2297935</li><li>rs35853031</li>	2
Q9NQ86	55521	<ul><li>K->R at 428<li>N->S at 456: in dbSNP:rs17137481<li>N->D at 678: in dbSNP:rs2974617</ul>									<li>rs2974617</li><li>rs17137481</li>	2
Q9NQ87	26508	<ul><li>H->R at 47: in dbSNP:rs784625</ul>									rs784625	2
Q9NQ90	57101	<ul><li>V->A at 108: in dbSNP:rs3741903<li>S->A at 501: in dbSNP:rs1860961</ul>									<li>rs3741903</li><li>rs1860961</li>	2
Q9NQ92	55352	<ul><li>S->G at 43: in dbSNP:rs8068049</ul>									rs8068049	2
Q9NQ94	29974	<ul><li>V->M at 555: in dbSNP:rs9073</ul>									rs9073	2
Q9NQA5	56302	<ul><li>A->V at 8: in dbSNP:rs4252372<li>R->H at 154: in dbSNP:rs4236480<li>A->T at 563: in dbSNP:rs4252499<li>L->F at 712: in dbSNP:rs4252509</ul>									<li>rs4252372</li><li>rs4252499</li><li>rs4236480</li><li>rs4252509</li>	2
Q9NQB0	6934	<ul><li>K->N at 346: in dbSNP:rs2757884<li>R->C at 465: in a colorectal cancer sample; somatic mutation</ul>									rs2757884	2
Q9NQC1	23338	<ul><li>R->G at 581: in dbSNP:rs34200923</ul>									rs34200923	2
Q9NQC3	57142	<ul><li>D->V at 357: in dbSNP:rs11677099<li>L->V at 429: in a colorectal cancer sample; somatic mutation<li>E->Q at 899: in dbSNP:rs6757519<li>S->C at 920: in dbSNP:rs6757705</ul>									<li>rs11677099</li><li>rs6757705</li><li>rs6757519</li>	2
Q9NQC7	1540	<ul><li>E->G at 747: in MFT1 and BRSS, MIM: 601606</ul>							<li>Q03218</li><li>P33441</li>	<li>Brooke-Spiegler syndrome (BRSS) [MIM:605041]</li><li>Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606]</li>		2
Q9NQE7	10279	<ul><li>S->I at 104: in dbSNP:rs5030965<li>A->G at 204: in dbSNP:rs35466700</ul>									<li>rs35466700</li><li>rs5030965</li>	2
Q9NQE9	135114	<ul><li>G->A at 36: 2.5-fold increase in affinity for indolepropinoic acyl-adenylate and cytosine; 2-fold decrease in hypoxanthine affinity; nearly no change in affinity for adenine, guanine and uracil; dbSNP:rs2295005</ul>									rs2295005	2
Q9NQG6	54471	<ul><li>G->R at 78: in dbSNP:rs2272830<li>T->M at 89: in dbSNP:rs17001213<li>R->W at 169: in dbSNP:rs2232088<li>D->N at 264: in dbSNP:rs2232091</ul>									<li>rs17001213</li><li>rs2272830</li><li>rs2232091</li><li>rs2232088</li>	2
Q9NQG7	89781	<ul><li>E->G at 229: in dbSNP:rs713998<li>L->V at 443: in dbSNP:rs2014410<li>V->M at 552: in dbSNP:rs5752330<li>H->Y at 606: in dbSNP:rs1894706<li>Q->H at 625: in dbSNP:rs1894704</ul>									<li>rs713998</li><li>rs1894704</li><li>rs1894706</li><li>rs5752330</li><li>rs2014410</li>	2
Q9NQH7	63929	<ul><li>I->L at 450: in dbSNP:rs17002243</ul>									rs17002243	2
Q9NQI0	54514	<ul><li>G->D at 148: in dbSNP:rs2306259<li>I->V at 287: in dbSNP:rs2305123</ul>									<li>rs2305123</li><li>rs2306259</li>	2
Q9NQL9	58524	<ul><li>A->T at 164: in dbSNP:rs10978001<li>N->T at 261: in dbSNP:rs7854621<li>G->V at 356: in dbSNP:rs16927037</ul>									<li>rs16927037</li><li>rs10978001</li><li>rs7854621</li>	2
Q9NQR4	56954	<ul><li>V->A at 231: in dbSNP:rs17851799</ul>									rs17851799	2
Q9NQR9	57818	<ul><li>I->V at 171: in dbSNP:rs2232322<li>Y->S at 207: in dbSNP:rs2232323<li>V->L at 219: in dbSNP:rs492594<li>S->P at 324: in dbSNP:rs2232326<li>P->L at 340: in dbSNP:rs2232327<li>S->C at 342: in dbSNP:rs2232328</ul>									<li>rs2232322</li><li>rs492594</li><li>rs2232323</li><li>rs2232326</li><li>rs2232327</li><li>rs2232328</li>	2
Q9NQS1	57099	<ul><li>Q->R at 228: in dbSNP:rs2241647</ul>									rs2241647	2
Q9NQS3	25945	<ul><li>R->L at 432: in dbSNP:rs15611</ul>									rs15611	2
Q9NQS5	53831	<ul><li>G->D at 37: in dbSNP:rs11170883</ul>									rs11170883	2
Q9NQS7	3619	<ul><li>G->V at 2: in dbSNP:rs1792947<li>R->H at 100: in dbSNP:rs12281503<li>A->V at 137: in dbSNP:rs34441559<li>M->T at 506: in dbSNP:rs2277283<li>E->D at 644: in dbSNP:rs7129085</ul>									<li>rs2277283</li><li>rs1792947</li><li>rs7129085</li><li>rs34441559</li><li>rs12281503</li>	2
Q9NQT4	56915	<ul><li>T->M at 5: in dbSNP:rs10853751<li>C->W at 33: in dbSNP:rs34500671</ul>									<li>rs34500671</li><li>rs10853751</li>	2
Q9NQT5	51010	<ul><li>Y->H at 225: in dbSNP:rs3208406</ul>									rs3208406	2
Q9NQT6	29999	<ul><li>A->S at 24: in dbSNP:rs3779536<li>H->L at 428: in dbSNP:rs34394613</ul>									<li>rs34394613</li><li>rs3779536</li>	2
Q9NQU5	56924	<ul><li>R->H at 3: in a colorectal cancer sample; somatic mutation<li>M->V at 76: in dbSNP:rs2412504<li>R->C at 103: in dbSNP:rs36081263<li>T->I at 151: in dbSNP:rs35593179<li>E->K at 184: in dbSNP rsrs56349744<li>G->E at 205: in dbSNP rsrs55920845<li>P->T at 208: in dbSNP:rs35501648<li>T->M at 210: in dbSNP rsrs34869667<li>H->R at 215: in dbSNP:rs3743135<li>P->L at 337: in dbSNP:rs3743137<li>A->V at 376: in dbSNP rsrs55806501<li>E->K at 475: in dbSNP:rs34445577<li>L->R at 514: in a lung small cell carcinoma sample; somatic mutation</ul>									<li>rs56349744</li><li>rs35593179</li><li>rs3743137</li><li>rs34869667</li><li>rs34445577</li><li>rs3743135</li><li>rs2412504</li><li>rs35501648</li><li>rs55806501</li><li>rs55920845</li><li>rs36081263</li>	2
Q9NQV6	56980	<ul><li>A->T at 22: in dbSNP:rs11221912<li>T->A at 573: in dbSNP:rs2241571</ul>									<li>rs2241571</li><li>rs11221912</li>	2
Q9NQW1	25956	<ul><li>V->A at 89: in dbSNP:rs3763695<li>Y->C at 100: in dbSNP:rs7074707<li>L->F at 129: in dbSNP:rs3793706<li>S->A at 332: in dbSNP:rs2295774<li>P->S at 372: in dbSNP:rs2295772<li>R->Q at 433: in dbSNP:rs2295771<li>R->T at 478: in dbSNP:rs11819496<li>S->R at 527: in dbSNP:rs17113157<li>A->S at 1169: in dbSNP:rs2298075</ul>									<li>rs3763695</li><li>rs2295771</li><li>rs2295772</li><li>rs17113157</li><li>rs2295774</li><li>rs7074707</li><li>rs2298075</li><li>rs3793706</li><li>rs11819496</li>	2
Q9NQW6	54443	<ul><li>S->W at 65: in dbSNP:rs3735400<li>R->K at 185: in dbSNP:rs197367</ul>									<li>rs197367</li><li>rs3735400</li>	2
Q9NQW8	54714	<ul><li>R->H at 25<li>N->S at 27: in dbSNP rsrs35807406<li>G->R at 107: in ACHM3; uncertain pathogenicity, MIM: 262300<li>K->E at 148: in ACHM3, MIM: 262300<li>S->F at 156: in ACHM3, MIM: 262300<li>E->K at 199: in ACHM3; uncertain pathogenicity, MIM: 262300<li>R->Q at 203: in ACHM3; uncertain pathogenicity; dbSNP:rs16916632, MIM: 262300<li>W->C at 234: in dbSNP:rs6471482, MIM: 262300<li>T->P at 298: in dbSNP:rs4961206, MIM: 262300<li>I->V at 307: in dbSNP:rs13265557, MIM: 262300<li>P->L at 309: in ACHM3, MIM: 262300<li>R->Q at 403: in macular degeneration, MIM: 262300<li>S->F at 435: in ACHM3, MIM: 262300<li>M->T at 466: in ACHM3; uncertain pathogenicity; dbSNP:rs35010099, MIM: 262300<li>Y->D at 469: in STGD1; dbSNP:rs35365413, MIM: 248200<li>D->N at 494: in ACHM3; uncertain pathogenicity, MIM: 262300<li>D->Y at 513: in ACHM3; uncertain pathogenicity, MIM: 262300<li>F->N at 525: in ACHM3; requires 2 nucleotide substitutions, MIM: 262300<li>G->C at 558: in ACHM3, MIM: 262300<li>L->F at 595: in ACHM3, MIM: 262300<li>T->P at 672: in ACHM3; uncertain pathogenicity, MIM: 262300<li>Missing  at 720-726: in ACHM3, MIM: 262300<li>P->S at 750: in dbSNP:rs3735971, MIM: 262300<li>E->G at 755: in dbSNP:rs3735972, MIM: 262300</ul>								<li>Achromatopsia type 3 (ACHM3) [MIM:262300]</li><li>Stargardt disease type 1 (STGD1) [MIM:248200]</li>	<li>rs4961206</li><li>rs16916632</li><li>rs35010099</li><li>rs6471482</li><li>rs35807406</li><li>rs3735971</li><li>rs3735972</li><li>rs35365413</li><li>rs13265557</li>	2
Q9NQX3	10243	<ul><li>N->Y at 10: in STHE; sporadic case, MIM: 149400</ul>								Startle disease (STHE) [MIM:149400]		2
Q9NQX4		<ul><li>P->L at 522<li>L->S at 634<li>E->K at 1075: in dbSNP:rs3825801</ul>									rs3825801	2
Q9NQX7	81618	<ul><li>G->S at 53: in dbSNP:rs2289235</ul>									rs2289235	2
Q9NQZ2	57050	<ul><li>T->M at 23: in dbSNP:rs16845385</ul>									rs16845385	2
Q9NQZ5	56910	<ul><li>R->P at 140: in dbSNP:rs2276650</ul>									rs2276650	2
Q9NQZ7	57089	<ul><li>V->A at 276: in dbSNP:rs11190245</ul>									rs11190245	2
Q9NQZ8	58491	<ul><li>R->G at 27: in dbSNP:rs10405299<li>V->I at 105: in dbSNP:rs2072501<li>P->L at 121: in dbSNP:rs35392779</ul>									<li>rs10405299</li><li>rs35392779</li><li>rs2072501</li>	2
Q9NR00	56892	<ul><li>I->V at 10: in dbSNP:rs6474226</ul>									rs6474226	2
Q9NR12	9260	<ul><li>A->T at 326: in dbSNP:rs2306764<li>K->N at 450: in a breast cancer sample; somatic mutation</ul>									rs2306764	2
Q9NR20	8798	<ul><li>A->T at 61: in dbSNP:rs12306130<li>A->S at 70<li>V->I at 95<li>N->S at 189: in dbSNP:rs3741927<li>D->V at 454: in dbSNP:rs1801016</ul>									<li>rs12306130</li><li>rs3741927</li><li>rs1801016</li>	2
Q9NR23	9573	<ul><li>G->R at 213: in dbSNP:rs12819884<li>V->L at 328: in dbSNP:rs2302516</ul>									<li>rs12819884</li><li>rs2302516</li>	2
Q9NR30	9188	<ul><li>T->I at 27: in dbSNP:rs17556220</ul>									rs17556220	2
Q9NR33	56655	<ul><li>G->V at 17: in dbSNP:rs12366</ul>									rs12366	2
Q9NR45	54187	<ul><li>E->D at 68: in dbSNP:rs1058446</ul>									rs1058446	2
Q9NR46	56904	<ul><li>A->V at 305: in dbSNP:rs17455482<li>P->L at 319: in dbSNP:rs17455475</ul>									<li>rs17455475</li><li>rs17455482</li>	2
Q9NR48	55870	<ul><li>T->A at 1771: in dbSNP:rs4971053</ul>									rs4971053	2
Q9NR50	8891	<ul><li>A->V at 87: in VWM, MIM: 603896<li>R->Q at 225: in VWM, MIM: 603896<li>D->E at 288: in dbSNP:rs3738247, MIM: 603896</ul>								Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]	rs3738247	2
Q9NR55	55509	<ul><li>V->I at 11: in dbSNP:rs2202683</ul>									rs2202683	2
Q9NR63	56603	<ul><li>V->M at 181<li>A->V at 185<li>R->H at 191<li>D->N at 227<li>L->S at 264: in dbSNP:rs2241057<li>E->K at 380: in dbSNP:rs2286965<li>A->G at 420: in dbSNP:rs7568553<li>R->C at 473<li>V->I at 479</ul>									<li>rs7568553</li><li>rs2286965</li><li>rs2241057</li>	2
Q9NR71	56624	<ul><li>T->A at 51: in dbSNP:rs7067625<li>A->S at 346: in dbSNP:rs993869</ul>									<li>rs993869</li><li>rs7067625</li>	2
Q9NR80	50649	<ul><li>K->R at 100: in a breast cancer sample; somatic mutation<li>T->R at 441: in a breast cancer sample; somatic mutation</ul>										2
Q9NR81	50650	<ul><li>K->R at 13: in dbSNP:rs3732507<li>L->V at 335: in dbSNP:rs3772219</ul>									<li>rs3772219</li><li>rs3732507</li>	2
Q9NR82	56479	<ul><li>W->G at 191: in a colorectal cancer sample; somatic mutation<li>R->C at 244: in a colorectal cancer sample; somatic mutation</ul>										2
Q9NR83	56731	<ul><li>E->D at 233: in dbSNP:rs8957</ul>									rs8957	2
Q9NR96	54106	<ul><li>R->C at 5: in dbSNP:rs5743842<li>H->Q at 79: in dbSNP:rs5743843<li>R->Q at 863: in dbSNP:rs5743845<li>A->T at 882: in dbSNP:rs5743846<li>R->H at 901: in a colorectal cancer sample; somatic mutation<li>T->M at 933: in a colorectal cancer sample; somatic mutation</ul>									<li>rs5743846</li><li>rs5743843</li><li>rs5743842</li><li>rs5743845</li>	2
Q9NR97	51311	<ul><li>M->V at 10: in dbSNP:rs5744077<li>R->Q at 715: in dbSNP:rs5744082</ul>									<li>rs5744077</li><li>rs5744082</li>	2
Q9NR99	25878	<ul><li>L->V at 2531: in dbSNP:rs1726208</ul>									rs1726208	2
Q9NRA2	26503	<ul><li>R->C at 39: in SD; frequent mutation in Finland, MIM: 604369<li>K->E at 136: in SD, MIM: 604369<li>H->R at 183: in ISSD, MIM: 269920<li>Missing  at 268-272: in ISSD, MIM: 269920<li>V->I at 296: in dbSNP:rs16883930, MIM: 269920<li>P->R at 334: in ISSD, MIM: 269920<li>G->V at 371: in ISSD, MIM: 269920</ul>								<li>Salla disease (SD) [MIM:604369]</li><li>Infantile sialic acid storage disorder (ISSD) [MIM:269920]</li>	rs16883930	2
Q9NRB3	55501	<ul><li>P->H at 52: in dbSNP:rs3735099<li>T->S at 61: in dbSNP:rs3735100<li>P->L at 94: in dbSNP:rs12536223<li>R->S at 109: in dbSNP:rs17132395<li>A->P at 145: in dbSNP:rs17132399</ul>									<li>rs17132395</li><li>rs12536223</li><li>rs17132399</li><li>rs3735099</li><li>rs3735100</li>	2
Q9NRC1	7982	<ul><li>A->T at 186<li>I->V at 361</ul>										2
Q9NRC6	51332	<ul><li>R->H at 1345: in dbSNP:rs2290559<li>R->T at 1367: in dbSNP:rs2290558<li>Q->R at 2862: in dbSNP:rs1456235<li>A->G at 3275: in dbSNP:rs1197660</ul>									<li>rs1197660</li><li>rs1456235</li><li>rs2290559</li><li>rs2290558</li>	2
Q9NRC9	56914	<ul><li>L->P at 31: in dbSNP:rs6135876</ul>									rs6135876	2
Q9NRD0	26269	<ul><li>L->I at 269: in a breast cancer sample; somatic mutation</ul>										2
Q9NRD1	26270	<ul><li>R->Q at 60: in dbSNP:rs3125818<li>P->T at 201: in dbSNP:rs2294639</ul>									<li>rs3125818</li><li>rs2294639</li>	2
Q9NRD8	50506	<ul><li>Q->H at 36: in CHDH6, MIM: 607200<li>P->L at 138: in dbSNP:rs2001616, MIM: 607200<li>R->W at 376: in CHDH6, MIM: 607200<li>L->S at 1067: in dbSNP:rs269868, MIM: 607200</ul>								Congenital hypothyroidism due to dyshormonogenesis type 6 (CHDH6) [MIM:607200]	<li>rs269868</li><li>rs2001616</li>	2
Q9NRD9	53905	<ul><li>I->T at 962: in dbSNP:rs16939743<li>C->R at 1026: in dbSNP:rs16939752<li>L->F at 1178: in dbSNP:rs2458236</ul>									<li>rs16939752</li><li>rs16939743</li><li>rs2458236</li>	2
Q9NRE1	56547	<ul><li>K->E at 43: in dbSNP:rs2499953<li>I->M at 260: in dbSNP:rs16908114</ul>									<li>rs2499953</li><li>rs16908114</li>	2
Q9NRE2	128553	<ul><li>R->S at 113: in dbSNP:rs739869<li>A->T at 681: in dbSNP:rs6097319</ul>									<li>rs739869</li><li>rs6097319</li>	2
Q9NRF2	25970	<ul><li>A->T at 484: in dbSNP:rs7498665<li>V->A at 541: in dbSNP:rs17850682</ul>									<li>rs17850682</li><li>rs7498665</li>	2
Q9NRF9	54107	<ul><li>T->A at 83: in dbSNP rsrs36023979<li>E->D at 135: in dbSNP rsrs35933626</ul>									<li>rs36023979</li><li>rs35933626</li>	2
Q9NRG0	54108	<ul><li>C->Y at 55: in dbSNP:rs2231522<li>H->R at 126: in dbSNP:rs2231524</ul>									<li>rs2231522</li><li>rs2231524</li>	2
Q9NRG4	56950	<ul><li>G->E at 165: in dbSNP:rs1134647<li>I->M at 430: in dbSNP:rs11120301</ul>									<li>rs11120301</li><li>rs1134647</li>	2
Q9NRG9	8086	<ul><li>Q->K at 15: in AAAS, MIM: 231550<li>K->M at 108: in dbSNP:rs13330, MIM: 231550<li>H->R at 160: in AAAS, MIM: 231550<li>S->P at 263: in AAAS, MIM: 231550</ul>							Q9NRG9	Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]	rs13330	2
Q9NRH1	57002	<ul><li>K->E at 68: in dbSNP:rs6947660</ul>									rs6947660	2
Q9NRH2	54861	<ul><li>L->S at 260: in dbSNP rsrs35624204<li>P->S at 391: in dbSNP rsrs56104180<li>G->S at 611: in an ovarian mucinous carcinoma sample; somatic mutation<li>P->L at 748: in an ovarian serous carcinoma sample; somatic mutation<li>I->M at 765: in a breast pleomorphic lobular carcinoma sample; somatic mutation</ul>									<li>rs56104180</li><li>rs35624204</li>	2
Q9NRH3	27175	<ul><li>M->V at 413: in dbSNP:rs1046097</ul>									rs1046097	2
Q9NRI5	27185	<ul><li>G->V at 5: in dbSNP:rs3738400<li>R->Q at 264: in dbSNP:rs3738401<li>L->F at 330: in dbSNP:rs34622148<li>L->F at 607: associated with susceptibility to schizoaffective disorder; dbSNP:rs6675281<li>S->C at 704: in dbSNP:rs821616</ul>									<li>rs3738400</li><li>rs3738401</li><li>rs6675281</li><li>rs821616</li><li>rs34622148</li>	2
Q9NRJ1		<ul><li>T->M at 19: in dbSNP:rs2233233<li>K->R at 49: in dbSNP:rs2233235<li>T->I at 57: in dbSNP:rs2233236</ul>									<li>rs2233233</li><li>rs2233235</li><li>rs2233236</li>	2
Q9NRJ4	56995	<ul><li>G->S at 214: in dbSNP:rs35262826<li>S->N at 522: in dbSNP:rs12206717<li>D->N at 979: in dbSNP:rs34622886<li>V->I at 1084: in dbSNP:rs34559793<li>P->T at 1281: in dbSNP:rs3749852</ul>									<li>rs12206717</li><li>rs34622886</li><li>rs3749852</li><li>rs35262826</li><li>rs34559793</li>	2
Q9NRJ7	57717	<ul><li>R->Q at 525: in dbSNP:rs17844651<li>G->S at 532: in dbSNP:rs2697532</ul>									<li>rs2697532</li><li>rs17844651</li>	2
Q9NRK6	23456	<ul><li>A->S at 150: in dbSNP:rs4148756<li>R->G at 242: in dbSNP:rs17584642<li>R->T at 471: in a breast cancer sample; somatic mutation<li>D->N at 545: in dbSNP:rs35698797</ul>									<li>rs35698797</li><li>rs4148756</li><li>rs17584642</li>	2
Q9NRL2	11177	<ul><li>D->E at 344: in dbSNP:rs1133285<li>N->K at 1366: in dbSNP:rs1044140</ul>									<li>rs1044140</li><li>rs1133285</li>	2
Q9NRL3	29888	<ul><li>V->I at 568: in dbSNP:rs10409124</ul>									rs10409124	2
Q9NRM0	56606	<ul><li>S->N at 22<li>R->G at 25: in dbSNP rsrs2276961<li>E->D at 191<li>G->R at 216<li>T->M at 275<li>D->H at 281<li>V->I at 282: in dbSNP:rs16890979<li>R->H at 294: in dbSNP:rs3733591<li>R->H at 300<li>L->P at 350: in dbSNP rsrs2280205</ul>									<li>rs3733591</li><li>rs2276961</li><li>rs16890979</li><li>rs2280205</li>	2
Q9NRM1	10117	<ul><li>F->L at 576: in dbSNP:rs2609428<li>I->T at 648: in dbSNP:rs7671281<li>P->L at 724: in dbSNP:rs3796703<li>R->Q at 763: in dbSNP:rs3796704<li>D->G at 767: in dbSNP:rs3796705</ul>									<li>rs3796703</li><li>rs3796704</li><li>rs3796705</li><li>rs2609428</li><li>rs7671281</li>	2
Q9NRM2	11179	<ul><li>I->L at 320: in a breast cancer sample; somatic mutation<li>L->F at 433: in a breast cancer sample; somatic mutation</ul>										2
Q9NRM6	55540	<ul><li>G->S at 177: in dbSNP:rs2232337<li>A->V at 209: in dbSNP:rs2232340<li>R->Q at 232: in dbSNP:rs2232343<li>F->L at 278: in dbSNP:rs2232346<li>I->T at 451: in dbSNP:rs2232350<li>N->S at 458: in dbSNP:rs2232351<li>C->R at 499: in dbSNP:rs28385751</ul>									<li>rs2232350</li><li>rs2232351</li><li>rs2232340</li><li>rs2232337</li><li>rs28385751</li><li>rs2232346</li><li>rs2232343</li>	2
Q9NRM7	26524	<ul><li>G->E at 40: in a lung adenocarcinoma sample; somatic mutation<li>S->L at 91: in dbSNP:rs55842804<li>A->V at 324: in dbSNP:rs558614<li>G->S at 363: in dbSNP:rs2770928<li>I->V at 799: in dbSNP:rs35368391<li>A->G at 1014: in dbSNP:rs45523141<li>L->P at 1025: in dbSNP:rs56116059</ul>									<li>rs45523141</li><li>rs35368391</li><li>rs558614</li><li>rs55842804</li><li>rs56116059</li><li>rs2770928</li>	2
Q9NRN9	29081	<ul><li>V->G at 202: in dbSNP:rs1051387</ul>									rs1051387	2
Q9NRP0	58505	<ul><li>F->L at 9: in a breast cancer sample; somatic mutation</ul>										2
Q9NRP2	56942	<ul><li>T->S at 11: in dbSNP:rs2303217</ul>									rs2303217	2
Q9NRP7	27148	<ul><li>I->M at 90: in dbSNP rsrs55706732<li>R->W at 240: in dbSNP rsrs35038757<li>K->R at 295: in dbSNP rsrs1863703<li>D->N at 329: in dbSNP rsrs34027859<li>L->V at 462: in dbSNP rsrs45586733<li>K->N at 463: in dbSNP:rs17856747<li>F->S at 476: in dbSNP rsrs34128793<li>R->W at 477: in dbSNP rsrs16859180<li>R->Q at 583: in dbSNP rsrs1344642<li>S->C at 660: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>L->P at 672: in dbSNP rsrs35448374<li>S->T at 767: in dbSNP:rs17856748<li>S->Y at 767: in an ovarian papillary serous adenocarcinoma sample; somatic mutation<li>T->A at 816: in dbSNP rsrs34271431<li>R->Q at 839: in dbSNP rsrs13023540<li>L->V at 840: in dbSNP rsrs36099639<li>G->D at 1003: in dbSNP:rs1863704<li>Y->C at 1111: in dbSNP rsrs56278660<li>R->Q at 1112: in dbSNP rsrs12993599<li>Q->K at 1138: in an ovarian serous carcinoma sample; somatic mutation<li>P->S at 1185: in an ovarian endometrioid sample; somatic mutation<li>H->P at 1313</ul>									<li>rs36099639</li><li>rs12993599</li><li>rs45586733</li><li>rs35038757</li><li>rs34027859</li><li>rs56278660</li><li>rs1863703</li><li>rs35448374</li><li>rs1344642</li><li>rs1863704</li><li>rs13023540</li><li>rs34271431</li><li>rs17856748</li><li>rs17856747</li><li>rs55706732</li><li>rs34128793</li><li>rs16859180</li>	2
Q9NRQ2	57088	<ul><li>N->S at 34: in dbSNP:rs3762685<li>I->V at 155: in dbSNP:rs1061409</ul>									<li>rs1061409</li><li>rs3762685</li>	2
Q9NRR1	54360	<ul><li>S->L at 51: in dbSNP:rs35755546<li>R->C at 136: in dbSNP:rs11722554</ul>									<li>rs35755546</li><li>rs11722554</li>	2
Q9NRR2	25823	<ul><li>M->V at 60: in allele gamma-II; dbSNP:rs760357<li>I->M at 126: in allele gamma-II<li>S->T at 132: in allele gamma-II<li>W->S at 160: in dbSNP:rs4984638<li>L->I at 204: in allele gamma-II<li>L->F at 288: in allele gamma-II; dbSNP:rs1004041</ul>							P30671		<li>rs1004041</li><li>rs4984638</li><li>rs760357</li>	2
Q9NRR4	29102	<ul><li>P->T at 67: in dbSNP:rs35342496</ul>									rs35342496	2
Q9NRR5	56893	<ul><li>I->M at 495: in dbSNP:rs2297792</ul>									rs2297792	2
Q9NRR6	56623	<ul><li>I->M at 201: in dbSNP:rs36064831</ul>									rs36064831	2
Q9NRS4	56649	<ul><li>R->Q at 177: in dbSNP:rs1894176<li>K->E at 198: in dbSNP:rs12270001<li>G->V at 208: in dbSNP:rs1941635</ul>									<li>rs1894176</li><li>rs12270001</li><li>rs1941635</li>	2
Q9NRS6	29907	<ul><li>R->C at 334: in dbSNP:rs495820</ul>									rs495820	2
Q9NRV9	50865	<ul><li>E->D at 183: in dbSNP:rs1941</ul>									rs1941	2
Q9NRW4	56940	<ul><li>R->H at 119: in dbSNP:rs7768224</ul>									rs7768224	2
Q9NRX1	56902	<ul><li>R->G at 11: in dbSNP:rs2044693<li>G->A at 71: in dbSNP:rs7590838</ul>									<li>rs2044693</li><li>rs7590838</li>	2
Q9NRX5	57515	<ul><li>L->V at 199: in dbSNP:rs13210569<li>F->V at 216: in dbSNP:rs13210446<li>S->G at 225: in dbSNP:rs17260829</ul>									<li>rs13210569</li><li>rs17260829</li><li>rs13210446</li>	2
Q9NRY6	57048	<ul><li>I->V at 293: in dbSNP:rs3744549</ul>									rs3744549	2
Q9NS18	51022	<ul><li>K->E at 95: in dbSNP rsrs34237236</ul>									rs34237236	2
Q9NS23	11186	<ul><li>K->Q at 21: in dbSNP:rs4688725<li>R->C at 53<li>D->E at 133<li>S->F at 135: prevents G1 cell cycle arrest; reduced protein phosphorylation<li>A->S at 137: prevents G1 cell cycle arrest; reduced protein phosphorylation; dbSNP:rs2073498<li>Y->C at 329</ul>	<li>phosphorylation</li><li>cell cycle arrest</li>	<li>GO:0016310</li><li>GO:0007050</li>							<li>rs4688725</li><li>rs2073498</li>	2
Q9NS25	100133171	<ul><li>V->L at 74: in dbSNP:rs3208371</ul>									rs3208371	2
Q9NS39	105	<ul><li>A->T at 44: in dbSNP:rs3793733<li>T->M at 210: in a colorectal cancer sample; somatic mutation<li>V->I at 512: in a colorectal cancer sample; somatic mutation<li>A->T at 626: in dbSNP:rs2271275</ul>									<li>rs3793733</li><li>rs2271275</li>	2
Q9NS56	10210	<ul><li>A->T at 154: in dbSNP:rs17855104<li>E->K at 517: in dbSNP:rs17855103<li>N->D at 749: in dbSNP:rs17857515<li>P->R at 812: in dbSNP:rs36034138</ul>									<li>rs17857515</li><li>rs36034138</li><li>rs17855103</li><li>rs17855104</li>	2
Q9NS62	55901	<ul><li>V->G at 125: in dbSNP:rs13313279<li>R->G at 224: in dbSNP:rs9536062<li>K->R at 768: in dbSNP:rs9536041</ul>									<li>rs9536062</li><li>rs9536041</li><li>rs13313279</li>	2
Q9NS68	55504	<ul><li>S->T at 31: in dbSNP:rs9550987<li>V->I at 405: in dbSNP:rs3751362</ul>									<li>rs3751362</li><li>rs9550987</li>	2
Q9NS71	56287	<ul><li>K->T at 118: in a breast cancer sample; somatic mutation</ul>										2
Q9NS73	51562	<ul><li>L->H at 7: in dbSNP:rs2899849<li>R->S at 22: in dbSNP:rs3168891</ul>									<li>rs2899849</li><li>rs3168891</li>	2
Q9NS82	56301	<ul><li>E->D at 112: in a family with cystinuria<li>R->Q at 413: in dbSNP:rs34663170</ul>									rs34663170	2
Q9NS86	55915	<ul><li>I->V at 74: in dbSNP:rs6961412</ul>									rs6961412	2
Q9NS87	56992	<ul><li>A->V at 211: in dbSNP:rs34862960<li>T->S at 996: in dbSNP:rs11710339<li>L->M at 1206: in dbSNP:rs3804583<li>E->D at 1272: in dbSNP:rs17076986</ul>									<li>rs3804583</li><li>rs34862960</li><li>rs17076986</li><li>rs11710339</li>	2
Q9NS91	56852	<ul><li>E->A at 6: in dbSNP:rs45520133<li>Q->R at 302: in dbSNP:rs373572<li>I->V at 307: in dbSNP rsrs45569933</ul>									<li>rs45520133</li><li>rs45569933</li><li>rs373572</li>	2
Q9NS93	51768	<ul><li>P->R at 179: in dbSNP:rs34735713<li>P->L at 248: in dbSNP:rs10771314</ul>									<li>rs10771314</li><li>rs34735713</li>	2
Q9NS98	56920	<ul><li>S->N at 180: in dbSNP:rs35811072<li>I->T at 232: in dbSNP:rs2276833<li>V->I at 332: in dbSNP:rs34540591</ul>									<li>rs2276833</li><li>rs34540591</li><li>rs35811072</li>	2
Q9NSA0	55867	<ul><li>V->G at 155: in dbSNP:rs12785832</ul>									rs12785832	2
Q9NSA1	26291	<ul><li>L->P at 174: in dbSNP:rs739320</ul>									rs739320	2
Q9NSB2	3890	<ul><li>R->Q at 184: in dbSNP:rs1613931<li>S->N at 198: in dbSNP:rs1732301<li>I->V at 206: in dbSNP:rs2245203<li>R->C at 446: in dbSNP:rs951773<li>G->R at 497: in dbSNP:rs7297413</ul>									<li>rs951773</li><li>rs2245203</li><li>rs1613931</li><li>rs7297413</li><li>rs1732301</li>	2
Q9NSB4	3888	<ul><li>E->Q at 219: in dbSNP:rs1791634<li>E->D at 452: in dbSNP:rs1732263<li>T->M at 458: in dbSNP:rs2658658</ul>									<li>rs1791634</li><li>rs2658658</li><li>rs1732263</li>	2
Q9NSB8	9455	<ul><li>R->H at 219: in dbSNP:rs7175005<li>I->S at 239: in dbSNP:rs17158223</ul>									<li>rs17158223</li><li>rs7175005</li>	2
Q9NSC2	6299	<ul><li>S->SS at 150<li>Missing at 150<li>S->G at 159: in dbSNP:rs13336129<li>Missing at 164<li>G->E at 1265</ul>									rs13336129	2
Q9NSC5	9454	<ul><li>S->R at 342: in dbSNP:rs1059240</ul>									rs1059240	2
Q9NSC7	55808	<ul><li>V->A at 80: in dbSNP:rs8077382<li>I->V at 424: in dbSNP:rs35948039</ul>									<li>rs35948039</li><li>rs8077382</li>	2
Q9NSD5	6540	<ul><li>V->I at 426: in dbSNP:rs577294</ul>									rs577294	2
Q9NSE4	55699	<ul><li>I->V at 522: in dbSNP:rs11800305</ul>									rs11800305	2
Q9NSE7		<ul><li>S->N at 228: in dbSNP:rs2822558</ul>									rs2822558	2
Q9NSG2	55732	<ul><li>A->S at 481: in dbSNP:rs2272920</ul>									rs2272920	2
Q9NSI2	85395	<ul><li>V->L at 212: in dbSNP:rs3737075</ul>									rs3737075	2
Q9NSI5	150084	<ul><li>R->T at 49: in dbSNP:rs2205204<li>N->K at 156: in dbSNP:rs11908882<li>R->W at 170: in dbSNP:rs8129968<li>D->E at 350: in dbSNP:rs2837225</ul>									<li>rs2837225</li><li>rs2205204</li><li>rs11908882</li><li>rs8129968</li>	2
Q9NSI6	54014	<ul><li>Q->E at 83: in dbSNP:rs2056844<li>S->P at 1511: in dbSNP:rs2183573<li>P->L at 1699: in dbSNP:rs1041439</ul>									<li>rs1041439</li><li>rs2056844</li><li>rs2183573</li>	2
Q9NSI8	64092	<ul><li>G->A at 63: in dbSNP:rs34607574</ul>									rs34607574	2
Q9NSK0	89953	<ul><li>R->H at 72: in dbSNP:rs11558979</ul>									rs11558979	2
Q9NST1	80339	<ul><li>C->G at 99: in dbSNP:rs2076213<li>G->C at 115: in dbSNP:rs2076212<li>I->M at 148: common polymorphism; NAFLD susceptibility; associated with increased insulin secretion and obesity; dbSNP:rs738409<li>T->P at 216: in dbSNP:rs35726887<li>K->E at 434: in dbSNP:rs2294918<li>S->I at 453: common polymorphism; NAFLD susceptibility; dbSNP:rs6006460</ul>	secretion	GO:0046903					<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		<li>rs738409</li><li>rs2076212</li><li>rs6006460</li><li>rs2076213</li><li>rs2294918</li><li>rs35726887</li>	2
Q9NSU2	11277	<ul><li>D->N at 73: in CHBL; loss of function, MIM: 610448<li>R->H at 169: in AGS1 and systemic lupus erythematosus, MIM: 225750<li>A->V at 213: in systemic lupus erythematosus, MIM: 225750<li>D->DD at 255: in AGS1; heterozygous compound with H-169, MIM: 225750<li>D->N at 255: in AGS5; does not affect activity, MIM: 610905<li>V->D at 256: in AGS1, MIM: 225750<li>G->S at 282: in systemic lupus erythematosus; associated in cis with P-302, MIM: 225750<li>R->S at 295: in systemic lupus erythematosus, MIM: 225750<li>A->P at 302: in systemic lupus erythematosus; associated in cis with S-282, MIM: 225750<li>E->G at 321: in dbSNP rsrs55999987, MIM: 225750<li>P->L at 345: in systemic lupus erythematosus, MIM: 225750<li>Y->C at 360: in systemic lupus erythematosus, MIM: 225750<li>G->A at 361: in systemic lupus erythematosus, MIM: 225750</ul>							<li>Q9Y272</li><li>Q62225</li>	<li>Chilblain lupus (CHBL) [MIM:610448]</li><li>Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]</li><li>Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:610905]</li>	rs55999987	2
Q9NSV4	81624	<ul><li>N->S at 363: in dbSNP:rs36084898<li>F->L at 773: in dbSNP:rs35579086<li>E->G at 1041: in dbSNP:rs7491389</ul>									<li>rs35579086</li><li>rs7491389</li><li>rs36084898</li>	2
Q9NSY1	55589	<ul><li>V->M at 68: in a lung squamous cell carcinoma sample; somatic mutation<li>D->V at 212: in dbSNP rsrs56143363<li>R->H at 288: in dbSNP rsrs55782848<li>G->S at 405: in dbSNP:rs2288255<li>T->S at 1002: in dbSNP:rs12507099</ul>									<li>rs56143363</li><li>rs12507099</li><li>rs55782848</li><li>rs2288255</li>	2
Q9NSY2	80765	<ul><li>G->S at 74: in dbSNP:rs4384572</ul>									rs4384572	2
Q9NT22	90187	<ul><li>S->N at 532: in dbSNP:rs2235592</ul>									rs2235592	2
Q9NT68		<ul><li>V->F at 1719: in dbSNP:rs11957063</ul>									rs11957063	2
Q9NTG1	10343	<ul><li>R->Q at 528: in dbSNP:rs6008394<li>A->G at 669: in a breast cancer sample; somatic mutation<li>L->P at 914: in dbSNP:rs6519993<li>T->P at 992: in dbSNP:rs7291444<li>V->A at 993: in dbSNP:rs34798212<li>N->S at 1091: in dbSNP:rs6008384<li>I->M at 1147: in dbSNP:rs36125344<li>N->D at 1411: in dbSNP:rs35276226<li>I->M at 1528: in dbSNP:rs4823496<li>V->I at 1729: in dbSNP:rs9626829<li>T->I at 1875: in a breast cancer sample; somatic mutation</ul>									<li>rs34798212</li><li>rs6519993</li><li>rs7291444</li><li>rs4823496</li><li>rs9626829</li><li>rs6008384</li><li>rs35276226</li><li>rs36125344</li><li>rs6008394</li>	2
Q9NTG7	23410	<ul><li>R->W at 80: in dbSNP:rs28365927<li>V->I at 208: in dbSNP:rs11246020<li>G->S at 369: in dbSNP:rs3020901</ul>									<li>rs11246020</li><li>rs3020901</li><li>rs28365927</li>	2
Q9NTJ3	10051	<ul><li>S->R at 181: in dbSNP:rs35214835<li>N->S at 356: in dbSNP:rs33999879</ul>									<li>rs33999879</li><li>rs35214835</li>	2
Q9NTJ4	4123	<ul><li>V->M at 950: in dbSNP:rs3803467<li>V->I at 960: in dbSNP:rs3803466<li>R->K at 975: in dbSNP:rs5745934</ul>									<li>rs5745934</li><li>rs3803467</li><li>rs3803466</li>	2
Q9NTJ5	22908	<ul><li>Y->F at 434: in dbSNP:rs1468542</ul>									rs1468542	2
Q9NTK1	11067	<ul><li>I->M at 44: in dbSNP:rs11555140</ul>									rs11555140	2
Q9NTK5	29789	<ul><li>E->Q at 168: in a breast cancer sample; somatic mutation</ul>										2
Q9NTM9	51076	<ul><li>P->L at 77: in a breast cancer sample; somatic mutation</ul>										2
Q9NTN3	23169	<ul><li>A->T at 82: in dbSNP:rs10157422</ul>									rs10157422	2
Q9NTQ9	127534	<ul><li>R->C at 103: may be associated with deafness; dbSNP:rs9426009<li>R->Q at 124: may be associated with deafness<li>F->L at 137: in EKV; associated with erythema gyratum repens in some individuals, MIM: 133200<li>R->C at 160: may be associated with deafness, MIM: 133200<li>C->W at 169: may be associated with deafness, MIM: 133200<li>E->A at 204: may be associated with deafness; dbSNP:rs3738346, MIM: 133200</ul>								Erythrokeratodermia variabilis (EKV) [MIM:133200]	<li>rs3738346</li><li>rs9426009</li>	2
Q9NTU4	25858	<ul><li>P->L at 68: in dbSNP:rs2286614</ul>									rs2286614	2
Q9NTW7	55734	<ul><li>D->E at 593: in a breast cancer sample; somatic mutation<li>K->N at 609: in a breast cancer sample; somatic mutation</ul>										2
Q9NTX9	63939	<ul><li>S->G at 95: in a breast cancer sample; somatic mutation<li>Y->C at 380: in dbSNP:rs6027210</ul>									rs6027210	2
Q9NTZ6	10137	<ul><li>N->S at 572: in dbSNP:rs17092928<li>P->L at 921: in dbSNP:rs6121012</ul>									<li>rs6121012</li><li>rs17092928</li>	2
Q9NU02	63926	<ul><li>P->T at 74: in dbSNP:rs7260784<li>L->Q at 324: in dbSNP:rs652633<li>G->E at 412: in dbSNP:rs524625<li>K->N at 694: in a breast cancer sample; somatic mutation<li>R->Q at 742: in dbSNP:rs6087119</ul>									<li>rs524625</li><li>rs652633</li><li>rs6087119</li><li>rs7260784</li>	2
Q9NU22	23195	<ul><li>F->V at 440: in dbSNP:rs4707569<li>I->V at 660: in dbSNP:rs12110451<li>A->V at 1044: in dbSNP:rs34764513<li>S->N at 1559: in dbSNP:rs4140446<li>H->D at 1929: in dbSNP:rs16882099<li>H->P at 2972: in dbSNP:rs34208137<li>E->K at 3004: in dbSNP:rs12530146<li>H->Y at 3423: in dbSNP:rs9294445<li>A->G at 3794: in dbSNP:rs34766278<li>R->L at 3986: in dbSNP:rs17293121<li>A->S at 4044: in dbSNP:rs9353689<li>A->T at 4167: in dbSNP:rs35509794<li>I->T at 4720: in dbSNP:rs16882046<li>D->E at 4783: in dbSNP:rs36040566<li>N->K at 5251: in dbSNP:rs4707557</ul>									<li>rs16882046</li><li>rs9294445</li><li>rs35509794</li><li>rs16882099</li><li>rs36040566</li><li>rs4140446</li><li>rs34208137</li><li>rs4707557</li><li>rs4707569</li><li>rs17293121</li><li>rs12530146</li><li>rs34766278</li><li>rs9353689</li><li>rs34764513</li><li>rs12110451</li>	2
Q9NU23	57226	<ul><li>R->W at 34: in dbSNP:rs11553069<li>K->E at 46: in dbSNP:rs34012596<li>T->P at 60: in dbSNP:rs1055889</ul>									<li>rs34012596</li><li>rs1055889</li><li>rs11553069</li>	2
Q9NU63		<ul><li>N->S at 114: in dbSNP:rs9461544<li>R->H at 166: in TNDM1, MIM: 601410<li>H->N at 193: in TNDM1, MIM: 601410<li>D->V at 284: in dbSNP:rs2535241, MIM: 601410<li>H->D at 374: in TNDM1, MIM: 601410</ul>								Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]	<li>rs2535241</li><li>rs9461544</li>	2
Q9NUA8	9923	<ul><li>A->T at 225: in dbSNP:rs6659222<li>M->I at 267: in dbSNP:rs36115661<li>Y->C at 595: in dbSNP:rs209729<li>V->M at 997: in dbSNP:rs209720</ul>									<li>rs209729</li><li>rs36115661</li><li>rs209720</li><li>rs6659222</li>	2
Q9NUB1	84532	<ul><li>V->M at 488: in dbSNP:rs6050249</ul>									rs6050249	2
Q9NUJ1	55347	<ul><li>I->V at 251: in dbSNP:rs17429033</ul>									rs17429033	2
Q9NUJ3	55346	<ul><li>H->Q at 109: in dbSNP:rs16923785<li>K->R at 178: in dbSNP:rs2273549</ul>									<li>rs16923785</li><li>rs2273549</li>	2
Q9NUL3	27067	<ul><li>M->V at 198: in dbSNP:rs949493</ul>									rs949493	2
Q9NUL7	55794	<ul><li>A->T at 4: in dbSNP:rs237831</ul>									rs237831	2
Q9NUM3	55334	<ul><li>E->D at 64: in dbSNP:rs2296723<li>M->T at 221: in dbSNP:rs2232059<li>R->C at 285: in dbSNP:rs17855898</ul>									<li>rs2232059</li><li>rs17855898</li><li>rs2296723</li>	2
Q9NUM4	54664	<ul><li>T->S at 185: in dbSNP:rs3173615</ul>									rs3173615	2
Q9NUN5	55788	<ul><li>T->A at 144: in dbSNP:rs12214456<li>I->V at 395: in dbSNP:rs17854411<li>D->E at 469: in dbSNP:rs9354880</ul>									<li>rs17854411</li><li>rs12214456</li><li>rs9354880</li>	2
Q9NUQ2	55326	<ul><li>Y->C at 77: in dbSNP:rs17077958</ul>									rs17077958	2
Q9NUQ3	55787	<ul><li>I->V at 246: in dbSNP:rs5969783</ul>									rs5969783	2
Q9NUQ7	55325	<ul><li>N->T at 77: in dbSNP:rs17850669</ul>									rs17850669	2
Q9NUQ8	55324	<ul><li>P->L at 503: in dbSNP:rs11706273<li>R->H at 510: in dbSNP:rs9811715</ul>									<li>rs9811715</li><li>rs11706273</li>	2
Q9NUQ9	51571	<ul><li>N->K at 169</ul>										2
Q9NUR3	55321	<ul><li>L->M at 33: in dbSNP:rs35393697</ul>									rs35393697	2
Q9NUT2	11194	<ul><li>V->I at 152<li>I->T at 165: in a breast cancer sample; somatic mutation<li>A->G at 690: in a breast cancer sample; somatic mutation</ul>										2
Q9NUU6	54491	<ul><li>F->L at 319: in dbSNP:rs16903574</ul>									rs16903574	2
Q9NUV7	55304	<ul><li>L->V at 140: in dbSNP:rs243887</ul>									rs243887	2
Q9NUV9	55303	<ul><li>E->D at 128: in dbSNP:rs2293172</ul>									rs2293172	2
Q9NUW8	55775	<ul><li>E->D at 95: in dbSNP rsrs35114462<li>P->L at 101: in dbSNP:rs35455108<li>A->T at 134: in dbSNP:rs28365054<li>D->G at 187: in dbSNP rsrs35271143<li>R->Q at 304: in dbSNP:rs34452707<li>H->R at 493: in SCAN1; reduces enzyme activity and leads to the accumulation of covalent complexes between TDP1 and DNA, MIM: 607250<li>P->L at 566: in autosomal recessive or sporadic spinocerebellar ataxia affected Japanese individuals, MIM: 607250<li>T->A at 569: in dbSNP:rs35973343, MIM: 607250</ul>							<li>Q8K4Y7</li><li>Q9NUW8</li><li>Q8WVQ1</li><li>P38319</li><li>Q8VCF1</li>	Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1) [MIM:607250]	<li>rs34452707</li><li>rs35455108</li><li>rs35114462</li><li>rs35973343</li><li>rs35271143</li><li>rs28365054</li>	2
Q9NUX5	25913	<ul><li>V->M at 529: in dbSNP:rs34973253</ul>									rs34973253	2
Q9NUZ1	55289	<ul><li>T->M at 255: in dbSNP:rs1554005<li>P->L at 535: in dbSNP:rs17041850</ul>									<li>rs17041850</li><li>rs1554005</li>	2
Q9NV06	25879	<ul><li>I->V at 42: in dbSNP:rs3134253<li>N->S at 70: in dbSNP:rs13272825</ul>									<li>rs3134253</li><li>rs13272825</li>	2
Q9NV12	55281	<ul><li>P->S at 6: in dbSNP:rs292500<li>R->Q at 7: in dbSNP:rs3800592<li>Q->E at 11: in dbSNP:rs11558290<li>L->F at 29: in dbSNP:rs292501<li>A->E at 112: in a colorectal cancer sample; somatic mutation</ul>									<li>rs11558290</li><li>rs292501</li><li>rs292500</li><li>rs3800592</li>	2
Q9NV44		<ul><li>E->G at 2: in dbSNP:rs928777</ul>									rs928777	2
Q9NV58	25897	<ul><li>Q->H at 835: in dbSNP:rs9642785</ul>									rs9642785	2
Q9NV64	55254	<ul><li>S->L at 247: in a breast cancer sample; somatic mutation<li>A->T at 487: in dbSNP:rs1132200</ul>									rs1132200	2
Q9NV66	55253	<ul><li>G->V at 462: in dbSNP:rs2261015<li>H->R at 632: in dbSNP:rs2949097<li>D->N at 671: in dbSNP:rs28450001</ul>									<li>rs2949097</li><li>rs28450001</li><li>rs2261015</li>	2
Q9NV72	55762	<ul><li>P->L at 4: in dbSNP:rs162832<li>I->T at 116: in dbSNP:rs366793<li>K->T at 271: in dbSNP:rs373554<li>R->C at 455: in dbSNP:rs444172</ul>									<li>rs373554</li><li>rs366793</li><li>rs444172</li><li>rs162832</li>	2
Q9NV92	54602	<ul><li>A->V at 136: in dbSNP:rs11549502</ul>									rs11549502	2
Q9NVA1	55245	<ul><li>W->S at 44: in a breast cancer sample; somatic mutation<li>Q->R at 51: in dbSNP:rs4911494<li>P->L at 85: in dbSNP:rs6088810</ul>									<li>rs6088810</li><li>rs4911494</li>	2
Q9NVC3	55238	<ul><li>L->P at 46: in dbSNP:rs7193572<li>T->I at 78: in dbSNP:rs7191331</ul>									<li>rs7193572</li><li>rs7191331</li>	2
Q9NVD3	54093	<ul><li>I->V at 387: in dbSNP:rs2835239<li>E->G at 420: in a colorectal cancer sample; somatic mutation</ul>									rs2835239	2
Q9NVE4	55231	<ul><li>F->L at 217: in dbSNP:rs17853294</ul>									rs17853294	2
Q9NVE5	55230	<ul><li>V->A at 666: in dbSNP:rs838543<li>R->C at 1111: in dbSNP:rs1048603</ul>									<li>rs1048603</li><li>rs838543</li>	2
Q9NVE7	55229	<ul><li>E->K at 475: in a colorectal cancer sample; somatic mutation<li>A->V at 547: in dbSNP:rs7535528<li>Q->R at 684: in dbSNP:rs2494620</ul>									<li>rs2494620</li><li>rs7535528</li>	2
Q9NVF9		<ul><li>R->Q at 227: in dbSNP:rs3737657</ul>									rs3737657	2
Q9NVH0	55218	<ul><li>D->N at 106: in dbSNP:rs35010854<li>Q->H at 393: in dbSNP:rs8007859</ul>									<li>rs35010854</li><li>rs8007859</li>	2
Q9NVH1	55735	<ul><li>V->M at 267: in dbSNP:rs12137794<li>T->A at 290: in dbSNP:rs200454</ul>									<li>rs12137794</li><li>rs200454</li>	2
Q9NVH2	25896	<ul><li>H->R at 425: in dbSNP:rs17851788</ul>									rs17851788	2
Q9NVI1	55215	<ul><li>P->L at 55: in FA; could be a polymorphism; no effect on ubiquitination and DNA repair<li>A->V at 86: in dbSNP:rs17803620<li>Q->K at 686: in dbSNP:rs28378332<li>C->S at 742: in dbSNP:rs2283432<li>H->Y at 858: in FA<li>R->Q at 1285: in FA/FANCI; abolishes function in DNA repair</ul>	DNA repair	GO:0006281							<li>rs2283432</li><li>rs28378332</li><li>rs17803620</li>	2
Q9NVI7	55210	<ul><li>G->D at 15: in dbSNP:rs2274435</ul>									rs2274435	2
Q9NVL1	55199	<ul><li>S->A at 7: in dbSNP:rs12283300<li>P->R at 30: in dbSNP:rs12283346<li>A->V at 70: in dbSNP:rs3935309</ul>									<li>rs3935309</li><li>rs12283300</li><li>rs12283346</li>	2
Q9NVL8	55195	<ul><li>Y->C at 235: in dbSNP:rs1152530</ul>									rs1152530	2
Q9NVM9	55726	<ul><li>M->T at 66: in dbSNP:rs2306852<li>S->P at 227: in a colorectal cancer sample; somatic mutation</ul>									rs2306852	2
Q9NVN8	54552	<ul><li>R->H at 320: in dbSNP:rs2298284</ul>									rs2298284	2
Q9NVP1	8886	<ul><li>G->R at 41: in a breast cancer sample; somatic mutation<li>T->S at 94: in dbSNP:rs1052637<li>K->R at 647: in dbSNP:rs10179772</ul>									<li>rs10179772</li><li>rs1052637</li>	2
Q9NVQ4	55179	<ul><li>A->T at 117: in dbSNP:rs641320<li>L->S at 127: in dbSNP:rs13043</ul>									<li>rs641320</li><li>rs13043</li>	2
Q9NVR5	55172	<ul><li>D->G at 768: in dbSNP:rs9989177</ul>									rs9989177	2
Q9NVR7	55171	<ul><li>K->R at 149: in dbSNP:rs7619912</ul>									rs7619912	2
Q9NVS9	55163	<ul><li>E->K at 50<li>R->Q at 116: in dbSNP:rs17679445<li>R->W at 229: in PNPO deficiency; strong activity decrease, MIM: 610090</ul>							<li>Q9NVS9</li><li>Q5E9K3</li>	Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]	rs17679445	2
Q9NVU0	55718	<ul><li>S->A at 46: in dbSNP:rs2347</ul>									rs2347	2
Q9NVU7	55153	<ul><li>K->Q at 258: in dbSNP:rs15481<li>A->D at 490: in dbSNP:rs34627298<li>C->S at 575: in dbSNP:rs2242471<li>V->I at 660: in dbSNP:rs17001276</ul>									<li>rs34627298</li><li>rs2242471</li><li>rs15481</li><li>rs17001276</li>	2
Q9NVV0	55151	<ul><li>C->S at 254: in dbSNP:rs35232724</ul>									rs35232724	2
Q9NVV2	55150	<ul><li>S->G at 106: in dbSNP:rs2232003</ul>									rs2232003	2
Q9NVV4	55149	<ul><li>R->C at 162: in dbSNP:rs1047991<li>Y->H at 221: in dbSNP:rs17855118<li>C->R at 419: in dbSNP:rs17857517<li>S->N at 546: in dbSNP:rs17855116</ul>									<li>rs1047991</li><li>rs17855116</li><li>rs17857517</li><li>rs17855118</li>	2
Q9NVX0	55142	<ul><li>T->P at 76: in dbSNP:rs34678957</ul>									rs34678957	2
Q9NVX2	54475	<ul><li>Q->K at 319: in a breast cancer sample; somatic mutation</ul>										2
Q9NVX7	55709	<ul><li>D->N at 330: in dbSNP:rs11039302</ul>									rs11039302	2
Q9NVZ3	55707	<ul><li>D->A at 149: in dbSNP:rs35056694</ul>									rs35056694	2
Q9NW13	55131	<ul><li>E->Q at 253: in dbSNP:rs11554671<li>L->P at 351: in ANE syndrome, MIM: 612079</ul>								Alopecia, neurologic defects, and endocrinopathy syndrome (ANE syndrome) [MIM:612079]	rs11554671	2
Q9NW15	55129	<ul><li>R->Q at 462: in dbSNP:rs3772165<li>T->M at 561: in dbSNP:rs17409162<li>V->A at 583: in dbSNP:rs17853862</ul>									<li>rs3772165</li><li>rs17409162</li><li>rs17853862</li>	2
Q9NW38	55120	<ul><li>S->F at 144: in dbSNP:rs36059257</ul>									rs36059257	2
Q9NW97	55092	<ul><li>V->A at 34: in dbSNP:rs17405421<li>R->Q at 92: in dbSNP:rs3766158</ul>									<li>rs3766158</li><li>rs17405421</li>	2
Q9NWF4	55065	<ul><li>R->Q at 70: in dbSNP:rs346822<li>A->V at 271: in dbSNP:rs346821<li>V->M at 296: in dbSNP:rs2304445</ul>									<li>rs346821</li><li>rs2304445</li><li>rs346822</li>	2
Q9NWH7	54558	<ul><li>R->W at 333: in dbSNP:rs1338314<li>C->Y at 478: in dbSNP:rs1056042</ul>									<li>rs1338314</li><li>rs1056042</li>	2
Q9NWH9	79811	<ul><li>V->L at 235: in dbSNP:rs7175939</ul>									rs7175939	2
Q9NWK9	54680	<ul><li>G->R at 9: in dbSNP:rs17399721<li>L->H at 455: in a colorectal cancer sample; somatic mutation</ul>									rs17399721	2
Q9NWL6	54529	<ul><li>R->G at 190: in dbSNP:rs1437880<li>M->T at 434: in dbSNP:rs35137531</ul>									<li>rs1437880</li><li>rs35137531</li>	2
Q9NWM0	54498	<ul><li>Q->K at 340: in a breast cancer sample; somatic mutation<li>H->Y at 522</ul>										2
Q9NWM3	404093	<ul><li>R->H at 169: in dbSNP:rs17762338<li>P->S at 205: in dbSNP:rs2304942<li>R->Q at 316: in dbSNP:rs34800498</ul>									<li>rs34800498</li><li>rs2304942</li><li>rs17762338</li>	2
Q9NWN3	55030	<ul><li>V->A at 432: in dbSNP:rs35070799<li>I->N at 470: in dbSNP:rs1045002<li>L->P at 533: in dbSNP:rs3742569<li>G->V at 704: in dbSNP:rs10138395</ul>									<li>rs1045002</li><li>rs3742569</li><li>rs10138395</li><li>rs35070799</li>	2
Q9NWQ9	55017	<ul><li>L->V at 16: in dbSNP:rs35065609</ul>									rs35065609	2
Q9NWR8	55013	<ul><li>Y->F at 253: in dbSNP:rs13846<li>I->V at 255: in dbSNP:rs1053680</ul>									<li>rs13846</li><li>rs1053680</li>	2
Q9NWS0	55011	<ul><li>M->L at 9: in dbSNP:rs2293012<li>G->E at 10: in dbSNP:rs2293013<li>V->I at 224: in dbSNP:rs13394<li>D->E at 230: in dbSNP:rs34198213<li>P->L at 287: in dbSNP:rs7462</ul>									<li>rs7462</li><li>rs34198213</li><li>rs13394</li><li>rs2293012</li><li>rs2293013</li>	2
Q9NWS1	55010	<ul><li>V->M at 400: in dbSNP:rs12227879</ul>									rs12227879	2
Q9NWS6	55007	<ul><li>L->V at 129: in dbSNP:rs11556482<li>H->R at 239: in dbSNP:rs6007594</ul>									<li>rs6007594</li><li>rs11556482</li>	2
Q9NWS8	55005	<ul><li>S->I at 42: in dbSNP:rs11550103<li>R->H at 47: in dbSNP:rs6934360<li>T->M at 132: in dbSNP:rs3734800</ul>									<li>rs11550103</li><li>rs3734800</li><li>rs6934360</li>	2
Q9NWS9	55663	<ul><li>N->H at 192: in dbSNP:rs893185<li>P->S at 300: in dbSNP:rs36095067<li>R->H at 387: in dbSNP:rs882610</ul>									<li>rs36095067</li><li>rs882610</li><li>rs893185</li>	2
Q9NWT6	55662	<ul><li>P->A at 41: in dbSNP:rs2295778</ul>									rs2295778	2
Q9NWT8	54998	<ul><li>Q->H at 107: in dbSNP:rs3736374</ul>									rs3736374	2
Q9NWU1	54995	<ul><li>F->I at 106: in a breast cancer sample; somatic mutation</ul>										2
Q9NWU5	29093	<ul><li>G->S at 154: in dbSNP:rs3749671</ul>									rs3749671	2
Q9NWW0	54985	<ul><li>P->Q at 92: in dbSNP:rs10508</ul>									rs10508	2
Q9NWW5	54982	<ul><li>R->H at 62: in vLINCL, MIM: 601780<li>E->Q at 72: in vLINCL, MIM: 601780<li>G->D at 123: in vLINCL: in dbSNP rsrs28939384, MIM: 601780<li>Missing  at 154: in vLINCL, MIM: 601780<li>Missing  at 171: in vLINCL, MIM: 601780<li>Y->S at 221: in vLINCL, MIM: 601780<li>M->T at 241: in vLINCL, MIM: 601780<li>Missing  at 265: in vLINCL, MIM: 601780<li>P->L at 299: in vLINCL, MIM: 601780<li>W->R at 300: in vLINCL, MIM: 601780</ul>								Variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL) [MIM:601780]	rs28939384	2
Q9NWW7	54980	<ul><li>Q->P at 314: in dbSNP:rs3213941</ul>									rs3213941	2
Q9NWX6	54974	<ul><li>L->P at 232: in dbSNP:rs2270812</ul>									rs2270812	2
Q9NWY4	54969	<ul><li>K->R at 174: in dbSNP:rs1047642<li>E->D at 331: in dbSNP:rs1047706</ul>									<li>rs1047706</li><li>rs1047642</li>	2
Q9NWZ3	51135	<ul><li>I->V at 5: in dbSNP rsrs56312115<li>S->R at 98: in dbSNP:rs4251469<li>M->V at 355<li>H->R at 390: in dbSNP:rs4251583<li>R->H at 391: in dbSNP rsrs55944915<li>A->T at 428: in dbSNP:rs4251545</ul>									<li>rs55944915</li><li>rs4251469</li><li>rs4251583</li><li>rs4251545</li><li>rs56312115</li>	2
Q9NWZ8	54960	<ul><li>E->V at 195: in dbSNP:rs3747421</ul>									rs3747421	2
Q9NX00	54958	<ul><li>G->S at 120: in dbSNP:rs11083857</ul>									rs11083857	2
Q9NX02	55655	<ul><li>T->M at 221: in dbSNP:rs17699678<li>E->Q at 302: in dbSNP:rs3745904<li>R->K at 364: in dbSNP:rs4306647<li>A->E at 1052: in dbSNP:rs1043673</ul>									<li>rs4306647</li><li>rs17699678</li><li>rs1043673</li><li>rs3745904</li>	2
Q9NX05	54954	<ul><li>T->I at 82: in dbSNP:rs2495783</ul>									rs2495783	2
Q9NX08	54951	<ul><li>A->P at 17: in dbSNP:rs35444219</ul>									rs35444219	2
Q9NX20	54948	<ul><li>G->S at 29: in dbSNP:rs7122468<li>R->Q at 199: in dbSNP:rs12787462<li>R->C at 207: in dbSNP:rs491671</ul>									<li>rs7122468</li><li>rs12787462</li><li>rs491671</li>	2
Q9NX31	51526	<ul><li>V->G at 74: in dbSNP:rs9346</ul>									rs9346	2
Q9NX45	54937	<ul><li>S->L at 14: in dbSNP:rs12873478<li>A->T at 339: in dbSNP:rs2296968</ul>									<li>rs12873478</li><li>rs2296968</li>	2
Q9NX46	54936	<ul><li>E->K at 209: in dbSNP:rs2236387</ul>									rs2236387	2
Q9NX52	54933	<ul><li>L->M at 273: in dbSNP:rs2147914</ul>									rs2147914	2
Q9NX55	25764	<ul><li>S->P at 151: in dbSNP:rs12702</ul>									rs12702	2
Q9NX57	55647	<ul><li>N->S at 134: in dbSNP:rs426453</ul>									rs426453	2
Q9NX58	55646	<ul><li>D->Y at 151: in dbSNP:rs2272739<li>H->R at 265: in dbSNP:rs7376390</ul>									<li>rs7376390</li><li>rs2272739</li>	2
Q9NX61	54929	<ul><li>E->V at 85: in a breast cancer sample; somatic mutation</ul>										2
Q9NX65	54925	<ul><li>A->V at 54: in dbSNP:rs17136369<li>Y->H at 120: in dbSNP:rs27230</ul>									<li>rs17136369</li><li>rs27230</li>	2
Q9NX94	54838	<ul><li>S->P at 302: in dbSNP:rs284860<li>A->S at 320: in dbSNP:rs284859</ul>									<li>rs284859</li><li>rs284860</li>	2
Q9NXA8	23408	<ul><li>F->L at 285: in dbSNP:rs9464003<li>E->G at 305: in dbSNP:rs34162626</ul>									<li>rs34162626</li><li>rs9464003</li>	2
Q9NXB9	54898	<ul><li>T->A at 216: in dbSNP:rs17855038<li>V->M at 225: in dbSNP:rs6919726</ul>									<li>rs6919726</li><li>rs17855038</li>	2
Q9NXD2	54893	<ul><li>R->H at 648: in dbSNP:rs6493352</ul>									rs6493352	2
Q9NXF7	54876	<ul><li>N->S at 45: in dbSNP:rs34085539<li>T->I at 129: in dbSNP:rs7690457</ul>									<li>rs34085539</li><li>rs7690457</li>	2
Q9NXF8	55625	<ul><li>D->N at 44: in a colorectal cancer sample; somatic mutation<li>V->I at 201: in dbSNP:rs13334011</ul>									rs13334011	2
Q9NXG0	54875	<ul><li>R->C at 562: in dbSNP:rs3808782<li>I->T at 695: in dbSNP:rs7035276<li>T->A at 1376: in dbSNP:rs2499057</ul>									<li>rs7035276</li><li>rs2499057</li><li>rs3808782</li>	2
Q9NXG2	55623	<ul><li>E->D at 311: in dbSNP:rs11074471</ul>									rs11074471	2
Q9NXI6	54546	<ul><li>A->T at 23: in dbSNP:rs1541185<li>P->T at 208: in dbSNP:rs35541730</ul>									<li>rs35541730</li><li>rs1541185</li>	2
Q9NXK6	54852	<ul><li>I->T at 24: in dbSNP:rs17853893</ul>									rs17853893	2
Q9NXL2	54848	<ul><li>K->N at 67: in a breast cancer sample; somatic mutation<li>M->V at 88: in dbSNP:rs2276970</ul>									rs2276970	2
Q9NXN4	54834	<ul><li>P->R at 95: in dbSNP:rs12752437<li>G->S at 106: in dbSNP:rs12753610<li>Q->P at 312: in dbSNP:rs12145577<li>T->A at 489: in dbSNP:rs34924570</ul>									<li>rs12752437</li><li>rs12753610</li><li>rs34924570</li><li>rs12145577</li>	2
Q9NXP7		<ul><li>G->C at 22: in dbSNP:rs17851289<li>M->T at 239: in dbSNP:rs34813</ul>									<li>rs17851289</li><li>rs34813</li>	2
Q9NXR5	55608	<ul><li>P->L at 320: in dbSNP:rs3742185</ul>									rs3742185	2
Q9NXR8	54556	<ul><li>D->G at 20: in HNSCC, MIM: 275355</ul>								Head and neck squamous cell carcinomas (HNSCC) [MIM:275355]		2
Q9NXS2	54814	<ul><li>P->L at 214: in dbSNP:rs28708996</ul>									rs28708996	2
Q9NXW2	54788	<ul><li>E->K at 304: in dbSNP:rs3750784</ul>									rs3750784	2
Q9NXZ1	55511	<ul><li>N->K at 741: in dbSNP:rs35470903<li>L->S at 805: in dbSNP:rs4829799</ul>									<li>rs4829799</li><li>rs35470903</li>	2
Q9NY15	23166	<ul><li>M->T at 2506: in dbSNP:rs13303</ul>									rs13303	2
Q9NY25	23601	<ul><li>R->H at 141: in dbSNP:rs35942193</ul>									rs35942193	2
Q9NY27	151987	<ul><li>P->L at 174: in dbSNP:rs2306983<li>S->C at 282: in dbSNP:rs34742137</ul>									<li>rs34742137</li><li>rs2306983</li>	2
Q9NY28	26290	<ul><li>Y->D at 53: in dbSNP:rs10849133<li>Y->N at 53<li>E->K at 234: in dbSNP:rs16931676<li>E->G at 267: in dbSNP:rs34776842<li>F->S at 312: in dbSNP rsrs34829532<li>A->V at 337<li>D->G at 438<li>V->F at 515: in dbSNP:rs1468556<li>V->M at 611: in dbSNP:rs34114277<li>D->G at 630: in dbSNP:rs16931692</ul>									<li>rs16931676</li><li>rs34776842</li><li>rs1468556</li><li>rs34829532</li><li>rs10849133</li><li>rs16931692</li><li>rs34114277</li>	2
Q9NY33	10072	<ul><li>R->H at 76: in dbSNP:rs11826683<li>Q->H at 145: in dbSNP:rs11550299<li>R->H at 678: in dbSNP:rs2305535<li>E->K at 690: in dbSNP:rs12421620</ul>									<li>rs12421620</li><li>rs2305535</li><li>rs11550299</li><li>rs11826683</li>	2
Q9NY46	6328	<ul><li>Missing at 43<li>S->T at 606<li>V->A at 1107: in dbSNP:rs12474273<li>L->S at 1813</ul>									rs12474273	2
Q9NY47	9254	<ul><li>A->V at 138: in dbSNP:rs35497591</ul>									rs35497591	2
Q9NY56	29991	<ul><li>N->K at 61: in dbSNP:rs3180357<li>M->T at 159: in dbSNP:rs2853652</ul>									<li>rs3180357</li><li>rs2853652</li>	2
Q9NY57	55351	<ul><li>G->E at 35: in a metastatic melanoma sample; somatic mutation<li>R->G at 198: in dbSNP:rs3733182<li>R->H at 244: in dbSNP:rs35207488<li>D->V at 310: in dbSNP rsrs56259884<li>K->T at 342: in dbSNP rsrs55961955</ul>									<li>rs56259884</li><li>rs55961955</li><li>rs35207488</li><li>rs3733182</li>	2
Q9NY65	51807	<ul><li>A->V at 128: in dbSNP:rs2234331<li>Q->R at 301: in dbSNP:rs2234333</ul>									<li>rs2234331</li><li>rs2234333</li>	2
Q9NY72	55800	<ul><li>Q->L at 89: in a colorectal cancer sample; somatic mutation<li>S->N at 97: in dbSNP:rs35174956<li>A->T at 195: in a colorectal cancer sample; somatic mutation</ul>									rs35174956	2
Q9NY74	54465	<ul><li>E->D at 50: in a colorectal cancer sample; somatic mutation<li>M->T at 221: in dbSNP:rs13036061<li>S->N at 389: in dbSNP:rs3770657<li>P->L at 715: in dbSNP:rs3770656<li>P->S at 771: in dbSNP:rs3770655</ul>									<li>rs3770657</li><li>rs3770655</li><li>rs3770656</li><li>rs13036061</li>	2
Q9NY84	55350	<ul><li>H->R at 33: in dbSNP rsrs764264<li>T->A at 89: in dbSNP rsrs36012859<li>E->K at 91: in dbSNP rsrs12174042<li>V->A at 222: in dbSNP rsrs6569834</ul>									<li>rs764264</li><li>rs12174042</li><li>rs36012859</li><li>rs6569834</li>	2
Q9NY87	64663	<ul><li>V->F at 59<li>V->L at 59: in dbSNP:rs16993705</ul>									rs16993705	2
Q9NY91	6527	<ul><li>T->M at 4: in dbSNP:rs16990065<li>A->T at 46: in dbSNP:rs2235171</ul>									<li>rs2235171</li><li>rs16990065</li>	2
Q9NY99	54221	<ul><li>S->Y at 168: in dbSNP:rs28505970<li>S->L at 200: in dbSNP:rs6751090<li>I->V at 391: in dbSNP:rs13023962</ul>									<li>rs13023962</li><li>rs6751090</li><li>rs28505970</li>	2
Q9NYA3	342096	<ul><li>W->R at 200: in dbSNP:rs2018461</ul>									rs2018461	2
Q9NYA4	9110	<ul><li>V->L at 170: in dbSNP:rs3744108<li>S->G at 280: in dbSNP:rs2302190<li>V->G at 297: in dbSNP:rs2302189</ul>									<li>rs3744108</li><li>rs2302189</li><li>rs2302190</li>	2
Q9NYB0	54386	<ul><li>K->E at 324: in dbSNP:rs4888444</ul>									rs4888444	2
Q9NYC9	1770	<ul><li>R->H at 151: in dbSNP:rs17599639<li>R->Q at 445: in dbSNP:rs9892256<li>R->L at 771: in a breast cancer sample; somatic mutation<li>R->W at 842: in dbSNP:rs16945138<li>R->W at 1158: in dbSNP:rs8070501<li>T->A at 1221: in dbSNP:rs9916482<li>M->V at 2087: in dbSNP:rs9892290<li>N->S at 2195: in dbSNP:rs3744581<li>Q->H at 2438: in dbSNP:rs2277658<li>D->H at 2653: in a breast cancer sample; somatic mutation<li>K->R at 2961: in dbSNP:rs11870983<li>K->N at 2968: in dbSNP:rs11871037<li>T->N at 3664: in a breast cancer sample; somatic mutation<li>R->Q at 3726: in dbSNP:rs16945431<li>R->W at 3726: in dbSNP:rs3760436<li>D->N at 4036: in dbSNP:rs17612861<li>M->I at 4374: in dbSNP:rs1990236<li>R->C at 4443: in dbSNP:rs9913494<li>W->R at 4462: in dbSNP:rs8074656</ul>									<li>rs1990236</li><li>rs9916482</li><li>rs9892290</li><li>rs9913494</li><li>rs9892256</li><li>rs16945431</li><li>rs17612861</li><li>rs8074656</li><li>rs3760436</li><li>rs17599639</li><li>rs11871037</li><li>rs2277658</li><li>rs16945138</li><li>rs3744581</li><li>rs8070501</li><li>rs11870983</li>	2
Q9NYF0	51339	<ul><li>G->C at 124: in a colorectal cancer sample; somatic mutation<li>D->N at 446: in dbSNP:rs34015825<li>A->V at 464: in dbSNP:rs17832998<li>S->A at 628: in dbSNP:rs17094821<li>S->L at 682: in a colorectal cancer sample; somatic mutation<li>G->S at 697: in dbSNP:rs698025</ul>									<li>rs17094821</li><li>rs34015825</li><li>rs17832998</li><li>rs698025</li>	2
Q9NYF3	51307	<ul><li>R->C at 21: in dbSNP:rs35360938</ul>									rs35360938	2
Q9NYF5	51306	<ul><li>M->V at 802: in dbSNP:rs33956817</ul>									rs33956817	2
Q9NYF8	9774	<ul><li>S->C at 209: in dbSNP:rs6940018<li>Y->D at 459: in dbSNP:rs1967446<li>L->H at 461: in dbSNP:rs1967445<li>N->S at 629: in dbSNP:rs7381749<li>R->C at 875: in dbSNP:rs34541670</ul>									<li>rs1967445</li><li>rs7381749</li><li>rs1967446</li><li>rs34541670</li><li>rs6940018</li>	2
Q9NYG2	51304	<ul><li>H->Q at 220: in dbSNP:rs3210849</ul>									rs3210849	2
Q9NYG8	50801	<ul><li>P->L at 328: in dbSNP:rs953778</ul>									rs953778	2
Q9NYH9	55813	<ul><li>K->R at 35: in dbSNP:rs16967042<li>Q->R at 69: in dbSNP:rs3760454<li>L->V at 134: in dbSNP:rs34859443</ul>									<li>rs16967042</li><li>rs34859443</li><li>rs3760454</li>	2
Q9NYI0	23362	<ul><li>T->M at 186: in dbSNP:rs7016219<li>T->P at 186: in dbSNP:rs7003060<li>P->L at 293: in dbSNP:rs13263453</ul>									<li>rs13263453</li><li>rs7003060</li><li>rs7016219</li>	2
Q9NYJ7	10683	<ul><li>A->T at 115<li>L->Q at 142: in dbSNP:rs55741253<li>F->C at 172: in dbSNP:rs8107127<li>L->P at 218: in dbSNP:rs1110627<li>G->D at 385: in SCDO1, MIM: 277300</ul>								Spondylocostal dysostosis autosomal recessive type 1 (SCDO1) [MIM:277300]	<li>rs55741253</li><li>rs1110627</li><li>rs8107127</li>	2
Q9NYK1	51284	<ul><li>Q->L at 11: in dbSNP:rs179008<li>A->V at 448: in dbSNP:rs5743781</ul>									<li>rs5743781</li><li>rs179008</li>	2
Q9NYK5	54148	<ul><li>P->S at 31: in dbSNP:rs3989369</ul>									rs3989369	2
Q9NYK6	54149	<ul><li>N->K at 115: in dbSNP:rs2824495<li>Q->R at 117: in dbSNP:rs1047976<li>D->E at 136: in dbSNP:rs1047978<li>Q->H at 195: in dbSNP:rs8128004<li>Y->H at 217: in dbSNP:rs2824494</ul>									<li>rs2824495</li><li>rs2824494</li><li>rs1047978</li><li>rs1047976</li><li>rs8128004</li>	2
Q9NYL2	51776	<ul><li>T->M at 267: in dbSNP rsrs6758025<li>A->T at 281: in an ovarian endometrioid sample; somatic mutation<li>A->V at 281: in dbSNP rsrs34683477<li>L->S at 531: in dbSNP:rs3769148<li>R->W at 580: in dbSNP rsrs7593622<li>P->T at 740: in dbSNP rsrs56202258<li>Y->H at 773: in dbSNP rsrs35608243<li>K->T at 784: in dbSNP rsrs55830025</ul>									<li>rs35608243</li><li>rs3769148</li><li>rs6758025</li><li>rs55830025</li><li>rs7593622</li><li>rs56202258</li><li>rs34683477</li>	2
Q9NYL5	51302	<ul><li>R->P at 23: in dbSNP:rs12192544<li>R->H at 103: in dbSNP:rs2277119<li>Y->H at 288: in dbSNP:rs17856332<li>N->K at 324: in dbSNP:rs7761731</ul>									<li>rs12192544</li><li>rs7761731</li><li>rs17856332</li><li>rs2277119</li>	2
Q9NYM4	10888	<ul><li>P->Q at 374: in dbSNP:rs3740868</ul>									rs3740868	2
Q9NYQ3	51179	<ul><li>E->K at 15: in dbSNP:rs34638261<li>L->M at 221: in dbSNP:rs6661625</ul>									<li>rs34638261</li><li>rs6661625</li>	2
Q9NYQ6	9620	<ul><li>I->V at 587: in dbSNP:rs34141466<li>S->W at 664: in dbSNP:rs4823850<li>C->R at 1126: in dbSNP:rs4823561<li>V->I at 1242: in dbSNP:rs6008842<li>Y->H at 1894: in dbSNP:rs34467708<li>L->P at 1994: in dbSNP:rs6008795<li>L->P at 1995: in dbSNP:rs6008794<li>T->M at 2045: in dbSNP:rs12169391<li>I->V at 2107: in dbSNP:rs4044210<li>R->H at 2219: in dbSNP:rs34267201<li>T->A at 2268: in dbSNP:rs6007897<li>C->S at 2797: in dbSNP:rs12165943<li>E->Q at 2903: in dbSNP:rs9615351<li>G->S at 2948: in dbSNP:rs35364389</ul>									<li>rs34467708</li><li>rs12169391</li><li>rs12165943</li><li>rs6008795</li><li>rs34267201</li><li>rs4823561</li><li>rs6008842</li><li>rs9615351</li><li>rs35364389</li><li>rs6008794</li><li>rs4823850</li><li>rs4044210</li><li>rs6007897</li><li>rs34141466</li>	2
Q9NYQ7	1951	<ul><li>A->P at 157: in dbSNP:rs3733085<li>S->T at 805: in dbSNP:rs3821875<li>Q->R at 1758: in dbSNP:rs12107252</ul>									<li>rs3733085</li><li>rs3821875</li><li>rs12107252</li>	2
Q9NYR8	50700	<ul><li>H->Q at 136: in dbSNP:rs1122206<li>M->T at 202: in dbSNP:rs1644731</ul>									<li>rs1122206</li><li>rs1644731</li>	2
Q9NYT0	26499	<ul><li>T->M at 80: in dbSNP:rs34300264</ul>									rs34300264	2
Q9NYU1	55757	<ul><li>A->T at 323: in dbSNP:rs12863903<li>A->S at 328: in dbSNP:rs816142<li>M->L at 994: in dbSNP:rs12876018</ul>									<li>rs12876018</li><li>rs12863903</li><li>rs816142</li>	2
Q9NYV4	51755	<ul><li>P->A at 530: in dbSNP rsrs56121596<li>R->H at 912: in a colorectal adenocarcinoma sample; somatic mutation<li>L->Q at 1189: in dbSNP rsrs56362165<li>P->L at 1275: in dbSNP rsrs34070318</ul>									<li>rs56121596</li><li>rs56362165</li><li>rs34070318</li>	2
Q9NYV6	54700	<ul><li>I->M at 348: in dbSNP:rs2941256</ul>									rs2941256	2
Q9NYV7	50833	<ul><li>N->K at 172: associated with susceptibility to alcoholism; dbSNP:rs846664<li>R->H at 222: in dbSNP:rs860170</ul>									<li>rs846664</li><li>rs860170</li>	2
Q9NYV8	50840	<ul><li>T->A at 86: in dbSNP:rs16925868</ul>									rs16925868	2
Q9NYV9	50838	<ul><li>N->S at 149: in a breast cancer sample; somatic mutation<li>N->S at 259: in dbSNP:rs1015443</ul>									rs1015443	2
Q9NYW0		<ul><li>M->T at 156: in dbSNP:rs597468</ul>									rs597468	2
Q9NYW1	50835	<ul><li>K->Q at 170: in dbSNP:rs11054043<li>V->A at 187: in dbSNP:rs3741845<li>L->V at 238: in dbSNP:rs11054042</ul>									<li>rs3741845</li><li>rs11054042</li><li>rs11054043</li>	2
Q9NYW2	50836	<ul><li>M->V at 308: in dbSNP:rs2537817</ul>									rs2537817	2
Q9NYW3	50837	<ul><li>T->S at 263: in dbSNP:rs3759251<li>M->I at 304: in dbSNP:rs619381</ul>									<li>rs619381</li><li>rs3759251</li>	2
Q9NYW4	54429	<ul><li>G->S at 20: in dbSNP:rs2234013<li>S->I at 26: in dbSNP:rs2227264<li>P->L at 113: in dbSNP:rs2234014<li>Y->C at 167: in dbSNP:rs34529840<li>R->Q at 213: in dbSNP:rs2234015<li>R->L at 294: in dbSNP:rs2234016</ul>									<li>rs2227264</li><li>rs34529840</li><li>rs2234015</li><li>rs2234016</li><li>rs2234013</li><li>rs2234014</li>	2
Q9NYW5	50832	<ul><li>R->Q at 3: in dbSNP:rs2233995<li>F->S at 7: in dbSNP:rs2233998<li>F->L at 62: in dbSNP:rs2233999<li>T->M at 74: in dbSNP:rs2234000<li>V->L at 96: in dbSNP:rs2234001<li>S->N at 171: in dbSNP:rs2234002<li>I->V at 191: in dbSNP:rs2234003</ul>									<li>rs2233995</li><li>rs2233998</li><li>rs2234001</li><li>rs2234000</li><li>rs2234002</li><li>rs2234003</li><li>rs2233999</li>	2
Q9NYW7	50834	<ul><li>R->H at 111: in dbSNP:rs41469<li>C->Y at 141: in dbSNP:rs2234232<li>R->W at 206: in dbSNP:rs2234233</ul>									<li>rs2234233</li><li>rs2234232</li><li>rs41469</li>	2
Q9NYW8	57786	<ul><li>G->E at 229: in dbSNP:rs35352738</ul>									rs35352738	2
Q9NYY1	50604	<ul><li>R->Q at 107: in dbSNP:rs35856950</ul>									rs35856950	2
Q9NYY3	10769	<ul><li>S->T at 14: in an ovarian Endometrioid carcinoma sample; somatic mutation<li>G->S at 92: in a lung adenocarcinoma sample; somatic mutation<li>E->K at 436: in dbSNP rsrs55768901<li>P->L at 487: in dbSNP rsrs55645589</ul>									<li>rs55645589</li><li>rs55768901</li>	2
Q9NYY8	22868	<ul><li>S->N at 15: in dbSNP:rs3762568<li>V->E at 445: in dbSNP:rs13003768</ul>									<li>rs3762568</li><li>rs13003768</li>	2
Q9NYZ2	51312	<ul><li>I->V at 87: in dbSNP:rs2942194<li>R->Q at 96: in dbSNP:rs3736032</ul>									<li>rs3736032</li><li>rs2942194</li>	2
Q9NYZ3	51512	<ul><li>T->A at 181: in dbSNP:rs6008600<li>A->V at 200: in dbSNP:rs34404175<li>A->T at 274: in dbSNP:rs35503220<li>S->N at 322: in dbSNP:rs6008622<li>D->E at 463: in dbSNP:rs6008684<li>S->L at 470: in dbSNP:rs2281192<li>R->W at 506: in dbSNP:rs140054<li>A->T at 635: in dbSNP:rs16995138</ul>									<li>rs35503220</li><li>rs140054</li><li>rs2281192</li><li>rs34404175</li><li>rs6008684</li><li>rs6008622</li><li>rs6008600</li><li>rs16995138</li>	2
Q9NYZ4	27181	<ul><li>S->P at 170: in dbSNP:rs10409962<li>R->G at 388: in dbSNP:rs3829659</ul>									<li>rs10409962</li><li>rs3829659</li>	2
Q9NZ08	51752	<ul><li>E->K at 56: in dbSNP:rs3734016<li>R->P at 127: in dbSNP:rs26653<li>I->M at 276: in dbSNP:rs26618<li>G->D at 346: in dbSNP:rs27895<li>M->V at 349: in dbSNP:rs2287987<li>K->R at 528: in dbSNP:rs30187<li>D->G at 575: in dbSNP:rs6863093<li>D->N at 575: in dbSNP:rs10050860<li>R->Q at 725: in dbSNP:rs17482078<li>Q->E at 730: in dbSNP:rs27044</ul>									<li>rs26618</li><li>rs27044</li><li>rs17482078</li><li>rs27895</li><li>rs3734016</li><li>rs10050860</li><li>rs30187</li><li>rs6863093</li><li>rs2287987</li><li>rs26653</li>	2
Q9NZ09	51271	<ul><li>N->K at 357: in dbSNP:rs16935457</ul>									rs16935457	2
Q9NZ20	50487	<ul><li>A->S at 70: in dbSNP:rs2232176<li>E->Q at 116: in dbSNP:rs2074734<li>L->V at 157: in dbSNP:rs2074735<li>S->R at 322: in dbSNP:rs2072193<li>R->Q at 378: in dbSNP:rs2232183</ul>									<li>rs2072193</li><li>rs2232176</li><li>rs2232183</li><li>rs2074735</li><li>rs2074734</li>	2
Q9NZ43	55850	<ul><li>S->L at 154: in dbSNP:rs414528</ul>									rs414528	2
Q9NZ52	23163	<ul><li>P->L at 574: in a breast cancer sample; somatic mutation</ul>										2
Q9NZ53	50512	<ul><li>V->A at 456: in dbSNP:rs34117815</ul>									rs34117815	2
Q9NZ56	56776	<ul><li>R->G at 1291: in dbSNP:rs12732924<li>R->H at 1468: in dbSNP:rs3795677</ul>									<li>rs12732924</li><li>rs3795677</li>	2
Q9NZ63	51759	<ul><li>Q->H at 70: in dbSNP:rs1237745</ul>									rs1237745	2
Q9NZ94		<ul><li>R->C at 451: in AUTSX1 and ASPGX1, MIM: 300425</ul>								<li>X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]</li><li>X-linked autism 1 (AUTSX1) [MIM:300425]</li>		2
Q9NZA1	100131610	<ul><li>P->H at 257: in dbSNP:rs35822882</ul>									rs35822882	2
Q9NZC2	54209	<ul><li>D->G at 134: in PLOSL: in dbSNP rsrs28939079, MIM: 221770<li>H->Y at 157: in dbSNP:rs2234255, MIM: 221770<li>K->N at 186: in PLOSL: in dbSNP rsrs28937876, MIM: 221770<li>L->P at 211: in dbSNP:rs2234256, MIM: 221770</ul>								Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]	<li>rs28937876</li><li>rs2234255</li><li>rs2234256</li><li>rs28939079</li>	2
Q9NZC3	51573	<ul><li>R->Q at 218: in dbSNP:rs2072086<li>E->K at 328: in dbSNP:rs34137361</ul>									<li>rs34137361</li><li>rs2072086</li>	2
Q9NZC4	26298	<ul><li>A->V at 96: in dbSNP:rs9804460</ul>									rs9804460	2
Q9NZC7	51741	<ul><li>P->L at 98<li>T->S at 111: in a Burkitt lymphoma cell line<li>R->W at 120: in a primary colorectal tumor and a histiocytic lymphoma cell line<li>A->T at 179: in dbSNP:rs12918952<li>L->V at 216: in dbSNP:rs7201683<li>L->F at 272<li>P->A at 282: in dbSNP:rs3764340<li>L->P at 291: in ESCC; somatic mutation, MIM: 133239<li>R->H at 314: in a cervical carcinoma cell line, MIM: 133239</ul>								Esophageal squamous cell carcinoma (ESCC) [MIM:133239]	<li>rs7201683</li><li>rs12918952</li><li>rs3764340</li>	2
Q9NZC9	50485	<ul><li>A->G at 22: in dbSNP:rs17851400<li>A->T at 43: in dbSNP:rs2066524<li>R->H at 114: in dbSNP:rs11555797<li>Y->D at 206: in dbSNP:rs5014982<li>I->F at 207: in dbSNP:rs6734114<li>S->R at 315: in dbSNP:rs2066522<li>E->Q at 377: in dbSNP:rs2066518<li>D->V at 424: in dbSNP:rs2066520<li>L->V at 432: in a breast cancer sample; somatic mutation<li>A->P at 468: in SIOD, MIM: 242900<li>I->N at 548: in SIOD, MIM: 242900<li>S->L at 579: in SIOD, MIM: 242900<li>R->W at 586: in SIOD; impairs without abolishing annealing helicase activity but still binds selectively to fork DNA relative to ssDNA or dsDNA, MIM: 242900<li>R->W at 644: in SIOD, MIM: 242900<li>R->C at 645: in SIOD, MIM: 242900<li>K->Q at 647: in SIOD, MIM: 242900<li>K->T at 647: in SIOD, MIM: 242900<li>D->N at 649: in dbSNP:rs2066523, MIM: 242900<li>T->I at 705: in SIOD, MIM: 242900<li>T->M at 742: in dbSNP:rs2271336, MIM: 242900<li>R->Q at 764: in SIOD; abolishes annealing helicase activity but still binds selectively to fork DNA relative to ssDNA or dsDNA, MIM: 242900<li>R->H at 820: in SIOD, MIM: 242900</ul>							<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q9WJB2</li><li>Q3I5J6</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P22168</li><li>P19751</li><li>Q8V6W7</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>Q8V439</li><li>P17965</li><li>Q91QT2</li><li>Q04561</li><li>Q97ZZ8</li><li>P27411</li><li>P27410</li><li>P27920</li><li>P22591</li><li>Q9PYA3</li><li>P20951</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	<li>rs2066524</li><li>rs5014982</li><li>rs17851400</li><li>rs2066518</li><li>rs2066522</li><li>rs2271336</li><li>rs2066523</li><li>rs2066520</li><li>rs11555797</li><li>rs6734114</li>	2
Q9NZD1	55507	<ul><li>A->D at 18: in dbSNP:rs3741822</ul>									rs3741822	2
Q9NZD4	51327	<ul><li>P->T at 100: in dbSNP:rs36018996</ul>									rs36018996	2
Q9NZE8	51318	<ul><li>P->S at 19: in dbSNP:rs12714176<li>A->T at 24: in dbSNP:rs17851803<li>R->H at 29: in dbSNP:rs1051949<li>A->P at 80: in dbSNP:rs34044771<li>P->L at 81: in dbSNP:rs3192352<li>Y->C at 180: in dbSNP:rs1052065</ul>									<li>rs3192352</li><li>rs34044771</li><li>rs1051949</li><li>rs12714176</li><li>rs1052065</li><li>rs17851803</li>	2
Q9NZH5	10744	<ul><li>P->R at 44: in dbSNP:rs6811863</ul>									rs6811863	2
Q9NZH6	27178	<ul><li>G->V at 31: in dbSNP:rs3811046<li>T->A at 42: in dbSNP:rs3811047<li>P->R at 50: in dbSNP:rs2708943<li>N->S at 54: in dbSNP:rs2723183<li>P->L at 108: in dbSNP:rs2723187<li>R->W at 152: in dbSNP:rs28947200<li>W->R at 164: in dbSNP:rs2708947<li>D->N at 218: in dbSNP:rs2723192</ul>									<li>rs2708947</li><li>rs2723183</li><li>rs2708943</li><li>rs3811046</li><li>rs2723192</li><li>rs3811047</li><li>rs28947200</li><li>rs2723187</li>	2
Q9NZH7	27177	<ul><li>R->C at 36: in dbSNP rsrs34754959</ul>									rs34754959	2
Q9NZH8	56300	<ul><li>Q->K at 69: in dbSNP:rs6707930</ul>									rs6707930	2
Q9NZI5	29841	<ul><li>N->S at 191: in dbSNP:rs16867256<li>V->I at 397: in dbSNP:rs2303920</ul>									<li>rs2303920</li><li>rs16867256</li>	2
Q9NZI7	7342	<ul><li>N->S at 109: in dbSNP:rs3736563<li>T->A at 212: in dbSNP:rs17854430</ul>									<li>rs17854430</li><li>rs3736563</li>	2
Q9NZJ0	51514	<ul><li>A->V at 436: in dbSNP:rs3135474<li>T->K at 694: in dbSNP:rs6540718</ul>									<li>rs6540718</li><li>rs3135474</li>	2
Q9NZJ4	26278	<ul><li>M->I at 1795: in a colorectal cancer sample; somatic mutation<li>V->A at 3369</ul>										2
Q9NZJ5		<ul><li>S->C at 135: in dbSNP:rs867529<li>R->Q at 165: in dbSNP:rs13045<li>D->V at 565<li>R->Q at 587: in WRS; in a Pakistani family; probable complete loss of activity, MIM: 226980<li>S->A at 703: in dbSNP:rs1805165, MIM: 226980<li>P->L at 715, MIM: 226980</ul>							P23381	Wolcott-Rallison syndrome (WRS) [MIM:226980]	<li>rs1805165</li><li>rs13045</li><li>rs867529</li>	2
Q9NZJ6	51805	<ul><li>G->S at 272: in dbSNP:rs6925344<li>H->Y at 329: in dbSNP:rs4144164</ul>									<li>rs4144164</li><li>rs6925344</li>	2
Q9NZK5	51816	<ul><li>H->R at 335: in dbSNP:rs2231495</ul>									rs2231495	2
Q9NZL3	7767	<ul><li>V->M at 118: in dbSNP:rs2068061<li>H->L at 162: in dbSNP:rs4239529<li>K->N at 438: in dbSNP:rs3208201<li>H->D at 506: in dbSNP:rs3746323<li>K->E at 640: in dbSNP:rs3746319</ul>									<li>rs3746323</li><li>rs2068061</li><li>rs3208201</li><li>rs3746319</li><li>rs4239529</li>	2
Q9NZL4	23640	<ul><li>Missing at 25-27</ul>										2
Q9NZL6	23179	<ul><li>Y->S at 174: in a breast cancer sample; somatic mutation<li>V->M at 699: in a breast cancer sample; somatic mutation</ul>										2
Q9NZL9	27430	<ul><li>A->T at 293: in dbSNP:rs17849948</ul>									rs17849948	2
Q9NZM1	26509	<ul><li>V->I at 1136: in dbSNP:rs36032890<li>Y->F at 1198: in dbSNP:rs12256834<li>R->C at 1399: in dbSNP:rs11187393<li>G->A at 1701: in dbSNP:rs34000599<li>R->Q at 1783: in dbSNP:rs11594445</ul>									<li>rs12256834</li><li>rs11594445</li><li>rs11187393</li><li>rs36032890</li><li>rs34000599</li>	2
Q9NZM3	50618	<ul><li>T->A at 253: in dbSNP:rs6744320<li>V->I at 290: in dbSNP:rs7603997<li>I->T at 1286: in dbSNP:rs3731625<li>A->T at 1533: in dbSNP:rs2303291</ul>									<li>rs7603997</li><li>rs2303291</li><li>rs6744320</li><li>rs3731625</li>	2
Q9NZM5	29997	<ul><li>S->R at 16: in dbSNP:rs1042401<li>Q->R at 389: in dbSNP:rs1804994</ul>									<li>rs1804994</li><li>rs1042401</li>	2
Q9NZM6	27039	<ul><li>V->I at 404: in dbSNP:rs1880458<li>P->L at 507: in dbSNP:rs12187140</ul>									<li>rs12187140</li><li>rs1880458</li>	2
Q9NZN4	30846	<ul><li>G->S at 57: in dbSNP:rs34140460</ul>									rs34140460	2
Q9NZN5	23365	<ul><li>Y->F at 973: in dbSNP:rs2305013</ul>									rs2305013	2
Q9NZN8	4848	<ul><li>A->T at 460: in dbSNP:rs11178192</ul>									rs11178192	2
Q9NZN9	23746	<ul><li>V->A at 33: in dbSNP:rs16955859<li>D->H at 90: in dbSNP:rs12449580<li>Y->F at 134: in dbSNP:rs16955851<li>C->R at 239: in LCA4; no significant effect on interaction with NUB1, MIM: 604393</ul>							<li>Q8MJ87</li><li>P32860</li><li>Q9Y5A7</li>	Leber congenital amaurosis type 4 (LCA4) [MIM:604393]	<li>rs16955859</li><li>rs12449580</li><li>rs16955851</li>	2
Q9NZP0	254786	<ul><li>S->L at 69: in dbSNP:rs4318060<li>M->T at 133: in dbSNP:rs11835321<li>A->S at 234: in dbSNP:rs11832940</ul>									<li>rs11832940</li><li>rs11835321</li><li>rs4318060</li>	2
Q9NZP2	341416	<ul><li>P->A at 181: in dbSNP:rs11171466<li>L->P at 209: in dbSNP:rs11171467</ul>									<li>rs11171467</li><li>rs11171466</li>	2
Q9NZP5	81050	<ul><li>M->I at 200: in dbSNP:rs4518168</ul>									rs4518168	2
Q9NZP6	23742	<ul><li>P->Q at 34: in dbSNP:rs35022251<li>R->Q at 37: in a colorectal cancer sample; somatic mutation<li>V->I at 114: in a colorectal cancer sample; somatic mutation<li>W->R at 152: in dbSNP:rs35870568<li>V->A at 212: in dbSNP:rs3784246<li>G->R at 253: in dbSNP:rs1563102<li>N->S at 282: in dbSNP:rs7165533<li>P->A at 343: in dbSNP:rs36025315<li>Q->E at 406: in dbSNP:rs3742950<li>A->T at 757: in dbSNP:rs36032407<li>T->P at 929: in dbSNP:rs34413216</ul>									<li>rs34413216</li><li>rs3742950</li><li>rs36032407</li><li>rs1563102</li><li>rs3784246</li><li>rs36025315</li><li>rs35022251</li><li>rs7165533</li><li>rs35870568</li>	2
Q9NZP8	51279	<ul><li>I->V at 285: in dbSNP:rs3742089</ul>									rs3742089	2
Q9NZQ3	51517	<ul><li>T->S at 324: in dbSNP:rs6785620</ul>									rs6785620	2
Q9NZQ8	29850	<ul><li>N->S at 235: in dbSNP:rs886277<li>V->A at 254: in dbSNP:rs3986599<li>V->L at 335: in dbSNP:rs34350821<li>A->T at 456: in dbSNP:rs34551253</ul>									<li>rs34350821</li><li>rs3986599</li><li>rs886277</li><li>rs34551253</li>	2
Q9NZQ9	29765	<ul><li>N->S at 336: in dbSNP:rs11800088</ul>									rs11800088	2
Q9NZR1	29767	<ul><li>P->A at 63: in dbSNP:rs34791185</ul>									rs34791185	2
Q9NZR2	53353	<ul><li>Q->R at 48: in dbSNP:rs12990449<li>Q->R at 3140: in dbSNP:rs34488772<li>R->C at 3157: in NSCLC cells<li>E->K at 3458: in dbSNP:rs1878740<li>Q->K at 3734: in dbSNP:rs35546150<li>V->L at 4264: in dbSNP:rs17386226</ul>									<li>rs1878740</li><li>rs12990449</li><li>rs35546150</li><li>rs17386226</li><li>rs34488772</li>	2
Q9NZR4	30813	<ul><li>D->E at 144: in PPCD and keratoconus, MIM: 122000<li>L->M at 159: in keratoconus, MIM: 148300<li>G->D at 160: in PPCD, MIM: 122000<li>R->W at 166: in keratoconus; sporadic, MIM: 148300<li>H->R at 244: in keratoconus; could be a polymorphism, MIM: 148300<li>P->R at 247: in a patient with retinal dysfunction, MIM: 148300</ul>								<li>Keratoconus [MIM:148300]</li><li>Posterior polymorphous corneal dystrophy (PPCD) [MIM:122000]</li>		2
Q9NZS2	51348	<ul><li>L->F at 67: in dbSNP:rs2232548</ul>									rs2232548	2
Q9NZS9	51283	<ul><li>M->R at 140: in dbSNP:rs11546303<li>R->H at 245: in dbSNP:rs35377618</ul>									<li>rs35377618</li><li>rs11546303</li>	2
Q9NZT1	51806	<ul><li>S->G at 58: in dbSNP:rs11546426<li>K->R at 74: in dbSNP:rs10904516</ul>									<li>rs10904516</li><li>rs11546426</li>	2
Q9NZT2	11054	<ul><li>S->T at 577: in dbSNP:rs6122315</ul>									rs6122315	2
Q9NZU0	23767	<ul><li>A->T at 377: in dbSNP:rs8120693<li>H->Q at 400: in dbSNP:rs6079391<li>E->D at 460: in dbSNP:rs35253731</ul>									<li>rs35253731</li><li>rs6079391</li><li>rs8120693</li>	2
Q9NZV1	51232	<ul><li>E->K at 502: in dbSNP:rs12997487</ul>									rs12997487	2
Q9NZV5	57190	<ul><li>T->A at 137: in dbSNP:rs35019869<li>C->Y at 142: in dbSNP:rs7349185<li>G->E at 273: in RSMD1<li>H->R at 293: in RSMD1 and MmD<li>G->S at 315: in MmD and MB-DRM<li>N->I at 340: in MmD<li>W->S at 453: in MmD<li>U->G at 462: in MmD<li>R->Q at 466: in RSMD1 and MmD<li>K->N at 502: in dbSNP:rs2294228</ul>							O60565		<li>rs7349185</li><li>rs35019869</li><li>rs2294228</li>	2
Q9NZV7	23619	<ul><li>A->T at 110: in dbSNP:rs2191432<li>Q->R at 408: in dbSNP:rs8112407<li>R->K at 473: in dbSNP:rs10422475</ul>									<li>rs2191432</li><li>rs8112407</li><li>rs10422475</li>	2
Q9NZW4	1834	<ul><li>Y->D at 6: in DTDP2; causes a failure of translocation of the encoded proteins into the endoplasmic reticulum and is therefore likely to lead to a loss of function of both DSP and DPP, MIM: 125420<li>A->V at 15: in DGI2, MIM: 125420<li>P->S at 17: in DGI2, MIM: 125420<li>P->T at 17: in DFNA39/DGI1: in dbSNP rsrs28929492, MIM: 605594<li>V->F at 18: in DFNA39/DGI1 and DGI3, MIM: 125500<li>R->W at 68: in DGI2; dbSNP:rs36094464, MIM: 125500<li>D->N at 243: in dbSNP:rs3750025, MIM: 125500</ul>					endoplasmic reticulum	GO:0005783	<li>P15924</li><li>Q9NZW4</li><li>Q62598</li><li>P97399</li>	<li>Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500]</li><li>Autosomal dominant deafness type 39 with dentinogenesis imperfecta 1 syndrome (DFNA39/DGI1) [MIM:605594]</li><li>Dentin dysplasia type 2 (DTDP2) [MIM:125420]</li>	<li>rs3750025</li><li>rs28929492</li><li>rs36094464</li>	2
Q9NZZ3	51510	<ul><li>S->P at 86: in dbSNP:rs11540558</ul>									rs11540558	2
Q9P003	29097	<ul><li>A->G at 3: in dbSNP:rs12123896</ul>									rs12123896	2
Q9P032	29078	<ul><li>L->P at 65: in complex I deficiency</ul>							Q07842			2
Q9P035	51495	<ul><li>E->K at 56: in dbSNP:rs11632737<li>M->L at 269: in dbSNP:rs2279854</ul>									<li>rs2279854</li><li>rs11632737</li>	2
Q9P0J0	51079	<ul><li>K->N at 5: in a Hurthle cell variant of papillary carcinoma sample<li>R->P at 115: in a Hurthle cell variant of papillary carcinoma sample</ul>										2
Q9P0J1	54704	<ul><li>Missing  at 284: in PDP deficiency; low activity</ul>							<li>P35816</li><li>Q9P0J1</li><li>P25773</li>			2
Q9P0K1	53616	<ul><li>P->R at 81: in dbSNP:rs2279542<li>H->Y at 119: in dbSNP:rs4728730<li>V->I at 207: in dbSNP:rs17255978</ul>									<li>rs4728730</li><li>rs17255978</li><li>rs2279542</li>	2
Q9P0K7	26064	<ul><li>A->T at 44: in dbSNP:rs17521570</ul>									rs17521570	2
Q9P0K8	55810	<ul><li>P->R at 229: in dbSNP:rs35642012<li>P->S at 310: in dbSNP:rs2277415</ul>									<li>rs35642012</li><li>rs2277415</li>	2
Q9P0L0	9218	<ul><li>M->T at 8: in dbSNP:rs1044163<li>P->L at 104: in dbSNP:rs1127666</ul>									<li>rs1127666</li><li>rs1044163</li>	2
Q9P0L1	55888	<ul><li>R->C at 24: in dbSNP:rs35696191<li>F->S at 153: in dbSNP:rs13081859<li>T->I at 342: in dbSNP:rs34396823<li>E->K at 359: in dbSNP:rs34181686<li>T->A at 432: in dbSNP:rs9835485<li>T->I at 483: in dbSNP:rs9873604<li>S->F at 746: in dbSNP:rs34437520</ul>									<li>rs9835485</li><li>rs35696191</li><li>rs13081859</li><li>rs34181686</li><li>rs34396823</li><li>rs34437520</li><li>rs9873604</li>	2
Q9P0L2	4139	<ul><li>Y->C at 233: in a gastric adenocarcinoma sample; somatic mutation<li>N->T at 355: in an ovarian serous carcinoma sample; somatic mutation<li>V->M at 530: in dbSNP rsrs56212551<li>P->L at 578: in dbSNP rsrs55691439<li>R->G at 645: in dbSNP:rs12123778<li>E->G at 691: in dbSNP rsrs55688276</ul>									<li>rs12123778</li><li>rs56212551</li><li>rs55691439</li><li>rs55688276</li>	2
Q9P0L9	9033	<ul><li>R->Q at 278: in dbSNP:rs17112895<li>R->W at 378: in dbSNP:rs7909153<li>V->I at 393: in dbSNP:rs2278842<li>R->L at 681: in dbSNP:rs6584356<li>A->D at 788: in dbSNP:rs12782963</ul>									<li>rs17112895</li><li>rs6584356</li><li>rs12782963</li><li>rs7909153</li><li>rs2278842</li>	2
Q9P0M2	9465	<ul><li>E->K at 4: in dbSNP:rs7771473<li>S->N at 193: in dbSNP:rs1190788</ul>									<li>rs1190788</li><li>rs7771473</li>	2
Q9P0M4	27189	<ul><li>R->G at 25: in dbSNP:rs11465492</ul>									rs11465492	2
Q9P0M9	51264	<ul><li>T->A at 24: in dbSNP:rs17776919</ul>									rs17776919	2
Q9P0N8	51257	<ul><li>A->T at 54: in dbSNP:rs1133893<li>R->P at 219: in dbSNP:rs34099346</ul>									<li>rs1133893</li><li>rs34099346</li>	2
Q9P0N9	51256	<ul><li>L->W at 67: in dbSNP:rs543580<li>A->T at 136: in dbSNP:rs9381921</ul>									<li>rs9381921</li><li>rs543580</li>	2
Q9P0P0	51255	<ul><li>Y->H at 118: in dbSNP:rs6643</ul>									rs6643	2
Q9P0S9	51522	<ul><li>S->R at 106: in dbSNP:rs1045961<li>F->L at 108: in dbSNP:rs1045964<li>N->I at 109: in dbSNP:rs1045967<li>H->D at 112: in dbSNP:rs1045986</ul>									<li>rs1045964</li><li>rs1045961</li><li>rs1045967</li><li>rs1045986</li>	2
Q9P0U3	29843	<ul><li>I->V at 193: in dbSNP:rs17854369<li>A->T at 280: in dbSNP:rs35130318<li>D->G at 350: in dbSNP:rs17854368</ul>									<li>rs17854369</li><li>rs17854368</li><li>rs35130318</li>	2
Q9P0V3	23677	<ul><li>M->T at 155: in dbSNP:rs3731644<li>A->T at 197: in dbSNP:rs3731646</ul>									<li>rs3731646</li><li>rs3731644</li>	2
Q9P0V8	56833	<ul><li>P->T at 5: in dbSNP:rs2494514<li>G->S at 99: in dbSNP:rs34687326<li>V->M at 129: in dbSNP:rs3795331</ul>									<li>rs3795331</li><li>rs34687326</li><li>rs2494514</li>	2
Q9P0V9	151011	<ul><li>L->P at 189: in dbSNP:rs3829701</ul>									rs3829701	2
Q9P0W0	56832	<ul><li>I->N at 97: in dbSNP:rs34933275<li>E->K at 133: in dbSNP:rs700785</ul>									<li>rs700785</li><li>rs34933275</li>	2
Q9P0W5	29970	<ul><li>E->K at 101: in dbSNP:rs3732851<li>A->V at 481: in dbSNP:rs17850021</ul>									<li>rs17850021</li><li>rs3732851</li>	2
Q9P0W8	55812	<ul><li>D->N at 2: in dbSNP:rs4904448<li>V->M at 74: in dbSNP:rs3179969<li>F->L at 119: in dbSNP:rs35137272<li>S->N at 165: in dbSNP:rs17124662<li>G->E at 324: in dbSNP:rs17124677<li>R->Q at 534: in dbSNP:rs10139784</ul>									<li>rs10139784</li><li>rs4904448</li><li>rs17124662</li><li>rs17124677</li><li>rs3179969</li><li>rs35137272</li>	2
Q9P0X4	8911	<ul><li>I->V at 1040: in dbSNP:rs136853<li>T->M at 1513: in dbSNP:rs8141262<li>G->A at 1782: in dbSNP:rs2294369<li>G->R at 1782: in dbSNP:rs2294369</ul>									<li>rs8141262</li><li>rs136853</li><li>rs2294369</li>	2
Q9P107	51291	<ul><li>D->N at 641: in dbSNP:rs12003</ul>									rs12003	2
Q9P109	51301	<ul><li>V->I at 321: in dbSNP:rs4704166<li>P->S at 439: in dbSNP:rs3811987</ul>									<li>rs4704166</li><li>rs3811987</li>	2
Q9P126	51266	<ul><li>I->V at 20: in dbSNP:rs612593<li>S->P at 24: in dbSNP:rs2273986<li>S->F at 28: in dbSNP:rs2273987<li>G->D at 64: in dbSNP:rs583903</ul>									<li>rs2273986</li><li>rs2273987</li><li>rs612593</li><li>rs583903</li>	2
Q9P127	51213	<ul><li>P->S at 14: in dbSNP:rs10482480<li>T->A at 306: in dbSNP:rs35314601</ul>									<li>rs10482480</li><li>rs35314601</li>	2
Q9P1A6	9228	<ul><li>P->Q at 419: in dbSNP:rs2301963<li>T->M at 620: in dbSNP:rs7463888</ul>									<li>rs7463888</li><li>rs2301963</li>	2
Q9P1Q0	51542	<ul><li>S->C at 561: in dbSNP:rs34015596</ul>									rs34015596	2
Q9P1Q5		<ul><li>R->H at 128: in dbSNP:rs4375699<li>V->M at 233: in dbSNP:rs17762735<li>P->S at 285: in dbSNP:rs769427</ul>									<li>rs4375699</li><li>rs769427</li><li>rs17762735</li>	2
Q9P1U0	30834	<ul><li>Q->H at 14: in dbSNP:rs17187658</ul>									rs17187658	2
Q9P1U1	57180	<ul><li>R->Q at 250: in dbSNP:rs2260545</ul>									rs2260545	2
Q9P1V8	161394	<ul><li>L->P at 18: in dbSNP:rs11844594<li>K->E at 370: in dbSNP:rs4903576<li>K->E at 454: in dbSNP:rs2193595</ul>									<li>rs2193595</li><li>rs11844594</li><li>rs4903576</li>	2
Q9P1W3	57156	<ul><li>M->V at 654: in dbSNP:rs2287384</ul>									rs2287384	2
Q9P1W8	55423	<ul><li>V->A at 263: in dbSNP:rs6043409<li>S->L at 286: in dbSNP:rs6034239</ul>									<li>rs6034239</li><li>rs6043409</li>	2
Q9P1W9	11040	<ul><li>G->D at 138: in dbSNP rsrs35044770<li>I->V at 280: in dbSNP rsrs35208542</ul>									<li>rs35208542</li><li>rs35044770</li>	2
Q9P1Y5	57662	<ul><li>P->S at 335: in dbSNP:rs3745358</ul>									rs3745358	2
Q9P1Y6	57661	<ul><li>E->A at 1231: in dbSNP:rs7116027<li>A->V at 1374: in dbSNP:rs7123948<li>A->V at 1449: in dbSNP:rs11246212</ul>									<li>rs11246212</li><li>rs7116027</li><li>rs7123948</li>	2
Q9P1Z0	57659	<ul><li>A->V at 539: in dbSNP:rs35231078<li>M->I at 550: in dbSNP:rs871990<li>N->S at 561: in dbSNP:rs34914463</ul>									<li>rs34914463</li><li>rs871990</li><li>rs35231078</li>	2
Q9P1Z2	57658	<ul><li>R->K at 393: in dbSNP:rs3741659</ul>									rs3741659	2
Q9P1Z3	57657	<ul><li>P->L at 630: in dbSNP:rs35001694</ul>									rs35001694	2
Q9P1Z9	57653	<ul><li>P->H at 301: in dbSNP:rs7864805<li>S->R at 322: in dbSNP:rs17855671<li>L->H at 373: in dbSNP:rs10981558<li>E->K at 917: in dbSNP:rs12353306<li>S->C at 995: in dbSNP:rs2061634<li>F->L at 1146: in dbSNP:rs3747495<li>D->N at 1518: in dbSNP:rs2306093</ul>									<li>rs3747495</li><li>rs2061634</li><li>rs12353306</li><li>rs17855671</li><li>rs10981558</li><li>rs2306093</li><li>rs7864805</li>	2
Q9P202	25861	<ul><li>H->R at 364: in dbSNP:rs10817610<li>R->P at 423: in dbSNP:rs35003670<li>A->T at 440: in dbSNP:rs4978584<li>P->A at 562: in dbSNP:rs12339210<li>M->T at 613: in dbSNP:rs942519<li>Q->H at 752: in dbSNP:rs6478078<li>V->A at 783: in dbSNP:rs2274159<li>N->K at 796: in dbSNP:rs2274158<li>T->M at 813: in dbSNP:rs942519</ul>									<li>rs942519</li><li>rs4978584</li><li>rs35003670</li><li>rs12339210</li><li>rs2274159</li><li>rs2274158</li><li>rs10817610</li><li>rs6478078</li>	2
Q9P206	57648	<ul><li>P->S at 57: in dbSNP:rs11803515<li>S->P at 114: in dbSNP:rs3737994<li>M->V at 232: in dbSNP:rs12730560<li>L->I at 310: in dbSNP:rs11582639<li>P->L at 770: in dbSNP:rs581875<li>E->K at 1021: in dbSNP:rs675928</ul>									<li>rs3737994</li><li>rs675928</li><li>rs11803515</li><li>rs12730560</li><li>rs581875</li><li>rs11582639</li>	2
Q9P209	55722	<ul><li>P->L at 238: in dbSNP:rs869955<li>P->T at 412: in dbSNP:rs12522955<li>T->A at 509: in dbSNP:rs868649</ul>									<li>rs12522955</li><li>rs869955</li><li>rs868649</li>	2
Q9P212	51196	<ul><li>S->T at 469: in dbSNP:rs17508082<li>R->L at 548: in dbSNP:rs17417407<li>S->L at 1484: in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis, MIM: 610725<li>R->P at 1575: in dbSNP:rs2274224, MIM: 610725<li>T->I at 1777: in dbSNP:rs3765524, MIM: 610725<li>H->R at 1927: in dbSNP:rs2274223, MIM: 610725</ul>								Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	<li>rs2274224</li><li>rs2274223</li><li>rs3765524</li><li>rs17417407</li><li>rs17508082</li>	2
Q9P217	57643	<ul><li>V->G at 368: in dbSNP:rs12733746</ul>									rs12733746	2
Q9P219	440193	<ul><li>A->E at 811: in dbSNP:rs17127223<li>A->V at 1028: in dbSNP:rs1970911<li>P->L at 1992: in dbSNP:rs941920</ul>									<li>rs1970911</li><li>rs17127223</li><li>rs941920</li>	2
Q9P225	146754	<ul><li>A->V at 100: in dbSNP:rs35664870<li>S->T at 312: in dbSNP:rs3744254<li>E->G at 1326: in dbSNP:rs11868946<li>R->H at 2548: in dbSNP:rs11656500<li>T->I at 3600: in dbSNP:rs7213894</ul>									<li>rs7213894</li><li>rs11868946</li><li>rs35664870</li><li>rs3744254</li><li>rs11656500</li>	2
Q9P232	5067	<ul><li>S->N at 630: in dbSNP:rs626578</ul>									rs626578	2
Q9P241	57205	<ul><li>T->I at 43: in dbSNP:rs33995001<li>C->R at 171: in dbSNP:rs7683838<li>T->I at 320: in dbSNP:rs35596623<li>A->T at 337: in dbSNP:rs35012290<li>N->S at 511: in dbSNP:rs10003238<li>F->L at 522: in dbSNP:rs6843325<li>P->T at 716: in dbSNP:rs34208443<li>N->S at 720: in dbSNP:rs34169638<li>S->N at 959: in dbSNP:rs17462252<li>R->K at 1183: in dbSNP:rs16851681<li>V->I at 1240: in dbSNP:rs1058793<li>S->T at 1389: in dbSNP:rs4145944<li>A->G at 1392: in dbSNP:rs35375547</ul>									<li>rs7683838</li><li>rs4145944</li><li>rs35012290</li><li>rs34169638</li><li>rs34208443</li><li>rs10003238</li><li>rs1058793</li><li>rs33995001</li><li>rs6843325</li><li>rs17462252</li><li>rs16851681</li><li>rs35596623</li><li>rs35375547</li>	2
Q9P242	57624	<ul><li>T->A at 205: in dbSNP:rs7422680<li>P->T at 586: in dbSNP:rs3748993</ul>									<li>rs7422680</li><li>rs3748993</li>	2
Q9P243	57623	<ul><li>G->R at 64: in dbSNP:rs17778003<li>P->S at 102: in dbSNP:rs12541381<li>R->K at 672: in dbSNP:rs35003767</ul>									<li>rs35003767</li><li>rs12541381</li><li>rs17778003</li>	2
Q9P253	57617	<ul><li>A->S at 913: in a colorectal cancer sample; somatic mutation</ul>										2
Q9P255	57615	<ul><li>T->K at 106: in dbSNP:rs11672238</ul>									rs11672238	2
Q9P260	57614	<ul><li>G->E at 929: in a colorectal cancer sample; somatic mutation</ul>										2
Q9P265	57609	<ul><li>I->V at 792: in dbSNP:rs11169525</ul>									rs11169525	2
Q9P266	57608	<ul><li>E->D at 487: in dbSNP:rs7917573<li>D->N at 494: in dbSNP:rs7917566<li>E->A at 729: in dbSNP:rs7901855<li>R->G at 957: in dbSNP:rs2185724<li>S->T at 1002: in dbSNP:rs3739998<li>A->G at 1095: in dbSNP:rs12240677</ul>									<li>rs3739998</li><li>rs12240677</li><li>rs7917573</li><li>rs7917566</li><li>rs7901855</li><li>rs2185724</li>	2
Q9P267	55777	<ul><li>T->I at 144: in a patient with mental retardation; unknown pathological significance<li>R->H at 461: in two patients with mental retardation; unknown pathological significance<li>D->E at 654: in a patient with mental retardation; unknown pathological significance<li>A->T at 655: in a patient with mental retardation; unknown pathological significance<li>S->N at 677<li>A->T at 857: in a patient with mental retardation; unknown pathological significance<li>T->I at 1048: in a patient with mental retardation; unknown pathological significance</ul>										2
Q9P273	55714	<ul><li>S->C at 385: in dbSNP:rs3749509</ul>									rs3749509	2
Q9P275	57602	<ul><li>V->I at 271: in dbSNP:rs3744793<li>I->M at 489: in dbSNP:rs3744795<li>R->Q at 775: in dbSNP:rs9889908<li>Q->R at 806: in dbSNP:rs3088040<li>K->N at 814: in dbSNP:rs3744797<li>R->C at 828: in dbSNP:rs1057040</ul>									<li>rs3744795</li><li>rs9889908</li><li>rs3744793</li><li>rs3088040</li><li>rs1057040</li><li>rs3744797</li>	2
Q9P278	57600	<ul><li>T->S at 298: in dbSNP:rs2276938</ul>									rs2276938	2
Q9P281	57597	<ul><li>T->A at 1267: in dbSNP:rs7213444<li>R->C at 2479: in dbSNP:rs8746</ul>									<li>rs7213444</li><li>rs8746</li>	2
Q9P283	54437	<ul><li>G->S at 42: in a breast cancer sample; somatic mutation<li>I->T at 220: in dbSNP:rs2276774<li>I->M at 223: in a breast cancer sample; somatic mutation<li>M->T at 742: in dbSNP:rs2276781<li>V->D at 840: in dbSNP:rs2276782<li>S->P at 996: in dbSNP:rs35306342<li>D->G at 1028: in dbSNP:rs2303983</ul>									<li>rs2276781</li><li>rs2276782</li><li>rs2303983</li><li>rs35306342</li><li>rs2276774</li>	2
Q9P286	57144	<ul><li>G->D at 118: in dbSNP rsrs55923311<li>P->A at 187: in dbSNP:rs34280805<li>S->P at 312: in a colorectal adenocarcinoma sample; somatic mutation<li>R->P at 335: in dbSNP:rs11700112<li>S->N at 511: in dbSNP:rs2297345<li>T->N at 538: in a lung adenocarcinoma sample; somatic mutation<li>A->S at 555: in dbSNP rsrs34102290<li>V->I at 604: in a metastatic melanoma sample; somatic mutation<li>G->S at 704: in a metastatic melanoma sample; somatic mutation</ul>									<li>rs55923311</li><li>rs2297345</li><li>rs34102290</li><li>rs34280805</li><li>rs11700112</li>	2
Q9P287	56647	<ul><li>E->Q at 254: in dbSNP:rs17153610</ul>									rs17153610	2
Q9P289	51765	<ul><li>Q->R at 9: in dbSNP rsrs56035648<li>G->W at 36: in a gastric adenocarcinoma sample; somatic mutation<li>R->C at 45: in dbSNP rsrs56044451</ul>									<li>rs56044451</li><li>rs56035648</li>	2
Q9P298	51751	<ul><li>S->N at 86: in dbSNP:rs1071682<li>D->N at 87: in dbSNP:rs2231650</ul>									<li>rs2231650</li><li>rs1071682</li>	2
Q9P2A4	51225	<ul><li>R->Q at 44: in dbSNP:rs2233369</ul>									rs2233369	2
Q9P2B2	5738	<ul><li>V->I at 837: in dbSNP:rs10801922</ul>									rs10801922	2
Q9P2B4	55917	<ul><li>V->M at 296: in dbSNP:rs1175640<li>S->G at 409: in dbSNP:rs12137578</ul>									<li>rs1175640</li><li>rs12137578</li>	2
Q9P2B7	57587	<ul><li>T->A at 238: in dbSNP:rs1133657<li>L->S at 443: in dbSNP:rs6820332</ul>									<li>rs1133657</li><li>rs6820332</li>	2
Q9P2D0	25998	<ul><li>V->I at 1065: in dbSNP:rs12662902<li>A->V at 1185: in dbSNP:rs9449444</ul>									<li>rs9449444</li><li>rs12662902</li>	2
Q9P2D1	55636	<ul><li>H->R at 55: in KAL5, MIM: 612370<li>M->V at 340: in dbSNP:rs41305525, MIM: 612370<li>S->F at 834: in IHH, MIM: 146110<li>I->V at 1028: in CHARGE syndrome, MIM: 214800<li>W->G at 1031: in CHARGE syndrome, MIM: 214800<li>Q->R at 1214: in CHARGE syndrome, MIM: 214800<li>L->R at 1257: in CHARGE syndrome, MIM: 214800<li>L->P at 1294: in CHARGE syndrome, MIM: 214800<li>L->P at 1815: in CHARGE syndrome, MIM: 214800<li>H->R at 2096: in CHARGE syndrome, MIM: 214800<li>R->S at 2319: in CHARGE syndrome, MIM: 214800<li>F->L at 2750: in dbSNP:rs3750308, MIM: 214800<li>A->T at 2789: in IHH, MIM: 146110<li>P->L at 2880: in IHH, MIM: 146110<li>K->E at 2948: in KAL5, MIM: 612370</ul>							<li>Q98938</li><li>P79860</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P97812</li><li>P79711</li><li>Q91612</li><li>P79693</li>	<li>Kallmann syndrome type 5 (KAL5) [MIM:612370]</li><li>CHARGE syndrome [MIM:214800]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li>	<li>rs41305525</li><li>rs3750308</li>	2
Q9P2D3	54497	<ul><li>S->P at 1601: in dbSNP:rs2302657</ul>									rs2302657	2
Q9P2D6	57579	<ul><li>I->V at 725: in dbSNP:rs9455142<li>P->S at 954: in dbSNP:rs16869301<li>D->G at 1242: in dbSNP:rs2747701</ul>									<li>rs16869301</li><li>rs2747701</li><li>rs9455142</li>	2
Q9P2D7	25981	<ul><li>E->D at 205: in dbSNP:rs10460963<li>V->L at 441: in dbSNP:rs13060192<li>V->M at 1502: in dbSNP:rs17052095<li>R->C at 1663: in dbSNP:rs17052097</ul>									<li>rs17052097</li><li>rs13060192</li><li>rs10460963</li><li>rs17052095</li>	2
Q9P2D8	57578	<ul><li>V->A at 1597: in dbSNP:rs28670114<li>V->I at 1670: in dbSNP:rs4905081<li>K->R at 2183: in dbSNP:rs2296687<li>G->S at 2444: in dbSNP:rs7359096</ul>									<li>rs28670114</li><li>rs7359096</li><li>rs4905081</li><li>rs2296687</li>	2
Q9P2E2	57576	<ul><li>M->V at 402: in dbSNP:rs522496<li>E->D at 933: in dbSNP:rs631357</ul>									<li>rs631357</li><li>rs522496</li>	2
Q9P2E3	57169	<ul><li>L->V at 864: in dbSNP:rs2664578<li>T->A at 910: in dbSNP:rs2273148<li>Q->H at 924: in dbSNP:rs238221<li>M->I at 1259: in dbSNP:rs6512577<li>G->S at 1297: in dbSNP:rs36068952<li>T->I at 1351: in dbSNP:rs238209</ul>									<li>rs6512577</li><li>rs2273148</li><li>rs36068952</li><li>rs2664578</li><li>rs238209</li><li>rs238221</li>	2
Q9P2F6	57569	<ul><li>A->T at 522: in dbSNP:rs7936020<li>G->D at 632: in dbSNP:rs17853925</ul>									<li>rs7936020</li><li>rs17853925</li>	2
Q9P2F8	57568	<ul><li>T->A at 49: in dbSNP:rs16857502<li>T->A at 1322: in dbSNP:rs2275307<li>S->L at 1403: in dbSNP:rs1547742<li>G->S at 1639: in dbSNP:rs2275303</ul>									<li>rs2275307</li><li>rs1547742</li><li>rs2275303</li><li>rs16857502</li>	2
Q9P2G1	54467	<ul><li>L->M at 1016: in dbSNP:rs38794</ul>									rs38794	2
Q9P2G9	57563	<ul><li>P->R at 520: in dbSNP:rs17854114</ul>									rs17854114	2
Q9P2H0	57562	<ul><li>A->T at 178: in dbSNP:rs11225086<li>C->G at 238: in dbSNP:rs7926728<li>S->Y at 275: in dbSNP:rs11225089<li>I->T at 281: in dbSNP:rs11225090<li>A->T at 302: in dbSNP:rs11225091<li>P->S at 710: in dbSNP:rs7109614<li>M->T at 1021: in dbSNP:rs7111429<li>N->S at 1077: in dbSNP:rs6590942</ul>									<li>rs7111429</li><li>rs7926728</li><li>rs6590942</li><li>rs11225090</li><li>rs11225089</li><li>rs11225086</li><li>rs11225091</li><li>rs7109614</li>	2
Q9P2H3	57560	<ul><li>H->Q at 105: in ATD2, MIM: 611263<li>Missing  at 549: in ATD2, MIM: 611263<li>T->S at 586: in dbSNP:rs6778728, MIM: 611263<li>A->P at 701: in ATD2, MIM: 611263</ul>								Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]	rs6778728	2
Q9P2J2	57549	<ul><li>G->E at 34: in dbSNP:rs3747617<li>R->P at 474: in dbSNP:rs16842846<li>P->L at 914: in dbSNP:rs35574000<li>S->T at 1026: in dbSNP:rs34749866<li>P->T at 1117: in dbSNP:rs1319080</ul>									<li>rs1319080</li><li>rs34749866</li><li>rs3747617</li><li>rs35574000</li><li>rs16842846</li>	2
Q9P2J5	51520	<ul><li>R->K at 1088: in dbSNP:rs10988</ul>									rs10988	2
Q9P2J8		<ul><li>C->S at 432: in a colorectal cancer sample; somatic mutation</ul>										2
Q9P2K1	57545	<ul><li>E->A at 376: in dbSNP:rs16892095<li>V->I at 660: in dbSNP:rs16892134<li>Q->H at 1096: in JBTS9<li>P->S at 1122: in JBTS9<li>R->C at 1528: in JBTS9<li>L->P at 1551: in JBTS9</ul>									<li>rs16892134</li><li>rs16892095</li>	2
Q9P2K2	57544	<ul><li>E->K at 486: in dbSNP:rs7155490</ul>									rs7155490	2
Q9P2K3	55758	<ul><li>K->R at 42: in dbSNP:rs17856928</ul>									rs17856928	2
Q9P2K5	50804	<ul><li>T->A at 91: in dbSNP:rs8023906<li>S->G at 465: in dbSNP:rs36075490</ul>									<li>rs36075490</li><li>rs8023906</li>	2
Q9P2K8	440275	<ul><li>H->R at 137: in dbSNP rsrs35509999<li>R->W at 166: in dbSNP rsrs34439704<li>I->L at 441: in dbSNP rsrs2291627<li>D->V at 872: in dbSNP rsrs34665481<li>H->Y at 939: in a lung neuroendocrine carcinoma sample; somatic mutation<li>T->R at 1060: in dbSNP rsrs55781333<li>G->C at 1306: in dbSNP rsrs35602605<li>K->R at 1336: in dbSNP rsrs35480871<li>Q->H at 1406: in dbSNP rsrs55721315</ul>									<li>rs55721315</li><li>rs34439704</li><li>rs34665481</li><li>rs35509999</li><li>rs2291627</li><li>rs35480871</li><li>rs35602605</li><li>rs55781333</li>	2
Q9P2K9	57540	<ul><li>L->V at 51: in dbSNP:rs3738159<li>G->S at 182: in dbSNP:rs2817580<li>A->T at 650: in dbSNP:rs2072994<li>G->A at 661: in dbSNP:rs2072993<li>R->H at 948: in dbSNP:rs12096312</ul>									<li>rs2817580</li><li>rs2072994</li><li>rs12096312</li><li>rs2072993</li><li>rs3738159</li>	2
Q9P2L0	57539	<ul><li>Q->R at 18: in dbSNP:rs1060742<li>E->G at 983: in dbSNP:rs1191778</ul>									<li>rs1191778</li><li>rs1060742</li>	2
Q9P2N2	79822	<ul><li>T->S at 190: in dbSNP:rs6506448<li>P->Q at 727: in dbSNP:rs1056408</ul>									<li>rs6506448</li><li>rs1056408</li>	2
Q9P2N4	56999	<ul><li>S->P at 96: in dbSNP:rs36115950<li>S->T at 96: in dbSNP:rs36115950<li>K->E at 1579: in dbSNP:rs17071010<li>D->E at 1674: in dbSNP:rs6787633<li>K->R at 1740: in dbSNP:rs17070967<li>E->Q at 1791: in dbSNP:rs3796381<li>K->E at 1921: in dbSNP:rs17070909<li>R->Q at 1933: in dbSNP:rs17070905</ul>									<li>rs6787633</li><li>rs17070905</li><li>rs36115950</li><li>rs17070967</li><li>rs17070909</li><li>rs3796381</li><li>rs17071010</li>	2
Q9P2N6	55683	<ul><li>V->I at 707: in dbSNP:rs34406082</ul>									rs34406082	2
Q9P2P1	57523	<ul><li>T->M at 457: in dbSNP:rs12437434<li>A->V at 659: in dbSNP:rs8008203<li>A->T at 978: in dbSNP:rs8017377<li>E->K at 997: in dbSNP:rs3742518<li>I->V at 1551: in dbSNP:rs17103672</ul>									<li>rs8008203</li><li>rs3742518</li><li>rs17103672</li><li>rs8017377</li><li>rs12437434</li>	2
Q9P2P6		<ul><li>D->N at 70: in dbSNP:rs3742993<li>R->C at 1124: in dbSNP:rs12594837<li>P->L at 1634: in dbSNP:rs7161810<li>A->V at 2119: in dbSNP:rs16957055<li>R->H at 2591: in dbSNP:rs8030587<li>T->I at 2769: in dbSNP:rs8031218<li>P->S at 2783: in dbSNP:rs11857283<li>R->G at 2929: in dbSNP:rs3742995<li>N->D at 3297: in dbSNP:rs3742993<li>Y->C at 3321: in dbSNP:rs16957061<li>Y->C at 3383: in dbSNP:rs16957061</ul>									<li>rs11857283</li><li>rs8030587</li><li>rs16957061</li><li>rs12594837</li><li>rs8031218</li><li>rs3742993</li><li>rs3742995</li><li>rs16957055</li><li>rs7161810</li>	2
Q9P2Q2	55691	<ul><li>Q->H at 242: in dbSNP:rs11258565</ul>									rs11258565	2
Q9P2R7	8803	<ul><li>V->M at 13: in dbSNP:rs35201084<li>G->R at 118: in EMDSMA, MIM: 612073<li>S->T at 199: in dbSNP:rs7320366, MIM: 612073<li>R->C at 284: in EMDSMA, MIM: 612073</ul>								Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria (EMDSMA) [MIM:612073]	<li>rs7320366</li><li>rs35201084</li>	2
Q9P2S2	9379	<ul><li>L->Q at 81: in dbSNP:rs12273892</ul>									rs12273892	2
Q9P2S6	51281	<ul><li>D->N at 89: in dbSNP:rs35278753<li>I->M at 424: in dbSNP:rs35996697<li>D->V at 451: in dbSNP:rs3796118<li>V->L at 472: in dbSNP:rs3821348<li>T->M at 649: in dbSNP:rs35044862</ul>									<li>rs3821348</li><li>rs35044862</li><li>rs3796118</li><li>rs35996697</li><li>rs35278753</li>	2
Q9P2T0	51298	<ul><li>R->I at 202: in dbSNP:rs2303810<li>R->Q at 267: in dbSNP:rs2278287<li>H->Y at 297: in dbSNP:rs10422863<li>D->N at 353: in dbSNP:rs3764656</ul>									<li>rs3764656</li><li>rs2303810</li><li>rs2278287</li><li>rs10422863</li>	2
Q9P2T1	51292	<ul><li>G->D at 242: in dbSNP:rs34354104</ul>									rs34354104	2
Q9P2U7	57030	<ul><li>P->R at 431: in dbSNP:rs17855709</ul>									rs17855709	2
Q9P2U8	57084	<ul><li>T->S at 40: in a breast cancer sample; somatic mutation<li>N->S at 551: in dbSNP:rs7117340</ul>									rs7117340	2
Q9P2V4	26103	<ul><li>L->M at 154: in dbSNP:rs11200933<li>P->Q at 258: in dbSNP:rs7090059<li>P->T at 389: in dbSNP:rs12262099<li>S->G at 591: in dbSNP:rs3814211</ul>									<li>rs12262099</li><li>rs11200933</li><li>rs3814211</li><li>rs7090059</li>	2
Q9P2W1	29893	<ul><li>Y->N at 163: in dbSNP:rs2292754</ul>									rs2292754	2
Q9P2W7	27087	<ul><li>A->T at 131: in dbSNP:rs35434644</ul>									rs35434644	2
Q9P2W9	53407	<ul><li>D->Y at 32: in dbSNP:rs13134070<li>S->G at 51: in dbSNP:rs36109375<li>S->T at 228: in dbSNP:rs33952588</ul>									<li>rs36109375</li><li>rs13134070</li><li>rs33952588</li>	2
Q9P2X3	55364	<ul><li>D->E at 125: in dbSNP:rs582234<li>V->L at 151: in dbSNP:rs677688</ul>									<li>rs582234</li><li>rs677688</li>	2
Q9P2X7	50514	<ul><li>A->V at 60: in dbSNP:rs2269700</ul>									rs2269700	2
Q9TNN7		<ul><li>N->D at 138: in allele Cw*0504<li>F->S at 140: in allele Cw*0504<li>K->E at 201: in allele Cw*0502<li>EH->DP at 207-208: in allele Cw*0503<li>V->I at 218: in allele Cw*0503<li>A->V at 223: in allele Cw*0503</ul>										2
Q9UBB6	23154	<ul><li>V->E at 392: in a colorectal cancer sample; somatic mutation<li>V->L at 392: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UBB9	24144	<ul><li>N->S at 177: in dbSNP:rs6005062</ul>									rs6005062	2
Q9UBC0	3175	<ul><li>P->A at 75</ul>										2
Q9UBC1	4795	<ul><li>C->R at 224: polymorphism found in the MHC 7.1 haplotype : in dbSNP rsrs3130062</ul>									rs3130062	2
Q9UBC3	1789	<ul><li>R->P at 54: in dbSNP:rs17123590<li>S->P at 270: in ICF, MIM: 242860<li>A->V at 585: in ICF, MIM: 242860<li>A->T at 603: in ICF, MIM: 242860<li>V->A at 606: in ICF, MIM: 242860<li>G->S at 663: in ICF, MIM: 242860<li>L->P at 664: in ICF, MIM: 242860<li>V->G at 699: in ICF, MIM: 242860<li>V->G at 726: in ICF, MIM: 242860<li>A->P at 766: in ICF, MIM: 242860<li>E->ESTP at 806: in ICF, MIM: 242860<li>H->R at 814: in ICF, MIM: 242860<li>D->G at 817: in ICF, MIM: 242860<li>V->M at 818: in ICF, MIM: 242860<li>R->Q at 840: in ICF, MIM: 242860</ul>								Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	rs17123590	2
Q9UBC5	4640	<ul><li>S->SS at 116: in DFNA48<li>V->M at 306: in DFNA48; could be a polymorphism: in dbSNP rsrs55679042, MIM: 607841<li>E->D at 385: in DFNA48, MIM: 607841<li>P->L at 426: in dbSNP:rs4759043, MIM: 607841<li>C->S at 506: in dbSNP:rs12297756, MIM: 607841<li>F->L at 600: in dbSNP:rs2270738, MIM: 607841<li>G->E at 662: in DFNA48; could be a polymorphism: in dbSNP rsrs33962952, MIM: 607841<li>G->D at 674: in DFNA48, MIM: 607841<li>S->F at 797: in DFNA48, MIM: 607841<li>S->P at 910: in DFNA48, MIM: 607841<li>T->I at 996: in dbSNP:rs17119344, MIM: 607841</ul>								Non-syndromic sensorineural deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	<li>rs4759043</li><li>rs33962952</li><li>rs2270738</li><li>rs17119344</li><li>rs12297756</li><li>rs55679042</li>	2
Q9UBC7	85569	<ul><li>I->M at 72: in dbSNP:rs3745833</ul>									rs3745833	2
Q9UBC9	6707	<ul><li>L->V at 149: in dbSNP:rs1055935<li>T->M at 156: in dbSNP:rs2075740</ul>									<li>rs2075740</li><li>rs1055935</li>	2
Q9UBD3	6846	<ul><li>H->D at 28: in dbSNP:rs4301615</ul>									rs4301615	2
Q9UBD5	23595	<ul><li>Q->K at 94: in dbSNP:rs2307365<li>Q->R at 126: in dbSNP:rs2307371<li>V->I at 217: in dbSNP:rs2307389<li>I->V at 247: in dbSNP:rs2307374<li>T->M at 287: in dbSNP:rs2307381<li>T->P at 389: in dbSNP:rs2307372<li>R->C at 588: in dbSNP:rs2307370<li>A->T at 626: in dbSNP:rs28381545</ul>									<li>rs2307370</li><li>rs2307372</li><li>rs2307389</li><li>rs2307371</li><li>rs2307374</li><li>rs28381545</li><li>rs2307365</li><li>rs2307381</li>	2
Q9UBD6	51458	<ul><li>R->C at 202: in dbSNP:rs17807723</ul>									rs17807723	2
Q9UBD9	23529	<ul><li>R->L at 197: in CISS2; incapacity to bind CNTFR alpha; heterozygous compound with a nonsense mutation, MIM: 610313</ul>							<li>Q08406</li><li>P26992</li><li>Q71DR4</li><li>O88507</li><li>P51641</li>	Cold-induced sweating syndrome 2 (CISS2) [MIM:610313]		2
Q9UBE8		<ul><li>V->A at 165: in dbSNP:rs11871287<li>A->T at 331: in a glioblastoma multiforme sample; somatic mutation</ul>									rs11871287	2
Q9UBF1	51438	<ul><li>G->C at 6: in a breast cancer sample; somatic mutation</ul>										2
Q9UBF9	9499	<ul><li>S->I at 33: in a colorectal cancer sample; somatic mutation<li>S->F at 39: in SBM, MIM: 182920<li>Q->R at 50: in dbSNP:rs34717730, MIM: 182920<li>S->F at 55: in LGMD1A and myotilinopathy, MIM: 609200<li>T->I at 57: in LGMD1A; does not abolish interaction with ACTN1; dbSNP:rs28937597, MIM: 159000<li>S->C at 60: in myotilinopathy, MIM: 609200<li>S->F at 60: in myotilinopathy, MIM: 609200<li>Q->K at 74: in dbSNP:rs41431944, MIM: 609200<li>S->I at 95: in myotilinopathy, MIM: 609200</ul>							<li>P12814</li><li>P05094</li><li>Q3B7N2</li>	<li>Spheroid body myopathy (SBM) [MIM:182920]</li><li>Myotilinopathy [MIM:609200]</li><li>Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]</li>	<li>rs28937597</li><li>rs41431944</li><li>rs34717730</li>	2
Q9UBG0	9902	<ul><li>V->I at 43: in dbSNP:rs2014055<li>H->R at 1156: in dbSNP:rs2429387</ul>									<li>rs2014055</li><li>rs2429387</li>	2
Q9UBG3	49860	<ul><li>A->V at 27: in dbSNP:rs35639220<li>Q->H at 374: in dbSNP:rs6695830<li>G->S at 480: in dbSNP:rs3829868</ul>									<li>rs3829868</li><li>rs6695830</li><li>rs35639220</li>	2
Q9UBH0	26525	<ul><li>N->S at 47: in dbSNP rsrs28938777</ul>									rs28938777	2
Q9UBH6	9213	<ul><li>T->A at 491: in dbSNP:rs1061012</ul>									rs1061012	2
Q9UBK2	10891	<ul><li>G->S at 482: in dbSNP:rs8192678<li>T->M at 612: in dbSNP:rs3736265</ul>									<li>rs8192678</li><li>rs3736265</li>	2
Q9UBK8	4552	<ul><li>I->M at 49: may be associated with susceptibility to folate-sensitive NTD; dbSNP:rs1801394<li>Missing  at 81: in cblE<li>V->M at 83: in cblE, MIM: 236270<li>A->T at 156: in cblE, MIM: 236270<li>L->S at 202: in dbSNP:rs1532268, MIM: 236270<li>S->T at 284: in dbSNP:rs2303080, MIM: 236270<li>L->V at 360: in dbSNP:rs10064631, MIM: 236270<li>K->R at 377: in dbSNP:rs162036, MIM: 236270<li>C->R at 432: in cblE, MIM: 236270<li>R->C at 442: in dbSNP:rs2287780, MIM: 236270<li>P->R at 477: in dbSNP:rs16879334, MIM: 236270<li>G->R at 514: in cblE, MIM: 236270<li>G->R at 581: in cblE, MIM: 236270<li>Missing  at 603: in cblE, MIM: 236270<li>H->Y at 622: in dbSNP:rs10380, MIM: 236270</ul>								Methylcobalamin deficiency type E (cblE) [MIM:236270]	<li>rs16879334</li><li>rs1532268</li><li>rs2287780</li><li>rs10064631</li><li>rs1801394</li><li>rs2303080</li><li>rs10380</li><li>rs162036</li>	2
Q9UBL3	9070	<ul><li>S->F at 478: in dbSNP:rs34167006</ul>									rs34167006	2
Q9UBL6	27132	<ul><li>F->L at 77: in dbSNP:rs455527<li>R->Q at 397: in dbSNP:rs28568523<li>K->E at 507: in dbSNP:rs35731090<li>P->L at 633: in dbSNP:rs3751682</ul>									<li>rs35731090</li><li>rs3751682</li><li>rs28568523</li><li>rs455527</li>	2
Q9UBM1	10400	<ul><li>R->W at 3<li>V->I at 58: in dbSNP:rs897453<li>V->M at 175: in dbSNP:rs7946<li>G->R at 194</ul>									<li>rs7946</li><li>rs897453</li>	2
Q9UBM7	1717	<ul><li>P->S at 51: in SLOS, MIM: 270400<li>L->P at 68: in SLOS, MIM: 270400<li>T->M at 93: in SLOS, MIM: 270400<li>L->P at 99: in SLOS, MIM: 270400<li>Q->H at 107: in SLOS, MIM: 270400<li>L->P at 109: in SLOS, MIM: 270400<li>S->C at 113: in SLOS, MIM: 270400<li>H->L at 119: in SLOS: in dbSNP rsrs28938174, MIM: 270400<li>G->V at 138: in SLOS, MIM: 270400<li>I->L at 145: in SLOS, MIM: 270400<li>G->D at 147: in SLOS, MIM: 270400<li>T->M at 154: in SLOS, MIM: 270400<li>L->P at 157: in SLOS, MIM: 270400<li>S->L at 169: in SLOS, MIM: 270400<li>W->C at 182: in SLOS, MIM: 270400<li>W->L at 182: in SLOS, MIM: 270400<li>C->Y at 183: in SLOS, MIM: 270400<li>K->E at 198: in SLOS, MIM: 270400<li>F->S at 235: in SLOS, MIM: 270400<li>R->C at 242: in SLOS, MIM: 270400<li>R->H at 242: in SLOS, MIM: 270400<li>G->R at 244: in SLOS, MIM: 270400<li>A->V at 247: in SLOS, MIM: 270400<li>W->C at 248: in SLOS: in dbSNP rsrs28939698, MIM: 270400<li>F->L at 255: in SLOS, MIM: 270400<li>V->M at 281: in SLOS, MIM: 270400<li>T->I at 289: in SLOS, MIM: 270400<li>I->T at 297: in SLOS, MIM: 270400<li>C->G at 311: in SLOS, MIM: 270400<li>C->Y at 311: in SLOS, MIM: 270400<li>Y->H at 324: in SLOS, MIM: 270400<li>V->L at 326: in SLOS, MIM: 270400<li>G->R at 344: in SLOS, MIM: 270400<li>R->Q at 352: in SLOS, MIM: 270400<li>R->W at 352: in SLOS, MIM: 270400<li>V->A at 353: in SLOS, MIM: 270400<li>R->C at 362: in SLOS, MIM: 270400<li>C->R at 380: in SLOS, MIM: 270400<li>C->S at 380: in SLOS, MIM: 270400<li>C->Y at 380: in SLOS, MIM: 270400<li>S->L at 397: in SLOS, MIM: 270400<li>R->C at 404: in SLOS, MIM: 270400<li>R->S at 404: in SLOS, MIM: 270400<li>H->Y at 405: in SLOS, MIM: 270400<li>Y->H at 408: in SLOS, MIM: 270400<li>G->R at 410: in SLOS, MIM: 270400<li>G->S at 410: in SLOS, MIM: 270400<li>G->S at 425: in dbSNP:rs760242, MIM: 270400<li>H->P at 426: in SLOS, MIM: 270400<li>R->C at 443: in SLOS, MIM: 270400<li>R->Q at 446: in SLOS, MIM: 270400<li>E->K at 448: in SLOS; mild, MIM: 270400<li>E->Q at 448: in SLOS, MIM: 270400<li>R->L at 450: in SLOS, MIM: 270400</ul>								Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	<li>rs760242</li><li>rs28938174</li><li>rs28939698</li>	2
Q9UBM8	25834	<ul><li>S->T at 428: in dbSNP:rs17855890</ul>									rs17855890	2
Q9UBN4	7223	<ul><li>E->K at 138: in a breast cancer sample; somatic mutation</ul>										2
Q9UBN6	8793	<ul><li>P->S at 35: in TRAIL-R4-B: in dbSNP rsrs11135703<li>S->L at 310: in TRAIL-R4-B: in dbSNP rsrs1133782</ul>							Q9UBN6		<li>rs1133782</li><li>rs11135703</li>	2
Q9UBN7	10013	<ul><li>T->I at 994: in dbSNP:rs1127346</ul>									rs1127346	2
Q9UBP0	6683	<ul><li>S->L at 44: rare polymorphism which modifies the phenotype of SPG4 disease; may decrease the activity of the alternative promoter which directs the synthesis of isoform 3 and isoform 4<li>P->Q at 45: rare polymorphism which modifies the phenotype of SPG4 disease<li>L->V at 195: in SPG4, MIM: 182601<li>I->K at 344: in SPG4; abrogates ATPase activity and promotes microtubule binding, MIM: 182601<li>Q->K at 347: in SPG4; promotes microtubule binding, MIM: 182601<li>P->L at 361: in SPG4, MIM: 182601<li>S->C at 362: in SPG4, MIM: 182601<li>G->R at 370: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601<li>L->Q at 378: in SPG4, MIM: 182601<li>F->C at 381: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601<li>N->K at 386: in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601<li>N->S at 386: in SPG4, MIM: 182601<li>K->R at 388: in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi, MIM: 182601<li>M->V at 390: in SPG4, MIM: 182601<li>S->L at 399: in SPG4, MIM: 182601<li>Missing  at 404: in SPG4, MIM: 182601<li>I->V at 406: in SPG4, MIM: 182601<li>S->R at 407: in SPG4, MIM: 182601<li>V->L at 423: in a breast cancer sample; somatic mutation, MIM: 182601<li>R->G at 424: in SPG4, MIM: 182601<li>L->V at 426: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601<li>P->L at 435: in SPG4, MIM: 182601<li>S->F at 436: in SPG4, MIM: 182601<li>D->G at 441: in SPG4, MIM: 182601<li>C->Y at 448: in SPG4; abrogates binding to the tail of beta-3-tubulin, abolishes microtubule severing and promotes the formation of thick microtubule bundles, MIM: 182601<li>R->G at 459: in SPG4, MIM: 182601<li>R->C at 460: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601<li>R->L at 460: in SPG4, MIM: 182601<li>D->V at 470: in SPG4: in dbSNP rsrs28939368, MIM: 182601<li>A->V at 485: in SPG4, MIM: 182601<li>P->L at 489: in SPG4, MIM: 182601<li>D->G at 493: in SPG4, MIM: 182601<li>R->C at 499: in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601<li>R->H at 499: in SPG4, MIM: 182601<li>R->L at 503: in SPG4, MIM: 182601<li>R->W at 503: in SPG4, MIM: 182601<li>E->D at 512: in SPG4, MIM: 182601<li>Missing  at 515: in SPG4, MIM: 182601<li>L->P at 534: in SPG4, MIM: 182601<li>A->Y at 551: in SPG4; requires 2 nucleotide substitutions, MIM: 182601<li>D->N at 555: in SPG4, MIM: 182601<li>A->V at 556: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601<li>G->D at 559: in SPG4, MIM: 182601<li>R->G at 562: in SPG4, MIM: 182601<li>R->Q at 562: in SPG4, MIM: 182601<li>D->H at 584: in SPG4, MIM: 182601<li>W->C at 607: in SPG4, MIM: 182601<li>T->I at 614: in SPG4; variant form with congenital arachnoid cysts, MIM: 182601<li>T->I at 615: in SPG4, MIM: 182601</ul>			<li>microtubule binding</li><li>binding</li><li>ATPase activity</li>	<li>GO:0008017</li><li>GO:0005488</li><li>GO:0016887</li>	<li>ER</li><li>microtubule</li>	<li>GO:0005783</li><li>GO:0005874</li>	<li>Q9ZRB0</li><li>Q9UBP0</li><li>P08841</li><li>Q43695</li><li>Q6VAF8</li><li>P50261</li><li>Q9ZPN8</li><li>P29502</li><li>Q40665</li><li>P33632</li>	Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	rs28939368	2
Q9UBP4	27122	<ul><li>G->R at 335: in dbSNP:rs3206824</ul>									rs3206824	2
Q9UBP5	23493	<ul><li>T->A at 96<li>D->A at 98<li>L->S at 100<li>V->M at 140: in dbSNP:rs3734638</ul>									rs3734638	2
Q9UBQ7	9380	<ul><li>R->Q at 170: in dbSNP:rs12002324</ul>									rs12002324	2
Q9UBR1	51733	<ul><li>A->E at 85: in beta-ureidopropionase deficiency; complete loss of activity: in dbSNP rsrs34035085, MIM: 606673<li>A->D at 340: in dbSNP:rs34110964, MIM: 606673</ul>							<li>Q9UBR1</li><li>Q03248</li><li>Q5RBM6</li><li>Q8VC97</li>	Beta-ureidopropionase deficiency [MIM:606673]	<li>rs34110964</li><li>rs34035085</li>	2
Q9UBR2	1522	<ul><li>P->S at 36<li>A->R at 129: requires 2 nucleotide substitutions<li>A->T at 286: in dbSNP:rs34069356</ul>									rs34069356	2
Q9UBR4	8022	<ul><li>Y->C at 111: in CPHD, MIM: 262600</ul>								Combined pituitary hormone deficiency (CPHD) [MIM:262600]		2
Q9UBS0	6199	<ul><li>P->L at 267: in dbSNP rsrs55987642<li>V->M at 368: in dbSNP rsrs55642995<li>V->A at 420: in dbSNP rsrs13859<li>T->M at 443: in an ovarian mucinous carcinoma sample; somatic mutation</ul>									<li>rs55987642</li><li>rs13859</li><li>rs55642995</li>	2
Q9UBS3	4189	<ul><li>R->H at 136: in dbSNP:rs17155937</ul>									rs17155937	2
Q9UBS4	51726	<ul><li>I->V at 264: in dbSNP:rs8147</ul>									rs8147	2
Q9UBS5	2550	<ul><li>A->V at 20: in dbSNP:rs1805056<li>G->S at 489: in dbSNP:rs1805057<li>F->L at 645: in dbSNP:rs2076489</ul>									<li>rs1805057</li><li>rs1805056</li><li>rs2076489</li>	2
Q9UBT2	10054	<ul><li>L->R at 307: in dbSNP:rs1043062</ul>									rs1043062	2
Q9UBT6	51426	<ul><li>S->R at 423: in dbSNP:rs35257416<li>T->I at 595: in dbSNP:rs5744713<li>I->V at 612: in dbSNP:rs3822587<li>S->N at 635: in dbSNP:rs35501530<li>S->N at 832: in dbSNP:rs5744716</ul>									<li>rs5744713</li><li>rs3822587</li><li>rs35257416</li><li>rs5744716</li><li>rs35501530</li>	2
Q9UBT7	8727	<ul><li>N->T at 91: in dbSNP:rs28361109<li>E->K at 203: in dbSNP:rs28361118<li>T->S at 424: in dbSNP:rs16913734<li>E->Q at 527: in dbSNP:rs7021366<li>D->E at 555: in dbSNP:rs34922868<li>I->N at 593: in dbSNP:rs28361167<li>M->R at 716: in dbSNP:rs28361182</ul>									<li>rs34922868</li><li>rs7021366</li><li>rs28361118</li><li>rs28361109</li><li>rs16913734</li><li>rs28361182</li><li>rs28361167</li>	2
Q9UBU2	27123	<ul><li>R->Q at 146: in dbSNP:rs17037102</ul>									rs17037102	2
Q9UBU3	51738	<ul><li>L->M at 72: in dbSNP:rs696217<li>Q->L at 90: in dbSNP:rs4684677</ul>									<li>rs696217</li><li>rs4684677</li>	2
Q9UBU7	10926	<ul><li>Y->N at 112: in dbSNP:rs1476703<li>H->R at 575: in dbSNP:rs2041049</ul>									<li>rs2041049</li><li>rs1476703</li>	2
Q9UBV2	6400	<ul><li>D->G at 162: in dbSNP:rs11499034<li>V->I at 714: in dbSNP:rs1051193</ul>									<li>rs11499034</li><li>rs1051193</li>	2
Q9UBV4	51384	<ul><li>G->R at 82: in dbSNP:rs2908004<li>V->M at 126: in a colorectal cancer sample; somatic mutation<li>T->I at 263: in dbSNP:rs2707466</ul>									<li>rs2908004</li><li>rs2707466</li>	2
Q9UBV7	11285	<ul><li>A->D at 186: in EDSP<li>L->P at 206: in EDSP</ul>										2
Q9UBW5	51411	<ul><li>S->N at 48: in dbSNP:rs7312857<li>N->D at 529: in dbSNP:rs7954976</ul>									<li>rs7312857</li><li>rs7954976</li>	2
Q9UBX0	8820	<ul><li>N->S at 125: in dbSNP:rs9878928<li>R->C at 160: in SOD; loss of DNA-binding: in dbSNP rsrs28936702, MIM: 182230</ul>			DNA-binding	GO:0003677			<li>O75007</li><li>Q27666</li><li>P24705</li><li>Q9SM64</li><li>P51547</li><li>O12933</li><li>P93258</li><li>O22668</li><li>Q01137</li>	Septooptic dysplasia (SOD) [MIM:182230]	<li>rs9878928</li><li>rs28936702</li>	2
Q9UBX1	8722	<ul><li>Q->R at 153: in dbSNP:rs11550508</ul>									rs11550508	2
Q9UBX5	10516	<ul><li>V->L at 60: in ARMD3: in dbSNP rsrs28939371, MIM: 608895<li>R->Q at 71: in ARMD3: in dbSNP rsrs28939372, MIM: 608895<li>P->S at 87: in ARMD3: in dbSNP rsrs28939373, MIM: 608895<li>I->T at 169: in ARMD3: in dbSNP rsrs28939072, MIM: 608895<li>S->P at 227: in CL type I: in dbSNP rsrs28939370, MIM: 219100<li>R->W at 351: in ARMD3: in dbSNP rsrs28939073, MIM: 608895<li>A->T at 363: in ARMD3, MIM: 608895<li>D->Y at 364: in dbSNP:rs1802492, MIM: 608895<li>G->E at 412: in ARMD3, MIM: 608895</ul>								<li>Autosomal recessive cutis laxa type I (CL type I) [MIM:219100]</li><li>Age-related macular degeneration type 3 (ARMD3) [MIM:608895]</li>	<li>rs28939073</li><li>rs28939370</li><li>rs28939072</li><li>rs28939371</li><li>rs28939372</li><li>rs28939373</li><li>rs1802492</li>	2
Q9UBX7	11012	<ul><li>A->T at 32: in dbSNP:rs2288892<li>G->E at 49: in dbSNP:rs3745539<li>R->C at 166: in dbSNP:rs1048328</ul>									<li>rs1048328</li><li>rs3745539</li><li>rs2288892</li>	2
Q9UBX8	9331	<ul><li>I->V at 379: in dbSNP:rs34683195</ul>									rs34683195	2
Q9UBY0	6549	<ul><li>T->S at 299: in a breast cancer sample; somatic mutation<li>R->Q at 806: in a breast cancer sample; somatic mutation</ul>										2
Q9UBY5	23566	<ul><li>R->Q at 231: in dbSNP:rs35745543</ul>									rs35745543	2
Q9UBY8	2055	<ul><li>L->M at 16: in CLN8; associated with M-170 on the same allele, MIM: 600143<li>R->G at 24: in EPMR, MIM: 610003<li>H->Y at 92: in dbSNP:rs34030778, MIM: 610003<li>A->V at 155, MIM: 610003<li>T->M at 170: in CLN8; associated with M-16 on the same allele, MIM: 600143<li>R->C at 204: in CLN8, MIM: 600143<li>W->C at 263: in CLN8; dbSNP:rs28940569, MIM: 600143</ul>							<li>Q5JZQ7</li><li>Q9UBY8</li>	<li>Neuronal ceroid lipofuscinosis 8 (CLN8) [MIM:600143]</li><li>Progressive epilepsy with mental retardation (EPMR) [MIM:610003]</li>	<li>rs28940569</li><li>rs34030778</li>	2
Q9UBZ4	27301	<ul><li>R->C at 141: in dbSNP:rs2301416<li>R->W at 141: in dbSNP:rs2301416</ul>									rs2301416	2
Q9UBZ9	51455	<ul><li>V->M at 138: in dbSNP:rs3087403<li>F->S at 257: in dbSNP:rs3087386<li>N->D at 306: in dbSNP:rs28382882<li>N->S at 373: in dbSNP:rs3087399<li>M->V at 656: in dbSNP:rs3087394<li>L->W at 660: in dbSNP:rs3087398<li>D->N at 700: in dbSNP:rs28382941<li>R->Q at 704: in dbSNP:rs28382942<li>P->H at 902: in dbSNP:rs28382961<li>P->S at 902: in dbSNP:rs28382960<li>S->I at 921: in dbSNP:rs3087396<li>A->T at 1003: in dbSNP:rs3087401<li>P->T at 1060: in dbSNP:rs3087388<li>N->K at 1074: in dbSNP:rs3087393<li>N->T at 1091: in dbSNP:rs3087392<li>L->P at 1102: in dbSNP:rs3087400</ul>									<li>rs28382882</li><li>rs3087401</li><li>rs3087388</li><li>rs3087403</li><li>rs3087386</li><li>rs3087398</li><li>rs3087399</li><li>rs3087400</li><li>rs3087393</li><li>rs3087394</li><li>rs3087396</li><li>rs28382960</li><li>rs3087392</li><li>rs28382961</li><li>rs28382941</li><li>rs28382942</li>	2
Q9UDT6	7461	<ul><li>R->P at 977: in dbSNP:rs2522943</ul>									rs2522943	2
Q9UDV6	7988	<ul><li>H->Y at 293: in dbSNP:rs34185245</ul>									rs34185245	2
Q9UDV7	8427	<ul><li>M->V at 273: in dbSNP:rs1202418</ul>									rs1202418	2
Q9UDW1	29796	<ul><li>I->V at 47: in dbSNP:rs14115</ul>									rs14115	2
Q9UDX3	284904	<ul><li>S->G at 3: in dbSNP:rs9608956<li>R->G at 124: in dbSNP:rs9606739<li>V->M at 200: in dbSNP:rs17738540<li>E->K at 211: in dbSNP:rs17738527</ul>									<li>rs17738540</li><li>rs9608956</li><li>rs17738527</li><li>rs9606739</li>	2
Q9UDX4	266629	<ul><li>I->T at 103: in dbSNP:rs4820853<li>R->H at 214: in dbSNP:rs2269961<li>D->E at 335: in dbSNP:rs2240345</ul>									<li>rs2269961</li><li>rs4820853</li><li>rs2240345</li>	2
Q9UDY2	9414	<ul><li>V->A at 48: in FHCA, MIM: 607748<li>E->D at 482: in dbSNP:rs2309428, MIM: 607748<li>M->I at 668: in dbSNP:rs34774441, MIM: 607748<li>S->P at 711: in dbSNP:rs35797487, MIM: 607748<li>K->N at 822: in dbSNP:rs1049624, MIM: 607748<li>N->D at 829: in dbSNP:rs1049625, MIM: 607748</ul>								Familial hypercholanemia (FHCA) [MIM:607748]	<li>rs1049624</li><li>rs2309428</li><li>rs1049625</li><li>rs35797487</li><li>rs34774441</li>	2
Q9UDY6	10107	<ul><li>R->H at 65: in dbSNP:rs12212092<li>V->M at 119: in dbSNP:rs17194446</ul>									<li>rs17194446</li><li>rs12212092</li>	2
Q9UDY8	10892	<ul><li>I->V at 641: in dbSNP:rs35533328</ul>									rs35533328	2
Q9UEE5	9263	<ul><li>E->D at 126: in dbSNP rsrs56286238<li>M->T at 167: in dbSNP rsrs35940029<li>E->Q at 286: in dbSNP:rs3779062<li>E->K at 362: in dbSNP:rs1044141</ul>									<li>rs35940029</li><li>rs3779062</li><li>rs56286238</li><li>rs1044141</li>	2
Q9UEE9	10428	<ul><li>A->T at 60: in dbSNP:rs16963331</ul>									rs16963331	2
Q9UEF7	9365	<ul><li>P->Q at 15: in dbSNP:rs1052018<li>F->V at 45: in dbSNP:rs1052019<li>F->V at 352: in allele KL-VS; associated with S-370; dbSNP:rs9536314<li>C->S at 370: in allele KL-VS; associated with V-352; dbSNP:rs9527025<li>P->S at 514: in dbSNP:rs3752472<li>P->L at 954: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3752472</li><li>rs1052019</li><li>rs1052018</li><li>rs9536314</li><li>rs9527025</li>	2
Q9UEG4	23361	<ul><li>P->A at 707: in dbSNP:rs8050758</ul>									rs8050758	2
Q9UEW3	8685	<ul><li>F->S at 282: in dbSNP:rs6761637</ul>									rs6761637	2
Q9UF12	58510	<ul><li>P->R at 91: in dbSNP:rs3848666<li>R->Q at 525: in dbSNP:rs3761097</ul>									<li>rs3848666</li><li>rs3761097</li>	2
Q9UF33	285220	<ul><li>F->S at 703</ul>										2
Q9UF72	57212	<ul><li>P->L at 120: in dbSNP:rs35766062</ul>									rs35766062	2
Q9UFB7	92999	<ul><li>A->T at 9: in dbSNP:rs9878239</ul>									rs9878239	2
Q9UFD9		<ul><li>R->C at 1419: in dbSNP:rs469096</ul>									rs469096	2
Q9UFF9	9337	<ul><li>L->P at 32: in dbSNP:rs1139980</ul>									rs1139980	2
Q9UFH2		<ul><li>D->N at 492: in dbSNP:rs34868091</ul>									rs34868091	2
Q9UFN0	25934	<ul><li>R->Q at 100: in dbSNP:rs2274870</ul>									rs2274870	2
Q9UG01	26160	<ul><li>R->H at 953: in dbSNP:rs704793</ul>									rs704793	2
Q9UG22	26157	<ul><li>V->F at 74: in dbSNP:rs11558054<li>N->S at 152: in dbSNP:rs17173567<li>H->R at 161: in dbSNP:rs2075078</ul>									<li>rs17173567</li><li>rs2075078</li><li>rs11558054</li>	2
Q9UGC7	54516	<ul><li>T->A at 38: in dbSNP:rs3818125<li>R->Q at 76: in dbSNP:rs3818123<li>L->F at 177: in dbSNP:rs12660881<li>V->I at 214: in dbSNP:rs3192723</ul>									<li>rs3818123</li><li>rs3818125</li><li>rs3192723</li><li>rs12660881</li>	2
Q9UGF5	442191	<ul><li>M->T at 7: in dbSNP:rs9257694<li>V->M at 278: in dbSNP:rs17404424</ul>									<li>rs9257694</li><li>rs17404424</li>	2
Q9UGF6	81696	<ul><li>L->W at 23: in dbSNP:rs6930033<li>I->M at 45: in dbSNP:rs9257770</ul>									<li>rs9257770</li><li>rs6930033</li>	2
Q9UGF7	81797	<ul><li>T->I at 97: in dbSNP:rs3749971<li>F->L at 250: in a breast cancer sample; somatic mutation<li>Y->H at 277: in dbSNP:rs9380122</ul>									<li>rs9380122</li><li>rs3749971</li>	2
Q9UGI6	3782	<ul><li>Missing at 81-85</ul>										2
Q9UGI8	26136	<ul><li>A->V at 221: in dbSNP:rs2272193</ul>									rs2272193	2
Q9UGI9	53632	<ul><li>P->A at 71: in dbSNP:rs692243<li>L->V at 153: in dbSNP:rs35050588<li>R->W at 340: in dbSNP:rs33985460</ul>									<li>rs692243</li><li>rs33985460</li><li>rs35050588</li>	2
Q9UGJ0	51422	<ul><li>M->L at 6: in dbSNP:rs3207363<li>R->Q at 302: in WPWS and CHMWPWS, MIM: 194200<li>R->RL at 350: in CHMWPWS; severe, MIM: 194200<li>H->R at 383: in CHMWPWS; severe, MIM: 600858<li>T->N at 400: in CHMWPWS; severe: in dbSNP rsrs28938173, MIM: 600858<li>N->I at 488: in CHMWPWS; severe, MIM: 600858<li>R->G at 531: in WPWS; absence of cardiac hypertrophy; onset in childhood, MIM: 194200<li>R->Q at 531: in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit, MIM: 261740</ul>	phosphorylation	GO:0016310	binding	GO:0005488			O24006	<li>Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]</li><li>Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]</li><li>Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CHMWPWS) [MIM:600858]</li>	<li>rs3207363</li><li>rs28938173</li>	2
Q9UGK8	26297	<ul><li>K->E at 429: in dbSNP:rs1528<li>G->E at 457: in dbSNP:rs10788</ul>									<li>rs10788</li><li>rs1528</li>	2
Q9UGL9	54544	<ul><li>C->Y at 96: in dbSNP:rs16834168</ul>									rs16834168	2
Q9UGM1	55584	<ul><li>R->Q at 96: in dbSNP:rs10024518<li>S->N at 442: in dbSNP:rs10009228</ul>									<li>rs10009228</li><li>rs10024518</li>	2
Q9UGM3	1755	<ul><li>P->T at 42: in dbSNP:rs11523871<li>S->W at 52<li>S->L at 54: in dbSNP:rs3013236<li>V->A at 60<li>P->L at 65<li>N->D at 322: in dbSNP:rs1969620<li>Q->L at 337<li>P->S at 357<li>R->G at 364<li>Q->H at 420: in glioma of the brain; glioblastoma multiforme; somatic mutation, MIM: 137800<li>G->V at 607: in glioma of the brain; pilocytic astrocytoma, MIM: 137800<li>T->M at 649, MIM: 137800<li>R->W at 656, MIM: 137800<li>R->C at 670: in dbSNP:rs2277237, MIM: 137800<li>T->M at 719: in dbSNP:rs2277238, MIM: 137800<li>T->M at 780, MIM: 137800<li>P->S at 856: in dbSNP:rs2277240, MIM: 137800<li>H->Y at 1084: in dbSNP:rs2277244, MIM: 137800<li>M->T at 1169: in dbSNP:rs3758437, MIM: 137800<li>R->W at 1176, MIM: 137800<li>V->M at 1545, MIM: 137800<li>H->S at 1732: requires 2 nucleotide substitutions, MIM: 137800<li>R->L at 1860: in dbSNP:rs7099177, MIM: 137800<li>T->P at 1961, MIM: 137800</ul>								Glioma of the brain [MIM:137800]	<li>rs3758437</li><li>rs2277240</li><li>rs1969620</li><li>rs2277237</li><li>rs11523871</li><li>rs7099177</li><li>rs2277238</li><li>rs2277244</li><li>rs3013236</li>	2
Q9UGM5	26998	<ul><li>S->P at 33: in dbSNP:rs34522046<li>G->S at 202: in dbSNP:rs6785067<li>K->R at 360: in dbSNP:rs7999</ul>									<li>rs6785067</li><li>rs34522046</li><li>rs7999</li>	2
Q9UGM6	10352	<ul><li>G->S at 50: in dbSNP:rs11552864<li>A->P at 267: in dbSNP:rs3790549<li>L->P at 360: in dbSNP:rs17023101</ul>									<li>rs17023101</li><li>rs11552864</li><li>rs3790549</li>	2
Q9UGN4	11314	<ul><li>R->Q at 111: in dbSNP:rs2272111</ul>									rs2272111	2
Q9UGN5	10038	<ul><li>S->N at 161: in dbSNP:rs3093905<li>N->S at 168: in dbSNP:rs3093906<li>D->G at 235: in dbSNP:rs3093921<li>I->V at 285: in dbSNP:rs3093925<li>R->Q at 296: in dbSNP:rs3093926<li>I->T at 331: in dbSNP:rs2275010</ul>									<li>rs3093921</li><li>rs3093905</li><li>rs3093906</li><li>rs2275010</li><li>rs3093925</li><li>rs3093926</li>	2
Q9UGP4	8994	<ul><li>G->D at 36: in dbSNP:rs2578662<li>G->R at 415: in dbSNP:rs3733113</ul>									<li>rs2578662</li><li>rs3733113</li>	2
Q9UGP5	27343	<ul><li>T->P at 221: in dbSNP:rs3730463<li>R->W at 438: in dbSNP:rs3730477</ul>									<li>rs3730477</li><li>rs3730463</li>	2
Q9UGP8	11231	<ul><li>Missing  at 568: in PCLD</ul>										2
Q9UGQ3	11182	<ul><li>T->M at 500: in dbSNP:rs3094378</ul>									rs3094378	2
Q9UGT4	56241	<ul><li>R->Q at 59: in dbSNP:rs17842275<li>S->T at 110: in dbSNP:rs9680526<li>N->S at 466: in dbSNP:rs8141797</ul>									<li>rs17842275</li><li>rs8141797</li><li>rs9680526</li>	2
Q9UGU0	6942	<ul><li>M->V at 405: in dbSNP:rs34030679<li>T->N at 485: in dbSNP:rs6002656<li>S->G at 722: in dbSNP:rs5758651<li>M->I at 1165: in dbSNP:rs17002890<li>S->N at 1325: in dbSNP:rs17002888<li>Y->C at 1910: in dbSNP:rs17002865</ul>									<li>rs34030679</li><li>rs17002888</li><li>rs17002865</li><li>rs6002656</li><li>rs17002890</li><li>rs5758651</li>	2
Q9UGU5	10042	<ul><li>G->V at 165: in dbSNP:rs1053593</ul>									rs1053593	2
Q9UH17	9582	<ul><li>K->E at 62: in dbSNP:rs2076109<li>P->L at 98: in dbSNP:rs2076110<li>S->A at 109: in dbSNP:rs17000697<li>T->K at 146: in dbSNP:rs5995649<li>R->H at 351: in dbSNP:rs1053813</ul>									<li>rs17000697</li><li>rs1053813</li><li>rs2076109</li><li>rs5995649</li><li>rs2076110</li>	2
Q9UH36	402055	<ul><li>Missing at 44-50<li>A->T at 99: in dbSNP:rs4820682</ul>									rs4820682	2
Q9UH65	23075	<ul><li>Q->E at 505: in dbSNP:rs415895</ul>									rs415895	2
Q9UH90	51725	<ul><li>V->A at 87: in dbSNP:rs4676684</ul>									rs4676684	2
Q9UH92	6945	<ul><li>Q->R at 223: in dbSNP:rs665268</ul>									rs665268	2
Q9UH99	25777	<ul><li>T->A at 33: in dbSNP:rs2072799<li>L->R at 89: in dbSNP:rs35496634<li>R->C at 348: in dbSNP:rs138708<li>G->S at 671: in dbSNP:rs2072797</ul>									<li>rs2072797</li><li>rs138708</li><li>rs35496634</li><li>rs2072799</li>	2
Q9UHA7	27179	<ul><li>Q->R at 12: in dbSNP:rs895497<li>I->T at 63: in dbSNP:rs28938798<li>G->R at 134: in dbSNP:rs28947175</ul>									<li>rs895497</li><li>rs28947175</li><li>rs28938798</li>	2
Q9UHB4	27158	<ul><li>V->I at 522: in allele NDOR1*1; shows a decrease in affinity for NADPH and a reduction in ferricyanide reductase activity</ul>										2
Q9UHB7	27125	<ul><li>T->P at 136: in dbSNP:rs34527550</ul>									rs34527550	2
Q9UHC1	27030	<ul><li>Q->E at 24: in HNPCC7; dbSNP:rs28937870, MIM: 604395<li>R->G at 93: in dbSNP:rs28756978, MIM: 604395<li>F->S at 120: in dbSNP:rs28756979, MIM: 604395<li>K->Q at 231: in dbSNP:rs28756981, MIM: 604395<li>V->I at 420: in dbSNP:rs28756982, MIM: 604395<li>L->V at 492: in dbSNP:rs28756983, MIM: 604395<li>H->R at 494, MIM: 604395<li>N->S at 499: in HNPCC7; dbSNP:rs28937871, MIM: 604395<li>R->Q at 600: in dbSNP:rs28756984, MIM: 604395<li>T->P at 606: in dbSNP:rs28756985, MIM: 604395<li>E->Q at 624: in HNPCC7; dbSNP:rs28756986, MIM: 604395<li>R->C at 647: in HNPCC7; dbSNP:rs28756987, MIM: 604395<li>Y->C at 720: in dbSNP:rs28756988, MIM: 604395<li>V->I at 723: in dbSNP:rs28756989, MIM: 604395<li>V->F at 741: in dbSNP:rs28756990, MIM: 604395<li>R->H at 797: in dbSNP:rs28756991, MIM: 604395<li>S->G at 817: in HNPCC7, MIM: 604395<li>D->N at 826: in dbSNP:rs175081, MIM: 604395<li>P->L at 844: in dbSNP:rs175080, MIM: 604395<li>S->G at 845: in dbSNP:rs28756992, MIM: 604395<li>T->I at 942: in dbSNP:rs17102999, MIM: 604395<li>S->P at 966: in dbSNP:rs17782839, MIM: 604395<li>G->S at 981: in HNPCC7, MIM: 604395<li>N->S at 1007: in HNPCC7, MIM: 604395<li>D->N at 1073: in dbSNP:rs28756993, MIM: 604395<li>D->E at 1105: in dbSNP:rs28757008, MIM: 604395<li>G->D at 1163: in dbSNP:rs28757011, MIM: 604395<li>G->R at 1319: in dbSNP rsrs28757040, MIM: 604395<li>A->T at 1394: in HNPCC7, MIM: 604395<li>E->K at 1451: in HNPCC7: in dbSNP rsrs28939071, MIM: 604395</ul>								Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:604395]	<li>rs28756990</li><li>rs17782839</li><li>rs28757040</li><li>rs28756988</li><li>rs28756989</li><li>rs28756986</li><li>rs28756987</li><li>rs28756984</li><li>rs28756985</li><li>rs28756982</li><li>rs28756983</li><li>rs28756993</li><li>rs175080</li><li>rs28756992</li><li>rs28756981</li><li>rs28756991</li><li>rs175081</li><li>rs28757011</li><li>rs28937871</li><li>rs28937870</li><li>rs17102999</li><li>rs28939071</li><li>rs28756978</li><li>rs28756979</li><li>rs28757008</li>	2
Q9UHC3	9311	<ul><li>N->S at 228: in dbSNP:rs1864545</ul>									rs1864545	2
Q9UHC6	26047	<ul><li>R->Q at 114<li>T->M at 218<li>L->M at 226<li>R->C at 283<li>S->N at 382<li>N->S at 407<li>N->D at 418<li>E->K at 680<li>P->Q at 699<li>Y->C at 716<li>G->S at 731<li>G->D at 779<li>I->T at 869: associated with susceptibility to autism<li>R->H at 906<li>D->N at 1038<li>V->A at 1102<li>S->G at 1114<li>R->H at 1119<li>D->H at 1129<li>A->T at 1227<li>I->T at 1253<li>T->I at 1278</ul>										2
Q9UHC7	23608	<ul><li>V->L at 243: in dbSNP:rs2272095</ul>									rs2272095	2
Q9UHC9	29881	<ul><li>V->L at 55: non-response to ezetimibe treatment<li>I->N at 1233: non-response to ezetimibe treatment: in dbSNP rsrs52815063</ul>									rs52815063	2
Q9UHD0	29949	<ul><li>F->S at 175: in dbSNP:rs2243191</ul>									rs2243191	2
Q9UHD1	26973	<ul><li>A->D at 329: in dbSNP:rs1045861</ul>									rs1045861	2
Q9UHD2	29110	<ul><li>R->Q at 271: in dbSNP rsrs56196591<li>K->E at 291: in dbSNP rsrs34774243<li>D->H at 296: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>N->D at 388: in dbSNP:rs17857028<li>G->R at 410: in a colorectal adenocarcinoma sample; somatic mutation<li>V->A at 464: in dbSNP rsrs35635889<li>K->Q at 570: in dbSNP:rs17853341</ul>									<li>rs17857028</li><li>rs34774243</li><li>rs35635889</li><li>rs17853341</li><li>rs56196591</li>	2
Q9UHD8	10801	<ul><li>R->C at 76<li>R->W at 106: in HNA, MIM: 162100<li>S->F at 111: in HNA, MIM: 162100<li>P->L at 145, MIM: 162100<li>M->V at 576, MIM: 162100</ul>								Hereditary neuralgic amyotrophy (HNA) [MIM:162100]		2
Q9UHD9	29978	<ul><li>L->H at 235: in dbSNP:rs17002693</ul>									rs17002693	2
Q9UHE5	9027	<ul><li>E->K at 104: in dbSNP:rs13424561<li>F->S at 143: in dbSNP:rs13538</ul>									<li>rs13538</li><li>rs13424561</li>	2
Q9UHE8	26872	<ul><li>H->Q at 47: in dbSNP:rs4015375<li>F->L at 169: in dbSNP:rs2888782</ul>									<li>rs2888782</li><li>rs4015375</li>	2
Q9UHF1	51162	<ul><li>V->I at 153: in dbSNP:rs2297538<li>P->S at 183: in dbSNP:rs35863900<li>A->G at 186: in dbSNP:rs34142075</ul>									<li>rs35863900</li><li>rs2297538</li><li>rs34142075</li>	2
Q9UHF4	53832	<ul><li>V->I at 259: in dbSNP:rs1555498<li>L->F at 382: in dbSNP:rs1342642</ul>									<li>rs1555498</li><li>rs1342642</li>	2
Q9UHF7	7227	<ul><li>S->L at 654: in dbSNP:rs7002384<li>V->D at 894: in TRPS3; in heterozygous status has a milder effect causing TRPS1, MIM: 190351<li>T->P at 901: in TRPS3; severe, MIM: 190351<li>R->P at 908: in TRPS3; severe, MIM: 190351<li>R->Q at 908: in TRPS3, MIM: 190351<li>A->T at 919: in TRPS3, MIM: 190351<li>R->C at 952: in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency, MIM: 190350<li>R->H at 952: in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency, MIM: 190350</ul>	transport	GO:0006810			nucleus	GO:0005634	Q9UHF7	<li>Tricho-rhino-phalangeal syndrome type III (TRPS3) [MIM:190351]</li><li>Tricho-rhino-phalangeal syndrome type I (TRPS1) [MIM:190350]</li>	rs7002384	2
Q9UHG0	51473	<ul><li>P->A at 152: in dbSNP:rs33914824<li>S->G at 221: in dbSNP:rs2274305<li>K->N at 456: in dbSNP:rs9460973</ul>									<li>rs33914824</li><li>rs9460973</li><li>rs2274305</li>	2
Q9UHG2	27344	<ul><li>A->T at 31: in dbSNP:rs11538176</ul>									rs11538176	2
Q9UHG3	51449	<ul><li>S->F at 149: in dbSNP:rs2706762<li>T->S at 414: in dbSNP:rs17005441<li>S->G at 465: in dbSNP:rs34041544</ul>									<li>rs17005441</li><li>rs34041544</li><li>rs2706762</li>	2
Q9UHI7	9963	<ul><li>I->V at 218: in dbSNP:rs34521685<li>M->V at 258: in dbSNP:rs35817838<li>V->M at 264: in dbSNP:rs33972313</ul>									<li>rs33972313</li><li>rs34521685</li><li>rs35817838</li>	2
Q9UHI8	9510	<ul><li>A->P at 227: in dbSNP:rs428785</ul>									rs428785	2
Q9UHJ6	23729	<ul><li>E->K at 215: in dbSNP:rs150857<li>E->D at 421: in dbSNP:rs224496<li>L->M at 434: in dbSNP:rs36125540</ul>									<li>rs224496</li><li>rs36125540</li><li>rs150857</li>	2
Q9UHK0	26747	<ul><li>S->R at 36: in dbSNP:rs1140993</ul>									rs1140993	2
Q9UHK6		<ul><li>V->M at 9<li>S->P at 52: in AMACRD and CBAS4; inactive enzyme, MIM: 214950<li>L->P at 107: in CBAS4; inactive enzyme, MIM: 214950<li>G->D at 175, MIM: 214950<li>S->L at 201, MIM: 214950<li>K->E at 277, MIM: 214950</ul>								<li>Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:604489]</li><li>Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]</li>		2
Q9UHL4	29952	<ul><li>A->G at 89: in dbSNP:rs10747049</ul>									rs10747049	2
Q9UHL9	9569	<ul><li>M->V at 652: in dbSNP:rs2301895</ul>									rs2301895	2
Q9UHM6	94233	<ul><li>P->L at 10: in dbSNP:rs2675703<li>T->I at 394: in dbSNP:rs1079610<li>G->D at 444: in dbSNP:rs12262894</ul>									<li>rs2675703</li><li>rs1079610</li><li>rs12262894</li>	2
Q9UHN1	11232	<ul><li>A->T at 169: in dbSNP:rs1427463<li>G->A at 416: in dbSNP:rs17850455<li>G->E at 451: in PEOA4; affects stimulation of the catalytic subunit, MIM: 610131</ul>								Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]	<li>rs1427463</li><li>rs17850455</li>	2
Q9UHN6	23670	<ul><li>R->K at 245: in dbSNP:rs25688<li>R->H at 291: in dbSNP:rs25689<li>D->E at 423: in dbSNP:rs25695<li>P->S at 765: in dbSNP:rs25692<li>I->V at 1010: in dbSNP:rs17057133<li>S->N at 1254: in dbSNP:rs2297089<li>G->D at 1280: in dbSNP:rs17475375</ul>									<li>rs25689</li><li>rs25695</li><li>rs25688</li><li>rs2297089</li><li>rs17475375</li><li>rs25692</li><li>rs17057133</li>	2
Q9UHP6	27156	<ul><li>T->M at 42: in dbSNP:rs35211242</ul>									rs35211242	2
Q9UHP7	29121	<ul><li>N->K at 19: in dbSNP:rs16914640<li>L->V at 23: in dbSNP:rs3764022</ul>									<li>rs16914640</li><li>rs3764022</li>	2
Q9UHQ9	51706	<ul><li>N->S at 44: in dbSNP:rs2232842</ul>									rs2232842	2
Q9UHR4	55971	<ul><li>S->T at 460: in dbSNP:rs2269966</ul>									rs2269966	2
Q9UHR6	741	<ul><li>A->P at 59: in a breast cancer sample; somatic mutation<li>E->K at 155: in dbSNP:rs11556920<li>A->V at 176: in dbSNP:rs35983251</ul>									<li>rs35983251</li><li>rs11556920</li>	2
Q9UHV2	29950	<ul><li>T->A at 31: in dbSNP:rs268687</ul>									rs268687	2
Q9UHW5	51184	<ul><li>A->V at 52: in dbSNP:rs17856906<li>V->A at 244: in dbSNP:rs17850320</ul>									<li>rs17850320</li><li>rs17856906</li>	2
Q9UHW9	9990	<ul><li>F->S at 415: in dbSNP:rs2705339</ul>									rs2705339	2
Q9UHX3	30817	<ul><li>T->I at 605: in dbSNP:rs4410209<li>L->F at 614: in dbSNP:rs2524383<li>S->F at 665: in dbSNP:rs3752187</ul>									<li>rs3752187</li><li>rs2524383</li><li>rs4410209</li>	2
Q9UHY1	29959	<ul><li>V->I at 365: in dbSNP rsrs56004639<li>P->L at 432: in an ovarian mucinous carcinoma sample; somatic mutation<li>H->R at 460: in dbSNP rsrs34260196</ul>									<li>rs34260196</li><li>rs56004639</li>	2
Q9UHY8	9637	<ul><li>P->L at 50: in dbSNP:rs1544655<li>R->C at 329: in dbSNP:rs848642</ul>									<li>rs848642</li><li>rs1544655</li>	2
Q9UI08	51466	<ul><li>P->L at 188: in a colorectal cancer sample; somatic mutation<li>P->L at 247: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UI10	8890	<ul><li>A->V at 93: in dbSNP:rs34155621<li>A->V at 228: in VWM, MIM: 603896<li>R->G at 306, MIM: 603896<li>R->Q at 357: in VWM, MIM: 603896<li>R->C at 374: in VWM, MIM: 603896<li>C->R at 465: in ovarioleukodystrophy, MIM: 603896<li>Y->H at 489: in ovarioleukodystrophy, MIM: 603896</ul>								<li>Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]</li><li>Ovarioleukodystrophy [MIM:603896]</li>	rs34155621	2
Q9UI17	29958	<ul><li>H->R at 109: in DMGDHD, MIM: 605850<li>S->P at 279: in dbSNP:rs532964, MIM: 605850<li>G->A at 530: in dbSNP:rs1805073, MIM: 605850<li>P->S at 646: in dbSNP:rs1805074, MIM: 605850</ul>								DMGDH deficiency (DMGDHD) [MIM:605850]	<li>rs1805073</li><li>rs1805074</li><li>rs532964</li>	2
Q9UI26	51194	<ul><li>N->D at 260: in dbSNP:rs35107530<li>I->V at 937: in dbSNP:rs11544795</ul>									<li>rs11544795</li><li>rs35107530</li>	2
Q9UI32	27165	<ul><li>L->P at 581: in dbSNP:rs2657879</ul>									rs2657879	2
Q9UI33	11280	<ul><li>G->E at 481: in dbSNP:rs13059805<li>M->R at 777: in dbSNP:rs4302324<li>V->I at 909: in dbSNP:rs33985936<li>Y->H at 1198: in dbSNP:rs12638601</ul>									<li>rs4302324</li><li>rs13059805</li><li>rs12638601</li><li>rs33985936</li>	2
Q9UI38	29122	<ul><li>Q->P at 75: in dbSNP:rs34788938<li>V->I at 98: in dbSNP:rs35866901</ul>									<li>rs35866901</li><li>rs34788938</li>	2
Q9UI42	51200	<ul><li>L->F at 27: in dbSNP:rs34587586<li>P->T at 157: in dbSNP:rs3735051<li>R->L at 183: in dbSNP:rs3735053<li>G->C at 303: in dbSNP:rs2171492</ul>									<li>rs3735053</li><li>rs2171492</li><li>rs3735051</li><li>rs34587586</li>	2
Q9UI46	27019	<ul><li>A->S at 8: in dbSNP:rs11547035<li>A->V at 60: in dbSNP:rs16931549<li>Q->H at 326: in dbSNP:rs16931555<li>V->I at 335: in dbSNP:rs11793196<li>V->G at 487: in dbSNP:rs11999454<li>G->S at 515: in KTGS: in dbSNP rsrs28939369, MIM: 244400</ul>								Kartagener syndrome (KTGS) [MIM:244400]	<li>rs28939369</li><li>rs11547035</li><li>rs16931555</li><li>rs16931549</li><li>rs11999454</li><li>rs11793196</li>	2
Q9UI47	29119	<ul><li>S->N at 596: in dbSNP:rs4548513</ul>									rs4548513	2
Q9UIA0	27128	<ul><li>M->V at 74: in dbSNP:rs16998061</ul>									rs16998061	2
Q9UIA9	23039	<ul><li>E->D at 398: in dbSNP:rs17856894<li>C->Y at 835: in dbSNP:rs17856895</ul>									<li>rs17856895</li><li>rs17856894</li>	2
Q9UIE0	7773	<ul><li>S->C at 310: in dbSNP:rs1060877<li>F->Y at 434: in dbSNP:rs6413542<li>D->E at 441: in dbSNP:rs12753</ul>									<li>rs1060877</li><li>rs12753</li><li>rs6413542</li>	2
Q9UIF3	27285	<ul><li>R->C at 46: in dbSNP:rs12043423<li>I->T at 114: in dbSNP:rs419653</ul>									<li>rs12043423</li><li>rs419653</li>	2
Q9UIF7	4595	<ul><li>V->M at 22: in dbSNP:rs3219484<li>Y->H at 125: in MYH polyposis<li>W->R at 128: in autosomal recessive colorectal adenomatous polyposis, MIM: 608456<li>Y->C at 176: in autosomal recessive colorectal adenomatous polyposis: in dbSNP rsrs34612342, MIM: 608456<li>R->H at 179: in MYH polyposis, MIM: 608456<li>R->W at 238: in MYH polyposis: in dbSNP rsrs34126013, MIM: 608456<li>Q->H at 335: in dbSNP:rs3219489, MIM: 608456<li>A->V at 370: in dbSNP:rs35352891, MIM: 608456<li>G->D at 393: in autosomal recessive colorectal adenomatous polyposis: in dbSNP rsrs36053993, MIM: 608456<li>P->S at 402: in gastric cancer; sporadic, MIM: 137215<li>Q->R at 411: in gastric cancer; sporadic, MIM: 137215<li>G->E at 500: in dbSNP:rs3219494, MIM: 137215<li>S->F at 512, MIM: 137215<li>L->M at 526: in dbSNP:rs3219496, MIM: 137215<li>R->Q at 531: in dbSNP:rs3219497, MIM: 137215</ul>							Q9UIF7	<li>Autosomal recessive colorectal adenomatous polyposis [MIM:608456]</li><li>Gastric cancer [MIM:137215]</li>	<li>rs34126013</li><li>rs3219496</li><li>rs3219497</li><li>rs36053993</li><li>rs3219489</li><li>rs3219484</li><li>rs35352891</li><li>rs34612342</li><li>rs3219494</li>	2
Q9UIG4	170680	<ul><li>G->D at 25: in dbSNP:rs2233950<li>P->L at 84</ul>									rs2233950	2
Q9UIG5	170679	<ul><li>P->T at 24: in dbSNP:rs1265097<li>E->K at 34: in dbSNP:rs1265096<li>E->Q at 34<li>R->H at 37: in dbSNP:rs9263726<li>P->S at 43: in dbSNP:rs9501057<li>S->C at 66: in dbSNP:rs2233943<li>P->L at 133: in dbSNP:rs1063646</ul>									<li>rs9263726</li><li>rs1063646</li><li>rs2233943</li><li>rs1265097</li><li>rs1265096</li><li>rs9501057</li>	2
Q9UII6	51207	<ul><li>Y->C at 156: in dbSNP:rs3088142</ul>									rs3088142	2
Q9UIJ5	51201	<ul><li>S->F at 306: in hepatocellular carcinoma; somatic mutation<li>M->I at 356: in colorectal cancer; somatic mutation</ul>										2
Q9UIK4	23604	<ul><li>R->W at 60: in dbSNP rsrs56047843<li>R->W at 271: in dbSNP rsrs34270163</ul>									<li>rs34270163</li><li>rs56047843</li>	2
Q9UIL4	3834	<ul><li>T->P at 229: in dbSNP:rs12197062<li>A->T at 255: in dbSNP:rs2073634</ul>									<li>rs12197062</li><li>rs2073634</li>	2
Q9UIQ6	4012	<ul><li>S->P at 86: in dbSNP:rs3797799<li>N->I at 594: in dbSNP:rs12520455<li>A->T at 763: in dbSNP:rs2303138<li>S->T at 913: in dbSNP:rs17087233<li>I->V at 963: in dbSNP:rs11746232</ul>									<li>rs2303138</li><li>rs12520455</li><li>rs11746232</li><li>rs17087233</li><li>rs3797799</li>	2
Q9UIR0	56244	<ul><li>W->R at 94: in dbSNP:rs28362682<li>V->M at 188: in dbSNP:rs9461742<li>K->E at 196: in dbSNP:rs2076523<li>D->V at 283: in dbSNP:rs34423804<li>S->L at 334: in dbSNP:rs28362679<li>A->T at 352: in dbSNP:rs35037492<li>S->G at 360: in dbSNP:rs2076530<li>P->L at 379: in dbSNP:rs28362678<li>M->I at 380: in dbSNP:rs28362677<li>P->Q at 393: in dbSNP:rs41521946</ul>									<li>rs9461742</li><li>rs41521946</li><li>rs2076530</li><li>rs28362679</li><li>rs34423804</li><li>rs35037492</li><li>rs28362682</li><li>rs28362678</li><li>rs28362677</li><li>rs2076523</li>	2
Q9UIS9	4152	<ul><li>P->A at 401: in dbSNP:rs125555</ul>									rs125555	2
Q9UIU6		<ul><li>E->Q at 2: in a breast cancer sample; somatic mutation<li>G->D at 425: in a breast cancer sample; somatic mutation<li>D->E at 759: in a breast cancer sample; somatic mutation</ul>										2
Q9UIV8	5275	<ul><li>G->S at 293: in dbSNP:rs1020694</ul>									rs1020694	2
Q9UIW0	25806	<ul><li>P->R at 254: in dbSNP:rs2234500</ul>									rs2234500	2
Q9UIX4	3755	<ul><li>I->M at 304: in dbSNP:rs17791052</ul>									rs17791052	2
Q9UJ04	23270	<ul><li>R->L at 30: in dbSNP:rs2232470</ul>									rs2232470	2
Q9UJ70	55577	<ul><li>W->R at 38: in dbSNP:rs17856147<li>A->V at 60: in dbSNP:rs17849984</ul>									<li>rs17856147</li><li>rs17849984</li>	2
Q9UJ72	11199	<ul><li>M->L at 71: in dbSNP:rs6836994</ul>									rs6836994	2
Q9UJ78	9205	<ul><li>I->V at 125: in dbSNP:rs9579718<li>C->F at 137: in dbSNP:rs9579717</ul>									<li>rs9579718</li><li>rs9579717</li>	2
Q9UJ90	23630	<ul><li>P->S at 33: in dbSNP:rs17003955<li>E->Q at 114: in dbSNP:rs41312935</ul>									<li>rs17003955</li><li>rs41312935</li>	2
Q9UJA3	84515	<ul><li>Q->K at 63: in dbSNP:rs236110<li>K->N at 101: in dbSNP:rs6117014<li>N->S at 183: in dbSNP:rs16991591<li>E->K at 341: in dbSNP:rs16991615<li>S->N at 365: in dbSNP:rs28403619<li>N->S at 785: in dbSNP:rs16991638</ul>									<li>rs16991638</li><li>rs16991615</li><li>rs28403619</li><li>rs16991591</li><li>rs6117014</li><li>rs236110</li>	2
Q9UJA5	51605	<ul><li>E->K at 293: in dbSNP:rs6139876<li>E->G at 299: in dbSNP:rs451571<li>P->L at 333: in dbSNP:rs35203742</ul>									<li>rs451571</li><li>rs35203742</li><li>rs6139876</li>	2
Q9UJA9	59084	<ul><li>L->I at 6: in dbSNP:rs3806995<li>R->P at 39: in dbSNP:rs34109856<li>I->V at 69: in dbSNP:rs34432940<li>I->V at 171: in dbSNP:rs6926570<li>Y->C at 283: in dbSNP:rs16874326</ul>									<li>rs34109856</li><li>rs6926570</li><li>rs16874326</li><li>rs34432940</li><li>rs3806995</li>	2
Q9UJC3	51361	<ul><li>S->L at 433: in a breast cancer sample; somatic mutation</ul>										2
Q9UJF2	9462	<ul><li>R->W at 165: in a colorectal cancer sample; somatic mutation<li>E->D at 379: in a breast cancer sample; somatic mutation</ul>										2
Q9UJG1	56180	<ul><li>V->I at 63: in a breast cancer sample; somatic mutation</ul>										2
Q9UJJ7	113000	<ul><li>E->Q at 124: in dbSNP:rs2272898<li>L->P at 247: in dbSNP:rs3751672</ul>									<li>rs3751672</li><li>rs2272898</li>	2
Q9UJL9	65243	<ul><li>C->Y at 13: in dbSNP:rs2272994<li>G->R at 257: in dbSNP:rs12407929</ul>									<li>rs12407929</li><li>rs2272994</li>	2
Q9UJM3	54206	<ul><li>I->L at 158: in dbSNP:rs34974993</ul>									rs34974993	2
Q9UJN7	346157	<ul><li>K->R at 51: in dbSNP:rs10807020<li>G->C at 59: in dbSNP:rs10807021</ul>									<li>rs10807021</li><li>rs10807020</li>	2
Q9UJQ1	24141	<ul><li>D->G at 12: in dbSNP:rs2232259<li>I->V at 81: in dbSNP:rs2232263<li>Q->E at 103: in dbSNP:rs2232264<li>S->G at 158: in dbSNP:rs2232266</ul>									<li>rs2232266</li><li>rs2232264</li><li>rs2232259</li><li>rs2232263</li>	2
Q9UJQ4	57167	<ul><li>L->R at 507: in dbSNP:rs6126344<li>I->L at 798: in dbSNP:rs6091375<li>H->R at 888: in DRRS, MIM: 607323</ul>								Duane-radial ray syndrome (DRRS) [MIM:607323]	<li>rs6091375</li><li>rs6126344</li>	2
Q9UJQ7	140856	<ul><li>P->S at 99: in dbSNP:rs1053839</ul>									rs1053839	2
Q9UJS0	10165	<ul><li>E->K at 141: in dbSNP:rs1131697<li>L->I at 232: in dbSNP:rs10255762<li>E->K at 601: in NICCD, MIM: 605814</ul>								Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]	<li>rs1131697</li><li>rs10255762</li>	2
Q9UJT1	51174	<ul><li>M->T at 76: in dbSNP:rs1292053</ul>									rs1292053	2
Q9UJT2	60385	<ul><li>G->R at 19: in a colorectal cancer sample; somatic mutation<li>E->K at 167: in dbSNP:rs34701020<li>D->G at 382: in dbSNP:rs2304202</ul>									<li>rs34701020</li><li>rs2304202</li>	2
Q9UJU2	51176	<ul><li>G->R at 113: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UJV3	11043	<ul><li>A->D at 358: in dbSNP:rs12849510</ul>									rs12849510	2
Q9UJV8	29942	<ul><li>S->G at 26: in dbSNP:rs11574153<li>E->K at 143: in dbSNP:rs7464560<li>E->A at 241: in dbSNP:rs11574151<li>K->T at 316: in a breast cancer sample; somatic mutation</ul>									<li>rs11574153</li><li>rs11574151</li><li>rs7464560</li>	2
Q9UJW0	51164	<ul><li>P->T at 95: in dbSNP:rs11550931<li>Y->C at 263: in dbSNP:rs35772018<li>F->L at 342: in dbSNP:rs11954652<li>S->N at 438: in dbSNP:rs3733923</ul>									<li>rs11954652</li><li>rs3733923</li><li>rs11550931</li><li>rs35772018</li>	2
Q9UJW2		<ul><li>T->A at 3: in dbSNP:rs16885197<li>Q->R at 22: in dbSNP:rs2297980<li>P->S at 158: in dbSNP:rs1058768<li>V->I at 413: in dbSNP:rs34011963<li>I->L at 433: in dbSNP:rs3736352</ul>									<li>rs3736352</li><li>rs1058768</li><li>rs34011963</li><li>rs2297980</li><li>rs16885197</li>	2
Q9UJW3	29947	<ul><li>R->G at 278: in dbSNP:rs7354779</ul>									rs7354779	2
Q9UJW8	7733	<ul><li>A->V at 41: in dbSNP:rs2571108<li>W->C at 89: in dbSNP:rs2253563<li>C->S at 272: in dbSNP:rs1897820</ul>									<li>rs2253563</li><li>rs2571108</li><li>rs1897820</li>	2
Q9UJX2	8697	<ul><li>P->L at 3: in dbSNP:rs2231471<li>E->Q at 72: in dbSNP:rs17228304</ul>									<li>rs2231471</li><li>rs17228304</li>	2
Q9UJX4	51433	<ul><li>Q->H at 617: in a breast cancer sample; somatic mutation</ul>										2
Q9UJX5	29945	<ul><li>I->V at 155: in a colorectal cancer sample; somatic mutation<li>R->Q at 465: in dbSNP:rs34811474<li>E->G at 800: in dbSNP:rs11550697</ul>									<li>rs34811474</li><li>rs11550697</li>	2
Q9UJY1	26353	<ul><li>G->S at 67: in a glioblastoma multiforme sample; somatic mutation<li>R->M at 78: in dbSNP rsrs55826713<li>K->E at 141: in HMN2A; strengthen interaction with HSPB1, MIM: 158590<li>K->N at 141: in HMN2A and CMT2L; strengthen interaction with HSPB1, MIM: 158590</ul>							<li>Q5S1U1</li><li>Q3T149</li><li>O13224</li><li>P15991</li><li>P04792</li><li>P42929</li><li>Q00649</li>	<li>Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]</li><li>Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]</li>	rs55826713	2
Q9UJY4	23062	<ul><li>A->P at 424: in dbSNP:rs1135045</ul>									rs1135045	2
Q9UJY5	26088	<ul><li>G->S at 239: in a breast cancer sample; somatic mutation<li>P->A at 484: in a breast cancer sample; somatic mutation</ul>										2
Q9UJZ1	30968	<ul><li>L->P at 129: in dbSNP:rs17856326</ul>									rs17856326	2
Q9UK00	51161	<ul><li>A->D at 8: in dbSNP:rs386598<li>V->A at 162: in dbSNP:rs1034405</ul>									<li>rs1034405</li><li>rs386598</li>	2
Q9UK10	7768	<ul><li>Q->R at 50: in dbSNP:rs34863330<li>T->S at 679: in dbSNP:rs16978738</ul>									<li>rs34863330</li><li>rs16978738</li>	2
Q9UK12	7673	<ul><li>K->E at 50: in dbSNP:rs11880330<li>V->F at 58: in dbSNP:rs7258517<li>G->D at 263: in dbSNP:rs8112679</ul>									<li>rs11880330</li><li>rs8112679</li><li>rs7258517</li>	2
Q9UK13	7638	<ul><li>V->M at 165: in dbSNP:rs16976937<li>I->F at 179: in dbSNP:rs454301<li>R->C at 256: in dbSNP:rs439676<li>P->A at 337: in dbSNP:rs435590<li>T->S at 519: in dbSNP:rs365745<li>R->G at 557: in dbSNP:rs366111</ul>									<li>rs16976937</li><li>rs365745</li><li>rs439676</li><li>rs366111</li><li>rs454301</li><li>rs435590</li>	2
Q9UK17	3752	<ul><li>V->M at 94: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UK22	26232	<ul><li>K->T at 118: in dbSNP:rs9614</ul>									rs9614	2
Q9UK23		<ul><li>I->T at 465: in dbSNP:rs7188856</ul>									rs7188856	2
Q9UK32	27330	<ul><li>Y->C at 140: in a lung large cell carcinoma sample; somatic mutation<li>S->T at 258: in a lung adenocarcinoma sample; somatic mutation<li>D->N at 692: in dbSNP:rs6616890</ul>									rs6616890	2
Q9UK39	25819	<ul><li>H->Y at 140: in dbSNP:rs2271777</ul>									rs2271777	2
Q9UK53	3621	<ul><li>L->R at 125: in dbSNP:rs7338333<li>A->D at 335: in HNSCC, MIM: 275355<li>C->S at 358: in HNSCC, MIM: 275355<li>N->S at 359: in HNSCC, MIM: 275355</ul>								Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]	rs7338333	2
Q9UK55	51156	<ul><li>K->R at 46: in dbSNP:rs941590<li>S->G at 61: in dbSNP:rs941591<li>G->R at 139: in dbSNP rsrs56137907<li>L->Q at 158: in dbSNP:rs2232699<li>T->S at 161: in dbSNP:rs2232700<li>R->H at 196: in dbSNP:rs2232701<li>G->S at 271: in dbSNP:rs2232708<li>Q->P at 384<li>Q->R at 384: in dbSNP:rs2232710</ul>									<li>rs2232700</li><li>rs2232710</li><li>rs941591</li><li>rs2232708</li><li>rs941590</li><li>rs2232699</li><li>rs2232701</li><li>rs56137907</li>	2
Q9UK61	23272	<ul><li>A->G at 831: in dbSNP:rs17056999<li>V->I at 998: in dbSNP:rs2291498<li>T->R at 1046: in dbSNP:rs9835332<li>I->V at 1435: in dbSNP:rs2291498</ul>									<li>rs9835332</li><li>rs2291498</li><li>rs17056999</li>	2
Q9UK80	27005	<ul><li>P->S at 91: in dbSNP:rs34779722<li>G->D at 321: in dbSNP:rs17356051<li>P->T at 336: in dbSNP:rs1127525</ul>									<li>rs1127525</li><li>rs34779722</li><li>rs17356051</li>	2
Q9UK85	27120	<ul><li>L->R at 24: in dbSNP:rs2303757<li>A->T at 29: in dbSNP:rs919364<li>L->I at 104: in dbSNP:rs35693137<li>M->R at 109: in dbSNP:rs2303759<li>G->S at 187: in dbSNP:rs1054770<li>E->K at 214: in dbSNP:rs2288481</ul>									<li>rs2288481</li><li>rs2303759</li><li>rs2303757</li><li>rs35693137</li><li>rs919364</li><li>rs1054770</li>	2
Q9UK99	26273	<ul><li>V->I at 221: in dbSNP:rs1402954</ul>									rs1402954	2
Q9UKA4	11215	<ul><li>S->C at 721: in dbSNP:rs2236364<li>H->R at 1070: in dbSNP:rs17063163<li>L->F at 1410: in dbSNP:rs17063167</ul>									<li>rs17063163</li><li>rs17063167</li><li>rs2236364</li>	2
Q9UKA8	11123	<ul><li>T->N at 236: in dbSNP:rs16829813</ul>									rs16829813	2
Q9UKB3	56521	<ul><li>M->I at 124: in dbSNP:rs35690028<li>C->W at 129: in dbSNP:rs36099123</ul>									<li>rs35690028</li><li>rs36099123</li>	2
Q9UKB5	55966	<ul><li>G->R at 263: in dbSNP:rs242056</ul>									rs242056	2
Q9UKC9	25827	<ul><li>V->M at 226: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UKE5	23043	<ul><li>K->E at 778: in dbSNP rsrs55778284<li>G->E at 910: in dbSNP rsrs35090763<li>A->T at 999: in dbSNP:rs17857452</ul>									<li>rs17857452</li><li>rs35090763</li><li>rs55778284</li>	2
Q9UKF2	11085	<ul><li>L->P at 359: in dbSNP:rs2641348</ul>									rs2641348	2
Q9UKF5	11086	<ul><li>P->L at 31: in a colorectal cancer sample; somatic mutation<li>V->I at 205: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UKF6	51692	<ul><li>E->G at 142: in dbSNP:rs17850770<li>D->N at 578: in a breast cancer sample; somatic mutation</ul>									rs17850770	2
Q9UKG1	26060	<ul><li>A->V at 108: in dbSNP:rs4381906<li>E->Q at 643: in a breast cancer sample; somatic mutation<li>E->G at 700: in dbSNP:rs11544593</ul>									<li>rs4381906</li><li>rs11544593</li>	2
Q9UKG9	54677	<ul><li>R->H at 94: in dbSNP:rs3827653<li>V->L at 474: in dbSNP:rs7785206</ul>									<li>rs3827653</li><li>rs7785206</li>	2
Q9UKI3	29802	<ul><li>R->W at 4: in dbSNP:rs34372784</ul>									rs34372784	2
Q9UKI8	9874	<ul><li>R->C at 121</ul>										2
Q9UKI9	25833	<ul><li>R->H at 152: in dbSNP:rs7110845</ul>									rs7110845	2
Q9UKK3	143	<ul><li>G->A at 1265: in dbSNP:rs1050110<li>G->R at 1280: in dbSNP:rs13428</ul>									<li>rs13428</li><li>rs1050110</li>	2
Q9UKK9	11164	<ul><li>I->T at 123: in dbSNP:rs34863826</ul>									rs34863826	2
Q9UKL3	9994	<ul><li>P->S at 1659: in dbSNP:rs3799896</ul>									rs3799896	2
Q9UKL6	58488	<ul><li>E->A at 10: in dbSNP:rs12941739</ul>									rs12941739	2
Q9UKM9	22913	<ul><li>V->M at 139: in dbSNP:rs35191085<li>Q->R at 215: in dbSNP:rs3180568<li>G->S at 251: in dbSNP:rs2281209</ul>									<li>rs3180568</li><li>rs35191085</li><li>rs2281209</li>	2
Q9UKN1		<ul><li>T->R at 4775: in dbSNP:rs11766125</ul>									rs11766125	2
Q9UKN7	51168	<ul><li>C->R at 1977: in dbSNP:rs854777<li>G->R at 2018: in dbSNP:rs2272571<li>N->Y at 2111: in DFNB3; family from Bengkala, MIM: 600316<li>I->F at 2113: in DFNB3; Indian family, MIM: 600316<li>T->I at 2205: associated with moderately severe sensorineural hearing loss , MIM: 600316<li>A->T at 2490: in dbSNP:rs16960959, MIM: 600316<li>Y->F at 2682: in dbSNP:rs712270, MIM: 600316<li>Q->H at 2716: in DFNB3, MIM: 600316</ul>	hearing	GO:0007605						Non-syndromic sensorineural deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	<li>rs712270</li><li>rs2272571</li><li>rs854777</li><li>rs16960959</li>	2
Q9UKN8	9329	<ul><li>H->R at 243: in dbSNP:rs1044697</ul>									rs1044697	2
Q9UKP4	11173	<ul><li>S->P at 214: in dbSNP:rs3825807<li>T->M at 307: in dbSNP:rs2127898<li>T->A at 1319: in dbSNP:rs11630236<li>G->S at 1414: in dbSNP:rs2929155<li>G->A at 1583: in dbSNP:rs7495616</ul>									<li>rs7495616</li><li>rs3825807</li><li>rs2929155</li><li>rs2127898</li><li>rs11630236</li>	2
Q9UKP6	2837	<ul><li>A->P at 70: in dbSNP:rs34442190<li>S->R at 146: in a breast cancer sample; somatic mutation</ul>									rs34442190	2
Q9UKQ2	10863	<ul><li>M->V at 765: in dbSNP:rs7814768</ul>									rs7814768	2
Q9UKR3	26085	<ul><li>H->Y at 109: in dbSNP:rs34089525</ul>									rs34089525	2
Q9UKR8	26526	<ul><li>Y->D at 53: in dbSNP:rs34162761<li>L->P at 55: in dbSNP:rs17001344<li>S->C at 233: in dbSNP:rs318687</ul>									<li>rs17001344</li><li>rs318687</li><li>rs34162761</li>	2
Q9UKS6	29763	<ul><li>A->V at 61: in dbSNP:rs7106654</ul>									rs7106654	2
Q9UKS7	22807	<ul><li>N->S at 93: in dbSNP:rs16849611</ul>									rs16849611	2
Q9UKT4	26271	<ul><li>Q->E at 107: in dbSNP:rs2073260<li>L->F at 164: in dbSNP:rs7763565</ul>									<li>rs2073260</li><li>rs7763565</li>	2
Q9UKT6	26223	<ul><li>F->L at 76: in dbSNP:rs7705168<li>P->L at 209: in dbSNP:rs40986</ul>									<li>rs40986</li><li>rs7705168</li>	2
Q9UKU7	27034	<ul><li>M->I at 128: in IBDD, MIM: 611283<li>D->Y at 134: in IBDD, MIM: 611283<li>G->R at 137: in IBDD; complete loss of activity, MIM: 611283<li>M->T at 152: in IBDD, MIM: 611283<li>V->I at 203: in IBDD, MIM: 611283<li>R->Q at 302: in IBDD; complete loss of activity, MIM: 611283<li>A->T at 320: in IBDD; <20% of wild-type activity, MIM: 611283<li>R->C at 334: in IBDD, MIM: 611283<li>Q->R at 385: in IBDD, MIM: 611283</ul>								Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]		2
Q9UKV3	22985	<ul><li>R->K at 257: in dbSNP:rs11555803<li>I->M at 311: in dbSNP:rs3811182<li>S->P at 467: in dbSNP:rs1885097<li>S->F at 478: in dbSNP:rs3751501<li>R->Q at 1160: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3751501</li><li>rs3811182</li><li>rs1885097</li><li>rs11555803</li>	2
Q9UKV5	267	<ul><li>D->V at 605: in a breast cancer sample; somatic mutation</ul>										2
Q9UKW4	10451	<ul><li>T->S at 298: in dbSNP:rs7528153<li>P->S at 616: in dbSNP:rs12410676<li>Q->H at 618: in dbSNP:rs12403266</ul>									<li>rs7528153</li><li>rs12403266</li><li>rs12410676</li>	2
Q9UKX2	4620	<ul><li>E->K at 706: in IBM3, MIM: 605637<li>V->I at 970: in one patient with familial myopathy; unknown pathological significance, MIM: 605637<li>L->V at 1061, MIM: 605637<li>R->Q at 1927: in dbSNP:rs34161789, MIM: 605637</ul>								Inclusion body myopathy type 3 (IBM3) [MIM:605637]	rs34161789	2
Q9UKX3	8735	<ul><li>G->R at 701: in dbSNP:rs2190729<li>M->V at 1071: in dbSNP:rs2074877<li>E->D at 1076: in dbSNP:rs2074876<li>R->Q at 1294: in dbSNP:rs17690195<li>R->H at 1862: in dbSNP:rs3744550</ul>									<li>rs2074876</li><li>rs3744550</li><li>rs2074877</li><li>rs17690195</li><li>rs2190729</li>	2
Q9UKX5	22801	<ul><li>V->M at 433: in dbSNP rsrs2306022<li>M->L at 471: in dbSNP:rs2306024<li>R->L at 524: in dbSNP rsrs7168069<li>Q->K at 891: in dbSNP:rs2271725<li>L->P at 972: in dbSNP rsrs4777035<li>I->M at 1003<li>Missing at 1030<li>L->V at 1094</ul>									<li>rs4777035</li><li>rs2306022</li><li>rs7168069</li><li>rs2306024</li><li>rs2271725</li>	2
Q9UKY0	23627	<ul><li>S->I at 6<li>S->P at 22<li>T->P at 26<li>H->R at 31<li>P->L at 56: in dbSNP rsrs35453518<li>F->L at 70<li>L->S at 149<li>T->M at 174: common polymorphism; dbSNP:rs2245220</ul>									<li>rs35453518</li><li>rs2245220</li>	2
Q9UKY4	29954	<ul><li>A->E at 54: in dbSNP:rs8177536</ul>									rs8177536	2
Q9UKZ4	10178	<ul><li>Y->H at 40: in dbSNP:rs36065191<li>L->F at 342: in a breast cancer sample; somatic mutation<li>M->T at 371: in dbSNP:rs2213591<li>M->V at 632: in dbSNP:rs16999334<li>K->E at 641: in dbSNP:rs6649271<li>V->I at 1216: in a breast cancer sample; somatic mutation<li>F->V at 1482: in a colorectal cancer sample; somatic mutation<li>Q->H at 2235: in a breast cancer sample; somatic mutation<li>L->F at 2396: in a colorectal cancer sample; somatic mutation</ul>									<li>rs2213591</li><li>rs16999334</li><li>rs6649271</li><li>rs36065191</li>	2
Q9UKZ9	26577	<ul><li>V->A at 280: in dbSNP:rs35692900<li>P->T at 292: in dbSNP:rs17554211</ul>									<li>rs35692900</li><li>rs17554211</li>	2
Q9UL01	29940	<ul><li>T->I at 25: in dbSNP:rs10485183<li>P->L at 34: in dbSNP:rs35548455<li>I->V at 282: in dbSNP:rs34994230</ul>									<li>rs10485183</li><li>rs35548455</li><li>rs34994230</li>	2
Q9UL12	1757	<ul><li>G->C at 22: in dbSNP:rs35559818<li>E->D at 372: in dbSNP:rs35218200<li>R->H at 614: in dbSNP:rs2073817<li>M->V at 648: in dbSNP:rs886016</ul>									<li>rs35559818</li><li>rs886016</li><li>rs35218200</li><li>rs2073817</li>	2
Q9UL17	30009	<ul><li>H->Q at 33: in dbSNP:rs2240017<li>I->V at 339: in dbSNP:rs12721471</ul>									<li>rs12721471</li><li>rs2240017</li>	2
Q9UL19	5920	<ul><li>V->L at 69: in dbSNP:rs35502888<li>A->V at 162: in dbSNP:rs35845275</ul>									<li>rs35845275</li><li>rs35502888</li>	2
Q9UL42	10687	<ul><li>E->K at 186: in dbSNP:rs2233701</ul>									rs2233701	2
Q9UL49	10732	<ul><li>E->D at 380: in dbSNP:rs34304654</ul>									rs34304654	2
Q9UL58	7762	<ul><li>M->V at 119: in dbSNP:rs11041108<li>M->V at 376: in dbSNP:rs2239729</ul>									<li>rs11041108</li><li>rs2239729</li>	2
Q9UL59	7761	<ul><li>L->H at 128: in dbSNP:rs1156525<li>I->R at 185: in dbSNP:rs2239734</ul>									<li>rs1156525</li><li>rs2239734</li>	2
Q9UL62	7224	<ul><li>R->H at 702: in dbSNP:rs36047478</ul>									rs36047478	2
Q9UL63	4289	<ul><li>C->G at 469: in dbSNP:rs323844</ul>									rs323844	2
Q9ULB1	9378	<ul><li>Y->N at 400: in dbSNP:rs17040901</ul>									rs17040901	2
Q9ULB4	1007	<ul><li>Y->C at 6: in dbSNP:rs2288467<li>A->V at 38: in dbSNP:rs2288466</ul>									<li>rs2288466</li><li>rs2288467</li>	2
Q9ULC3	51715	<ul><li>Missing at 13<li>K->R at 40: in dbSNP rsrs45442500<li>C->R at 85: in Carpenter syndrome, MIM: 201000<li>S->A at 101: in dbSNP rsrs45479896, MIM: 201000<li>G->S at 207: in dbSNP:rs1040461, MIM: 201000</ul>								Carpenter syndrome [MIM:201000]	<li>rs45442500</li><li>rs45479896</li><li>rs1040461</li>	2
Q9ULC4	28985	<ul><li>L->H at 106: in dbSNP:rs2233110</ul>									rs2233110	2
Q9ULC5	51703	<ul><li>M->V at 182: in dbSNP:rs3736946<li>K->R at 388: in a colorectal cancer sample; somatic mutation<li>G->D at 466: in a colorectal cancer sample; somatic mutation<li>T->A at 486: in dbSNP:rs12254915</ul>									<li>rs3736946</li><li>rs12254915</li>	2
Q9ULC6	29943	<ul><li>V->M at 649: in dbSNP:rs16824215</ul>									rs16824215	2
Q9ULD0	55753	<ul><li>P->L at 511: in dbSNP:rs17856755<li>D->N at 573: in dbSNP:rs17852386<li>S->C at 623: in dbSNP:rs34877195<li>T->M at 637: in dbSNP:rs11101224<li>N->S at 725: in dbSNP:rs2293239</ul>									<li>rs34877195</li><li>rs17856755</li><li>rs2293239</li><li>rs17852386</li><li>rs11101224</li>	2
Q9ULD2	57509	<ul><li>Q->K at 75: in HCC, MIM: 114550<li>C->R at 148: in dbSNP:rs3739407, MIM: 114550<li>T->S at 186: in HNSCC cell lines, MIM: 114550<li>T->M at 425, MIM: 114550<li>K->T at 453: in dbSNP:rs17690844, MIM: 114550<li>A->S at 563: in HCC, MIM: 114550<li>H->R at 575: in dbSNP:rs209569, MIM: 114550<li>N->H at 873: in HCC, MIM: 114550<li>K->T at 911, MIM: 114550<li>K->T at 1063: in dbSNP:rs17853231, MIM: 114550<li>E->Q at 1105, MIM: 114550<li>Q->R at 1201: in HCC, MIM: 114550</ul>							<li>Q8T115</li><li>Q9NFL6</li>	Hepatocellular carcinoma (HCC) [MIM:114550]	<li>rs3739407</li><li>rs17853231</li><li>rs17690844</li><li>rs209569</li>	2
Q9ULD4	27154	<ul><li>A->G at 278: in dbSNP:rs17658935</ul>									rs17658935	2
Q9ULD9	57507	<ul><li>N->T at 721: in dbSNP:rs6862252</ul>									rs6862252	2
Q9ULE0	55841	<ul><li>A->T at 495: in dbSNP:rs5934750<li>Y->C at 593: in dbSNP:rs36076296</ul>									<li>rs36076296</li><li>rs5934750</li>	2
Q9ULE3	27147	<ul><li>H->P at 156: in dbSNP:rs269243<li>E->K at 729: in dbSNP:rs2293177<li>I->T at 777: in dbSNP:rs6464833</ul>									<li>rs2293177</li><li>rs269243</li><li>rs6464833</li>	2
Q9ULE4		<ul><li>N->S at 952: in dbSNP:rs16895365<li>A->V at 1042: in dbSNP:rs6825562</ul>									<li>rs16895365</li><li>rs6825562</li>	2
Q9ULE6	27143	<ul><li>S->L at 141: in dbSNP:rs2275060<li>R->C at 721: in dbSNP:rs3740447</ul>									<li>rs2275060</li><li>rs3740447</li>	2
Q9ULF5	57181	<ul><li>T->S at 87: in dbSNP:rs13419724</ul>									rs13419724	2
Q9ULG1	54617	<ul><li>I->V at 882: in dbSNP:rs34153025</ul>									rs34153025	2
Q9ULG6	9236	<ul><li>S->P at 44: in dbSNP:rs11555304<li>E->V at 161: in dbSNP:rs17853336<li>Y->H at 418: in dbSNP:rs34958422<li>R->L at 436: in dbSNP:rs17857026<li>A->V at 477: in dbSNP:rs1063562<li>A->D at 517: in dbSNP:rs1063563<li>G->D at 553: in dbSNP:rs1063565<li>G->S at 553: in dbSNP:rs1063564<li>N->K at 590: in dbSNP:rs1063566<li>K->E at 627: in dbSNP:rs17853335<li>T->I at 646: in dbSNP:rs17857027<li>H->R at 673: in dbSNP:rs1063567</ul>									<li>rs17857026</li><li>rs17857027</li><li>rs1063564</li><li>rs1063565</li><li>rs1063562</li><li>rs1063563</li><li>rs34958422</li><li>rs17853335</li><li>rs1063566</li><li>rs1063567</li><li>rs17853336</li><li>rs11555304</li>	2
Q9ULH0	57498	<ul><li>I->T at 538: in dbSNP:rs2289229<li>R->H at 1307: in dbSNP:rs2304591<li>Q->H at 1608: in dbSNP:rs1044280</ul>									<li>rs1044280</li><li>rs2289229</li><li>rs2304591</li>	2
Q9ULH4	57497	<ul><li>D->N at 770: in dbSNP:rs3734559</ul>									rs3734559	2
Q9ULI1	57495	<ul><li>L->M at 569: in dbSNP:rs4634233</ul>									rs4634233	2
Q9ULI3	57493	<ul><li>Q->R at 145: in dbSNP:rs4404487<li>F->S at 602: in dbSNP:rs6790837<li>V->L at 980: in dbSNP:rs10804567<li>M->T at 1039: in dbSNP:rs6438869</ul>									<li>rs6438869</li><li>rs10804567</li><li>rs4404487</li><li>rs6790837</li>	2
Q9ULJ1	57489	<ul><li>R->H at 177: in dbSNP:rs12032435<li>K->R at 350: in dbSNP:rs17854440</ul>									<li>rs17854440</li><li>rs12032435</li>	2
Q9ULJ3	49854	<ul><li>N->S at 185: in dbSNP:rs871545<li>K->Q at 218: in dbSNP:rs871546</ul>									<li>rs871545</li><li>rs871546</li>	2
Q9ULJ6	57178	<ul><li>L->V at 551: in a breast cancer sample; somatic mutation</ul>										2
Q9ULJ8	55607	<ul><li>M->V at 331: in dbSNP:rs10230714</ul>									rs10230714	2
Q9ULK0	2894	<ul><li>V->I at 529: in dbSNP:rs2306265</ul>									rs2306265	2
Q9ULL1	57480	<ul><li>Q->R at 787: in dbSNP:rs17080381<li>V->A at 1071: in dbSNP:rs17080410<li>L->S at 1321: in dbSNP:rs17054318</ul>									<li>rs17054318</li><li>rs17080410</li><li>rs17080381</li>	2
Q9ULL4	5365	<ul><li>A->T at 126: in dbSNP:rs34360382<li>V->I at 598: in dbSNP:rs2266879<li>M->T at 1535: in dbSNP:rs5987155</ul>									<li>rs2266879</li><li>rs34360382</li><li>rs5987155</li>	2
Q9ULL8	57477	<ul><li>D->G at 970: in dbSNP:rs2281571<li>S->L at 1089: in SDSX, MIM: 300434</ul>								Stocco dos Santos X-linked mental retardation syndrome (SDSX) [MIM:300434]	rs2281571	2
Q9ULM0	57475	<ul><li>N->S at 75: in dbSNP:rs7150973<li>Q->L at 113: in dbSNP:rs3825723<li>R->Q at 322: in dbSNP:rs2236235<li>T->A at 430: in dbSNP:rs3825725<li>M->V at 438: in dbSNP:rs17104428<li>H->R at 735: in dbSNP:rs11158685</ul>									<li>rs11158685</li><li>rs7150973</li><li>rs17104428</li><li>rs3825725</li><li>rs3825723</li><li>rs2236235</li>	2
Q9ULM3	55689	<ul><li>I->V at 184: in dbSNP:rs16858033<li>V->I at 530: in dbSNP:rs262993<li>Q->H at 993: in dbSNP:rs3211095</ul>									<li>rs16858033</li><li>rs3211095</li><li>rs262993</li>	2
Q9ULQ0	57464	<ul><li>R->Q at 383: in dbSNP:rs2242030</ul>									rs2242030	2
Q9ULT0	57217	<ul><li>V->L at 538: in dbSNP:rs2304290<li>V->I at 545: in dbSNP:rs6755258</ul>									<li>rs6755258</li><li>rs2304290</li>	2
Q9ULV1	8322	<ul><li>M->V at 105: in EVR1; loss of function, MIM: 133780<li>M->V at 157: in EVR1; loss of function, MIM: 133780<li>K->T at 436: in a colorectal cancer sample; somatic mutation, MIM: 133780<li>Missing  at 493-494: in EVR1; loss of function, MIM: 133780</ul>								Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]		2
Q9ULV5	3299	<ul><li>A->D at 20: in lamellar cataract; sporadic, MIM: 116800<li>R->H at 74: in lammelar cataract, MIM: 116800<li>I->V at 87: in lamellar cataract; sporadic, MIM: 116800<li>L->P at 115: in lammelar cataract, MIM: 116800<li>R->C at 120: in lammelar cataract, MIM: 116800</ul>								Lamellar cataract [MIM:116800]		2
Q9ULV8	23624	<ul><li>H->Y at 405: in dbSNP:rs3208856</ul>									rs3208856	2
Q9ULW0	22974	<ul><li>T->N at 464: in a colorectal cancer sample; somatic mutation</ul>										2
Q9ULW8	51702	<ul><li>I->V at 52: in dbSNP:rs3750300<li>V->M at 171: in dbSNP:rs2272629<li>G->R at 509: in a breast cancer sample; somatic mutation<li>A->T at 582: in dbSNP:rs34097903<li>R->Q at 618: in dbSNP:rs35624745</ul>									<li>rs34097903</li><li>rs3750300</li><li>rs2272629</li><li>rs35624745</li>	2
Q9ULX3	28987	<ul><li>R->Q at 231: in dbSNP:rs3811348<li>Y->F at 366: in dbSNP:rs1075935</ul>									<li>rs1075935</li><li>rs3811348</li>	2
Q9UM01	9056	<ul><li>T->I at 5: in LPI, MIM: 222700<li>Missing  at 36: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700<li>M->K at 50: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700<li>S->L at 53: in LPI, MIM: 222700<li>G->V at 54: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700<li>A->V at 91: in dbSNP:rs11568438, MIM: 222700<li>L->P at 124: in LPI, MIM: 222700<li>A->P at 140: in LPI, MIM: 222700<li>F->L at 152: in LPI; moderately reduced cationic amino acid transport activity, MIM: 222700<li>R->C at 159: in dbSNP:rs11568437, MIM: 222700<li>T->I at 188: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700<li>K->E at 191: in LPI, MIM: 222700<li>S->F at 238: in LPI, MIM: 222700<li>E->D at 251: in LPI, MIM: 222700<li>L->P at 261: in LPI, MIM: 222700<li>R->M at 333: in LPI, MIM: 222700<li>L->R at 334: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700<li>G->D at 338: in LPI, MIM: 222700<li>N->Y at 365: in LPI, MIM: 222700<li>S->R at 386: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700<li>P->S at 413: in a breast cancer sample; somatic mutation, MIM: 222700<li>S->P at 489: in LPI, MIM: 222700</ul>	amino acid transport	GO:0006865						Lysinuric protein intolerance (LPI) [MIM:222700]	<li>rs11568437</li><li>rs11568438</li>	2
Q9UM07	23569	<ul><li>R->H at 8: in dbSNP:rs35381732<li>S->G at 55: in dbSNP:rs11203366<li>T->M at 79: in dbSNP:rs35809521<li>A->V at 82: in dbSNP:rs11203367<li>D->N at 89<li>P->T at 102: in dbSNP rsrs34309058<li>A->G at 112: in dbSNP:rs874881<li>R->T at 131: in dbSNP:rs12733102<li>M->T at 164: in dbSNP:rs11588132<li>D->N at 260: in dbSNP:rs35903413<li>S->F at 275: in dbSNP:rs1748020</ul>									<li>rs11203367</li><li>rs35903413</li><li>rs35381732</li><li>rs35809521</li><li>rs11588132</li><li>rs874881</li><li>rs12733102</li><li>rs34309058</li><li>rs1748020</li><li>rs11203366</li>	2
Q9UM13	10393	<ul><li>R->Q at 46: in dbSNP rsrs35257136</ul>									rs35257136	2
Q9UM44	11148	<ul><li>I->T at 30: in dbSNP:rs6779254<li>N->K at 344: in dbSNP:rs3792332<li>S->R at 364: in dbSNP:rs6779094</ul>									<li>rs6779254</li><li>rs3792332</li><li>rs6779094</li>	2
Q9UM47	4854	<ul><li>C->G at 43: in CADASIL, MIM: 125310<li>C->F at 49: in CADASIL, MIM: 125310<li>C->Y at 49: in CADASIL, MIM: 125310<li>R->C at 54: in CADASIL, MIM: 125310<li>S->C at 60: in CADASIL, MIM: 125310<li>C->S at 65: in CADASIL, MIM: 125310<li>C->Y at 67: in CADASIL, MIM: 125310<li>W->C at 71: in CADASIL: in dbSNP rsrs28937321, MIM: 125310<li>C->R at 76: in CADASIL, MIM: 125310<li>C->W at 76: in CADASIL, MIM: 125310<li>Missing  at 77-82: in CADASIL, MIM: 125310<li>Missing  at 80-84: in CADASIL, MIM: 125310<li>C->R at 87: in CADASIL, MIM: 125310<li>C->Y at 87: in CADASIL, MIM: 125310<li>R->C at 90: in CADASIL, MIM: 125310<li>C->F at 93: in CADASIL, MIM: 125310<li>C->Y at 93: in CADASIL, MIM: 125310<li>C->W at 106: in CADASIL, MIM: 125310<li>C->W at 108: in CADASIL, MIM: 125310<li>C->Y at 108: in CADASIL, MIM: 125310<li>R->C at 110: in CADASIL, MIM: 125310<li>Missing  at 114-120: in CADASIL, MIM: 125310<li>C->F at 117: in CADASIL, MIM: 125310<li>S->C at 118: in CADASIL, MIM: 125310<li>C->F at 123: in CADASIL, MIM: 125310<li>C->Y at 123: in CADASIL, MIM: 125310<li>C->Y at 128: in CADASIL, MIM: 125310<li>R->C at 133: in CADASIL, MIM: 125310<li>C->W at 134: in CADASIL, MIM: 125310<li>R->C at 141: in CADASIL, MIM: 125310<li>F->C at 142: in CADASIL, MIM: 125310<li>C->F at 144: in CADASIL, MIM: 125310<li>C->S at 144: in CADASIL, MIM: 125310<li>C->Y at 144: in CADASIL, MIM: 125310<li>S->C at 145: in CADASIL, MIM: 125310<li>C->R at 146: in CADASIL, MIM: 125310<li>G->C at 149: in CADASIL, MIM: 125310<li>Y->C at 150: in CADASIL, MIM: 125310<li>Missing  at 153-155: in CADASIL, MIM: 125310<li>R->C at 153: in CADASIL, MIM: 125310<li>C->S at 155: in CADASIL, MIM: 125310<li>C->S at 162: in CADASIL, MIM: 125310<li>R->C at 169: in CADASIL: in dbSNP rsrs28933696, MIM: 125310<li>H->R at 170, MIM: 125310<li>G->C at 171: in CADASIL, MIM: 125310<li>C->F at 174: in CADASIL, MIM: 125310<li>C->R at 174: in CADASIL, MIM: 125310<li>C->Y at 174: in CADASIL, MIM: 125310<li>S->C at 180: in CADASIL, MIM: 125310<li>R->C at 182: in CADASIL: in dbSNP rsrs28933697, MIM: 125310<li>C->F at 183: in CADASIL, MIM: 125310<li>C->R at 183: in CADASIL, MIM: 125310<li>C->S at 183: in CADASIL, MIM: 125310<li>C->G at 185: in CADASIL, MIM: 125310<li>C->R at 185: in CADASIL, MIM: 125310<li>Y->C at 189: in CADASIL, MIM: 125310<li>C->F at 194: in CADASIL, MIM: 125310<li>C->R at 194: in CADASIL, MIM: 125310<li>C->S at 194: in CADASIL, MIM: 125310<li>C->Y at 194: in CADASIL, MIM: 125310<li>C->Y at 201: in CADASIL, MIM: 125310<li>C->Y at 206: in CADASIL, MIM: 125310<li>R->C at 207: in CADASIL, MIM: 125310<li>C->S at 212: in CADASIL, MIM: 125310<li>R->K at 213: in CADASIL, MIM: 125310<li>C->G at 222: in CADASIL, MIM: 125310<li>C->Y at 222: in CADASIL, MIM: 125310<li>C->Y at 224: in CADASIL, MIM: 125310<li>C->S at 233: in CADASIL, MIM: 125310<li>C->Y at 233: in CADASIL, MIM: 125310<li>Missing  at 239-253: in CADASIL, MIM: 125310<li>C->S at 240: in CADASIL, MIM: 125310<li>C->R at 245: in CADASIL, MIM: 125310<li>C->R at 251: in CADASIL, MIM: 125310<li>Y->C at 258: in CADASIL, MIM: 125310<li>C->Y at 260: in CADASIL, MIM: 125310<li>A->C at 319: in CADASIL; requires 2 nucleotide substitutions, MIM: 125310<li>R->C at 332: in CADASIL, MIM: 125310<li>S->C at 335: in CADASIL, MIM: 125310<li>Y->C at 337: in CADASIL, MIM: 125310<li>C->S at 379: in CADASIL, MIM: 125310<li>C->R at 395: in CADASIL, MIM: 125310<li>G->C at 420: in CADASIL, MIM: 125310<li>R->C at 421: in CADASIL, MIM: 125310<li>C->S at 428: in CADASIL, MIM: 125310<li>C->Y at 428: in CADASIL, MIM: 125310<li>C->G at 440: in CADASIL, MIM: 125310<li>C->R at 440: in CADASIL, MIM: 125310<li>C->S at 446: in CADASIL, MIM: 125310<li>R->C at 449: in CADASIL, MIM: 125310<li>C->R at 455: in CADASIL: in dbSNP rsrs28933698, MIM: 125310<li>C->F at 484: in CADASIL, MIM: 125310<li>C->Y at 484: in CADASIL, MIM: 125310<li>C->Y at 495: in CADASIL, MIM: 125310<li>P->L at 496: in dbSNP:rs11670799, MIM: 125310<li>C->R at 511: in CADASIL, MIM: 125310<li>C->Y at 542: in CADASIL, MIM: 125310<li>R->C at 544: in CADASIL, MIM: 125310<li>C->Y at 549: in CADASIL, MIM: 125310<li>R->C at 558: in CADASIL, MIM: 125310<li>R->C at 578: in CADASIL, MIM: 125310<li>R->C at 607: in CADASIL, MIM: 125310<li>R->C at 728: in CADASIL, MIM: 125310<li>C->S at 775: in CADASIL, MIM: 125310<li>G->C at 953: in CADASIL, MIM: 125310<li>F->C at 984: in CADASIL, MIM: 125310<li>R->C at 985: in CADASIL, MIM: 125310<li>R->C at 1006: in CADASIL, MIM: 125310<li>C->R at 1015: in CADASIL, MIM: 125310<li>A->P at 1020: in dbSNP:rs35769976, MIM: 125310<li>Y->C at 1021: in CADASIL, MIM: 125310<li>R->C at 1031: in CADASIL, MIM: 125310<li>D->C at 1063: in CADASIL; requires 2 nucleotide substitutions, MIM: 125310<li>H->Q at 1133, MIM: 125310<li>V->M at 1183: in dbSNP:rs10408676, MIM: 125310<li>R->C at 1231: in CADASIL, MIM: 125310<li>C->R at 1261: in CADASIL, MIM: 125310<li>C->Y at 1261: in CADASIL, MIM: 125310<li>L->P at 1515: in brain small-vessel-disease; exhibits increased NOTCH3 signaling in a ligand-independent fashion, MIM: 125310<li>V->A at 2223: in dbSNP:rs1044009, MIM: 125310</ul>							Q9UM47	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	<li>rs28933696</li><li>rs1044009</li><li>rs28933698</li><li>rs28933697</li><li>rs10408676</li><li>rs28937321</li><li>rs11670799</li><li>rs35769976</li>	2
Q9UM54	4646	<ul><li>E->V at 216: in DFNB37: in dbSNP rsrs28936390, MIM: 607821<li>H->R at 246: in DFNHCM: in dbSNP rsrs28936391, MIM: 606346<li>C->Y at 442: in DFNA22, MIM: 606346</ul>								<li>Non-syndromic sensorineural deafness autosomal recessive type 37 (DFNB37) [MIM:607821]</li><li>Sensorineural deafness with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 22 (DFNA22) [MIM:606346]</li>	<li>rs28936391</li><li>rs28936390</li>	2
Q9UM63	5325	<ul><li>A->V at 272: in dbSNP:rs35263016</ul>									rs35263016	2
Q9UM73	238	<ul><li>S->L at 90: in dbSNP rsrs34617074<li>V->L at 163: in dbSNP rsrs55697431<li>E->Q at 296: in dbSNP rsrs56077855<li>V->A at 476: in dbSNP rsrs35093491<li>L->F at 560: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>T->I at 680: in dbSNP rsrs35228363<li>A->T at 704: in dbSNP rsrs34829159<li>A->S at 877: in an ovarian serous carcinoma sample; somatic mutation<li>T->M at 1012: in dbSNP rsrs35073634<li>G->D at 1121: in dbSNP rsrs55760835<li>A->T at 1274: in dbSNP rsrs45502292<li>M->L at 1328: in dbSNP rsrs56160491<li>K->N at 1416: in dbSNP rsrs55782189<li>E->K at 1419: in dbSNP rsrs56181542<li>Q->R at 1429: in dbSNP rsrs55906201<li>V->I at 1461: in dbSNP:rs1670283<li>K->R at 1491: in dbSNP:rs1881420<li>D->E at 1529: in dbSNP:rs1881421</ul>									<li>rs55760835</li><li>rs56077855</li><li>rs1881420</li><li>rs1670283</li><li>rs34829159</li><li>rs35073634</li><li>rs1881421</li><li>rs55906201</li><li>rs35093491</li><li>rs34617074</li><li>rs35228363</li><li>rs45502292</li><li>rs55697431</li><li>rs56181542</li><li>rs56160491</li><li>rs55782189</li>	2
Q9UM82	9825	<ul><li>L->F at 443: in dbSNP:rs2072985</ul>									rs2072985	2
Q9UMD9	1308	<ul><li>T->A at 4: in dbSNP:rs17116471<li>T->M at 210: in dbSNP:rs805708<li>M->I at 231: in dbSNP:rs1054113<li>M->T at 238<li>S->C at 265: in GABEB, MIM: 226650<li>G->S at 428: in dbSNP:rs805698, MIM: 226650<li>G->V at 627: in GABEB, MIM: 226650<li>G->D at 633: in GABEB, MIM: 226650<li>M->V at 703: in dbSNP:rs805722, MIM: 226650<li>R->Q at 1303: in GABEB, MIM: 226650<li>D->G at 1370: in dbSNP:rs17116350, MIM: 226650</ul>								Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	<li>rs17116471</li><li>rs1054113</li><li>rs805722</li><li>rs805708</li><li>rs17116350</li><li>rs805698</li>	2
Q9UMF0	7087	<ul><li>L->V at 140: in a breast cancer sample; somatic mutation<li>R->W at 188: in a breast cancer sample; somatic mutation<li>E->Q at 488: in a breast cancer sample; somatic mutation</ul>										2
Q9UMN6	9757	<ul><li>P->R at 587: in dbSNP:rs2242519<li>P->L at 754: in dbSNP:rs179686<li>P->L at 1097: in dbSNP:rs34014681<li>P->L at 1829: in dbSNP:rs16970649<li>D->G at 2364: in dbSNP:rs231591<li>K->N at 2408: in dbSNP:rs36062432</ul>									<li>rs16970649</li><li>rs2242519</li><li>rs36062432</li><li>rs179686</li><li>rs34014681</li><li>rs231591</li>	2
Q9UMQ6	11131	<ul><li>V->M at 266: in dbSNP:rs6938938<li>V->A at 441: in dbSNP:rs16871612<li>I->V at 521: in dbSNP:rs34710081<li>S->R at 544: in dbSNP:rs35527493<li>S->N at 728: in dbSNP:rs7761137</ul>									<li>rs6938938</li><li>rs34710081</li><li>rs16871612</li><li>rs7761137</li><li>rs35527493</li>	2
Q9UMR2	11269	<ul><li>V->L at 149: in dbSNP:rs34607244</ul>									rs34607244	2
Q9UMR3	57057	<ul><li>I->M at 152: in ASD4, MIM: 611363</ul>								Atrial septal defect type 4 (ASD4) [MIM:611363]		2
Q9UMR5	9374	<ul><li>W->C at 5: in dbSNP:rs3134604<li>A->E at 34: in dbSNP:rs3096696</ul>									<li>rs3134604</li><li>rs3096696</li>	2
Q9UMR7	50856	<ul><li>H->L at 36: in dbSNP:rs2024301</ul>									rs2024301	2
Q9UMS0	27247	<ul><li>M->K at 25: in dbSNP:rs4453725</ul>									rs4453725	2
Q9UMS6	171024	<ul><li>T->A at 573: in dbSNP:rs7698598</ul>									rs7698598	2
Q9UMW8	11274	<ul><li>T->M at 169: in dbSNP:rs3180408</ul>									rs3180408	2
Q9UMX1	51684	<ul><li>P->L at 15: in dbSNP rsrs28942088<li>A->S at 340: in dbSNP rsrs34135067</ul>									<li>rs34135067</li><li>rs28942088</li>	2
Q9UMX6	2979	<ul><li>E->D at 155</ul>										2
Q9UMX9	51151	<ul><li>P->A at 58: in OCA4, MIM: 606574<li>P->S at 58: in OCA4, MIM: 606574<li>D->N at 157: in OCA4, MIM: 606574<li>G->V at 188: in OCA4, MIM: 606574<li>W->C at 202: in OCA4, MIM: 606574<li>Missing  at 221: in OCA4, MIM: 606574<li>E->K at 272: associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; dbSNP:rs26722, MIM: 606574<li>Y->C at 317: in OCA4, MIM: 606574<li>L->P at 361: in OCA4: in dbSNP rsrs28939380, MIM: 606574<li>L->F at 374: common polymorphism; associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; dbSNP:rs16891982, MIM: 606574<li>A->T at 477: in OCA4, MIM: 606574<li>A->V at 486: in OCA4, MIM: 606574<li>T->P at 500: in dbSNP rsrs11568737, MIM: 606574<li>V->L at 507: in dbSNP rsrs3733808, MIM: 606574</ul>								Oculocutaneous albinism type 4 (OCA4) [MIM:606574]	<li>rs28939380</li><li>rs26722</li><li>rs3733808</li><li>rs16891982</li><li>rs11568737</li>	2
Q9UMZ2	11276	<ul><li>A->G at 40: in dbSNP:rs12944821<li>T->A at 222: in dbSNP:rs12602536</ul>									<li>rs12944821</li><li>rs12602536</li>	2
Q9UMZ3		<ul><li>T->I at 1040: in dbSNP:rs12316867<li>F->L at 1098: in dbSNP:rs6539524<li>A->P at 1120: in dbSNP:rs7975340<li>N->D at 1244: in dbSNP:rs17713202<li>I->T at 1734: in dbSNP:rs7963963<li>R->K at 2121: in dbSNP:rs1163042</ul>									<li>rs12316867</li><li>rs7963963</li><li>rs17713202</li><li>rs6539524</li><li>rs7975340</li><li>rs1163042</li>	2
Q9UN36	57447	<ul><li>T->S at 45: in dbSNP:rs36007455<li>G->V at 48: in dbSNP:rs11552412</ul>									<li>rs36007455</li><li>rs11552412</li>	2
Q9UN66	56128	<ul><li>K->N at 199: in dbSNP:rs2950845<li>E->Q at 244: in dbSNP:rs2950844<li>K->E at 305: in dbSNP:rs3733694<li>A->V at 322: in dbSNP:rs7700833<li>F->L at 767: in dbSNP:rs2740583</ul>									<li>rs7700833</li><li>rs2950845</li><li>rs2950844</li><li>rs3733694</li><li>rs2740583</li>	2
Q9UN72	56141	<ul><li>R->K at 138: in dbSNP:rs10067182<li>A->G at 663: in dbSNP:rs6880234</ul>									<li>rs10067182</li><li>rs6880234</li>	2
Q9UN74	56144	<ul><li>P->S at 184: in dbSNP:rs3822346</ul>									rs3822346	2
Q9UN86	9908	<ul><li>P->L at 434: in a breast cancer sample; somatic mutation</ul>										2
Q9UN88	55879	<ul><li>L->I at 15: in dbSNP:rs4996045<li>F->I at 478: in dbSNP:rs3810651</ul>									<li>rs4996045</li><li>rs3810651</li>	2
Q9UNA0		<ul><li>A->G at 138: in dbSNP:rs457947<li>R->H at 614: in dbSNP:rs2830585<li>P->L at 692: in dbSNP:rs226794</ul>									<li>rs2830585</li><li>rs226794</li><li>rs457947</li>	2
Q9UNA1	23092	<ul><li>N->S at 417: in JMML, MIM: 607785</ul>								Juvenile myelomonocytic leukemia (JMML) [MIM:607785]		2
Q9UNA3	51146	<ul><li>A->D at 218: in dbSNP:rs2246945</ul>									rs2246945	2
Q9UNA4	11201	<ul><li>R->G at 71: in dbSNP:rs3218778<li>I->M at 236: in dbSNP:rs3218784<li>E->K at 251: in dbSNP:rs3218783<li>H->R at 449: in dbSNP:rs3730823<li>F->S at 507: in dbSNP:rs3218786<li>C->R at 535: in dbSNP:rs3218787<li>T->A at 706: in dbSNP:rs8305</ul>									<li>rs8305</li><li>rs3730823</li><li>rs3218783</li><li>rs3218787</li><li>rs3218778</li><li>rs3218786</li><li>rs3218784</li>	2
Q9UND3	9284	<ul><li>R->C at 93: in dbSNP:rs1136474</ul>									rs1136474	2
Q9UNE0	10913	<ul><li>C->Y at 47: in HED<li>C->R at 87: in EDA, MIM: 224900<li>R->H at 89: in EDA; also in autosomal recessive HED, MIM: 224900<li>D->A at 110: in HED, MIM: 224900<li>C->R at 148: in HED, MIM: 224900<li>V->A at 370: associated with hair morphology; results in decreased downstream activity of NFKB1 48 hours after transfection into cells; dbSNP:rs3827760, MIM: 224900<li>R->H at 375: in HED; the mutant protein does not interact with EDARADD and is functionally inactive, MIM: 224900<li>L->F at 377: in HED, MIM: 224900<li>G->S at 382: in HED, MIM: 224900<li>T->M at 403: in HED, MIM: 224900<li>T->P at 413: in HED, MIM: 224900<li>I->T at 418: in HED, MIM: 224900<li>R->Q at 420: in ED3; abolishes NF-kappa-B activation and reduces JNK activation, MIM: 129490<li>W->C at 434: in HED, MIM: 129490</ul>							<li>Q92838</li><li>Q966Y3</li><li>Q95LN5</li><li>P92208</li><li>Q04861</li><li>Q8WWZ3</li><li>P19838</li><li>Q9BEG5</li><li>Q6F3J0</li>	<li>Ectodermal dysplasia type 3 (ED3) [MIM:129490]</li><li>Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]</li>	rs3827760	2
Q9UNF0	11252	<ul><li>N->S at 175: in dbSNP:rs35383004<li>M->I at 294: in dbSNP:rs2746984<li>V->F at 324: in dbSNP:rs1062913</ul>									<li>rs2746984</li><li>rs35383004</li><li>rs1062913</li>	2
Q9UNF1	10916	<ul><li>E->D at 187: in dbSNP:rs12014977<li>Q->R at 266<li>K->Q at 458: in a breast cancer sample; somatic mutation</ul>									rs12014977	2
Q9UNH5	8556	<ul><li>R->Q at 345: in dbSNP rsrs28364897<li>D->Y at 493: in a colorectal cancer sample; somatic mutation<li>S->F at 589: in dbSNP:rs28364923</ul>									<li>rs28364923</li><li>rs28364897</li>	2
Q9UNI1	1990	<ul><li>Q->H at 10: in dbSNP:rs17860287<li>R->W at 44: in dbSNP:rs17860299<li>M->V at 59: in dbSNP:rs17860300<li>G->A at 76: in a breast cancer sample; somatic mutation<li>Q->R at 243: in dbSNP:rs17860364</ul>									<li>rs17860299</li><li>rs17860364</li><li>rs17860300</li><li>rs17860287</li>	2
Q9UNI6	11266	<ul><li>A->E at 51: in dbSNP:rs35106830</ul>									rs35106830	2
Q9UNK4	26279	<ul><li>S->G at 80: in dbSNP:rs584367</ul>									rs584367	2
Q9UNM6	5719	<ul><li>S->N at 13: in dbSNP:rs1045288<li>G->E at 204: in dbSNP:rs1794108<li>L->F at 205: in dbSNP:rs1794109</ul>									<li>rs1794108</li><li>rs1045288</li><li>rs1794109</li>	2
Q9UNN8	10544	<ul><li>S->G at 219: in dbSNP:rs867186</ul>									rs867186	2
Q9UNP4	8869	<ul><li>H->R at 104: in dbSNP:rs3731824</ul>									rs3731824	2
Q9UNQ0	9429	<ul><li>V->M at 12: in dbSNP:rs2231137<li>Q->K at 141: lower transport efficiency; dbSNP:rs2231142<li>Q->E at 166: in dbSNP:rs1061017<li>I->L at 206: in dbSNP rsrs12721643<li>F->S at 208: in dbSNP:rs1061018<li>S->P at 248: in dbSNP:rs3116448<li>D->H at 296: in dbSNP rsrs41282401<li>T->P at 316<li>F->L at 431<li>F->L at 489<li>A->T at 528: in dbSNP rsrs45605536<li>F->I at 571: in dbSNP:rs9282571<li>N->Y at 590: in dbSNP rsrs34264773<li>D->N at 620: in dbSNP rsrs34783571</ul>	transport	GO:0006810							<li>rs45605536</li><li>rs34264773</li><li>rs12721643</li><li>rs34783571</li><li>rs41282401</li><li>rs9282571</li><li>rs1061018</li><li>rs2231137</li><li>rs1061017</li><li>rs3116448</li><li>rs2231142</li>	2
Q9UNS1	8914	<ul><li>A->S at 129<li>A->D at 429: in a breast cancer sample; somatic mutation<li>L->I at 455: in dbSNP:rs774027<li>N->S at 471<li>Q->R at 831: in dbSNP:rs774047<li>M->V at 870<li>R->H at 922<li>R->W at 924<li>Q->E at 1008: in a breast cancer sample; somatic mutation<li>I->T at 1017: in dbSNP rsrs61376834<li>P->L at 1018: in dbSNP:rs2291739</ul>									<li>rs2291739</li><li>rs774047</li><li>rs774027</li><li>rs61376834</li>	2
Q9UNU6		<ul><li>P->S at 88: in dbSNP:rs9865715<li>R->H at 234<li>K->R at 238: in dbSNP:rs35764459<li>L->F at 357: in dbSNP:rs35637877</ul>									<li>rs35637877</li><li>rs35764459</li><li>rs9865715</li>	2
Q9UNW1	9562	<ul><li>S->L at 41: in a follicular thyroid carcinoma; somatic mutation<li>Q->R at 270: in a follicular thyroid adenoma</ul>										2
Q9UNX4	10885	<ul><li>P->A at 234: in dbSNP:rs3738420</ul>									rs3738420	2
Q9UNX9	3770	<ul><li>R->C at 289: in dbSNP:rs3745725</ul>									rs3745725	2
Q9UNY4	8458	<ul><li>K->E at 167: in dbSNP:rs998532<li>K->R at 213: in dbSNP:rs7535524</ul>									<li>rs998532</li><li>rs7535524</li>	2
Q9UNY5	7775	<ul><li>A->V at 123: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UNZ2	55968	<ul><li>D->N at 290: in dbSNP:rs9575</ul>									rs9575	2
Q9UNZ5	28974	<ul><li>K->R at 39: in dbSNP:rs10104</ul>									rs10104	2
Q9UP38	8321	<ul><li>V->M at 343: in dbSNP:rs3750146</ul>									rs3750146	2
Q9UP52	7036	<ul><li>V->I at 22: in HFE3, MIM: 604250<li>M->K at 172: in HFE3, MIM: 604250<li>D->E at 230: in dbSNP:rs41303465, MIM: 604250<li>I->M at 238: in dbSNP:rs34242818, MIM: 604250<li>R->Q at 455: hereditary hemochromatosis modifier; dbSNP:rs41303501, MIM: 604250<li>Q->P at 690: in HFE3, MIM: 604250<li>R->H at 752: in dbSNP:rs41295942, MIM: 604250</ul>								Hereditary hemochromatosis type 3 (HFE3) [MIM:604250]	<li>rs41303501</li><li>rs41295942</li><li>rs41303465</li><li>rs34242818</li>	2
Q9UP65	8605	<ul><li>E->K at 21: in dbSNP:rs11564522<li>A->P at 38: in dbSNP:rs2307279<li>A->V at 127: in dbSNP:rs11564532<li>V->F at 142: in dbSNP:rs11564534<li>I->V at 143: in dbSNP:rs2303744<li>R->G at 148: in dbSNP:rs2307282<li>P->L at 151: in dbSNP:rs11564538<li>P->S at 203: in dbSNP:rs156631<li>T->S at 226: in dbSNP:rs11564541<li>T->P at 360: in dbSNP:rs11564620<li>D->N at 411: in dbSNP:rs11564638<li>R->C at 430</ul>									<li>rs11564541</li><li>rs2307279</li><li>rs156631</li><li>rs11564534</li><li>rs2303744</li><li>rs11564532</li><li>rs11564620</li><li>rs11564522</li><li>rs11564638</li><li>rs11564538</li><li>rs2307282</li>	2
Q9UP83	10466	<ul><li>L->F at 330: in dbSNP:rs2269970<li>I->V at 365: in dbSNP:rs34087251<li>P->S at 558</ul>									<li>rs34087251</li><li>rs2269970</li>	2
Q9UPE1		<ul><li>R->C at 101<li>G->E at 114<li>E->K at 233</ul>										2
Q9UPI3	55640	<ul><li>V->A at 16: in dbSNP:rs2287015<li>A->T at 481: in dbSNP:rs35126362</ul>									<li>rs2287015</li><li>rs35126362</li>	2
Q9UPM8	23431	<ul><li>C->R at 163: in dbSNP:rs2306331</ul>									rs2306331	2
Q9UPN3	23499	<ul><li>E->V at 302: in a breast cancer sample; somatic mutation<li>M->V at 2290: in dbSNP:rs2296172<li>K->R at 4243: in dbSNP:rs682351<li>A->T at 4350: in dbSNP:rs587404<li>E->Q at 4504: in a breast cancer sample; somatic mutation<li>S->T at 4670: in dbSNP:rs668556<li>T->I at 4794: in dbSNP:rs2296174<li>I->V at 4897: in dbSNP:rs12068423<li>G->E at 5135: in a breast cancer sample; somatic mutation</ul>									<li>rs12068423</li><li>rs682351</li><li>rs587404</li><li>rs2296172</li><li>rs2296174</li><li>rs668556</li>	2
Q9UPN6	22828	<ul><li>S->N at 865: in dbSNP:rs34802160</ul>									rs34802160	2
Q9UPN9	51592	<ul><li>V->A at 67: in dbSNP:rs6691166<li>M->I at 580: in a glioblastoma multiforme sample; somatic mutation<li>L->S at 696: in dbSNP rsrs56151583<li>E->K at 811: in a lung adenocarcinoma sample; somatic mutation<li>T->I at 840: in dbSNP:rs6537825<li>P->S at 885: in a glioblastoma multiforme sample; somatic mutation<li>V->M at 961: in dbSNP rsrs55688622<li>P->T at 1090: in dbSNP rsrs55784699</ul>									<li>rs6537825</li><li>rs55688622</li><li>rs55784699</li><li>rs6691166</li><li>rs56151583</li>	2
Q9UPQ0	22998	<ul><li>T->M at 759: in dbSNP:rs11734372</ul>									rs11734372	2
Q9UPQ3	116987	<ul><li>S->G at 82: in an autistic patient<li>D->G at 148: in dbSNP:rs17855721<li>P->L at 522: in dbSNP:rs17840725<li>V->I at 671: in dbSNP:rs2034648<li>R->G at 798: in an autistic patient<li>E->K at 829: in dbSNP:rs15718<li>P->T at 854: in a family with an autistic patient</ul>									<li>rs15718</li><li>rs2034648</li><li>rs17840725</li><li>rs17855721</li>	2
Q9UPQ7	23024	<ul><li>V->A at 703: in dbSNP:rs3205537<li>A->V at 783: in dbSNP:rs3205537</ul>									rs3205537	2
Q9UPQ8	22845	<ul><li>C->S at 99: in CDG1M; 2% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells, MIM: 610768<li>D->V at 224: in dbSNP:rs17485436, MIM: 610768<li>Y->S at 441: in CDG1M; 4% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells, MIM: 610768</ul>								Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]	rs17485436	2
Q9UPQ9	23112	<ul><li>S->C at 517: in dbSNP:rs17001767</ul>									rs17001767	2
Q9UPR0	23228	<ul><li>Q->R at 211: in dbSNP:rs17853614<li>V->M at 635: in dbSNP:rs17857109<li>A->V at 742: in dbSNP:rs17857110<li>P->H at 809: in dbSNP:rs17853612<li>H->R at 890: in dbSNP:rs17853613</ul>									<li>rs17857109</li><li>rs17853614</li><li>rs17853612</li><li>rs17853613</li><li>rs17857110</li>	2
Q9UPR3	23381	<ul><li>N->D at 1004: in dbSNP:rs17853821</ul>									rs17853821	2
Q9UPR5	6543	<ul><li>V->L at 429: in dbSNP:rs17759929</ul>									rs17759929	2
Q9UPR6	23217	<ul><li>S->L at 164: in dbSNP:rs2240235<li>M->V at 183: in dbSNP:rs2240234<li>V->L at 210: in dbSNP:rs2240233<li>P->L at 235: in dbSNP:rs2240232<li>A->T at 577: in dbSNP:rs2301843<li>D->N at 589: in dbSNP:rs2301839</ul>									<li>rs2240235</li><li>rs2240234</li><li>rs2301839</li><li>rs2240233</li><li>rs2240232</li><li>rs2301843</li>	2
Q9UPS8	22852	<ul><li>Q->R at 20: in dbSNP:rs7897309<li>V->I at 1304: in dbSNP:rs10829163<li>F->L at 1513: in dbSNP:rs2274741</ul>									<li>rs2274741</li><li>rs7897309</li><li>rs10829163</li>	2
Q9UPT6	23162	<ul><li>T->A at 753: in dbSNP:rs2294619</ul>									rs2294619	2
Q9UPT8	23211	<ul><li>E->K at 287: in dbSNP:rs192824<li>M->V at 464: in dbSNP:rs402833<li>A->G at 1228: in dbSNP:rs309195</ul>									<li>rs309195</li><li>rs402833</li><li>rs192824</li>	2
Q9UPU5	23358	<ul><li>T->I at 226: in dbSNP:rs1165222<li>G->S at 1940: in dbSNP:rs2274540<li>Y->S at 2134: in dbSNP:rs12753590<li>V->A at 2468: in dbSNP:rs487230</ul>									<li>rs2274540</li><li>rs487230</li><li>rs12753590</li><li>rs1165222</li>	2
Q9UPV0	22897	<ul><li>S->N at 94: in dbSNP:rs490262<li>T->S at 988: in dbSNP:rs2305830<li>Q->R at 1119: in dbSNP:rs573455</ul>									<li>rs573455</li><li>rs2305830</li><li>rs490262</li>	2
Q9UPW0		<ul><li>A->V at 162: in dbSNP:rs343376<li>P->T at 377: in dbSNP:rs1139978</ul>									<li>rs1139978</li><li>rs343376</li>	2
Q9UPW5	23287	<ul><li>E->K at 423: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UPX6	23251	<ul><li>V->F at 320: in dbSNP:rs11634652<li>I->V at 832: in dbSNP:rs2297773</ul>									<li>rs2297773</li><li>rs11634652</li>	2
Q9UPY6	10810	<ul><li>S->L at 415: in dbSNP:rs17084492</ul>									rs17084492	2
Q9UPZ3	11234	<ul><li>L->M at 417: in dbSNP:rs7128017</ul>									rs7128017	2
Q9UPZ9	22858	<ul><li>P->L at 98: in dbSNP:rs1493105<li>F->Y at 115: in a renal clear cell carcinoma sample; somatic mutation<li>V->I at 320: in dbSNP:rs33936662<li>T->K at 471: in dbSNP rsrs56164633<li>R->Q at 476: in dbSNP rsrs55895113<li>A->T at 615: in dbSNP rsrs55932059</ul>									<li>rs55932059</li><li>rs56164633</li><li>rs33936662</li><li>rs55895113</li><li>rs1493105</li>	2
Q9UQ03	10391	<ul><li>P->L at 313: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UQ05	23415	<ul><li>G->R at 797: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UQ07	5891	<ul><li>R->H at 38: in dbSNP:rs34114580<li>D->N at 86: in dbSNP rsrs34084056<li>K->R at 230: in dbSNP:rs34965156<li>P->S at 248: in dbSNP rsrs34299975<li>E->D at 272: in a breast pleomorphic lobular carcinoma sample; somatic mutation<li>Q->R at 398: in dbSNP:rs2236493</ul>									<li>rs34114580</li><li>rs2236493</li><li>rs34965156</li><li>rs34299975</li><li>rs34084056</li>	2
Q9UQ10	27294	<ul><li>A->P at 2: in dbSNP:rs10401800<li>S->N at 66: in dbSNP:rs2270941<li>V->M at 200: in dbSNP:rs35453148<li>V->A at 247: in dbSNP:rs11666105<li>G->R at 282: in dbSNP:rs3765148</ul>									<li>rs2270941</li><li>rs11666105</li><li>rs35453148</li><li>rs3765148</li><li>rs10401800</li>	2
Q9UQ35	23524	<ul><li>P->T at 804: in dbSNP:rs2240140<li>T->R at 856: in dbSNP:rs12185191<li>S->C at 883: in dbSNP:rs17136053</ul>									<li>rs2240140</li><li>rs17136053</li><li>rs12185191</li>	2
Q9UQ52	27255	<ul><li>T->A at 108: in a breast cancer sample; somatic mutation<li>F->S at 150: in dbSNP:rs6808056<li>A->S at 440: in dbSNP:rs265771<li>S->C at 585: in a breast cancer sample; somatic mutation</ul>									<li>rs6808056</li><li>rs265771</li>	2
Q9UQ53	11282	<ul><li>Q->H at 257: in dbSNP:rs190631<li>L->F at 491: in dbSNP:rs17854722</ul>									<li>rs17854722</li><li>rs190631</li>	2
Q9UQ74	440533	<ul><li>Q->P at 315: in dbSNP:rs11879884<li>V->D at 349: in dbSNP:rs1064490</ul>									<li>rs1064490</li><li>rs11879884</li>	2
Q9UQ84	9156	<ul><li>V->A at 27<li>V->I at 76: in dbSNP:rs4149864<li>R->G at 93: in dbSNP:rs4149865<li>E->K at 109: abrogates exonuclease activity<li>A->S at 137<li>N->S at 279: in dbSNP:rs4149909<li>N->S at 299: in dbSNP:rs4149910<li>H->R at 354: in dbSNP:rs735943<li>L->R at 410: abrogates exonuclease activity<li>D->N at 428: in dbSNP:rs4149962<li>F->C at 438<li>T->M at 439: may be associated with an increased risk of colorectal cancer; dbSNP:rs4149963<li>S->Y at 456: in dbSNP:rs4149964<li>V->M at 458: in dbSNP:rs4149965<li>V->L at 460: in dbSNP:rs4149966<li>R->T at 503: in dbSNP:rs4149967<li>E->K at 589: in dbSNP:rs1047840<li>S->G at 610: in dbSNP:rs12122770<li>R->Q at 634: in dbSNP:rs4149978<li>P->A at 640<li>P->S at 640: reduces interaction with MSH2; abrogates interaction with MSH2; when associated with L-770<li>E->G at 670: in dbSNP:rs1776148<li>R->C at 723: in dbSNP:rs1635498<li>H->P at 726<li>P->L at 757: may be associated with a reduced risk of colorectal cancer; dbSNP:rs9350<li>G->E at 759: reduces interaction with MSH2; abrogates interaction with MSH2; when associated with L-770; dbSNP:rs4150001<li>P->L at 770: reduces interaction with MSH2; abrogates interaction with MSH2; when associated with S-640 or E-759<li>A->V at 827</ul>							<li>P20321</li><li>Q5XXB5</li><li>P25847</li><li>P00638</li><li>P03697</li><li>O24617</li><li>P43246</li><li>Q3MHE4</li>		<li>rs1635498</li><li>rs4149967</li><li>rs4149966</li><li>rs4149978</li><li>rs4149965</li><li>rs4149964</li><li>rs4149963</li><li>rs4149962</li><li>rs4150001</li><li>rs4149910</li><li>rs4149864</li><li>rs4149909</li><li>rs9350</li><li>rs12122770</li><li>rs4149865</li><li>rs1047840</li><li>rs735943</li><li>rs1776148</li>	2
Q9UQ88	728642	<ul><li>R->W at 93: in dbSNP:rs1059831<li>L->S at 399: in dbSNP:rs1059828</ul>									<li>rs1059828</li><li>rs1059831</li>	2
Q9UQ90	6687	<ul><li>T->A at 503: in dbSNP:rs2292954<li>F->C at 623: in dbSNP:rs17783943<li>R->Q at 688: in dbSNP:rs12960<li>S->T at 692: in SPG7, MIM: 607259<li>N->D at 730: in dbSNP:rs35749032, MIM: 607259</ul>							Q9UQ90	Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	<li>rs12960</li><li>rs35749032</li><li>rs2292954</li><li>rs17783943</li>	2
Q9UQB3	1501	<ul><li>P->S at 1159: in a colorectal cancer sample; somatic mutation</ul>										2
Q9UQB8	10458	<ul><li>Q->R at 519: in dbSNP:rs4969391</ul>									rs4969391	2
Q9UQB9	6795	<ul><li>G->E at 52: in a lung adenocarcinoma sample; somatic mutation<li>E->Q at 148: in a lung squamous cell carcinoma sample; somatic mutation<li>H->Q at 244: in a lung adenocarcinoma sample; somatic mutation</ul>										2
Q9UQC2	9846	<ul><li>P->L at 320: in dbSNP:rs2279374<li>P->L at 344: in dbSNP:rs2279374</ul>									rs2279374	2
Q9UQC9	9635	<ul><li>V->I at 80: in dbSNP:rs11580625<li>Q->E at 306: in dbSNP:rs17409304<li>G->D at 534: in dbSNP:rs1413426<li>G->E at 754: in a breast cancer sample; somatic mutation</ul>									<li>rs17409304</li><li>rs11580625</li><li>rs1413426</li>	2
Q9UQE7	9126	<ul><li>Missing  at 491: in CDLS3</ul>										2
Q9UQF0	30816	<ul><li>V->A at 129<li>R->Q at 138: in dbSNP rsrs55903518<li>S->N at 307: in dbSNP:rs10266695<li>S->F at 477</ul>									<li>rs55903518</li><li>rs10266695</li>	2
Q9UQF2	9479	<ul><li>S->N at 59: in NIDDM, MIM: 125853<li>A->V at 322: in dbSNP:rs34420676, MIM: 125853<li>R->Q at 353: in dbSNP:rs12295161, MIM: 125853</ul>								Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs12295161</li><li>rs34420676</li>	2
Q9UQN3	25978	<ul><li>I->V at 29<li>D->Y at 148: in FTD3, MIM: 600795<li>Q->H at 206: in amyotrophic lateral sclerosis; CHMP2B-related, MIM: 600795</ul>							<li>Q9UQN3</li><li>Q5RAV2</li><li>Q3SX42</li><li>Q5F3A2</li>	Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]		2
Q9UQP3	63923	<ul><li>R->G at 79: in dbSNP:rs2072032<li>D->N at 289: in dbSNP:rs16847812<li>R->S at 440: in dbSNP:rs6664276<li>T->M at 499: in dbSNP:rs17374761<li>W->R at 807: in dbSNP:rs6696455<li>P->L at 930: in dbSNP:rs2285215<li>T->M at 941: in dbSNP:rs10798333<li>D->E at 1135: in dbSNP:rs10158841<li>A->V at 1156: in dbSNP:rs2072036</ul>									<li>rs6696455</li><li>rs10798333</li><li>rs6664276</li><li>rs2072036</li><li>rs10158841</li><li>rs16847812</li><li>rs2072032</li><li>rs2285215</li><li>rs17374761</li>	2
Q9UQQ2	10019	<ul><li>F->L at 182: in dbSNP:rs7972796<li>W->R at 262: associated with susceptibility to CELIAC13 and IDDM; dbSNP:rs3184504</ul>									<li>rs7972796</li><li>rs3184504</li>	2
Q9UQV4	27074	<ul><li>E->G at 32: in dbSNP:rs17853113<li>I->V at 318: in dbSNP:rs482912</ul>									<li>rs482912</li><li>rs17853113</li>	2
Q9Y210	7225	<ul><li>P->Q at 112: in FSGS2, MIM: 603965<li>N->S at 143: in FSGS2, MIM: 603965<li>N->T at 157: in dbSNP:rs35857503, MIM: 603965<li>S->T at 270: in FSGS2, MIM: 603965<li>R->C at 895: in FSGS2, MIM: 603965<li>E->K at 897: in FSGS2, MIM: 603965</ul>								Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]	rs35857503	2
Q9Y215	8292	<ul><li>P->Q at 59: in CMSE; abrogates binding to T subunit, MIM: 603034<li>S->G at 312: in dbSNP:rs6782980, MIM: 603034<li>D->E at 342: in CMSE; impairs anchoring to the basal lamina, MIM: 603034<li>R->Q at 410: in CMSE, MIM: 603034<li>Y->S at 430: in CMSE, MIM: 603034<li>C->Y at 444: in CMSE, MIM: 603034</ul>			binding	GO:0005488	basal lamina	GO:0005605		Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]	rs6782980	2
Q9Y217	9107	<ul><li>V->I at 319: in dbSNP:rs7995033</ul>									rs7995033	2
Q9Y219	3714	<ul><li>E->K at 501: in dbSNP:rs1057744<li>D->N at 538: in dbSNP:rs9972231</ul>									<li>rs1057744</li><li>rs9972231</li>	2
Q9Y221	51388	<ul><li>E->Q at 171: in a breast cancer sample; somatic mutation</ul>										2
Q9Y222	9988	<ul><li>V->I at 479: in dbSNP:rs1558049</ul>									rs1558049	2
Q9Y223	10020	<ul><li>P->S at 27: in IBM2, MIM: 600737<li>P->L at 36: in IBM2, MIM: 600737<li>H->Q at 132: in NM, MIM: 605820<li>R->C at 162: in IBM2, MIM: 600737<li>M->V at 171: in IBM2, MIM: 600737<li>D->V at 176: in NM, MIM: 605820<li>R->C at 177: in NM, MIM: 605820<li>I->F at 200: in IBM2, MIM: 600737<li>G->S at 206: in IBM2; moderate phenotype with unusual involvement of quadriceps, MIM: 600737<li>V->A at 216: in IBM2, MIM: 600737<li>D->N at 225: in IBM2, MIM: 600737<li>R->Q at 246: in IBM2, MIM: 600737<li>R->W at 246: in IBM2, MIM: 600737<li>R->L at 263: in sialuria; strong reduction of feedback inhibition by CMP-Neu5Ac, MIM: 269921<li>R->Q at 266: in sialuria; abolishes feedback inhibition by CMP-Neu5Ac, MIM: 269921<li>R->W at 266: in sialuria, MIM: 269921<li>C->V at 303: in IBM2; requires 2 nucleotide substitutions, MIM: 600737<li>R->Q at 306: in NM, MIM: 605820<li>V->A at 331: in NM, MIM: 605820<li>D->Y at 378: in IBM2 and NM, MIM: 605820<li>A->V at 460: in NM and IBM2, MIM: 605820<li>I->T at 472: in NM, MIM: 605820<li>N->S at 519: in IBM2, MIM: 600737<li>A->V at 524: in IBM2, MIM: 600737<li>F->C at 528: in IBM2, MIM: 600737<li>I->T at 557: in IBM2, MIM: 600737<li>V->L at 572: in NM and IBM2, MIM: 605820<li>G->E at 576: in IBM2, MIM: 600737<li>I->T at 587: in IBM2, MIM: 600737<li>A->T at 600: in IBM2, MIM: 600737<li>A->T at 630: in NM, MIM: 605820<li>A->T at 631: in IBM2, MIM: 600737<li>A->V at 631: in NM and IBM2, MIM: 605820<li>Y->H at 675: in IBM2, MIM: 600737<li>V->M at 696: in IBM2, MIM: 600737<li>M->T at 712: in IBM2: in dbSNP rsrs28937594, MIM: 600737</ul>							<li>P21941</li><li>P05099</li>	<li>Inclusion body myopathy type 2 (IBM2) [MIM:600737]</li><li>Sialuria [MIM:269921]</li><li>Nonaka myopathy (NM) [MIM:605820]</li>	rs28937594	2
Q9Y226	9390	<ul><li>V->I at 43: in dbSNP:rs17853496<li>L->F at 443: in dbSNP:rs17857080</ul>									<li>rs17857080</li><li>rs17853496</li>	2
Q9Y227	9583	<ul><li>K->E at 354: in dbSNP:rs2272641</ul>									rs2272641	2
Q9Y228	80342	<ul><li>Q->E at 373: in dbSNP:rs669694<li>P->S at 529: in a colorectal cancer sample; somatic mutation</ul>									rs669694	2
Q9Y231	10690	<ul><li>A->T at 237: in dbSNP:rs3811069<li>W->G at 358: in dbSNP:rs9986564</ul>									<li>rs3811069</li><li>rs9986564</li>	2
Q9Y232	9425	<ul><li>T->A at 2: in dbSNP:rs3812179<li>S->P at 9: in dbSNP:rs3812178<li>V->A at 48: in dbSNP:rs13196069<li>A->G at 60: in dbSNP:rs28360500</ul>									<li>rs28360500</li><li>rs3812179</li><li>rs13196069</li><li>rs3812178</li>	2
Q9Y233	10846	<ul><li>L->P at 303<li>R->K at 706: in dbSNP:rs2224252<li>D->N at 707: in dbSNP:rs2860112</ul>									<li>rs2224252</li><li>rs2860112</li>	2
Q9Y235	10930	<ul><li>I->T at 136: in dbSNP:rs2076472</ul>									rs2076472	2
Q9Y236	734	<ul><li>Y->H at 101: in dbSNP:rs35542900<li>C->S at 319: in dbSNP:rs35599414</ul>									<li>rs35599414</li><li>rs35542900</li>	2
Q9Y238	9940	<ul><li>P->R at 351: in a breast cancer sample; somatic mutation</ul>										2
Q9Y239	10392	<ul><li>E->K at 266: in dbSNP:rs2075820<li>D->N at 372: in dbSNP:rs5743342<li>R->H at 447: in dbSNP:rs2975634<li>R->W at 605: in dbSNP:rs5743345<li>A->T at 610: in dbSNP:rs5743346</ul>									<li>rs2075820</li><li>rs5743342</li><li>rs5743345</li><li>rs5743346</li><li>rs2975634</li>	2
Q9Y240	6320	<ul><li>P->R at 104: in dbSNP:rs2303688</ul>									rs2303688	2
Q9Y242	6941	<ul><li>P->S at 109: in dbSNP:rs7750641<li>M->V at 211: in dbSNP:rs2073721<li>P->L at 241: in dbSNP:rs2073724</ul>									<li>rs2073721</li><li>rs7750641</li><li>rs2073724</li>	2
Q9Y243	10000	<ul><li>G->R at 171: in a glioblastoma multiforme sample; somatic mutation</ul>										2
Q9Y250	11178	<ul><li>S->P at 29: in esophageal cancer: in dbSNP rsrs28937897<li>S->F at 50: in dbSNP:rs34620053<li>K->E at 119: in esophageal cancer<li>L->V at 475: in dbSNP:rs723874</ul>									<li>rs28937897</li><li>rs34620053</li><li>rs723874</li>	2
Q9Y251	10855	<ul><li>N->S at 260: in some hepatocellular carcinoma</ul>										2
Q9Y252	6049	<ul><li>N->S at 48: in dbSNP:rs3910433<li>V->E at 203: in dbSNP:rs7990167<li>S->N at 623: in dbSNP:rs17083436</ul>									<li>rs3910433</li><li>rs7990167</li><li>rs17083436</li>	2
Q9Y253	5429	<ul><li>Missing  at 75: in XPV; impairs translesion synthesis<li>R->H at 111: in XPV, MIM: 278750<li>T->P at 122: in XPV, MIM: 278750<li>G->D at 153: in a breast cancer sample; somatic mutation, MIM: 278750<li>G->V at 209: in dbSNP:rs2307456, MIM: 278750<li>G->V at 263: in XPV; impairs translesion synthesis, MIM: 278750<li>R->W at 334: in dbSNP:rs9333548, MIM: 278750<li>R->S at 361: in XPV, MIM: 278750<li>T->M at 478: in dbSNP:rs9296419, MIM: 278750<li>K->E at 535: in XPV: in dbSNP rsrs56307355, MIM: 278750<li>L->P at 584: in dbSNP:rs9333554, MIM: 278750<li>K->T at 589: in XPV, MIM: 278750<li>M->V at 595: in dbSNP:rs9333555, MIM: 278750<li>M->L at 647: in dbSNP:rs6941583, MIM: 278750</ul>							Q9Y253	Xeroderma pigmentosum variant type (XPV) [MIM:278750]	<li>rs9333548</li><li>rs2307456</li><li>rs9333555</li><li>rs56307355</li><li>rs9333554</li><li>rs9296419</li><li>rs6941583</li>	2
Q9Y256	9986	<ul><li>P->A at 326: in a breast cancer sample; somatic mutation</ul>										2
Q9Y257	9424	<ul><li>T->I at 150: in dbSNP:rs35762773<li>V->M at 259: in dbSNP:rs34989303</ul>									<li>rs34989303</li><li>rs35762773</li>	2
Q9Y258	10344	<ul><li>L->R at 18: in dbSNP:rs11465333</ul>									rs11465333	2
Q9Y261	3170	<ul><li>A->V at 328: in Japanese subjects with maturity-onset diabetes of the young; pathological significance unknown</ul>										2
Q9Y262	51386	<ul><li>N->S at 239: in dbSNP:rs11551387</ul>									rs11551387	2
Q9Y264	51378	<ul><li>E->K at 395: in dbSNP:rs869171</ul>									rs869171	2
Q9Y274	10402	<ul><li>A->T at 311: in dbSNP:rs28489284</ul>									rs28489284	2
Q9Y275	10673	<ul><li>A->T at 105</ul>										2
Q9Y276	617	<ul><li>G->R at 35: in BJS; with mild mitochondrial CIII deficiency, MIM: 262000<li>R->C at 45: in CIII deficiency, MIM: 124000<li>S->G at 78: in GRACILE syndrome; Finnish patients; dbSNP:rs28937590, MIM: 603358<li>P->L at 99: in CIII deficiency, MIM: 124000<li>R->W at 114: in BJS, MIM: 262000<li>R->Q at 144: in GRACILE syndrome, MIM: 603358<li>R->P at 155: in CIII deficiency, MIM: 124000<li>R->H at 183: in BJS, MIM: 262000<li>R->C at 184: in BJS; with mild mitochondrial CIII deficiency, MIM: 262000<li>S->N at 277: in CIII deficiency, MIM: 124000<li>Q->E at 302: in BJS, MIM: 262000<li>R->H at 306: in BJS, MIM: 262000<li>V->A at 327: in GRACILE syndrome, MIM: 603358<li>V->M at 353: in CIII deficiency, MIM: 124000</ul>							<li>P14110</li><li>P18681</li><li>P03044</li><li>P01083</li>	<li>GRACILE syndrome [MIM:603358]</li><li>Bjoernstad syndrome (BJS) [MIM:262000]</li><li>Mitochondrial complex III deficiency (CIII deficiency) [MIM:124000]</li>	rs28937590	2
Q9Y278	9956	<ul><li>P->A at 339: in dbSNP:rs17725080</ul>									rs17725080	2
Q9Y279	11326	<ul><li>R->W at 108: in dbSNP:rs34581041<li>G->E at 272: in dbSNP:rs34222730<li>G->E at 279: in dbSNP:rs17315645<li>S->I at 397: in dbSNP:rs35553694</ul>									<li>rs34581041</li><li>rs35553694</li><li>rs17315645</li><li>rs34222730</li>	2
Q9Y281	1073	<ul><li>A->T at 35: in NEM7; protein is less soluble when expressed in Escherichia coli, MIM: 610687<li>I->M at 47: in a breast cancer sample; somatic mutation, MIM: 610687</ul>								Nemaline myopathy type 7 (NEM7) [MIM:610687]		2
Q9Y282	51614	<ul><li>I->L at 113: in dbSNP:rs35505616<li>T->K at 297: in a colorectal cancer sample; somatic mutation</ul>									rs35505616	2
Q9Y283	27130	<ul><li>S->L at 242: in dbSNP:rs2491097<li>P->R at 482: in NPHP2, MIM: 602088<li>L->S at 493: in NPHP2; impairs ability to target DVL1 for degradation, MIM: 602088<li>S->R at 888: in dbSNP:rs1052867, MIM: 602088</ul>							<li>P54792</li><li>Q6JAN1</li><li>Q5IS48</li><li>Q9Y283</li><li>O14640</li>	Nephronophthisis type 2 (NPHP2) [MIM:602088]	<li>rs1052867</li><li>rs2491097</li>	2
Q9Y284	51398	<ul><li>P->A at 104: in dbSNP:rs3209404</ul>									rs3209404	2
Q9Y285	2193	<ul><li>Q->R at 341: in dbSNP:rs35087277</ul>									rs35087277	2
Q9Y286	27036	<ul><li>L->P at 215: in a colorectal cancer sample; somatic mutation</ul>										2
Q9Y287	9445	<ul><li>S->FNLFLNSQEKHY at 266: in FDD; amyloid ADan<li>S->SRTVKKNIIEEN at 266: in FBD; amyloid ABri</ul>										2
Q9Y289	8884	<ul><li>S->F at 481: in dbSNP:rs1395<li>S->N at 492: in dbSNP:rs1064845</ul>									<li>rs1395</li><li>rs1064845</li>	2
Q9Y296	51399	<ul><li>D->A at 78: in dbSNP:rs11640</ul>									rs11640	2
Q9Y297	8945	<ul><li>A->S at 543: in dbSNP:rs4151060<li>P->H at 592: in dbSNP:rs2270439</ul>									<li>rs2270439</li><li>rs4151060</li>	2
Q9Y2A9	10331	<ul><li>H->R at 328: in dbSNP:rs36686</ul>									rs36686	2
Q9Y2B4	27296	<ul><li>R->H at 57: in dbSNP:rs2231616<li>V->A at 172: in dbSNP:rs2231619<li>R->H at 191: in dbSNP:rs2231620<li>H->Q at 219: in dbSNP:rs2231622<li>P->L at 221: in dbSNP:rs2231623<li>V->A at 257: in dbSNP:rs2231627<li>H->N at 275: in dbSNP:rs2231628</ul>									<li>rs2231628</li><li>rs2231619</li><li>rs2231627</li><li>rs2231616</li><li>rs2231623</li><li>rs2231620</li><li>rs2231622</li>	2
Q9Y2C3	10317	<ul><li>S->R at 27: in dbSNP:rs12627708<li>M->T at 85: in dbSNP:rs3746887<li>R->H at 144: in dbSNP:rs734411</ul>									<li>rs734411</li><li>rs3746887</li><li>rs12627708</li>	2
Q9Y2C4	9941	<ul><li>G->V at 277: abolishes catalytic activity; dbSNP:rs1141223</ul>			catalytic activity	GO:0003824					rs1141223	2
Q9Y2C5	10050	<ul><li>A->T at 372: in dbSNP:rs11754288</ul>									rs11754288	2
Q9Y2D1		<ul><li>L->P at 121: in dbSNP:rs283526</ul>									rs283526	2
Q9Y2D5	445815	<ul><li>L->S at 561: in dbSNP:rs914358</ul>									rs914358	2
Q9Y2E4	22982	<ul><li>A->E at 586: in a breast cancer sample; somatic mutation<li>G->S at 622: in a colorectal cancer sample; somatic mutation<li>V->M at 1264: in a breast cancer sample; somatic mutation</ul>										2
Q9Y2E5	23324	<ul><li>P->Q at 243: in dbSNP:rs2301796<li>V->M at 320: in dbSNP:rs2301795<li>V->M at 446: in dbSNP:rs2301790<li>S->N at 541: in dbSNP:rs2301788</ul>									<li>rs2301790</li><li>rs2301796</li><li>rs2301795</li><li>rs2301788</li>	2
Q9Y2F5	23379	<ul><li>S->C at 391: in dbSNP:rs2619844<li>K->E at 596: in dbSNP:rs10475299<li>I->V at 901: in dbSNP:rs2578500<li>T->A at 1054: in dbSNP:rs3806873<li>G->D at 1058: in dbSNP:rs3806874<li>Q->P at 1597: in dbSNP:rs10065646</ul>									<li>rs3806874</li><li>rs3806873</li><li>rs10475299</li><li>rs2578500</li><li>rs10065646</li><li>rs2619844</li>	2
Q9Y2G1	745	<ul><li>A->T at 723: in dbSNP:rs34038946</ul>									rs34038946	2
Q9Y2G2	22900	<ul><li>I->V at 68: in dbSNP:rs11881179</ul>									rs11881179	2
Q9Y2G4	22881	<ul><li>Q->E at 122: in dbSNP:rs16881983<li>V->I at 128: in dbSNP:rs3748085<li>T->M at 233: in dbSNP:rs2273238<li>T->A at 545: in dbSNP:rs9362667</ul>									<li>rs9362667</li><li>rs3748085</li><li>rs16881983</li><li>rs2273238</li>	2
Q9Y2H1	23012	<ul><li>G->A at 99: in a aLL TEL/AML1+ sample; somatic mutation</ul>							<li>P41212</li><li>Q01196</li>			2
Q9Y2H2	22876	<ul><li>I->V at 453: in dbSNP:rs3736822<li>N->D at 997: in dbSNP:rs3188055</ul>									<li>rs3188055</li><li>rs3736822</li>	2
Q9Y2H5	22874	<ul><li>V->I at 43: in dbSNP:rs10900571<li>R->K at 837: in dbSNP:rs10900562</ul>									<li>rs10900562</li><li>rs10900571</li>	2
Q9Y2H8	22869	<ul><li>Q->R at 43: in dbSNP:rs2289651<li>C->R at 89: in dbSNP:rs3780548<li>N->K at 273: in dbSNP:rs10217154<li>H->D at 398: in dbSNP:rs11999094<li>M->I at 401: in dbSNP:rs10217494<li>G->E at 634: in dbSNP:rs10119874</ul>									<li>rs10119874</li><li>rs10217154</li><li>rs3780548</li><li>rs2289651</li><li>rs11999094</li><li>rs10217494</li>	2
Q9Y2H9	22983	<ul><li>A->T at 269: in a metastatic melanoma sample; somatic mutation<li>A->S at 1048: in dbSNP:rs35052801<li>H->Y at 1240: in an ovarian serous carcinoma sample; somatic mutation<li>P->S at 1292: in dbSNP rsrs35071862</ul>									<li>rs35052801</li><li>rs35071862</li>	2
Q9Y2I1	11188	<ul><li>I->V at 299: in dbSNP:rs9856575<li>A->V at 1056: in dbSNP:rs887515</ul>									<li>rs9856575</li><li>rs887515</li>	2
Q9Y2I7	200576	<ul><li>K->R at 1103: in CFD, MIM: 121850</ul>							<li>P51779</li><li>P00746</li>	Corneal fleck dystrophy (CFD) [MIM:121850]		2
Q9Y2I8	22884	<ul><li>I->V at 225: in dbSNP:rs2306407</ul>									rs2306407	2
Q9Y2I9	23329	<ul><li>Q->H at 296: in dbSNP:rs11615287<li>N->D at 596: in dbSNP:rs2290527<li>V->I at 752: in dbSNP:rs939875</ul>									<li>rs11615287</li><li>rs2290527</li><li>rs939875</li>	2
Q9Y2J2	23136	<ul><li>A->T at 555: in dbSNP:rs9966357<li>Y->C at 575: in dbSNP:rs8082898<li>E->Q at 859: in dbSNP:rs8096452</ul>									<li>rs9966357</li><li>rs8096452</li><li>rs8082898</li>	2
Q9Y2J4	51421	<ul><li>D->E at 731: in dbSNP:rs1353776</ul>									rs1353776	2
Q9Y2K2	23387	<ul><li>H->L at 331: in a breast cancer sample; somatic mutation<li>D->E at 1040: in dbSNP:rs11216163<li>P->R at 1078: in dbSNP:rs12225230<li>A->V at 1103: in a breast cancer sample; somatic mutation</ul>									<li>rs11216163</li><li>rs12225230</li>	2
Q9Y2K3	22989	<ul><li>R->Q at 454: in dbSNP:rs4299484<li>Y->H at 504: in dbSNP:rs9868484<li>T->I at 949: in dbSNP:rs12638212<li>T->A at 1125: in dbSNP:rs3900940<li>D->N at 1467: in dbSNP:rs1078456</ul>									<li>rs1078456</li><li>rs4299484</li><li>rs12638212</li><li>rs3900940</li><li>rs9868484</li>	2
Q9Y2K6	10868	<ul><li>S->Y at 103: in dbSNP:rs36086252<li>V->I at 444: in dbSNP:rs36055332</ul>									<li>rs36055332</li><li>rs36086252</li>	2
Q9Y2K9	9515	<ul><li>T->S at 568: in dbSNP:rs17249244<li>V->I at 855: in dbSNP:rs17740066</ul>									<li>rs17249244</li><li>rs17740066</li>	2
Q9Y2L1	22894	<ul><li>N->S at 269: in dbSNP:rs4883918<li>T->R at 326: in dbSNP:rs7332388</ul>									<li>rs4883918</li><li>rs7332388</li>	2
Q9Y2L5	22878	<ul><li>R->Q at 537: in a breast cancer sample; somatic mutation</ul>										2
Q9Y2L9	23143	<ul><li>P->S at 234: in dbSNP:rs842381<li>A->S at 486: in dbSNP:rs11617392</ul>									<li>rs842381</li><li>rs11617392</li>	2
Q9Y2M0	22909	<ul><li>G->E at 233: in dbSNP:rs4779794</ul>									rs4779794	2
Q9Y2M2	51066	<ul><li>P->L at 29: in dbSNP:rs2276800</ul>									rs2276800	2
Q9Y2N7	64344	<ul><li>Q->R at 343: in dbSNP:rs3764609<li>F->L at 463: in dbSNP:rs7253301</ul>									<li>rs3764609</li><li>rs7253301</li>	2
Q9Y2P4	28965	<ul><li>L->V at 19: in dbSNP:rs2526247</ul>									rs2526247	2
Q9Y2P5	10998	<ul><li>M->T at 50: in dbSNP:rs35350976<li>R->W at 53: in dbSNP:rs34415062</ul>									<li>rs34415062</li><li>rs35350976</li>	2
Q9Y2Q0	10396	<ul><li>T->M at 673: in dbSNP:rs3792687</ul>									rs3792687	2
Q9Y2Q9	28957	<ul><li>R->W at 103: in dbSNP:rs16919579</ul>									rs16919579	2
Q9Y2R2	26191	<ul><li>R->W at 620: confers susceptibility to systemic lupus erythematosus and type 1 diabetes mellitus; affects CSK kinase binding; dbSNP:rs2476601</ul>			kinase binding	GO:0019900			<li>P41239</li><li>Q0VBZ0</li><li>P41240</li>		rs2476601	2
Q9Y2R9	51081	<ul><li>V->A at 2: in dbSNP:rs8075276</ul>									rs8075276	2
Q9Y2T6	9290	<ul><li>G->V at 195: in dbSNP:rs3749073<li>T->N at 215: in dbSNP:rs34229723</ul>									<li>rs3749073</li><li>rs34229723</li>	2
Q9Y2T7	51087	<ul><li>G->V at 9: in dbSNP:rs222859<li>S->P at 63: in dbSNP:rs8069533</ul>									<li>rs8069533</li><li>rs222859</li>	2
Q9Y2U5	10746	<ul><li>I->V at 110: in dbSNP rsrs55767983<li>M->I at 112: in a lung large cell carcinoma sample; somatic mutation<li>D->G at 140: in dbSNP rsrs56307783</ul>									<li>rs55767983</li><li>rs56307783</li>	2
Q9Y2U8	23592	<ul><li>D->Y at 260: in dbSNP:rs7487311</ul>									rs7487311	2
Q9Y2V3	30062	<ul><li>D->E at 44: in dbSNP:rs2271733<li>R->Q at 192: in MCOP3; does not affect nuclear localization; reduces DNA binding activity, MIM: 611038</ul>	localization	GO:0051179	DNA binding	GO:0003677				Microphthalmia isolated type 3 (MCOP3) [MIM:611038]	rs2271733	2
Q9Y2V7	57511	<ul><li>A->T at 10: in dbSNP:rs3812882<li>C->S at 32: in dbSNP:rs3812883<li>H->Y at 300: in dbSNP:rs34555836</ul>									<li>rs3812882</li><li>rs3812883</li><li>rs34555836</li>	2
Q9Y2W1	9967	<ul><li>A->V at 201: in dbSNP:rs6425977</ul>									rs6425977	2
Q9Y2W7	30818	<ul><li>A->V at 119: in dbSNP:rs35658670<li>A->S at 170: in a breast cancer sample; somatic mutation<li>D->Y at 179: in a breast cancer sample; somatic mutation</ul>									rs35658670	2
Q9Y2X0	10025	<ul><li>L->F at 770: in dbSNP:rs34859566<li>E->K at 874: in dbSNP:rs13090</ul>									<li>rs13090</li><li>rs34859566</li>	2
Q9Y2X9	23528	<ul><li>I->T at 527: in a breast cancer sample; somatic mutation</ul>										2
Q9Y2Y0	23568	<ul><li>E->K at 87: in dbSNP:rs7198865</ul>									rs7198865	2
Q9Y2Y1	51728	<ul><li>S->A at 24: in dbSNP:rs183360</ul>									rs183360	2
Q9Y2Y4	27033	<ul><li>R->S at 174: in dbSNP:rs2227278</ul>									rs2227278	2
Q9Y2Y6	26022	<ul><li>W->R at 83: in dbSNP:rs35124349</ul>									rs35124349	2
Q9Y2Y8	10394	<ul><li>R->C at 3: in dbSNP:rs669661<li>T->I at 109: in dbSNP:rs540687</ul>									<li>rs540687</li><li>rs669661</li>	2
Q9Y2Z4	51067	<ul><li>G->V at 191: in dbSNP:rs11539445</ul>									rs11539445	2
Q9Y2Z9	51004	<ul><li>D->Y at 300: in dbSNP:rs1044640<li>D->V at 339: in dbSNP:rs2074930<li>T->M at 395: in dbSNP:rs34746680<li>V->M at 406: in dbSNP:rs8500</ul>									<li>rs2074930</li><li>rs8500</li><li>rs34746680</li><li>rs1044640</li>	2
Q9Y303	51005	<ul><li>D->N at 294: in a colorectal cancer sample; somatic mutation</ul>										2
Q9Y312	25980	<ul><li>P->T at 124: in dbSNP:rs6121183</ul>									rs6121183	2
Q9Y314	51070	<ul><li>T->M at 168: in dbSNP:rs17850728</ul>									rs17850728	2
Q9Y336	27180	<ul><li>K->E at 100: in dbSNP:rs2075803<li>S->N at 125: in dbSNP:rs200658<li>K->Q at 131: in dbSNP:rs16988910<li>N->K at 147: in dbSNP:rs273687<li>A->E at 315: in dbSNP:rs2258983<li>A->D at 316: in dbSNP:rs273688<li>V->A at 349: in dbSNP:rs273690</ul>									<li>rs2075803</li><li>rs2258983</li><li>rs273687</li><li>rs273690</li><li>rs273688</li><li>rs200658</li><li>rs16988910</li>	2
Q9Y337	25818	<ul><li>G->R at 55: in dbSNP:rs2232532<li>D->N at 153: in dbSNP:rs183854</ul>									<li>rs183854</li><li>rs2232532</li>	2
Q9Y345	9152	<ul><li>A->E at 89: no effect on subcellular location; no effect on glycine transport<li>G->S at 102: in dbSNP:rs1443547<li>S->F at 124: in dbSNP:rs1443548<li>A->G at 132: in dbSNP:rs34243519<li>G->A at 162: in dbSNP:rs1443549<li>Q->R at 184<li>L->V at 306: in STHE; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro, MIM: 149400<li>T->M at 425: in STHE; no effect on subcellular location; impairs glycine transport, MIM: 149400<li>K->N at 457: in dbSNP:rs3740870, MIM: 149400<li>D->N at 463: in 10% of the population; dbSNP:rs1805091, MIM: 149400<li>W->C at 482: in STHE; no effect on subcellular location; impairs glycine transport, MIM: 149400<li>Y->C at 491: in STHE; no effect on subcellular location; impairs glycine transport, MIM: 149400<li>Y->F at 499: in dbSNP:rs7944684, MIM: 149400<li>N->S at 509: in STHE; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport, MIM: 149400<li>S->R at 510: in STHE; results in the formation of large aggregates in the cytoplasm; impairs glycine transport, MIM: 149400<li>V->E at 632: in a breast cancer sample; somatic mutation, MIM: 149400<li>V->A at 751, MIM: 149400<li>G->R at 767: in dbSNP:rs16906628, MIM: 149400</ul>	glycine transport	GO:0015816			cytoplasm	GO:0005737		Startle disease (STHE) [MIM:149400]	<li>rs1805091</li><li>rs1443547</li><li>rs7944684</li><li>rs1443548</li><li>rs1443549</li><li>rs34243519</li><li>rs16906628</li><li>rs3740870</li>	2
Q9Y375	51103	<ul><li>R->H at 9: in dbSNP:rs1899<li>R->L at 31: in dbSNP:rs3204853<li>E->K at 176: in dbSNP:rs35227875<li>A->G at 314: in dbSNP:rs12900702</ul>									<li>rs1899</li><li>rs35227875</li><li>rs12900702</li><li>rs3204853</li>	2
Q9Y383	51631	<ul><li>D->E at 361: in dbSNP:rs3757435</ul>									rs3757435	2
Q9Y385	51465	<ul><li>G->V at 55: in dbSNP:rs8099<li>L->V at 229: in dbSNP:rs10502</ul>									<li>rs8099</li><li>rs10502</li>	2
Q9Y388	51634	<ul><li>R->H at 287: in dbSNP:rs5977266</ul>									rs5977266	2
Q9Y394	51635	<ul><li>R->Q at 218: in dbSNP:rs34583017</ul>									rs34583017	2
Q9Y399	51116	<ul><li>D->G at 112: in dbSNP:rs35140806<li>M->V at 158: in dbSNP:rs35293407<li>H->R at 294: in dbSNP:rs3748199</ul>									<li>rs3748199</li><li>rs35293407</li><li>rs35140806</li>	2
Q9Y3A0	51117	<ul><li>R->Q at 20: in dbSNP:rs9697215<li>G->A at 50: in dbSNP rsrs3003601</ul>									<li>rs3003601</li><li>rs9697215</li>	2
Q9Y3A4	27341	<ul><li>L->M at 75: in dbSNP:rs8139383<li>V->I at 85: in dbSNP:rs1812240<li>V->I at 88: in dbSNP:rs11553441</ul>									<li>rs1812240</li><li>rs8139383</li><li>rs11553441</li>	2
Q9Y3A5	51119	<ul><li>N->K at 8: in SDS: in dbSNP rsrs28942099, MIM: 260400<li>E->G at 44: in SDS, MIM: 260400<li>K->E at 67: in SDS, MIM: 260400<li>I->S at 87: in SDS, MIM: 260400<li>R->T at 126: in SDS, MIM: 260400<li>R->C at 169: in SDS, MIM: 260400<li>I->T at 212: in SDS, MIM: 260400</ul>							P20132	Shwachman-Diamond syndrome (SDS) [MIM:260400]	rs28942099	2
Q9Y3A6	50999	<ul><li>T->I at 175: in dbSNP rsrs1060622</ul>									rs1060622	2
Q9Y3B6	51016	<ul><li>A->V at 97: in dbSNP:rs11574512</ul>									rs11574512	2
Q9Y3B9	51018	<ul><li>A->V at 32: in dbSNP:rs34358288<li>K->N at 149: in dbSNP:rs11118075<li>K->R at 230: in dbSNP:rs3737978</ul>									<li>rs34358288</li><li>rs11118075</li><li>rs3737978</li>	2
Q9Y3C6	51645	<ul><li>C->S at 36: in dbSNP:rs12194408</ul>									rs12194408	2
Q9Y3C8	51506	<ul><li>Y->C at 90: in dbSNP:rs17849932</ul>									rs17849932	2
Q9Y3D2	22921	<ul><li>E->G at 46: in dbSNP:rs2296466</ul>									rs2296466	2
Q9Y3D3	51021	<ul><li>Y->H at 12: in dbSNP:rs7905009</ul>									rs7905009	2
Q9Y3D7	51025	<ul><li>Q->K at 114: in dbSNP:rs11989</ul>									rs11989	2
Q9Y3E2	51027	<ul><li>G->A at 98: in dbSNP:rs1044808</ul>									rs1044808	2
Q9Y3I0	51493	<ul><li>V->A at 153: in dbSNP:rs11545747<li>L->F at 343: in dbSNP:rs17849275</ul>									<li>rs17849275</li><li>rs11545747</li>	2
Q9Y3I1	25793	<ul><li>M->I at 115: in dbSNP:rs11107<li>R->G at 378: in PKPS, MIM: 260300</ul>								Parkinsonian-pyramidal syndrome (PKPS) [MIM:260300]	rs11107	2
Q9Y3L3	23616	<ul><li>L->P at 431: in dbSNP:rs929038<li>P->L at 511: in dbSNP:rs929038<li>S->F at 656: in dbSNP:rs2269548</ul>									<li>rs2269548</li><li>rs929038</li>	2
Q9Y3M8	90627	<ul><li>T->M at 175: in dbSNP:rs9568878<li>K->R at 250: in dbSNP:rs3742321<li>R->P at 383: in dbSNP:rs34425674<li>N->S at 798: in dbSNP:rs35144435</ul>									<li>rs34425674</li><li>rs35144435</li><li>rs3742321</li><li>rs9568878</li>	2
Q9Y3M9	26152	<ul><li>V->I at 17: in dbSNP:rs926487<li>R->G at 467: in dbSNP:rs16987972</ul>									<li>rs926487</li><li>rs16987972</li>	2
Q9Y3N9	26692	<ul><li>M->V at 81: in allele 6M1-15*03; dbSNP:rs34892006<li>D->N at 296: in allele 6M1-15*02; dbSNP:rs35771565</ul>									<li>rs35771565</li><li>rs34892006</li>	2
Q9Y3P4	25807	<ul><li>T->M at 86: in dbSNP:rs2272902<li>H->R at 227: in dbSNP:rs2231397</ul>									<li>rs2231397</li><li>rs2272902</li>	2
Q9Y3Q0	10003	<ul><li>V->I at 101: in dbSNP:rs11018879<li>I->V at 446: in dbSNP:rs10830430</ul>									<li>rs11018879</li><li>rs10830430</li>	2
Q9Y3Q3	23423	<ul><li>D->N at 86: in dbSNP:rs3784543</ul>									rs3784543	2
Q9Y3Q4	10021	<ul><li>D->N at 553: in a patient with cardiac arrhythmia<li>S->R at 672: in SSS2; does not affect cAMP-induced channel activation; causes shifting of the current activation range to hyperpolarized voltages, MIM: 163800</ul>							P00360	Sick sinus syndrome type 2 (SSS2) [MIM:163800]		2
Q9Y3Q7	8749	<ul><li>V->F at 212: in dbSNP:rs10093794</ul>									rs10093794	2
Q9Y3Q8	81628	<ul><li>V->M at 329: in a breast cancer sample; somatic mutation</ul>										2
Q9Y3R4	4759	<ul><li>S->R at 11: in dbSNP:rs2233384<li>R->Q at 41: reduced activity; increased sensitivity to inhibition by oseltamivir carboxylate; dbSNP:rs2233385<li>A->T at 145: in dbSNP:rs2233390<li>H->N at 168: in dbSNP:rs2233391<li>R->Q at 182: in dbSNP:rs2233393</ul>									<li>rs2233385</li><li>rs2233384</li><li>rs2233390</li><li>rs2233391</li><li>rs2233393</li>	2
Q9Y3R5	9980	<ul><li>S->W at 1021: in dbSNP:rs7278340<li>G->C at 1118: in dbSNP:rs4817788<li>P->H at 1149: in dbSNP:rs3746866<li>R->S at 1217: in dbSNP:rs3746867<li>G->E at 2139: in dbSNP:rs3827183</ul>									<li>rs3827183</li><li>rs4817788</li><li>rs7278340</li><li>rs3746867</li><li>rs3746866</li>	2
Q9Y3S2	27309	<ul><li>T->A at 28: in dbSNP:rs35353789<li>L->M at 298: in dbSNP:rs34631212</ul>									<li>rs35353789</li><li>rs34631212</li>	2
Q9Y3T6	203069	<ul><li>A->T at 136: in dbSNP:rs6980542<li>R->K at 185: in dbSNP:rs3808536<li>V->M at 347: in dbSNP:rs2272761<li>L->R at 403: in dbSNP:rs13530</ul>									<li>rs3808536</li><li>rs6980542</li><li>rs13530</li><li>rs2272761</li>	2
Q9Y3T9	26155	<ul><li>A->V at 271: in dbSNP:rs3828049<li>V->I at 300: in dbSNP:rs3748597<li>S->L at 556: in dbSNP:rs35471880</ul>									<li>rs35471880</li><li>rs3828049</li><li>rs3748597</li>	2
Q9Y3U8	25873	<ul><li>K->E at 67: in dbSNP:rs11556110</ul>									rs11556110	2
Q9Y3V2	25950	<ul><li>A->V at 47: in dbSNP:rs259358<li>K->N at 86: in dbSNP:rs2296308</ul>									<li>rs2296308</li><li>rs259358</li>	2
Q9Y3X0	26093	<ul><li>E->D at 215: in dbSNP:rs2032811<li>A->V at 456: in dbSNP:rs35119724<li>L->P at 478: in dbSNP:rs888836</ul>									<li>rs35119724</li><li>rs888836</li><li>rs2032811</li>	2
Q9Y3Y4	26108	<ul><li>P->H at 299: in dbSNP:rs11858624</ul>									rs11858624	2
Q9Y426	25966	<ul><li>V->A at 211: in dbSNP:rs2839421<li>T->A at 618: in dbSNP:rs9981024</ul>									<li>rs2839421</li><li>rs9981024</li>	2
Q9Y442	25775	<ul><li>H->L at 11: in dbSNP:rs1984388</ul>									rs1984388	2
Q9Y448	90417	<ul><li>A->E at 40: in dbSNP:rs7164132<li>R->L at 75: in dbSNP:rs7169404<li>P->S at 92: in dbSNP:rs7169262</ul>									<li>rs7164132</li><li>rs7169262</li><li>rs7169404</li>	2
Q9Y450	10767	<ul><li>G->S at 440: in dbSNP:rs4435957</ul>									rs4435957	2
Q9Y458	50945	<ul><li>V->A at 16: in a colorectal cancer sample; somatic mutation<li>A->T at 51: in a colorectal cancer sample; somatic mutation<li>G->C at 118: in CPX, MIM: 303400<li>M->V at 121: in CPX, MIM: 303400<li>P->L at 183: in CPX, MIM: 303400<li>E->K at 187: in dbSNP rsrs34244923, MIM: 303400<li>L->P at 214: in CPX, MIM: 303400<li>T->M at 260: in CPX, MIM: 303400<li>N->Y at 264: in CPX: in dbSNP rsrs28935177, MIM: 303400<li>D->N at 307: in a colorectal cancer sample; somatic mutation, MIM: 303400</ul>							<li>Q42946</li><li>P36551</li><li>Q42840</li><li>Q9LR75</li><li>P35055</li>	X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	<li>rs28935177</li><li>rs34244923</li>	2
Q9Y463	9149	<ul><li>L->P at 28: in dbSNP:rs34587974<li>R->H at 102: in dbSNP rsrs55687541<li>S->G at 234: in dbSNP:rs35858874<li>Q->R at 275: in a metastatic melanoma sample; somatic mutation</ul>									<li>rs55687541</li><li>rs35858874</li><li>rs34587974</li>	2
Q9Y467	6297	<ul><li>S->C at 75: in dbSNP:rs2242527<li>S->P at 122: in dbSNP:rs1263811<li>R->G at 746: in dbSNP:rs1263810</ul>									<li>rs2242527</li><li>rs1263811</li><li>rs1263810</li>	2
Q9Y468	26013	<ul><li>S->T at 49: in dbSNP:rs17857202<li>I->M at 479: in dbSNP:rs6017104<li>H->R at 759: in dbSNP:rs6030948</ul>									<li>rs6030948</li><li>rs6017104</li><li>rs17857202</li>	2
Q9Y473	7728	<ul><li>C->R at 505: in dbSNP:rs3764548</ul>									rs3764548	2
Q9Y487	23545	<ul><li>R->Q at 685: in dbSNP:rs7969410<li>A->V at 813: in dbSNP:rs17883456</ul>									<li>rs7969410</li><li>rs17883456</li>	2
Q9Y490	7094	<ul><li>S->L at 1227: in dbSNP:rs2295795<li>R->W at 1919: in dbSNP:rs17854239</ul>									<li>rs17854239</li><li>rs2295795</li>	2
Q9Y4A5	8295	<ul><li>R->L at 878: in dbSNP:rs17161510<li>R->C at 893: in an ovarian serous carcinoma sample; somatic mutation<li>S->G at 1070: in dbSNP rsrs55920979<li>R->H at 1669: in a colorectal adenocarcinoma sample; somatic mutation<li>R->H at 1724: in a gastric adenocarcinoma sample; somatic mutation<li>A->V at 1925<li>P->L at 1932: in a colorectal adenocarcinoma sample; somatic mutation<li>R->L at 1947: in an ovarian mucinous carcinoma sample; somatic mutation<li>W->G at 2139<li>R->W at 2302: in a colorectal adenocarcinoma sample; somatic mutation<li>S->G at 2433<li>P->L at 2690: in a lung large cell carcinoma sample; somatic mutation<li>E->D at 2750<li>K->E at 2801<li>T->M at 2931: in a colorectal adenocarcinoma sample; somatic mutation</ul>									<li>rs55920979</li><li>rs17161510</li>	2
Q9Y4A9	26539	<ul><li>G->R at 16: in dbSNP:rs4808383<li>A->V at 65: in dbSNP:rs4808382<li>H->Q at 175: in dbSNP:rs1859298</ul>									<li>rs4808382</li><li>rs4808383</li><li>rs1859298</li>	2
Q9Y4B4		<ul><li>F->L at 1369: in dbSNP:rs35712917</ul>									rs35712917	2
Q9Y4B5	23255	<ul><li>R->Q at 852: in dbSNP:rs1965665<li>D->G at 889: in dbSNP:rs3744979<li>G->S at 1088: in dbSNP:rs12386117<li>K->Q at 1202: in dbSNP:rs11874468</ul>									<li>rs11874468</li><li>rs1965665</li><li>rs3744979</li><li>rs12386117</li>	2
Q9Y4B6	9730	<ul><li>N->D at 267: in dbSNP:rs3749318<li>L->F at 378: in dbSNP:rs17712228<li>L->P at 1031: in dbSNP:rs9835229</ul>									<li>rs17712228</li><li>rs9835229</li><li>rs3749318</li>	2
Q9Y4C1	55818	<ul><li>D->H at 187: in a breast cancer sample; somatic mutation<li>E->K at 194: in dbSNP:rs13424350<li>V->I at 212: in dbSNP:rs2030259<li>V->E at 710: in dbSNP:rs11677451</ul>									<li>rs11677451</li><li>rs2030259</li><li>rs13424350</li>	2
Q9Y4C4		<ul><li>L->V at 163: in dbSNP:rs34984230<li>P->L at 892: in dbSNP:rs429433</ul>									<li>rs429433</li><li>rs34984230</li>	2
Q9Y4C8	9904	<ul><li>R->H at 609: in dbSNP:rs2290789<li>T->I at 623: in dbSNP:rs2290788<li>A->T at 665: in dbSNP:rs2290787<li>R->Q at 921: in dbSNP:rs2075387</ul>									<li>rs2290789</li><li>rs2075387</li><li>rs2290788</li><li>rs2290787</li>	2
Q9Y4D2	747	<ul><li>G->V at 735: in dbSNP:rs35056845<li>P->L at 889: in dbSNP:rs3741252<li>D->E at 945: in dbSNP:rs34956386</ul>									<li>rs3741252</li><li>rs34956386</li><li>rs35056845</li>	2
Q9Y4D7	23129	<ul><li>M->V at 870: in dbSNP:rs2255703</ul>									rs2255703	2
Q9Y4F1	10160	<ul><li>P->L at 8: in dbSNP:rs9300466<li>R->L at 714: in a breast cancer sample; somatic mutation</ul>									rs9300466	2
Q9Y4F4	23116	<ul><li>E->Q at 416: in dbSNP:rs3825629<li>L->V at 511: in dbSNP:rs3742591</ul>									<li>rs3742591</li><li>rs3825629</li>	2
Q9Y4F9	9750	<ul><li>A->G at 145: in dbSNP:rs11967003<li>V->M at 320: in dbSNP:rs35331811<li>E->K at 424: in dbSNP:rs34016544<li>S->C at 452: in dbSNP:rs34298086<li>E->K at 495: in dbSNP:rs35514577<li>R->C at 520: in dbSNP:rs35780910</ul>									<li>rs35780910</li><li>rs35514577</li><li>rs34016544</li><li>rs11967003</li><li>rs35331811</li><li>rs34298086</li>	2
Q9Y4G2	9842	<ul><li>R->H at 377: in dbSNP:rs1859059</ul>									rs1859059	2
Q9Y4G6	83660	<ul><li>V->A at 340: in dbSNP:rs11634784<li>A->S at 1148: in dbSNP:rs2280279<li>V->I at 1877: in dbSNP:rs7182971<li>T->I at 2144: in dbSNP:rs11633796<li>F->L at 2266: in dbSNP:rs3816988</ul>									<li>rs7182971</li><li>rs3816988</li><li>rs2280279</li><li>rs11634784</li><li>rs11633796</li>	2
Q9Y4H2	8660	<ul><li>H->Y at 789: in dbSNP:rs35223808<li>G->S at 879<li>G->A at 882<li>V->M at 999: in dbSNP:rs35927012<li>G->D at 1057: in dbSNP:rs1805097</ul>									<li>rs35927012</li><li>rs1805097</li><li>rs35223808</li>	2
Q9Y4I1	4644	<ul><li>R->C at 1246: in dbSNP rsrs1058219</ul>									rs1058219	2
Q9Y4I5	9633	<ul><li>C->R at 223: in dbSNP:rs12365708</ul>									rs12365708	2
Q9Y4J8	1837	<ul><li>P->L at 121: in LVNC1 and LVNCCHD, MIM: 606617<li>A->E at 180: in dbSNP:rs1048081, MIM: 606617</ul>								<li>Non-compaction of left ventricular myocardium with congenital heart defects (LVNCCHD) [MIM:606617]</li><li>Non-compaction of left ventricular myocardium isolated autosomal dominant type 1 (LVNC1) [MIM:604169]</li>	rs1048081	2
Q9Y4K0	4017	<ul><li>S->R at 308: in dbSNP:rs4871866<li>S->W at 359: in dbSNP:rs4602894<li>M->L at 570: in dbSNP:rs1063582</ul>									<li>rs1063582</li><li>rs4871866</li><li>rs4602894</li>	2
Q9Y4K4	11183	<ul><li>A->T at 334: in dbSNP rsrs12881869<li>P->L at 407: in dbSNP rsrs34818002<li>I->V at 446: in dbSNP rsrs55815015<li>N->K at 473: in dbSNP rsrs35768475<li>R->Q at 552: in dbSNP rsrs55997280<li>T->M at 633: in dbSNP rsrs17780143</ul>									<li>rs12881869</li><li>rs34818002</li><li>rs17780143</li><li>rs35768475</li><li>rs55997280</li><li>rs55815015</li>	2
Q9Y4L5	27246	<ul><li>G->R at 194: in dbSNP:rs11577731</ul>									rs11577731	2
Q9Y4P1	23192	<ul><li>Q->L at 354: in dbSNP:rs7601000</ul>									rs7601000	2
Q9Y4P3	26608	<ul><li>V->I at 345: in dbSNP:rs35607697</ul>									rs35607697	2
Q9Y4R7	26140	<ul><li>E->K at 174: in dbSNP:rs3806669<li>N->H at 418: in dbSNP:rs2290302<li>G->S at 454: in a colorectal cancer sample; somatic mutation<li>M->I at 476: in a colorectal cancer sample; somatic mutation<li>M->R at 502: in dbSNP:rs2290305<li>A->T at 689: in dbSNP:rs1057278</ul>									<li>rs2290305</li><li>rs1057278</li><li>rs2290302</li><li>rs3806669</li>	2
Q9Y4R8	9894	<ul><li>E->G at 7: in dbSNP:rs2667661<li>Q->R at 146: in dbSNP:rs2235624<li>Q->R at 674: in dbSNP:rs2248128</ul>									<li>rs2235624</li><li>rs2667661</li><li>rs2248128</li>	2
Q9Y4U1	25974	<ul><li>Q->R at 27: in MMACHC, MIM: 277400<li>L->P at 116: in MMACHC, MIM: 277400<li>H->R at 122: in MMACHC, MIM: 277400<li>Y->H at 130: in MMACHC, MIM: 277400<li>G->A at 147: in MMACHC, MIM: 277400<li>G->D at 147: in MMACHC, MIM: 277400<li>G->D at 156: in MMACHC, MIM: 277400<li>W->C at 157: in MMACHC, MIM: 277400<li>R->G at 161: in MMACHC, MIM: 277400<li>R->Q at 161: in MMACHC, MIM: 277400<li>R->S at 189: in MMACHC, MIM: 277400<li>L->P at 193: in MMACHC, MIM: 277400<li>R->P at 206: in MMACHC, MIM: 277400<li>R->W at 206: in MMACHC, MIM: 277400<li>S->G at 271: in dbSNP:rs35219601, MIM: 277400</ul>							<li>Q9Y4U1</li><li>Q5ZL21</li><li>Q5E9C8</li>	Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	rs35219601	2
Q9Y4W2	81887	<ul><li>R->C at 170: in a colorectal cancer sample; somatic mutation</ul>										2
Q9Y4X1	10941	<ul><li>G->R at 308: in dbSNP:rs4148301</ul>									rs4148301	2
Q9Y4X3	10850	<ul><li>I->V at 78: in dbSNP:rs11575594<li>L->F at 96: in dbSNP:rs11575584</ul>									<li>rs11575584</li><li>rs11575594</li>	2
Q9Y4Z2		<ul><li>R->L at 93: in DIAR4; attenuated NEUROG3 function in vivo, MIM: 610370<li>R->S at 107: in DIAR4; attenuated NEUROG3 function in vivo, MIM: 610370<li>F->S at 199: in dbSNP:rs4536103, MIM: 610370</ul>							Q9Y4Z2	Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	rs4536103	2
Q9Y512	25813	<ul><li>I->V at 345: in dbSNP:rs8418</ul>									rs8418	2
Q9Y520	23215	<ul><li>A->T at 235: in dbSNP:rs10913157<li>N->K at 343: in dbSNP:rs36013361<li>E->G at 468: in dbSNP:rs704839<li>T->A at 906: in dbSNP:rs760644<li>P->S at 959: in dbSNP:rs34269512<li>S->C at 1624: in dbSNP:rs235468<li>P->S at 1771: in dbSNP:rs1687056<li>L->R at 1868: in dbSNP:rs3820169<li>A->T at 1885: in dbSNP:rs12025905<li>P->R at 1924: in dbSNP:rs183523</ul>									<li>rs235468</li><li>rs12025905</li><li>rs1687056</li><li>rs36013361</li><li>rs3820169</li><li>rs760644</li><li>rs704839</li><li>rs10913157</li><li>rs34269512</li><li>rs183523</li>	2
Q9Y561	29967	<ul><li>S->G at 694: in dbSNP:rs16871494</ul>									rs16871494	2
Q9Y566	50944	<ul><li>A->V at 6: in dbSNP:rs10423744<li>A->D at 569: in a colorectal cancer sample; somatic mutation<li>V->A at 1504: in dbSNP:rs3745521<li>G->R at 2026: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3745521</li><li>rs10423744</li>	2
Q9Y572	11035	<ul><li>E->V at 260: in dbSNP:rs7153640<li>T->M at 300: in dbSNP:rs34106261<li>P->Q at 492: in dbSNP:rs3212254</ul>									<li>rs7153640</li><li>rs3212254</li><li>rs34106261</li>	2
Q9Y573	3652	<ul><li>K->R at 264: in dbSNP:rs28375469</ul>									rs28375469	2
Q9Y574	51666	<ul><li>V->L at 17: in dbSNP:rs35047380</ul>									rs35047380	2
Q9Y581	11172	<ul><li>F->L at 80: in dbSNP:rs2149554</ul>									rs2149554	2
Q9Y585	26189	<ul><li>G->C at 256: in dbSNP:rs2241091<li>R->C at 260: in dbSNP:rs2469791<li>W->C at 293: in dbSNP:rs12150427</ul>									<li>rs2241091</li><li>rs2469791</li><li>rs12150427</li>	2
Q9Y597	51133	<ul><li>F->V at 9: in dbSNP:rs2275768</ul>									rs2275768	2
Q9Y5A9	51441	<ul><li>T->S at 217: in dbSNP:rs16838382<li>P->S at 454: in dbSNP:rs35288745</ul>									<li>rs35288745</li><li>rs16838382</li>	2
Q9Y5B0	9150	<ul><li>T->M at 340: in dbSNP:rs2279103<li>L->S at 755: in dbSNP:rs34967023</ul>									<li>rs2279103</li><li>rs34967023</li>	2
Q9Y5C1	27329	<ul><li>N->Y at 418: in dbSNP:rs4145257</ul>									rs4145257	2
Q9Y5E2	56129	<ul><li>E->K at 120: in dbSNP:rs17286891<li>E->K at 187: in dbSNP:rs17096946<li>V->L at 389: in dbSNP:rs2910313</ul>									<li>rs17096946</li><li>rs17286891</li><li>rs2910313</li>	2
Q9Y5E3	56130	<ul><li>V->I at 231: in dbSNP:rs3776096<li>L->F at 232: in dbSNP:rs10076554<li>H->Q at 636: in dbSNP:rs246703<li>Y->H at 747: in dbSNP:rs17685621</ul>									<li>rs246703</li><li>rs10076554</li><li>rs17685621</li><li>rs3776096</li>	2
Q9Y5E4	26167	<ul><li>I->T at 156: in dbSNP:rs17096901<li>S->P at 720: in dbSNP:rs400562</ul>									<li>rs400562</li><li>rs17096901</li>	2
Q9Y5E5	56131	<ul><li>K->R at 168: in dbSNP:rs34350292<li>P->L at 255: in dbSNP:rs3733697<li>P->S at 255: in dbSNP:rs3733698<li>A->T at 421: in dbSNP:rs3776099<li>T->A at 553: in dbSNP:rs246669</ul>									<li>rs3733698</li><li>rs246669</li><li>rs3776099</li><li>rs3733697</li><li>rs34350292</li>	2
Q9Y5E6	56132	<ul><li>K->R at 41: in dbSNP:rs31849<li>E->K at 207: in dbSNP:rs12515688<li>R->S at 414: in dbSNP:rs3733699</ul>									<li>rs31849</li><li>rs3733699</li><li>rs12515688</li>	2
Q9Y5E7	56133	<ul><li>V->I at 128: in dbSNP:rs31853<li>L->P at 674: in dbSNP:rs384081<li>G->D at 760: in dbSNP:rs1047372</ul>									<li>rs384081</li><li>rs31853</li><li>rs1047372</li>	2
Q9Y5E8	56121	<ul><li>S->R at 474: in dbSNP:rs618506<li>R->Q at 494: in dbSNP:rs618096<li>A->V at 719: in a breast cancer sample; somatic mutation<li>G->V at 758: in a breast cancer sample; somatic mutation</ul>									<li>rs618506</li><li>rs618096</li>	2
Q9Y5F1	56124	<ul><li>T->I at 420: in dbSNP:rs2910327<li>K->E at 763: in dbSNP:rs2910006</ul>									<li>rs2910006</li><li>rs2910327</li>	2
Q9Y5F2	56125	<ul><li>Q->R at 4: in dbSNP:rs3756323<li>R->H at 7: in dbSNP:rs917535</ul>									<li>rs917535</li><li>rs3756323</li>	2
Q9Y5F3	29930	<ul><li>F->L at 385: in dbSNP:rs2233591<li>L->F at 390: in dbSNP:rs2233592<li>A->V at 524: in dbSNP:rs17208383<li>T->I at 611: in dbSNP:rs10476822<li>I->T at 712: in dbSNP:rs31738<li>K->I at 719: in dbSNP:rs2233595<li>F->L at 778: in dbSNP:rs246679</ul>									<li>rs17208383</li><li>rs246679</li><li>rs2233591</li><li>rs2233592</li><li>rs31738</li><li>rs2233595</li><li>rs10476822</li>	2
Q9Y5F6	56097	<ul><li>G->S at 275: in dbSNP:rs2233603<li>D->G at 570: in dbSNP:rs2074912</ul>									<li>rs2074912</li><li>rs2233603</li>	2
Q9Y5F8	56099	<ul><li>V->L at 405: in dbSNP:rs17208397</ul>									rs17208397	2
Q9Y5F9	56100	<ul><li>P->S at 684: in dbSNP:rs3749768<li>A->T at 722: in dbSNP:rs3749767<li>S->A at 775: in dbSNP:rs6891442</ul>									<li>rs3749767</li><li>rs3749768</li><li>rs6891442</li>	2
Q9Y5G0	56101	<ul><li>G->S at 188: in dbSNP:rs6867460</ul>									rs6867460	2
Q9Y5G1	56102	<ul><li>F->Y at 20: in dbSNP:rs6860590<li>N->K at 389: in dbSNP:rs2240697</ul>									<li>rs2240697</li><li>rs6860590</li>	2
Q9Y5G2	56103	<ul><li>P->R at 26: in dbSNP:rs17097231</ul>									rs17097231	2
Q9Y5G4	56107	<ul><li>L->F at 791: in dbSNP:rs17097274</ul>									rs17097274	2
Q9Y5G5	9708	<ul><li>L->R at 16: in dbSNP:rs726684</ul>									rs726684	2
Q9Y5G6	56108	<ul><li>E->G at 188: in dbSNP:rs2072315<li>L->F at 212: in dbSNP:rs2240698<li>T->M at 239: in dbSNP:rs17097251</ul>									<li>rs2072315</li><li>rs17097251</li><li>rs2240698</li>	2
Q9Y5G7	56109	<ul><li>R->S at 248: in dbSNP:rs11575953</ul>									rs11575953	2
Q9Y5G9	56111	<ul><li>A->T at 150: in dbSNP:rs11575949<li>R->K at 641: in dbSNP:rs4329068<li>D->H at 683: in dbSNP:rs11575951</ul>									<li>rs11575949</li><li>rs4329068</li><li>rs11575951</li>	2
Q9Y5H1	56113	<ul><li>Q->R at 5: in dbSNP:rs6878145</ul>									rs6878145	2
Q9Y5H2	56105	<ul><li>F->L at 104: in dbSNP:rs11167744</ul>									rs11167744	2
Q9Y5H3	56106	<ul><li>I->V at 89: in dbSNP:rs4912751<li>S->P at 796: in dbSNP:rs11575963</ul>									<li>rs11575963</li><li>rs4912751</li>	2
Q9Y5H4	56114	<ul><li>V->I at 152: in dbSNP:rs2472647<li>H->Q at 282: in dbSNP:rs17097185</ul>									<li>rs2472647</li><li>rs17097185</li>	2
Q9Y5H5	9752	<ul><li>S->R at 28: in dbSNP:rs251353<li>K->R at 138: in dbSNP:rs364101<li>L->V at 336: in dbSNP:rs251354<li>G->R at 430: in dbSNP:rs251355<li>K->T at 764: in dbSNP:rs369639</ul>									<li>rs251355</li><li>rs251354</li><li>rs369639</li><li>rs251353</li><li>rs364101</li>	2
Q9Y5H6	56140	<ul><li>S->N at 78: in dbSNP:rs3756331<li>P->R at 269: in dbSNP:rs525886<li>N->T at 403: in dbSNP:rs3733706</ul>									<li>rs525886</li><li>rs3756331</li><li>rs3733706</li>	2
Q9Y5H7	56143	<ul><li>A->V at 691: in dbSNP:rs4141841</ul>									rs4141841	2
Q9Y5H8	56145	<ul><li>I->T at 289: in dbSNP:rs3733709<li>I->V at 318: in dbSNP:rs3733708<li>S->I at 440: in dbSNP:rs7701755<li>C->Y at 759: in dbSNP:rs2240694</ul>									<li>rs2240694</li><li>rs7701755</li><li>rs3733709</li><li>rs3733708</li>	2
Q9Y5H9	56146	<ul><li>V->L at 106: in dbSNP:rs11167600<li>P->L at 764: in dbSNP:rs6858913</ul>									<li>rs6858913</li><li>rs11167600</li>	2
Q9Y5I1	56138	<ul><li>S->Y at 199: in dbSNP:rs10071369<li>W->S at 418: in dbSNP:rs17119218</ul>									<li>rs17119218</li><li>rs10071369</li>	2
Q9Y5I2	56139	<ul><li>S->R at 439: in dbSNP:rs251362<li>V->G at 585: in dbSNP:rs251364<li>T->A at 639: in dbSNP:rs630162</ul>									<li>rs251362</li><li>rs251364</li><li>rs630162</li>	2
Q9Y5I3	56147	<ul><li>R->G at 360: in dbSNP:rs34575154<li>N->H at 449: in dbSNP:rs3733712<li>Y->C at 732: in dbSNP:rs2240696<li>C->F at 759: in dbSNP:rs2240695</ul>									<li>rs2240695</li><li>rs2240696</li><li>rs3733712</li><li>rs34575154</li>	2
Q9Y5I7	10686	<ul><li>M->R at 71: in HOMG3, MIM: 248250<li>H->D at 141: in HOMG3, MIM: 248250<li>L->P at 145: in HOMG3, MIM: 248250<li>R->L at 149: in HOMG3, MIM: 248250<li>L->F at 151: in HOMG3, MIM: 248250<li>L->P at 151: in HOMG3, MIM: 248250<li>L->W at 151: in HOMG3, MIM: 248250<li>L->P at 167: in HOMG3, MIM: 248250<li>G->R at 191: in HOMG3, MIM: 248250<li>G->A at 198: in HOMG3, MIM: 248250<li>G->D at 198: in HOMG3, MIM: 248250<li>A->T at 209: in HOMG3, MIM: 248250<li>R->T at 216: in HOMG3, MIM: 248250<li>F->C at 232: in HOMG3, MIM: 248250<li>G->D at 233: in HOMG3, MIM: 248250<li>S->F at 235: in HOMG3, MIM: 248250<li>S->P at 235: in HOMG3, MIM: 248250<li>G->R at 239: in HOMG3, MIM: 248250</ul>								Hypomagnesemia type 3 (HOMG3) [MIM:248250]		2
Q9Y5J5	23612	<ul><li>R->Q at 28: in dbSNP:rs35383942</ul>									rs35383942	2
Q9Y5J6	26515	<ul><li>G->S at 90: in dbSNP:rs17850713</ul>									rs17850713	2
Q9Y5K1	23626	<ul><li>T->A at 36: in dbSNP:rs28368062<li>M->V at 91: in dbSNP:rs3736832<li>A->V at 202: in dbSNP:rs17406460<li>R->W at 211: in dbSNP:rs28368082</ul>									<li>rs17406460</li><li>rs28368062</li><li>rs28368082</li><li>rs3736832</li>	2
Q9Y5K2	9622	<ul><li>S->A at 22: in dbSNP:rs1654551<li>G->D at 159: in dbSNP:rs34626614<li>Q->H at 197: in dbSNP:rs2569527</ul>									<li>rs34626614</li><li>rs1654551</li><li>rs2569527</li>	2
Q9Y5K5	51377	<ul><li>I->F at 197</ul>										2
Q9Y5K6	23607	<ul><li>N->K at 581: in dbSNP:rs34069459</ul>									rs34069459	2
Q9Y5L3	954	<ul><li>A->V at 103: in dbSNP:rs34618694</ul>									rs34618694	2
Q9Y5N1	11255	<ul><li>A->V at 280: in one Shy-Drager syndrome patient; rare variant with unknown pathological significance</ul>										2
Q9Y5N6	23594	<ul><li>R->W at 32: in dbSNP:rs3218744<li>P->Q at 138: in dbSNP:rs3218745</ul>									<li>rs3218745</li><li>rs3218744</li>	2
Q9Y5P0	79339	<ul><li>I->V at 36: in dbSNP:rs7118113<li>M->T at 147: in dbSNP:rs10837771</ul>									<li>rs10837771</li><li>rs7118113</li>	2
Q9Y5P3	10742	<ul><li>M->V at 252: in dbSNP:rs6527818<li>A->P at 342: in dbSNP:rs17855524</ul>									<li>rs6527818</li><li>rs17855524</li>	2
Q9Y5P4	10087	<ul><li>G->E at 67: in LY-A cell line; destroyes the phosphatidylinositol 4-phosphate-binding activity</ul>			phosphate-binding	GO:0042301						2
Q9Y5P6	29925	<ul><li>H->D at 126: in dbSNP:rs34345884<li>Q->R at 184: in dbSNP:rs1466685</ul>									<li>rs34345884</li><li>rs1466685</li>	2
Q9Y5P8	28227	<ul><li>D->E at 163: in dbSNP:rs3813594<li>A->V at 519: in dbSNP:rs1133520</ul>									<li>rs3813594</li><li>rs1133520</li>	2
Q9Y5Q0	3995	<ul><li>K->N at 192: in dbSNP:rs35479241<li>N->K at 216: in dbSNP:rs34511441</ul>									<li>rs35479241</li><li>rs34511441</li>	2
Q9Y5Q5	10699	<ul><li>Y->C at 13: in dbSNP:rs2289433<li>R->H at 525: in dbSNP:rs11934749</ul>									<li>rs2289433</li><li>rs11934749</li>	2
Q9Y5Q6	10022	<ul><li>Q->L at 50: in dbSNP:rs549148</ul>									rs549148	2
Q9Y5Q8	9328	<ul><li>D->N at 445: in dbSNP:rs637435</ul>									rs637435	2
Q9Y5R4	51409	<ul><li>R->Q at 192: in dbSNP:rs2232250<li>H->Q at 200: in dbSNP:rs2232251</ul>									<li>rs2232251</li><li>rs2232250</li>	2
Q9Y5R6	1761	<ul><li>S->T at 45: in dbSNP:rs3739583<li>Y->S at 221<li>R->S at 281<li>P->L at 295</ul>									rs3739583	2
Q9Y5R8	58485	<ul><li>R->G at 129: in a melanoma</ul>										2
Q9Y5S1	51393	<ul><li>G->A at 17: in dbSNP:rs3813768</ul>									rs3813768	2
Q9Y5S2	9578	<ul><li>K->E at 500: in a breast infiltrating ductal carcinoma sample; somatic mutation<li>R->Q at 555: in dbSNP rsrs36001612<li>R->Q at 671: in dbSNP rsrs55948035<li>R->W at 876: in a colorectal adenocarcinoma sample; somatic mutation<li>I->V at 1077: in dbSNP rsrs34822377<li>E->K at 1315: in a lung large cell carcinoma sample; somatic mutation<li>S->Y at 1633: in dbSNP rsrs56412851</ul>									<li>rs55948035</li><li>rs56412851</li><li>rs36001612</li><li>rs34822377</li>	2
Q9Y5S8	27035	<ul><li>R->H at 315: in dbSNP:rs2071756<li>R->K at 378: in dbSNP:rs35404864</ul>									<li>rs35404864</li><li>rs2071756</li>	2
Q9Y5T4	29103	<ul><li>R->G at 35: in dbSNP:rs11617079</ul>									rs11617079	2
Q9Y5T5	10600	<ul><li>Q->H at 141: in dbSNP:rs2274802</ul>									rs2274802	2
Q9Y5U5	8784	<ul><li>T->R at 43: in dbSNP:rs11466676<li>E->K at 64: in dbSNP:rs11466687<li>D->N at 83: in dbSNP:rs11466688<li>V->M at 173: in dbSNP:rs11466693</ul>									<li>rs11466693</li><li>rs11466676</li><li>rs11466688</li><li>rs11466687</li>	2
Q9Y5U8	51660	<ul><li>L->I at 36: in dbSNP:rs11557064</ul>									rs11557064	2
Q9Y5W3	10365	<ul><li>L->P at 104: in dbSNP:rs3745318<li>R->P at 145: in dbSNP rsrs45586032</ul>									<li>rs3745318</li><li>rs45586032</li>	2
Q9Y5X0	29887	<ul><li>S->I at 187: in dbSNP:rs1053042</ul>									rs1053042	2
Q9Y5X2	29886	<ul><li>A->G at 147: in a colorectal cancer sample; somatic mutation</ul>										2
Q9Y5X4	10002	<ul><li>G->R at 56: in RP37, MIM: 611131<li>Missing  at 67-69: in ESCS, MIM: 611131<li>R->Q at 76: in ESCS, MIM: 268100<li>R->W at 76: in ESCS, MIM: 268100<li>G->V at 88: in ESCS, MIM: 268100<li>R->H at 97: in ESCS, MIM: 268100<li>R->W at 104: in ESCS, MIM: 268100<li>E->K at 121: in ESCS, MIM: 268100<li>E->G at 140: in dbSNP:rs1805020, MIM: 268100<li>M->T at 163: in dbSNP:rs1805021, MIM: 268100<li>V->I at 232: in dbSNP:rs1805023, MIM: 268100<li>W->S at 234: in ESCS, MIM: 268100<li>A->E at 256: in ESCS, MIM: 268100<li>L->P at 263: in ESCS, MIM: 268100<li>V->I at 302: in dbSNP:rs1805025, MIM: 268100<li>R->G at 309: in ESCS, MIM: 268100<li>R->Q at 311: in ESCS; hinders the ability to form stable dimers; dbSNP:rs28937873, MIM: 268100<li>L->P at 336: in ESCS, MIM: 268100<li>L->V at 353: in ESCS, MIM: 268100<li>R->P at 385: in ESCS, MIM: 268100<li>M->K at 407: in ESCS, MIM: 268100</ul>							P32827	<li>Enhanced S cone syndrome (ESCS) [MIM:268100]</li><li>Retinitis pigmentosa type 37 (RP37) [MIM:611131]</li>	<li>rs1805025</li><li>rs1805023</li><li>rs1805021</li><li>rs1805020</li><li>rs28937873</li>	2
Q9Y5X9	9388	<ul><li>G->S at 26: in dbSNP:rs9963243<li>G->S at 96<li>T->I at 111: in dbSNP:rs2000813<li>R->H at 312</ul>									<li>rs9963243</li><li>rs2000813</li>	2
Q9Y5Y0	28982	<ul><li>A->P at 52: in dbSNP:rs11120047<li>T->M at 544: in dbSNP:rs3207090</ul>									<li>rs11120047</li><li>rs3207090</li>	2
Q9Y5Y2	10101	<ul><li>P->S at 250: in dbSNP:rs35030308<li>T->M at 266: in dbSNP:rs34028164</ul>									<li>rs35030308</li><li>rs34028164</li>	2
Q9Y5Y3	11250	<ul><li>S->C at 7: in a breast cancer sample; somatic mutation<li>L->F at 312: in dbSNP:rs35946826</ul>									rs35946826	2
Q9Y5Y5	9409	<ul><li>V->M at 103: in dbSNP:rs11553094<li>V->L at 254: in dbSNP:rs35214605</ul>									<li>rs11553094</li><li>rs35214605</li>	2
Q9Y5Y6	6768	<ul><li>M->I at 285: in dbSNP:rs7126904<li>R->S at 381: in dbSNP:rs17667603<li>G->R at 827: in ARIH, MIM: 610765</ul>								Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765]	<li>rs7126904</li><li>rs17667603</li>	2
Q9Y5Y7	10894	<ul><li>W->R at 116: in dbSNP:rs17852369<li>T->I at 214: in dbSNP:rs16907980<li>V->M at 315: in dbSNP:rs7948666</ul>									<li>rs7948666</li><li>rs17852369</li><li>rs16907980</li>	2
Q9Y5Y9	6336	<ul><li>S->P at 509: in dbSNP:rs7630989<li>G->R at 590: in dbSNP:rs35332705<li>V->A at 1073: in dbSNP:rs6795970<li>L->P at 1092: in dbSNP:rs12632942<li>M->V at 1713: in dbSNP:rs6599241</ul>									<li>rs6599241</li><li>rs12632942</li><li>rs6795970</li><li>rs7630989</li><li>rs35332705</li>	2
Q9Y5Z4	23593	<ul><li>R->Q at 140: in dbSNP:rs3734303<li>E->A at 191: in dbSNP:rs14812</ul>									<li>rs14812</li><li>rs3734303</li>	2
Q9Y5Z7	29915	<ul><li>A->S at 46: in dbSNP:rs2700500<li>G->A at 268: in dbSNP:rs17035206</ul>									<li>rs2700500</li><li>rs17035206</li>	2
Q9Y5Z9	29914	<ul><li>S->F at 75<li>N->S at 102: in SCCD, MIM: 121800<li>D->G at 112: in SCCD, MIM: 121800<li>D->G at 118: in SCCD, MIM: 121800<li>R->G at 119: in SCCD, MIM: 121800<li>L->F at 121: in SCCD, MIM: 121800<li>S->P at 171: in SCCD, MIM: 121800<li>T->I at 175: in SCCD, MIM: 121800<li>G->R at 177: in SCCD, MIM: 121800<li>G->R at 186: in SCCD, MIM: 121800<li>N->S at 232: in SCCD, MIM: 121800<li>D->E at 236: in SCCD, MIM: 121800</ul>								Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]		2
Q9Y603	51513	<ul><li>H->Y at 138: in dbSNP:rs9470262<li>G->S at 199: in dbSNP:rs34306145<li>P->L at 212: in dbSNP:rs2234079<li>A->V at 250: in dbSNP:rs2234080</ul>									<li>rs9470262</li><li>rs34306145</li><li>rs2234079</li><li>rs2234080</li>	2
Q9Y606	80324	<ul><li>D->N at 133: in a breast cancer sample; somatic mutation<li>R->W at 144: in MLSA</ul>										2
Q9Y608	9209	<ul><li>K->E at 143: in dbSNP:rs34902788</ul>									rs34902788	2
Q9Y615	10881	<ul><li>R->C at 45<li>A->P at 161: in dbSNP:rs35995497<li>V->M at 340: in dbSNP:rs7872077</ul>									<li>rs7872077</li><li>rs35995497</li>	2
Q9Y616	11213	<ul><li>P->L at 22: may be associated with ASRT5<li>H->R at 57: in dbSNP:rs35239505<li>G->S at 84: in dbSNP rsrs34443407<li>P->A at 111: may be associated with ASRT5<li>V->M at 134: may be associated with ASRT5<li>V->I at 147: in dbSNP:rs1152888<li>I->V at 171: in dbSNP:rs34682166<li>G->S at 269: in dbSNP:rs35823766<li>I->V at 270: in dbSNP:rs11465972<li>S->L at 288: in dbSNP:rs35574245<li>R->Q at 384: in dbSNP rsrs34272472<li>M->T at 391: in dbSNP rsrs35737689<li>L->V at 400: may be associated with ASRT5<li>R->Q at 429: may be associated with ASRT5<li>D->N at 482: in dbSNP rsrs35756811</ul>									<li>rs35737689</li><li>rs34682166</li><li>rs11465972</li><li>rs35239505</li><li>rs35574245</li><li>rs34443407</li><li>rs34272472</li><li>rs35756811</li><li>rs35823766</li><li>rs1152888</li>	2
Q9Y617	29968	<ul><li>P->A at 87: in dbSNP:rs11540974<li>D->A at 100: in PSATD; reduced Vmax, MIM: 610992</ul>								Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	rs11540974	2
Q9Y619	10166	<ul><li>G->E at 27: in HHH syndrome, MIM: 238970<li>G->R at 27: in HHH syndrome, MIM: 238970<li>P->R at 126: in HHH syndrome, MIM: 238970<li>E->K at 180: in HHH syndrome, MIM: 238970<li>Missing  at 188: in HHH syndrome, MIM: 238970<li>G->D at 190: in HHH syndrome, MIM: 238970<li>I->L at 254: in dbSNP rsrs17849654, MIM: 238970<li>R->Q at 275: in HHH syndrome, MIM: 238970</ul>								Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	rs17849654	2
Q9Y620	25788	<ul><li>L->V at 30: in dbSNP:rs28910279<li>D->H at 97: in dbSNP:rs2919661<li>D->Y at 418: in colon cancer<li>N->S at 593: in lymphoma; non-Hodgkin's</ul>									<li>rs2919661</li><li>rs28910279</li>	2
Q9Y623	4622	<ul><li>A->T at 594: in dbSNP:rs12949680<li>T->M at 883: in dbSNP:rs3744558<li>I->M at 1106: in dbSNP:rs917361<li>A->D at 1117: in dbSNP:rs16943441<li>E->K at 1209: in dbSNP:rs11651295<li>D->G at 1802: in dbSNP:rs2277649<li>K->E at 1911: in dbSNP:rs3744554</ul>									<li>rs3744554</li><li>rs11651295</li><li>rs12949680</li><li>rs2277649</li><li>rs917361</li><li>rs3744558</li><li>rs16943441</li>	2
Q9Y625	10082	<ul><li>V->M at 412: in dbSNP:rs1535692</ul>									rs1535692	2
Q9Y646	10404	<ul><li>S->N at 138: in dbSNP:rs34088584</ul>									rs34088584	2
Q9Y651	11166	<ul><li>G->R at 230: in dbSNP:rs6492735</ul>									rs6492735	2
Q9Y653	9289	<ul><li>R->W at 38: in BFPP, MIM: 606854<li>Y->C at 88: in BFPP, MIM: 606854<li>C->S at 91: in BFPP, MIM: 606854<li>S->R at 281: in dbSNP:rs1801257, MIM: 606854<li>Q->H at 306: in dbSNP:rs1801255, MIM: 606854<li>C->S at 346: in BFPP, MIM: 606854<li>M->T at 493: in dbSNP:rs17379472, MIM: 606854<li>P->L at 527: in dbSNP:rs16958679, MIM: 606854<li>R->W at 565: in BFPP, MIM: 606854</ul>								Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	<li>rs1801257</li><li>rs1801255</li><li>rs16958679</li><li>rs17379472</li>	2
Q9Y657	10927	<ul><li>A->P at 221: in dbSNP:rs34794905</ul>									rs34794905	2
Q9Y666	10723	<ul><li>A->T at 408: in dbSNP:rs4526148</ul>									rs4526148	2
Q9Y672	29929	<ul><li>Y->H at 131: in CDG1C: in dbSNP rsrs35383149, MIM: 603147<li>S->I at 170: in CDG1C, MIM: 603147<li>G->E at 227: in CDG1C, MIM: 603147<li>Missing  at 299: in CDG1C, MIM: 603147<li>F->S at 304: common polymorphism; reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth; may exacerbate the clinical severity of patients with CDG1A; dbSNP:rs4630153, MIM: 603147<li>S->R at 308: in CDG1C, MIM: 603147<li>A->V at 333: in CDG1C, MIM: 603147<li>Missing  at 444: in CDG1C, MIM: 603147<li>S->P at 478: in CDG1C, MIM: 603147</ul>								Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	<li>rs4630153</li><li>rs35383149</li>	2
Q9Y676	28973	<ul><li>P->A at 230: in dbSNP:rs34315095</ul>									rs34315095	2
Q9Y678	22820	<ul><li>M->T at 681: in dbSNP:rs15648</ul>									rs15648	2
Q9Y692	10691	<ul><li>V->A at 14: in dbSNP:rs11557120</ul>									rs11557120	2
Q9Y694	10864	<ul><li>R->K at 303<li>R->W at 327: in dbSNP rsrs36040909<li>G->V at 507</ul>									rs36040909	2
Q9Y6A1	10585	<ul><li>G->R at 76: in WWS: in dbSNP rsrs28941782, MIM: 236670<li>A->P at 200: in LGMD2K; a common founder mutation, MIM: 609308<li>R->Q at 251: in dbSNP:rs2296949, MIM: 609308<li>R->W at 251: in dbSNP:rs3887873, MIM: 609308<li>V->I at 327: in dbSNP:rs4740164, MIM: 609308<li>Missing  at 421: in WWS; associated with the loss of function of alpha dystroglycan as a matrix receptor, MIM: 609308<li>V->D at 428: in WWS, MIM: 236670<li>D->E at 433: in dbSNP:rs11243406, MIM: 236670<li>S->R at 537: in WWS, MIM: 236670</ul>							<li>Q9TSZ6</li><li>Q28685</li><li>O18738</li><li>Q62165</li><li>Q14118</li>	<li>Limb-girdle muscular dystrophy type 2K (LGMD2K) [MIM:609308]</li><li>Walker-Warburg syndrome (WWS) [MIM:236670]</li>	<li>rs4740164</li><li>rs2296949</li><li>rs11243406</li><li>rs28941782</li><li>rs3887873</li>	2
Q9Y6A5	10460	<ul><li>E->K at 143: in dbSNP:rs34205238<li>C->Y at 275: in dbSNP:rs17132047<li>G->S at 287: in dbSNP:rs1063743<li>G->E at 514: in dbSNP:rs17680881</ul>									<li>rs34205238</li><li>rs1063743</li><li>rs17680881</li><li>rs17132047</li>	2
Q9Y6B6	51128	<ul><li>G->R at 37: in ANDD; loss of GDP/GTP-binding, MIM: 607689<li>D->N at 137: in CMRD; reduced affinity for GDP/GTP: in dbSNP rsrs28942109, MIM: 246700<li>S->R at 179: in CMRD; loss of GDP/GTP-binding: in dbSNP rsrs28942110, MIM: 246700</ul>			GTP-binding	GO:0005525				<li>Anderson disease (ANDD) [MIM:607689]</li><li>Chylomicron retention disease (CMRD) [MIM:246700]</li>	<li>rs28942110</li><li>rs28942109</li>	2
Q9Y6B7	10717	<ul><li>L->S at 480: in dbSNP:rs1217401</ul>									rs1217401	2
Q9Y6C2	11117	<ul><li>Q->R at 149: in dbSNP:rs2736976<li>Q->R at 536: in dbSNP:rs36069611<li>E->K at 903: in dbSNP:rs36045790</ul>									<li>rs36069611</li><li>rs36045790</li><li>rs2736976</li>	2
Q9Y6C5	8643	<ul><li>E->Q at 346: in dbSNP:rs11573578<li>E->K at 493: in dbSNP:rs11573581<li>H->Y at 622: in dbSNP:rs11573586<li>T->M at 988: in dbSNP:rs11573590<li>V->M at 995: in dbSNP:rs11573591<li>V->M at 1019: in dbSNP:rs11573591<li>I->M at 1121: in dbSNP:rs11573598</ul>									<li>rs11573578</li><li>rs11573586</li><li>rs11573591</li><li>rs11573598</li><li>rs11573590</li><li>rs11573581</li>	2
Q9Y6C9	23788	<ul><li>R->S at 68: in dbSNP:rs34072236<li>P->A at 290: in dbSNP:rs1064608</ul>									<li>rs1064608</li><li>rs34072236</li>	2
Q9Y6D0	58515	<ul><li>R->S at 50: in dbSNP:rs11562</ul>									rs11562	2
Q9Y6D5	10564	<ul><li>E->K at 209: in PVNH2; dbSNP:rs28937880, MIM: 608097<li>A->V at 527: in dbSNP:rs6063343, MIM: 608097<li>K->E at 794: in a breast cancer sample; somatic mutation, MIM: 608097</ul>								Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097]	<li>rs6063343</li><li>rs28937880</li>	2
Q9Y6D6	10565	<ul><li>D->Y at 273: in dbSNP:rs4321984<li>G->E at 316: in a colorectal cancer sample; somatic mutation</ul>									rs4321984	2
Q9Y6D9	8379	<ul><li>S->L at 29: in a lymphoid cancer cell line; somatic mutation<li>R->C at 59: in a prostate cancer cell line; somatic mutation: in dbSNP rsrs28939694<li>N->S at 160<li>T->A at 299: in lung cancer cell line; somatic mutation<li>R->Q at 360: in a prostate cancer cell line; somatic mutation<li>T->M at 500<li>E->K at 511<li>E->K at 516: in a breast cancer cell line; somatic mutation<li>R->C at 556: in a prostate cancer cell line; somatic mutation<li>R->H at 556: in one individual with lung cancer<li>R->H at 558: in a cancer cell line; dbSNP:rs1801368<li>E->K at 569: in a breast cancer cell line; somatic mutation<li>R->H at 572: in a cancer cell line: in dbSNP rsrs1801500</ul>									<li>rs1801500</li><li>rs1801368</li><li>rs28939694</li>	2
Q9Y6E0	8428	<ul><li>A->V at 414: in dbSNP rsrs55953606<li>L->I at 426: in dbSNP rsrs55897869</ul>									<li>rs55953606</li><li>rs55897869</li>	2
Q9Y6E2	28969	<ul><li>D->A at 44: in dbSNP:rs35233079</ul>									rs35233079	2
Q9Y6G1	28978	<ul><li>C->R at 37: in dbSNP:rs11543266</ul>									rs11543266	2
Q9Y6G9	51143	<ul><li>Q->R at 277: in dbSNP:rs2303857</ul>									rs2303857	2
Q9Y6H1	51142	<ul><li>H->N at 78: in dbSNP:rs11546418</ul>									rs11546418	2
Q9Y6H5	9627	<ul><li>E->G at 235: in dbSNP:rs6867105<li>R->C at 621: in PD; reduced number of cytoplasmic inclusions in cells expressing C-621 compared with cells expressing wild-type : in dbSNP rsrs28937592, MIM: 168600</ul>								Parkinson disease (PD) [MIM:168600]	<li>rs28937592</li><li>rs6867105</li>	2
Q9Y6H6	10008	<ul><li>R->H at 83: in HOKPP and TPP; alters voltage dependence, lowers current and diminishes open probability in KCNC4/KCNE3 channel; lowers current in KCNQ1/KCNE3 channel: in dbSNP rsrs17215437, MIM: 188580</ul>							<li>Q8SSL0</li><li>P51787</li><li>P31688</li><li>P31678</li><li>Q9Y6H6</li><li>O97531</li><li>Q9L894</li><li>P10463</li><li>Q9MYS6</li><li>P55611</li><li>O73925</li><li>P78875</li><li>O70344</li><li>Q9TTJ7</li><li>Q03721</li>	<li>Thyrotoxic hypokalemic periodic paralysis (TPP) [MIM:188580]</li><li>Periodic paralysis hypokalemic (HOKPP) [MIM:170400]</li>	rs17215437	2
Q9Y6H8		<ul><li>L->S at 11: in cataract; autosomal dominant congenital/infantile "ant-egg" cataract<li>F->L at 32: in CZP3, MIM: 601885<li>W->S at 45: in nuclear progressive cataract, MIM: 601885<li>P->L at 59: in cataract; autosomal dominant nuclear punctate cataract, MIM: 601885<li>N->S at 63: in CZP3, MIM: 601885<li>R->H at 76: in CZP3; not fully penetrant mutation, MIM: 601885<li>P->L at 187: in CZP3, MIM: 601885<li>M->L at 299: in dbSNP:rs968566, MIM: 601885</ul>								Zonular pulverulent cataract type 3 (CZP3) [MIM:601885]	rs968566	2
Q9Y6I4	9960	<ul><li>P->T at 360: in dbSNP:rs34776764</ul>									rs34776764	2
Q9Y6I7	26118	<ul><li>L->S at 16: in dbSNP:rs9303634</ul>									rs9303634	2
Q9Y6I8	11264	<ul><li>V->I at 204: in dbSNP:rs910397</ul>									rs910397	2
Q9Y6J0	23523	<ul><li>A->T at 56: in dbSNP:rs5760185<li>D->N at 225: in dbSNP:rs17004823<li>S->R at 517: in dbSNP:rs9624393<li>R->S at 660: in dbSNP:rs9624395<li>R->Q at 853: in dbSNP:rs17854874<li>Q->E at 921: in dbSNP:rs12166151</ul>									<li>rs17854874</li><li>rs12166151</li><li>rs17004823</li><li>rs9624393</li><li>rs9624395</li><li>rs5760185</li>	2
Q9Y6J3		<ul><li>K->N at 85: in dbSNP:rs3764941</ul>									rs3764941	2
Q9Y6J6	9992	<ul><li>T->A at 8: in dbSNP:rs2234916<li>T->I at 8: in dbSNP:rs35759083<li>Q->E at 9: in LQT6; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel; dbSNP:rs16991652, MIM: 603796<li>R->C at 27: in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF, MIM: 611493<li>M->T at 54: in LQT6; forms I, MIM: 603796<li>I->T at 57: in LQT6; may affect KCNQ1/KCNE2 channel, MIM: 603796<li>F->L at 60: in LQT6; may be a rare polymorphism; dbSNP:rs16991654, MIM: 603796<li>V->M at 65: in LQT6, MIM: 603796<li>A->V at 66: in dbSNP:rs16991656, MIM: 603796<li>R->W at 77: in LQT6, MIM: 603796</ul>							<li>Q9MYS6</li><li>P51787</li><li>Q9Y6J6</li><li>O97531</li><li>O73925</li><li>O70344</li><li>Q9TTJ7</li><li>Q9BDR0</li>	<li>Familial atrial fibrillation type 4 (ATFB4) [MIM:611493]</li><li>Long QT syndrome type 6 (LQT6) [MIM:603796]</li>	<li>rs35759083</li><li>rs16991656</li><li>rs16991654</li><li>rs2234916</li><li>rs16991652</li>	2
Q9Y6K9	8517	<ul><li>E->K at 57: in IP; shows the same luciferase activity as the control, MIM: 308300<li>Missing  at 90: in IP; only 46.3% of the activation obtained with the wild-type protein, MIM: 308300<li>D->N at 113: in IP; shows the same luciferase activity as the control, MIM: 308300<li>R->W at 123: in IP; shows the same luciferase activity as the control, MIM: 308300<li>L->R at 153: in EDAXID, MIM: 300291<li>R->G at 173: in IPD2, MIM: 300640<li>R->P at 175: in EDAXID, MIM: 300291<li>L->P at 227: in EDAXID, MIM: 300291<li>A->G at 288: in EDAXID, MIM: 300291<li>D->N at 311: in EDAXID, MIM: 300291<li>E->A at 315: in AMCBX1, MIM: 300636<li>R->Q at 319: in AMCBX1, MIM: 300636<li>A->P at 323: in IP; diminishes interaction with TRAF6 and polyubiquitination, MIM: 308300<li>D->V at 406: in EDAXID, MIM: 300291<li>M->V at 407: in IP, MIM: 308300<li>C->F at 417: in EDAXID, MIM: 300291<li>C->R at 417: in EDAXID, MIM: 300291<li>C->Y at 417: in EDAXID, MIM: 300291</ul>							<li>P08659</li><li>Q01158</li><li>P13129</li><li>Q9Y4K3</li><li>Q26304</li><li>Q27757</li>	<li>Incontinentia pigmenti (IP) [MIM:308300]</li><li>Recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:300640]</li><li>X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]</li><li>Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) [MIM:300291]</li>		2
Q9Y6L6	10599	<ul><li>F->L at 73: results in low levels of expression and decreased transport activity: in dbSNP rsrs56101265<li>V->A at 82: decreased transport activity: in dbSNP rsrs56061388<li>N->D at 130: in dbSNP rsrs2306283<li>R->K at 152<li>P->T at 155: decreased transport activity: in dbSNP rsrs11045819<li>E->G at 156: decreased transport activity<li>V->A at 174: decreased transport activity: in dbSNP rsrs4149056<li>L->R at 193: strongly decreases expression at the plasma membrane; abolishes transport activity<li>D->N at 241<li>I->T at 353: decreased transport activity: in dbSNP rsrs55901008<li>N->D at 432: in dbSNP rsrs56387224<li>D->G at 462<li>G->A at 488: decreased transport activity: in dbSNP rsrs59502379<li>D->G at 655: decreased transport activity: in dbSNP rsrs56199088<li>E->G at 667: in dbSNP rsrs55737008</ul>	transport	GO:0006810			plasma membrane	GO:0005886			<li>rs11045819</li><li>rs56387224</li><li>rs2306283</li><li>rs56101265</li><li>rs4149056</li><li>rs55737008</li><li>rs55901008</li><li>rs56199088</li><li>rs56061388</li><li>rs59502379</li>	2
Q9Y6M0	10942	<ul><li>R->Q at 264: in dbSNP:rs2072273</ul>									rs2072273	2
Q9Y6M9	4715	<ul><li>P->S at 146: in dbSNP:rs10195</ul>									rs10195	2
Q9Y6N1	1353	<ul><li>P->L at 74: in dbSNP:rs34080917</ul>									rs34080917	2
Q9Y6N3	9629	<ul><li>Y->T at 84: requires 2 nucleotide substitutions; dbSNP:rs2292830<li>I->T at 104: in dbSNP:rs2292829</ul>									rs2292829	2
Q9Y6N5	58472	<ul><li>I->T at 264: in dbSNP:rs1044032</ul>									rs1044032	2
Q9Y6N7	6091	<ul><li>V->A at 336: in dbSNP:rs9647397<li>S->N at 1055: in breast cancer<li>S->N at 1091: in dbSNP:rs35456279<li>E->D at 1533: in breast cancer: in dbSNP rsrs36055689</ul>									<li>rs36055689</li><li>rs35456279</li><li>rs9647397</li>	2
Q9Y6N8	1008	<ul><li>V->L at 371: in a breast cancer sample; somatic mutation<li>S->F at 413: in dbSNP:rs1395027</ul>									rs1395027	2
Q9Y6N9	10083	<ul><li>E->D at 519: in dbSNP:rs1064074</ul>									rs1064074	2
Q9Y6P5	27244	<ul><li>L->I at 44: in dbSNP:rs2273668</ul>									rs2273668	2
Q9Y6Q1	827	<ul><li>V->L at 277: in dbSNP:rs12013711<li>G->R at 358: in a colorectal cancer sample; somatic mutation<li>T->I at 518: in dbSNP:rs12851517</ul>									<li>rs12851517</li><li>rs12013711</li>	2
Q9Y6Q2	11037	<ul><li>K->N at 8: in dbSNP:rs17039250<li>R->T at 127: in dbSNP:rs940389<li>Q->H at 544: in dbSNP:rs3828341<li>Q->H at 607: in dbSNP:rs3792234</ul>									<li>rs3792234</li><li>rs17039250</li><li>rs940389</li><li>rs3828341</li>	2
Q9Y6Q6	8792	<ul><li>L->LALLLLCALL at 21: in PDB2<li>L->LLLCALL at 21: in FEO<li>G->R at 53: in OPTB7; two patients with osteoclast-poor osteopetrosis, MIM: 612301<li>R->C at 129: in OPTB7; a patient with osteoclast-poor osteopetrosis, MIM: 612301<li>H->Y at 141: in dbSNP:rs35211496, MIM: 612301<li>R->G at 170: in OPTB7; two siblings with osteoclast-poor osteopetrosis, MIM: 612301<li>C->R at 175: in OPTB7; two patients with osteoclast-poor osteopetrosis, MIM: 612301<li>A->V at 192: in dbSNP:rs1805034, MIM: 612301<li>A->S at 244: in OPTB7; one patient with osteoclast-poor osteopetrosis, MIM: 612301</ul>								Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	<li>rs1805034</li><li>rs35211496</li>	2
Q9Y6Q9	8202	<ul><li>R->C at 218: in dbSNP:rs6094752<li>L->F at 369: in dbSNP:rs6094756<li>G->R at 460: in dbSNP:rs1052765<li>P->S at 559: in dbSNP:rs2230781<li>Q->H at 586: in dbSNP:rs2230782<li>S->A at 777: in dbSNP:rs2230783<li>Missing at 1248-1250</ul>									<li>rs6094756</li><li>rs1052765</li><li>rs2230782</li><li>rs6094752</li><li>rs2230781</li><li>rs2230783</li>	2
Q9Y6R1	8671	<ul><li>R->S at 342: in proximal renal tubular acidosis with ocular abnormalities; mistargeting and altered function, MIM: 604278<li>S->L at 471: in proximal renal tubular acidosis with ocular abnormalities; mistargeting to the apical membrane and altered function, MIM: 604278<li>T->S at 529: in proximal renal tubular acidosis with ocular abnormalities; mistargeting and altered function, MIM: 604278<li>R->H at 554: in proximal renal tubular acidosis with ocular abnormalities; mistargeting and altered function, MIM: 604278<li>A->V at 843: in proximal renal tubular acidosis with ocular abnormalities; altered function, MIM: 604278<li>R->C at 925: in proximal renal tubular acidosis with ocular abnormalities; altered function, MIM: 604278</ul>					membrane	GO:0016020		Proximal renal tubular acidosis with ocular abnormalities [MIM:604278]		2
Q9Y6R4	4216	<ul><li>I->T at 294: in dbSNP rsrs35842248<li>V->I at 335: in dbSNP rsrs35730939<li>R->H at 566: in dbSNP rsrs55765351<li>Q->H at 584: in dbSNP rsrs34018542<li>H->P at 906: in dbSNP rsrs35533223<li>E->Q at 1412: in an ovarian serous carcinoma sample; somatic mutation<li>A->V at 1491: in dbSNP rsrs41267837</ul>									<li>rs41267837</li><li>rs55765351</li><li>rs35842248</li><li>rs35533223</li><li>rs35730939</li><li>rs34018542</li>	2
Q9Y6R7	8857	<ul><li>V->A at 732: in dbSNP:rs34181317<li>N->S at 770: in dbSNP:rs34939346<li>G->R at 929: in dbSNP:rs35338934<li>V->M at 971: in dbSNP:rs35922811<li>G->R at 1019: in dbSNP:rs34254649<li>V->L at 1340: in dbSNP:rs11083543<li>P->L at 1436: in dbSNP:rs36106401<li>H->D at 1445: in dbSNP:rs2909229<li>T->N at 1524: in dbSNP:rs34938990<li>G->V at 1616: in dbSNP:rs7248839<li>M->V at 1617: in dbSNP:rs7249743<li>N->D at 2089: in dbSNP:rs885723<li>E->D at 2646: in dbSNP:rs2542320<li>E->K at 2647: in dbSNP:rs2542319<li>A->V at 2793: in dbSNP:rs2542316<li>V->A at 2814: in dbSNP:rs3746009<li>G->S at 3264: in dbSNP:rs6508919<li>H->Q at 3920: in dbSNP:rs2542318<li>V->A at 4015: in dbSNP:rs3746009<li>G->D at 4095: in dbSNP:rs1975181<li>G->S at 4465: in dbSNP:rs6508919<li>D->H at 4906: in dbSNP:rs3746013<li>A->V at 5017: in dbSNP:rs741143</ul>									<li>rs1975181</li><li>rs34939346</li><li>rs7249743</li><li>rs34181317</li><li>rs3746009</li><li>rs2542320</li><li>rs34254649</li><li>rs11083543</li><li>rs34938990</li><li>rs885723</li><li>rs35338934</li><li>rs36106401</li><li>rs2542319</li><li>rs2542318</li><li>rs2542316</li><li>rs741143</li><li>rs2909229</li><li>rs6508919</li><li>rs3746013</li><li>rs35922811</li><li>rs7248839</li>	2
Q9Y6S9	83694	<ul><li>R->Q at 21: in dbSNP rsrs7156590<li>P->L at 121: in dbSNP rsrs2286913<li>R->W at 332</ul>									<li>rs2286913</li><li>rs7156590</li>	2
Q9Y6T7	1607	<ul><li>G->S at 789: in dbSNP:rs34616903</ul>									rs34616903	2
Q9Y6U7	200312	<ul><li>A->T at 322: in dbSNP:rs5749088</ul>									rs5749088	2
Q9Y6V7	54555	<ul><li>R->H at 222: in dbSNP:rs35802425<li>S->A at 296: in dbSNP:rs35614860<li>R->W at 413: in dbSNP:rs16995781</ul>									<li>rs16995781</li><li>rs35802425</li><li>rs35614860</li>	2
Q9Y6X0	26040	<ul><li>V->L at 177: in dbSNP:rs11082414<li>V->I at 1047: in dbSNP:rs3744825<li>P->T at 1076: in dbSNP:rs1064204<li>R->W at 1108: in a colorectal cancer sample; somatic mutation</ul>									<li>rs3744825</li><li>rs11082414</li><li>rs1064204</li>	2
Q9Y6X2	10401	<ul><li>S->C at 390: in dbSNP:rs17354559</ul>									rs17354559	2
Q9Y6X5	22875	<ul><li>H->Q at 144: in dbSNP:rs7451713<li>I->V at 255: in dbSNP:rs9381429<li>S->A at 439: in dbSNP:rs16874289</ul>									<li>rs16874289</li><li>rs9381429</li><li>rs7451713</li>	2
Q9Y6X6	23026	<ul><li>D->E at 181: in dbSNP:rs911973<li>V->I at 339: in dbSNP:rs405397<li>M->T at 385: in dbSNP:rs16973313<li>P->A at 831: in dbSNP:rs3825491<li>I->M at 1171: in dbSNP:rs157024</ul>									<li>rs3825491</li><li>rs16973313</li><li>rs405397</li><li>rs911973</li><li>rs157024</li>	2
Q9Y6X8	22882	<ul><li>V->M at 357: in dbSNP:rs9649951<li>R->K at 649: in dbSNP:rs35319449<li>G->S at 779: in dbSNP:rs3802264</ul>									<li>rs3802264</li><li>rs35319449</li><li>rs9649951</li>	2
Q9Y6Y1	23261	<ul><li>N->K at 1177: in dbSNP:rs41278952<li>N->T at 1218: in dbSNP:rs41278954<li>T->I at 1336</ul>									<li>rs41278954</li><li>rs41278952</li>	2
Q9Y6Y8	11